Genetics of Lesch's typology of alcoholism

It is widely accepted that dopamine and serotonin (5-HT) neurotransmission can be critically involved in the development of alcohol abuse and alcohol dependence. Lesch's typology of alcoholism has been gaining increasing popularity as it qualitatively differentiates patients into different treatment response subgroups. The aim of the present study was to evaluate a possible genetic background of Lesch's typology with special emphasis placed on dopamine- and serotonin-related genes. 122 alcoholics (the mean age: 35+/-9 years) were investigated. According to Lesch's typology, 58 patients were of type I, 36 patients of type II, 11 patients of type III, and 17 patients of type IV. Alcohol drinking and family history was assessed by means of a structured interview, based on the Semi-Structured Assessment for the Genetics of Alcoholism. 150 control subjects without psychiatric disorders were also recruited. The control group was ethnically-, age- and gender-matched to the patients. The DRD2 TaqIA, exon 8, and promoter -141C ins/del polymorphisms as well as COMT Val158Met, 5HTT 44 bp del in promoter, and DAT 40 bp VNTR polymorphisms were detected by means of PCR. No significant differences were observed when the whole group of alcoholics and the controls were compared. Similarly, there were no differences between either the Lesch type I or type II alcoholics and the control subjects. No significant differences were observed between type I and type II alcoholics. Alleles frequencies were not calculated for the Lesch type III and type IV alcoholics since the number of patients was too small. The present results argue against any major role of the investigated polymorphisms in either Lesch type I or type II alcoholism. More comprehensive studies are needed to define the role of the investigated polymorphisms in Lesch type III and type IV alcoholism.     

Joubert syndrome and related disorders

The cerebellum plays a role not only in motor control but also in motor learning and cognition. Joubert syndrome is a rare heterogeneous inherited genetic disorder characterized by ataxia, hypotonia, developmental delay, and at least one of the following features: neonatal respiratory disturbances or abnormal eye movement. The estimated frequency of Joubert syndrome in the United States is around 1 : 100 000. The term Joubert syndrome and related disorders (JSRD) has been recently coined to describe all disorders presenting with molar tooth sign on brain neuroimaging. Joubert syndrome is believed to be a representative of a new group of disorders named ciliopathies. The identification of seven causal genes (NPHP1, AHI1, CEP290, RPGRIP1L, TMEM67/MKS3, ARL13B, CC2D2A) has led to substantial progress in the understanding of the genetic basis of Joubert syndrome. The authors focus on clinical presentation of JSRD, differential diagnosis and molecular background.     

Acute myocardial infarction during pregnancy complicated with pulmonary oedema

Acute myocardial infarction, a rare peripartum event, is accompanied by significant maternal and fetal mortality. We report a 41-year-old woman who developed an acute myocardial infarction during the third trimester of pregnancy. The case of infarction was complicated with pulmonary oedema on the 3 day after delivery. Coronary angiography was performed 7 weeks post partum and no coronary lesions were detected. Therapeutic options in such condition are discussed and review of relevant literature is presented.     

Binding of cadmium on metallothionein in man: an analysis of a fatal poisoning by cadmium iodide

This study presents data on the organ distribution of cadmium, and Cd-protein complexes in the body of a man fatally poisoned with CdJ₂, after an oral dose of about 5 g.The levels of cadmium in different tissues were (in g per g fr. wt.): liver and kidney cortex about 80, kidney medulla, heart and testes 8.9–10.0, bile 1.9, brain 0.5 and blood 1.1.Almost all cadmium detected in the organism was bound to a low molecular weight protein, tentatively identified as metallothionein.Total amount of 18 mg cadmium was excreted in urine within 6 days of hospitalization, most likely due to Ca-EDTA treatment.The data are suggestive that cadmium induced biosynthesis of metallothionein in the subject.This paper was presented at the 2nd Symposium of Toxicology and Seminar of Pharmacology, Dvoák, September 18–19, 1970.     

Psychopharmacotherapy of anxiety, obsessive-compulsive and sleep disorders during pregnancy and lactation

The aim of the third part of our work, associated with psychopharmacotherapy during pregnancy and lactation is to present guidelines of expert--groups concerning the current rules of treating anxiety, obsessive--compulsive and sleep disorders and actual data about spreading of these disorders, pre- and perinatal effects of drugs used and the classification of them according to FDA and the safety of these medications for the breast fed newborn.     

Psychopharmacotherapy of psychotic disorder during pregnancy and lactation

The aim of our work based on the global literature-review is to present the guidelines of the psychopharmacotherapy during pregnancy and lactation recommended by various experts-groups as followed: 1. American Academy of Pediatrics, American Psychiatric Association, American College of Obstetricians and Gynecologists, The Maudsley Guidelines, Department of Psychiatry, Medical University of Mainz, Institute of Psychiatry and Neurology in Warsaw. In the first part the guidelines concerning to psychopharmacotherapy of psychotic disorders have been presented and actual data about spreading of these illnesses, pre- and perinatal effects of drugs used, the classification of neuroleptic drugs according to FDA and the safety of these medicines for the breast fed newborn.