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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The causes of infertility in 504 men were studied prospectively. The major causes were varicocele (28.8%), infection (20.8%), bilateral testicular failure (15%), idiopathic oligospermia (6.6%), multifactorial (5.6%), cryptorchidism (4%), sexual problems (3.8%) and surgical injury (1.6%). Unilateral testicular torsion and sickle cell disease though of less frequent occurrence were of particular interest because their roles are only now beginning to be realized. Gonadotrophin deficiency was an insignificant cause of subfertility. In spite of the high incidence of infection and past history of urethritis Neisseria gonorrheae was surprisingly not isolated from any patient. Compared with Caucasian studies, the high incidence of infection, and the low incidence of gonadotrophin deficiency are major points of difference.
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PMID:The causes of male infertility in 504 consecutive Nigerian patients. 287 82

40 male patients aged 17 years and older and attending the routine sickle cell outpatient clinic at Lagos University Teaching Hospital, Nigeria, were studied to evaluate the fertility potential of men with sickle cell disease. Their hemoglobin types were determined by cellulose acetate electrophoresis at pH 8.9. They were in the stable phase of their disease during the study. The history taken included information on age, marital status, sexual experience, and whether the patient had fathered a child. During the physical examination a note was made of the presence of varicocele and prostatic infection. Semen produced by masturbation after 4-5 days of sexual continence was collected in the laboratory in wide-necked bottles. It was tested as soon as it liquefied for semen volume, viscosity, pH, liquefaction time, sperm density, motility, and morphology. Sperm morphology was examined after supravital staining. Evaluation of sperm quality and quantity was based on the guidelines suggested by Eliasson and Freud. Semen analysis was repeated after 2 weeks or more and the mean of the 2 results was taken for analysis. The patients' mean age was 20.56 years. None of the subjects had a varicocele or clinical evidence of urinary tract infection. 4 patients were married. All had barren marriages, but 3 claimed to have had children extramaritally. Of the 36 unmarried patients, 10 had had coitus before, and 1 claimed to have a child. 23 patients provided semen for analysis. The ejaculate volume ranged from 0.2-6 ml. The sperm density varied from 0-98 million/ml. The mean total sperm count was 52.67 millions/ejaculate. The seminal fluid profiles were compared with those of 25 fertile male controls whose wives were 3 months pregnant and attending antenatal clinics in the same hospital. No semen sample from the sickle cell subjects met the generally accepted minimum requirement for fertility, i.e., 20 million sperms per ml, of which at least 40% should be alive and at least 60% should be well formed. Comparison between the fertile male controls and the sickle cell subjects showed no significant difference in enjaculate volumes, but there were striking differences in sperm concentration, total sperm count, motility, and morphology. Infertility seems to be a greater problem among males than females with sickle cell disease, because such men rarely have fathered children, whereas many women with sickle cell disease have had sucessful pregnancies.
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PMID:Fertility in males with sickle cell disease. 611 23

The complications and outcome of 125 pregnancies in women with sickle cell disease between 1975 and 1981 are reviewed. There were no maternal deaths, but a perinatal mortality rate of 48 per 1000. The main maternal complications were sickling crises (38%), anaemia (65%), infections (61%) and severe pregnancy-induced hypertensive disease (5%). There were three patients with eclampsia. There was a 13% spontaneous preterm delivery rate, 25% of the babies were 'light-for-dates', fetal distress in labour was seen in 24% and 15% were delivered by caesarean section. There was an increased incidence of involuntary infertility and spontaneous abortion. The treatment by prophylactic blood transfusions is discussed.
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PMID:Pregnancy in sickle cell disease in the UK. 682 10

New reproductive genetics means recently developed techniques to prevent the birth of children with specific defects or genetic diseases by testing individuals for sickle cell anemia, the thalassemias, Tay-Sachs disease, cystic fibrosis, or Down syndrome. Third World health services have many deficiencies with high maternal mortality rates (30-40 fold higher than in developed countries), the low percentage of births delivered by health personnel, the high rates of low birth weight babies, and high child malnutrition and infant mortality rates. The main issues in women's reproductive health are fertility regulation, abortion, maternal mortality, sexually transmitted diseases, and infertility. As a result of expansion in contraceptive use worldwide, the total fertility rate in developing countries has declined from 6.1 in 1965 to 3.9 in 1990. It is estimated that, worldwide, 36-53 million induced abortions are performed each year, most of them in developing nations. WHO estimates that more than 500,000 women die each year because of complications of pregnancy, most in developing countries. More than 95% of the 13 million estimated deaths of children under 5 years of age have occurred in these countries. Approximately 200 million people carry a potentially pathologic hemoglobinopathy gene, and about 250,000 children are born every year with hemoglobinopathy, most of them in the developing world. Reproductive genetic testing in big cities and in private for-profit ventures cater to the socioeconomic elite. Amniocentesis is often misused for fetal sex determination to abort female fetuses in India. Currently, in Cuba virtually every pregnant woman is tested for sickle cell trait and maternal serum alpha-fetoprotein levels between 15 and 20 weeks of gestation. It is predicted that the judicious use of reproductive genetic testing will be possible when health and quality of life issues are addressed properly.
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PMID:Reproductive health and genetic testing in the Third World. 840

