Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Botulism is a rare but severe disease. Whereas until 1980, only one case of botulism had been reported in our department, in 1999, a real botulism epidemic took place in Morocco. To our knowledge, it's the first outbreak of that kind in Morocco. We report here an epidemiologic and descriptive study of 11 patients suffering from botulism, admitted at the Infectious Diseases department and in the Medical Intensive Care Unit of Ibn Rochd University Hospital, from August, the 10th to October, the 1st, 1999. Clinical diagnosis of botulism was made, at the admission, on ocular signs (diplopia, ptosis), swallowing troubles and/or muscle weakness. There was no fever, no trouble of conscience and normal reflexes, at the early stage of the disease. The average age of patients was of 23.9 years +/- 12.07. Three patients were first admitted in the Medical Intensive Care Unit. The period before symptom appearance varied between 7 and 96 hours. Dysphagia sore throat, dry mouth and dysphonia were always found in all patients, with normal conscience. The fever was noted in 3 cases, polypnea in 3 cases leading to respiratory assistance in 2 cases. Neurologic findings were dominated by ptosis and hypotonia. The search of botulism toxin B in blood was positive in 6 cases. The electromyography showed clear signs of botulism. The evolution was favourable in 10 cases. Respiratory complications were found in 2 cases and infectious complications in 4 cases. One patient died. The period of hospitalization varied between 10 to 24 days with an average stay of 15.8 days. Eating "mortadella" has been noticed in 7 patients) and investigations permitted to identify the factory of "mortadella" as well as the toxin's type B responsible for these poisoning. It appears clearly that it is important to reinforce hygiene controls. Physicians and specialists in public health must be aware of the severity of this illness, knowing that the recovery is shortened when the treatment is administered on an early stage of the disease.
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PMID:[Botulism in Casablanca. (11 cases)]. 1259 77

PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In isolated PREPL deficiency, previously described only once, the absence of cystinuria complicates the diagnosis. Therefore, we developed a PREPL blood assay and further delineated the phenotype.MethodsClinical features of new subjects with PREPL deficiency were recorded. The presence of PREPL in lymphocytes and its reactivity with an activity-based probe were evaluated by western blot.ResultsFive subjects with isolated PREPL deficiency, three with hypotonia-cystinuria syndrome, and two with atypical hypotonia-cystinuria syndrome had nine novel alleles. Their IQs ranged from 64 to 112. Adult neuromuscular signs included ptosis, nasal dysarthria, facial weakness, and variable proximal and neck flexor weakness. Autonomic features are prevalent. PREPL protein and reactivity were absent in lymphocytes from subjects with PREPL deficiency, but normal in the clinically similar Prader-Willi syndrome.ConclusionPREPL deficiency causes neuromuscular, autonomic, cognitive, endocrine, and dysmorphic clinical features. PREPL is not deficient in Prader-Willi syndrome. The novel blood test should facilitate the confirmation of PREPL deficiency.
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PMID:PREPL deficiency: delineation of the phenotype and development of a functional blood assay. 2872 5