Incidence of intrauterine growth retardation and its significance in perinatology in Hungary]

The authors have examined the incidence of intrauterine growth retardation at a country level for the first time both in local and international aspect. Using the nomenclature of NDN-system they have found the frequency of WL-(proportional) retardation 7.95% and that of N-(disproportional) retardation 5.99%. They show incidence of retardation from county to county, as well. Examining the correlation between retardation and perinatal mortality they've stated that while the frequency of still-birth among the average developed and proportionally nutrified fetus is 0.34% and the frequency of perinatal mortality among them is 1.23%, that of the N-retardated newborns is 0.88% and 2.08%, respectively, and that of the WL-retarded is higher than the latter: 2.03% and 3.90% respectively. Regarding the incidence and mortality ratio among the two types of retardation the difference is significant.     

Proton magnetic resonance spectroscopy of the brain in schizophrenic and affective patients.

Water-suppressed 1H magnetic resonance spectra were recorded from two brain regions of psychiatric patients and normal volunteers. The two regions studied were (a) the basal ganglia structures surrounding the anterior horn of the lateral ventricle and (b) the occipital cortex. N-Acetylaspartate (NAA), phosphocreatine-creatine (PCr-Cr), choline and inositol resonances were seen in both regions. Ratios of metabolite peak integrals to PCr-Cr peak integral were calculated for each spectrum. To control for partial volume effects, comparisons between patients and controls were made only from identical regions i.e. basal ganglia vs basal ganglia, and likewise for occipital cortex. Metabolite ratios from the occipital region of patients were similar to those from the occipital region of normal subjects. Bipolar patients being treated with lithium had elevated NAA/PCr-Cr in the basal ganglia region when compared to normals. These patients also demonstrated elevated choline/PCr-Cr and inositol/PCr-Cr ratios in the basal ganglia region.     

Clinical impact of CCM mutation detection in familial cavernous angioma

Introduction and background A 3-year-old Bosnian girl with a large symptomatic brainstem and multiple supratentorial cavernous angiomas, who underwent neurosurgical treatment, is presented. As multiple cavernomas are more common in familial cases, genetic analyses and neuroradiological imaging were performed in the patient and her parents to see whether there was any evidence for inheritance. This information is important for genetic counseling and provision of medical care for at-risk relatives. Currently, no recommendation is available on how to manage these cases.Results Genetic analyses demonstrated a novel CCM1 frameshift mutation (c.1683_1684insA; p.V562SfsX6) in the child and the asymptomatic 27-year-old mother. Sensitive gradient-echo magnetic resonance imaging of the mother revealed multiple supratentorial lesions, whereas analogous imaging of the father showed no pathological findings.Conclusion This case exemplifies that seemingly sporadic cases with multiple lesions might well be hereditary and that presymptomatic genetic testing of family members may identify relatives for whom clinical and neuroradiological monitoring is indicated.     

Change of serum HPL level in maternal vein, umbilical cord vein and artery in mature and premature labour

The authors examined the possible role of HPL in the onset of labour. The HPL level of the maternal vein, the umbilical cord vein and artery was compared in vaginal mature (n = 16) and premature (n = 52) deliveries. The HPL concentration was also examined in mature (n = 18) and premature (n = 18) deliveries performed by caesarean section prior to the onset of labour. The results showed that: the serum HPL level in the maternal vein, the umbilical cord vein and artery was lower during the 33rd-36th and the 40th weeks in cases of vaginal delivery compared to elective caesarean section; The artery/vein ratio decreases during labour (A/V X 100 value), indicating that HPL metabolism in the fetus decreases during regular labour pains; The onset of premature labour and delivery was associated with lower HPL levels compared to normal pregnancy. The authors assume that the lower HPL level found in cases of vaginal delivery may be due to reduced placental perfusion, but they do not exclude the possible association of lower HPL concentrations in cases of premature delivery.     

