[Resistant hypertension developed in a 60-year-old male patient with chronic renal insufficiency due to untreated high blood pressure for decades despite of the coadministration of furosemide, β-blocker, calcium channel blocker, angiotensin converting enzyme inhibitor and angiotensin receptor blocker. Breakthrough could be achieved by the combination of a tiazide compound and a loop diuretic (furosemide). It seemed to be worthwile publishing the case because the tiazide drug could be successfully administered below 30 ml/min GFR, where it is generally thought to be ineffective, and because both elements of the combination was given in very low doses relative to the kidney disease. The literature of the most important combinations of the tiazide preparations and the loop diuretics are reviewed and some historical aspects are given as well.]

[Parkinson’s disease is a promising target of applying personalized medicine. For this purpose it is crucial to reveal the genetic and environmental factors, which contribute to the disease, also to collect epidemiologic data and to preserve the patients samples and data in a proper biobank. In our investigation we examined the prevalence of the most frequent Parkinson’s disease causing LRRK2 G2019S mutation in a Hungarian Parkinson-patient group. From 120 patients, we haven’t detected this substitution in anyone. Our investigation suggest that the mutation LRRK2 G2019S may be a rare cause of Parkinson disease in the Hungarian population.]

[In this article we review epilepsies with monogenic inheritance. Most of these diseases are caused by abnormal function of ligand- and voltage gated ion channels caused by a genetic defect, therefore belonging to the channelopathies. From the inherited epilepsies the genetics of the autosomal dominant partial epilepsies is clarified the best. Mutations of the nicotinic acetylcholine receptor subunits are found in familial nocturnal frontal lobe epilepsy, while defects in the voltage gated potassium channels (KCNQ2 and KCNQ3) have been identified in benign familial neonatal convulsions. Familial temporolateral epilepsy was associated with mutations of a tumor suppressor gene. From the generalized epilepsies, the syndrome of generalized epilepsy with febrile seizures plus (GEFS+) can be caused by mutations of the sodium channel subunits and of the GABAA receptor subunits. These important results would probably lead to new findings in the genetics of the more common forms of idiopathic generalized epilepsies, which have presumed polygenic origin. Although without definite conclusions, sodium channel and GABA receptor dysfunction is presumed. The accumulated knowledge about channelopathies enables insight to the cellular mechanism of epileptogenesis as well.]

[In chronic renal failure severe cardiovascular complications develop, which are the cause of death in 50% of the patients. According to recent results, behind the accelerated atherosclerosis, malnutrition and inflammation, developing in patients with chronic renal failure, play significant role. Malnutrition and inflammation show close relationship to the serum albumin level, which is an independent predictor of mortality. Authors studied the nutritional parameters of 94 chronically hemodialysis patients. Patients had been dialysed for more than three months, for 3×4-4.5 hours weekly. Among them 36% had diabetes. According to BMI (body mass index) 42.5% of the patients was normally nourished (20-24 kg/m2), 11.7% of them had malnutrition, 28.7% was overweight, and 17.1% was mildly or moderately obese. Subjective Global Assessment (SGA), calculated by dietician, revealed, that 47.9% of the patients has normal nutritional condition, all the others had some degree of malnutrition. Serum albumin level showed close correlation with the nutritional status, also with an inflammatory marker, the CRP. Only 63.8% of the patients had higher than 40g/l serum albumin. Those, who had higher than 10 mg/l CRP value, had significantly lower serum albumin (38.7±3.4 g/l), comparing to the albumin of the patients, whose CRP was below 10 mg/l (40.5±3.9 g/l, p=0.04). Comparing anthropometrical data, there was no significant difference between diabetic and non-diabetic patients. Grouping patients by their ages, the malnutrition, defined by SGA scores and by serum albumin level, was significantly worse in patients older than 80 years, than in the younger than 50 years old subjects, which signals increased risk of mortality of the elderly patients. A case presentation demonstrates, that malnutrition can be diagnosed at early stage by appropriate nutritional assessment, and it can be corrected by timely and satisfactory energy- and nutrient-substitution, in severe cases by specially prepared nutritional supplements, and thereby the patient’s severe cardiovascular risk can be ameliorated. The successful treatment of hemodialysis patients requires change in medical practice, and close cooperation between physicians and dieticians.]

[A 15 years old male was operated because of incidentally found intercostal schwannoma. Two years later severe cerebellar ataxy and left sided anacusis developed. MRI revealed bilateral vestibularis tumors and multiple cervical intradural extramedullar myelon compressing lesions. After partial resection of the huge left sided cerebello-pontin tumor, histologically schwannoma, and the exstirpation of the multiple cervical meningiomas the patient died three months later due to septic complications. The 24 years old mother had been operated on similar lesions 12 years earlier, after two weeks postoperative period she died. Her 14 years old twins are living, a boy also with bilateral acustic tumours and a girl who is intact. Genetic investigation revealed C>T nonsense mutation at position 193 in the exon 2 of the NF2 gene. This mutation cause premature truncation of the gene protein and is probably in connection with the clinically severe phenotype. Early diagnosis of this type of neurofibromatosis is mandatory concerning the therapy.]