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Other symptoms may include poor hue discrimination, a need for increased light, and monocular diplopia. Cortical cataracts are caused by changes in hydration of lens fibers creating clefts in a radial pattern around the equatorial region. Visual function is variably affected, depending on how near the opacities are to the visual axis. They tend to cause visual symptoms earlier in their development owing to involvement of the visual axis. Common symptoms include glare and reduced vision under bright lighting conditions. This lens opacity can also result from trauma, corticosteroid use (topical or systemic), inflammation, or exposure to ionizing radiation. If surgery is indicated, lens extraction improves visual acuity in over 90% of cases. The remainder of patients either has preexisting retinal damage or, in rare cases, develops complications that prevent significant visual improvement, for example, intraocular hemorrhage perioperatively, or infection, retinal detachment, or glaucoma postoperatively. Childhood cataracts are divided into two groups: congenital (infantile) cataracts, which are present at birth or appear shortly thereafter, and acquired cataracts, which occur later and are usually related to a specific cause. About one-third of childhood cataracts are hereditary, while another third are secondary to metabolic or infectious diseases or associated with a variety of syndromes. Congenital Cataract Congenital lens opacities are common and often visually insignificant (see also Chapter 17). Opacity that is out of the visual axis or not dense enough to interfere significantly with light transmission requires no treatment other than observation. Congenital cataracts that cause significant visual loss must be detected early, preferably in the newborn nursery by the pediatrician or family physician. Large, dense, white cataracts may present as leukocoria (white pupil), noticeable by the parents, but many dense cataracts cannot be seen by the parents. Unilateral infantile cataracts that are dense, central, and larger than 2 mm in diameter will cause permanent deprivation amblyopia if not treated within the first 2 months of life and thus require surgical management on an urgent basis. Even then, there must be careful attention to avoidance of amblyopia (see also Chapter 17) related to postoperative anisometropia (difference in focus power between the two eyes). Equally dense bilateral cataracts may require less-urgent management, although bilateral deprivation amblyopia can result. When surgery is undertaken, there must be as short an interval as is reasonably possible between treatment of the two eyes. Acquired Cataract Acquired cataracts often do not require the same urgent care (aimed at 403 preventing amblyopia) as infantile cataracts because the children are usually older and the visual system more mature. Surgical assessment is based on the location, size, and density of the cataract, but a period of observation along with subjective visual acuity testing is helpful. Because unilateral cataract in children will not produce any symptoms or signs that parents would routinely notice, screening programs are important for case finding. Air rifle pellets and fireworks are a frequent cause; less-frequent causes include arrows, rocks, contusions, and ionizing radiation. This is usually due to ocular contusion and is only detectable through a well-dilated pupil. The lens usually becomes white soon after the entry of a foreign body, since interruption of the lens capsule allows fluid to penetrate into the lens structure. For example, a minute fragment of a steel hammer may pass through the cornea and lens and lodge in the vitreous or retina. The cataract usually begins in the posterior subcapsular area and may eventually involve the entire lens 405 structure. Intraocular diseases commonly associated with the development of cataracts are chronic or recurrent uveitis, glaucoma, retinitis pigmentosa, and retinal detachment. The visual prognosis is not as good as in ordinary age-related cataract due to the underlying ocular disease. This type of cataract is sometimes seen as an ocular complication of diabetes mellitus. Other drugs associated with cataract include phenothiazines and amiodarone (see Chapter 22). The generally preferred method in adults and older children preserves the posterior portion of the lens capsule and thus is known as extracapsular cataract extraction. An incision is made at the limbus or in the peripheral cornea, either superiorly or temporally. An opening is created in the anterior capsule (anterior capsulorhexis), and the nucleus and cortex of the lens are removed. The technique of phacoemulsification is now the most common form of extracapsular cataract extraction in developed countries. It uses a handheld ultrasonic vibrator to disintegrate the hard nucleus such that the nuclear material and cortex can be aspirated through a small incision of approximately 2. This same incision size is then adequate for insertion of foldable intraocular lenses. If a rigid intraocular lens is used, the wound needs to be extended to approximately 5 mm. In developing countries, particularly rural areas, the instruments for phacoemulsification are often not available. Intraocular Lenses There are many styles of intraocular lenses, but most designs consist of a central 407 optic and two legs (or haptics) to maintain the optic in position. The optimal intraocular lens position is within the capsular bag following an extracapsular procedure. This is associated with the lowest incidence of postoperative complications, such as pseudophakic bullous keratopathy, glaucoma, iris damage, hyphema, and lens decentration. The newest posterior chamber lenses are made of flexible materials such as silicone and acrylic polymers, allowing the lens implant to be folded and thus decreasing the required incision size. Lenses with multifocal optics can provide good vision for both near and distance without glasses. If there is inadvertent damage to the posterior capsule during extracapsular surgery, an intraocular lens can be placed in the anterior chamber or sutured to lie in the ciliary sulcus. Methods of calculating the correct dioptric power of an intraocular lens are discussed in Chapter 21. If an intraocular lens cannot be safely placed or is contraindicated, postoperative refractive correction generally requires a contact lens or aphakic spectacles. Postoperative Care the patient is usually ambulatory on the day of surgery but is advised to move cautiously and avoid straining or heavy lifting for about a month. Protection at night by a metal shield is often suggested for several days after surgery. The most serious but rare complications are perioperative intraocular hemorrhage (< 0. Other complications include retinal detachment, cystoid macular edema, glaucoma, corneal edema, and ptosis. The proliferating epithelium may produce multiple layers, leading to opacification.

