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Biomedical subjects

P Moerman

Publications and source records attributed to P Moerman.

At least 109 records · Page 6Linked to original sources
PubMed1993

Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?

A male newborn with acromesomelic short limbed dwarfism, genital hypoplasia, and vertebral anomalies is reported. As the child had an important number of clinical and radiological symptoms seen in patients with Ellis-van Creveld syndrome, we raise the question of whether he may represent a variant example of this syndrome despite the absence of cardinal symptoms such as postaxial polydactyly and ectodermal changes (nail hypoplasia).

Abnormalities, Multiple↗
PubMed1993

Nager acrofacial dysostosis and preaxial polydactyly: a further example with lethal outcome.

A sporadic malformed premature stillborn showing the typical craniofacial features of mandibulofacial dysostosis combined with unilateral extra thumb and visceral anomalies is described and classified as a preaxial acrofacial dysostosis of the Nager type (NAFD). Comparison with other rare similar cases reported in the literature is made and genetic heterogeneity discussed.

Abnormalities, Multiple↗
PubMed1993

Goldston syndrome reconsidered.

We describe two siblings with the combination of central nervous system malformations, renal dysplasia and hepatic ductal plate malformation. Based on the occurrence of a cerebellar Dandy-Walker malformation (variant), the diagnosis of Goldston syndrome was proposed in the first case. The second sibling however, showed a typical Meckel syndrome with occipital encephalocele. Both cases had a cranium bifidum with two defects in the squamous part of the occipital bone. This observation confirms that Goldston syndrome is not a distinct entity but merely a variant of Meckel syndrome, and that a cerebellar Dandy-Walker malformation can be a component of Meckel syndrome.

Abnormalities, Multiple↗
PubMed1993

Value of MRI in the diagnosis and staging of testicular tumors.

Ultrasound is currently the primary imaging modality for the assessment of scrotal disease. In acute pathology, colour Doppler adds further confirmation about blood flow to the testicles and surrounding structures. MR is emerging as a powerful tool to image the scrotum. Compared with sonography, MR has a wider field of view and a greater tissue contrast. The current status of MR imaging and its role in the evaluation and local staging of testicular tumors is evaluated in this retrospective study. MR is able to differentiate seminomatous from non-seminomatous tumors in nearly all cases. However, stromal tumors (e.g. Leydig cell tumors) cannot be differentiated from seminomatous tumors, and some benign lesions, as an intratesticular hematoma, cannot be differentiated from non-seminomatous tumors. Microscopic extension in or beyond the tunica albuginea cannot be evaluated.

Dysgerminoma↗
PubMed1992

Numerical chromosome aberrations in fibrothecoma.

Cytogenetic analysis on a 7-day-old culture of a fibrothecoma showed only numerical chromosome abnormalities: 57, XX, +4, +5, +6, +10, +12, +12, +14, +17, +18, +19, +20. The finding of an extra copy of chromosome 12 in mesenchymal tumors, mostly benign and originating from the female genital tract, may possibly point towards their common embryonic origin.

Adult↗
PubMed1992

Constrictive amniotic bands, amniotic adhesions, and limb-body wall complex: discrete disruption sequences with pathogenetic overlap.

In a fetopathologic evaluation of 18 cases with amniotic bands, we discerned 3 types of lesions: (1) constrictive tissue bands, (2) amniotic adhesions, and (3) more complex anomaly patterns, designated as limb-body wall complex (LBWC). Constrictive bands are caused by primary amnion rupture with subsequent entanglement of fetal parts (mostly limbs) by shriveled amniotic strands. Adhesive bands are the result of a broad fusion between disrupted fetal parts (mostly cephalic) and an intact amniotic membrane. Most of the craniofacial defects (encephaloceles and/or facial clefts) occurring in these fetuses are not caused by constrictive amniotic bands, but are the result of a vascular disruption sequence with or without cephalo-amniotic adhesion. Our observations confirm the fact that amnion rupture is not a conditio sine qua non for the development of LBWC. However, LBWC is often complicated by rupture of the unsupported amnion with ensuing formation of constrictive bands. We think that the concept that considers the 3 lesions in question as a single pathogenetic entity is erroneous and will inevitably lead to a never-ending debate between followers of the 2 prevailing theories. In our view, the theories of Streeter and Torpin are not mutually exclusive but rather apply to different types of lesions. The recognition of constrictive amniotic bands, amniotic adhesions, and LBWC as discrete but often combined disruption sequences with important pathogenetic overlap may resolve many dilemmas in interpretation when a fetus exhibits classical constrictive bands beside more severe defects.

Amnion↗
PubMed1992

Acrofacial dysostosis syndrome type Rodriguez: a new lethal MCA syndrome.

We present a female fetus with the lethal acrofacial dysostosis syndrome recently delineated by Rodriguez et al. [1990]. The present findings confirm that this syndrome constitutes a true MCA syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, the urogenital tract, heart, and lungs.

Abnormalities, Multiple↗
PubMed1992

Ovarian borderline mucinous tumor in a premenarchal girl: review on ovarian epithelial cancer in young girls.

