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Biomedical subjects

G Moscoso

Publications and source records attributed to G Moscoso.

At least 37 records · Page 2Linked to original sources
PubMed1998

The cobweb syndrome: first trimester sonographic diagnosis of multiple amniotic bands confirmed by fetoscopy and pathological examination.

Amniotic band syndrome is a well described clinical entity presenting with deformities of the limbs, thorax, craniofacial skeleton, soft tissues and umbilical cord, but it still lacks a precise definition and a coherent hypothesis for its pathogenesis. We report on a case of first trimester diagnosis of amniotic band syndrome by sonography and fetoscopy. This revealed multiple abnormalities including facial cleft, brain and limb deformities; the appearance of the amniotic cavity was that of a cobweb containing the fetus. Post-mortem examination and histopathological studies confirmed the diagnosis of amniotic band syndrome. These results may enhance the knowledge of its natural course. In addition, based on histological and newly identified ultrastructural features, we present a hypothesis which could help to explain the aetiopathogenesis of the amniotic band syndrome.

Adult↗
PubMed1998

Cerebellar hypoplasia, facial dysmorphism and internal abnormalities: a new recessive syndrome?

Three female sibs had cerebellar hypoplasia, facial dysmorphism comprising a high forehead, lowset posteriorly rotated ears, a prominent upper lip and receding chin, and variable internal abnormalities. Two of the cases had deficient lobulation of the lungs, two had an atrial septal defect of the heart and developmental abnormalities of the urinary system or internal genitalia, one had holoprosencephaly. All had normal chromosomes. This syndrome does not seem to have been reported before and may be inherited in an autosomal recessive manner.

Abnormalities, Multiple↗
PubMed1997

Molecular cloning of human GATA-6 DNA binding protein: high levels of expression in heart and gut.

Human GATA-6 has been cloned from foetal heart by a combination of PCR-based methods and cDNA library screening. The 3.8 kbp cDNA has a coding sequence of 1347 bp the 449 aa protein is virtually identical in the two zinc-finger binding domains to other human GATA sequences, but varies considerably in the amino and carboxy terminal regions. The sequence shows greatest similarity to GATA-6-like sequences from rat, mouse, chicken and Xenopus. Northern analysis and in situ hybridisation show that GATA-6 is expressed at high levels in human adult and foetal heart as well as in gut derivatives. It is postulated that GATA-6, in concert with GATA-4, plays a crucial role in the regulation of cardiac differentiation.

Amino Acid Sequence↗
PubMed1997

Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses.

Pathological examination of the heart and great arteries was performed in 112 chromosomally abnormal fetuses after surgical termination of pregnancy at 11-16 weeks of gestation. The chromosomal abnormalities were diagnosed by chorion villus sampling which was carried out because screening of the pregnancies by a combination of maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation identified them as being at increased risk. The group consisted of 60 fetuses with trisomy 21, 29 with trisomy 18, 17 with trisomy 13 and 6 with Ullrich-Turner syndrome. The most common cardiac lesion seen in trisomy 21 fetuses was an atrioventricular or ventricular septal defect. Trisomy 18 was associated with ventricular septal defects and/or polyvalvular abnormalities. In trisomy 13, there were atrioventricular or ventricular septal defects, valvular abnormalities, and either narrowing of the isthmus or truncus arteriosus. Ullrich-Turner syndrome was associated with severe narrowing of the whole aortic arch. In all four groups of chromosomally abnormal fetuses, the aortic isthmus was significantly narrower than in normal fetuses and the degree of narrowing was significantly greater in fetuses with high nuchal translucency thickness. It is postulated that narrowing of the aortic isthmus may be the basis of increased nuchal translucency thickness in all four chromosomal abnormalities.

Abnormalities, Multiple↗
PubMed1997

Diagnostic embryoscopy and fetoscopy in the first trimester of pregnancy.

Embryoscopy is the examination of the embryo at 9-10 weeks' gestation through the intact membranes by introducing an endoscope into the exocoelomic space transcervically or transabdominally. This is likely to remain confined to the management of early pregnancy in selected families affected by recurrent genetic syndromes with recognizable external fetal abnormalities. The procedure-related risk of fetal loss is around 12 per cent. Fetoscopy is the examination of the fetus after 11 weeks' gestation. This is performed transabdominally in the amniotic fluid. The technique has evolved with the miniaturization of the optical device by using fibre-optics technology. This procedure is likely to find new applications with the development of ultrasound examination at 10-14 weeks' gestation in order to, either confirm, or rule out suspected external fetal abnormalities. Amniocentesis can be performed at the same time. The procedure-related risk is likely to remain below 10 per cent but no accurate figures can be drawn from the literature.