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It is characterised by produces acute conjunctivitis usually associated congestion and increased permeability of the with petechial subconjunctival haemorrhages. The conjunctival vessels associated with proliferation disease has a self-limiting course of 9-10 days. It is in the form of exudation and usually produces pseudomembranous of polymorphonuclear cells and other conjunctivitis. Petechial haemorrhages are seen when the Severity of pathological changes varies depending causative organism is pneumococcus. The changes are thus more marked in purulent conjunctivitis than mucopurulent conjunctivitis. Acute purulent conjunctivitis Acute membranous conjunctivitis Acute pseudomembranous conjunctivitis Chronic bacterial conjunctivitis Chronic angular conjunctivitis Fig. Mucopurulent conjunctivitis aureus, Koch-Weeks bacillus, Pneumococcus and reaches its height in three to four days. Mucopurulent conjunctivitis in mild cases the infection may be overcome and the generally accompanies exanthemata such as measles condition is cured in 10-15 days; or it may pass to and scarlet fever. Occasionally the disease may be Symptoms Discomfort and foreign body sensation due to complicated by marginal corneal ulcer, superficial engorgement of vessels. From other causes of acute red eye (see page Sticking together of lid margins with discharge 147). It is made out Slight blurring of vision due to mucous flakes in from the typical clinical picture of disease and is front of cornea. Topical antibiotics to control the infection it will wash away the lysozyme and other constitute the main treatment of acute protective proteins present in tears. Dark goggles may be used to prevent photo should be selected after culture and sensitivity phobia. No bandage should be applied in patients with routine, most of the patients respond well to mucopurulent conjunctivitis. Therefore, treatment the temperature of conjunctival cul-de-sac low may be started with chloramphenicol (1%), which inhibits the bacterial growth; while after gentamycin (0. No steroids should be applied, otherwise infection newer antibiotic drops such as ciprofloxacin will flare up and bacterial corneal ulcer may (0. Irrigation of conjunctival sac with sterile warm ibuprofen and paracetamol) may be given orally saline once or twice a day will help by removing for 2-3 days to provide symptomatic relief from the deleterious material. During this stage, pain is Acute purulent conjunctivitis also known as acute decreased and swelling of the lids subsides. It Discharge diminishes slowly and in the end occurs in two forms: (1) Adult purulent conjunctivitis resolution is complete. Gonococcal conjunctivitis is usually and (2) Ophthalmia neonatorum in newborn (see associated with urethritis and arthritis. Systemic therapy is far more critical than the It can be divided into three stages: topical therapy for the infections caused by N. Because of characterised by: the resistant strains penicillin and tetracyline are Considerably painful and tender eyeball. Because of the resistant strains, intensive therapy with penicillin drops is not reliable. Irrigation of the eyes frequently with sterile saline is very therapeutic in washing away infected debris. Topical atropine 1 per cent eye drops should be instilled once or twice a day if cornea is involved. Patient and the sexual partner should be referred for evaluation of other sexually transmitted dis Fig. Now-a-days it is of very-very rare occurrence, because of markedly decreased incidence of diphtheria. Etiology the disease is typically caused by Corynebacterium diphtheriae and occasionally by virulent type of Streptococcus haemolyticus. Corynebacterium diphtheriae produces a violent inflammation of the conjunctiva, associated with Complications deposition of fibrinous exudate on the surface as well 1. Corneal ulceration is a frequent complication in as in the substance of the conjunctiva resulting in acute stage. Delayed complications due to cicatrization include coagulative necrosis, resulting in sloughing of symblepharon, trichiasis, entropion and membrane. Diagnosis Clinical features Diagnosis is made from typical clinical features and the disease usually affects children between 2-8 confirmed by bacteriological examination. Broad spectrum antibiotic ointment should be conjunctiva, which on removing bleeds and applied at bed time. In this stage, the raw Once the membrane is sloughed off, the healing of surface covered with granulation tissue is raw surfaces will result in symblepharon, which should epithelised. Healing occurs by cicatrisation, which be prevented by applying contact shell or sweeping may cause trichiasis and conjunctival xerosis. Isolation of patient will prevent family members Pseudomembranous conjunctivitis is characterized from being infected. Proper immunization against diphtheria is very Acute mucopurulent conjunctivitis, like features effective and provides protection to the (see page 56) associated with. It is a type of acute conjunctivitis, characterised by Pseudomembrane can be peeled off easily and formation of a pseudomembrane (which can be easily does not bleed. Viral infections such as herpes simplex and Etiology adenoviral epidemic keratoconjunctivitis may also be sometimes associated with pseudomembrane A. Local cause of irritation such as trichiasis, to cause formation of such membrane. Eye strain due to refractive errors, phorias or the above agents produce inflammation of conju convergence insufficiency. Abuse of alcohol, insomnia and metabolic on its surface which coagulates and leads to formation disorders. Causative organisms Staphylococcus aureus is the commonest cause of chronic bacterial conjunctivitis. Gram negative rods such as Proteus mirabilis, Klebsiella pneumoniae, Escherichia coli and Moraxella lacunata are other rare causes. As continuation of acute mucopurulent conjunctivitis when untreated or partially treated. As chronic infection from associated chronic dacryocystitis, chronic rhinitis or chronic upper respiratory catarrh. As a mild exogenous infection which results from direct contact, air-borne or material transfer of Fig. Grossly the eyes look normal but careful Clinical picture examination may reveal following signs: Symptoms Congestion of posterior conjunctival vessels. Irritation, smarting sensation and feeling of Mild papillary hypertrophy of the palpebral discomfort in the eyes. History of collection of dirty-white foamy Surface of the conjunctiva looks sticky. Predisposing factors when associated should be Hyperaemia of lid margins near the angles. Topical antibiotics such as chloramphenicol or Presence of foamy mucopurulent discharge at the gentamycin should be instilled 3-4 times a day for angles. Infection is transmitted from nasal cavity to the eyes by contaminated fingers or handkerchief. Prophylaxis includes treatment of associated to hyperendemic trachoma caused by serotypes A, nasal infection and good personal hygiene. Oxytetracycline (1%) eye ointment 2-3 times a eye to eye by transfer of ocular discharge through day for 9-14 days will eradicate the infection. It is also caused ointment at bed time inhibits the proteolytic by Chlamydia trachomatis serotypes A, B, Ba, and C; ferment and thus helps in reducing the but is usually not associated with secondary bacterial maceration.

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During infiammation, neutro this chromosomal defect causes a com phils become activated and migrate into plex inherited syndrome characterized by the tissues where they ingest, kill, and cardiac malformations, thymic hypopla digest invading bacteria and fungi. The 22q deletion has an incidence ited defects in neutrophil function, which of approximately 1 in 2,500 live births. A minority of infected individuals associated with the risk of life-threatening 74 Immunological Aspects of Immunodeficiency Diseases Table 5. Neutrophils are particu action, need to bind tightly to the endothe larly important for maintaining the integ lial surface by a second set of interactions. Poor wound healing and delayed infiammation with granuloma formation umbilical cord separation are typical. Outcome in both conditions is are not troubled by the broad range of poor, with early death. This process is intestinal or genitourinary tract may be a initiated by the stimulation of Toll recep consequence. However, dissem optimal function of the phagocyte oxidase inated life-threatening infections by these system. Rac2 deficiency results in impaired organisms may also occur in the absence of neutrophil mobility and poor superoxide a recognized primary or secondary immu responses to some stimuli. Lesions in these lates actin polymerization, and therefore latter patients are paucibacillary and are cytoskeletal change is required for normal associated with an intact granulomatous platelet and lymphocyte function. The mecha down immune responses triggered by nism by which such regulation occurs viral infections by aiding the elimination of includes activation-induced cell death of antigen-presenting cells or by promoting T lymphocytes, which requires the activa activation-induced death of T cells. Exocytosis accelerated phase as in Chediak of cytolytic granules deficient Higashi syndrome. This condition provides Immunodeficiencies Characterized evidence supporting current concepts on by Increased Liability to Develop the role of T-regulatory cells in preventing Autoimmunity autoimmunity. Apop Autoinflammatory Syndromes tosis thus maintains homeostasis in the immune system by minimizing autoim the responses of acute infiammation and mune reactions to self-antigens, as well fever are protective responses triggered by as limiting the total size of the peripheral infection or tissue damage, acting through lymphocyte pool. However, the clinical significance ciency may be due to complement utiliza of this finding has been disputed. Under physiological conditions, activation of the classical complement pathway helps Factor H Deficiency in the clearance of the circulating immune complexes by the resident macrophages of Complete or partial factor H deficiency the reticuloendothelial system. The surface is associated with the occurrence of the of apoptotic cells activates the classical hemolytic-uremic syndrome, although complement pathway, leading to their effi the precise underlying pathogenic mecha cient clearance by phagocytic cells express nisms are unknown. Recent work has identified defects in pathways involved in the recognition and response C1 