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Biomedical subjects

A Rachmel

Publications and source records attributed to A Rachmel.

At least 37 records · Page 2Linked to original sources
PubMed1991

Fructose-1,6-diphosphatase deficiency in Israel.

The clinical and biochemical data on nine patients belonging to six families with fructose-1,6-diphosphatase deficiency are reported. Two of the six families were Jewish, three were Moslem Arabs and one was of Druze origin. All patients had had neonatal hypoglycemia, lactic acidosis and an abnormal fructose or glycerol loading test. At a later age, instances of hypoglycemia occurred in patients both with and without preceding illness. Hypoglycemic attacks were associated with severe hyperuricemia and metabolic acidosis. Therapeutic measures included a restriction in fructose intake and avoidance of prolonged fasting, particularly during febrile episodes.

Consanguinity↗
PubMed1990

Subtotal gastrectomy in infancy for perforating necrotizing gastritis.

Necrotizing gastritis is a rare pathology causing a high rate of morbidity and mortality in the infants. A 4-week-old baby, with right hypoplastic kidney and ectopic ureter, was admitted because of profound septic shock and "coffee ground" vomitus. Aggressive treatment was started and hemodynamic stabilization was achieved. On the fourth admission day, ascites was noted and on the eighth day in a plain abdominal x-ray, free air was shown. At urgent explorative laparotomy, double posterior gastric wall perforations with extensive gastric wall necrosis were found, which required subtotal gastrectomy. The etiology and pathophysiology of this rare process are discussed with an emphasis on the difficulty in diagnosis of posterior gastric perforation into the lesser sac.

Escherichia coli Infections↗
PubMed1990

Transient renal acidification defect during acute infantile diarrhea: the role of urinary sodium.

We studied urinary acidification daily during the hospital course of 16 infants with acute gastroenteritis and metabolic acidosis. Urine pH value on admission was higher than 5.5 in 14 (87%) patients. We hypothesized that inappropriate urinary acidification was due to sodium deficiency and inadequate sodium delivery to the distal nephron. Forty-one urinary samples were collected during metabolic acidosis. The mean pH of 24 urine samples with sodium concentration less than 10 mmol/L was significantly higher than the pH of 17 samples with sodium concentration greater than 10 mmol/L (6.04 +/- 0.06 vs 5.19 +/- 0.1; p less than 0.001). The urine ratios of titratable acid to creatinine and of total acidity to creatinine were significantly higher in urine samples containing more sodium (p less than 0.02), whereas the ammonium/creatinine ratio was not. After administration of furosemide or correction of the sodium deficit, appropriate acidification was observed. We conclude that impaired urinary acidification is frequently found during metabolic acidosis in infants with acute gastroenteritis and results from a sodium deficit rather than from transient distal renal tubular acidosis.

Acidosis, Renal Tubular↗
PubMed1989

[Vestibular dysfunction and deafness complicating mumps parotitis].

A 9-year-old boy developed severe positional vertigo, unsteadiness, vomiting and nystagmus during active mumps parotitis. Audiometric examination showed complete right sensorineural hearing loss. Brain stem evoked response to audiometric stimulation of the left ear was normal, but was absent on stimulation of the right ear. CT scan of the brain was normal. While vestibular symptoms gradually improved during 1 week, the deafness on the right was permanent. Acute vestibulitis during mumps is very rare, but permanent unilateral deafness might be a much more common, severe, persistent complication than is generally believed. Such cases call for an urgent change in Israel's vaccination policy so that vaccination against mumps is included.

Audiometry↗
PubMed1989

Alagille syndrome associated with moyamoya disease.

A 22-month-old girl with the typical manifestations of Alagille syndrome presented with acute right hemiparesis. Cerebral angiographic studies demonstrated the presence of complete occlusion of both internal carotid arteries with the formation of a collateral network of vessels compatible with the diagnosis of Moyamoya disease. This rare association has not been reported previously.

Arterial Occlusive Diseases↗
PubMed1989

Failure of etretinate therapy in twins with severe congenital lamellar ichthyosis.

We cared for twin females with severe lamellar exfoliation of the newborn (collodion babies) and a family history of death of two brothers at age 3 months. The twins were given a controlled trial of etretinate (Ro 10-9359, Tigason) after not responding to other therapeutic modalities. One of the infants received 1 mg/kg body weight of the drug for 24 hours, while her identical twin sister did not have the medication. Monthly skin biopsies taken from both patients during nine months of therapy did not demonstrate any histologic difference under light microscopy. The clinical course in both infants was basically the same. Etretinate plasma level measurements proved that the drug was absorbed from the gastrointestinal tract. We conclude that in the very severe forms of congenital lamellar ichthyosis, oral retinoids may fail to produce any beneficial effects.

