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Biomedical subjects

J Sack

Publications and source records attributed to J Sack.

At least 55 records · Page 3Linked to original sources
PubMed1992

Ambiguous genitalia due to partial activity of cytochromes P450c17 and P450c21.

We describe a patient with male pseudohermaphrodism who has normal basal serum concentrations of cortisol and high basal levels of progesterone and 17 hydroxyprogesterone. Serum concentrations of androstendione, dehydroepiandrosterone sulfate and testosterone were low. On adequate human chorionic gonadotropin (HCG) stimulation, no rise in serum androstendione, dehydroepiandrosterone sulfate or testosterone concentrations was observed. After ACTH stimulation there was an excessive rise in progesterone and 17 hydroxyprogesterone with no rise in androstendione, dehydroepiandrosterone sulfate, testosterone, deoxycorticosterone or cortisol. These clinical and laboratory data suggest that the patient has a combined defect in both cytochromes P450c17 and P450c21. The genes coding for these cytochromes are on different chromosomes, 10 and 6, respectively. Unlike isolated 21 hydroxylase deficiency where all identical HLA siblings suffer from the disease, HLA typing of the patient's family revealed a healthy brother with identical HLA. This suggests that the gene coding for P450c21 on chromosome 6 is not affected and that the lesion might be on a common enzyme which donates an electron to both cytochromes, most probably a flavoprotein.

17-alpha-Hydroxyprogesterone↗
PubMed1992

The effect of thyroxine and corticosteroids upon amniotic fluid fluorescence polarization: a randomized controlled study.

The efficacy of glucocorticoid and intra amniotic thyroxine therapy on fetal lung maturity were compared in a randomized prospective clinical trial. Eighty two patients received either intra amniotic thyroxine (n = 36), or intra muscular Dexamethasone (n = 46). The Fluorescence Polarization (FP) of amniotic fluid measured prior to and one week following treatment were similar in the two groups. The rate of decrease in FP value per unit of time (dFP/dt) was identical in the T4 and corticosteroid treated patients and the proportion of immature FP values obtained was similar in the two groups. The effect of thyroxine therapy was more pronounced in pregnancies above 33 weeks gestation. Intra amniotic thyroxine therapy appeared to be as effective as glucocorticoids for the enhancement of fetal lung maturity. This therapeutic modality may be of particular use on pregnant subjects in whom a relative contra indication for the administration of steroids exists.

Amniotic Fluid↗
PubMed1991

Reversible male infertility in late onset congenital adrenal hyperplasia.

We have studied a male patient who presented with secondary infertility. His eldest daughter suffers from late onset congenital adrenal hyperplasia. Based on his hormonal profile, adrenal and gonadal stimulation tests, semen analyses and testicular biopsy he was diagnosed as suffering from the same disease as his daughter. Steroid treatment yielded improvement in all the parameters mentioned above. Four months later his wife became pregnant and he fathered a child. Suppression of gonadotropin secretion due to overproduction of adrenal androgens would appear to be the reason for the failure of testicular maturation and spermatogenesis in this patient. We conclude: 1) glucocorticoid treatment is indicated in infertile males suffering from nonclassical 21-hydroxylase deficiency; 2) Late onset congenital adrenal hyperplasia should be suspected in any male infertility of unknown origin.

17-alpha-Hydroxyprogesterone↗
PubMed1991

A ten-year temporal analysis of primary congenital hypothyroidism in Israel.

It was previously shown that some congenital malformations present seasonal variations, suggesting a seasonal etiology such as viral infections. Some earlier studies have shown a certain degree of variation in the incidence rates of congenital hypothyroidism. As from April 1978 all infants born in Israel were screened for congenital hypothyroidism (CH) in one central laboratory at the Sheba Medical Center Tel-Hashomer. During the 10-year screening period (April 1978 to March 1988) 303 infants were found to have primary CH, which constitutes an overall incidence of 1/3192 live births. The annual and monthly birth incidence was calculated for the 120 months of the screening period. The annual CH incidence was significantly low in 1978 and 1979 and significantly high in 1985. There were wide and significant variations in the individual monthly incidences of CH. The average monthly incidence showed a low peak in August; however the autocorrelation analysis of the monthly incidences of CH showed no significant periodicity. This was supported by the Fourier analysis which showed no distinctive frequency peak. The last menstrual period was calculated for 138 of the infants' mothers and an autocorrelation analysis of these dates showed no significant periodicity. These results support a non-periodic etiology for sporadic primary CH in Israel.

Congenital Hypothyroidism↗
PubMed1991

Spontaneous pregnancies in two women with Laron-type dwarfism: are growth hormone and circulating insulin-like growth factor mandatory for induction of ovulation?