Inhibitor Deficiency to pathogen-associated molecular patterns. C1 inhibitor is a serine-protease inhibitor Some of these defects are outlined next. The single normal gene cannot maintain Interleukin-receptor-associated kinase the synthesis of physiologically sufficient 4 mediates signaling downstream of Toll quantities of C1 inhibitor. They are particu dentition, osteopenia, and impaired acute larly susceptible to recurrent pneumococ phase responses during infections. This is Studies in genetically manipulated animals the first example of an immunodeficiency have helped in the development of mecha caused by aberrant chemokine-recep nistic models of antimicrobial immunity. Collectively, form of this receptor shows enhanced these animal studies have highlighted can responsiveness to its ligand. The correction of genetic of innate and adaptive immunity that are defects in conditions where the expression required for homeostasis of the immune of the normal molecule does not provide a response may result in autoimmunity or selective survival advantage will be more autoinfiammatory syndromes rather than difficult and will require the development increased susceptibility to infection, thus of more effective genetic vectors. The innate and adaptive immunity may result contribution of new genetic techniques for in susceptibility to a narrow range of micro elucidating molecular defects underly bial pathogens. Pri bial infections in an individual patient in mary immunodeficiency diseases: an devising a rational approach to the inves update from the International Union tigation of patients with suspected immu of Immunological Societies Primary nodeficiency. Primary Immu Ig replacement therapy (for antibody nodeficiency Diseases: A Molecular and Immunological Aspects of Immunodeficiency Diseases 89 Genetic Approach. Over the years, autoim Autoantibody-mediated autoimmune munity has been recognized as not uncom diseases sometimes can be transmitted mon and not necessarily detrimental. IgG asymptomatic, and autoimmune disease, antibodies/autoantibodies can cross the which occurs when autoimmunity leads to placenta, whereas IgM cannot. Thus, neo an infiammatory response, resulting in tis natal autoimmune diseases are invariably sue injury. In that with cardiac antigens, causing permanent case, disease can be transmitted from one infiammation-mediated damage to the animal to another by transferring antigen cardiac conduction system. Urinalysis revealed no blood 94 Autoimmunity but was remarkable for urobilinogen her anemia, thrombocytopenia, and of 8 mg/dl (normal <2 mg/dl). A review of her phagocytes bearing Fc receptors blood smear showed numerous sphe remove some of the immunoglobulin rocytes (spherical erythrocytes instead on the cell surface along with some of of the usual biconcave disc shape, the the cell membrane, which subsequently result of damage to the red cell mem reseals, causing the erythrocyte to take brane as it passes through the spleen; the form of a spherocyte. If ultrasound of her abdomen revealed a this occurs faster than new erythrocytes normal liver but an enlarged spleen. She was bilirubin (a measure of bilirubin before treated with prednisone (a corticoste the liver has a chance to process it) is roid) at a dose of 60 mg/day. If this is not possible, Autoimmunity 95 corticosteroids such as prednisone are acetylcholine released from a nerve end often used. C3b bound to the sol frequently associated with hypocomple ubilized immune complexes promotes their mentemia (Figure 6. Laboratory testing revealed the next five years, her lupus remained that her creatinine (a measure of renal well controlled with hydroxychloro function) was now abnormally ele quine and intermittent low-dose pred vated at 3. These autoantibodies antibodies were detected at a titer of formed immune complexes, resulting 1:160 using the Crithidia luciliae kineto in the consumption of classical comple plast staining assay (Figure 6. In this case, a fiare of tion, enhanced expression of adhesion disease activity was precipitated by molecules, and increased production of Autoimmunity 99 monocytes by the bone marrow. Delayed Complete blood count was notable for type hypersensitivity in response to the mild anemia (hemoglobin 11. In the case thyroglobulin autoantibodies were of autoimmunity, self-antigens (instead detected. The Her hair and skin seemed to be get B cells make antibodies against thy ting drier. On examination, her thyroid roid antigens, as seen in this patient, gland was mildly enlarged on palpa whereas the T cells produce cytokines tion (Figure 6. A, B, Appearance of goiter (diffusely enlarged thyroid gland); C, ultrasound image showing a transverse view of the right lobe of the thyroid. There are famil tic (activating) antibodies reactive with ial linkages (as seen in this patient). Lupus affects 500,000 Americans at an esti mated annual cost of $13,000 per patient, a total $6. The mean age of onset of the more commonly studied models can also varies widely, with some disorders be reviewed here (see also Table 6. The racial/ethnic differences are spontaneous models afford hope that if likely to refiect differences in the frequen the genetic defect(s) responsible for lupus cies of disease susceptibility genes. The like disease in these mice can be identified, costs of these disorders to society are enor similar defects will be found in human mous. Thus, the sex multiple disease-susceptibility genes and predilection is an important difference several candidate genes have been identi from human lupus and most other murine fied. K/BxN T-cell-receptor transgenic mice the lesions classically occur at different express a transgenic T-cell receptor specific times and in different locations. The to optic neuritis, tremor, ataxia, weakness, resulting synovitis is chronic, erosive, and spasticity, and other neurological symp associated with pannus formation. The disease affects about is thought to be mediated primarily by T 350,000 Americans and about 1.

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This Article describes the unique characteristics of terinations for a fetal abnoralit, their troubling and persistent psychological impacts, and the reasons why they will become more common in fture years. Its overll objective is to ensure that women learing of prenatal genetic abnoralities have access to complete and comprehensible inforation prior to making their decision and adequate support whether or not they choose to terminate. The range of what3 constitutes an abnormality serving as the basis for a genetic termination is considerable. On one extreme are conditions such as anencephaly, in which a ftus never develops certain portions of its brain and skull and in most cases dies during pregnancy or soon after birth. In between are a number of conditions with varying presentations and a wide range of potential quality-of-lif outcomes, such as cystic fbrosis, spina bifda, and Trisomy 21 (Down syndrome). Three-fourths of women cite concern for or responsibility to other individuals; three-fourths say they cannot aford a child; three-fourths say that having a baby would interfere with work, school or the ability to care for dependents; and half say they do not want to be a single parent or are having problems with their husband or partner. For those who would consider having an abortion under some circumstances, however, the choice can be extaordinarily dificult. It diffrs fom stillbirth because the parents themselves have to decide whether the child will live or die. Recognizing the national signifcance of these issues, Congress passed the Prenatally and Postnatally Diagnosed Conditions Awareness Act. More recently, there has been a furry of activity at the state level seeking to address the defciencies of genetic counseling. Moreover, though prenatal genetic counseling currently plays a meaningful role in only a tiny faction of pregnancies, the scale and scope of the psychological challenges bore out of its defciencies will increase manifold in the upcoming years for two reasons. Part I provides an overview of the current role of prenatal genetic screening, testing, and counseling in pregnancy and describes the challenges inherent in deciding whether to bring a genetically anomalous ftus to term. In either case, the serum screening does not provide a defnitive diagnosis, but rather an indication that there is an elevated likelihood of a genetic abnormality, that there might be a problem. Most often, rather than describing the range of potential quality-of-lif outcomes genetically anomalous ftuses might experience, health care providers counsel patients with an emphasis on worst-case scenarios. But as will be shown in the following section, genetic counseling is currently failing expectant mothers, leading to underinfrmed decisions to terminate that can produce long-standing, traumatic outcomes. Underinfored Choices and the Futilit of Nondirectiveness Be it by licensed genetic counselors or otherwise,30 prenatal genetic counseling plays a signifcant role in complicated pregnancies, helping 26 "[F]our of fve women who learn of a diagnostic test that produces positive indications of a genetic abnormality that will manifest symptoms choose abortion. See Kathryn Schleckser, Note, Physician Participation in Direct-to-Consumer Genetic Testing: Pragmatism or Pateralismfi Upon detection of a ftal anomaly, counselors help women decide whether to terminate the pregnancy,31 treat the ftus in utero, or manage the pregnancy and delivery with an eye toward raising a child with a potential disability. The counselor, according to ideology, does not hint, cajole or try to infuence in a direction that is against the indications of the counselee. Given the sheer volume of infrmation that could be conveyed to an expectant mother learing of a ftal abnormality and limited time, the counselor must be selective as to which information she presents. In determining which information to present, counselors must weigh what they perceive to be the potential personal impact (the ability of patients to cope with adversity given the relative strength of their support network), economic impact (the ability of patients to affrd caring for a child with a genetic disorder), and social impact (the stigma that comes along with terminating pregnancy or caring for a child with a genetic disorder) in order to help them decide how to proceed. This trauma is perhaps the greatest cost of prenatal genetic counseling in its current frm and serves as the basis fr the refrms set forth in Part V of this Article.

