Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013080 (Down syndrome)
 14,180 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
 ...
PMID:Burden of genetic disorders in India. 1126 88

Twin pregnancy following assisted reproductive technology with a euploid fetus and a coexisting aneuploid co-twin constitutes a conflicting situation; therefore, it is important for the genetic constitution of each co-twin to be diagnosed accurately and promptly for parental genetic counseling and subsequent aggressive management. A 35-year-old woman, gravida 1, with a 2-year history of infertility, presented bilateral fallopian tubal obstruction at her infertility workups, for which she received in vitro fertilization; subsequently she conceived a twin pregnancy. She underwent genetic amniocentesis at 16 weeks' gestation, as indicated by an advanced maternal age. Presented with the diagnosis of twin pregnancy with discordancy for trisomy 21, a rapid fluorescence in situ hybridization (FISH) technique for aneuploidy mapping was applied for subsequent abdominal selective fetal reduction. The FISH technique facilitates the rapid analysis of uncultured amniocytes. Normal (disomic) and trisomic samples can be distinguished clearly and rapidly for subsequent selective fetocide. The FISH technique is an important tool in prenatal diagnosis and clinical applications.
 ...
PMID:Selective termination of aneuploidy utilizing rapid fluorescence in situ hybridization detection techniques. 1177 Nov 88

Surgery remains an important tool for the management of ovarian cysts. The question is whether patients of reproductive age should be given conservative treatment or undergo unilateral oophorectomy according to infertility risk. The literature is too sparse to conclude, but there are two arguments favoring conservative treatment: i) unilateral ovariectomy may impair residual ovarian function, ii) reduction of ovarian follicular number appears to be associated with increased risk of trisomy 21 in offspring.
 ...
PMID:[Management of ovarian cysts: consequences of ovarian surgery on fertility]. 1191 81

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.
 ...
PMID:Public policies and reproductive technology: a feminist critique. 1231 72

This communication reports prenatal diagnosis of partial trisomy 21 resulting from balanced translocation (21q;22q) in a 36-year-old gravida 7, para 1 woman. The lady had only one living child and there was history of recurrent spontaneous first trimester abortions. Triple test was abnormal in the present conception. In addition, the woman had pericentric inversion of chromosome 9, a finding scarcely reported previously with carrier status in Indian literature. A few cytogeneticists consider this as a normal variant. However, many reports in the recent literature link pericentric inversion of chromosome 9 with infertility, recurrent abortions and a number of other abnormal conditions. A review of the relevant literature pertinent to the case is provided.
 ...
PMID:Prenatal diagnosis of partial trisomy 21 associated with maternal balanced translocation 46xx der 21 t(21q;22q) with pericentric inversion of chromosome 9. 1286 93

Subclinical thyroid disease is defined by an abnormally high (subclinical hypothyroidism) or low (subclinical hyperthyroidism) serum thyrotropin (TSH) with peripheral thyroid hormone concentrations within the laboratory reference ranges. Such abnormalities in thyroid function tests are very common in the population and have been extensively dealt with in textbooks and reviews. Subclinical hypothyroidism is common especially in elderly women. There is no clear evidence to date that subclinical hypothyroidism causes clinical hearth disease. However, mild thyroid gland failure, evidenced solely by elevation of the serum TSH concentration, may be associated with increased morbidity, particularly for cardiovascular disease and subtly decreased myocardial contractility. In subclinical hypothyroidism both cardiac structures and function remain normal at rest, but impaired ventricular function as well as cardiovascular and respiratory adaptation to effort may became unmasked during exercise. These changes are reversible when euthyroidism is restored. Subclinical hypothyroidism does result in small increase in low density lipoprotein cholesterol and a decrease in high density lipoprotein, changes that enhance the risk for development of atherossclerosis and coronary artery disease. Because undetected subclinical hypothyroidism during pregnancy may adversely affect the neuropsychological development and survival of the fetus and be associated with hypertension and toxemia, screening pregnant women has been advocated. In addition, data suggesting that subclinical hypothyroidism is associated with ovulatory dysfunction and infertility may make screening worthwhile in this population as well. The combination of an undetectable serum thyrotropin concentration, as measured by an assay with a threshold of detection that is 0.1 mU per liter or less, and normal serum triiodothyronine and thyroxine concentrations (usually at the upper end of the normal range) is known as subclinical hyperthyroidism. This condition reflects the facts that before clinical features of thyrotoxicosis are apparent, the thyrotrophs usually respond to minor increments in thyroid hormone concentrations, which remain within the normal range, by switching off the production and secretion of thyrotropin. In the absence of clinical signs of thyroid disease, and even after additional investigations such as isotope uptake and imaging and measurement of the thyrotropin receptor antibody concentration, it may be difficult to decide whether the pattern seen on thyroid function tests is a consequence of nonthyroidal illness and concomitant medication, underlyling thyroid autonomous function or the initial phase of thyroiditis. Routine screening for thyroid disease with thyroid function tests is not recommended for asymptomatic children or adults. This recommendation does not mean that clinicians should not monitor thyroid function in patients with a previous history of thyroid disease. There is insufficient evidence to recommend for or against screening for thyroid disease with thyroid function tests in high-risk patients, including elderly persons, postpartum women, and persons with Down syndrome, but recommendations may be made on other grounds, such as the higher prevalence of disease and the increased likelihood that symptoms of thyroid disease will be overlooked in these patients. If screening is performed, the preferred test is measurement of thyroid-stimulating hormone (TSH) using a sensitive immunometric or similar assay, because of its superior sensitivity and specificity.
 ...
PMID:[Subclinical thyroid disease--should we treat, should we screen for it?]. 1511 90