It has recently been claimed that growth hormone (GH) and insulin-like growth factors have a role in follicular development; different mechanisms of action have been proposed. Of late, many investigators have been led by these findings to use GH and growth hormone-releasing hormone (GHRH) for induction of ovulation, in combination with human menopausal gonadotrophins. It is, however, still doubtful whether or not growth hormones and/or insulin-like growth factors are mandatory for follicular development and fertility. In this study we describe two women with Laron-type dwarfism who lacked insulin-like growth factors and who had spontaneous pregnancies. We also discuss different natural defects in the production and metabolism of growth hormone and insulin-like growth factors in humans, and the fertility performance of the affected females. It is our assumption that GH and systemic insulin-like growth factors may modulate follicular development, but that they are not necessarily mandatory for ovarian follicular development.

Adult↗
PubMed1991

Choledochoduodenostomy. Analysis of 71 cases followed for 5 to 15 years.

To investigate the long-term effectiveness of choledochoduodenostomy (CDD), the experience with 71 patients followed for 5 or more years after CDD was analyzed retrospectively. From 1968 to 1984, 134 patients underwent CDD. Eight patients (6%) died in the immediate postoperative period, 55 left the hospital, 8 of them were lost to follow-up, and 47 were followed but died before 5 years elapsed after CDD. The remaining 71 patients form the data base for this analysis: 38 were followed for more than 5 years, 25 were followed for more than 10 years, and 8 were followed for more than 15 years (mean 12.1 years +/- 1.3 SEM). Choledocholithiasis, chronic pancreatitis, and postoperative stricture were the indications for CDD. Cholangitis was observed in only three patients. The diameter of the common bile duct (CBD) was large in most patients (mean 18 mm +/- 0.9 SEM). These results infer that CDD is effective to treat non-neoplastic obstructing lesions of the distal CBD on a long-term basis and that the presence of a dilated CBD (more than 16 mm) that allows the construction of a CDD more than 14 mm is essential to obtain good results.

Aged↗
PubMed1990

Long-term follow-up of 24 patients undergoing radical resection for ampullary carcinoma, 1953 to 1988.

Potentially curative radical pancreaticoduodenectomy for ampullary adenocarcinoma was performed in 24 patients over a 35-year period. The overall operative mortality was 12.5%. Actuarial survival rate at 5 years was 61% +/- 13.4 standard error of the mean (SEM) and subsequently remained unchanged. In the same time period, 21 patients underwent potentially curative radical pancreaticoduodenectomy for periampullary tumors of pancreatic origin. Similar analysis showed an overall operative mortality of 23.8% and a survival rate at 5 years of 27% +/- 12.5 SEM. The results of radical pancreaticoduodenectomy for ampullary carcinoma in the most recent years (1976 to 1988) were compared with those of former years (1953 to 1975). There were no statistically significant differences in the 5-year survival rate; however, the operative mortality decreased from 25% in the former period to 6.3% in the recent period. Survival was dependent on nodal status. The 5-year survival rate was 78% +/- 11.5 SEM in the absence of nodal metastasis versus 50% +/- 25 SEM in the presence of regional nodal metastasis. These findings support the concept that radical pancreaticoduodenectomy offers a realistic probability for cure in a selected group of patients with carcinomas of the ampulla of Vater.

Actuarial Analysis↗
PubMed1990

Kool-Aid colitis.

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Beverages↗
PubMed1990

Effect of verapamil on insulin-stimulated choleresis.

Insulin is one of several neurohumoral substances known to have a choleretic effect in vivo and in the isolated perfused rat liver. Infusion of insulin in the perfused rat liver preparation results in stimulation of bile acid-independent bile flow evidenced by increased bile flow, decreased bile acid concentration, and stable bile acid output. The mechanism of insulin-stimulated choleresis is unknown but may involve calcium as an intracellular second messenger. The present studies were performed to assess the role of membrane calcium channels in mediating choleresis and insulin-stimulated bile acid-independent bile flow in the in situ perfused rat liver. We have shown that verapamil, a specific calcium channel blocker, has no effect on bile flow, bile acid concentration, or bile acid output during bile acid-stimulated choleresis at a taurocholate infusion rate of 40 or 80 nmole/g liver/min. Insulin caused a significant increase in bile flow (18-30%) and a decrease in bile acid concentration (13-21%) without affecting bile acid output at a taurocholate infusion rate of 40 or 80 nmole/g liver/min. Verapamil failed to inhibit insulin-stimulated choleresis at a taurocholate infusion rate of 80 nmole/g liver/min. Although we observed an insulin-stimulated increase in bile flow and a decrease in bile acid concentration in the presence of verapamil at a taurocholate infusion rate of 40 nmole/g liver/min, these changes failed to reach statistical significance. We conclude that verapamil has no effect on choleresis or insulin-stimulated bile flow in the perfused rat liver and that the mechanism by which insulin promotes bile acid-independent bile flow is not mediated by verapamil-sensitive calcium channels.

