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Biomedical subjects

M Berant

Publications and source records attributed to M Berant.

At least 19 recordsLinked to original sources
PubMed1992

[Masturbation in infancy simulating convulsive disorder].

We describe a 7-month-old girl referred for evaluation of a convulsive disorder. The tentative diagnosis of epilepsy was based on what were apparently paroxysmal events which occurred many times during a day. A cousin had suffered from infantile spasms and is mentally retarded. The episodic "attacks" in our patient consisted of sudden rhythmic body movements, crossing of thighs, altered awareness, glassy stare and profuse sweating. While the attacks subsided spontaneously, they could easily be aborted by changing the infant to a sitting position or by picking it up and holding it, when it would revert to completely normal behavior. A detailed history and personal observation of the "attacks" made it clear that they were really physical manifestations of masturbation. The diagnosis of epilepsy was therefore discarded. Awareness of masturbation in infants is essential for establishing the correct diagnosis, and spares infants and families many superfluous investigations and the anxiety associated with a diagnosis of convulsive disorder in children.

Diagnosis, Differential↗
PubMed1992

Balloon dilation of pulmonary venous pathway obstruction in an infant after the mustard procedure.

Pulmonary venous pathway obstruction developed after a Mustard procedure in an infant with transposition of the great arteries. The stenosis was successfully dilated by the percutaneous balloon technique with immediate clinical, echocardiographic, and hemodynamic improvement, which has persisted for 8 months after dilation. This technique is a feasible alternative to reoperation in such an obstruction, even in infants.

Angioplasty, Balloon↗
PubMed1992

Plasma lipoproteins and monocyte-macrophages in a peroxisome-deficient system: study of a patient with infantile refsum disease.

Hypocholesterolaemia in infantile Refsum disease (IRD) may link peroxisomes and lipoprotein metabolism. In our patient, plasma cholesterol levels were reduced to 26% and 29% of control in LDL and HDL fractions, respectively. Plasma apolipoproteins B-100 and A-I levels were 52% and 66% of controls, respectively. In the kindred, plasma cholesterol concentration was 61-73% of controls. The HDL-cholesterol/apo A-I ratios were: patient 0.12; kindred 0.17; controls 0.28. Analysis of the IRD patient's lipoprotein revealed compositional abnormalities in all fractions. The patient's LDL demonstrated a substantial reduction in its lipid-to-protein ratio. Alterations in plasma lipoproteins affect their interaction with macrophages. Upon incubation of the patient's LDL with J-774 macrophages, its cellular uptake, measured as cholesterol esterification rate, was only 66% of a control rate. The abnormal LDL of the IRD patient showed also only 25% of control susceptibility to in vitro oxidation. Studies of cellular cholesterol metabolism in the patient's monocyte-derived macrophages (MDM) showed 57% increased cholesterol esterification rate in comparison to normal MDM. The possible link between lipoprotein abnormalities and monocyte-macrophage cholesterol metabolism is discussed.

Animals↗
PubMed1992

Lung perfusion scans in patients with congenital heart defects.

In 63 patients with various congenital heart defects, lung perfusion was evaluated with technetium-99mm macroaggregated albumin. Right lung perfusion abnormalities were documented in 34 patients (54%). A particularly high incidence occurred in patients who had undergone a systemic to pulmonary artery shunt operation as an initial palliative procedure or who had had right ventricular outflow reconstruction and in those with bilateral pulmonary artery stenosis. Serial studies were helpful in evaluating the functional results of different transcatheter interventions for optimizing pulmonary blood flow. The quantitative relative perfusion radionuclide method was a more sensitive means of detecting cases of abnormal lung perfusion than was chest radiology.

Cardiac Catheterization↗
PubMed1992

Osteomyelitis of the femoral neck caused by a pencil stab wound.

A unique case of osteomyelitis of the femoral neck of an eleven-year-old boy, following a stab wound by a lead pencil, with reactive synovitis of the hip joint is presented. The clinical course simulated that of acute septic arthritis and was diagnosed by various imaging modalities. Following operation and systemic antibiotic treatment, the patient improved dramatically. The role of sonography in the presence of inflammatory conditions around the hip joint is emphasized.

Anti-Bacterial Agents↗
PubMed1992

Effect of iron deficiency on small intestinal permeability in infants and young children.