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Complications Complications are inevitable with the high doses of steroids and immunosuppressive drugs that are needed Fig. The large areas of denuda tion may become infected and smelly, and severe oral ulcers make eating painful. Differential diagnosis Widespread erosions may suggest a pyoderma, impetigo, epidermolysis bullosa or ecthyma. Investigations Biopsy shows that the vesicles are intraepidermal, with rounded keratinocytes fioating freely within the blister cavity (acantholysis). The serum from a patient with pemphigus contains antibodies that bind to the desmogleins in the desmosomes of normal epidermis, so that indirect immunofiuorescence (p. In the Pemphigus is more attacking than pemphigoid rarer pemphigus erythematosus, the facial lesions are and needs higher doses of steroids to control it. Because of the dangers of pemphigus vulgaris, and the difficulty in controlling it, patients should be treated Scalded skin syndrome (p. Resistant and severe cases need very high doses of systemic steroids, such as prednis A toxin elaborated by some strains of S. The dose is dropped only when new blisters stop appear staphylococcus is usually hidden. Treatment needs regular follow-up leading to the development of multitudes of uniformly and is usually prolonged. Often this smaller doses are usually needed, and the use of top occurs after a fever or heavy exertion. Other causes of subcorneal and intraepidermal blistering Subcorneal pustular dermatosis As its name implies, the lesions are small groups of Bullous impetigo (p. The pout out of the skin in a way that suggests they were bullae are fiaccid, often contain pus and are frequently once vesicles (like the vesico-pustules of chickenpox). Acute dermatitis (Chapter 7) Severe acute eczema, especially of the contact allergic type, can be bullous. The varied size of the vesicles, their close grouping, their asymmetry, their odd configurations. Viral infections (Chapter 14) Some viruses create blisters in the skin by destroying epithelial cells. The vesicles of herpes simplex and However, their titre does not correlate with clinical zoster are the most common examples. Presentation Subepidermal immunobullous disorders Pemphigoid is a chronic, usually itchy, blistering dis these can be hard to separate on clinical grounds ease, mainly affecting the elderly. The tense bullae and only the two most important, pemphigoid and can arise from normal skin but usually do so from dermatitis herpetiformis, are described in detail here. Serum from about 70% of patients contains antibodies that bind Pemphigoid is usually self-limiting and treatment can in vitro to normal skin at the basement membrane zone. Complications Untreated, the disease causes much discomfort and Pemphigoid gestationis (herpes gestationis) loss of fiuid from ruptured bullae. Systemic steroids and immunosuppressive agents carry their usual com this is pemphigoid occurring in pregnancy, or in the plications if used long-term (Formulary 2, p. The validity of a possible associ As in pemphigoid, most patients have linear deposits ation with internal malignancy is still debated. The condition usually remits after the birth but may return in future Differential diagnosis pregnancies. It is not caused by a herpes virus: the Pemphigoid may look like other bullous diseases, espe name herpes gestationis should be discarded now so cially epidermolysis bullosa acquisita, bullous lupus that the disease is not confused with herpes genitalis. Oral contracept gestationis, bullous erythema multiforme and linear ives should be avoided. Direct immunofiuorescence antigens are often as in pemphigoid, but other anti shows a linear band of IgG and C3 along the base gens are sometimes targeted such as laminin 5 (in ment membrane zone. The condition differs from pem using serum from the patient, identifies IgG antibodies phigoid in that its blisters and ulcers occur mainly that react with the basement membrane zone in some on mucous membranes such as the conjunctivae, 70% of patients (Fig. Lesions heal with scarring: around the eyes this may cause blindness, especially when the Treatment palpebral conjunctivae are affected (Fig. The In the acute phase, prednisolone or prednisone condition tends to persist and treatment is relatively (Formulary 2, p. Cause Gluten-sensitive enteropathy, demonstrable by small bowel biopsy, is always present, but most patients do not suffer from diarrhoea, constipation or mal nutrition as the enteropathy is mild, patchy and Fig. Absorption of gluten, or another dietary antigen, may form cir culating immune complexes that lodge in the skin. Good eye hygiene and the removal of range of antibodies can be detected, notably directed ingrowing eyelashes are important. Granular deposits of IgA and C3 in the superficial dermis under the basement Linear IgA bullous disease membrane zone (Fig. Blisters arise on urticarial deposits clear slowly after the introduction of a plaques, and are more often grouped, and on extensor gluten-free diet. Linear IgA bullous disease is, as its name urticated papules develop particularly over the elbows implies, associated with linear deposits of IgA and C3 (Fig. Acquired epidermolysis bullosa Course this can also look like pemphigoid, but has two im portant extra features: many of the blisters are a the condition typically lasts for decades. The antigen lies on the complications of gluten-sensitive enteropathy the dermal side of the lamina densa, in contrast to include diarrhoea, abdominal pain, anaemia and, rarely, the pemphigoid antigens, which lie on the epidermal malabsorption. Small bowel lymphomas have been sideaa difference that can be demonstrated when the reported, and the use of a gluten-free diet may reduce basement membrane is split by incubating skin in a this risk. IgA deposits remain in the skin, and the skin disease Differential diagnosis can drag on for many months. Because of this, and the disorder masquerades as scabies, an excoriated because a gluten-free diet is hard to follow and enjoy, eczema, insect bites or neurodermatitis. Small bowel biopsy is no longer recommended as routine because the changes are often patchy. Tests 1 Biopsy non-involved skin to demonstrate the for malabsorption are seldom needed. Adherence to this 3 Dapsone works quickly and a gluten-free can be monitored using the titre of antiendomysial diet only very slowly. Blisters in diabetes and renal disease A few diabetics develop unexplained blisters on their Fig. The mucous membranes may Frusemide (furosemide) can contribute to blister be affected, including the mouth, eyes, and even the formation. Bullous lupus erythematosus Course Vesicles and bullae may be seen in severe active sys the condition usually clears if the offending drug is temic lupus erythematosus (p. New epidermis grows out from hair follicles uncommon and carries a high risk of kidney disease. The dis Non-cutaneous manifestations of systemic lupus ery order may come back if the drug is taken again. Complications Toxic epidermal necrolysis is a skin emergency and Bullous erythema multiforme can be fatal. Whereas carbamazepine or allopurinol (Chapter 22), but can toxic epidermal necrolysis affects adults, the staphy also be a manifestation of graft-vs.

