Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Utilizing an easy and safe procedure for fetal blood sampling in utero we have studied 409 fetuses for prenatal diagnosis of rubella, toxoplasmosis, hemophilia, and hemoglobinopathies. Retrospectively we selected 163 fetuses confirmed as normal at birth and tested between 18 and 30 wk of gestation to establish normal hematological parameters and to follow the evolution of erythropoiesis, differential counts, hemoglobin synthesis, and hemostasis. Total white blood cell and platelet counts did not change during this period. The lymphocytes represented the main population and we observed a decrease of normoblasts during gestation. The results show a progressive increase of red blood cells and hemoglobin. This evolution is demonstrated by the ratio hemoglobin A to acetylated hemoglobin F. No significant modification of hemostasis was observed over a 12-wk intrauterine gestation. These results provide useful reference values for future investigations.
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PMID:Hematological values of 163 normal fetuses between 18 and 30 weeks of gestation. 370 24

There is an increased attention to preconception care and counseling (PCC) in the US. Midwives should include it into their practice. Even though the PCC concept is new, many midwives already know and/or practice its components, including risk assessment, health promotion, psychological and medical interventions, and follow-up. Opportunities for PCC are gynecology visits, postpartum visits, school-based programs, occupational health centers, and local health departments. Midwives can help women decide whether they are psychologically prepared for motherhood through group discussions and family-timing scenarios. They should refer women to substance abuse counseling and address physical abuse. A medical history and physical exam followed by an evaluation of any medical problems are also important. Preconception screening should include laboratory tests for hemoglobin or hematocrit, Rh factor, rubella titer, urine dipstick (protein and sugar), Pap smear, gonococcal culture, syphilis ...... and hepatitis B test. Midwives should offer women an illicit drug screen and an HIV serodiagnostic test. Additional tests recommended for some women include a tuberculosis screen, chlamydia culture or rapid screen, toxoplasmosis, herpes simplex, cytomegalovirus, varicella, hemoglobinopathies, Tay-Sachs, and karyotype. Factors which may affect sperm morphology are cigarette smoking, alcohol drinking, vitamins A and E, linoleic acid, and zinc. Other male factors which may affect pregnancy outcome are advanced age, sexually transmitted diseases, HIV, and exposure to drugs and chemicals. Midwives should determine the need to refer women for genetic counseling. They can help establish a positive environment for conception by conducting a nutritional history and counseling; promoting vitamin supplementation; by counseling about dangers of cigarette smoking, alcohol drinking, and drugs; and by keeping up to date on reproductive toxicology, environmental pollutants, and occupational hazards. Midwives should take a menstrual, contraceptive, and sexual history. Menstrual charting can help detect ovulation. Other issues needing to be addressed are infertility and choosing a care provider and birth place.
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PMID:Preconception care. An opportunity to maximize health in pregnancy. 841 Mar 47

Prenatal diagnosis of infectious diseases has been shown to be indispensable to confirm or exclude in utero infections due to cytomegalovirus, rubella, toxoplasmosis, varicella, parvovirus and herpes simplex, and a multidisciplinary approach is needed. Our report is on data obtained from 236 pregnant women at risk for the above-mentioned conditions. The specific IgM test suggested seroconversion in only 198 of these patients and 162 of them requested prenatal diagnoses by means of fetal blood sampling or amniocentesis, or both. The results are encouraging but more work is required to optimize our diagnostic approach, i.e., monoclonal antibodies and DNA probes with direct identification by means of choronic villi sampling, which we use for prenatal diagnoses of hemoglobinopathy (DNA-genetic).
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PMID:Prenatal diagnoses of cytomegalovirus (CMV), rubella, toxoplasmosis, varicella, parvovirus, herpes simplex and syphilis. the Lagos programme experience. 2042 Feb 79

Anemia in neonatal period is rare, with the common causes being Rh and ABO blood group incompatibility, hemorrhagic disease of newborn, congenital hemolytic anemia, hemoglobinopathies, and TORCH (toxoplasmosis, rubella, cytomegalovirus, herpes virus) infections. Congenital leukemia and infantile osteopetrosis (OP) are among the rare causes of neonatal anemia. A review of the literature shows approximately 200 reported cases of congenital leukemia. Articles describing the imaging features of congenital leukemia are still rarer. Infantile OP, another rare disorder with a reported incidence of 1 in 250,000 has characteristic imaging features, which are diagnostic of the disease. We report a case each, of two rare diseases: Congenital leukemia and infantile osteopetrosis. Additionally, our report highlights the radiological and imaging features of congenital leukemia and infantile OP and their crucial role in arriving at an early diagnosis.
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PMID:Imaging diagnosis of neonatal anemia: report of two unusual etiologies. 2460 54