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At least 613 records · Page 34Linked to original sources
PubMed1975

Congenital defects of the gastrointestinal tract and abdominal wall. A three-year review.

One hundred forty-four infants with anomalies of the gastrointestinal tract and abdominal wall were treated at Children's Memorial Hospital between July 1970 and July 1973. The overall mortality, including unoperated infants and those dying from other causes up to six months later, was 17%. Associated defects, particularly of the heart and CNS, were the most common causes for death. Many infants were premature; however, this factor alone did not contribute to mortality. Differences in surgical technique did not affect mortality in patients with esophageal atresia, but one baby with total aganglionosis of his colon and two with gastroschisis may have survived with different modes of therapy. Although previous advances in pediatric surgery contributed to the overall good results in these infants, parenteral alimentation emerged as the single most important factor in improved survival during this study period.

Abdominal Muscles↗
PubMed1990

Function of vitamin B12 in the central nervous system as revealed by congenital defects.

The 13 cases of methylcobalamin (MeCbl) deficiency presenting in early infancy have all been developmentally delayed, and the majority have had seizures, hypotonia, lethargy, and microcephaly. The CNS injury appears to occur during the first 6 months of postnatal life. The same symptoms are seen in acquired cobalamin (Cbl) deficiency in the same age group. MRI performed at age 18-19 months and after 13-14 months of large amounts of Cbl, in two cases showed delayed myelination, most pronounced in the cerebrum. Isolated MeCbl deficiency is the consequence of cblE and G mutations where the lesion is of a single Cbl-dependent enzyme, the methyltransferase. One effect of a deficiency of MeCbl, and of the associated failure of the methionine synthase reaction, is, therefore, an impairment of myelination of the brain of the newborn. The slow, but usually incomplete, improvement in psychomotor status after years of treatment with Cbl may be related to the eventual myelination. However, the hypotonia, lethargy, and impaired responsiveness react to treatment with Cbl within 24-48 hours, which suggests an expression of MeCbl deficiency on the CNS distinct from the delayed myelination. Although there is much to be learned, it is now clear that a normally functioning Cbl-dependent methyl transferase is required for development and function of the human brain.

Amino Acid Metabolism, Inborn Errors↗
PubMed1977

Congenital defects of the upper lateral incisors (ULI): condition and measurements of the other teeth, measurements of the superior arch, head and face.

We surveyed a French male population for the incidence of missing or reduced upper lateral incisors (ULI). In 5,738 subjects, we observed an incidence of 1.59% with one or two reduced ULI (the other normal) and 1.90% with one or two missing ULI (the other normal or reduced), altogether, 3.49% affected subjects. Furthermore, 250 random controls were observed. Agenesis of other teeth is more frequent in propositi. Missing thir molars were 12.4% in controls, 24.0% in propositi with reduced ULI and 39.6% in propositi with two missing ULI. Furthermore, agenesis of incisors, canines and premolars ranges from 0.4% in controls to 1.3% in propositi having reduced ULI and 5.0% in propositi with two missing ULI. So, propositi with reduced ULI are intermediate between the controls and the propositi with missing ULI with respect to the freeuency of agenesis of other teeth. On the other hand, a different ranking is observed with respect to the teeth measurements: reduction of tooth size is more marked in propositi with reduced ULI than in propositi with missing ULI. The reduction mainly affects canines, incisors and to a lesser degree, premolars. Arch length and interpremolar diameters are smaller in propositi with missing ULI, compared with controls.

Adolescent↗
PubMed1977

Congenital defects of the upper lateral incisors: multivariate analysis of measurements of the other teeth, the superior arch, head and face.

The survey of a French male population allowed us to ascertain 75 propositi with one or two missing ULI, 59 propositi with one or two reduced ULI and 99 controls on whom measurements (mesiodistal and buccolingual diameters) of all of teeth of the superior arch are available. Principal Component Analysis gave a first estimated principal component highly correlated with each of the dental measurements of arch measurements. This size factor was eliminated by observing the plane of the second and third principal components. Strikingly different clusters of MD diameters or BL diameters were observed for the controls, the propositi missing one or two fo the ULI and the propositi with reduced ULI. For the controls, the arch length is correlated with the MD molar diameters and the MD incisor diameter, the arch width being isolated from the other measurements. For the propositi with missing ULI, among the dental measurements the MD and BL diameters cluster, the arch length is isolated as are the arch widths. For the propositi with reduced ULI, the rich length is closer to the dental measurements while the widths, especially the first one, are isolated. The best discriminant measurements are the diameters of the first premolars and the canine, the first arch width and the arch length. Among controls, the arch is narrowed and shorter for the propositi with absence and wider for the propositi with reduction. Teeth measurements are always smaller in propositi.

Adolescent↗
PubMed1980

Congenital defects of the upper lateral incisors (ULI) and the morphology of other teeth in man.

A sample of 192 male propositi with at least one ULI either missing or reduced has been compared with 197 male controls in terms of the morphology of the other teeth. Every class of propositi exhibits modifications in the following characters: Significant differences between propositi and controls were found for molar cusp number and groove pattern, particularly in the lower first molar and in propositi with reduced ULI. Significant differences between propositi and controls were also found with respect to caniniform pattern of the lower first premolar. The Carabelli's cusp is rarer in propositi. A hypothesis to account for these observations is proposed.

Adolescent↗
PubMed1993

Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients.

CYP11B2, the gene coding for steroid 18-hydroxylase (P-450C18), has been recently shown to be the same gene as that for corticosterone methyl oxidase type I and type II (CMO I & II) which were previously postulated to catalyze the final two steps in the biosynthesis of aldosterone in humans. Molecular genetic analysis of CYP11B2 of three patients affected with CMO I deficiency has revealed that deletion of 5 nucleotides occurs exclusively in exon 1, resulting in a frameshift to form a stop codon in the same exon. Thus, P-450C18 is not produced at all due to the mutation, causing a complete lack of aldosterone biosynthesis in the patients. Restriction fragment length polymorphism analysis has demonstrated that the patients are homozygous and the unaffected parent is heterozygous as for the mutation, indicating that CMO I deficiency is inherited in an autosomal recessive manner. These results provide the molecular genetic basis for the characteristic biochemical phenotype of CMO I deficient patients.

Aldosterone↗