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Balanced reciprocal translocation -9fe7-4849-9cf6-a4108a8cf85e&acdnat=15283 a child with two de novo unrelated balanced at amniocentesis: cytogenetic detection and 13968 95eb00e34a8b4c34a65b45cf17d3d492 reciprocal translocations. Available from: of de novo complex balanced chromosomal de novo apparently balanced complex and ac. Mercier S, Fellmann F, Cattin J, Bresson development of children diagnosed prenatally population structure in Native Americans. Molecular analysis by fiuorescence in with a de novo apparently balanced chromosomal Genet [Internet]. Available from: obgyn findings of a fetus with mosaicism for two Obstet Ginecol [Internet]. Grether-Gonzalez P, Camara-Polanco V, Ulloa diagnosis and postnatal follow-up of an abnormal 43. Balicek P, Juttnerova V, Jarosova M, Fialova Aviles V, Salas-Labadia C, Almanza-Marquez child with two de novo apparently balanced J, Fiedler Z, Kolmanova J. Inversion variants in the human genome: Roberto Quadrelli, physician specializing in role in disease and genome architecture. Social Security and Services for State Workers Niurka Gonzalez-Dominguez, physician spe Am J Hum Genet [Internet]. Evidence for correlation of fragile sites and chromosomal breakpoints in carriers of constitutional balanced Patricia Venegas-Barbosa, physician, National chromosomal. Available from: cializing in clinical genetics, Cytogenetics onlinelibrary. While every effort is made to ensure that the information given here is accurate, no legal responsibility is accepted for any errors, omissions or misleading statements. Please read this booklet as it will help prepare you for discussions with your midwife or doctor and will help you ask the questions that are important to you. This booklet is about the screening tests you will be offered during your pregnancy. We explain what conditions can be screened for and what the screening tests involve. It is important that you understand the purpose and possible results of the screening tests before you decide whether to have them. This is because there can be different specialists responsible for different screening tests. If you need extra care during your pregnancy, your midwife will refer you to an obstetrician or other professional. Options for pregnancy care vary across Scotland, but all professionals involved in your care will work in partnership with you and with each other. Your midwife will offer you regular appointments throughout your pregnancy, but if you have any concerns or worries between appointments, you can make an extra appointment with your midwife or other professional, supported by an interpreter if you need one. Sometimes we may have to rearrange your appointments to make sure of this, and it may not be possible in an emergency. Further information about pregnancy this booklet is about pregnancy screening and diagnostic testing. An interpreter is a person who translates between two people who do not speak the same language. You should let the professional taking care of you know beforehand that you will need an interpreter, and whether you have a preference for a female interpreter. They are usually simple tests (for example, a blood test, ultrasound scan or questionnaire). They do not provide a defnite diagnosis, but help you and your midwife decide whether you need further tests to make that diagnosis. This may involve chorionic villus sampling or amniocentesis (described on page 42), which can be associated with a slightly increased risk of miscarriage (described on page 43). These screening and diagnostic tests help to assess how likely it is that you or your baby have a condition or health problem. All tests that we offer you have been planned carefully to make sure that they are as safe and as accurate as possible. You can decide at any point that you do not want to be tested, or you can choose to have only some of the tests offered to you. The health professional taking care of you will always explain each test in detail, and will never test you without your permission. You may want to discuss these tests with your partner, family or friends, but the fnal decision about screening and diagnostic testing should be yours. Whatever decision you make about screening or diagnostic testing, it will not affect in any way the quality of care that you are offered, or the attitudes of professionals caring for you. If you choose not to be tested, you will not have to explain your reasons for this. We will ask you to sign a form to record that you accept or decline the different tests we offer you, and keep a record of your screening and diagnostic testing results. Only authorised staff and appropriate healthcare professionals will be allowed to see this information. You can fnd detailed information, in English and other languages, on confdentiality, consent and what happens to your health records at Towards the end of your pregnancy, your midwife will talk to you about screening tests for newborn babies and you will receive another booklet, Your guide to newborn screening tests, which explains these in detail. Ask your midwife for more information and a copy of the leafet Your guide to newborn screening tests. Some of the blood tests are to let us know about your blood type and some are for screening. Depending on the results of the screening tests we may also offer you diagnostic testing. These tests and scans are summarised briefy below and then described in more detail in the following sections of this leafet. Blood tests offered during pregnancy We will offer you blood tests that tell us what your blood group is and whether you are anaemic (see page 12). Ultrasound scans in pregnancy Further information about how to prepare for the ultrasound scan, and how it is performed, is provided on page 38. Unfortunately this is not true for everybody, which 9 is why you should read this information carefully and then decide whether you want a scan or not. Please read the section on page 38 carefully, where we tell you about what having a scan involves.


  • Renal agenesis, bilateral
  • Albright Turner Morgani syndrome
  • Synovitis acne pustulosis hyperostosis osteitis
  • Landy Donnai syndrome
  • Neural tube defects X linked
  • Osteogenesis imperfecta congenita microcephaly and cataracts
  • Osteodysplasia familial Anderson type
  • Hydrolethalus syndrome
  • 3C syndrome, rare (NIH)
  • Systemic necrotizing angeitis

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Typical insulating materials include purged rockwool or perlite, rigid foam such as foam-glass or urethane, or vacuum. However, because perfect insulation is not possible heat leakage occurs and the liquefied gas eventually boils away. Uncontrolled release of a cryogen from storage or during handling must be carefully considered at the design stage. Flesh may stick fast to cold uninsulated pipes or vessels and tear on attempting to withdraw it. The low temperatures may also cause failure of service materials due to embrittlement; metals can become sensitive to fracture by shock. The cryogens encountered in greatest volume include oxygen, nitrogen, argon and carbon dioxide. Liquid oxygen Liquid oxygen is pale blue, slightly heavier than water, magnetic, non-flammable and does not produce toxic or irritating vapours. Select storage/service materials and joints with care, allowing for the reduction in ductility at cryogenic temperatures. Glass Dewar flasks for small-scale storage should be in metal containers, and any exposed glass taped to prevent glass fragments flying in the event of fracture/implosion. Large-scale storage containers are usually of metal and equipped with pressure-relief systems. In the event of faults developing (as indicated by high boil-off rates or external frost), cease using the equipment. Provide a high level of general ventilation taking note of density and volume of gas likely to develop: initially gases will slump, while those less dense than air. Possibly provide additional high/low level ventilation; background gas detectors to alarm. With toxic gases, possibly provide additional local ventilation; monitors connected to alarms; appropriate air-fed respirators. Wear face shields and impervious dry gloves, preferably insulated and of loose fit. Wear protective clothing which avoids the possibility of cryogenic liquid becoming trapped near the skin: avoid turnups and pockets and wear trousers over boots, not tucked in. Prior to entry into large tanks containing inert medium, ensure that pipes to the tank from cryogen storage are blanked off or positively closed off: purge with air and check oxygen levels. If in doubt, provide air-fed respirators and follow the requirements for entry into confined spaces (Chapter 13). First aid measures include: Move casualties becoming dizzy or losing consciousness into fresh air and provide artificial respiration if breathing stops. Ensure that staff are trained in the hazards and precautions for both normal operation and emergencies. Thus upon vaporization liquid oxygen can produce an atmosphere which enhances fire risk; flammability limits of flammable gases and vapours are widened and fires burn with greater vigour. Liquid nitrogen and argon Liquid nitrogen is colourless and odourless, slightly lighter than water and non-magnetic. Liquid argon is also colourless and odourless but significantly heavier than water. Gaseous nitrogen is colourless, odourless and tasteless, slightly soluble in water and a poor conductor of heat. Gaseous argon is also colourless, odourless and tasteless, very inert and does not support combustion. In confined, unventilated spaces small leakages of liquid can generate sufficient volumes of gas to deplete the oxygen content to below life-supporting concentrations: personnel can become unconscious without warning symptoms (Chapter 5). Also, because the boiling points of these cryogenic liquids are lower than that of oxygen, if exposed to air they can cause oxygen to condense preferentially, resulting in hazards similar to those of liquid oxygen. The triple point is the pressure temperature combination at which carbon dioxide can exist simultaneously as gas, liquid and solid. Reduction in the temperature and pressure of liquid below the triple point causes the liquid to disappear, leaving only gas and solid. Natural gas is considered non-toxic but can produce an oxygen deficient atmosphere (p. Smaller quantities of gas at high pressure are usually stored in bottle-shaped gas cylinders. They find widespread use in welding, fuel for gas burners, hospitals, laboratories etc. The construction of compressed gas cylinders ensures that, when first put into service, they are safe for their designated use. Serious accidents can, however, result from ignorance of the properties of the gases, or from misuse or abuse. Great care is needed during the transportation, handling, storage and disposal of such cylinders. Compressed gases can often be more dangerous than chemicals in liquid or solid form because of the potential source of high energy, low boiling-point of some liquid contents resulting in the potential for flashing (page 50), ease of diffusion of escaping gas, low flashpoint of some highly flammable liquids, and the absence of visual and/or odour detection of some leaking materials. Compressed gases, therefore, present a unique hazard from their potential physical and chemical dangers. Unless cylinders are secured they may topple over, cause injury to operators, become damaged themselves and cause contents to leak. A further hazard exists when compressed air jets are used to clean machine components in workplaces: flying particles have caused injury and blindness. Cylinders are normally protected by pressure relief valves, fusible plugs or bursting discs. Precautions also have to be instituted to protect against the inherent properties of the cylinder contents. Most gases are denser than air; common exceptions include acetylene, ammonia, helium, hydrogen and methane. Even these may on escape be much cooler than ambient air and therefore slump initially. More dense gases will on discharge accumulate at low levels and may, if flammable, travel a considerable distance to a remote ignition source. For attacked by acids moist gas use stainless steel or certain plastics Carbon monoxide F T Copper-lined metals for Iron, nickel and certain other pressures <34 bar. Certain metals at high pressures highly alloyed chrome steels Carbon tetrafluoride Any common metal Carbonyl fluoride C F T Steel, stainless steel, copper or brass for dry gas. Monel, copper or nickel for moist gas Carbonyl sulphide F T Aluminium and stainless steel Chlorine C T O Extra heavy black iron or Rubber. Magnesium Neoprene or chloroprene alloys and aluminium rubber and pressed fabrics containing >2% magnesium. Iron and steel at ordinary temperatures Cyanogen chloride C T Common metals for dry gas. Glass for moist gas Cyclobutane F Most common metals Cyclopropane F Most common metals Deuterium F Most common metals Diborane F T Most common metals. Reinforced Copper, tin, zinc and their neoprene hose alloys Ethylene oxide F T Properly grounded steel Copper, silver, magnesium and their alloys Fluorine C T O Brass, iron, aluminium, magnesium and copper at normal temperatures. Hydrogen chloride C T Stainless steel, mild steel for Galvanized pipes or brass or normal conditions of bronze fittings temperature and pressure. High pressure Monel or aluminium iron bronze valves Hydrogen cyanide F T Low-carbon steel at normal temp.

