scholarly journals Thyroid abnormalities among Down syndrome children from Kerala, India

2019 ◽  
Vol 6 (2) ◽  
pp. 904
Author(s):  
Vijitha Viswambharan ◽  
Mahesh M. Vasu ◽  
Ismail Thanseem ◽  
Suresh A. Poovathinal ◽  
Ayyappan Anitha
Keyword(s):  
Down Syndrome ◽  
Chromosomal Abnormalities ◽  
Primary Hypothyroidism ◽  
Chromosome 21 ◽  
Overt Hypothyroidism ◽  
Blood Collection ◽  
Serum Samples ◽  
South Indian ◽  
Secondary Hypothyroidism ◽  
Thyroid Abnormalities

Down syndrome (DS), caused by trisomy of human chromosome 21, is one of the most common chromosomal abnormalities in live born infants with a prevalence rate of 1 in 700 live births. Individuals with DS usually have comorbid conditions such as thyroid dysfunction, growth retardation, diabetes mellitus and obesity. The most frequent among these are the thyroid abnormalities which range from subclinical to overt hypothyroidism, and rarely hyperthyroidism.1-3 Individuals with DS are more susceptible to thyroid disorders compared to the general population. Primary hypothyroidism, referred to as elevated TSH, is the most common thyroid abnormality in DS; secondary hypothyroidism indicated by normal/reduced TSH is extremely rare. The prevalence of hypothyroidism varies between 3-54% in adults with DS.4 The aim of this study was to examine the incidence of thyroid abnormalities among children with DS registered in a tertiary referral center for neurodevelopmental disorders and non-communicable neurological disorders in Kerala, a south Indian state. 100 children with DS in the age range of 4 months-15 years, registered at Institute for Communicative and Cognitive Neurosciences (ICCONS), Shoranur, Kerala during the period of 2012-2016, were recruited for the study. The mean age of the participants (57 males, 43 females) was 5.4±3.8 years. The diagnosis of DS was confirmed by karyotyping. All the participants were drug-naive at the time of blood collection. 500 µl of serum samples was used for thyroid function test (TFT) which measured the levels of TSH, triiodothyronine (T3) and thyroxine (T4) by chemiluminescence immunoassay (CLIA). The reference range for TSH, T3 and T4 were as follows, TSH: 0.4-4mIU/ml, T3: 70-170ng/dl, T4: 4.5-12.5mg/dl.

scholarly journals HUBUNGAN ANTARA USIA IBU HAMIL DENGAN RESIKO TERJADINYA KELAHIRAN SINDROMA DOWN

EGALITA ◽  
2012 ◽  
Author(s):  
Ana Rahmawati
Keyword(s):  
Down Syndrome ◽  
Developmental Disorder ◽  
Chromosome Structure ◽  
Chromosomal Abnormalities ◽  
Chromosome 21 ◽  
Oral Disease ◽  
Hormone Deficiency ◽  
Medical Problems ◽  
Live Births ◽  
Chromosomal Disorder

<p>Down syndrome is a genetic disease caused by a chromosomal disorder. It is the most common chromosomal abnormality occurs in live births (1/900 ). The characteristics or clinical sign of Down Syndrome is mental retardation, usually have short stature and has a crease of the eye like Mongolian race,nose wide and flat,rounded face, mouth always open, both nostrils wide apart. Down syndrom often also have medical problems<br />such as the congenital heart disease, growth hormone deficiency, thyroid disease, obesity, oral disease, leukemia, hearing impairment, chronic tonsilitis, developmental disorder of speech, language,intelligibility etc. There are two kinds of chromosomal abnormalities mechanism in Down Syndrome. The first is the change in chromosome structure/translocation, the second is nondisjunction or failed to split on chromosome 21 upon the formation of gamete cells parents. Down Syndrome is associated with maternal age occurs because of nondisjunction. Some of the research data reveal an association between the age of mother during pregnancy with the risk of Down Syndrome births.</p><p>Sindroma Down adalah penyakit genetik yang disebabkan karena gangguan kromosom. Merupakan abnormalitas kromosom yang paling sering terjadi pada kelahiran hidup ( 1/900 kelahiran). Ciri-ciri atau tanda klinis sindroma Down adalah keterbelakangan mental, biasanya memiliki tubuh yang pendek, hidung lebar dan datar, wajah membulat, mulutselalu terbuka,kedua lubang hidung lebar, memiliki lipatan mata seperti yang dimiliki oleh ras Mongolia. Sindroma Down seringkali juga memiliki masalah-masalah kesehatan seperti penyakit jantung kongenital, defisiensi hormon pertumbuhan, penyakit tiroid, kegemukan, gangguan kesehatan mulut, leukemia,gangguan pendengaran, tonsilitis kronik, gangguanperkembangan bahasa,bicara, kecerdasan dan lain-lain. Terdapat dua macam mekanisme terjadinya kelainan kromosom pada sindroma Down, pertama yaitu karena adanya perubahan struktur kromosom/ translokasi, kedua yaitu terjadi karena nondisjunction atau gagal berpisah kromosom21 pada saat pembentukan sel gamet pada orangtuanya. Sindroma Down yang dihubungkan dengan faktor usia ibu hamil adalah sindroma Down yang terjadi karena nondisjunction. Beberapa data penelitian mengungkapkan adanya keterkaitan antara usia ibu saat hamil dengan resiko terjadinya kelahiran sindroma Down.<br /><br /><br /></p>

FACTORS ASSOCIATED WITH DOWN SYNDROME INCIDENCE IN BATAM CITY STATE SPECIAL SCHOOL.

