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PubMedDate not supplied

[Familial syndrome combining short small intestine, intestinal malrotation, pyloric hypertrophy and brain malformation. 3 anatomoclinical case reports].

Anatomoclinical study of 3 cases of an exceptional malformative condition characterized by: --extreme shortness of the small intestine, --mesenterium commune, --hypertrophic pylorus, --malformation of the central nervous system (heterotopia, absence of operculum temporale). Clinically this malformative condition is characterized by failure and inertia of the intestinal peristalsis producing at intervals of 10-15 days episodes of subocclusion, the repetition of which causes death. The syndrome is familial and seems to be of autosomal recessive inheritance. The absence of mechanical obstruction, the repeated failure of colostomy and ileostomy, the normal aspect of the myenteric plexuses verified by cytoenzymatic and silver stains allow to individualize this anatomoclinical syndrome and to rule out the hypothesis of Hirschsprung's disease, Chagas' disease, idiopathic megacolon or hypoplasia of the myenteric plexuses. The association of cerebral malformations leads to consider the responsibility of a lack of synthesis of a same specific intermediate factor which is up to now poorly determined, implicated in the neuronal migration and neuromuscular transmission.

Abnormalities, Multiple↗
PubMed1999

Isolated deficient alpha6beta4 integrin expression in the gut associated with intractable diarrhea.

BACKGROUND: An infant born with pyloric atresia had development of intractable diarrhea and was found to have total epithelial detachment of gastric and small and large bowel mucosa. She had no skin abnormalities. Parental consanguinity and pyloric atresia in a sibling who died without autopsy suggest an inherited origin for this disorder. The purpose of this study was to examine defects in intestinal and skin cell adhesion. METHODS: Histologic, immunohistochemical, and ultrastructural characteristics of the skin and gut of the patient were compared with that of normal control subjects. Distribution of adhesion molecules was determined. RESULTS: Immunofluorescent analysis of the digestive mucosa showed alpha6beta4 integrin expression deficiency at the epithelial cell-lamina propria junction. Ultrastructural examination of the digestive mucosa revealed a complete epithelial detachment with a cleavage plane lying between the lamina densa and the basal pole of the enterocytes. Consistent with the absence of skin blistering, integrin alpha6beta4 was expressed at the dermal-epidermal junction. Electron micrographs of skin biopsy specimens showed the presence of normal hemidesmosomes and the absence of dermal-epidermal dysadhesion. CONCLUSION: It was postulated that this patient had protracted diarrhea related to epithelial detachment of the digestive mucosa as a consequence of a deficiency of an integrin alpha6beta4 isoform specific to the gut.

Antigens, Surface↗
PubMed1997

Birth defects in infants conceived by intracytoplasmic sperm injection: an alternative interpretation.

OBJECTIVE: To test the hypothesis that liveborn infants conceived by intracytoplasmic sperm injection are at an increased risk of having a major birth defect. DESIGN: Reclassification of the birth defects reported in infants born after intracytoplasmic sperm injection in Belgium and comparison with prevalence estimated in Western Australian population by means of same classification system. SETTING AND SUBJECTS: 420 liveborn infants who were conceived after intracytoplasmic sperm injection in Belgium and 100,454 liveborn infants in Western Australia delivered during the same period. MAIN OUTCOME MEASURES: Estimates of birth prevalence of birth defects and comparisons of odds ratios between cohort conceived after intracytoplasmic sperm injection and Western Australian infants. RESULTS: Infants born after intracytoplasmic sperm injection were twice as likely as Western Australian infants to have a major birth defect (odds ratio 2.03 (95% confidence interval 1.40 to 2.93); P = 0.0002) and nearly 50% more likely to have a minor defect (1.49 (0.48 to 4.66); P = 0.49). Secondary data-led analyses, to be interpreted with caution, found an excess of major cardiovascular defects (odds ratio 3.99), genitourinary defects (1.33), and gastrointestinal defects (1.84), in particular cleft palate (5.11) and diaphragmatic hernia (7.73). CONCLUSIONS: These results do not confirm the apparently reassuring results published by the Belgian researchers of intracytoplasmic sperm injection. Further research is clearly required. Meanwhile, doctors practising intracytoplasmic sperm injection should bear this alternative interpretation in mind when they counsel couples and obtain informed consent for the procedure.

Adolescent↗
PubMed1998

Congenital malformations presenting during the neonatal period.

