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Biomedical subjects

B R Elejalde

Publications and source records attributed to B R Elejalde.

At least 37 records · Page 2Linked to original sources
PubMed1985

Visualization of the fetal spine: a proposal of a standard system to increase reliability.

We describe a method for the morphological, developmental, and functional analysis of the fetal spine. Using this system, different types of spina bifida and hemivertebrae have been discovered. A system of quality control and documentation is proposed and cases that were not detected ultrasonographically are described. The results of the analyses of seven abnormal fetuses out of 818 pregnancies examined by us and three referred after birth are presented, including fetuses with caudal regression, spina bifida, hemivertebrae with lordosis and kyphosis, and spina bifida without ultrasonographic or radiologic evidence of bone abnormality. Cases that were not diagnosed ultrasonographically by other observers are presented.

Abnormalities, Multiple↗
PubMed1985

Thanatophoric dysplasia: fetal manifestations and prenatal diagnosis.

This paper describes two fetuses with thanatophoric dysplasia (TD) diagnosed in utero by ultrasonography. The fetuses were found to have severely short (less than 3rd centile), mildly bowed bones in one of them at 20 weeks and straight bones in the other at 34 weeks; bell-shaped chest; abnormal ribs (broadened and flattened at their ends); severe lung hypoplasia; hypoplastic, round-shaped vertebral bodies with hypoplastic arches; abnormally small pelvic bones, phalanges, metacarpals, and metatarsals. There was also an incipient "cloverleaf" skull deformity produced by fused posterior sagittal and lambdoidal sutures in the 20-week fetus and a definitive cloverleaf skull with communicating hydrocephaly in the 34-week fetus. The autopsies did not show any other abnormality. By xeroradiography after delivery, marked abnormalities of the endochondral and perichondral bone structures could be demonstrated in the 20-week fetus but not in the 34-week fetus. They appear to constitute two different conditions. These cases are good examples of the possibilities brought by ultrasound to the analysis of the fetal phenotype in utero.

Humans↗
PubMed1985

Visualization of the fetal genitalia by ultrasonography: a review of the literature and analysis of its accuracy and ethical implications.

The results of the ultrasonographic determination of fetal gender in utero in 722 fetuses (13-35 weeks' gestation) are described, demonstrating that fetal genitalia can be seen in 60.5 per cent of those examined before the eighteenth week, and in 100 per cent of those examined twice or once after 20 weeks of gestation. All errors (3.04 per cent) of gender assignment occurred before the twenty-fourth week. When the fetus was examined for the first time at 17 weeks, the genitalia were visualized and correctly diagnosed in 282 males and 155 females; nine males and 13 females were incorrectly diagnosed. Ultrasonographic determination of fetal gender in utero is an integral part of the prenatal diagnosis of sex maldefinition, testicular feminization, and campomelic dysplasia. It has proved to be a reliable marker in determining whether each sac has been sampled in multiple pregnancies (when each fetus is in a different sac) if ultrasonographically assigned sex per twin corresponds to its karyotype. The determination of fetal gender in utero by ultrasonography allows for gender selection; some of its ethical implications are considered.

Diagnostic Errors↗
PubMed1985

Ultrasonographic visualization of the fetal eye.

This paper describes the analysis of the fetal eye in utero using ultrasonography. Such analysis has allowed the diagnosis of two cases of cyclopia and one case of microphthalmia. Two of the three pregnancies of a woman affected by autosomal dominant aniridia were found to be normal at 17 weeks of gestation and at birth; her oldest daughter was affected. The motility of the eyes was also noted when the fetus was examined. No movement or rapid and slow movements are seen more frequently as the fetus progresses through pregnancy. The centiles for the intermalar and interethmoidal distances are described for fetuses between weeks 10 and 40 of gestation. This system should be used with caution because of the difficulties in interpreting views of the fetal eye.

Eye Abnormalities↗
PubMed1984

Tandem dup (1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies.

A newborn infant was found to have multiple congenital anomalies including bilateral cleft of lip and palate, intrauterine growth retardation, microcephaly, tetralogy of Fallot, ambiguous external genitalia, and presence of male and female internal genitalia. Chromosome analysis showed a tandem duplication of part of the short arm of chromosome 1, resulting in a dup(1p31----35). The karyotype designation is 46,XY,dir dup(pter----31::p35----p31::p31----qter). The exact nature of the chromosome anomaly was clarified with use of several banding methods.

