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Biomedical subjects

J Macák

Publications and source records attributed to J Macák.

At least 19 recordsLinked to original sources

[Present possibilities of prenatal diagnosis of Fabry's disease].

Fabry's disease (angiokeratoma corporis diffusum universale) is an inborn error of metabolism, which is based on a shortage in the cumulation of glycosphingolipids in endothelial and epithelial cells of glomeruli, vascular endothelia and in ganglion cells with subsequent severe organ damage. Heredity is X-linked recessive. In the submitted paper the authors present a case-history of a family where three men were affected and carriership was confirmed in five women. During the first pregnancy one of them a successful prenatal diagnosis was made from cultivated amniotic fluid cells. Chromosomal examination revealed female sex and the levels of the alpha-galactosidase A were established in cultivated cells. A healthy girl was delivered.

Adult

[Interfollicular Hodgkin's disease].

Two cases of so-called interfollicular Hodgkin's disease, one case lacking of all histological criteria and one case of lymphadenitis mimicking Hodgkin's disease, were identified among 76 patients with Hodgkin's disease. Case 1 and 2 rank among lymphocyte predominance type, case 3 showed mixed cellularity. They shared a progressive transformation of germinal centres which was proved by immunohistology. Leu M 1 antibody-positive cells were found in both cases of the so-called interfollicular Hodgkin's disease and not in lymphadenitis mimicking Hodgkin's disease.

Adult

Application of anticytokeratin antibodies to colon carcinomas.

Mouse monoclonal anticytokeratin antibodies (BA 16; BA 17; CO 8.2; C18.2; C 10; LE 41) were used for examination of 5 patients with large bowel carcinoma ("left colon") using the indirect immunoperoxidase technique. For each case cryostat sections were examined from three localizations: primary tumour of large bowel, mucosa in the vicinity of the tumour, and mucosa of distant part from the primary tumour. The antibodies BA 16 and BA 17 produced strongly positive results. Antibody C 18.2 seems to be less suitable for detection of cytokeratin expression in this part of large bowel. The obtained results indicate that no significant differences were found in expression of cytokeratins in the three localizations by histologically well or moderately differentiated adenocarcinoma.

Adult

Malignant lymphoma involving the heart.

In a group of 116 patients with different types of malignant lymphoma, the frequency, type and clinical manifestations of heart involvement are evaluated. A case of primary cardiac lymphoma is demonstrated. Along with this, clinical and pathological findings in 15 further subjects with secondary lymphomatous infiltration of the heart are discussed; attention is being paid also to indirect factors causing cardiovascular damage, including radio- and chemotherapy.

Female

Bone marrow necrosis intravitally recognized in four cases of blastic leukaemia.

Bone marrow necrosis (BMN) is a rare intravitally recognized finding in acute leukaemia with an uncertain clinical significance. The clinical events in 4 patients with AML, ALL, AMoL and blastic transformation of CGL in whom bone marrow cytology and histology revealed BMN are reviewed. One patient with BMN at clinical presentation of AML entered complete, long lasting remission with marrow restoration after the standard DAT therapy. In the three remaining patients survival after BMN diagnosis was 6, 11, and 14 weeks. Clinical, haematological, histological and marrow scanning findings and their significance for early diagnosis and means to asses the extent and evaluation of BMN will be discussed. In contrast to the most earlier reports, BMN does not appear to confer a poor prognosis in all patients with blastic leukaemia.

Acute Disease

Balloon cell melanoma of the skin. part I: Histology, immunohistology and histochemistry.

