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Biomedical subjects

A Calabro

Publications and source records attributed to A Calabro.

At least 73 records · Page 4Linked to original sources

Fibrochondrogenesis: radiologic and histologic studies.

Fibrochondrogenesis is a distinct, neonatally lethal, short-limb skeletal dysplasia which was first described in a single patient in 1978. We report the radiographic and morphologic studies of 2 additional unrelated stillborn infants with fibrochondrogenesis. This syndrome has distinct radiographic and chondro-osseous morphologic defects different from those seen in the other known skeletal dysplasias. The long bones are short and dumbbell-shaped with metaphyseal flare. The spine is platyspondylic with superior-inferior clefting defects, and the ribs are short and distally cupped. The growth-plate cartilage is grossly disorganized and has a densely fibrous collagenous matrix when examined by light and electron microscopy. Light, transmission, and scanning electron microscopy shows diaphyseal and metaphyseal trabecular bone to be normal.

Abnormalities, Multiple↗

Lonidamine and hyperthermia: clinical experience in melanoma. Preliminary results.

Lonidamine alone or in combination with hyperthermic perfusion, with or without melphalan, was investigated in 12 patients with stage II, III, and IV malignant melanoma. The authors evaluated the most effective methods and sequence of Lonidamine administration. Preliminary results suggest that the highest effectiveness is obtained with the simultaneous administration of Lonidamine and hyperthermia.

Administration, Oral↗

De novo duplication 1q32-q42: variability of phenotypic features in partial lq trisomics.

A de novo tandem duplication 1q32--q42 was observed in a 7-month-old mentally retarded and malformed male infant. Karyotype-phenotype correlation in other similar unbalanced trisomies has shown psychomotor retardation, micro- or retrognathia or both, and low set or malpositioned ears to be the most common features associated with this newly recognised syndrome. However, after reviewing patients with duplication of regions 1q2, 3, and 4 and 1q2 and 3, it was concluded that similar non-specific clinical features are also present in these 1q imbalances. On the whole, a rather wide range in phenotypical expression has been observed in different cases. Thus it is concluded that, at present, it is impossible to delineate the profile of the syndromes resulting from partial 1q trisomies.

Abnormalities, Multiple↗

Interstitial deletion 13q syndromes: a report on two unrelated patients.

A partial monosomy 13 by interstitial deletion was found in the complement of two patients with mental retardation and mild dysmorphic features. Neither of the patients had a retinoblastoma, even though the second patient had a 13q14 deletion. The karyotype-phenotype correlation in the two patients suggests the need to reconsider the clinical profile of these rare chromosomal syndromes in a large series of subjects.

Adolescent↗

[Radiological diagnosis of tumours of brain stem (author's transl)].

Cerebral pneumography, positive ventriculography and vertebral angiography were employed in the examination of 154 of tumour of brain stem at Departments of Neuroradiology in the city of Naples between 1962 and 1974. The findings in various sites are described and discussed and several examples are presented.

Brain Neoplasms↗

Hand dermatoglyphics in trisomy 4p.

A dermatoglyphic analysis of the hands of 16 patients with trisomy for the short arm of chromosome 4 has revealed an increased frequency of whorl patterns on fingertips, presence of axial triradii in position t' on palms and an increase of the main line index. Although of little diagnostic value these changes must be included in the constellation of major signs which characterize the 4p trisomy syndrome.

Chromosomes, Human, 4-5↗

Treatment of acrodermatitis enteropathica with zinc sulphate. Rerport of 3 cases.

The therapeutic effect of orally administered zinc in 3 patients affected with Acrodermatitis enteropathica is reported. Single daily doses of zinc resulted in rapid improvement of the general condition of these patients and in clinical remission within a week. Serum, urine and hair zinc levels as well as alkaline phosphatase, which were very low before treatment, returned to normal after therapy. This brief report confirms the efficacy of oral zinc in the treatment of Acrodermatitis enteropathica.

Acrodermatitis↗

Trisomy 2q.

Two unrelated patients with trisomy 2q32 leads to q37, resulting from maternal balanced translocations t(2; 13) (q32 q33) and t(2; 15) (q32 q26) are reported. Conparison of the clinical findings suggests that trisomy 2q is associated with a rather characteristic constellation of symptoms and malformations.

Abnormalities, Multiple↗

[Extracranial angioma with dural participation].

Extracranial congenital arteriovenous malformations are often associated with dural and/or cerebral malformations. One case is presented. The angiography of the common carotid artery revealed no evidence of abnormal vessels into the internal or external carotid territory. The injection of contrast medium into an enlarged epicranial vein showed the extracranial malformation, well opacified; the phlebography revealed also a small dural malformation draining in the superior sagittal sinus. The Authors outline the importance of complete angiographic study in all the cases of extracranial vascular malformations even if the carotid angiography is apparently normal.

Angiography↗