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Biomedical subjects

L Antunes

Publications and source records attributed to L Antunes.

28 records · Page 2Linked to original sources
PubMed1994

[The Ellis-Van Creveld syndrome. Apropos 2 clinical cases].

The chondroectodermal dysplasia--Ellis-Van Creveld Syndrome--is an unusual form of congenital disease, genetically transmitted with a recessive autosomal pattern, which involves the skeletal system, nails and teeth. In about 50 to 60 percent of cases, the affected individuals show cardiac abnormalities, and the most common are single atrium, large atrial septal defect, ostium primum type. Other abnormalities may accompany these lesions, such as aortic atresia, hypoplasia of the ascending aorta or of the left ventricle. About half of the patients die in the childhood due to cardiorespiratory complications. Two cases are described with this syndrome, a male and a female, with 54 and 45 years old respectively; they were followed in our Departments and showed congestive heart failure and single atrium. These cases led us to review the subject; we believe that the unusual longevity of these patients can be related to their relatively benign cardiac disease.

Ellis-Van Creveld Syndrome↗
PubMed1994

[A left intraventricular thrombus in an adolescent. Its relationship to the anticardiolipin antibody syndrome].

The authors are going to present the clinical case of a 14-years-old female patient who has got an anticardiolipin antibodies syndrome, a theme to which they add some ideas concerning physiopathology and diagnosis criteria. They'd like to emphasise the echocardiographic observation, which allowed them to find out and follow the evolution of a left sided intraventricular thrombus, the real cause for the systemic thrombosis.

Adolescent↗
PubMed1983

Crossed optic ataxia: possible role of the dorsal splenium.

An unusual combination of disconnective syndromes is reported: transcortical motor aphasia, left arm apraxia and optic ataxia. Neuropathological examination showed a left parieto-occipital and a subcortical frontal infarct and a lesion of the dorsal part of the posterior two-fifths of the callosum. The frontal lesion caused the transcortical motor aphasia and produced the left arm apraxia. Visuomotor incoordination in the right hemispace was due to the left parieto-occipital infarct, while the crossed optic ataxia in the left hemispace was attributed to the callosal lesion. It is proposed that the pathway that serves crossed visual reaching passes through the dorsal part of the posterior callosum. This case reinforces the growing evidence that fibres in the corpus callosum are arranged in ventro-dorsal functional lamination.

Aged↗
PubMedDate not supplied

[Imaging findings in hypertensive encephalopathy].

Hypertensive encephalopathy is a neurologic syndrome caused by a marked and rapid rise of blood pressure above baseline levels. Efficacy of current anti-hypertensive drugs greatly diminished the frequency of this situation in which diagnosis is essentially based on clinical parameters. This can justify the few papers found in radiologic literature. Nevertheless it is sometimes important to exclude ischemic or hemorrhagic complications or establish a differential diagnosis with other neuropathologic conditions. Then a striking imagiologic picture of focal or diffuse reversible edema of cerebral white matter can be found. We present three clinical cases of hypertensive encephalopathy. Imagiologic findings are reviewed and correlated with the pathophysiologic basis of the disease.

Adolescent↗
PubMedDate not supplied

Gene alterations and apoptosis in rhabdomyosarcoma.

The aim of the study is to look retrospectively for gene alterations and evaluate apoptosis in rhabdomyosarcomas (RMSs) from 40 children including 24 patients not previously treated. Histological subtype was botryoid in 1 case, spindle cell in 2 cases, embryonal in 22 cases, alveolar in 10 cases, and undetermined in 5 cases. Gene expression was evaluated immunohistochemically for p53 tumor suppressor gene, MDM2 oncogene, and bcl-2 gene. N-myc amplification was detected by in situ hybridization. Apoptotic cells and bodies were recognized morphologically and stained by 3-OH end labeling. Intranuclear accumulation of p53 protein was obvious (> 25% of tumor cells) in two recurrent embryonal RMSs. Expression of the MDM2 gene was intense (80% of tumor cells) in a recurrent and metastatic embryonal RMS. Amplification of the N-myc gene was obvious (about 20% of tumor cells) in an alveolar RMS metastatic at diagnosis. Expression of the bcl-2 gene was intermediate (25-75% of tumor cells) in 26% of cases and high (> 75% of tumor cells) in 10% of cases either embryonal or alveolar. The percentage of tumor cells showing morphologically recognizable apoptosis was 0.2-7.5% (mean 2.9%). There was no correlation between apoptosis and histological subtype, bcl-2 expression, or previous treatment.

Adolescent↗