Animals↗
PubMed1990

Blood-spotted filter paper measurements of thyroxine and thyroid-stimulating hormone in the follow-up of children with congenital hypothyroidism.

Neonatal screening for congenital hypothyroidism using T4 and TSH measurements from blood-spotted filter paper is a well-established method. However, it has not been used to monitor T4 and TSH concentrations in the follow-up of these children. In 22 treated children with congenital hypothyroidism whom we follow up in our Clinic, T4 and TSH concentrations were concomitantly measured from venous blood and blood-spotted filter paper. There was a significant positive correlation between both T4 and TSH measurements from venous blood versus blood-spotted filter paper (r = 0.7, p = 0.001; r = 0.78, p less than 0.05). Filter paper T4 values above 7 micrograms/dl could exclude hypothyroxinemia in 98% of the specimens. When TSH values were above 10 microU/ml, it was confirmed in 94% of the specimens, and when they were above 20 microU/ml, it was confirmed in 97% of the specimens. Measurements of both filter paper T4 and filter paper TSH did not increase the reliability of the results obtained by examining the two hormones separately. We therefore suggest that filter paper T4 and/or TSH measurements have distinct advantages in monitoring the treatment of children with congenital hypothyroidism. It can be performed in the community, enabling assistance in the follow-up of children in remote areas who are unable to show up for serum tests. The results are obtained quickly and allow improved follow-up by providing useful information such as excluding hypothyroxinemia or suggesting the possibility of noncompliance, and by a psychological effect on parents. However, they cannot replace serum T4 and TSH measurements altogether.

Blood Specimen Collection↗
PubMed1990

Deleterious effect of anti-insulin antibodies on diabetes control.

We studied the effect of anti-insulin antibodies (AIA) on glycemia control in patients with insulin-dependent diabetes (IDD) by following the AIA titer changes with time. Although expected to remain constant, AIA levels were found to either increase or decrease in most patients. These AIA titer changes correlated significantly with changes in glycohemoglobin but not with changes in insulin dose. The results suggest that AIA may have a deleterious effect on glycemia control in IDD.

Adolescent↗
PubMed1989

[Lead poisoning in two families from a car battery workshop].

Lead poisoning resulting from exposure to lead in a domestic car battery workshop is reported in 10 children in 2 families. 2 girls, aged 2 10/12 and 1 8/12 years, respectively, from 1 of the families were hospitalized for investigation of nausea, vomiting, progressive muscular weakness and peripheral neuropathy. Serum lead levels were 52 and 49 mcg/dl, respectively. Subsequent screening of all members of this family, as well as those of the other family who lived in the same house, revealed abnormally elevated levels of serum lead in all the members of both families. The 2 girls were treated with chelating agents and improved clinically and their serum lead levels decreased to 29 and 34 mcg/dl, respectively. The domestic workshop was closed and the 2 families moved to another neighborhood. These cases illustrate the need to screen all family members and contacts of patients with lead poisoning, as well as the hazards of the uncontrolled use of lead in domestic workshops.

Chelating Agents↗
PubMed1989

Binding of thyrotropin to selected Mycoplasma species: detection of serum antibodies against a specific Mycoplasma membrane antigen in patients with autoimmune thyroid disease.

Radiolabeled human (hTSH) and bovine (bTSH) thyroid stimulating hormone was shown to bind to five species of Mycoplasma, the wall-less prokaryotes. The maximum binding capacity of 125I-bTSH to these five species was about 7.9 x 10(-13) moles-1.4 x 10(-12) moles for 50-100 micrograms protein with dissociation constants of approximately 1.7 to 2.2 x 10(-7)M. Approximately 50% of the 125I-bTSH binding was displaced by excess, unlabeled bTSH or hTSH, but labeled bTSH was not effectively displaced by growth hormone, LH, FSH, prolactin, or the beta subunit of hTSH, FSH and LH. Antisera prepared against Mycoplasma gallisepticum and Mycoplasma pneumoniae bound to human thyroid membranes and guinea pig fat cells, suggesting that receptors on human thyroid tissues and on Mycoplasma cells may have similarities in antigenicity. These findings were substantiated by the occurrence of TSH binding to Mycoplasma antisera. Further, sera from three of six patients with Graves' disease containing antibodies to thyroid tissues also reacted to a 108 Kd polypeptide of Mycoplasma gallisepticum.

