Biomedical subjects
Publications and source records attributed to K Michálková.
Three cases of the distal intestinal obstruction syndrome (DIOS) are reported to be caused by a consumption of potato crisps without appropriate pancreatic enzyme supplements.
The first symptoms of immunooseous dysplasia were growth retardation and myopia. Nephrotic syndrome was diagnosed at the age of 8 years. Skeletal roentgenograms showed spondyloepiphyseal dysplasia. In the renal biopsy there was nodular accumulations of PAS-positive hyaline material at the base of the granular stalks. There was lymphopenia with decreased CD4 and CD8 subpopulations. The condition of the patient gradually worsened until she died unexpectedly at 10 years with clinical symptoms of encephalitis. Autopsy documented cytomegaloviral pneumonia and advanced mesangioproliferative glomerulonephritis. In the spleen there was PAS-positive hyaline material massively infiltrating the walls of the central arterioles of the splenic follicles. There was marked depletion of lymphocytes in the spleen and in lymph nodes. The differential diagnosis of immunooseous dysplasia in the framework of spondyloepiphyseal dysplasia is discussed.
To assess the possibilities and limitations of high-resolution CT (HRCT) in the evaluation of bronchiectasis in children, we conducted a prospective study of 20 children with clinical and/or chest film findings suggestive of this diagnosis. The 2-mm collimation, 4.3-s HRCT scans with 10 mm interslice spacing were obtained in areas of suspected bronchiectasis; in nonsuspect areas 25-30 mm interslice spacing was used. No preparation for examination was required. Bronchiectasis was revealed in ten patients (50%), being bilateral in four cases and unilateral in six cases. All types of bronchiectatic patterns were found. Cooperation during the examination was the only difference when compared with an investigation of adults. It was not a serious problem in children aged 7 years and older; scans in 6-year-old children were diagnostic but not ideal. Nondiagnostic scans were obtained in a 3-year-old girl. At the time of the scans only one patient had undergone surgery. Preoperative bronchography confirmed the CT findings. The authors conclude that HRCT can limit the need for bronchography in children with a CT finding of focal bronchiectasis in whom surgery is contemplated. When using longer scanning times it is not possible to obtain good results without sedation of children younger than 6 years.
"Basal cell naevus syndrome" (Gorlin's syndrome) is a sporadic autosomal dominant hereditary precancerous condition which affects several organ systems. The dominating clinical manifestations are multiple basal cell naevi which develop into malignant basocellular carcinoma. Further abnormalities include abnormalities of the vertebrae and ribs, odontogenic keratocysts, calcification of the falx cerebri, a special facial appearance with progeny and macrocephaly. Affected patients may develop also ovarian fibromas, fibrosarcomas, cardiac fibromas, medulloblastomas and meningiomas. Lymphatic and chylous mesenteric cysts are also frequent. In the submitted paper the authors present the case-history of a 14-year-old girl with multiple naevi, histologically specified as solid, superficial and tricho-epithelial basalioma. Phenotypic manifestations, multiple keratocysts, bone abnormalities and calcifications of the falx cerebri which are detected in the girl led to the diagnosis of Gorlin's syndrome. The authors discuss the problem of cytogenetic findings (structural abnormalities, markers of mutagenicity) and possible therapy.
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In order to assess the familial incidence of vesicoureteral reflux (VUR) the authors examined a group of 54 families of children treated on account of this disease. Genealogical analysis revealed the same defect in two parents (1.8%), i.e. mothers and in five siblings (7.6%). Other urological abnormalities were found in 11 (6.3%) grade I relatives of children with VUR. Screening of the kidneys was made in 156 (91%) of grade I relatives. VUR was thus revealed in three siblings, incl. one where it was detected prenatally. In 18 families further abnormalities of the kidneys and urinary pathways were detected. Most frequently it was duplication of the urinary pathways which was detected in 12 grade I relatives (7%). The authors diagnosed furthermore: in mothers once right-sided hydronephrosis, once a dystopic kidney with pyelonephritic changes, once sponge kidneys, twice kidneys altered by pyelonephritis. The finding of hitherto clinically not manifested abnormalities which were thus revealed in 21 (12.1%) grade I relatives leads to the recommendation of ultrasound screening of the kidneys in families with VUR. The presence of VUR in eight (12.3%) siblings indicates the important role of genetic factors in the development of this defect.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.