Ovarian tumors constitute the most common gynecological neoplasms during childhood. Unlike in adult women, ovarian epithelial tumors are uncommon in young girls and extremely rare prior to menarche. To our knowledge this is the first report of a borderline malignant mucinous tumor of the ovary in a premenarchal girl. It was successfully treated by conservative surgery. In our review of ovarian neoplasms in girls under 20 years of age, epithelial tumors were found in 19.3%, with a malignancy rate of 15.9%. Of these malignant tumors, 39.4% were of the mucinous type and 30.3% were borderline malignant. The occurrence of such a tumor at this age underscores the possibility of malignant transformation of the ovarian epithelium even prior to menarche. Its mucinous nature confirms the predominance of the mucinous subgroup in young girls. Hypotheses on the origin of mucinous tumors are discussed.

Adolescent↗
PubMed1992

CA 125 concentrations in ovarian 'chocolate' cyst fluid can differentiate an endometriotic cyst from a cystic corpus luteum.

In a prospective study, the concentrations of CA 125, 17 beta-oestradiol and progesterone were assayed in 52 consecutive ovarian cysts, laparoscopically suspected to be endometriomas. Cysts with dark brown 'chocolate' fluid (n = 42) were excised by CO2-laser endoscopy. Cysts with clear fluid were diagnosed by pathology as follicular cysts (n = 5) or pseudoperitoneal cysts (n = 5). Fluids (n = 53) aspirated during echo-guided puncture for in-vitro fertilization (IVF) were assayed simultaneously. Of the 42 women undergoing a cystectomy, the clinical diagnosis of an endometrioma was confirmed by pathology in only 68%, the other cases being corpora lutea (27%) or follicular cysts (5%). Cyst fluids from corpora lutea had lower CA 125 concentrations (< 1000 IU/ml) together with high 17 beta-oestradiol concentrations (> 2000 pg/ml) and/or high progesterone concentrations (> 100 ng/ml). Endometriotic cysts had either very high CA 125 concentrations (> 10,000 IU/ml) as occurred in 78% or lower CA 125 concentrations (< 1000 IU/ml) together with low 17 beta-oestradiol and/or progesterone concentrations. 'Chocolate' fluid-containing cysts aspirated during IVF had similar concentration profiles of CA 125, 17 beta-oestradiol and progesterone and the diagnoses derived from these concentrations were not contradicted in 19/27 women undergoing a laparoscopy within 4 months. In eight women, however, with high CA 125 concentrations in their cyst fluid, no endometriotic cysts were found at laparoscopy. Only 68% of cysts containing 'chocolate' material were endometriotic cysts and CA 125 could be useful in making this diagnosis. This method is recommended when dark brown fluid is aspirated in IVF.

Antigens, Tumor-Associated, Carbohydrate↗
PubMed1992

Pathogenesis of congenital cystic adenomatoid malformation of the lung.

Congenital cystic adenomatoid malformation is a rare developmental abnormality of the lung. In most earlier reported cases, the anatomy of the bronchial tree was poorly documented. We describe four cases studied following autopsy. Post-mortem bronchography or serial microscopical examination showed segmental bronchial absence or atresia in each of them. Our observations provide further evidence pointing to bronchial atresia as being the primary defect leading to the development of congenital cystic adenomatoid malformation. The morphology of the lesion, i.e. the type of malformation, is determined by the extent of dysplastic lung growth beyond the atretic segment. The aetiology of the bronchial atresia is probably heterogeneous and may either represent a primary malformation, or be the result of vascular disruption.

Autopsy↗
PubMed1992

Laryngeal atresia sequence as part of the DiGeorge developmental field defect.

The subject of the present report is a male newborn with laryngeal atresia (LA) type I, giving rise to a malformation sequence consisting of overdistended polyalveolar lungs and nonimmune fetal hydrops with massive ascites. The infant was chromosomally normal and the first child of consanguineous parents. Retention of liquid secreted by the fetal lungs in utero was the pathogenetic mechanism, responsible for the LA sequence. The LA was part of a complex constellation of anomalies, compatible with the DiGeorge developmental field defect.

Asphyxia Neonatorum↗
PubMed1992

Early venous coronary bypass graft occlusion in a patient with non-specific aortitis: a case report.

A 58-year-old woman with aortic valve regurgitation and bilateral ostial coronary artery stenosis due to non-specific aortitis is presented. Four months after aortic valve surgery and venous bypass surgery, orificial occlusion or high grade stenosis of the bypass grafts occurred. Repeat coronary arteriography was followed by cardiac arrest and emergency surgery but patient did not survive. The etiology, pathological findings and surgical approach are discussed.

Aorta↗
PubMed1992

Tetraphocomelia and bilateral femorotibial synostosis. A severe variant of the thrombocytopenia-absent radii (TAR) syndrome?

In this report we describe severe tetraphocomelia with complete femorotibial fusion in a second trimester male fetus. The association of severe tetraphocomelia-femorotibial synostosis has previously been reported in three patients as examples of a severe variant of the thrombocytopenia-absent radii (TAR) syndrome. In the present fetus no morphological abnormalities of the megakaryocytes were detected. This observation is not in favour of the hypothesis that abnormalities of the primordial megakaryocytes may be causally related with the pathogenesis of the limb malformations as present in this syndrome.

Ectromelia↗