The oral-facial-digital syndrome: a male-lethal condition in a boy with 47/xxy chromosomes.
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Cerebral Angiography↗
Biomedical subjects
M Berant
Publications and source records attributed to M Berant.
Heterotopic duodenal mucosa in the stomach.
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Biopsy↗
Midterm clinical impact versus procedural success of balloon angioplasty for pulmonary artery stenosis.
The objective of this study was to determine the procedural success rate of balloon angioplasty for branch pulmonary artery stenosis in terms of its clinical impact on the subsequent management of these patients. Most previous studies of balloon angioplasty have concentrated on the initial success rate (50-60%), complications (6-10%), recurrence rate ( approximately 15%), and technical issues. A favorable clinical impact was noted in only 35% of patients. Over a 3-year period (March 1990 to March 1993), 32 patients (17 boys, 15 girls) underwent 34 balloon angioplasty procedures. Their mean age at dilation was 7.6 +/- 4.3 years (range 1.1-19.0 years). Postoperative tetralogy of Fallot and tetralogy of Fallot with pulmonary atresia were the most frequent cardiac lesions (44%). The procedures were "technically" successful in 56% (19 of 34) of balloon dilations on the basis of at least two of the following criteria: an increase of >50% of the predilation diameter; an increase of >20% in the relative flow to the affected lung by radioisotope study; or a decrease in the systolic right ventricular/aortic pressure ratio from 85-100% to <60%. Twelve percent of the patients had transient complications (two deep vein thromboses, one unilateral pulmonary edema, and one pneumothorax). In 17 of 19 (89%) of the patients there was a favorable clinical impact on their subsequent care as based on one of the following criteria: resolution of the stenosis and avoidance of surgical intervention (n = 14); optimization of future surgical procedure (n = 3); reduction in right ventricular pressure to <60% of aortic pressure (n = 13). Five patients who had unsuccessful balloon angioplasty and one with initially successful balloon angioplasty later underwent endovascular stent placement, which also favorably influenced their clinical status. The success rate of balloon angioplasty for branch pulmonary artery stenosis, when measured by strict procedural criteria, is accompanied by a favorable clinical impact in more than 50% of patients. Hence this procedure should be the initial therapeutic modality in this setting despite the relatively high transient complication rate. The use of endovascular stents probably increases the favorable clinical impact.
Adolescent↗
Ethnicity and prevalence of scleroderma-like syndrome: a study of Arab and Jewish Israeli insulin-dependent diabetic children.
Scleroderma-like syndrome (SLS) may represent the earliest apparent diabetes complication in insulin-dependent diabetic (IDDM) patients. To evaluate the frequency of SLS and its association with other diabetes-related pathology in our diabetic population, we studied 153 (127 Jewish and 26 Arab) IDDM patients and 45 healthy age- and gender-matched controls (25 Jewish, 20 Arab). The mean age and diabetes duration of the patients were 14.09 +/- 5.1 years and 51 +/- 45 months, respectively. While no diabetes-related pathology was found in the controls, SLS was detected in 47% of all patients (skin, 31.4%; arthropathy, 37.9%; both, 22%), and nephropathy, neuropathy, and retinopathy were present in 10.5%, 5.2%, and 4.6%, respectively. Independent of age, SLS directly correlated with diabetes duration (p < 0.01) and with the presence of either nephropathy or neuropathy (p < 0.009 and p < 0.005, respectively). One or more features of systemic diabetic involvement were present in 22% of patients with SLS, compared to only 7.2% in patients without SLS (p < 0.009). When patients were analyzed according to ethnicity, the frequency of skin involvement and neuropathy were found to be higher among Arab patients, particularly males (p < 0.002 and p < 0.005, respectively), and detection of one was significantly associated with the presence of the other (p < 0.001). In conclusion, our results suggest that SLS is the most common diabetic complication among Jewish and Arab IDDM patients, and its presence may reflect an inherited tendency to develop other serious diabetic complications. Ethnicity (Arab) by itself, particularly when associated with male gender, seems to accelerate neurological and dermatological diabetic involvement.
Adolescent↗
Effect of infusion of bile salts into the mesenteric artery in situ on jejunal mucosal transport function in dogs.
We studied the effects of increased circulating levels of bile salts on jejunal mucosal function in dogs. In situ luminal perfusion of a 30-cm proximal jejunal segment was performed while deoxycholate, cholate, taurodeoxycholate, or taurocholate solutions were directly added to the mesenteric arterial supply, reaching the intestinal wall at successive concentrations of 5, 8, 12, and 22 mumol/L. The transport rates of water, sodium, glucose, fructose, glycine, and lysine were measured. The mucosa of the experimental loop was assayed for ATPase activity, and examined by light and electron microscopy. Deoxycholate at 8 microM in the blood supply of the perfused jejunal segment was associated with a significant (p less than 0.02) reduction in the absorption rates of water, sodium, glucose, and glycine, and inhibition of mucosal Na+, K+-ATPase. The absorption of fructose and lysine, and brush border enzyme activities, were not affected. Cholate had a similar effect at 12 microM. There were no obvious histological alterations, but electron microscopy showed swelling of mitochondria in the enterocytes. The reduction in mucosal transport, the inhibition of mucosal Na+, K+-ATPase, and the mitochondrial swelling were reversed after discontinuation of the bile salt infusion. The taurine conjugates at 22 microM depressed transport of water and sodium only, and did not inhibit Na+, K+-ATPase. Our study indicates that increased circulating concentrations of unconjugated bile salts, particularly deoxycholate, may impair Na+, K+-ATPase-related jejunal mucosal function.