India, like other developing countries, is facing an accelerating demographic switch to non-communicable diseases. In the cities congenital malformations and genetic disorders are important causes of morbidity and mortality. Due to the high birth rate in India a very large number of infants with genetic disorders are born every year almost half a million with malformations and 21,000 with Down syndrome. In a multi-centric study on the causes of referral for genetic counselling the top four disorders were repeated abortions (12.4%), identifiable syndromes (12.1%), chromosomal disorders (11.3%) and mental retardation (11%). In a more recent study in a private hospital the top reasons for referral were reproductive genetics (38.9%)--comprising prenatal diagnosis, recurrent abortions, infertility and Torch infections--mental retardation +/- multiple congenital anomalies (16.1%), Down syndrome (9.1%), thalassemia/haemophilia (8.8%), and muscle dystrophy/spinal muscular atrophy (8.4%). The disorders for which prenatal has been done over an 18-month-period are given. A recent study carried out in three centers (Mumbai, Delhi and Baroda) on 94,610 newborns by using a uniform proforma showed a malformation frequency of 2.03%, the commonest malformations are neural tube defects and musculo-skeletal disorders. The frequency of Down syndrome among 94,610 births was 0.87 per 1000, or 1 per 1150. Screening of 112,269 newborns for aminoacid disorders showed four disorders to be the commonest--tyrosinemia, maple syrup urine disease and phenylketonuria. Screening of cases of mental retardation for aminoacid disorders revealed four to be the commonest--hyperglycinemia, homocystinuria, alkaptonuria, and maple syrup urine disease. Metabolic studies of cases of mental retardation in AIIMS, Delhi and KEM Hospital, Mumbai, demonstrated that common disorders were those of mucopolysaccharides, lysosomes, Wilson disease, glycogen storage disease and galactosemia. It is estimated that beta- thalassemia has a frequency at birth of 1:2700, which means that about 9,000 cases of thalassemia major are born every year. Almost 5200 infants with sickle cell disease are born every year. Disorders, which deserve to be screened in the newborn period, are hypothyroidism and G-6-PD deficiency, while screening for aminoacid and other metabolic disorders could presently be restricted to symptomatic infants.
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PMID:Burden of genetic disorders in India. 1126 88

Reproductive technology comprises abortion, contraception, amniocentesis (more than 40 genetic disorders can be diagnosed), chorionic villus sampling, genetic screening (to reduce the risk of chromosomal defects such as Down syndrome, sickle cell anemia, Tay-Sachs disease, and cystic fibrosis), in vitro fertilization, artificial insemination by spouse or donor, the development of sperm banks, storage of frozen sperm (cryopreservation), the development of artificial wombs, techniques for predetermining the sex of a fetus, and nursery environments to maintain a fetus removed from the womb in the 1st trimester. In recent years, the demand for these services has increased because of higher infertility and the drop in the number of babies available for adoption. Surrogacy is especially controversial: it has become a symbol of the dehumanization of modern life and the exploitation of women. The feminist perspective discloses how patriarchal values about the subordinate status of women, about the nature of motherhood, infertility, and the family are both implicit and explicit in prevailing thinking about reproduction. The new technology offers women who wish to remain unmarried the opportunity to have a family, and it enables lesbian women to bear children. The research literature favors a Eurocentric nuclear family without any awareness that in Canada, and in the Western world, new forms of family life have been evolving as couples marry, divorce, and remarry. There is no awareness either that in other cultures this Eurocentric nuclear model is dysfunctional. Because of the rigid notion of the 2-parent nuclear family, the 3rd parties who are involved in either surrogate relationships or artificial insemination are deprecated. The feminist literature is more critical of the nuclear family, but it has been sometimes inconsistent on the relevant issues.
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PMID:Public policies and reproductive technology: a feminist critique. 1231 72