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The review of systems should include information present for evaluation, which is why the evaluation decisions about symptoms of airway obstruction, including chronic mouth are so challenging. The physical examination should be complete with 7 during an event, suggesting an element of airway obstruc careful attention to vital signs, head circumference (in infants), tion (obstructive apnea); they may exhibit absence of any respi signs of airway obstruction, skin fndings for bruising or signs of ratory efort (central apnea), or a mixture of both may occur. Airway hemangio between refux events and apneic events has been demon mas are ofen associated with hemangiomas on the face, neck, or strated. Barbiturates, salicy still only useful in determining causality if an event is captured lates, ipecac, boric acid, and cocaine are examples. Neuroimaging should be considered because child abuse is always part of the Airway problems that may lead to apneic events include 9 diferential diagnosis of apnea in children. Polysomnography is the best test to evaluate the severity have been useful studies in the face of a suggestive history or of this problem. Brief, 5-10 second pause in breathing are followed by severity of the event and subsequent clinical fndings may a period of rapid respirations for several seconds; no respira indicate additional testing; careful judgment should be applied tory distress is associated. Children rare but serious disorder of decreased central respiratory with neurologic problems. Apnea, brief Kahn A: Recommended clinical evaluation of infants with an apparent life-threatening event. Muscular chest wall pain is common in weight-lifers, but 4 carrying heavy back packs, severe coughing, and sports involving rotation or twisting can also be causative. Despite the in the intercostal muscles can occur with infection due to cox degree of concern that it generates, the symptom is rarely as sackie and other enteroviruses. The epidemiology of pleurodynia or Bornholm disease) is sudden in onset, paroxys chest pain in youth is not well understood, although available mal, and accompanied by fever and other systemic signs of en data suggest more cases are classifed as idiopathic than are at teroviral infection. Sometimes the illness exhibits a biphasic pattern with a Studies approximate between 1% and 10% of pediatric chest recurrence of the chest pain and fever several days afer the pain cases are due to cardiac etiologies. A properly done history and physical are ofen the only 1 Early puberty may cause chest pain related to breast nodule tools required in the evaluation of pediatric chest pain. Other breast disorders Screening tests are not considered helpful unless specifcally including infections, cystic disorders, pregnancy, and menstrual indicated. A medical history of asthma, sickle cell disease, collagen Pain related to shingles (herpes zoster) may precede the 6 vascular disease, or a recent coughing illness may be helpful. Children afected by hypersensitiv Long-standing diabetes mellitus and chronic anemias are risk ity pain syndromes may complain of pain with light touch to factors for ischemic chest pain. Inquire about a history of Kawa their chest wall, or even with wearing certain clothing; other saki disease, including the possibility of an undiagnosed case. The review of systems should include inquiries about associated acute and chronic symptoms and any precipitating factors. In Chest pain is occasionally the initial presentation of 7 quire about choking episodes, recent trauma, and exercise or asthma. A history of nocturnal cough, atopy or a remote activities that could cause pain from muscle strain or overuse. Broncho It is critical to distinguish a history of exercise (that could cause constriction is ofen reported by children as chest pain. Pro muscular chest wall pain) from exercise as a precipitating factor longed cough (due to acute exacerbations or poor control of (which may be consistent with ischemic pain and mandates an asthma) can lead to soreness of chest wall muscles. Associated syncope is very worri sometimes presents with a complaint of chest pain with run some and also mandates a cardiac evaluation. Chest x-ray fnd history could provide clues to a potentially causative etiology ings are ofen normal, but may reveal hyperinfation, atelectasis, (oral contraceptives) or the possibility of mucosal injury. Stress, anxiety, mood dis with friends and family, and any current stresses or conficts. A family history these diagnoses is impacted by the use (or misuse or nonuse) of of recurrent syncope or unexplained sudden death may suggest appropriate psychological assessments. Heart pact of organic causes of chest pain on patients is also poorly disease in an adult family member may provoke anxiety-related defned, even though it is likely very relevant to patients and chest pain in a younger person. Providers A complete thorough physical exam is necessary; focusing must be cognizant of the importance of using valid assessments on the chest exam may miss fndings pertinent to a noncardiac to diagnose psychological disorders; psychogenic chest pain underlying cause of chest pain. Costochondritis is pain due to infammation of the costo Hyperventilation typically presents with rapid breathing, 2 9 chondral joints (where the bony rib meets the costal carti dyspnea, anxiety, and sometimes with palpitations, chest lage). It is a common cause of chest pain in children and is pain, paresthesias, lightheadedness, and confusion. Careful usually unilateral, sharp, transient in nature, and can be repro evaluation ofen reveals anxiety or underlying psychological duced by palpation on examination. Episodes are brief (30 seconds to 3 minutes), self 3 spondyloarthritis, and stress fractures. Expert opinions 52 Chapter 17 u Chest Pain 53 vary regarding whether this phenomenon is a distinct entity, or if mufed heart sounds, tachycardia, neck vein distention, and it should be considered an idiopathic etiology of chest pain. Infections are rare but serious causes of chest pain in chil 12 Asthma, cystic fbrosis, and connective tissue disorders dren. Chest pain is frequently a prominent symptom in 13 (Marfan syndrome, Ehlers-Danlos syndrome, ankylosing pericarditis; it is usually exacerbated by lying down or with in spondylitis) are risk factors for pneumothoraces. Reproduction of the pain by hooking the fn nodefcient conditions or staphylococcal, anaerobic gram nega gers under the anterior costal margins and pulling the ribs for tive pathogens) also predispose to the development of pneumo ward is characteristic. Forceful vomiting is 17 vary by age; common symptoms in older children and a rare cause of esophageal rupture causing pneumomediasti adolescents are abdominal or substernal pain, vomiting or re num (Boerhaave syndrome). Traumatic or iatrogenic causes gurgitation, increased pain afer meals or when recumbent, and should also be considered. A trial of empiric therapy is appropriate in Movement and deep breathing ofen aggravate the pain children with typical symptoms, although a positive response is 14 associated with pleurisy (pleuritis) or pleural efusions. Eosinophilic esophagitis (EoE) is diagnosed by endoscopic Slipping rib syndrome is characterized by pain along the 20 16 biopsies showing localized eosinophilic infltrates of the lower rib margin of the upper abdomen, sometimes asso esophagus. The condition is being increasingly recognized in all ciated with a slipping sensation and a popping or clicking age groups; abdominal pain and vomiting are more common in sound. Although a clear consensus on the cause of the pain is younger children and dysphagia, chest pain, and food impac lacking, a commonly presumed etiology is that trauma to the tion are more likely in adolescents. Other atopic diseases and eighth, ninth, or tenth rib causes a sprain-like injury, which food allergies are commonly associated. The presentation of congenital coronary artery abnormalities may be subtle or abrupt with few identif Hypertrophic cardiomyopathy is a genetic disorder trans able risk factors. However, children with a history of heart sur 22 mitted in an autosomal dominant pattern, although a large gery. Classic great arteries), congenital heart conditions, or a history of Ka physical examination fndings include a lef ventricular lif and wasaki disease warrant a higher threshold of awareness for risk a harsh systolic ejection murmur that is increased with any of ischemic chest pain. As the development of hyper Coronary artery anomalies are rare but can be associated 24 trophy is gradual over years, examination fndings in children with severe ischemia. The physical examination may be may be limited to nonspecifc murmurs; cardiac evaluation is normal or may include tachypnea, tachycardia, pallor, diapho indicated whenever there is a known family history. Echocardiogram and angiography are used in 23 tated by exercise or running or is associated with syncope diagnosis. Cardiac catheter ization and electrophysiologic studies with invasive monitoring Syncope is the temporary loss of consciousness and tone fol may be necessary in some severe cases. Heart block can be congenital, postsurgical, acquired unusual in children less than 6 years of age. First and second-degree benign in children but must be carefully addressed because it heart block are unlikely to cause syncope. The latter is also associated with congenital breath, nausea, diaphoresis, amnesia, vision changes), and time deafness. Syncope in the absence of pre 7 either occurs in a recumbent position or is associated syncopal symptoms should be approached with a similar level with exercise, chest pain, or palpitations. Personal and family histories of prior episodes diac examination fndings should also be referred for an urgent of fainting are ofen obtained in cases of benign (vasovagal) cardiac evaluation.

