Omenn phenotype with short-limbed dwarfism.
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Biomedical subjects
Publications and source records attributed to T Stallmach.
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Special situations in life require very strong "protective medicine" which then has to contain human flesh. Such ingredients are obtained by so called medicine murder. Post-mortem examination on the victim, which in this case a difficult task, has to be performed by the medical officer in the District Hospitals of Lesotho. The exclusion of medicine murder has a calming effect on the community. Analysing the rationale of such medicine brings parallels to paramedical practice in our country.
INTRODUCTION: 1-2% of all twin pregnancies are complicated by premature contractions, leading to premature rupture of membranes before 26 weeks of pregnancy. In this situation, a decision is required to either actively induce premature delivery or to initiate expectant management. Maternal and fetal risks regarding perinatal mortality and morbidity and the benefits of pregnancy prolongation have to be weighted against each other. CASE REPORT: We present delayed deliveries of two I-Parae with dichorionic twin pregnancies, achieved by in vitro fertilisation. In both cases, spontaneous membrane rupture and miscarriage of the leading fetus occurred prior to 20 gestational weeks. As signs of infection were missing initially, we adopted a conservative, expectant management. In both cases, the pregnancies could be prolonged to more than 30 weeks' gestation. DISCUSSION: In the absence of additional risk factors, expectant, conservative management of multiple pregnancies after loss of one fetus can lead to pregnancy prolongation of 91 and 96 days, respectively. The gained gestational age of the remaining fetus and the healthy mother-child pairs are discussed under perinatal, economical and psychological aspects.
We report on a phenotypically male newborn with 45,X/46,X,dic(Y)-mosaicism. Right-sided inguinal hernia was surgically corrected. Histological examination of the tissue revealed an ambiguously differentiated gonad on this side. The clinical, cytogenetic, and histological results are described and the prognosis and clinical management of these patients are discussed.
The case of a patient with severe fever in the puerperium is presented. Ultrasound, CT, and MRI revealed multiple myomas; all the myomas, even the smallest ones, were hypodense on pre- and postcontrast enhanced CT and presented with high signal intensities on T2-weighted MRI. After hysterectomy, histology demonstrated necrosis of all leiomyomas without hemorrhage or inflammatory reaction. Therefore, fever was caused solely by extensive necrotic degeneration of the fibroids, probably due to hypoperfusion related to delivery or hormonal changes during pregnancy and puerperium.
Giant cell tumor of the bone is usually located within the epiphysis of a long bone, the majority of the lesions occurring in the third and fourth decades of life. We report an unusual case of giant cell tumor (GCT) arising in the parietal skull bone of a 9-year-old girl. The tumor exhibited histologic findings typical for GCT, with conspicuous intravascular giant cells. Based on microscopic features, not only conditions like aneurysmal bone cyst or bone changes associated with hyperparathyroidism but also tumors such as chondroblastoma or osteosarcoma had to be considered. Immunohistochemistry revealed strong reactivity of the tumor giant cells and normal bone osteoclasts with CD68 but not Mac-387; tumor stromal cells were uniformly negative for both. The stromal cells exhibited two immunohistochemically distinct phenotypes. One, involving 50-80% of the tumor cells, exhibited negative lysozyme staining with positivity of proliferating cell nuclear antigen (PCNA) in about 30% of the nuclei. The other showed reactivity with lysozyme but negative PCNA staining. Immunohistochemistry thus helped to distinguish chondroblastoma and osteosarcoma, in which lysozyme positivity would reside in macrophages but not within stromal cells. Instead, chondroblastoma would exhibit protein S-100 positivity in the tumor cells. The biological behavior of GCT is difficult to predict based on morphology alone, although the malignant potential seems to rest in the stromal cells rather than the giant cells. Specifically, in reported cases, the intravascular occurrence of giant cells in GCT is not associated with an increased incidence of metastasis.
BACKGROUND: The aim of this study was to develop and characterize a mouse xenograft model for the hypercalcemic-type of small cell carcinoma of the ovary (HTSCCO). PATIENTS AND METHODS: Tumor fragments were removed from a patient and cultured in six subsequent generations of nude mice. Histology, comparative genomic hybridization (CGH), electron microscopy and serum calcium levels were investigated. RESULTS: Morphology remained the same from the primary tumor of the patient through the 6th passage in the mouse. Serum calcium levels were significantly higher in the tumor-bearing mice compared to controls. CGH of the HTSCCO did not show evidence of a close relationship to either a germ cell tumor or an epithelial ovarian cancer. CONCLUSION: Some evidence was provided that the HTSCCO is an inhomogeneous tumor that is neither related to a germ cell tumor nor to an epithelial ovarian cancer, but is a distinct tumor entity.
Congenital defects of predominantly cell-mediated immunity without other major defects or recognizable enzyme deficiency are classified "severe combined immunodeficiency" (SCID). Affected thymuses are severely reduced in size, microscopically they show only few lymphocytic cells and a cortico-medullary boundary is missing as well as Hassal's corpuscules. The primary defect is not yet clear. In this study 4 such cases were examined. The intrathymic epithelial cells showed expression of different cytokeratins and the typical strong positivity for the major histocompatibility complex. Lymphoid cells were phenotyped immunohistochemically and appeared as a very small population of cortical thymocytes, which was especially clear in a prenatally diagnosed and aborted fetus. His thymus, not altered by stress of infection or bone marrow transplantation, showed those few lymphocytes clustered around epithelial cells. The finding suggests an arrest in maturation and cell amplification rather than the absence of stem cells in the pathogenesis of SCID. Alterations in the thymic microenvironment could not be revealed by our methods.