Discharge of the newborn within 24 to 48 hours after birth makes it more difficult to detect some congenital malformations and increases the need for careful examination and review of the history of the pregnancy, delivery, and nursery course. Progressive physiologic changes after birth, especially in the cardiovascular system, precede the development of signs indicative of disease for certain congenital malformations. Discharge before these changes occur may delay their detection because the newborn is not being monitored by medical or nursing caregivers. The AAP Committee on the Fetus and Newborn has published guidelines for criteria for safe discharge and follow-up evaluation to help create a safe situation for such early discharges. Some specific observations at birth may lead to earlier diagnosis. Careful attention to subtle differences between the initial and follow-up examination, such as a changing cardiac murmur or quality of pulses or abdominal fullness, may provide clues to the diagnosis of congenital malformations. Coordinated suck and swallow with successful feeding and passage of stool and urine within 24 hours after birth should occur before discharge. Reports of feeding difficulties should be reviewed. Although a thorough examination is facilitated by a sleeping infant, documentation of a normal pitched cry helps in the evaluation of the upper airway. Parents should be counseled about signs of illness that warrant medical attention, and early follow-up is needed to detect problems early enough to intervene effectively. In addition, although passage of a feeding tube through each nare and to the stomach with aspiration and measurement of gastric volume is not a routine procedure in the well, term newborn, this may be a useful early diagnostic tool in infants with signs or a maternal or nursery history suggestive of nasal or GI obstruction.

Cardiovascular Abnormalities↗
PubMed1972

Enteric duplications.

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Congenital Abnormalities↗
PubMed1992

Can maternal risk factors influence the presence of major birth defects in infants with Down syndrome?

Although the manifestations of Down syndrome (DS) are well known, certain major birth defects such as duodenal atresia and endocardial cushion defects are present in some infants but not others, suggesting the possible role of other genetic or environmental factors interacting with the trisomy genotype. To explore the possible role of maternal factors in the presence of major defects among DS infants, we examined data from an epidemiologic study of DS conducted in metropolitan Atlanta. Of 219 DS infants born between 1968 and 1980, 50 had recorded cardiac defects, 9 had selected gastrointestinal atresias and 4 had oral clefts. We evaluated the association of these defects with several maternal factors including age, race, first trimester cigarette smoking, alcohol use, and fever. We found that different maternal factors were associated with several defects: (1) mother's race with cardiac defects (40% in blacks vs. 17% in whites, P less than 0.01), (2) mother's age with oral clefts (6% for less than 25 years, 1% for 25-34, and 0% for greater than 34, P less than 0.05), and (3) maternal first trimester fever with gastrointestinal defects (15% in infants with history of fever and 3% in infants without a history of fever, P less than 0.01). We also observed an inverse relationship between maternal alcohol use and the presence of ventricular septal defect. These findings suggest that maternal risk factors may influence the clinical manifestations of DS. In addition to searching for a genetic basis for the DS phenotype, we suggest that the role of environmental factors and maternal exposures be specifically explored in clarifying the genesis of various birth defects in Down syndrome.

Alcohol Drinking↗
PubMed1991

Prenatal diagnosis of fetal anomalies during the second trimester of pregnancy: their characterization and delineation of defects in pregnancies at risk.

During a follow-up study of 19,790 pregnancies at risk for a genetic disease, from 1968 to 1989, 1083 fetuses were found to have an anomaly during the second trimester, leading to 977 terminations of pregnancy. Neural tube defects (31.4 per cent), chromosomal disorders (27.1 per cent), and Mendelian or multifactorial diseases (10.6 per cent) were the main causes of fetal anomaly. More than half (52.9 per cent) of the fetal anomalies were detected by routine ultrasound examination. Forty-two per cent of cystic hygromas were secondary to a chromosomal defect. We stress the importance of a comprehensive fetal and newborn examination to ensure an accurate diagnosis so that subsequently accurate counselling can be provided.

Abdominal Muscles↗
PubMed1965

[HALLUX VALGUS].

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Congenital Abnormalities↗
PubMed1993

Glucose utilization in the surgical newborn infant receiving total parenteral nutrition.

