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Results for “DEFECTS, CONGENITAL”

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At least 73 records · Page 4Linked to original sources
PubMed1986

[Primary management of newborn infants with respiratory failure due to a congenital defect of the diaphragm].

The authors report on 36 premature and term infants with congenital defects of the diaphragm, including 17 patients who developed a severe respiratory insufficiency either immediately after birth or during the first 30 minutes of life. The overall mortality rate was 64%; the results of treatment were marked by a particularly high mortality rate among the patients with early respiratory insufficiency: out of 17 patients, 12 died. The evaluation of the courses confirmed that adequate preoperative primary care is of major prognostic importance in patients with early respiratory insufficiency. On the basis of personal experience the authors have formulated the following recommendations for improving diagnosis and therapy at this stage of care: greater use of sonography examination methods for antepartal diagnosis of congenital defects of the diaphragm, making it possible to treat the corresponding high-risk pregnancies at an early stage in clinics equipped for neonatologic and pediatric surgical treatment; early intubation respiration with a ventilation technique which does not overstrain the patient, in newborns with abnormal respiration and suspected congenital defects of the diaphragm; the great diagnostic importance of plain radiographs of the thorax and abdomen; neonatologic and intensive medical stabilization treatment in patients with severely suppressed metabolism prior to the anesthesiologic and surgical stress of closure of the diaphragm defect.

Critical Care↗
PubMed1996

Homocysteine induces congenital defects of the heart and neural tube: effect of folic acid.

The biological basis or mechanism whereby folate supplementation protects against heart and neural tube defect is unknown. It has been hypothesized that the amino acid homocysteine may be the teratogenic agent, since serum homocysteine increases in folate depletion; however, this hypothesis has not been tested. In this study, avian embryos were treated directly with D,L-homocysteine or with L-homocysteine thiolactone, and a dose response was established. Of embryos treated with 50 microliters of the teratogenic dose (200 mM D,L-homocysteine or 100 mM L-homocysteine thiolactone) on incubation days 0, 1, and 2 and harvested at 53 h (stage 14), 27% showed neural tube defects. To determine the effect of the teratogenic dose on the process of heart septation, embryos were treated during incubation days 2, 3, and 4; then they were harvested at day 9 following the completion of septation. Of surviving embryos, 23% showed ventricular septal defects, and 11% showed neural tube defects. A high percentage of the day 9 embryos also showed a ventral closure defect. The teratogenic dose was shown to raise serum homocysteine to over 150 nmol/ml, compared with a normal level of about 10 nmol/ml. Folate supplementation kept the rise in serum homocysteine to approximately 45 nmol/ml, and prevented the teratogenic effect. These results support the hypothesis that homocysteine per se causes dysmorphogenesis of the heart and neural tube, as well as of the ventral wall.

Animals↗
PubMed1985

Equine congenital defects.

In a 13-year survey of equine congenital defects that resulted in death or required euthanasia in central Kentucky, necropsies were performed on 608 deformed fetuses or newborn foals. The following congenital anomalies were observed: contracted foal syndrome (33.2%), miscellaneous limb contraction (20%), multiple defects (5.3%), microphthalmia (4.6%), craniofacial malformations (4.3%), cleft palate (4.0%), heart defects (3.5%), umbilical defects (3.5%), and hydrocephalus (3.0%). Eleven less frequently occurring anomalies constituted the balance of the congenital defects in fetuses and newborn foals.

Abnormalities, Multiple↗
PubMed2004

[Primary prevention of congenital defects].

Chile has experienced advances in the primary prevention of congenital defects. This article review separately the pre-conception and pre-natal prevention. The first avoids the production of a defective embryo and the latter avoids the effects of external agents, such as environmental teratogens, over a normaly conceived embryo. The preventive measures include education about the use of medications, lifestyles, alcohol and drug use and prenatal control of pregnant women. Special mention deserves nation wide programs held by the ministry of Health such as mandatory rubella vaccination, flour folic acid fortification and metabolic screening of phenylketonuria and congenital hypothyroidism. The role of the main chemical, physical and infectious teratogens is reviewed. A Decalogue of recommendations for primary prevention, elaborated by the Latin American Collaborative Study for Congenital Defects, is included.

Abnormalities, Drug-Induced↗
PubMed2000

Pathogenetic classification of a series of 27,145 consecutive infants with congenital defects.

We studied a series of 27,145 consecutive infants with congenital defects and classified them into the currently recognized pathogenetic types of errors of morphogenesis, as defined by the International Working Group [Spranger et al., 1982: J Pediatrics 1:160-165]. Of all infants with congenital defects, 97.94% had malformations, 3.92% deformations, and 1.65% disruptions. Malformations associated with deformations were present in 3.12% of children with congenital anomalies, malformations with disruptions in 0.18%, deformations with disruptions in 0.07%, and malformations with deformations and disruptions in 0.14%. While deformations, including deformation sequences, were 2.38 times more common than disruptions and disruption sequences, isolated disruptions (1.27%) were more frequent than isolated deformations (0.59%). Knowledge of the frequencies of the different types of errors of morphogenesis (malformations, deformations, disruptions, developmental field defects, associations, complexes, unrecognized patterns of multiple congenital anomaly, and syndromes) may be of great value in the evaluation of patients with congenital anomalies.

Congenital Abnormalities↗