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Biomedical subjects

P Moerman

Publications and source records attributed to P Moerman.

At least 91 records · Page 5Linked to original sources
PubMed1995

Meigs' syndrome with elevated serum CA 125 levels: two case reports and review of the literature.

Two cases of Meigs' syndrome in association with elevated serum CA 125 levels are reported. The significance of Meigs' syndrome lies in the fact that neither ascites nor pleural effusion is necessarily an ominous sign in women with a pelvic tumor. Although there is a strong correlation between ovarian malignancy and elevated serum CA 125 levels, several benign conditions have been found to cause a rise in CA 125 levels. It is important to remember that a pelvic neoplasm in a woman presenting with hydrothorax, ascites, and elevated CA 125 levels might be benign and that this condition can rapidly be resolved with surgical removal. Neither ultrasound examination nor computed tomography can reliably offer a preoperative diagnosis.

Adnexa Uteri↗
PubMed1995

Fetal akinesia sequence caused by glycogenosis type VII.

We report on the autopsy study of a premature boy with multiple joint contractures who died soon after birth of severe lung hypoplasia. Muscle histology showed PAS-positive vacuoles, and electronmicroscopy revealed massive subsarcolemmal and intermyofibrillar accumulation of glycogen. Biochemical analysis of fresh-frozen muscle tissue disclosed increased glycogen content and a complete lack of phosphofructokinase (PFK) activity. The brain showed focal cerebral and diffuse cerebellar white matter gliosis, and patchy loss of internal granular and Purkinje cells in the cerebellar cortex. The spinal cord was normal. This report describes the first case of PFK deficiency, presenting as a lethal fetal akinesia sequence.

Abnormalities, Multiple↗
PubMed1994

Intractable asphyxia at birth: analysis of the underlying conditions.

A review of clinical and pathological data on 10,000 consecutive deliveries revealed that the incidence of unexpected and intractable asphyxia at birth despite adequate resuscitation was 0.24%. Lung hypoplasia appeared to be the underlying non-viable condition in 22 out of 24 infants. Attention is drawn to congenital neuromuscular disorders which were found to be the cause of lung hypoplasia in at least 4 out of 22 infants. Some helpful hints for diagnosis are given which may contribute to the final decision making.

Asphyxia Neonatorum↗
PubMed1994

Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida.

Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital cataracts, joint contractures, skin changes, and failure to thrive. Prenatal ultrasound diagnosis has been reported during the second trimester of pregnancy. Prenatal diagnosis is also possible from the first trimester onwards by demonstration of peroxisomal dysfunction in cultured chorionic villous or amniotic fluid cells. In all cases reported hitherto, the prenatal diagnosis was established after the birth of a previous affected child. In contrast to these studies in pregnant multiparous women at risk for RCDP, we report on the first case of prenatal ultrasound diagnosis of RCDP at 19 weeks' gestation in a primigravida. In addition, a complex cardiac malformation associated with hypoplasia of the thymus (DiGeorge anomaly) is described.

Adult↗
PubMed1994

Pleuropulmonary blastoma (pulmonary blastoma of childhood): genetic link with other embryonal malignancies?

A case of pleuropulmonary blastoma (childhood variant of pulmonary blastoma) was examined using histological, immunohistochemical, ultrastructural and cytogenetic methods. The tumour consisted of undifferentiated 'blastematous' areas admixed with zones of rhabdomyoblastic and chondroid differentiation and fascicular areas. Desmin and S-100 protein immunoreactivity confirmed the myogenic and cartilaginous differentiation. Ultrastructurally only undifferentiated mesenchymal cells were present. The cytogenetic analysis revealed abnormalities of 2q. Involvement of 2q has also been described in hepatoblastoma and embryonal rhabdomyosarcoma. Although further confirmation is needed, our cytogenetic findings in pleuropulmonary blastoma suggest common genetic mechanisms in some paediatric embryonal malignancies.

Biopsy↗
PubMed1994

Esophageal metastasis from breast carcinoma.

A case of esophageal metastasis from a breast carcinoma is presented. Location was, as usual, midesophageal. The interval of time between breast carcinoma and the onset of esophageal symptoms was rather long. Barium swallow examination enabled correct diagnosis, whereas several series of superficial endoscopical biopsies were negative. Diagnosis was confirmed by deep endoscopical biopsy.

Breast Neoplasms↗
PubMed1994

Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect.

We present a female fetus with combination of Pierre Robin anomaly and nuchal oedema, bilateral radial defects, multiple hand malformations including bilateral hyperphalangy, brachymesophalangy, costovertebral abnormalities, and complex cardiac malformation. The present findings constitute a true MCA syndrome with uncertain pattern of inheritance.

Abortion, Eugenic↗
PubMed1993

Congenital pulmonary lymphangiectasis with chylothorax: a heterogeneous lymphatic vessel abnormality.

We report on 7 perinatal autopsy cases of primary congenital pulmonary lymphangiectasis (CPL) with bilateral chylothorax. This study demonstrates that primary CPL is often complicated by chylous pleural effusions with ensuing pulmonary hypoplasia. Conversely, CPL appears to be a constant pathological finding in spontaneous congenital chylothorax. These observations indicate a common pathogenesis for both disorders. The basic defect is not an intrinsic lung abnormality, but a developmental error of the lymphatic system resulting in a pulmonary lymphatic obstruction sequence. The cause of CPL is heterogeneous. Apparently, most cases are sporadic occurrences. We report the second instance of CPL in sibs. This indicates that some cases are genetically determined with autosomal recessive inheritance. CPL may also be part of a multiple congenital anomalies (MCA) syndrome such as Noonan, Ullrich-Turner, and Down syndrome.

Abnormalities, Multiple↗
PubMed1993

Endometrial polyp: another benign tumor characterized by 12q13-q15 changes.

Clustering of aberrations to specific chromosome regions of benign tumors may indicate the location of genes related to the proliferative process. Although few endometrial polyps have been cytogenetically investigated, 6p21 band appears to be involved consistently in the chromosome changes. We report two cases of this type of benign tumor with chromosome rearrangements in 12q14-15, allowing identification of a second cytogenetic subgroup in endometrial polyps.

Chromosome Aberrations↗
PubMed1993

Rearrangement of 12q14-15 in pulmonary chondroid hamartoma.

Cytogenetic analysis of a pulmonary chondroid hamartoma showed an inv(12)(p13q14-15) as the sole abnormality. This finding together with previously reported data is an indication that the 12q14-15 region may be nonrandomly involved in the pathogenesis of this tumor type.

Adult↗