Administration, Oral↗
PubMed1988

Hydrocortisone resolves persistent neonatal jaundice in multiple hormone deficiencies.

Association of prolonged neonatal cholestasis with hypoglycemia, small penis and congenital hypothalamo-hypopituitary derangement is presented. The infant's jaundice was unresponsive to thyroxine replacement therapy but resolved rapidly with hydrocortisone therapy. The time relationships between persistent jaundice and thyroxine and cortisol deficiencies are discussed.

Adrenocorticotropic Hormone↗
PubMed1987

Cystinosis phenotypes have identical defective cystine clearance pattern.

Exposure of cultured skin fibroblast of normal, infantile nephropathic, juvenile-late-onset and adult type cystinotic patients and their corresponding obligate heterozygotes to 0.5 mmol/l of 35S cystine dimethyl ester for 30 minutes, resulted in an accumulation of cystine within the cells, and was used to look for differences in cystine clearance between the different cell types. The results suggested that all cystinotic variants are defective in their capacity to eliminate cystine to the same extent. The presented data imply that, separate clinical phenotypic variants of cystinosis, cannot be differentiated biochemically by the assay of cystine egress.

Adult↗
PubMed1986

The inducibility and ontogeny of rat liver UDP-glucuronyltransferase toward furosemide.

Furosemide (F) conjugation with glucuronic acid is the main pathway of F metabolism in humans and experimental animals. In order to study rat liver microsomal UDP-glucuronyltransferase (UDP-GT) activity towards F we developed an in vitro assay in which the conjugation product, furosemide 1-0-acyl glucuronide (FG) was separated and quantitatively determined by reverse phase high pressure liquid chromatography. The optimal conditions of the reaction were established and the apparent Km for F and UDP-glucuronic acid (UDPGA) were 0.22 and 1.76 mM, respectively. Substrate inhibition of UDP-GT toward F occurred at F concentrations higher than 1.5 mM. Developmental changes in F glucuronidation were compared to the ontogeny of UDP GT activity toward two other acceptors, 1-naphthol and estrone that are known to have different patterns of maturation. F glucuronidation was 26% of adult activity at 18 days of gestation, reached 48% at birth and gradually increased to 250% of adult activity at 22 days of age. Glucuronidation of 1-naphthol and estrone attained 87% and 44% of adult activity at 22 days of gestation, 37% and 66% in six-day-old rats and 100% and 427% of adult activity in 22-day-old rats, respectively. The effect of 3-methylcholanthrene (3-MC), phenobarbital (PB) and pregnenolone-16 alpha-carbonitrile (PCN) on F UDP-GT was studied and compared to their effect on 1-naphthol and estrone glucuronidation. PB, 3-MC and PCN increased F-UDP-GT activity to 208%, 282% and 342% of vehicle-treated animals, respectively, while F pretreatment did not affect the conjugation of F. In comparison, 1-naphthol glucuronidation was preferentially induced by 3-MC (4.4-fold of control) while estrone glucuronidation was induced by PB and PCN (4.9- and 2.5-fold of control, respectively). These studies suggest that several forms of UDP-GT activities, which differ in their ontogeny and inducibility patterns, are involved in the glucuronidation of F in vitro.

Animals↗
PubMed1986

Direct measurement of TP/GFR: a simple and reliable parameter of renal phosphate handling.

As the Walton-Bijvoet nomogram for estimating renal phosphate (P) threshold (TmP/GFR) is not applicable to children of all ages, we sought an alternative method for measuring renal handling of P. Recognizing that the nomogram represents an indirect correlation between TmP/GFR and TP/GFR under fasting conditions, we examined this directly in 26 children. An excellent correlation was found, expressed as TmP/GFR = (fasting TP/GFR X 1.1) -0.3 (r = 0.95). The regression line in adults, expressed as TmP/GFR = (fasting TP/GFR X 1.4) -0.9 (calculated from published studies) is markedly different at the higher values typical for children. Since no advantage could be seen in the use of a mathematically derived TmP, we investigated the direct use of measured TP/GFR (tubular P reabsorption per 100 ml glomerular filtrate) as a measure of renal P handling in clinical practice. No differences were found between morning fasting and nonfasting values. Measurements in 151 healthy subjects aged 3 days to 53 years established normal values in relation to age. The use of this parameter in patients is shown to accurately reflect defects and changes in renal P handling. We believe it to be the preferred parameter because it represents a directly measured physiologic function applicable to all age-groups.

Adolescent↗