Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0728731 (prematurity)
 7,134 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypertrophic pyloric stenosis can be diagnosed accurately by physical examination alone. However, ultrasonographic confirmation is obtained in the majority of cases, often before clinical evaluation by the surgeon. The present study examines whether the easy access to ultrasonography by the primary physician has affected the care of infants with pyloric stenosis. During a 24-month period, 100 infants were treated for pyloric stenosis at the authors' institution. There were 78 boys and 22 girls; the age range was 9 to 90 days (median, 30.0 days). The children were referred for surgical evaluation, but abdominal ultrasonography was ordered concomitantly (or within 1 hour of surgical consultation) in all cases. The median age at the onset of the first symptoms was 24.0 days. The time between onset and hospital admission was less than 7 days for 72 patients, and more than 2 weeks for seven. Metabolic alkalosis or acidosis, hypokalemia, hypochloremia, and dehydration were noted in 10%, 5%, 3% and 9%, respectively. Six infants had prolonged pre- and postoperative courses, because of prematurity (4) or associated conditions (2). For the remaining patients, total hospitalization period and postoperative stay were 3.8 +/- 0.9 days and 2.8 +/- 0.6 days, respectively. Although the diminished importance of clinical skills in the diagnosis of pyloric stenosis may be regrettable, the availability to the primary care physician of this easy, safe, inexpensive, and reliable imaging modality may contribute to prompter treatment. The patients were hospitalized, with a correct diagnosis, within days of the appearance of the initial symptoms. Because so little time had elapsed, water and electrolyte imbalances were not present, and the patients could be operated on within hours of admission.
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PMID:Pyloric stenosis in the age of ultrasonography: fading skills, better patients? 904 58

Bartter syndromes are defined as a family of inherited recessive autosomal tubulopathies. They are characterized by hypochloremia, hypokalemia, metabolic alkalosis associated with potassium renal leakage and normal blood pressure despite increased plasma renin activity. Three forms of the disease are identified as followed: 1) Gitelman syndrome or hypocalciuria hypomagnesemia syndrome is a mild form often discovered in childhood or teenagers in reason of tetany. It is an homogeneous disorder related to mutations of the genes encoding the thiazide-sensitive Na-Cl cotransporter located in the distal convoluted tubule. 2) Antenatal Bartter syndrome with hypercalciuria and nephrocalcinosis or hyperprostaglandin E syndrome is a severe form, often revealed by hydramnios, prematurity and growth delay. It is related to mutations of two types of genes encoding for transporters of Henle's loop: the bumetanide-sensitive cotransporter Na-K-2Cl (NKCC2) [type I] or the inwardly-rectifying potassium channel (ROMK) [type II]. 3) the classical form or type III Bartter syndrome, often revealed by dehydration in the first year of life, is associated with hypomagnesemia in 20% of cases and normal or increased calciuria. This form is related to mutations of CLCNKB gene encoding for a chloride channel in Henle's loop. This classification, in part related to the demonstration of mutations in the genes encoding for tubular chloride or potassium channels, does not fit all cases, overlapping syndromes are frequent. Moreover some endocrinological (diabetes) and neurological (deafness) abnormalities are sometimes associated with Bartter syndromes. Both phenotypic and genetic approach must help to the diagnosis of these tubulopathies.
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PMID:[Bartter's syndromes]. 1061

Congenital chloride diarrhea (CCD) is a rare hereditary disease, with a prenatal onset, secondary to a deficit in the intestinal chloride transport. In the present study, we describe the clinical characteristics of three patients with congenital watery diarrhea, two of them females, aged between 9 and 14 months at the first visit. All patients presented perinatal antecedents of polyhydramnios and prematurity, watery stools since birth and growth failure. Metabolic alkalosis, hypokalemia and hypochloremia were found. Stool ionogram with elevated doses of chloride, exceeding both sodium and potassium, confirmed the diagnosis of CCD. Substitute treatment with sodium and potassium chloride was started with good results. CCD should be considered as a differential diagnosis to congenital watery diarrhea, since early diagnosis and appropriate treatment are mandatory for the normal development of the child, avoiding severe complications such as neurological sequelae and even death.
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PMID:[Congenital chloride diarrhea]. 1612 86