Animals↗
Fever and neutropenia in children with malignant disease.
Treatment of episodes of fever and neutropenia in pediatric hematology-oncology patients includes hospitalization and administration of intravenous antibiotics until the patient is afebrile and no longer neutropenic. The present analysis characterizes retrospectively febrile episodes in neutropenic pediatric hematology-oncology patients with regard to frequency of documented infections, organisms associated with these infections, efficacy of a standardized antibiotic regimen, and safety of early antibiotic discontinuation under defined conditions. A total of 149 pediatric febrile neutropenic episodes were identified during a 4-year period between 1990 and 1994. These occurred in 47 male and 19 female patients, of a mean age of 7.6 years (range 0.5-15). The most frequent diagnoses were leukemia (41% of patients), lymphoma (21%), rhabdomyosarcoma (7%), soft tissue sarcoma (5%), Ewing's sarcoma (5%), and osteosarcoma (4%). Infection was certain in 36% of febrile episodes, probable in 14%, and not determined in 50%. Patients with severe neutropenia (absolute neutrophil count < 100) had a slightly, although not significantly higher incidence of documented and probable infection (57%). Patients with solid tumor had documented infection in 40% of their febrile episodes, and the detection rate in the children with leukemia was 31% (P < .20) Blood cultures were positive in 21 (14%) of 149 episodes. Staphylococci (both coagulase-negative and coagulase-positive strains) and Pseudomonas were the organisms most frequently isolated (six episodes each). Mouth and throat (11), lungs (10), and skin (10) were the next most frequent sites of localized infection. Initial treatment consisted of piperacillin and amikacin or of vancomycin and amikacin when the source of fever was thought to be an infected central line catheter, with addition of amphotericin B by the seventh day of treatment when fever with neutropenia persisted or upon clinical suspicion of underlying fungal infection. There was a single fatality, of a patient with Burkitt's lymphoma. Antibiotics were discontinued when initial blood cultures had no growth after at least 48 hours and no source of infection was found, the blood count was improving, and if the patient became afebrile and clinically well. No patient needed readmission during the fortnight that followed discontinuation of antimicrobial therapy. Patients with negative blood cultures under defined conditions, as described above, could safely be discharged early, thus shortening the duration of intravenous antibiotic therapy and hospital stay.
Adolescent↗
Hypercalciuria in chronically institutionalized bedridden children: frequency, predictive factors and response to treatment with thiazides.
Calcium and creatinine concentrations were analyzed in urine samples of 42 chronically institutionalized bedridden children, with neurologic disorders. Their ages ranged from 2 to 16 (mean 8.7) years. Hypercalciuria, defined as UCa/UCr ratio greater than 0.21, was recognized in 18 children (42.8%), the mean UCa/UCr ratio of this group was 0.40 +/- 0.18. Twenty-four children were normocalciuric, with a mean UCa/UCr ratio of 0.08 +/- 0.03. There were no significant differences between the two groups with regard to age, sex, length of institutionalization, the basic neurologic disorder, diet, anticonvulsive medications, exposure to sunlight and weekly hours of physiotherapy. Age- and sex-matched percentiles for fat and muscle areas were similar in both groups. Seven limb fractures had occurred in the hypercalciuric group during the last three years, but only in one of the normocalciuric patients (p less than 0.02). The hypercalciuric children were treated with a hydrochlorothiazide-amiloride preparation for three weeks, which resulted in reduction of their mean UCa/UCr ratio by 57.7%, to 0.17 +/- 0.13 (p less than 0.005); only four children remained hypercalciuric. We conclude that resorptive hypercalciuria is common among chronically immobilized bedridden children. Hypercalciuria in such children should be specifically looked for, because of its association with deranged bone metabolism and increased frequency of limb fractures. Treatment with thiazides was found to be efficient in reducing urinary calcium excretion in our hypercalciuric patients. This therapeutic modality for the reduction of morbidity in bedridden chronically immobilized children should be further explored.
Adolescent↗
Hyperchloremic metabolic acidosis as a clue to recto-urethral fistula in an infant with anal atresia.
An infant with high anal atresia and transverse colostomy, in whom initial radiologic evaluation of the urinary tract had been normal, developed hyperchloremic metabolic acidosis at 24 days of age. Gastroenteritis and renal tubular acidosis as possible causes for this metabolic disturbance were excluded, which prompted a repeat investigation of the possibility of a communication between the urinary tract and the rectum. A recto-urethral fistula was demonstrated by urethrography. Analysis of the fluid obtained from the left colon as compared to urine in the bladder and voided urine demonstrated that electrolyte exchange was taking place in the colon, resulting in hyperchloremic hypokalemic acidosis. Treatment with oral sodium bicarbonate and daily lavage of the left colon resulted in normalization of the acid-base status and catch-up growth of the baby. Hyperchloremic acidosis associated with anal atresia and recto-urinary communication appears to be uncommon. However, early diagnosis and treatment of the metabolic derangement are of importance as it may determine the infant's overall prognosis.
Acidosis↗