Abnormalities, Multiple↗
PubMed1984

Manifestations of pseudoxanthoma elasticum during pregnancy: a case report and review of the literature.

A 30-year-old white woman with pseudoxanthoma elasticum (PXE) was followed throughout her pregnancy with several fetal ultrasonographic examinations and other diagnostic studies; these showed normal development up to the 26th wk and then a marked deceleration of fetal growth. The ultrasonographic appearance of the placenta was abnormal at all times probably related to the microscopic changes. The baby, born at 36 wk, showed severe intrauterine growth retardation as a probable consequence of the abnormal placenta detected by ultrasound and corroborated at birth. The cotyledons were small and more numerous than normal. One third of the placenta was hypoplastic or atrophic, with focal calcification in septa, stroma, villi, and decidua, and increased deposition of fibrin around villi. The most striking change was the increased number of septa and the abnormal elastic tissue.

Adult↗
PubMed1984

Visualization of the fetal face by ultrasound.

A technique for detailed examination of the fetal face by ultrasound in utero is described. It is based on the systematic visualization of the facial structures in four planes--sagittal, coronal, transverse, and oblique--and on the detailed view of other facial structures. Its use has allowed the identification of normal facies in many of the 800 cases included in this study and also the identification of the abnormal facial characteristics of triploidy, cyclopia, anencephaly, Seckel syndrome, trisomy 18, and nuchal cysts syndrome.

Anencephaly↗
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↗
PubMed1981

H-Y antigen expression in a case of mixed gonadal dysgenesis.

H-Y antigen expression was studied on leukocytes and gonad-derived fibroblasts from a patient affected by mixed gonadal dysgenesis. Blood leukocytes and fibroblasts derived from the testis were typed H-Y positive, but the fibroblasts derived from the streak gonad were H-Y negative. Although the patient's karyotype was a mosaic, 45,XO/46,X+mar, as detected in-peripheral blood cells and testis-derived fibroblasts, all the fibroblasts derived from the streak gonad were 45,XO. These data suggests that the marker chromosome was in fact a Y-derived chromosome. Moreover, they showed that, at the gonadal level, a minority of H-Y positive 46,X+mar cells were able to organize a testis. Nevertheless, a large number of XO cells probably did not receive the testicular forming influence of the H-Y antigen and of the other masculinizing factors.

Cells, Cultured↗
PubMed1979

Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease.

We describe a syndrome identified in three consanguineous families who had two and probably four common ancestors five generations ago. The syndrome is characterized by profound dysfunction of the central nervous system, silver-leaden colored hair, abnormal melanosomes and melanocytes, and abnormal inclusion bodies in fibroblasts, bone marrow histiocytes and lymphocytes which appear to represent abnormal lysosomal bodies. Because of the biochemical relationships between melanin-melanosomes and neuromelanin, we think that all the manifestations of the condition are related to and represent pleiotropic effects of a newly identified gene in man in its homozygous state. Biochemical reactions of the cells of these patients indicate presence of tyrosinase in the melanosomes.and show that the substance accumulated in cultured fibroblasts and in the bone marrow histiocytes is a PAS and Oil-red-O positive material but is Oil-red-O negative after extraction; it has the typical reactions of melanin withe the Masson and Fontana stain, but cannot be considered typical melanin, since without stain it is colorless. The ultrastructural studies showed round granules with variable matrix, similar in fibroblast and bone marrow, and with variable intensity of reaction to osmium. This mutation principally affects the neuroectoderm, but also the mesoderm.

Child, Preschool↗
PubMed1979

Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome".

Seven patients (4 females, and 3 males) born in unrelated families, one of them consanguineous (first cousins), were affected by peculiar facies and gestures while smiling and crying, and by hydronephrosis, hydroureter and intravesical stenosis of the ureter, abnormal caliber of the urether in the prostatic and membranous portions, urethral valves, abnormal bladder with trabeculation, and diverticula associated with severe hypertrophy of the mucosa with sclerotic changes. The genetic analysis of these families indicates that the condition is probably autosomal dominant, with variable expressivity and incomplete penetrance. The syndrome represents alteration of facial and urinary developmental fields. The peculiar facies allows early recognition of the condition, and this can be helpful for early assessment and treatment, leading perhaps to a better prognosis.

Adolescent↗