PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “DEFECTS, CONGENITAL”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 343 records · Page 19Linked to original sources
PubMed1986

[Frequency of congenital defects in Spain: 1976-1983].

The Spanish Collaborative Study of Congenital Malformations (ECEMC) has analyzed 414,434 newborns in 45 hospitals in the last eight years (1976-1983). Amongst them 8,272 showed some birth defect detectable within the three first days of life (2%). A study on the incidence of birth defects classified according to their presentation in the newborn is carried out. We try to show importance of doing a careful clinical analysis of the cases in order to form groups as much homogeneous as possible from an etiopathogenic point of view. This is an essential requirement to approach with guarantees any epidemiological analysis. We also show the results of the epidemiological surveillance performed over 15 birth defects during the years 1981, 1982 and 1983.

Abnormalities, Multiple↗
PubMed2001

Drug-induced congenital defects: strategies to reduce the incidence.

Approximately 1% of congenital anomalies relate to pharmacological exposure and are. in theory, preventable. Prevention consists of controlled administration of drugs known to have teratogenic properties (e.g. retinoids, thalidomide). When possible, prevention could take the form of the use of alternative pharmacological therapies during the pre-conception period for certain specific pathologies, selecting the most appropriate agent for use during pregnancy [e.g. haloperidol or a tricyclic antidepressant instead of lithium; anticonvulsant drug monotherapy in place of multitherapy; propylthiouracil instead of thiamazole (methimazole)], and substitution with the most suitable therapy during pregnancy (e.g. insulin in place of oral antidiabetics; heparin in place of oral anticoagulants; alpha-methyldopa instead of ACE inhibitors). Another strategy is the administration of drugs during pregnancy taking into account the pharmacological effects in relation to the gestation period (e.g. avoidance of chemotherapy during the first trimester, avoidance of nonsteroidal anti-inflammatory drugs in the third trimester, and avoidance of high doses of benzodiazepines in the period imminent to prepartum).

Anti-Inflammatory Agents, Non-Steroidal↗
PubMedDate not supplied

[Congenital defects in the newborn--difficulties in prenatal diagnosis].

The aim of this work is an analysis of developmental defects in newborn infants, born in the Clinical Department of Pregnancy Pathology and Reproduction in Zabrze, during the 19 months of its existence. Difficulties in prenatal diagnosis of developmental defects are presented and their structure is discussed. The study included 1524 live born infants with birth weight over 500 g and 12 stillborn. In the live born group developmental defects were found in 71 (4.6%) infants. Among the 12 stillborn infants developmental defects were present in one child (8.3%). The most common developmental defects, in our material, were those of the skeletal system and heart defects. Prenatally, developmental defects were diagnosed in 8% of the examined foetuses. The quality of health care in pregnant mothers of the investigated newborn infants was assessed, with relation to medical examination, ultrasonographic scan and biochemical screening tests. In many cases, modern standards of management were not maintained.

Adult↗
PubMed1990

[Percutaneous pulmonary balloon dilatation in complex congenital defects].

Since several years percutaneous balloon dilatation has gained more and more importance as a method circumventing thoracotomy. Induced by the results in the international literature [1-14] we performed successfully percutaneous pulmonary balloon dilatations in 8 patients between June 1988 and March 1990. Three patients (aged 6.5 to 27 years) had an isolated, prevailing valvular pulmonary stenosis, while the five others had a complex congenital anomaly with valvular and subvalvular pulmonary stenosis. The paper reports the results of pulmonary balloon dilatations in the latter five patients.

Adolescent↗
PubMedDate not supplied

Diamond-Blackfan anemia: a congenital defect in erythropoiesis.

Diamond-Blackfan anemia (DBA) is a congenital pure red blood cell aplasia diagnosed in the first year of life. Familiarity is apparent in 10% of patients, with all other cases being sporadic. Physical abnormalities are present in at least one third of patients, pointing to a defect in early embryo development. The main clinical sign is profound isolated anemia, with normal numbers and functioning of the other hemopoietic cells. Reticulocyte counts are very low. Bone marrow reflects defective erythropoiesis, showing a very low number of erythropoietic precursors and a reduction of BFU-E progenitor cells. Proliferation and differentiation of the other lineages are normal. The very high erythropoietin (EPO) levels are usually not proportionate to the level of anemia and reflect relative EPO insensitivity, which is also apparent in vitro. Conversely, erythroid progenitors from DBA patients also show a defective or incomplete response to other erythropoietic growth factors, such as IL-3 or IL-6. A significant response has been observed in vitro to stem cell factor in many, but not all patients. Many patients respond clinically to corticosteroids and some develop hematologic remissions, both after corticosteroids and spontaneously. Patients who do not respond to corticosteroids and those who have to discontinue treatment because of side effects must rely on chronic transfusion and are thus exposed to all its complications. Bone marrow transplantation has been performed in some individuals, usually with a successful outcome. This suggests a normal marrow microenvironment and rules out the hypothesis of defective stromal cell function. The variable clinical and biological patterns may be the expression of multiple etiologies or represent variable expressivity of a single genetic defect. Only identification of the responsible gene(s) will solve this question. Growth factors exerting an effect on erythropoiesis (and relative receptors) or transacting proteins which regulate their expression are likely candidates in the hunt for a causal gene.