Each year as a consequence of pregnancy and delivery at least 500,000 women die, 99% of them in developing countries. Most maternal deaths are avoidable. For each death, 10-15 other women suffer serious health effects which may lead to chronic pain or even social isolation. Childbirth is riskier for women who are too young or too old, who have many children, or whose births are too closely spaced. Limiting family size reduces both maternal and child deaths. In developed countries, 5-30 women die per 100,000 births, compared to 50-800 in developing countries. Maternal mortality rates at 2 hospitals in Yaounde, Cameroon, have declined significantly in recent years, probably due to establishment of high risk pregnancy clinics, improved monitoring during labor, and child spacing clinics. Improved obstetric services and child spacing could reduce maternal mortality in developing countries as they have in the developed world. The use of contraception has been a controversial topic in traditional African societies, but by now the majority of governments of developing countries include family planning programs in their development plans for their health as well as their economic benefits. Despite gradual increases, fewer than 5% of women in most African countries use modern contraception. African men play an insignificant role in family planning. The continuing practices of prolonged lactation and postpartum abstinence in rural areas have compensated to some extent for the absence of modern contraception. Oral contraceptives are the most widely used reversible method. They may protect against vaginal infection, iron deficiency anemia, ectopic pregnancy, benign breast disease, ovarian and endometrial cancer, dysmenorrhea, endometriosis, and rheumatoid arthritis. There is evidence that some steroid hormones have a beneficial effect in stabilizing the cellular membranes of red blood cells in women with sickle cell anemia. The danger of infection with the IUD is largely limited to the 1st 4 months of use and to women with sexually transmitted diseases. Careful selection of candidates, aseptic insertion, and regular follow-up are needed to ensure IUD safety. The IUD is contraindicated for nulliparas. Barrier methods provide contraception as well as some protection against sexually transmitted diseases. Condoms have a significant protective effect against HIV infection. Diaphragms, cervical caps, and vaginal sponges provide some protection against infections like gonorrhea and chlamydiae that invade the cervical cells. Many adolescents resist condoms because they diminish sensation. But condoms provide protection against sexually transmitted diseases and are appropriate for individuals with sporadic sex lives. Oral contraceptives are more effective but adolescents are at risk of forgetting pills. IUDs are the least attractive option for adolescents because of the danger of infection and subsequent infertility.
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PMID:[High risk pregnancies and family planning]. 1234 59

The development of reduced-intensity conditioning (RIC) and the success of BMT for paediatric sickle cell disease (SCD) have raised the possibility of revisiting this prospect in adults as well. In a chronic debilitating disorder managed with supportive therapy, the patients' perception is critical in the advancement of any potential curative therapy. To explore this aspect, we undertook a questionnaire-based survey on 30 adults with SCD. Sixty two per cent of the patients were ready to accept a transplant-related mortality (TRM) >10%; 30% of them a TRM >30%. A risk of graft failure (GF) >10% was acceptable to 64%, with a risk >30% acceptable to 41%. Infertility was acceptable to only 50%. Chronic graft-versus-host disease (GVHD) was unacceptable to the majority (80%). Seventy six per cent% of patients had a full sibling and 60% were willing to participate in a clinical trial of RIC transplantation. This survey suggests that the majority of adults with SCD might be willing to consider a curative option such as RIC transplantation even with a high TRM or GF. The major concerns relate to chronic GVHD and infertility. There is an urgent need to explore RIC transplants in SCD patients within the framework of a clinical trial, considering patient perception regarding cure and complications.
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PMID:A survey on patient perception of reduced-intensity transplantation in adults with sickle cell disease. 1733 83

Since 1999, the Erasme Hospital Fertility Clinic has carried a special programme for patients with HIV seropositivity. The philosophy of the programme is to give access to these patients in a secure environment to the same technological facilities available to any other patients. Many of these patients being native from sub-Saharan countries, they are often sickle cell disease (SCD) carriers, a common autosomal recessive disorder in these regions, and a severe affection in homozygotes. We hereby report, for the first time, the birth of a healthy sickle haemoglobin (HbS) heterozygous baby after preimplantation genetic diagnosis (PGD) for SCD in an HIV-serodiscordant couple of HbS mutation carriers with longstanding infertility. The prospective mother was 35 years old and HIV positive with an undetectable viral load under highly active antiretroviral therapy. One carrier embryo was transferred and resulted in the birth of a healthy HbS carrier baby girl. Despite stimulation difficulties, sometimes described in HIV patients, PGD represents an interesting additional technology, especially in populations where the coexistence of both diseases is frequent. PGD could even be preferred to prenatal diagnosis for couples of HbS carriers if the woman is HIV positive, as invasive prenatal samplings carry a risk of materno-foetal viral transmission.
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PMID:Preimplantation genetic diagnosis in an HIV-serodiscordant couple carrier for sickle cell disease: lessons from a case report. 1905 17

Although several reports on male infertility suggest a relationship between chromosome 9 polymorphisms and infertility, the effects on the phenotype have not been extensively reported. In this study, an infertile patient was found to carry a 9qh+++ chromosome. The flow cytometric TUNEL assay and SCD test have been applied to characterize sperm DNA integrity. In order to assess its meiotic behaviour, synapsis, recombination, and aneuploidy, analyses have been also performed. Sperm DNA fragmentation (SDF) was 77.81% and 87% for the TUNEL and SCD tests, respectively. Ninety-two percent of pachytene cells analyzed showed meiotic abnormalities. The mean number of MLH1 foci per pachytene in the control group was higher (49) than the mean found in the 9qh+++ patient (38) (P < .0001). In spermatozoa, significant increases of disomy rates were observed for chromosome 18 and for the sex chromosomes (P < .0001). These disturbances could be present in other male carriers of a less marked 9qh+.
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PMID:Sperm DNA integrity and meiotic behavior assessment in an infertile male carrier of a 9qh+++ polymorphism. 2119 55


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