Amniocentesis↗
PubMed1996

Abnormalities of the heart and great arteries in chromosomally normal fetuses with increased nuchal translucency thickness at 11-13 weeks of gestation.

Pathological examination of trisomic fetuses with increased nuchal translucency thickness at 11-13 weeks of gestation demonstrated a high prevalence of cardiac defects and abnormalities of the great arteries. This study reports the pathological findings observed from the examination of the heart and great arteries of 21 chromosomally normal fetuses with increased nuchal translucency. In 19 of the 21 cases there were abnormalities; the commonest was narrowing of the aorta at the level of the isthmus and immediately above the aortic valve. This finding is different from that in case of trisomy 21, where narrowing of the isthmus is associated with an increased diameter of the aortic valve. These findings suggest that abnormalities of the heart and great arteries may be implicated in the pathogenesis of increased nuchal translucency not only in trisomic fetuses but also in chromosomally normal fetuses. It can be implied that increased nuchal translucency thickness at 10-14 weeks of gestation may prove to be a useful marker for the identification of fetal cardiac abnormalities.

Coronary Vessel Anomalies↗
PubMed1996

Neural cell adhesion molecule (NCAM) expression in nerves and muscle of developing human large bowel.

Most studies of neural cell adhesion molecule (NCAM) in human musculature are devoted to either developing or adult skeletal and cardiac muscle. The aim of this study was to determine the pattern of NCAM expression in the intestinal musculature of the developing human large bowel. In specimens of large bowel from foetuses (gestational age 8-20 weeks), we examined the immunohistochemical localisation of NCAM in parallel to those of alpha-smooth muscle actin and desmin. Within the developing neural complex, NCAM was expressed at all stages investigated. In intestinal muscle at 8 weeks, immunoreactivity for all antisera was restricted to the muscularis propria. The differentiating muscularis mucosae was demonstrated first at 15 weeks by immunostaining for alpha-smooth muscle actin, and this expression was followed by that of NCAM and desmin at 17 and 19 weeks, respectively. At 20 weeks, NCAM immunoreactivity in the external muscle was intense at the inner border of the circular muscle, with its concentration decreasing towards the outer margin of the muscular wall, whereas alpha-smooth muscle actin and desmin were uniformly distributed in all muscle layers. NCAM is expressed by nerves and muscle of developing human large intestine. Its appearance follows a predetermined pattern, which implies its relevance to the differentiation of intestinal muscle layers.

Actins↗
PubMed1995

Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome.

Routine ultrasound examination at 11 weeks of gestation in a woman with no family history of genetic disease demonstrated increased accumulation of fluid in the fetal nuchal region. In view of the association of this defect with chromosomal abnormalities, fetal karyotyping was performed by chorion villus sampling and this demonstrated a normal 46,XY karyotype. Subsequent scans showed resolution of the nuchal fluid, and at the 20-week scan the fetal genitalia appeared to be female. Fetal blood sampling confirmed a normal male karyotype and fetoscopy confirmed the presence of female external genitalia. The parents elected to terminate the pregnancy, and postmortem findings were indicative of Smith-Lemli-Opitz syndrome. This was confirmed by the finding of increased levels of 7-dehydrocholesterol in cultured skin fibroblasts.

Adult↗
PubMed1995

First-trimester nuchal translucency and cardiac septal defects in fetuses with trisomy 21.

OBJECTIVE: Our purpose was to determine the incidence of cardiac septal defects in fetuses with trisomy 21 diagnosed by increased nuchal translucency thickness at 10 to 13 weeks' gestation. STUDY DESIGN: Pathologic examination of the fetal heart was performed in 36 fetuses with trisomy 21 after suction termination of pregnancy at 12 to 15 weeks' gestation. The diagnosis of trisomy 21 was made by chorion villus sampling because of increased (> or = 3 mm) fetal nuchal translucency thickness detected at routine first-trimester ultrasonographic examination. RESULTS: Perimembranous ventricular and atrioventricular septal defects were detected in 20 of 36 fetal hearts. A septal defect was observed in 1 of the 11 fetuses with nuchal translucency thickness of 3 mm and in 19 of the 25 with translucency > or = 4 mm (p < 0.001). CONCLUSION: The incidence of ventricular and atrioventricular septal defects is much higher in fetuses with trisomy 21 and increased nuchal translucency thickness at 10 to 13 weeks' gestation than in live-born infants with this chromosomal abnormality. The incidence of cardiac septal defects increases with nuchal translucency thickness.

