Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Meconium peritonitis most often is associated with congenital intestinal obstruction and meconium ileus. Uncommonly, other etiologies are identified. Hyperimmunoglobulin E syndrome (Job's syndrome) is a rare genetic disorder that is characterized by recurrent staphylococcal respiratory and skin infections in addition to elevated serum IgE levels. There have been 2 previously reported cases of intestinal complications associated with Job's syndrome. The current case is the third such case and is the first report of meconium peritonitis in a patient with hyperimmunoglobulin E syndrome. The patient presented with a meconium thorax as a result of a concurrent congenital diaphragmatic hernia.
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PMID:Meconium thorax: A case of Bochdalek hernia and cecal perforation in a neonate with Job's syndrome. 1191 36

49, XXXXY syndrome is a rare sex chromosomal disorder. A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical hernia, microphallus, and mild clenched hands. Chromosomal studies via techniques of G-banding and fluorescence in situ hybridization showed the constitution to be 47, XXXXY in all cells. Ventriculomegaly and congenital cardiac defects (patent ductus arteriosus, atrial septal defect, and peripheral pulmonary stenosis) were noted. He has severe atopic dermatitis with high IgE levels and psychomotor retardation. After heart surgery and nutritional support, he has better growth and the rehabilitation program is continuing.
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PMID:49, XXXXY syndrome. 1550 79

Hyper IgE Syndrome (HIES) is a rare multi system genetic immunodeficiency disorder, with immunological and non-immunological features. Immunolgical features are 1) Recurrent cutaneous abscesses, 2) Atopic dermatitis like lesions, 3) Sino pulmonary infections, 4) Elevated serum IgE levels and 5) Abnormal neutrophil chemotaxis. Non immunological features include cranio facial and skeletal abnormalities. We are reporting a girl with classical features of HIES with umbilical hernia with her younger brother suffering from right sided inguinal hernia, as both herniae are hitherto unreported in patients with HIES.
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PMID:Hyper IgE syndrome with umbilical hernia. 2010 44