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Biomedical subjects

M Gonzales

Publications and source records attributed to M Gonzales.

80 records · Page 5Linked to original sources

[Expression of CD44-standard in 182 primary neuroblastomas].

182 untreated neuroblastomas were examined for the expression of the adhesion molecule CD44s by immunohistochemistry; all tumors were also tested for amplification of the oncogene N-myc by conventional Southern blot analyses. Positive CD44s immunoreactivity correlated not with a more favorable prognosis in contrast to an absence of CD44s expression in stage dependent or independent evaluations. All patients with stage 4S disease (n = 16) expressed CD44s on a high level and had an event-free survival probability of 82%. In undifferentiated neuroblastoma subgroups could be defined, depending on the expression of CD44s (p < 0.01). In 93% of N-myc non-amplified tumors CD44s expression was detected, whereas only 62% of N-myc amplified tumors were positive for CD44s expression. These results point to CD44s expression as a new histological marker in neuroblastoma, having prognostic impact in tumors of undifferentiated morphology.

Biomarkers, Tumor↗

Usefulness of fluorescence in situ hybridization for the diagnosis of Turner mosaic fetuses with small ring X chromosomes.

OBJECTIVE: To emphasize the usefulness of fluorescence in situ hybridization (FISH) techniques on uncultured amniocytes for the diagnosis of abnormal mosaic karyotypes. METHODS: In the course of three prenatal diagnoses, specific fluorescent probes, coding, respectively, for chromosomes X, Y, 18, 13, and 21, were applied on amniocyte preparations directly after amniocentesis. At least 50 nuclei were counted in each case. Parallel to the FISH procedure, cell cultures were set up in order to obtain karyotypes. FISH and cytogenetic results were then compared. RESULTS: In each case, FISH showed an abnormal mosaic chromosomal constitution, 45,X/46,XX, which was related to the existence of tiny ring X chromosomes in karyotypes. CONCLUSION: Because very small ring X chromosomes can escape identification when standard cytogenetic techniques are used alone, we show that misdiagnosis can be avoided when FISH is performed beforehand.

Adult↗

Linear insertion of atrioventricular valves without septal defect: a new anatomical landmark for Down's syndrome?

Our objective was to explore whether minor anatomical abnormalities of the septal insertion of tricuspid and mitral valves could be a feature of trisomy 21 in fetuses with an otherwise normal heart. Postmortem examinations were performed in 41 fetuses affected by Down's syndrome and in 52 controls. Adjoining the standard postmortem procedure, an apex-to-base section of the crux of the heart was made on a plane corresponding to the sonographic four-chamber view. This allowed gross and histological examination of the hinge points of tricuspid and mitral leaflets, showing the usual apical displacement of the tricuspid valve in all controls. Of 41 fetuses affected by Down's syndrome, 18 had a structural heart defect. Of the 23 Down syndrome fetuses without a patent heart defect, 16 (i.e., 69% of those considered as having 'normal hearts') had nevertheless a linear insertion of atrioventricular valves at autopsy. Prospective clinical studies are required to evaluate if these postmortem findings can be transposed to the clinical setting of 2nd-trimester sonographic screening.

Down Syndrome↗

[Use of transthoracic impedance in the monitoring of ventilation in neonatal resuscitation].

Continuous transthoracic impedance recording is a useful procedure for pulmonary ventilation control in term and preterm infants. The innocuity, ease and reliability of this method makes its use possible in neonatal intensive care. Its convenience is obvious in some physiological and pathological circumstances especially during apnea. The conditions of application, the physiological origins of impedance variations and the present limits of utilization are discussed.

Electrocardiography↗

Mental health services for children in out-of-home care.

This article documents the risk factors and high incidence of psychopathology among children in out-of-home placements. A framework and guiding principles for mental health service delivery are described that are consistent with the clinical needs of children in care and the child welfare goal of permanency.

Child↗