Chorionic Villi Sampling↗
PubMed1995

Morphometric analysis of the great vessels in early fetal life.

Pathological examination of the heart and great vessels was performed in 61 specimens obtained after surgical termination of pregnancy for psychosocial indications at 9-18 weeks of gestation. The aorta and pulmonary trunk were identified and external diameters were measured at the level of, and distal to the aortic valve and pulmonary valve, the level of the aortic isthmus and thoracic aorta, and the proximal and distal ductus arteriosus. All eight vessel diameters increased linearly with gestational age and the ratio of the diameter of the aortic isthmus to that of the aortic valve or the distal ductus arteriosus also increased with gestation. Early pregnancy is characterized by rapid growth of the fetal head and this may well be the consequence of a preferential distribution of left ventricular output in favour of the head due to relative narrowing of the aortic isthmus at this gestation.

Adult↗
PubMed1995

Increased nuchal translucency in trisomy 21 fetuses: relationship to narrowing of the aortic isthmus.

Pathological examination of the great vessels was performed in 34 trisomy 21 fetuses after surgical termination of pregnancy at 11-16 weeks of gestation. In each case, the external diameters of eight segments of the great vessels were measured. The aortic valve and the ascending aorta were wider than in normal fetuses, whilst the aortic isthmus was narrower. The degree of narrowing of the isthmus was significantly greater in fetuses with high nuchal translucency thickness and it is possible that there is a causal association between the two.

Aorta↗
PubMed1993

Neuropeptides and a neuronal marker in cutaneous innervation during human foetal development.

There is evidence that foetal body movements first occur at 6 weeks gestation, and that the reflex arc is functional at 8 weeks. This correlates with the detection of the sensory neuropeptides calcitonin gene-related peptide (CGRP) and substance P (SP) in spinal cord at 10 weeks gestation. However, the development of cutaneous neuropeptide-containing nerves is not well documented in humans. We have investigated the early appearance and distribution pattern of CGRP, SP, vasoactive intestinal peptide (VIP) and neuropeptide Y (NPY), as well as those of the general neuronal marker protein gene product 9.5 (PGP) in various areas of foetal skin at different gestational ages. PGP-immunoreactive nerves were first seen in the subepidermal plexus at 6 weeks gestational age. Initially, the immunoreactive nerves are thick, club-shaped and distributed in the superficial dermis. Beaded adult-like fibres become more numerous only at later ages (10-12 weeks), and extend from this plexus to penetrate the epidermis. Histologically, the skin of the hand develops faster than that of other body areas and at 9 weeks, more PGP-immunoreactive nerves were seen in the palm than in the dorsum. Primitive sweat glands were first noted in axillary skin at 17 weeks, accompanied by a few PGP-immunoreactive nerves. Occasional, small CGRP-immunoreactive fibres were first noticed in the dermis at 7 weeks, but it was at 17 weeks that the presence of this neuropeptide was unequivocal in the subepidermal plexus. Sparse VIP-, SP- and NPY-immunoreactive fibres were not found until 16-17 weeks gestation, when they were seen in the dermis and around small blood vessels.(ABSTRACT TRUNCATED AT 250 WORDS)

Biomarkers↗
PubMed1993

Expression of the human neuropeptide tyrosine Y1 receptor.

Neuropeptide tyrosine (NPY) is the predominant peptide in the innervation of many human tissues and is considered to play a role in the regulation of blood flow, gastrointestinal secretion and motility, and renal function. Three NPY receptors have been identified (Y1, Y2, and Y3) and the cDNAs encoding the human Y1 and bovine Y3 receptors have recently been cloned. We have demonstrated the expression of the Y1 receptor subtype in several fetal and adult human tissues, including the colon, kidney, adrenal gland, heart, and placenta. A single transcript was identified (approximately 2.2 kb) and localized in tissue sections by in situ hybridization. In the colon the receptor is expressed in the mucosa and basal glands, as well as the myenteric and submucous plexuses. Y1 receptor mRNA was detected in renal collecting ducts, loop of Henle, and juxtaglomerular apparatus and in the syncytiotrophoblast layer of placental villi. Fetal aorta and adult intramyocardial, colonic, and renal blood vessels also exhibited receptor expression, localized to the intima as well as the media. The distribution of Y1 receptor expression correlates with that of NPY-immunoreactive nerves and the apparent actions of NPY in the intestine, kidney, and heart. Although the placenta is devoid of nerves, an NPY-like transcript was detected in the villous trophoblast layer. The results indicate a tissue-specific regulation of NPY Y1 receptor expression.