Balloon cell melanoma of the skin was found in the left axillary region of a 60-year-old man. The tumour was very large, grew local, not forming metastases. The histological picture corresponded to a solid alveolar pattern, in some places with pseudoglandular structures. The cytoplasm of the balloon cells proved to contain lipid vacuoles and glycogen. The Masson-Fontana reaction was negative: the Warthin-Starry method gave positive results in sporadic tumour cells. The DOPA oxidase reaction was negative. Histochemistry demonstrated remarkable presence of histiocytic elements among the neoplastic cells. Reaction for the proof of alpha mannosidase was positive both in the tumour cells and in the histiocytic elements. Reaction with the NKI-C3 antibody was found to be positive in many tumour cells, the anti S-100 protein antibody less positive. Most of the cells reacted strongly positively with anticytokeratin antibody CAM 5.2. Findings of anticytokeratin antibody positive melanomas have not been published yet. Electron microscopy showed rare melanosomes in some of the neoplastic cells, making it possible to include the tumour in melanomas.

Histocytochemistry

Balloon cell melanoma of the skin. Part II: An electron-microscopic study.

Electron microscopy of an oligomelanotic balloon cell melanoma confirmed the considerable presence of lipid vacuoles in the cytoplasm of the tumours cells. There was also a marked finding of glycogen. The tumour consisted of little cohesive cells only with sporadic specialized intercellular junctions of the desmosome or hemidesmosome type. No tonofibrils could be seen. The cell cytoplasm contained a large amount of cell organelles, while stage II melanosomes were observed only exceptionally. Some of the melanosomes of stage III were difficult to distinguish from the regressively altered cell organelles, particularly from mitochondria and lysosomeś. The prevailing findings of stage II melanosomes rather indicated organelles sui generis than phagocyted organelles. There were infrequent neurosecretory granules in some places of the cytoplasm. Quite numerous Langerhans' cells with Bierbeck's granules were demonstrated among the tumour cells.

Humans

[Malignant fibrous histiocytoma of the left atrium of the heart].

Malignant fibrous histiocytoma was found in the left heart atrium as well as in probable secondaries in stomach, intestine, calvaria and diaphysis of femur. Tumour cells possessed electron microscopical features and markers of fibroblasts and histiocytes (immunopositivity with lysozyme,i A1 AT and A1 ACT).

Aged

[Angioimmunoblastic lymphadenopathy--present problems].

Angioimmunoblastic lymphadenopathy is usually characterized as a lymphoproliferative disease caused by an abnormal reaction to various chemical and biological antigens and the possible development into malignant lymphomas of different types. The authors evaluate clinical and laboratory findings in a group of their patients suffering from the above disease. They emphasize the variable symptomatology, the frequently atypical course and the ensuing diagnostic difficulties.

Adult

Bone marrow necrosis in malignant diseases. A report on seven intravitally recognized cases.

Bone marrow necrosis (BMN) is a necrosis of the hemopoietic tissue including the fibrovascular medullary stroma. Most frequently, it is caused by failure of bone marrow microcirculation. It is a complication in a wide spectrum of diseases, most frequently of malignancies, and is only rarely diagnosed ante mortem. In 6 of our 7 intravitally diagnosed cases, BMN was recognized already at the cytological examination of the bone marrow and was verified by the histological examination of the biopsy specimens as well as at necropsy. All our patients suffered from various malignant diseases. Three had generalized gastric carcinoma, the remaining hematological neoplasias: Acute lymphoblastic leukemia, acute monocytic leukemia, blastic transformation of chronic granulomegakaryocytic myelosis and primary medullary centrocytic lymphoma. The survival varied from 4 to 14 weeks after the BMN diagnosis. Clinical, hematological and autopsy findings as well as the etiopathogenetic views and prognostic implications of the diagnosis are discussed.

Adult

Clinicopathological aspects of Richter's syndrome.

Richter's syndrome represents an acute transformation of chronic lymphocytic leukaemia or other type of low-grade malignant non-Hodgkin lymphoma to highly malignant anaplastic large-cell lymphoma. The prognosis of this complication is highly unfavourable. The authors report on eight cases of Richter's syndrome observed in a series of 198 patients with the clinical diagnosis of chronic lymphocytic leukaemia and evaluate some clinicopathological and immunological peculiarities of this disease.

Aged