Glucose is the main source of nonprotein calories in total parenteral nutrition (TPN). However, its use has been associated with various nutritional, metabolic, and respiratory complications. The aim of this study was to determine, in the stable surgical newborn infant, the characteristics of carbohydrate metabolism, in particular the maximum oxidative threshold for intravenous glucose and the thermogenic effect of glucose. Twenty-one studies were done on 11 infants (weight 2.82 +/- 0.19 kg) receiving TPN containing constant amounts of amino acids (2.5 g/kg/d) and fat (3.0 g/kg/d), and different amounts of glucose (range, 10 to 25 g/kg/d). Oxygen consumption (VO2), carbon-dioxide production (VCO2), and resting energy expenditure (REE) were measured by indirect calorimetry. Urinary nitrogen excretion rate was measured and substrate utilization calculated from the nonprotein respiratory quotient (NPRQ). There was a positive correlation between the predictor variable glucose intake and the dependent variables VO2 (r = .55; P < .05), VCO2 (r = .83; P < .0001), REE (r = .65; P < .005), NPRQ (r = .94; P < .0001), respiratory rate (r = .46; P = .06), and plasma triglycerides level (r = .67; P < .01). When glucose intake exceeded 18 g/kg/d the NPRQ was greater than 1.0, indicating glucose conversion to fat. Above this level of intake, the gradient of the correlation between the predictor variable glucose intake and the dependent variables VCO2 and REE increased. From this study we conclude that: (1) Glucose intake is the principal determinant of glucose utilization and exerts an influence on the metabolism of exogenous fat.(ABSTRACT TRUNCATED AT 250 WORDS)

Calorimetry, Indirect↗
PubMed1991

Paediatric emergencies.

During the last decade neonatal surgical results have improved considerably. Except for infants born with serious congenital heart disease, diaphragmatic hernia or exomphalos, postoperative mortality rates for infants with single anomalies have fallen to the region of 10%. This dramatic success story has been marred by a corresponding increase in the number of individuals with several anomalies entering late childhood with severe chronic handicaps. During the remainder of this century much effort will be expended in devising programmes of investigation which will attempt to predict which individuals will have a poor long-term prognosis. Such programmes will necessitate very close liaison between obstetricians, radiologists, neonatologists, local paediatricians, paediatric surgeons, general practitioners and parents. Very urgent surgery is necessary for the best results in infants with gastroschisis, intestinal volvulus and irreducible inguinal hernia, but for most other conditions there have been recent trends away from very urgent surgery to operation during daylight hours within the ensuing 24 h. Surgery within a few hours of presentation is necessary for intussusception and for early acute appendicitis, but perforated appendicitis should be treated by aggressive fluid replacement and intravenous antibiotics and surgery should be contemplated only in the rare cases of continued deterioration.

Child↗
PubMed2006

Living donor liver transplantation for congenital absence of the portal vein in a child with cardiac failure.

Congenital absence of the portal vein (CAPV) requires liver transplantation when encephalopathy develops. However, transplantation has technical difficulties because no collateral circulation exists except for the portosystemic shunt. Ligating the shunt will cause disastrous mesenteric venous congestion. We report a 19-month-old female infant with CAPV, who had portosystemic encephalopathy and cardiac failure, and underwent living donor liver transplantation with a partial clamp technique using a vein graft. This is the first case of successful liver transplantation for CAPV with cardiac failure.

Cardiovascular Abnormalities↗
PubMed1983

The importance of an antenatal ultrasonographic diagnosis of correctable fetal malformations.

This study describes the importance of an early echographic examination during pregnancy for the antenatal diagnosis of fetal anomalies potentially correctable after birth. During a period of 18 months there were 28 cases. In seven fetuses a gastrointestinal malformation was diagnosed between 20 and 36 weeks of gestation; there were 16 cases of urogenital anomalies detected between 19 and 38 weeks of gestation, and five other various malformations were detected between 17 and 33 weeks of gestation (two diaphragmatic hernias, one congenital heart malformation, and two cases of benign tumors). This study suggests that ultrasonic antenatal diagnosis could result in a decrease in the morbidity of congenital malformations that are correctable if the delivery is carried out in a high-risk perinatal center.

Congenital Abnormalities↗
PubMed1979

Ultrasound in the diagnosis of congenital anomalies.

With high-resolution ultrasound equipment, it is now possible to diagnose certain fetal anomalies in the third trimester and in some cases before the twentieth week of gestation. During a 27 month period 2,548 ultrasound scans were performed in high-risk patients. An anomaly was diagnosed in 10 of 122 second-trimester patients who were at risk for recurrent fetal defects. Fetal deformity was also found in 26 third-trimester patients. Of the 2.8% of patients found to have polyhydramnios 18% were associated with various types of anomaly. With ultrasound it was possible to examine internal fetal anatomy and to identify abnormalities of the fetal cranium, spine, chest, abdomen, and limbs. These anomalies are reviewed here in detail. Based on ultrasonically derived information, second-trimester patients can be offered information concerning the status of their fetuses at risk genetically and physicians can better manage third-trimester patients with diagnosed fetal deformities.

Amniotic Fluid↗