Small intestinal absorptive function can be disturbed in iron deficiency. We examined the permeability behavior of the small intestinal mucosa toward lactulose and rhamnose in 26 otherwise healthy children with iron deficiency. Their (mean +/- SD) age was 21 +/- 8.6 months; hemoglobin 7.9 +/- 0.9 g/dl, mean corpuscular volume (MCV) 60.1 +/- 3.4 fl, serum iron 2.72 +/- 0.66 mumol/L, serum ferritin 7.3 +/- 1.6 micrograms/L. After an isotonic oral load of both sugars, their 5-h urinary excretion was measured by gas-liquid chromatography/mass spectrometry. The ratio of the percentage of urinary recovery of the sugars [lactulose/rhamnose (%)] was determined as the permeability index. The tests were repeated in the same subjects after 3 months of iron supplementation, and achievement of an iron sufficient state. In the iron-deficient state, the permeability index was significantly higher than the standard normal value (0.15 +/- 0.05 versus less than 0.07; p less than 0.01), but was not different from normal when the children had attained a normal iron status. The major factor for the alteration of the permeability index in the children with iron deficiency was a significantly lower urinary recovery of rhamnose (which passes the small intestinal epithelium by a transcellular route); the recovery of lactulose (which passes through a paracellular route) was not affected by iron deficiency. Our study indicates that iron deficiency in infants and young children can alter permeability characteristics of the small intestinal mucosa. Iron status should therefore be considered when interpreting permeability tests in the young.

Anemia, Hypochromic↗
PubMed1992

Synovial sarcoma associated with osteofibrous dysplasia. A case report and review of the literature.

We report on a 14-year-old boy who demonstrated an unusual association between osteofibrous dysplasia and synovial sarcoma. This case suggests that a patient who presents with osteofibrous dysplasia of the tibia can eventually develop a malignant musculoskeletal tumor in the same anatomical location (same limb). This experience suggests that a patient who presents with osteofibrous dysplasia should be followed up for the possibility of a coexisting synovial sarcoma in the same leg.

Adolescent↗
PubMed1992

Rare variant of truncus arteriosus with intact ventricular septum and hypoplastic right ventricle.

A three week old girl was admitted to hospital with severe congestive heart failure and cyanosis. Cross sectional and Doppler echocardiography and cardiac catheterisation showed a unique variant of truncus arteriosus with an intact ventricular septum. The trunk rose only from the left ventricle and was associated with a hypoplastic right ventricle with sinusoids to the right coronary artery.

Cardiac Catheterization↗
PubMed1992

Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder.

This article describes two siblings with infantile Refsum disease (IRD) whose initial presentation was that of malabsorption and mimicked a-beta- or homozygous hypo-beta-lipoproteinemia. Failure to recognize IRD in the first-born child precluded proper genetic counseling and prenatal diagnosis in subsequent pregnancies and also caused considerable delay in diagnosing IRD in the second child. The clinical heterogeneity of peroxisomal disorders constitutes a diagnostic challenge, which demands a high degree of awareness from the part of the clinician. This is particularly the case with IRD, where protracted diarrhea with low serum cholesterol levels appears to be a frequently occurring initial feature during the 1st months of life.

Abetalipoproteinemia↗
PubMed1992

Idiopathic infantile hypercalcemia: rapid response to treatment with calcitonin.

We report on a 7-week-old infant with idiopathic hypercalcemia, hypercalciuria and nephrocalcinosis. At the time of admission, serum concentrations of parathyroid hormone and 1,25(OH)2D3 were found to be inadequately high, and those of calcitonin and 24,25(OH)2D3 too low, relative to the hypercalcemia. Treatment with calcitonin normalized serum calcium concentrations within 4 days, and a 3-week course of thiazides combined with a decreased dietary calcium:phosphorus ratio corrected the hypercalciuria. A repeat profile of the calcium-regulating hormones done at the age of 5.5 months was normal. Based on the clinical course and the hormonal profiles, we hypothesize that the idiopathic infantile hypercalcemia in this patient could have resulted from a generalized maturational delay of calcium homeostasis. Treatment with calcitonin, therefore, seems to be the most appropriate way to control the hypercalcemia.

24,25-Dihydroxyvitamin D 3↗
PubMed1991

[Abdominal malignancies in childhood].

