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)

The results of a clinical investigation of 27 males with the fragile X are reported; the age range was from 1 to 77 years. The medical history in pre-, peri- and early post-natal life was unremarkable. Birth weights tended to be above average. In infancy hypotonia and a large head were often found, together with retarded development. Macroorchidism was almost uniformly found after puberty, but apparently not often before. The facial features in the grown-up males were characteristic, confirming previous reports. Minor abnormalities of feet and hands were seen. Mental retardation was often in the moderate range, but all degrees were seen. Psychiatric symptoms were frequently seen, and one child was diagnosed as autistic. A developmental profile is outlined.
J Ment Defic Res 1983 Sep
PMID:Diagnosis of the fragile X syndrome (Martin-Bell syndrome). Clinical findings in 27 males with the fragile site at Xq28. 663 46

Between 1970 and 1975 166 iridectomies were performed in cases of primary glaucoma. In the retrospective study reported here the authors analyzed the results with regard to the regulation of intraocular pressure (IOP) and loss of function. Follow-up examinations were performed (1) between 6 weeks and 6 months, (2) 12 months, (3) 1.5 to 2.5 years and (4) 3 to 4 years after surgery in patients whose IOP was not adequately regulated. Hypotonia was rare. Of the eyes with acute narrow-angle glaucoma with an open iridocorneal angle by definition, which underwent surgery for the first time, 30% had an IOP of more than 21 mm Hg with or without additional tension-lowering medication (20% between 22 and 24 mm Hg, 10% over 24 mm Hg). The results for eyes operated on for the second time were better because of the prophylactic iridectomies in this group. In one-third of the cases the iridocorneal angle was occluded; in two-thirds an open angle was found. An analysis revealed that regulation was better when the previous tension level had been high, while lower tension levels, of between 20 and 35 mm Hg, often remained elevated after surgery. Out of the total number of eyes operated on for the first time (narrow-angle and open-angle glaucoma) IOP was regulated by iridectomy alone in 54% after 1 year and in 33% after 2 years. With regard to the iridocorneal angle of these 33%, it was found that 50% of the cases of narrow-angle glaucoma were regulated without further medication, but only 20% of the open-angle cases.(ABSTRACT TRUNCATED AT 250 WORDS)
Klin Monbl Augenheilkd 1983 Sep
PMID:[Results of iridectomy in narrow-angle and open-angle glaucoma. A retrospective study]. 664 55

A 5-month-old female with the Coffin-Siris syndrome is described. Characteristic features included prenatal and postnatal growth retardation, slight mental retardation, feeding and respiratory problems, microcephaly, hypotonia, full lips, congenital heart disease, hypoplasia of the distal phalanges of the fifth fingers and toes. She underwent successful primary closure of a ventricular septal defect at 8.5 months of age, weighing 5.0 kg. After the operation, the feeding and respiratory problems disappeared, and growth and development were well maintained.
Helv Paediatr Acta 1980 Sep
PMID:The Coffin-Siris syndrome: a case report. 719

We studied a boy with macrocephaly, hypotonia, pigmentary retinopathy, unilateral whorled hypopigmented skin lesions, and seizures. Skin biopsy confirmed the clinical diagnosis of hypomelanosis of Ito. Postmortem examination at age 22 months revealed a severe neuronal migrational defect that altered the cerebral cortex architecture of white matter. There were many gray matter heterotopias characterized by altered neurons and giant cells. Electronmicroscopy revealed the astrocytic nature of the giant cells. Embryologic migration of both melanoblasts from neural crest and cortical neurons occurs in the second trimester, suggesting a common mechanism for the developmental pathology of skin and brain.
Neurology 1982 Sep
PMID:Hypomelanosis of Ito (incontinentia pigmenti achromians)--a clinicopathologic study: macrocephaly and gray matter heterotopias. 720 48

The analysis of lethal outcomes and complications following the reconstruction of the abdominal aorta and iliac arteries has shown that in the small and large intestines of 6 patients (12,6%) among 225 operated upon there were deep morphological alterations of the ulcero-necrotic type. The main cause of intestinal ischemia and severe enteropareses following the reconstructive operations on the aorto-iliac segment was found to be a continuous hypotonia and reduced capacitance blood flow in the system of celio-mesenterial arteries. Prophylactic measures against hypotensive reactions during the operations and in the postoperative period in combination with peridural blockade, decompression of the intestine, administration of sorbitol and other drugs are of great significance in the prevention of intestinal ischemia, severe postoperative gastro-enteropareses following reconstructive operations on the abdominal aorta and iliac arteries.
Vestn Khir Im I I Grek 1980 Sep
PMID:[Intestinal ischemia after aortoiliac reconstructions]. 742 10