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Confocal microscopy demonstrates abnormal epithelial basement membrane protruding into the epithelium, as well as epithelial cell abnormalities and microcysts. Meesmann Corneal Dystrophy this slowly progressive disorder is characterized by microcystic areas in the epithelium. Reis-Bucklers Dystrophy this is dominantly inherited and initially affects the Bowman layer. Opacification of the Bowman layer gradually occurs, and the epithelium is irregular. Lattice Dystrophy this starts as fine, branching linear opacities in the Bowman layer in the central area and spreads to the periphery. The deep stroma may become involved, but the process does not reach the Descemet membrane. Corneal transplantation, usually penetrating keratoplasty but possibly deep lamellar keratoplasty, is common, as is recurrence of the dystrophy in the graft. Granular Dystrophy this usually asymptomatic, slowly progressive corneal dystrophy most often begins in early childhood. Macular Dystrophy this type of stromal corneal dystrophy is manifested by a dense gray central opacity that starts in the Bowman layer. The opacity tends to spread toward the periphery and later involves all depths of the stroma. Histologic examination shows deposition of acid mucopolysaccharide in the stroma and degeneration of the Bowman layer. There are central wart-like deposits (guttata) on Descemet membrane, thickening of Descemet membrane, and defects of size and shape of the endothelial cells. Decompensation of the endothelium may occur, particularly after cataract surgery, and leads to edema of the corneal stroma and epithelium, causing blurring of vision. Histologic examination of the cornea reveals the wart-like excrescences on Descemet membrane. Thinning and pigmentation of the endothelium and thickening of Descemet membrane are characteristics. Endothelial keratoplasty, generally combined with cataract surgery if this has not been performed previously, is indicated once symptoms become troublesome. Posterior Polymorphous Dystrophy this is a common disorder with onset in early childhood. The condition is asymptomatic in most cases, but in severe cases, epithelial and total stromal edema may occur. It is characterized by discrete and elevated oval epithelial opacities that show punctate staining with fluorescein, mainly in the pupillary area. The opacities are not visible grossly but can be easily seen with the slitlamp or loupe. Subepithelial opacities underlying the epithelial lesions are often observed as the epithelial disease resolves. Epithelial keratitis secondary to staphylococcal blepharoconjunctivitis is differentiated from superficial punctate keratitis by its involvement of the lower third of the cornea and lack of subepithelial opacities. Epithelial keratitis in trachoma is ruled out by its location in the upper third of the cornea and the presence of pannus. Many other forms of keratitis involving the superficial cornea are unilateral or are eliminated by the history. The ultimate prognosis is good since there is no scarring or vascularization of the cornea. Long-term treatment with topical corticosteroids may prolong the course of the disease for many years and lead to steroid-induced cataract and glaucoma. Therapeutic soft contact lenses have been used to control symptoms in especially bothersome cases. The patient is usually awakened during the early morning hours by a pain in the affected eye. When the patient attempts to open the eyes in the morning, the lid pulls off the loose epithelium, resulting in pain and redness. Acquired recurrent erosion (traumatic): the patient usually gives a history of previous corneal injury. It is unilateral, it occurs with equal frequency in men and women, and the family history is negative. The recurrent erosion occurs most frequently in the center below the pupil regardless of the location of the previous injury. Recurrent erosion associated with corneal dystrophies: Recurrent erosions of the cornea may be observed in patients with epithelial basement membrane dystrophy, lattice dystrophy, and Reis-Bucklers corneal dystrophy. Recurrent corneal erosion is due to a defect in anchoring of the corneal epithelium between the epithelial basement membrane and Bowman layer, due to faulty hemidesmosome connections. To reduce the risk of recurrence and promote continued healing, a bland ophthalmic ointment at bedtime is used for several months. Therapeutic soft contact lens, needle micropuncture of the Bowman layer, and phototherapeutic keratectomy are useful in cases that do not respond to more conservative management. Careful slitlamp examination is required to detect signs of early stem cell deficiency. These include loss of epithelial cell transparency, abnormal corneal staining, and superficial vascularization. Advanced stem cell deficiency may cause epithelial irregularity with recurrent persistent epithelial defects. The diagnosis can be confirmed by impression cytology, which involves taking samples of epithelial cells by placing filter paper on the cornea. Immunohistochemical staining and microscopy can then identify the cytokeratin expressed in harvested cells and check for the presence of goblet cells. The presence of cytokeratin 3 and 12 indicates normal corneal epithelial phenotype, whereas the presence of cytokeratin 19 along with goblet cells confirms the presence of conjunctival phenotype epithelial cells on the corneal surface. Management of limbal stem cell deficiency includes various techniques of stem cell transplantation, either as a block of autologous limbus from the contralateral eye or allogeneic limbus from a relative or cadaveric donor, or ex vivo expanded stem cell populations generated from small biopsies from these sites. Because of the rapid endothelial cell death rate, the eyes should be enucleated soon after death and refrigerated immediately. For lamellar and deep lamellar keratoplasty, corneas can be frozen, dehydrated, or refrigerated for several weeks; the endothelial cells are not important in these partial-thickness procedures involving the anterior cornea. Diseases, like chemical injuries (see Chapter 19), in which loss of limbal stem cells leads to failure of corneal epithelialization, may benefit from limbal stem cell transplants, from the fellow eye or a donor eye, or amniotic membrane transplants, particularly in preparation for corneal transplantation. For severe corneal disease unsuitable for corneal transplantation, various artificial corneas (keratoprostheses) have been attempted with increasing success. Techniques For penetrating or lamellar keratoplasty, the recipient eye is prepared by a partial-thickness cutting of a circle of diseased cornea, such as with a suction trephine, and full-thickness removal with scissors or partial-thickness removal with dissection. For endothelial keratoplasty, the recipient endothelium is 315 removed using instruments inserted into the anterior chamber. For penetrating keratoplasty, the donor corneoscleral cap is placed endothelium up on a suction Teflon block; the trephine is pressed down into the cornea, and a full-thickness button is punched out. For lamellar, deep lamellar, and endothelial keratoplasty, the process is adapted, using a microkeratome or femtosecond laser to remove the required portion of cornea from a corneoscleral cap or whole globe. Precut tissue for endothelial keratoplasty is now available from eye banks in developed countries. Reducing and managing postoperative astigmatism and corneal graft rejection continue to be major problems, particularly after penetrating keratoplasty (see Chapter 16). Early suture removal guided by topographical mapping can be useful to minimize postgraft astigmatism.