Psychiatric rehabilitation in a French-speaking setting: current practices, future challenges]

This paper aims to assess current interventions in psychiatric rehabilitation in the French-speaking world and to discuss future developments. We review examples of policies and practices in Quebec and Europe and discuss the role and involvement of professionals; namely, the psychiatrists and the nursing staff. We also present different rehabilitation strategies and techniques used in the French-speaking world, such as case management, social-skills training, cognitive therapies for psychotic symptoms, family interventions, and return-to-work interventions. In conclusion, we invite psychiatrists to play a more active role in rehabilitation. We recommend the creation of small, specialized units closely linked to the needs of clients, and we propose to integrate social and medical interventions, rather than opposing them.     

Genetic ablation of the t-SNARE SNAP-25 distinguishes mechanisms of neuroexocytosis.

Axon outgrowth during development and neurotransmitter release depends on exocytotic mechanisms, although what protein machinery is common to or differentiates these processes remains unclear. Here we show that the neural t-SNARE (target-membrane-associated-soluble N-ethylmaleimide fusion protein attachment protein (SNAP) receptor) SNAP-25 is not required for nerve growth or stimulus-independent neurotransmitter release, but is essential for evoked synaptic transmission at neuromuscular junctions and central synapses. These results demonstrate that the development of neurotransmission requires the recruitment of a specialized SNARE core complex to meet the demands of regulated exocytosis.     

Analgesic nephropathy in Hungary: the HANS study.

BACKGROUND: The diagnosis of analgesic nephropathy has improved significantly with modern imaging techniques. We reviewed a large portion of the Hungarian dialysis population to obtain additional insight into the problem. METHODS: Twenty-two participating dialysis units enrolled 1400 patients on renal replacement therapy between 1 January 1995 and 1 January 1998. Patients with no known aetiology (n = 284) were interviewed and studied with renal imaging. We assessed the presence of decreased renal mass combined with either bumpy contours, papillary calcification, or both. The subjects studied were interrogated extensively. RESULTS: Our survey suggested analgesic nephropathy in 47 of 1400 patients (3.3%), 3-fold higher than the EDTA database estimate for Hungary. The analgesics most commonly abused were phenacetin-containing mixtures. The driving symptoms were mainly headache and joint pain. Cardiovascular complications were more common than in the rest of the dialysis population, independent of smoking and lipid values (P<0.01). CONCLUSIONS: Phenacetin should be banned. Our study results support the need for longitudinal cohort and case-control studies in Hungary.     

Investigating the role of heparin sulfate proteoglycans in hereditary multiple exostoses (HME) tumourigenesis

Introduction Heparin sulfate (HS) has long been implicated in the bone deformity hereditary multiple exostoses (HME), and it is now clear that HME is associated with mutations in the HS biosynthetic genes EXT1 and EXT2. Interestingly, HME is also associated with an increased risk of chondro‐ and osteo‐sarcomas. Methods and results Preliminary analysis of GAG samples purified from fibroblasts of both HME and isolated non‐HME exostoses patients reveal a dramatic shift in the ratio of CS : HS, with the HME and isolated cases having a much higher proportion of CS relative to normal controls. This is true in the case of both shed and cell surface material but is far more extreme in the latter, with the HS reducing from approximately 45% in the controls to less than 10% in HME patients. Initial analysis also reveals shortened chain length within these samples; indeed they often have two populations of chains present. Simple analysis of the total disaccharide composition of these samples demonstrates no significant differences against controls. However, detailed analysis of the subpopulations of chains (as determined by chain length) within these samples as well as cartilaginous samples from exostoses patients may provide further insight into the changes that occur within the biosynthetic pathway following disrupted EXT function. We are also carrying out immunocytochemistry with a variety of HS‐specific antibodies with the aim to further investigate normal HS structure and localization. This is being carried out on human primary chondrocytes isolated from normal patients and also adult mesenchymal stem cells as they undergo differentiation into chondrocytes. HS has been identified in both these cell types, and it is hoped that the manipulation of these cells through RNAi of different enzymes of the HS biosynthetic pathway will provide a suitable model for studying what changes may occur in cellular HS structures over the initial differentiation process in the growth plate. Discussion Together, these investigations should provide a good model to allow us to determine the role of HS in chondrocyte differentiation and maturation in both normal and diseased states.