Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To determine the influence of hemoglobinopathy on growth and development, we examined the height, weight, and sexual maturation of 2115 patients 2 to 25 years old who had homozygous sickle-cell disease (SS), SC disease (SC), sickle beta+ thalassemia (S beta+), or sickle beta O thalassemia (S beta O). Using regression analysis of these cross-sectional data to generate growth and maturation curves for each hemoglobinopathy, we found that the curves for all hemoglobinopathy groups were significantly different from published norms for black subjects (P less than 0.001), and that subjects with SS and S beta O were consistently smaller and less sexually developed than those with SC and S beta+ (P less than 0.001). For both sexes and all hemoglobinopathies, low weight was more pronounced than short height and was most apparent in subjects over the age of seven. The median age of the female subjects who had attained at least Tanner Stage V was 17.3 years for those with SS, 17.2 years for S beta O, 16.0 years for SC, and 16.5 years for S beta+; among male subjects the corresponding values were 17.6, 18.8, 16.6, and 16.6 years. Discriminant analysis of menarche status, weight, age, and hemoglobinopathy revealed that the influences of age and weight on menarche were similar regardless of hemoglobinopathy. This relationship suggests a constitutional rather than a primary endocrinologic cause of sexual immaturity in patients with hemoglobinopathies.
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PMID:Influence of sickle hemoglobinopathies on growth and development. 672 78

Twenty-one Thai patients with beta-thalassemia/haemoglobin E and haemoglobin H diseases, 8-20-years-old, were studied. These patients had receive none or minimal blood transfusion. The important clinical endocrine abnormalities were growth retardation and sexual immaturity. GH secretion was found to be impaired in the majority of patients. Oral GTT showed chemical diabetes in one out of sixteen tests, a much lower incidence than in thalassaemic patients treated by hypertransfusion in the West. The mean insulin levels basally and after glucose loading were lower than those of the normal controls. Thyroid function was normal in all of the patients. Serum cortisol and 24-h urinary oxogenic steroids 917 OGS) levels were normal, as was adrenal cortical reserve in all the patients. The literature on endocrine function in in thalassaemia is reviewed.
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PMID:Endocrine function in thalassaemia. 726 14

Based on our experience in the field of fetal liver transplantation (FLT) that we have developed since 1976, we initiated, in 1988, in utero FLT into human fetuses, taking advantage of the immunologic tolerance in young fetuses. The transplants have involved fetuses suffering from various diseases at 12-28 weeks postfertilization, with 2 of the 6 cases eventually resulting in abortion. With the 4 other fetuses, a favorable outcome was observed. Three children are more than 4 years old, and they are alive and well, with evidence of engraftment, reconstitution of immunity, and partial correction of beta-thalassemia. In the fourth case, the fetus is alive and well and birth is expected soon. In utero transplantation of stem cells is a therapy with remarkable advantages: (a) tolerance induction due to immune immaturity of the host, (b) lack of graft-versus-host disease (GVHD) due to immaturity of the donor, (c) ideal isolation of the fetus in the maternal uterus, and (d) optimal environment for donor fetal cell development in the vicinity of host fetal cells and growth factors.
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PMID:In utero transplantation of fetal liver stem cells into human fetuses. 872

Since 1976, we have performed more than 240 fetal tissue transplants (FLTs) to treat 63 patients with severe immunodeficiency disease (IDD), with inborn errors of metabolism (IEM), or with severe aplastic anemia. In both IDD and IEM, FLT into postnatal recipients has demonstrated beneficial effects (67%) of the patients were either cured or improved significantly). In 1988, we developed in utero FLT into human fetuses, taking advantage of the immunological tolerance of young fetuses. The transplants have involved fetuses suffering from various diseases at 12-28 weeks postfertilization with 2 of the 6 cases eventually resulting in abortion. With the 4 other fetuses, a favorable outcome was observed: 3 children are now more than 4 years old, and are alive and well with evidence of engraftment, reconstitution of immunity, and partial correction of beta zero thalassemia. In the fourth case, the fetus is alive and well and birth is expected soon. In utero transplantation of stem cells is a therapy with remarkable advantages: (a) tolerance induction due to the immune immaturity of the host, (b) lack of graft-versus-host disease due to the immaturity of the donor, (c) ideal isolation of the fetus in the maternal uterus, and (d) an optimal environment for donor fetal cell development in the vicinity of host fetal cells and growth factors.
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PMID:Treatment of human fetuses and induction of immunological tolerance in humans by in utero transplantation of stem cells into fetal recipients. 887 6