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Most iris and iridociliary melanomas are treated by surgical excision (iridectomy, iridocyclectomy) or plaque radiotherapy. There is no compelling evidence that any method of treatment of primary uveal melanomas improves survival. There are no natural history data of survival in uveal melanoma that encompass the entire spectrum from extremely small asymptomatic lesions of uncertain pathologic nature to frankly malignant tumors filling much or all of the eye. In the absence of such information, there is no valid standard against which to judge effectiveness of any treatment. It has been suggested that the longer survival of patients with smaller tumors at the time of treatment demonstrates that treatment is effective if provided early enough, but there are no comparative clinical trials comparing survival in treated versus untreated primary uveal melanomas of any defined size category. Although mean survival is longer if limited metastasis is detected by presymptomatic surveillance than if there is symptomatic, advanced metastasis at detection, there is no evidence that aggressive treatments, such as surgical metastasectomy or hepatic artery infusion chemotherapy, at any stage provide clinically significant improvement in survival. Uveal Metastasis of Nonophthalmic Primary Cancer Nonophthalmic primary cancers can metastasize hematogenously to the uvea. Clinically apparent uveal metastasis typically is off-white to pink to gold (most carcinomas) or to dark brown (skin melanomas). Although the most frequent situation is a solitary metastatic tumor in one eye (80% of cases), about 20% of patients will have two or more discrete metastatic tumors in one or both eyes. If left untreated, most uveal metastases enlarge measurably within days to a few weeks. Multinodular metastasis to the iris and inferior anterior chamber angle from primary lung cancer, causing distortion of the pupil. Unifocal homogeneously creamy colored metastasis to the choroid from primary breast cancer. The nonophthalmic primary cancers that most commonly give rise to clinically detected uveal metastases are breast cancer in women, lung cancer in men, and colon cancer in both groups. Uveal metastasis from nonophthalmic primary cancer is the most common malignant intraocular neoplasm. At autopsy, approximately 90% of patients dying of metastatic disease have at least microscopically evident metastatic cells within ocular blood vessels and/or other intraocular tissues, but only about 10% of such patients have uveal tumors that an ophthalmologist might be expected to 371 detect by clinical examination. Many of these patients are likely to have developed their clinically detectable uveal metastatic disease during the final phase of their illness. Only about 50% experience symptoms that prompt clinical evaluation resulting in detection of the uveal metastatic disease. Because the eye embryologically is an outgrowth of the brain, metastatic tumor to the eye should be regarded as metastasis to the brain. About 20% of patients with a metastatic tumor in one or both eyes will have a concurrent intracranial metastasis detectable by computed tomography or magnetic resonance imaging scan. The median survival following detection of uveal metastasis is approximately 6 months, ranging from 12 months in breast cancer to 3 months in skin melanoma. Treatment for symptomatic uveal metastasis usually consists of palliative external beam radiation therapy, chemotherapy appropriate to the type of cancer, or both. Primary Uveal Lymphoma Primary uveal lymphoma is a relatively uncommon but important subcategory of primary intraocular lymphoma. Most cases of primary intraocular lymphoma are characterized by accumulation of malignant lymphoid cells in the vitreous (usually bilaterally), beneath the retinal pigment epithelium, and sometimes within the sensory retina, and are associated with antecedent, concurrent, or subsequent lymphoma in the brain and cerebrospinal fluid (see Primary Vitreoretinal Lymphoma in Chapter 10). This form of lymphoma bears more similarity to primary conjunctival lymphoma (see Chapter 5) than to primary vitreoretinal lymphoma. Rarely, predominantly vitreoretinal disease can be caused by systemic B-cell lymphoma. The lymphoid cells infiltrating the uvea in primary uveal lymphoma tend to be more abnormal in morphologic appearance on microscopy than those associated with atypical lymphoid hyperplasia (see above). Germinal centers within the uvea are unlikely, and immunohistochemical staining and flow cytometry tend to show a more monoclonal character to the cells. As in primary vitreoretinal lymphoma, the lymphoid cells are usually of B-cell lineage. B-scan 372 ultrasonography shows generalized choroidal thickening (sometimes with locally accentuated prominence) in diffuse cases, and ultrasound biomicroscopy confirms the solid soft tissue character of iris and iridociliary infiltrates. The retina usually remains attached or shows limited shallow detachment in areas of choroidal infiltration, but progressive disruption of retinal pigment epithelium overlying the infiltrates develops in many cases. There may be focal or diffuse pink anterior epibulbar masses reminiscent of primary conjunctival lymphoma and/or posterior peribulbar extraocular soft tissue masses that may only be evident on B-scan ultrasonography, but epibulbar lesions are more common in atypical lymphoid hyperplasia (see above). Diffuse uveal lymphoid infiltration of primary uveal lymphoma, with focal accentuation temporally. Treatment of primary uveal lymphoma usually consists of fractionated external beam radiation therapy, typically resulting in prompt, sustained clinical regression. If vision is poor prior to treatment, it may not recover even if all of the uveal infiltrates regress completely. In aggressive, neglected, or misdiagnosed cases, the eye can become blind and painful with congestive features and diffuse intraocular bleeding that can necessitate enucleation. About 20% of patients with primary uveal lymphoma develop systemic lymphoma, so all affected patients should be monitored for systemic disease. The shape is, in part, maintained by the presence of the intraocular contents and the intraocular pressure. However, the sclera must be rigid enough to provide relatively constant conditions for the intraocular pressure so that, when the eyeball is moved, the intraocular pressure does not fluctuate. In addition, the opacity of the sclera ensures that internal light scattering does not affect the retinal image and the sclera must protect the intraocular contents from injury. Conditions that lead to alterations of these properties may result in changes to vision and eventually, in very severe cases, destruction of the globe with significant or total loss of vision. Apart from potentially being affected by local factors, the sclera may also be involved in systemic conditions and may be the first manifestation of such problems. The onset is almost always sudden, with the eye becoming red and uncomfortable within an hour of the start of the attack. Patients may also report heat, ocular surface discomfort and irritation, and tenderness. In nodular cases, one or more nodules can develop, and the redness tends to progress over a few days, but is always confined to the nodules, which may also become quite tender. There is no involvement of the underlying sclera, and keratitis and uveitis are uncommon. In most cases the cause is unknown, but an association with a local or systemic disorder, such as gout, ocular rosacea, atopy, infection, or collagen vascular disease can be found in up to one-third of the patients. Even though episcleritis can cause great distress and is unsightly and uncomfortable, there are no long-term complications in simple disease, and in nodular disease, complications are rare and confined to changes in the adjacent cornea and sclera after multiple attacks at the same location. Many patients become aware of warning symptoms prior to the onset of disease, and in such cases, the frequent use of topical corticosteroids may be beneficial. In the absence of a known etiology, treatment can include the use of 375 chilled artificial tears and eventually topical corticosteroids in more intense cases. In the presence of a local or systemic disorder, the treatment becomes specific and directed to the underlying condition. The use of systemic corticosteroids is usually restricted to cases associated with an underlying collagen-vascular disease. Patients over the age of 60 years have a greater likelihood of more severe disease and of developing complications including visual loss.


  • https://wjh-www.harvard.edu/~dtg/Gilbert%20et%20al%20%28IMMUNE%20NEGLECT%29.pdf
  • http://ologyjournals.com/beij/beij_00005.pdf
  • https://www.piab.ie/eng/forms-guidelines/Book-of-Quantum.pdf
  • https://www.nature.com/articles/bmt2016181.pdf?origin=ppub
  • https://www.nber.org/namcs/docs/namcs2014.pdf

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