2021 ◽  
Vol 11 (2) ◽  
pp. 33
Author(s):  
Mariaman Tjendera ◽  
Siti Iqbalwanty
Keyword(s):  
Down Syndrome ◽  
Chromosomal Abnormalities ◽  
Univariate Analysis ◽  
Genetic Material ◽  
Sampling Technique ◽  
Chromosome 21 ◽  
Special School ◽  
Factors Associated ◽  
Mother’S Age ◽  
City State

Background : Down Syndrome is a type of mental retardation caused by genetic material on chromosome 21. This syndrome can occur due to a process called nondisjunction or failure to separate. The purpose of this study was to determine the description of the factors associated with the incidence of Down Syndrome in Batam City State Special School. Method :The research design was carried out descriptively. The sampling technique was total sampling, with a sample size of 200 students. The univariate analysis is presented in the frequency distribution table. Result :The results showed that the factors associated with the incidence of Down syndrome were 184 children (92.0%) who did not have Down syndrome, 20 people (10.0%), the mother's age> 35 years. conclusion : The conclusion is that the majority is in the factor of maternal age. The suggestion of this research is that it can be used as input for more intensive counseling to the public about the factors that will cause Down syndrome by paying attention to the lifestyle of good mothers and fathers. So that it can be detected early and can reduce chromosomal abnormalities in the incidence of Down syndrome.

scholarly journals The kariotype variability in children with Down syndrome from the Odesa region

2021 ◽  
Vol 23 (1) ◽  
pp. 77-82
Author(s):  
N. V. Kulbachuk ◽  
S. V. Matviiuk ◽  
S. V. Bilokon ◽  
O. L. Sechnyak
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Chromosomal Abnormalities ◽  
Normal Karyotype ◽  
Chromosome 9 ◽  
Chromosome 21 ◽  
Chromosome 1 ◽  
Racial Groups ◽  
Chromosome 2 ◽  
Mosaic Form

The aim of the work is to analyze the frequency of cytogenetic variants of Down syndrome among patients in Odesa and the region, as well as to identify combined karyotype anomalies. Materials and methods. Studies were conducted between 2013–2018 years in Odesa Specialized Medical Genetic Center. The experimental group was formed of patients with cytogenetically confirmed Down syndrome. Chromosomes were painted according to GTG method and identified according to ISCN 2013. Results. Among patients with Down syndrome, in 93.9 % of cases complete trisomy 21 was observed, the translocation form was in 3.7 %, and the mosaic form was in 2.4 %. Similar results were revealed in the analysis of populations belonging to different ethnic and racial groups. Complete trisomy 21 was accompanied by chromosome rearrangements of other chromosomes or additional modifications of chromosome 21. Changes in the heterochromatin in chromosome 9 were more frequently observed. In total, 5.5 % of examined karyotypes were found with additional heterochromatin in both arms of chromosome 1 and in the long arm of chromosome 21. An increase in the size of satellites in chromosomes 14, 15 and more often 21, as well as the appearance of additional satellites in chromosome 2 represented 3.6 % of the total examined karyotypes. A deletion on chromosome 6 involved in translocation with chromosome 13 also was found. Translocation forms included Robertsonian translocations involving chromosomes 21 and 21, 14 and 21, as well as translocations involving chromosomes 21 and 21, 21 and 22. Patients with a mosaic form of the disease had two cell lines: with a normal karyotype 3 (15–67 % of the studied cells) and with complete trisomy 21 without additional chromosomal abnormalities (33–85 % of the studied cells). Conclusions. Among patients with cytogenetically confirmed diagnosis of Down syndrome, the ratio of the main variants was similar to many populations studied. At the same time, additional changes in the karyotype were identified which can either be a variant of the norm or aggravate the course of the disease. This requires further studies of the disease course in such patients.

SERUM THYROTROPHIN AND THE RESPONSE TO THYROTROPHIN RELEASING HORMONE IN SYMPTOMLESS AUTOIMMUNE THYROIDITIS AND IN BORDERLINE AND OVERT HYPOTHYROIDISM

1974 ◽  
Vol 75 (2) ◽  
pp. 274-285 ◽  
Author(s):  
A. Gordin ◽  
P. Saarinen ◽  
R. Pelkonen ◽  
B.-A. Lamberg
Keyword(s):  
Autoimmune Thyroiditis ◽  
Elevated Serum ◽  
Mean Value ◽  
Primary Hypothyroidism ◽  
Overt Hypothyroidism ◽  
Thyrotrophin Releasing Hormone ◽  
Releasing Hormone ◽  
The Mean ◽  
The Individual ◽  
Serum Tsh

