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Biomedical subjects

B R Elejalde

Publications and source records attributed to B R Elejalde.

48 records · Page 3Linked to original sources
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↗
PubMed1979

Clinical genetics and pediatric neoplasms: pathogenetic and etiologic perspectives.

Clinical and genetic aspects of pediatric neoplasms were reviewed from pathogenetic and etiologic perspectives. Developmental principles and phenomena common to several tumors and tumor syndromes were identified, summarized, and critically evaluated. Their enumeration may be useful in future cancer research. No single hypothesis on the cause and pathogenesis of cancer appears to apply to all disorders. We believe that multiple causes and pathways lead to the phenotype "cancer" and that in particular the pathogenetic relationship between tissue dysplasias and cancers deserves increased attention.

Child↗
PubMed1978

Clinical cytogenetics: part 1.

This paper is an introduction to the cytogenetic biology of man. It deals with the role of chromosome abnormalities in prenatal death, malformation syndromes, mental retardation, malformation/mental retardation syndromes, abnormalities of sex determination, sex differentiation and sexual function, cancer, and certain genetic disorders in which chromosome abnormalities are seen commonly. Down syndrome is discussed as an important and common example of a malformation/mental retardation syndrome.

Adult↗
PubMed1977

The trisomy 4p syndrome: case report and review.

We report a further case of trisomy 4p: a 5-year-old mentally retarded boy with characteristic facial features, eye abnormalities, flexion contractures, several bone anomalies, and hyperactivity. In a review of 27 cases (11 male, 16 female, 22 families) the cytogenetic and clinical data were tabulated and analyzed. Diagnosis is established by karyotype: there is always partial or apparently "total" trisomy of the short term arm of chromosome 4. In 19 families a parent carried either a balanced translocation (16 times) or a pericentric inversion (3 times); 3 patients had de novo duplication of 4p. In several cases, additional deletions or trisomies were present. From the analysis of all cases, but particularly of the "pure" trisomies, the phenotypic spectrum of this condition was observed and found to be a specific multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its main features are a characteristic facial appearance, postnatal growth retardation, severe psychomotor retardation with or without seizures, microcephaly, and various major and minor anomalies.

Bone and Bones↗
PubMed1977

Principles of genetics applied to medicine.

Genes and environment interact continuously throughout life, from the moment of conception, to regulate and affect all aspects of human structure and function. The normal rules of mendelian inheritance, ie, the transmission of genes over the generations, are usually best studied by observation of abnormal mutations, especially in plants and animals under precise breeding conditions. The study of such didactic models as the guinea pig crosses discussed here is a prerequisite to an understanding of mendelian genetics in man and the terms used in other articles to appear in this series.

Albinism↗
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↗