Rare Diseases

Congenital Diaphragmatic Hernia

7 Interesting Facts of Congenital Diaphragmatic Hernia  Congenital diaphragmatic hernia is a diaphragmatic defect, present since birth, that allows herniation of abdominal organs into the thoracic cavity Most cases are identified at routine prenatal ultrasonography; postnatal presentation is with respiratory distress beginning acutely after birth Uncommonly, condition is asymptomatic in neonatal period and presents later …

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Craniopharyngioma

Craniopharyngioma  Craniopharyngiomas are tumors arising from squamous cell remnants of Rathke pouch, located in the infundibulum or upper anterior hypophysis. Synonym Subset of nonadenomatous pituitary tumors Epidemiology & Demographics The point prevalence of this tumour is approximately 1/50,000. Predominant Sex: •Both sexes are usually equally affected. •Craniopharyngiomas are the most common nonglial tumors in children …

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Cyclic Vomiting Syndrome (CVS)

Cyclic Vomiting Syndrome (CVS) Cyclic vomiting syndrome (CVS), an idiopathic disorder primarily seen in children, is characterized by recurrent, stereotypical episodes of vomiting with varying asymptomatic periods. Epidemiology & Demographics Incidence & Prevalence •Cross-sectional study of school-age children in Aberdeen, Scotland, estimated that 1.6% fulfilled diagnostic criteria. •Average age of time of diagnosis: 9.6 yr. •Average …

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Lymphogranuloma Venereum

6 Interesting Facts of Lymphogranuloma Venereum  Lymphogranuloma venereum is a sexually transmitted infection caused by specific serovars of Chlamydia trachomatis. With penile, urethral, or vulvar inoculation, the main presentation is an inguinal syndrome (also known as classic or bubonic lymphogranuloma venereum). With rectal inoculation, the main presentation is proctitis or proctocolitis (primarily in men who have sex with men), although …

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Still Disease

6 Interesting Facts of Still Disease 1. Still Disease consists of several subgroups with different clinical characteristics, pathogenesis, and responses to therapy. 2. Systemic JIA (sJIA) symptoms include quotidian fever, rash, and arthritis, which respond best to interleukin (IL)-1 and IL-6 inhibition. 3. Oligoarticular JIA is characterized by young age of onset, female predominance, positive antinuclear antibody (ANA) …

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Wegener Granulomatosis

10 Interesting Facts of Wegener Granulomatosis Granulomatosis with polyangiitis, formerly known as Wegener granulomatosis, is characterized by necrotizing granulomatous inflammation with necrotizing vasculitis affecting predominantly small to medium vessels in adults older than 55 years Primarily involves the upper and/or lower respiratory tract and kidneys; may also affect skin, eyes, central nervous system, joints, and …

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Granuloma Annulare

Granuloma Annulare  Granuloma annulare (GA) is a chronic, usually self-limited, inflammatory disorder of the dermis that classically presents as arciform to annular plaques located on the extremities. Synonyms Pseudorheumatoid nodule—subcutaneous granuloma annulare GA Epidemiology & Demographics •Most common in children and young adults; most cases of localized GA are diagnosed in patients <30 yr •Female …

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