ABSTRACT Serum thyrotrophin (TSH) was determined by the double-antibody radioimmunoassay in 58 patients with primary hypothyroidism and was found to be elevated in all but 2 patients, one of whom had overt and one clinically borderline hypothyroidism. Six (29%) out of 21 subjects with symptomless autoimmune thyroiditis (SAT) had an elevated serum TSH level. There was little correlation between the severity of the disease and the serum TSH values in individual cases. However, the mean serum TSH value in overt hypothyroidism (93.4 μU/ml) was significantly higher than the mean value both in clinically borderline hypothyroidism (34.4 μU/ml) and in SAT (8.8 μU/ml). The response to the thyrotrophin-releasing hormone (TRH) was increased in all 39 patients with overt or borderline hypothyroidism and in 9 (43 %) of the 21 subjects with SAT. The individual TRH response in these two groups showed a marked overlap, but the mean response was significantly higher in overt (149.5 μU/ml) or clinically borderline hypothyroidism (99.9 μU/ml) than in SAT (35.3 μU/ml). Thus a normal basal TSH level in connection with a normal response to TRH excludes primary hypothyroidism, but nevertheless not all patients with elevated TSH values or increased responses to TRH are clinically hypothyroid.

Cytogenetic, Molecular and FISH Analysis of an Isodicentric Chromosome 21 idic(21)(q22.3) in a Mildly-Affected Patient with Down Syndrome

2007 ◽  
Vol 7 (3) ◽  
pp. 215-218 ◽  
Author(s):  
Frenny J Sheth ◽  
Uppala Radhakrishna ◽  
Michael A Morris ◽  
Jean-Louis Blouin ◽  
Jayesh J Sheth ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Chromosome 21 ◽  
Fish Analysis ◽  
Affected Patient ◽  
Isodicentric Chromosome

scholarly journals A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Chunyan Jin ◽  
Zhiping Gu ◽  
Xiaohan Jiang ◽  
Pei Yu ◽  
Tianhui Xu
Keyword(s):  
Down Syndrome ◽  
Pregnant Woman ◽  
Prenatal Testing ◽  
Chromosome 21 ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Serological Screening ◽  
Partial Duplication ◽  
Her Family ◽  
Clinical Consequences

Abstract Background Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. Extensive studies have focused on the identification of the Down Syndrome Critical Region (DSCR). We aim to provide evidence that duplication of 21q21.1-q21.2 should not be included in the DSCR and it has no clinical consequences on the phenotype. Case presentation Because serological screening was not performed at the appropriate gestational age, noninvasive prenatal testing (NIPT) analysis was performed for a pregnant woman with normal prenatal examinations at 22 weeks of gestation. The NIPT results revealed a 5.8 Mb maternally inherited duplication of 21q21.1-q21.2. To assess whether the fetus also carried this duplication, ultrasound-guided amniocentesis was conducted, and the result of chromosomal microarray analysis (CMA) with amniotic fluid showed a 6.7 Mb duplication of 21q21.1-q21.2 (ranging from position 18,981,715 to 25,707,009). This partial duplication of 21q21.1-q21.2 in the fetus was maternally inherited. After genetic counseling, the pregnant woman and her family decided to continue the pregnancy. Conclusion Our case clearly indicates that 21q21.1-q21.2 duplication is not included in the DSCR and most likely has no clinical consequences on phenotype.

scholarly journals Stress Responses in Down Syndrome Neurodegeneration: State of the Art and Therapeutic Molecules

Biomolecules ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 266
Author(s):  
Chiara Lanzillotta ◽  
Fabio Di Domenico
Keyword(s):  
Down Syndrome ◽  
Stress Response ◽  
Stress Responses ◽  
Redox Balance ◽  
Antioxidant Response ◽  
Chromosome 21 ◽  
Therapeutic Approaches ◽  
Genomic Disorder ◽  
Therapeutic Molecules ◽  
Early Alzheimer’S Disease

Down syndrome (DS) is the most common genomic disorder characterized by the increased incidence of developing early Alzheimer’s disease (AD). In DS, the triplication of genes on chromosome 21 is intimately associated with the increase of AD pathological hallmarks and with the development of brain redox imbalance and aberrant proteostasis. Increasing evidence has recently shown that oxidative stress (OS), associated with mitochondrial dysfunction and with the failure of antioxidant responses (e.g., SOD1 and Nrf2), is an early signature of DS, promoting protein oxidation and the formation of toxic protein aggregates. In turn, systems involved in the surveillance of protein synthesis/folding/degradation mechanisms, such as the integrated stress response (ISR), the unfolded stress response (UPR), and autophagy, are impaired in DS, thus exacerbating brain damage. A number of pre-clinical and clinical studies have been applied to the context of DS with the aim of rescuing redox balance and proteostasis by boosting the antioxidant response and/or inducing the mechanisms of protein re-folding and clearance, and at final of reducing cognitive decline. So far, such therapeutic approaches demonstrated their efficacy in reverting several aspects of DS phenotype in murine models, however, additional studies aimed to translate these approaches in clinical practice are still needed.

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