Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032285 (pneumonia)
 54,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A previously unrecognized autosomal dominant syndrome affecting oral, nasal, vaginal, urethral, anal, bladder, and conjunctival mucosa with cataracts, follicular keratosis, nonscarring alopecia, and terminal lung disease is described in a four-generation kindred of German extraction. Severe photophobia, tearing, and nystagmus in infancy heralds the development of keratitis, corneal vascularization, and lens cataracts. Repeated corneal transplants have failed. Red, periorificial mucosal lesions involving the above structures are noted by 1 year of age and may persist throughout life. Chronic rhinorrhea and repeated upper respiratory infections frequently progress to bilateral pneumonia accompanied by loss of hair, diarrhea, occasional melena, enuresis, pyuria, and hematuria. Spontaneous pneumothorax is frequent, terminating in fibrocystic-type lung disease and cor pulmonale. Women have had repeated abnormal vaginal PAP smears. Histologically the mucosal epithelium shows dyshesion, thinning of the epithelial layer, and dyskeratosis. Mucosal PAP smears show lack of epithelial maturation, cytoplasmic vacuoles and inclusions, and individual cell dyskeratosis. Histochemically there is a lack of cornification and keratinization. Ultrastructural studies show lack of keratohyalin granules, a paucity of desmosomes, intercellular accumulations, cytoplasmic vacuolization, and formation of bands and aggregates of filamentous fibers and structures in the cytoplasm resembling desmosomes and gap junctions. The condition is probably a panepithelial cell defect of desmosomal and gap junction structure most prominently affecting mucosal epithelia associated with an increased susceptibility to a variety of adventitious organisms.
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PMID:Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation. 48 50

The results of treatment of 41 children with vesical exstrophy were analysed. Four types of surgeries were performed: 1) transplantation of Lieutaud's triangle into the sigmoid (n = 19); 2) its transplantation into the semi-isolated part of the sigmoid (n = 7); 3) ureteral transplantation into the sigmoid (n = 3); 4) the formation of the urinary bladder and ureter from the adjacent tissues (n = 12). In the first group 2 children died, 6 patients had no clinical signs of chronic renal or ureteral inflammation for the period of 5-17 years, the remaining 11 patients had pyelonephritis. In the second group 5 children were apparently healthy for 1-3 years after the operation, one child developed pyelonephritis, one child died from pneumonia. In the third group 2 patients were apparently healthy 1.5-2 years after the surgery, 1 child developed pyelonephritis. A great number of complications such as sutural incompetence followed by fistulization or enuresis made the authors avoid the fourth type. Thus, while forming an urointestinal anastomosis, preference is given to transplantation of Lieutaud's triangle or ureters proper into the semi-isolated segment according to the antireflux methods, if there are strictures in their distal portions.
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PMID:[The treatment of bladder exstrophy]. 239 42

Mild personality problems have been described in patients with juvenile myoclonic epilepsy (JME), but clinical practice shows that JME can be diagnosed in patients with more or less severe psychiatric disorders (PD). The presence in JME patients of personality disorders has been described repeatedly, but never quantified. We thus decided to evaluate, using the DSM IV, the current prevalence and types of PD in a large series of consecutive, newly referred patients with JME. Among 170 consecutive JME cases referred to two departments of epileptology (Marseilles and Nice) between 1981 and 1998 (66 males, 104 females; aged 11.7-70; mean+/-SD 32.4+/-10.4 follow-up 12.7+/-10 [0.5-52]), we found 45 patients (26.5p.100) with PD. According to the DSM IV, they could be classified as severe mental retardation (main diagnosis) (one case); pervasive developmental disorders (2 cases); tic disorder (1 case); enuresis (1 case); psychotic disorders (5 cases, including schizophrenia paranoid type (1 case), disorganized type (1 case), delusional disorder (1 case), unspecified (2 cases)); depressive disorders (3 cases); generalized anxiety (6 cases); anorexia nervosa (2 cases); personality disorders (24 cases, including borderline personality (11 cases), dependent personality (5 cases), histrionic personality (2 cases), obsessive-compulsive personality (1 case), not specified (5 cases)). Sudden unexplained death occurred in 2 cases (borderline personality and pervasive developmental disorder not otherwise specified, respectively) and death due to pneumonia in 1 cases (anorexia). Although uncommonly severe cases of JME may have been selected in our referral centers, it appears that JME may be associated with PD. Comparatively mild personality disorders are the most common finding, and may be part of the clinical picture to some extent, while severe PD are less common, and probably coincidental. The presence of PD does not exclude the diagnosis of JME, and PD may represent a further challenge in the comprehensive care of these patients.
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PMID:[Psychiatric disorders in juvenile myoclonic epilepsy]. 1131 92