Biomedical subjects

O Masek

Publications and source records attributed to O Masek.

At least 19 recordsLinked to original sources

PubMed1999

[Hemophilic arthropathy as a multidisciplinary problem].

The authors have at present on their records in Slovakia 422 patients with haemophilia type A, i.e. 7.9 per 100,000 population, 76 cases of haemophilia type B, i.e. an incidence of 1.4, 189 patients with von Willebrand's disease with an incidence of 3.6 and 215 patients with hypoconvertinaemia with an incidence of 3.98 per 100,000 population. The authors present an account on the most frequent complications of haemophilia with special attention to haemorrhage into the joints and the development of serious haemophilic arthropathies. They emphasize the great contribution of team work of different medical specialists who participate in the diagnosis and treatment of these diseases.

Hemarthrosis↗

PubMed1998

Prevalence, morphology and biology of renal cell carcinoma in von Hippel-Lindau disease compared to sporadic renal cell carcinoma.

PURPOSE: Renal cell carcinoma occurs as a sporadic tumor but may be part of the autosomal dominant von Hippel-Lindau disease, characterized by retinal and central nervous system hemangioblastoma, pheochromocytoma, pancreatic cysts and renal cell carcinoma. We determine the prevalence of von Hippel-Lindau disease in a series of unselected renal cell carcinoma cases by molecular genetic analysis, and compare sporadic to von Hippel-Lindau renal cell carcinoma with respect to morphology and biology. MATERIALS AND METHODS: We established registers comprising 63 subjects with von Hippel-Lindau renal cell carcinoma, belonging to 30 distinct families (register A), and 460 unselected patients operated on for renal cell carcinoma in an 11-year period (register B). Molecular genetic analysis of the von Hippel-Lindau gene was performed for living patients of register A, representing 80% of von Hippel-Lindau families, and register B, 62% living patients, to identify von Hippel-Lindau germline mutations. In addition, register B was evaluated by a questionnaire (95% response) for familial occurrence of von Hippel-Lindau disease. RESULTS: The prevalence of von Hippel-Lindau renal cell carcinoma was 1.6% in 189 consenting unselected renal cell carcinoma patients. Risk factors for occult germline von Hippel-Lindau gene mutations in register B included familial renal cell carcinoma in 3 of 3 patients (100%), multifocal or bilateral renal cell carcinoma in 1 of 10 (10%) and age younger than 50 years at diagnosis in 1 of 33 (3%). Compared to sporadic von Hippel-Lindau renal cell carcinoma was characterized by an occurrence 25 years earlier, association with renal cysts, multifocal and bilateral tumors, cystic organization and low grade histology, and a better 10-year survival (p < 0.001 each). In von Hippel-Lindau disease metastases occurred only in tumors larger than 7 cm. CONCLUSIONS: von Hippel-Lindau differs from sporadic renal cell carcinoma in morphology and biology. Our data provide arguments for planning surgery for von Hippel-Lindau renal cell carcinoma and should stimulate future investigations.

Adult↗

PubMed1996

Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.

von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome predisposing to retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma and pancreatic tumors. Clinically two types of the disease can be distinguished: VHL type 1 (without pheochromocytoma) and VHL type 2 (with pheochromocytoma). We report VHL germline mutations and trends in phenotypic variation in families from central Europe. We identified 28 mutations in 53/65 (81.5%) families with 18 (64%) mutations being unique to this population. Whereas types and distribution of mutations as well as a strong correlation of missense mutations with the VHL 2 phenotype were similar to those identified in other populations, these families have provided new insights into the molecular basis for variability in the VHL 2 phenotype. Seven different missense mutations in exons 1 and 3 varied in their biological consequences from a minimal VHL 2 phenotype with pheochromocytoma only to a full VHL 2 phenotype with RCC and pancreatic lesion. These findings contribute to a better understanding of the fundamental mechanisms of VHL disease and its phenotypic variability. Further, we have provided rapid VHL screening for the families in central Europe, which has resulted in improved diagnosis and clinical management.

Base Sequence↗

PubMed1993

[von Hippel-Lindau disease].

The available diagnostic and therapeutic possibilities allow to treat successfully all manifestations of von Hippel-Lindau disease. Adenocarcinomas of the kidneys, however, still present a serious therapeutic problem due to their mostly bilateral and multifocal occurrence. Evidence that patients after bilateral nephrectomy with subsequent dialysis or transplantation would have a longer survival time than patients whose kidneys had not been removed has not been provided as yet. Partial resection or enucleation of tumors may postpone the development of metastases but does not prevent tumor formation in the remaining parts of the kidneys. Considering the late appearance of metastases, though evidence only in one of our patients, we preferred not to remove the kidney and to introduce dialysis. The availability of sonography has put the kidney into the focus od attention in this disease. Not only does sonography allow to monitor regularly members of the affected families but also to screen for the disease at routine sonographic examination of the abdomen. (Fig. 7, Ref. 15.)

Female↗

PubMed1990

[Morphologic changes in chronic active superficial Campylobacter pylori-positive antrum gastritis after treatment with bismuth].

The authors investigated the effect of one month bismuth treatment (Bismuthi citrici 120 mg per capsule), 4 x 120 mg/day, on morphological changes of the gastric mucosa along with the effect on Campylobacter pylori (CP) in a group of 23 probands with histologically verified active superficial CP positive antrum gastritis. The probands suffered only from functional dyspepsia, to eliminate the action of other disease of the digestive tract on chronic gastritis. Complete eradication of CP occurred in 65.2% and disappearance of granulocytic infiltration as a manifestation of activity in 73.9%. The disappearance of activity correlated with the eradication of CP in 88.2. The authors evaluated also the degree of circular nuclear cellulization (grade 1-3). After one-month treatment it was reduced by 1 grade in 56.5% in the antrum, while in the corpus it remained unaltered in the majority. Complete histological normalization of the mucosa was not recorded.

Adult↗

PubMed1990

[Crohn's disease of the stomach].

The authors describe the incidence of Crohn's disease at an uncommon site the stomach--in a 40-year-old man. With regard to the steadily increasing incidence of the disease, it is important to consider its presence also in uncommon sites in the gastrointestinal tract. The establishment of the diagnosis must be comprehensive, as even histological examination of endobioptic specimens or resected portions need not be unequivocal from the diagnostic aspect.

Adult↗

PubMed1990