We reviewed epidemiological data and outcome of 134 children with abdominal tumors (AT) among a total of 460 children with solid tumors (ST) seen between 1971-1989. There were no significant differences in ethnic distribution or sex ratio between children with AT and ST. The mean age was younger in those with AT than with ST (4.7 vs 7.2 years). The 3 major histologic AT types were Burkitt lymphoma, Wilms' tumor and neuroblastoma, with a relative increase after 1978 in those with abdominal Burkitt lymphoma. A comparison of our therapeutic results in AT treated before and after 1981 shows significant improvement in the actuarial survival at 5 years: 71.1% of those treated after 1981 were then alive with no evidence of disease, vs only 32.8% of those treated before 1981. Since 1981 the actuarial survival at 5 years in our children with Wilms' tumor and abdominal Burkitt lymphoma is about 80%.

Abdominal Neoplasms↗
PubMed1991

[Diabetic hand syndrome in juvenile diabetes].

Patients with Type I diabetes may develop a scleroderma-like syndrome, including limitation of joint mobility. This syndrome, cherioarthropathy, is considered a complication of diabetes, but its cause is unknown. We examined 30 Jewish and 13 Arab patients in our juvenile diabetes clinic for skin and joint involvement. Signs of cherioarthropathy in both hands were found in 13 children (30.2%); all had skin changes and 6 (13.5%) also had articular involvement of the hands. There was no correlation between the presence of cherioarthropathy and the patient's age or the duration of diabetes. The syndrome was significantly more frequent among Arabs (8/15, 61.5%) than Jewish children (5/30, 16.6%), p less than 0.01. There was a indirect correlation between incidence of cherioarthropathy and adequacy of glycemic control, but no difference in glycemic control between Arab and Jewish children. This may indicate a genetic factor in the development of cherioarthropathy in juvenile diabetes.

Child↗
PubMed1991

Glutaric aciduria type I. Brain CT features and a diagnostic pitfall.

Serial CT findings in an infant with glutaric aciduria type I (GA-I) are reported. The major CT features were dilatation of the insular cisterns, regression of the temporal lobes, with "bat wings" dilatation of the Sylvian fissures and hypodensity of the lenticular nuclei. CT changes preceded the onset of symptoms by 3 months. An improvement in the temporal lobe atrophy was seen after a period of treatment, coinciding with marked clinical improvement. A peculiar feature was the presence of external hydrocephalus, which diverted the attention from manifestations of the primary disease and thus constituted a diagnostic pitfall. The delineation and recognition of the characteristic radiologic manifestations of GA-I are essential for allowing an adequate radiologist/clinician interaction in diagnosing this inborn error of metabolism.

Amino Acid Metabolism, Inborn Errors↗
PubMed1991

The scleroderma-like syndrome of insulin-dependent diabetes mellitus.

The scleroderma-like syndrome (SLS) of diabetes consists of limited joint mobility and digital sclerosis. It is described in 8-50% of insulin-dependent diabetes mellitus patients and is the earliest clinically apparent long-term complication of diabetes in children and adolescents. The frequency of this finding appears to be related to the duration of diabetes and increasing age. Less clear are the relationships between this syndrome and glycaemic control or genetic factors. SLS is an easily identifiable marker for those young patients who may be at increased risk for the development of early microvascular complications. Recognition of this characterization will permit the clinician to focus on newer and improved techniques for long-term physiological control of the diabetes, in an attempt to prevent microvascular disease.

Blood Glucose↗
PubMed1990

[Autoimmune enteropathy causing protracted diarrhea].

A 3-month old female infant was transferred from another hospital where she had been hospitalized from the age of 1 month for protracted secretory diarrhea. The diarrhea had begun at birth and was unresponsive to various therapeutic formulas and to total parenteral nutrition (TPN). The parents were consanguineous. There were 6 normal siblings, while 3 siblings had died in infancy, including a sister who had succumbed to protracted diarrhea at the age of 6 months. In our patient duodenal biopsy showed flattening of villi and proliferation of mononuclear cells in the lamina propria. Specific circulating IgG antibodies against gut epithelium were found, as well as thyroglobulin antibodies. Repeated trials of oral feeding were unsuccessful and TPN was required for 8 months. Complications included septicemia, osteomyelitis and acute renal failure. Therapeutic trials with intravenous hydrocortisone, zinc sulphate and metronidazole were unsuccessful and the infant died at the age of 11 months. Intestinal tissue taken postmortem showed nearly absolute flattening of intestinal villi. This is the first report in Israel of intractable infantile diarrhea due to autoantibodies to intestinal epithelium.

Autoantibodies↗