Animals↗
PubMed1989

Gastrointestinal autonomic nerve tumors. 'Plexosarcomas'.

Four plexosarcomas (gastrointestinal autonomic nerve tumors) characterized by light microscopic, immunocytochemical, and ultrastructural examination, including immunoelectron microscopy in one case, are described. The four neoplasms occurred in the small intestine (duodenum, two; jejunum, one; and ileum, one) and they had an aggressive course with either local or distant metastases. The light-microscopic patterns varied from epithelioid and organoid to spindle cells, mimicking endocrine and sarcomatous neoplasms. Ultrastructurally, these tumors exhibited interdigitating cytoplasmic processes that contained scattered aggregates of membrane-bound granules varying in size from 100 to 300 nm intermixed with empty vesicles and numerous diffusely distributed intermediate filaments. Basal lamina covering cell surfaces, attachment plaques, and myofilaments, as expected in smooth-muscle tumors, were not identified, and diffusely distributed membrane-bound granules, as seen in paragangliomas and carcinoid tumors, were also absent. By immunocytochemistry, the tumors were intensely positive for vimentin and neuron-specific enolase and focally positive for neurofilaments and synaptophysin. In addition, three tumors were S100 protein positive and one stained for vasoactive intestinal peptide. Similar positive immunocytochemical reactions were identified in normal enteric plexus. It is essential to recognize plexosarcomas, which are invariably accompanied by aggressive clinical behavior, in spite of a seemingly benign, mitotically inactive light-microscopic appearance in most instances. Ultrastructural examination can readily separate plexosarcomas from paragangliomas and other sarcomatous and endocrine neoplasms.

Autonomic Nervous System Diseases↗
PubMed1988

11 Beta-hydroxylase deficiency congenital adrenal hyperplasia: update of prenatal diagnosis.

Hormonal measurements in maternal urine and amniotic fluid (AF) during pregnancy and/or at delivery correctly predicted the postnatal diagnosis of 11 beta-hydroxylase deficiency congenital adrenal hyperplasia (11 beta-OH deficiency CAH) in 7 fetuses at risk. In the 4 affected ones, maternal urinary tetrahydro-11-deoxycortisol (THS) excretion was high during the first trimester [0.3-2.2 mg/day (1.1-7.7 mumol/day)] and rose further during the third trimester [0.5-3.5 mg/day (1.8-12.3 mumol/day)] compared to urinary THS excretion in 20 normal pregnancies of the same gestational age (P less than 0.01). In 1 mother, dexamethasone administration (2 mg/day for 72 h) greatly reduced urinary THS excretion (and plasma steroid levels). Urinary THS excretion was low after delivery in these mothers, in normal pregnancies, and in parents of affected individuals [less than 0.05 mg/day (less than 0.08 mumol/day); P = NS]. However, 2 of the 3 heterozygous mothers who carried nonaffected fetuses excreted moderately increased amounts of THS during pregnancy, ranging from 0.15-0.26 mg/day (0.53-0.91 mumol/day), significantly higher than normal (P less than 0.01). Although urinary THS excretion in these mothers was similar to that in 2 mothers with affected fetuses early in pregnancy, urinary THS excretion was higher in mothers with affected compared to those with nonaffected fetuses after the first trimester (P less than 0.01). AF THS and 11-deoxycortisol concentrations were markedly elevated in pregnancies with affected fetuses (P less than 0.01), but normal in nonaffected ones. AF delta 4-androstenedione levels were high in 2 pregnancies and borderline elevated in a third. Although the AF tetrahydrocortisol and tetrahydrocortisone levels were always within the normal range, the AF THS to tetrahydrocortisol plus tetrahydrocortisone ratio was significantly elevated in all pregnancies with affected fetuses (2.8-5.5; P less than 0.01) and normal in nonaffected ones (0.48-1.2; P = NS) compared to that in 160 normal pregnancies [0.64 +/- 0.34 (+/- SD)]. AF 17-hydroxyprogesterone, testosterone, and 11-deoxycorticosterone levels were normal in all pregnancies. Maternal plasma 11-deoxycortisol and delta 4-androstenedione concentrations, determined sequentially throughout gestation, were variable and did not contribute to prenatal diagnosis. All affected infants were born hyperpigmented, 2 were large for gestational age, and the female was severely virilized. In the first week of life 2 males developed severe hypertension with seizures and adrenal insufficiency, respectively.(ABSTRACT TRUNCATED AT 400 WORDS)

Adrenal Hyperplasia, Congenital↗