Adult↗
PubMed1993

Fetal antigen 1 (FA1) in the human pancreas: cell type expression, topological and quantitative variations during development.

Monospecific rabbit anti-human fetal antigen 1 (FA1), was used to examine the distribution of FA1 during the development of the human fetal pancreas and liver using an indirect immunoperoxidase technique. FA1 was expressed by 94% of the glandular epithelial cells of the branching ducts in the pancreatic anlage at week 7 of gestation. This pattern changed during the development of the human pancreas, 64% of the glandular cells being FA1 positive at week 17 of gestation, decreasing to 11% in the infant (4 months after birth). In the infant and adults the FA1 expression was restricted to a subpopulation of beta-cells within the islets of Langerhans. Insulin immunoreactive cells were scattered throughout the epithelium of primitive branching pancreatic ducts at week 7 of gestation, well before the formation of islets. From the 7th through to the 17th week of gestation, FA1 was found in the cytoplasm of fetal hepatocytes, whereas no staining was observed in the liver from a 4-month-old infant. No FA1 expression was found in the epithelium of the developing gut. The present findings indicate that the glandular epithelial cells in the developing pancreas may serve as stem cells, which, if appropriately induced, may differentiate into endocrine cells. Fetal antigen 1 (FA1) may take part in or be a result of this differentiation.

Adult↗
PubMed1993

Parathyroid hormone related peptide gene expression in human fetal and adult heart.

OBJECTIVE: The aim was to investigate the expression of parathyroid hormone related peptide (PTHrP) gene in the human fetal and adult heart. METHODS: Molecular biological techniques were employed as well as immunocytochemistry and western blot analysis using rabbit polyclonal anti-PTHrP(1-34) and anti-PTHrP (56-86) on normal human fetal and adult heart tissues. Northern blot analysis of both normal human fetal and adult heart total RNA, using a human full length cDNA probe, and polymerase chain reaction analysis of normal human fetal and adult heart cDNAs with exon specific oligonucleotides were carried out. RESULTS: Positive staining was detected with both anti-PTHrP(1-34) and anti-PTHrP(56-86) in fetal heart at 12 weeks of gestation. In both fetal and adult hearts, multiple putative PTHrP proteins were observed with apparent molecular mass of 14-125 kDa. Multiple hybridising PTHrP mRNA isoforms (1.4, 2.1, 3.2, and 4.5 kb) were detected in both fetal and adult heart total RNAs. The fetal and adult heart cDNAs amplified from the cDNA libraries showed the presence of the 5' non-coding exon II and coding exons III-IV but not the 5' non-coding exon Ic. CONCLUSIONS: PTHrP is expressed in normal human fetal and adult hearts suggesting that it has a function as an endogenous modulator of the cardiovascular system.

Adult↗
PubMed1992

Endocardial localization and characterization of natriuretic peptide binding sites in human fetal and adult heart.

Specific, high affinity binding sites for 125I-human-alpha-atrial natriuretic peptide-(1-28)) (125I-hANP-(1-28)) were identified in human fetal and adult heart and the binding characterized using quantitative in vitro autoradiography. Binding sites were localized to atrial and ventricular endocardium, aorta, pulmonary arteries and epicardial mesothelium. Kinetic studies indicated a Kd value of 32 pM for ventricular endocardial 125I-hANP-(1-28) binding. The binding was completely inhibited by an excess (1 microM) of unlabelled hANP-(1-28), human brain natriuretic peptide-(1-32) (hBNP-(1-32)) and by the 'clearance receptor' specific ring-deleted analogue, C-ANP-(4-23). Competitive inhibition studies indicated a relative inhibitory potency for hBNP-(1-32) and C-ANP-(4-23) of 6% and 3% respectively. The data suggest that a distinct natriuretic peptide receptor subtype is expressed in the endocardium and in addition to a possible clearance function, may represent a site for feedback regulation and peptide interaction.

Analysis of Variance↗