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Z Borochowitz

Publications and source records attributed to Z Borochowitz.

51 records · Page 3Linked to original sources
PubMed1985

Does 1,25-dihydroxyvitamin D participate in the regulation of hormone release from endocrine glands?

The presence of receptors for 1,25-dihydroxyvitamin D3 in the pituitary, pancreas, testis, and ovary has raised the question of a possible direct role for 1,25-dihydroxyvitamin D (1,25(OH)2D) in the regulation of hormone synthesis and secretion. To evaluate this problem, six children with the syndrome of resistance to 1,25(OH)2D with rickets and alopecia underwent dynamic tests of insulin, TSH, PRL, GH, and testosterone secretion. Oral glucose loading resulted in normal glucose curves, subnormal peak insulin responses of 12-20 microU/ml in three hypocalcemic patients, and normal peak serum insulin values of 30-40 microU/ml in two normocalcemic patients. Basal serum, TSH, PRL, T4, and T3 concentrations were normal in all patients. Peak serum TSH values after TRH were 11-17 and 16-32 microU/ml in the hypo- and normocalcemic patients, respectively. The PRL response to TRH stimulation in either hypocalcemic or normocalcemic patients was normal [mean 26.2 +/- 5.1 (SD) ng/ml]. Peak serum GH levels were greater than 8 ng/ml in all five patients studied after one or more of the various stimuli. Serum testosterone concentrations after hCG stimulation were normal in the three patients studied (4.1-8.0 ng/ml). Thus, in children with resistance to 1,25(OH)2D, we could find no significant abnormalities in hormone secretion from the pituitary, pancreas, and testis apart from those presumably due to the hypocalcemia itself.

Calcitriol↗
PubMed1984

Diagnostic approach to the etiology of mental retardation.

The clinical and laboratory investigation of the etiology of mental retardation is discussed. By clinically determining the stage of onset of the mental retardation, it is possible to dispense with a large number of special investigations. It is concluded that the laboratory is chiefly of value in confirming clinical suspicions, and that only rarely will random or routine testing yield an unexpected diagnosis. The possible exception is dermatoglyphic analysis in nondysmorphic, idiopathically retarded patients. This examination demonstrated probable antenatal causative factors in a high percentage of children with retardation of intrauterine origin. If further investigation were to confirm the findings, then this simple examination should be included in the routine evaluation of these cases.

Child, Preschool↗
PubMed1983

Changes in the Sydney line during the first year of life.

Ninety-seven healthy newborns with a Sydney line in 143 palms were re-examined between the ages of 10 and 14 months. The Sydney line was no longer present at follow-up in 58.8 per cent of these infants and in 66.4 per cent of the palms. It appears that the Sydney line, unlike the simian line and its variants, is age-dependent and is not a permanent structure of early intrauterine origin.

Dermatoglyphics↗
PubMed1981

A hemodynamic complication of verapamil therapy in a neonate.

The effectiveness and lack of undesirable side-effects has made Verapamil the drug of choice in the treatment of paroxysmal supraventricular tachycardia in infants without underlying heart disease. The case described demonstrates the occasional severe negative inotropic effect of the drug, independent of its influence on heart rate and conduction. Severe heart failure and shock ensued after a therapeutic dose of i.v. Verapamil in a newborn suffering from atrial flutter with no associated heart disease. Although the arrhythmia was promptly converted to sinus rhythm, the baby required two hours of cardiopulmonary resuscitation and inotropic support. Follow-up during the first year of life revealed a normal healthy baby. Attention to the hemodynamic status in addition to continuous ECG monitoring is mandatory during i.v. Verapamil administration also in patients without underlying heart disease.

Atrial Flutter↗
PubMedDate not supplied

Sleep apnea in fragile X syndrome.

Seven subjects (age 6 to 21 years) with fragile X [fra(X)] were investigated for obstructive sleep apnea (OSA). After a structured interview, 4 of them underwent an overnight polygraphic study. The results indicate an increased risk for OSA among subjects with fra(X) (4/7). In 2 of the subjects polygraphic study indicated a severe OSA syndrome, whereas only mild and moderate severity was evident in the other two. Apnea in all 4 was associated with significant O2 desaturation. Episodes of prolonged expiratory apnea were reported in 2 of the subjects and confirmed by the polygraphic study in one. A continuous positive airway pressure (C-PAP) trial was successful in one of the two patients. It is suggested that subjects with fra(X) are at increased risk for OSA, and physicians should orientate their evaluation with this in mind.

Adolescent↗
PubMedDate not supplied

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).

DiGeorge syndrome (DGS) is a developmental field defect, characterised by absent/hypoplastic thymus and parathyroid, and conotruncal heart defects, with haploinsufficiency loci at 22q (DGS1) and 10p (DGS2). We performed fluorescence in situ hybridisations (FISH) and polymerase chain reaction (PCR) analyses in 12 patients with 10p deletions, nine of them with features of DGS, and in a familial translocation 10p;14q associated with midline defects. The critical DGS2 region is defined by two DGS patients, and maps within a 1 cM interval including D10S547 and D10S585. The other seven DGS patients are hemizygous for both loci. The breakpoint of the reciprocal translocation 10p;14q maps at a distance of at least 12 cM distal to the critical DGS2 region. Interstitial and terminal deletions described are in the range of 10-50 cM and enable the tentative mapping of loci for ptosis and hearing loss, features which are not part of the DGS clinical spectrum.

Cell Line, Transformed↗
PubMedDate not supplied

Very low maternal serum unconjugated estriol and prenatal diagnosis of steroid sulfatase deficiency.

Twenty-four women out of 7,875 pregnant women who enrolled in a prenatal screening program showed extremely low levels of unconjugated estriol (< 0.15 MOM). In 19 cases, intrauterine fetal death was reported. In 1 case anencephalus was detected. In the remaining 4 cases apparently normal healthy babies (1 female and 3 males) were born following uneventful pregnancies. Physical examination of the 3 boys at 4-6 weeks revealed mild ichthyosis compatible with the X-linked type. Two of them had a positive family history of X-linked ichthyosis. The examination of the girl did not reveal any significant findings. In both cases in which amniocentesis was performed, low levels of steroid sulfatase and arylsulfatase C were found. The prevalence of X-linked ichthyosis in this study is higher than previously reported, i.e. 1:1,300 males. Our results suggest that the prenatal screening program for neural tube defects and for Down's syndrome is useful for the prenatal detection of X-linked ichthyosis as well. These results are in accordance with two recent reports. The implications regarding genetic counseling are discussed.

Adult↗