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)

120 cases of the Williams-Beuren syndrome were collected by 11 cardiological centres in France, to determine the incidence of the various clinical signs and to obtain information on its aetiology, outcome and treatment. The selection criteria for inclusion in the series was typical facies. No particular complications were reported during pregnancy. Boys were a little more affected than girls. The birth weight was low and problems, especially digestive, often occurred in the first months. Cardiac signs were usually detected from the first year, although the exact diagnosis was usually made later on. 3/4 patients had subaortic stenosis, which was severe in 1/3 cases. Involvement of the branches of the aorta was not looked for systematically: the incidence (1/5 cases) found was lower than the true figure. Half the patients also had stenoses on branches of the pulmonary artery, but only rarely were they severe. These vascular malformations often seem to be progressive and, over a 10 year period, half the patients deteriorated. Many extracardiac abnormalities were reported. The most frequently encountered were inguinal and/or umbilical hernia. Surgery on the subvalvular stenosis gave good results in over 80 p. 100 cases; operative mortality was about 10 p. 100. Surgery should be performed before irreversible coronary or myocardial lesions develop. The study of the previous history did not give any new information on the cause of the syndrome, whose association with idiopathic hypercalcaemia of infancy is emphasised once again.
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PMID:[120 cases of the Williams and Beuren syndrome]. 677 59

Ectopic and/or supernumerary parathyroid glands are a major cause of persistent and recurrent Hyperparathyroidism (HPT). For this reason, it is widely accepted that preoperative localization should be performed to improve the surgical results in patients with persistent or recurrent HPT. Primary HPT (pHPT) was diagnosed incidentally in a 50-year old female patient during a preoperative examination for hernia. No pathologic parathyroid gland was detected in the preoperative Tc-99m Methoxybutylisonitrile (MIBI) scintigraphy and Ultrasonography (US). Cervical exploration was performed bilaterally. Four parathyroid glands were located adjacent to the thyroid gland. A fifth was detected in front of the cricoid cartilage. All five of them were of normal histology. Postoperatively, hypercalcemia persisted. Single Photon Emission Computed Tomography (SPECT) was performed before the second operation and radioguide surgery was carried out by median sternotomy. SPECT showed a parathyroid adenoma in the middle of the anterior mediastinum which was excised (size 1x0.5x0.5 cm) using a gamma probe. In conclusion, SPECT and intraoperative gamma probe application may help to detect the parathyroid adenomas, especially if they are small in size and buried in the adipose tissue. Such localization shortens the duration of the operation and reduces the possibility of complications.
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PMID:Supernumerary ectopic parathyroid glands. Persistent hyperparathyroidism due to mediastinal parathyroid adenoma localized by preoperative single photon emission computed tomography and intraoperative gamma probe application. 1957 Jul 42

Subcutaneous fat necrosis of the newborn (ScFN) is an uncommon condition of neonates and infants. The disorder is caused by generalized and local tissue hypoperfusion. The ScFN tends to improve spontaneously with or without some severe complications such as hypercalcemia. The ScFN may occur as iatrogenic after hypothermic surgical interventions. We present iatrogenic ScFN in a newborn with uncomplicated hypercalcemia due to cold exposure on operating table during at an umbilical cord hernia operation. To our knowledge, this is the first report of a patient in whom ScFN occurred during a commonly performed and relatively short-term "nonhypothermic" operation.
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PMID:Post-operative subcutaneous fat necrosis in a newborn: a case report. 2184 53

Objective: To explore the clinical phenotypes and the genetic cause for a boy with unexplained growth retardation, nephrocalcinosis, auditory anomalies and multi-organ/system developmental disorders. Method: Routine G-banding and chromosome microarray analysis were applied to a child with unexplained growth retardation, nephrocalcinosis, auditory anomalies and multi-organ/system developmental disorders treated in the Department of Pediatrics of Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology in September 2015 and his parents to conduct the chromosomal karyotype analysis and the whole genome scanning. Deleted genes were searched in the Decipher and NCBI databases, and their relationships with the clinical phenotypes were analyzed. Result: A six-month-old boy was refered to us because of unexplained growth retardation and feeding intolerance.The affected child presented with abnormal manifestation such as special face, umbilical hernia, growth retardation, hypothyroidism, congenital heart disease, right ear sensorineural deafness, hypercalcemia and nephrocalcinosis. The child's karyotype was 46, XY, 16qh+ , and his parents' karyotypes were normal. Chromosome microarray analysis revealed a 1 436 kb deletion on the 7q11.23(72701098_74136633) region of the child. This region included 23 protein-coding genes, which were reported to be corresponding to Williams-Beuren syndrome and its certain clinical phenotypes. His parents' results of chromosome microarray analysis were normal. Conclusion: A boy with characteristic manifestation of Williams-Beuren syndrome and rare nephrocalcinosis was diagnosed using chromosome microarray analysis. The deletion on the 7q11.23 might be related to the clinical phenotypes of Williams-Beuren syndrome, yet further studies are needed.
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PMID:[Diagnosis of a case with Williams-Beuren syndrome with nephrocalcinosis using chromosome microarray analysis]. 2793 97