Animals↗
PubMedDate not supplied

[Use of a Gore-Tex patch in the primary repair of congenital defects of the anterior abdominal wall].

The surgical treatments for large omphaloceles and gastroschisis have to avoid a dangerous primary fascial closure when it's not feasible, so the pediatric surgeon can use staged surgical procedures that achieve a gradual increase in size of the abdominal cavity. Therefore, a staged approach is mandatory to avoid a complicated reduction and it's the best treatment for large congenital abdominal wall defects. Gore-Tex soft tissue is easy to handle, pliable, soft and well tolerated, so Gore-Tex patch closure is a safe and good alternative to staged repair in large omphaloceles and gastroschisis. The Authors report about five newborns with large congenital abdominal wall defects, in whom primary fascial closure could not be accomplished, so they were successfully treated by primary repair with Gore-Tex patch. The Authors also describe the surgical technique and they reconsider the last surgical techniques for large omphaloceles and gastroschisis.

Abdominal Muscles↗
PubMed1992

Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects.

We report on an infant girl with congenital erythematous, linear skin lesions on face and neck, bilateral microphthalmia, sclerocornea, cataracts, and a complex cardiac anomaly including atrial septal and ventricular septal defects. This patient had an Xp22.3 microdeletion and a chromosome satellite on the abnormal X p-arm. The abnormal X chromosome was late replicating in peripheral blood lymphocytes and cultured skin fibroblasts. Four other patients with similar congenital anomalies and Xp deficiency have been reported previously and are compared with this patient. One patient had an interstitial or terminal deletion, but in others the material translocated to Xp22.3 was variable (Yq material in two patients, and Yp material and an unidentifiable satellite in one patient each). Several mechanisms are suggested by which this chromosome abnormality might produce this phenotype in these patients. Our patient is the first with this syndrome to have a congenital heart defect.

Abnormalities, Multiple↗
PubMed1997

Animal models of congenital defects in the ventriculoarterial connection of the heart.

The embryonic heart functions as a pump without one-way valves. To accomplish this, a long, slowly conducting myocardial structure, the outflow tract, functions as a sphincter at the arterial pole of the heart. During subsequent development tissue remodeling in the outflow tract and immigrating cells of the neural crest are responsible for connecting the right ventricle with the pulmonary trunk and the left ventricle with the aorta, that is, for the developmental formation of the ventriculoarterial junction. Most congenital malformations of the ventriculoarterial junction stem from disturbances that result in developmental arrest or in abnormal pattern formation ("real" teratology). Abnormal pattern formation can in turn originate from problems with laterality or from aberrant or incomplete formation of structural elements. Genetically modified animals with well-defined gene deficiencies are beginning to provide insight in the signal-transduction pathways and structural elements that are responsible for normal development.

Animals↗
PubMed1990

[Adaptive structures of the venous bed of the heart in normal state and in congenital defects].

By means of a complex of anatomical, morphometrical and histological methods in 45 normally formed and in 179 abnormally developed hearts from persons of both sex died at various age, various links of the venous blood outflow from the myocardium have been investigated. Various parts, differing in a number of morphological signs, have been distinguished: coronary sinus, subepicardial veins, paired sinusoid veins, sinusoids of the myocardium and endocardial eversions. Regulation of their blood stream is performed by a system of simple muscular and infundibular valves, by intimal and muscular cushions, by connective tissue and muscular bridges. These adaptive structures occur in the normal heart also, but at congenital heart diseases, however, they reach an essentially greater development. Their localization is predominantly in the area of venular, vein, sinusoid bifurcations and endocardial eversions. Regular functioning of some parts of them is performed not by nonstriated, but by the cardiac muscular tissue. The coordinating work of the formation in question is one of the factors, that ensures the state of compensation in the defectively formed heart.

Adaptation, Physiological↗