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Biomedical subjects

B R Elejalde

Publications and source records attributed to B R Elejalde.

At least 19 recordsLinked to original sources
PubMed1990

Prospective study of amniocentesis performed between weeks 9 and 16 of gestation: its feasibility, risks, complications and use in early genetic prenatal diagnosis.

This paper demonstrates that the outcome of amniocenteses performed between the 9th and the 14th weeks is similar to that of amniocenteses performed between the 15th and 20th weeks. We have performed and prospectively followed 615 amniocenteses between the 9th and 16th weeks of gestation. The outcome, risks, and complications are similar to those of amniocenteses at the usual time (after 15 weeks) and to the other groups of early amniocentesis (before 15 weeks). Early amniocentesis differs from amniocentesis at the usual time in that it carries higher rates of fetal losses and of amniotic fluid leakage, more confined cytogenetic abnormalities, and an increased number of patients who have the procedure postponed. Two cultures (0.32%) failed to produce results, 595 (96.7%) samples were obtained at the first tapping, 20 (3.3%) at the second attempt. alpha-Fetoprotein levels reach their maximum at 13 weeks. Amniocenteses between 15 and 16 weeks (293, or 47%) constitute the control group, those between 9 and 14 weeks (322) the experimental group. Early amniocentesis appears to be a safe early genetic prenatal diagnosis technique, an alternative to chorionic villi sampling.

Amniocentesis↗
PubMed1986

The prenatal growth of the human body determined by the measurement of bones and organs by ultrasonography.

This paper presents the ultrasonographic analysis of the growth of two groups of human fetuses, one longitudinal and the other cross-sectional. Measurements of all the long bones were taken, as well as measurements of the following diameters: Biparietal, occipitofrontal, thoracic and abdominal anterior/posterior and transverse, spinal canal width, arm, forearm, thigh and leg transverse. The bladder and the stomach were also measured. The pregnancies analyzed covered the period between the 8th and 38th week of gestation. Centiles (3rd-97th) were calculated for each structure and week. All pregnancies known or suspected to be abnormal were removed from the study. The values obtained were tested in 102 pregnancies (test group); the expected values (from the graphs) did not deviate from the values obtained from this group of fetuses, demonstrating the reliability of the values presented in these graphs. All structures measured showed linear growth. There was no significant difference between the longitudinal and cross-sectional groups.

Adolescent↗
PubMed1986

Determination of cholinesterase and acetylcholinesterase in amniotic fluid. Uses in prenatal diagnosis and quality control.

The determination of acetylcholinesterase (AChE) has been shown to be as specific as alphafetoprotein (AFP) for the prenatal detection of open neural tube defects although AFP remains the method of choice. This paper describes a semi-automated technique for the analysis of acetylcholinesterase in amniotic fluid that: A) reduces the cost of the procedure; B) allows for a larger number of samples to be run at a time; and C) provides for more accurate and reproducible procedures and results. Six fetuses with neural tube defects (2 with gastroschisis and 3 where one twin was dead) were detected and found to have elevated AChE, TChE and 2 bands by electrophoresis. Quality control procedures using both pure enzyme and amniotic fluid with low and high levels of the enzyme are described. The analysis of 340 amniotic fluids of normal pregnancies indicates that the normal value for AChE is 5.17 +/- 2.63 mU/ml (97% confidence interval for the mean 4.84-5.49 mU/ml. A group of 27 abnormal pregnancies provides evidence that fetal vomiting and regurgitation, fetal demise, multiple cysts syndrome, idiopathic IUGR, arthrogryposis multiplex, hydrocephaly (stenosis of aqueductus), trisomy 21, trisomy 18, hydronephrosis, pyloric stenosis, heart malformation, ectopia cordis and multiple gestation produce elevated levels of pseudocholinesterase (PChE) in amniotic fluid. The use of pseudocholinesterase levels in amniotic fluid for prenatal diagnosis is proposed and discussed in view of its elevated levels in abnormal pregnancies where AChE is normal. The normal values for PChE are 23.86 mU/ml (mean) and 5.83 for standard deviation. Electrophoretic analysis was performed on all samples with values higher than one standard deviation above the mean.(ABSTRACT TRUNCATED AT 250 WORDS)

Acetylcholinesterase↗
PubMed1985

Analysis of the human fetal skeleton and organs with xeroradiography.

We have used xeroradiography to study normal and abnormal fetuses including some with anencephaly, hydrocephalus, spina bifida, osteogenesis imperfecta (type IV), Jeune syndrome, radial aplasia, thanatophoric dysplasia, and Pena-Shokeir syndrome. Xeroradiography images the lines of ossification and epiphyses in great detail, shows ossification, and reveals abnormalities that alter bone modeling as seen in Jeune syndrome, osteogenesis imperfecta (type IV), and thanatophoric dysplasia. This technique can be used successfully to examine soft tissues and organs. It can also be used in combination with contrast materials to identify the lateral ventricles, the cardiovascular, gastrointestinal, urinary, and respiratory systems, and the cavities (pleural and peritoneal) of the fetal body.

Abortion, Incomplete↗
PubMed1985

Nuchal cysts syndromes: etiology, pathogenesis, and prenatal diagnosis.

We examined 10 fetuses with nuchal cysts and compared the findings with 32 cases from the literature. Based on their characteristics, we propose that nuchal cysts are signs of four causally and pathogenetically different entities: cystic nuchal blebs present in otherwise normal fetuses as a postmortem change; 45,X fetuses who have a particular appearance and multiple congenital malformations; an apparently autosomal recessive syndrome of multiple cysts (that extend into deep muscular planes), generalized edema, cleft palate, peculiar skeletal characteristics, acutely angulated ribs (producing a bell-shaped rib cage), and shortened long bones; and in fetuses with syndromes that are inherited (multiple pterygium, Roberts) and chromosomal (trisomy 13, trisomy 21) as an unspecific sign representing both primary and secondary lesions.

Abnormalities, Multiple↗
PubMed1985

Prenatal diagnosis of Jeune syndrome.

We describe two sibs affected with Jeune syndrome. The first was diagnosed after birth and the second was diagnosed prenatally using ultrasonography. The detected abnormalities were confirmed by X-ray and autopsy following pregnancy termination. This observation indicates the possibility of prenatal diagnosis of the condition.

Adult↗
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↗
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↗
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↗