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 631 records · Page 35Linked to original sources
PubMed1992

Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients.

The gene for steroid 18-hydroxylase (P-450C18) has been recently assigned to encode corticosterone methyl oxidases Type I and Type II which were previously postulated to catalyze the final two steps in the biosynthesis of aldosterone in humans. Molecular genetic analysis of the P-450C18 gene is three patients from three different families affected with CMO II deficiency has indicated that a point mutation of CGG----TGG (181Arg----Trp) in exon 3 and one of GTG----GCG (386Val----Ala) in exon 7 occur exclusively in the gene of the patients. Analysis of PCR products by restriction enzymes (HapII and HphI) has indicated that the patients are homozygous and the unaffected parent is heterozygous for both mutations, in accordance with the established concept that CMO II deficiency is inherited in an autosomal recessive manner. These data clearly provide the molecular genetic basis for the characteristic biochemical phenotype of CMO II clinical variants.

Aldosterone↗
PubMed1990

Genotoxic potency in mouse spermatogonial stem cells of triethylenemelamine, mitomycin C, ethylnitrosourea, procarbazine, and propyl methanesulfonate as measured by F1 congenital defects.

Male ICR mice were intraperitoneally injected with TEM, MMC, ENU, PCZ, or PMS and mated to untreated females of the same strain on days 64-80 after the treatment. Copulations during this period involve sperm that were spermatogonial stem cells at the time of the treatment. The fetuses were examined on day 18 of pregnancy for external and skeletal abnormalities. The 5 mutagens tested all caused significant increases in the incidence of abnormal fetuses over the control level. The genotoxically effective dose, in mmole/kg, for producing fetal abnormalities with a frequency of 2% was estimated to be 0.007 for TEM and MMC, 0.6 for ENU, 1.8 for PCZ, and 3.0 for PMS. These values correlate well with the mutagenic potency estimated from the data reported for inducing specific-locus mutations in spermatogonial stem cells. Irrespective of the kind of mutagen used, external abnormalities represented by cleft palate and dwarfism occurred more frequently than skeletal abnormalities represented by rib malformations. It is concluded from these data that F1 fetal abnormalities can serve as sensitive indicators for quantitatively assessing the genotoxicity of a chemical agent in spermatogonial stem cells.

Abnormalities, Drug-Induced↗
PubMed1994

Congenital defects, abortion and other health effects in nickel refinery workers.

Health impairment was investigated by a thorough clinical investigation in a cross-sectional study of 821 male and 758 female workers in a nickel hydrometallurgy refining plant. The average nickel exposure levels were found to be around 0.2 mg/m3 in the electrolysis department and 0.13 mg/m3 in the electrolyte purification department. Corresponding average urinary values for nickel were 16 micrograms/l and 10 micrograms/l, respectively. The most common types of health impairment found were respiratory, skin and cardiovascular diseases. Health impairments, except for respiratory diseases, were found more often in females than in males. The design of the study does not allow comparison with a non-exposed population. Even if there are serious limitations in the statistical and sampling details of the pregnancies and new-born babies, the results suggest adverse health effects at usually accepted exposure levels to nickel. Normal pregnancies were reported in 29% of 356 pregnant nickel workers compared with 39% in 342 local construction workers. Spontaneous and threatening abortions were reported in 16% and 17% of all pregnancies in nickel-exposed workers, compared with 9% and 8%, respectively in the construction workers. Structural malformations were found in about 17% of alive-born infants with nickel-exposed mothers, compared with about 6% in the reference group. Significant increased risks of 2.9, 6.1 and 1.9 for total defects, cardiovascular defects and defects of the musculoskeletal system, respectively, were demonstrated.

Abnormalities, Drug-Induced↗
PubMed1990

Multiple congenital defects in a female calf: a case report.

This case report describes a female calf with arthogryposis, an extra set of incision teeth, ventral abdominal hernia, tibial hemimelia and the nonunion of mullerian ducts. This is possibly the first occurrence of these anomalies in one animal. The cause of these anomalies may have been genetic in origin due to the close relationship between the dam and the sire and the negative history for such various tetragenic factors.

Journal Article↗
PubMed1976

Calcium oxalate stone disease: congenital defect of metabolism?

Kidney tissue enzyme patterns from patients with calcium oxalate stone disease were compared to enzyme patterns from healthy and inflamed human kidneys. In the case of oxalate stone disease there was a significantly decreased activity of the glycolytic enzyme aldolase, resulting in a cumulation of oxaloacetate and of oxalic acid. This decrease of the aldolase activity does not completely reveal the cause of calcium oxalate stones but provides a new aspect to the disease.

Calcium↗
PubMed1999

Evaluation of platelet function with the PFA-100 system in patients with congenital defects of platelet secretion.

The template bleeding time is still the screening test for defects of platelet function, although it is an invasive and poorly reproducible technique. The PFA-100 measures platelet function at high shear. Whole blood is aspirated through a capillary to an aperture of a membrane coated with platelet agonists. The system measures the time required to obtain occlusion of the aperture by a platelet plug (closure time). We measured the closure times in the PFA-100 system and the bleeding time in seven patients with delta-storage pool deficiency, 10 patients with "primary secretion defect" (not due to abnormalities of platelet granules or the arachidonate pathway), and 40 controls. Measurements were repeated I and 4 hours after intravenous infusion of desmopressin in six delta-storage pool deficiency and eight primary secretion defect patients. Baseline bleeding time and closure times with the collagen/epinephrine cartridge were longer in delta-storage pool deficiency and primary secretion defect patients than in controls. In contrast, closure times with the collagen/adenosine diphosphate cartridge were normal in both delta-storage pool deficiency and primary secretion defect patients. Treatment with desmopressin increased the plasma von Willebrand Factor levels, shortened the prolonged bleeding time, shortened the closure times with the collagen/adenosine diphosphate cartridge, and normalized the closure times with the collagen/ epinephrine cartridge. Therefore, the PFA-100 test may be a less invasive alternative to the bleeding time in the diagnosis and therapeutic monitoring of patients with platelet secretion defects. The collagen/epinephrine cartridge is more sensitive than the collagen/adenosine diphosphate cartridge to defects of platelet secretion.

Adult↗