Leukemic transformation in patients with the 5q- alteration: analysis of the behavior of the 5q- clones in preleukemic to leukemic phases

Serial cytogenetic studies have been performed in four patients with myelodysplastic syndromes. In all four a 5q- alteration was present, but with a different pattern of presentation. One patient presented 5q- as the only alteration since diagnosis; two patients acquired this alteration during the course of the disease; and the fourth showed a 5q- plus other alterations since the first cytogenetic study. Likewise, three of the four patients showed a clone with trisomy 8 and without 5q-. According to these observations and others from the literature with similar cytogenetic behavior, we have analyzed the following points: 5q- as a primary event and as the only alteration, 5q- as a secondary event, 5q- plus other alterations, and presence of cytogenetically different clones. Analysis of these points suggests that the 5q- alteration can represent an early mutation conferring a slow capacity of expansion to the affected clones, with the possibility of cytogenetic evolution during the progression of the disease (about 30% of the patients). Likewise, the association of trisomy 8 clones with 5q- clones can be a nonrandom event.     

Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.

A patient with the diagnosis of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) and interstitial 8q deletion was also noted to have persistent cloaca and prune belly sequence. This is the first report of this association. If it postulated that these latter embryonic defects may be due to the chromosome abnormality, supporting the definition of contiguous gene syndrome.     

Unusual inheritance of Becker type muscular dystrophy.

A family with Becker type muscular dystrophy is described, in which two females were severely affected, giving the family tree the appearance of dominant inheritance.     

Membranous laryngotracheobronchitis,a complication of measles

Membranous laryngotracheobronchitis is a very serious infection which affects the larynx, trachea and bronchi, requiring aggressive therapeutic measures. It has been recently rediscovered as a cause of disease in children. However, it is a very unusual complication of measles. Two infants with measles and membranous laryngotracheobronchitis are reported.     

Psychopathology Symptoms are Associated with Prenatal Health Practices in Pregnant Women with Heavy Smoking Levels

Purpose

Smoking during pregnancy may be linked to other problematic prenatal health behaviors in women. We examined interrelationships among prenatal smoking, prenatal health behaviors and mental health. The objective of this study was to examine factors that may contribute to variations in prenatal health practices among women who smoke during pregnancy.

Methods

Birth mothers from an adoption study (N?=?912) were interviewed about prenatal smoking, health behaviors, and mental health symptoms at 5 months postpartum.

Results

One-quarter of participants (N?=?222) reported smoking 6 or more cigarettes daily for at least 1 trimester. For mothers who smoked more than 6 cigarettes daily, higher levels of antisocial behaviors (β?=????.14, p?=?.03) and depressive symptoms (β?=????.17, p?=?.03) were associated with less frequent prenatal folate use; antisocial behaviors and depressive symptoms were not associated for prenatal folate use among women who did not smoke more than 6 cigarettes daily. For mothers who did not smoke more than 6 cigarettes daily, more depressive symptoms were associated with fewer prenatal care visits (β?=?.12, p?=?.01). Antisocial behaviors and anxiety symptoms were not associated with prenatal care visits in either group of mothers.

Conclusions for Practice

Maternal antisocial behaviors and depressive symptoms during pregnancy may be markers for poorer adherence to recommendations for folate supplementation among women who smoke 6 or more cigarettes daily during pregnancy, independent of adequacy of prenatal care.

     

Modulatory effects of phosphatidylserine on the binding of muscarinic cholinergic receptor ligands

The modulation of the binding of muscarinic cholinergic receptor ligands by phosphatidylserine purified from bovine cerebral cortex (BC-PS) was examined in vitro and in vivo. The enrichment of bovine cerebral cortical synaptosomal membranes with BC-PS, using a fusion technique, produced a concentration-dependent decrease in the affinity (increase in K _d ) of [³H]quinuclidinyl benzylate (³H-QNB) specific binding to muscarinic acetylcholine receptors (mAChR), without changes in their maximal number (Bmax). Similar results were observed when [³H]oxotremorine (³H-OXO) was used to label a high affinity subpopulation of mAChR. On the other hand, preincubation of BC-PS liposomes with synaptosomal membranes in a nonoptimum fusion condition (at pH 7.4) did not alter the binding properties of both radioligands. Fusion experiments using a pure phosphatidylserine preparation from spinal cord revealed a similar decrement in the affinity of³H-QNB specific binding. Five day’s intraperitoneal (i.p.) administration of 15 mg/kg of BC-PS liposomes in rats increased the maximal number of cerebral cortical binding sites for³H-OXO. Scatchard analysis revealed no changes in the apparent dissociation constant. This modification is selective in relation to the neural structure studied. Thus, BC-PS treatment did not modify³H-OXO binding in the hippocampal formation and cerebellum. In contrast, parallel experiments using the muscarinic antagonist³H-QNB showed no alteration in the binding properties of mAChR. Five day’s i.p. administration of 15 mg/kg/d of phosphatidylcholine from bovine cerebral cortex (BC-PC) liposomes produced quite similar results to those obtained with BC-PS. These results indicate that mAChR are under the modulatory action of phosphatidylserine (PS) and phosphatidylcholine (PC), and suggest that this endogenous phospholipids may play a regulatory role on the mAChR. The possible implications of these findings on the effects of PC or PS treatment in neurological disorders involving a decrease in central cholinergic functions are discussed.     

Epidemiology of neurosensorial deafness in the Foral Community of Navarra

Congenital deafness is a relatively frequent disorder that shows a heterogeneous aetiology. Knowledge and the control of some risk factors have decreased the incidence of acquired deafness and increased the relative importance of genetic cause. In an attempt to investigate the clinical relevance of congenital deafness and the mechanisms of prevention in our population, a clinical and genetic study of cases with neurosensorial deafness born in Navarra between 1975 and 1990 was carried out. A total of eighty-one cases were identified, giving an incidence of 0.8 per thousand. Thirty per cent of the cases showed deafness associated with defects. Cause of deafness was identified in seventy per cent of the cases with whom a detailed clinical and genetic study could be performed (n=50). Genetic factors were responsible for the disorder in more than half of these cases. The most frequent hereditary factor was of the autosomic recessive type. This was associated with a more severe form of hearing loss.     

Abdominal tuberculosis. A report of 3 cases

Three patients admitted to the surgical wards of Johannesburg Hospital in whom abdominal tuberculosis was suspected are presented. In every case difficulties were encountered in diagnosis and treatment. Each case presentation is followed by a short commentary on relevant aspects of abdominal tuberculosis.