Diagnosis of Ewing sarcoma of the thoracic spine--differential diagnostic difficulties

Spinal Ewing's sarcomas are rare and cause problems in differential diagnosis. The radiologic, nuclear medicine and CT findings in two children with histologically proven Ewing's sarcoma are presented and problems in differential diagnosis discussed. Biopsy should be done early.     

Histology of port wine stains after copper vapour laser treatment

We report histological changes in four patients with port wine stains treated with 578 nm yellow light from a high power copper vapour laser. Histology showed that selective damage occurred to the ectatic blood-vessels in the dermis, without haemorrhage and damage to non-vascular structures, and without scarring. The initial damage to the overlying epidermis was not permanent, and the damaged ectatic vessels returned to normal size or were completely necrosed and replaced by collagen.     

Chromosomal Rearrangements in Three Infertile Men

Summary:  Three chromosomal rearrangements: a balanced reciprocal translocation, t(14;10) (q22;q13), a Y-autosome translocation, t(Y;16) (q11;p13) and a deleted Y chromosome, Yq- were detected among 100 infertile men. The autosomal translocation, associated with oligozoospermia was found to be familial with various effects on the female carriers and the proband's father. The patients with the chromosome Y abberations were found to be azoospermic and might have lost the genes necessary for normal sperma-togenesis.
Zusammenfassung:  Unter 100 infertilen Männern wurden drei Chromosomenneuan-ordnungen entdeckt: eine balancierte reziproke Translokation, t(14;10) (q22;q13), eine Y-autosome Translokation, t(Y;16) (q11;p13) und eine Deletion des Y-Chromosoms, Yq-. Die autosomale Translokation bei Oligozoospermie zeigte sich familiär mit verschiedenen Auswirkungen bei den weiblichen Überträgern und dem Vater des Probanden. Die Patien-ten mit chromosomalen Y-Aberrational wiesen eine Azoospermie auf und scheinen die zur normalen Spermatogenese notwendigen Gene verloren zu haben.     

Unlike hypoxia, hypoglycemia does not preferentially destroy GABAergic neurons in developing rat neocortex explants in culture

We tested whether hypoglycemia, like hypoxia, would preferentially destroy GABAergic nerve cells in the neocortex. To this end, rat neocortex explants dissected from 6-day-old rat pups and cultured up to a developmental stage approximately comparable to that of the newborn human neocortex, were exposed to hypoglycemia for different periods. Quantitative light microscopic and immunocytochemical evaluation of the cultures demonstrated that hypoglycemia does not preferentially destroy GABAergic but rather non-GABAergic neurons, a finding quite opposite to what was found after hypoxia. Recent biochemical data from other laboratories which seem to support this difference in neuronal vulnerability are discussed. It is concluded that perinatal hypoglycemia may not form such a serious threat with respect to the genesis of epilepsy as does hypoxia.     

Clinical status and emotional adjustment of children of depressed mothers

The authors compared children (ages 7-13 years) of unipolar depressed mothers with children of nondepressed psychiatric patients, of nondepressed medical patients, and of nondepressed mothers in the community. The children's adjustment was rated by clinicians on the Child Adjustment Schedule and by the mothers on the Child Behavior Checklist. The highest proportion of clinically significant problems was found in the children of the depressed mothers. However, the overlap between the problems of these children and those of the children of the nondepressed psychiatric patients calls into question the formulation that children's adjustment difficulties are specific to parental depression.     

Controlled study of haloperidol, pimozide and placebo for the treatment of Gilles de la Tourette's syndrome

The results of this controlled study of the treatment of 57 patients with Gilles de la Tourette's syndrome suggested that both haloperidol and pimozide were more effective than placebo, but that haloperidol was slightly more effective than pimozide. Adverse effects occurred more frequently with haloperidol vs placebo than with pimozide vs placebo, but the frequency was not significantly different for haloperidol compared with pimozide. Clinically significant cardiac effects did not occur at a maximum dosage of 0.3 mg/kg or 20 mg/d for pimozide and 10 mg/d for haloperidol. However, the QTc interval was prolonged during pimozide treatment compared with that during haloperidol treatment, although the values for both medications were not in an abnormal range.     

Chronic myopathy with a partial deficiency of the carnitine palmityltransferase enzyme

To date, chronic myopathy has not been reported (to our knowledge) to occur in carnitine palmityltransferase (CPT) deficiency, a disorder of muscle lipid metabolism. We describe two patients with CPT deficiency: a mother, who had a partial CPT deficiency associated with fixed proximal weakness but without rhabdomyolysis, and her son, who had a complete CPT deficiency (95% reduction in enzyme activity) and who suffered from classic attacks of exercise-induced rhabdomyolysis but had normal strength on recovery. Careful examination of family members of patients with complete CPT deficiency is suggested in order to identify clinically affected heterozygotes.