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At least 1,495 records · Page 83Linked to original sources
PubMed2000

A 39-year followup of the Genain quadruplets.

The Genains, a unique group of monozygotic female quadruplets, all developed a schizophrenic disorder by age 24. They have been studied since the 1950s, because of the rarity of this occurrence (estimated to be one in 1.5 billion) and because their illnesses varied in severity. The identical inheritance would tend to rule out genetic differences as the cause of the neuropsychological differences; however, we cannot disentangle the effects of early brain injury and harsh punitive treatment as factors accounting for the differences in the severity of their disorders. We conducted neuropsychological examinations of the Genains at age 66, compared their test profiles, and contrasted certain test scores at 66 with those at ages 27 and 51. Test results indicate generally stable (or even improved) performance over time and support the notion that cognitive decline is not a degenerative process in schizophrenia. The Genains remind us of the exquisite interaction among variables that must be understood before additional, satisfactory progress can be made in preventing the development and predicting the course of schizophrenia.

Adult↗
PubMed1995

Lower mortality for female-female twins than male-male and male-female twins in rural Senegal.

Twins have been registered prospectively for 12-22 years in 42 small villages in the Bandafassi area of Eastern Senegal. We studied 98 pairs of twins to test whether twins in opposite-sex pairs have higher postneonatal mortality than same-sex twins. Neonatal mortality for twins was 41.3%; mortality for infants and for children under age 5 years was 53.0% and 66.8%, respectively. Neonatal mortality was identical for same-sex and opposite-sex twin pairs, but much higher for boys than girls [relative risk = 1.8; 95% confidence interval (CI) = 1.2-2.6]. There was clustering of double neonatal deaths for all types of twins. In the postneonatal period, female-female twins had lower mortality than other twin types. Twins had higher post-neonatal mortality as long as the co-twin was alive [mortality rate ratio (MR) = 2.6; 95% CI = 1.0-6.7]. Girls had excess mortality when the co-twin was of the opposite sex (MR = 4.3; 95% CI = 1.2-15.3), whereas there was no difference for boys. In conclusion, contact with a co-twin of the opposite sex increased child mortality for female twins. Our data are not sufficient to determine whether this difference is specific for girls or applies to boys as well.

Child, Preschool↗
PubMed1978

Idiopathic and congenital scoliosis in twins.

This report contains a case presentation of monozygotic twins who had concordant right thoracic scoliosis of differing severities. One twin also had an associated congenital left lumbar scoliosis and urologic abnormalities. This report would suggest that the genetic basis of scoliosis may occur at multiple gene loci.

Abnormalities, Multiple↗
PubMed1997

The winged helix transcription factor MFH1 is required for proliferation and patterning of paraxial mesoderm in the mouse embryo.

The gene mfh1, encoding a winged helix/forkhead domain transcription factor, is expressed in a dynamic pattern in paraxial and presomitic mesoderm and developing somites during mouse embryogenesis. Expression later becomes restricted to condensing mesenchyme of the vertebrae, head, limbs, and kidney. A targeted disruption of the gene was generated by homologous recombination in embryonic stem cells. Most homozygous mfh1 null embryos die prenatally but some survive to birth, with multiple craniofacial and vertebral column defects. Using molecular markers, we show that the initial formation and patterning of somites occurs normally in mutants. Differentiation of sclerotome-derived cells also appears unaffected, although a reduction of the level of some markers [e.g., mtwist, mf1, scleraxis, and alpha1(II) collagen] is seen in the anterior of homozygous mutants. The most significant difference, however, is a marked reduction in the proliferation of sclerotome-derived cells, as judged by BrdU incorporation. This proliferation defect was also seen in micromass cultures of somite-derived cells treated with transforming growth factor beta1 and fibroblast growth factors. Our findings establish a requirement for a winged helix/forkhead domain transcription factor in the development of the paraxial mesoderm. A model is proposed for the role of mfh1 in regulating the proliferation and differentiation of cell lineages giving rise to the axial skeleton and skull.

Animals↗
PubMed2004

Disseminated linear calcinosis cutis associated with the Koebner phenomenon in an infant with congenital acute monocytic leukaemia.

We present a unique case of an infant with acute monocytic leukaemia who presented at birth with multiple rubbery, erythematous to violaceous subcutaneous nodules secondary to leukaemia cutis. As these infiltrates regressed with chemotherapy, numerous white to yellow linear confluent papules appeared in a scratch-like pattern. These lesions were widely disseminated but were concentrated across her face, trunk and extremities with relative sparing of the napkin area and back. We propose that these lesions represent a form of dystrophic calcinosis cutis that occurred secondary to koebnerization in an infant with congenital leukaemia cutis.

Calcinosis↗
PubMed2004

Familial hypercholesterolemia (Type IIb) in a child: a case report with interesting features.

Familial hypercholesterolemia (FH) is the most commonly recognized disorder of lipoprotein metabolism in childhood. We report a case of FH in a 5-year-old boy with onset of jaundice since birth, and multiple planar, tuberous, palmar and intertrigenous xanthomas covering the trunk and limbs. His total cholesterol was 590 mg/dl and triglycerides were 171 mg/dl. Echocardiography revealed mild aortic stenosis as a result of premature atherosclerosis. He was diagnosed with homozygous FH, and is reported here because of the interesting clinical features.

Child↗
PubMed1981

Interstitial deletion of the long arm of chromosome no. 5 in two unrelated children with congenital anomalies and mental retardation.

Two unrelated children with partial deletion of the long arm of a chromosome no. 5 are reported. The boy presented with severe hypotonia, developmental delay, and a few minor defects of the face including frontal bossing, antimongoloid slant of the palpebral fissures, depressed nasal bridge and bilateral epicanthal folds. With age, his hypotonia has improved. The parents have normal chromosomes; the mother has a 9qh+ variant. The second patient, a girl, presented at birth with multiple congenital anomalies including cleft palate, epicanthal folds, anteverted nostrils, horseshoe kidneys and club feet. At 4 years of age, she was small and severely retarded. The normal parents and the normal sister showed no chromosomal abnormalities. Gene mapping studies in both patients failed to define a specific gene locus to the deleted chromosome regions. Including these two patients, there appear to be only three reported cases of patients with 5q deletion. A comparative description of the third patient is included in this report. There are some clinical similarities but these are inadequate to identify a clinical syndrome. This perhaps is explained by some quantitative and qualitative differences in the deletions.

Abnormalities, Multiple↗