We describe a 1-year-old boy with a rare de novo 46,XY/47,XY, + i(5p) mosaicism (ratios 28/3 in peripheral blood lymphocytes and 2/12 in skin fibroblasts). The boy, born after a pregnancy of 34 weeks, had lung hypoplasia, persistent hypotonia, and postnatal growth failure. Craniofacial anomalies were also present. His clinical manifestations correspond to those described in trisomy 5p patients. Prenatal diagnosis on maternal age indication had shown normal male chromosomes in 16 cells in the short term culture of a chorionic villus sampling. Retrospectively, 1 out of 217 cells in this culture showed the i(5p). Several mechanisms could have resulted in the formation of this 46/47, + i(5p) mosaic. Postzygotic local incorrect ligation during chromatid replication, followed by a second replication offers an attractive model on theoretical grounds since it needs only one step to explain both isochromosome formation and mosaicism. Differences between the various tissues in selection pressure on cells with the isochromosome might explain the different ratios of mosaicism found.
Am J Med Genet 1993 Sep 15
PMID:Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY/47,XY, + i(5p)]. 750 82

The clinical distinction between patients with a disorder of peroxisome assembly (e.g., Zellweger syndrome) and those with a defect in a peroxisomal fatty acid beta-oxidation enzyme can be difficult. We studied 29 patients suspected of belonging to the latter group. Using complementation analysis, 24 were found to be deficient in enoylcoenzyme A hydratase/3-hydroxyacylcoenzyme A dehydrogenase bifunctional enzyme and 5 were deficient in acyl-CoA oxidase. Elevated plasma very long-chain fatty acids (VLCFA), impaired fibroblast VLCFA beta-oxidation, decreased fibroblast phytanic acid oxidation, normal plasmalogen synthesis, normal plasma L-pipecolic acid level, and normal subcellular catalase distribution were characteristic findings in both disorders. The elevation in plasma VLCFA levels and impairment in fibroblast VLCFA beta-oxidation were more severe in bifunctional-deficient than in oxidase-deficient patients. The clinical course in bifunctional deficiency (profound hypotonia, neonatal seizures, dysmorphic features, age at death approximately 9 months) was more severe than in oxidase deficiency (moderate hypotonia without dysmorphic features, development of a leukodystrophy, age at death approximately 4 yr). Based on these findings, accurate early diagnosis of these deficiencies of peroxisomal beta-oxidation enzymes is possible.
Ann Neurol 1995 Sep
PMID:Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies. 766 38

Fryns syndrome is a rare autosomal recessive disorder characterized by diaphragmatic hernia and multiple anomalies. Almost all infants have died at birth, and survivors have had severe mental retardation. The authors report on a family in which three children had diaphragmatic hernia diagnosed prenatally. The first child died of severe pulmonary hypoplasia in the neonatal period. The second survived after diaphragmatic hernia repair, and was found to have Fryns syndrome based on the spectrum of associated anomalies and the family history. He has done well except for significant gastroesophageal reflux, mild developmental delay, and mild hypotonia. The third child's diaphragmatic hernia was diagnosed early during fetal life, and the parents chose to terminate the pregnancy. These cases illustrate the spectrum of Fryns syndrome and the importance of a family history in patients with congenital diaphragmatic hernia. This is the first report of survival of a patient with Fryns syndrome without severe mental retardation.
J Pediatr Surg 1994 Sep
PMID:Fryns syndrome: a rare familial cause of congenital diaphragmatic hernia. 780 64

Prader-(Labhart-)Willi syndrome (PWS) is characterized by infantile hypotonia, early childhood obesity, mental deficiency, short stature, small hands and feet and hypogonadism. In 70% of the cases this syndrome is associated with a defect of chromosome 15 at 15q11-q13, close to the location of the 7B2 gene (15q13-q14). The majority of the remaining PWS patients display maternal uniparental disomy on chromosome 15. Since the 7B2 gene products are expressed in neuroendocrine cells that are probably affected in PWS, e.g. by a pleiotrophic influence of the neighboring deletion, the presence of 7B2 was studied in the supraoptic and paraventricular nucleus of the hypothalamus of five subjects clinically diagnosed as PWS patients using five antibodies against various parts of the 7B2 precursor polypeptide. Three of the five PWS patients studied showed no reaction to the 7B2 antibody MON-102, whereas all 30 control patients did. However, one of the three MON-102 non-reacting PWS patients reacted to other 7B2 antibodies. In conclusion, the vanishing of 7B2 gene products is not obligatory for PWS, possibly due to the variable genetic background of PWS patients. However, in most patients there is a clear modification of 7B2 expression, pointing to altered neuroendocrine functions.
Brain Res 1994 Sep 19
PMID:Differential expression of the neuroendocrine polypeptide 7B2 in hypothalami of Prader-(Labhart)-Willi syndrome patients. 782 Jun 29

The approach to the etiology of neuropsychiatric disorders can be made by different ways. Among them, the role of thyroid hormones is considered prominent nowadays. The authors report the case of a five year-old boy with congenital hypothyroidism in association with developmental disorders which were manifested by psychomotor retardation, mainly in speech, hypotonia and bilateral hearing loss. Comments are made on the role of hormonal control for a good clinical response, particularly on attention and psychomotor activity.
Arq Neuropsiquiatr 1994 Sep
PMID:[Thyroid hormones in the symptomatology of neuropsychiatric diseases. Report of a case]. 789 22


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