The phenotype of an individual, including their susceptibility to disease, is governed by several factors including parental genes and intrauterine environment. Thus, the risk of developing Type 2 diabetes is modulated by the inheritance of specific genetic variants that are slowly being characterised by the techniques of linkage analysis and population association studies using either a candidate gene or genome-wide scan approach. At the same time, evidence has accrued that alterations in the nutritional status of the developing foetus also increase the risk of diabetes in later life. Restricting protein intake in pregnant dams or interfering with placental function increases the risk of diabetes in offspring and light weight babies are more likely to develop Type 2 diabetes as adults than heavier ones. The oocyte plays a key role, since it contains not only the maternal haplotype but other information such as mitochondrial DNA and factors that modulate the expression of genes in the developing foetus. Although the ovaries contain a huge number of primordial follicles, generally each month only one oocyte matures to ovulation. Little is known about the processes that control this phenomenon. Certainly, primordial follicles and oocytes are not all the same, differing especially in mitochondrial DNA content. As women age, the oocytes released are more likely to contain genetic errors, explaining the increased risk of Trisomy 21 with maternal age. It is generally assumed that primordial follicle development and the selection of a single ooctye for ovulation is a random process. This paper suggests that this may not be the case but that a carefully controlled system may allow the mother to release an oocyte that is best suited to the prevailing environment. This would represent an important mechanism for species adaptation. Many human infertility treatments involve pharmacological superovulation, egg harvesting and culture prior to in vitro fertilisation and reimplantation. These will bypass any system of controlled ovulation and therefore might alter the risk of diseases such as Type 2 diabetes mellitus in later life. Although the offspring of human infertility treatments are generally born healthy, it is important to note that the oldest "test-tube" baby is still less than 30-years old, so the risk of late-onset diseases is still unknown.
 ...
PMID:Intrauterine environment and later disease development: infertility treatment and the risk of diabetes in offspring. 1651 86

We report the case of a 40-year-old patient referred to our centre after 3 years of infertility. Karyotyping with the aid of fluorescence in situ hybridization (FISH) analysis showed a unique pericentric inversion of chromosome 21:46,XY,inv(21)(p12q22.3). This type of intrachromosomal structural rearrangement can lead to chromosome imbalance in offspring by producing unbalanced gametes if an odd number of crossover events occur within the inverted segment. Therefore, partial trisomy/monosomy with clinical consequences can be observed in the progeny of carriers. Semen samples from the inversion carrier were analysed by FISH using a combination of probes [a subtelomeric 21q probe and a locus-specific Down's syndrome critical region (DSCR) probe] to evaluate the proportion of recombinant chromosomes. Sperm-FISH analysis of 3400 spermatozoa revealed a 67.4% rate of balanced chromosomes (normal or inverted). The frequencies of recombinant chromosomes with duplication of the long arm and deletion of the short arm, and vice versa, were 11.2 and 21.4%, respectively. The risk for the couple of conceiving a child with an unbalanced chromosome 21 is estimated to be around 32%. This case study shows the utility of sperm-FISH analysis in the genetic counselling of a pericentric inversion in a male carrier to assess the frequency of recombinant chromosomes and therefore evaluate the probability of having a normal conception.
 ...
PMID:Chromosome segregation in an infertile man carrying a unique pericentric inversion, inv(21)(p12q22.3), analysed using fluorescence in situ hybridization on sperm nuclei: significance for clinical genetics. A case report. 1717 44

Women who get pregnant after infertility treatment differ from women with naturally conceived pregnancies concerning prenatal screening: on average they are older and therefore they have a greater risk of carrying a child with Down's syndrome, their children have an increased risk of congenital malformations, and they have a great wish to avoid invasive prenatal diagnostic tests. The conclusion of this review is that first trimester screening is an acceptable choice for these women, although larger studies are needed to clarify whether a correction factor is necessary for the biochemical markers.
 ...
PMID:[Prenatal screening and diagnostics after infertility treatment]. 1728 Jun 35

We retrospectively compared the first trimester Down's syndrome serum screening markers free beta-hCG (fbetahCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11-14 weeks of gestation in 4,088 women with naturally conceived pregnancies and in women pregnant after ICSI (n = 163), IVF (n = 59) and frozen-thawed embryo transfer (n = 31), and we searched for a potential relationship between infertility cause and marker levels. We found lower serum PAPP-A levels in pregnancies after IVF and ICSI compared with spontaneously conceived pregnancies and non-male factor infertility was associated with elevated serum fbetahCG levels at 11-14 weeks of gestation.
 ...
PMID:First trimester screening for Down's syndrome after assisted reproductive technology: non-male factor infertility is associated with elevated free beta-human chorionic gonadotropin levels at 10-14 weeks of gestation. 1816


<< Previous 1 2 3 4 5 6 Next >>