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Biomedical subjects

M M de Elejalde

Publications and source records attributed to M M de Elejalde.

27 records · Page 2Linked to original sources
PubMed1983

Prenatal diagnosis of perinatally lethal osteogenesis imperfecta.

Prenatal diagnosis of osteogenesis imperfecta was achieved at 17 weeks of gestation using ultrasound through recognition of low echogenic properties of all the bones, abnormally shaped skull, bell-shaped rib cage, distally thinned ribs, short and deformed long bones, wide metaphyses, and thin diaphyses. Severely limited abnormal movements, abnormal positioning of the lower limbs also were typical of the condition. The recognition of the signs reported in this paper will allow the identification of the condition in utero in the second trimester.

Adult↗
PubMed1979

Hallervorden-Spatz disease.

We had the opportunity to study a family, five of whose members were affected by the Hallervorden-Spatz disease (three males and twin girls). The characteristics of the condition were analyzed and compared with those cases considered by other authors to be affected by the condition. Intrafamilial and interfamilial variations were analysed, and it was the latter that contributed most to the overall variation of the condition. It was clearly established from the reported cases and our family that this is an autosomal recessive condition (P greater than 0.23 +/- 0.08). It is suggested that the condition probably originated in Europe and that it is caused by an inborn error of metabolism related to neuromelanin and the dopaminergic system. The condition affects the muscular tone and voluntary movements progressively, making voluntary coordinated movements, and chewing and swallowing almost impossible, and in the last part of its development mental deterioration, emaciation, severe feeding difficulties and visual impairment are common clinical manifestations. The ages of both onset and death are distributed in a unimodal curve. The mean survival time after diagnosis was 11.18 +/- 7.8 years.

Basal Ganglia Diseases↗
PubMedDate not supplied

Ureteral ejaculation of urine visualized by ultrasound.

This article describes an ultrasonographic noninvasive method for the visualization of the ureteral ejaculation of urine into the bladder and its use in 99 normal women and in one affected by a previously unsuspected bilateral hydronephrosis and hydroureter.

Female↗