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

Author(s):  
Mariaman Tjendera ◽  
Siti Iqbalwanty

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.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 88-88
Author(s):  
Anthony V Moorman ◽  
Hannah M Ensor ◽  
Lucy Chilton ◽  
Sue M Richards ◽  
Sally E Kinsey ◽  
...  

Abstract Abstract 88 Chromosomal abnormalities in childhood ALL are important disease markers and predictors of prognosis. Virtually all modern protocols recommend that patients with t(9;22), MLL translocations and haploidy (<30 chromosomes) receive intensive therapy. However, there is less consensus regarding the prognostic relevance of other abnormalities, e.g. t(1;19), intrachromosomal amplification of chromosome 21 (iAMP21), dic(9;20), abnormal 9p, CDKN2A deletions and low hypodiploidy (30–39 chromosomes). Furthermore, the long term prognosis and independent effect of some abnormalities, especially t(12;21)/ETV6-RUNX1, has been questioned. We investigated the prognostic relevance of cytogenetics among 1,934 children treated on MRC ALL97. Patients with t(9;22), haploidy, low hypodiploidy and those aged <2yrs with a MLL translocation were treated as high risk. In order to focus on the intrinsic aggressiveness of the leukemic clone, we used relapse-free survival (RFS) as our primary endpoint. In addition, we constructed a cytogenetic based risk index to assess the utility of cytogenetics as a whole in predicting relapse. The 5yr RFS of the whole cohort was 81% (95% CI 79–82%) with a median follow-up of 8.2yrs. Univariate analysis revealed 5 abnormalities that were significantly associated with relapse: t(12;21) Hazard ratio (HR)=0.50 (95% CI 0.36, 0.68); high hyperdiploidy (51–65 chromosomes): 0.58 (0.45, 0.74); iAMP21: 5.51 (3.57, 8.50); t(9;22): 3.31 (2.06, 5.32); other MLL translocations [not t(4;11)]: 2.70 (1.39, 5.25); and 17p loss [del(17p)]: 2.13 (1.35, 3.34) (all p<0.003). Moreover, all abnormalities, except other MLL translocations, retained their significance in multivariate analysis. The following abnormalities were not predictive of relapse: t(4;11), t(1;19), dic(9;20), CDKN2A deletions, −7 and abnormal 9p. There were too few haploid and low hypodiploid patients to be formally tested but 10/18 (56%) relapsed. Further analysis of high hyperdiploid patients revealed that there was no difference in RFS for those with (n=218) and without (n=200) triple trisomy (+4, +10 and +17) [HR=0.81 (0.49, 1.34), p=0.4]. However, high hyperdiploid patients with a +18 (n=396) had a lower risk of relapse [HR=0.44 (0.26, 0.74) (p=0.002)] than other patients (n=86). Among 369 t(12;21) patients 47 (13%) suffered a relapse. The timing of these relapses was different to the rest of the cohort with fewer early relapses (within 6 months of the end of treatment) in the t(12;21) cohort: 9/47 (19%) versus 170/285 (59%), p<0.001. The 5yr and 7yr cumulative risk of relapse for t(12;21) patients was 11% (95% CI 8–15%) and 13% (9–17%) respectively compared to 24% (22–28%) and 27% (24–30%), respectively for other patients. A total of 54/1596 (3.4%) patients had del(17p) by cytogenetics: i(17q) (n=18), del(17)(p) (n=7), monosomy 17 (n=8) and unbalanced translocations (n=21). It is a secondary abnormality co-existing with high hyperdiploidy (n=21), t(12;21) (n=6), MLL translocations (n=2) and t(9;22) (n=1). Overall, these patients had an inferior RFS (64%, (49%–75%), p=0.004). However, the presence of del(17p) did not abrogate the good outcome of patients with t(12;21) and high hyperdiploidy [HR=1.70 (0.75, 3.87) p=0.206] but did represent a strong marker of relapse among other patients [HR=2.96 (1.68, 5.20) p<0.001]. We classified 1,733 patients into three cytogenetic risk groups: good (GRG) [t(12;21), high hyperdiploidy] n=928 (54%); poor (PRG) [t(9;22), t(4;11), other MLL, t(17;19), haploidy, low hypodiploidy, iAMP21, del(17p)] n=153 (9%); standard (SRG) [all other cases] n=652 (38%). The 5 year RFS were GRG 88% (85–90%), SRG 79% (75–82%) and PRG 49% (40–57%). In multivariate analysis, patients in the GRG or PRG were less or more likely to relapse compared to patients in the SRG: HR=0.65 (0.50–0.83), p=0.001 and HR=2.67 (2.01–3.53), p<0.001, respectively. Moreover, there was a strong correlation between cytogenetic risk group and the BFM risk classification of relapses, based on immunophenotype, timing and site of relapse. Among GRG patients who relapsed, only 11/130 (8.5%) suffered a high risk relapse; whereas 36/76 (47%) PRG patients who relapsed had a high risk relapse. These data clarify the prognostic relevance of several chromosomal abnormalities in the context of a modern childhood ALL therapy and provide further evidence that cytogenetics is a powerful and independent indicator of relapse risk. Disclosures: No relevant conflicts of interest to declare.


EGALITA ◽  
2012 ◽  
Author(s):  
Ana Rahmawati

<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>


2020 ◽  
Author(s):  
Jesús Manuel Pérez-Villareal ◽  
Katia Aviña-Padilla ◽  
Evangelina Beltrán López ◽  
Alma Marlene Guadrón-Llanos ◽  
Esther López-Bayghen ◽  
...  

AbstractDown syndrome (DS), or Trisomy 21 (Ts21), is the most common chromosomal survival aneuploidy. Nevertheless, people with DS have compromised health, and the increase in their life expectancy further heightens the risk of developing chronic degenerative diseases such as obesity, dyslipidemias and diabetes mellitus associated with higher morbidity, and mortality for cardiovascular disease from an early age. DS is also accompanied by a higher risk of neurodegeneration. The extra genetic material that characterizes DS causes an imbalance in the genetic dosage, including overexpression of miR-155 and Let-7c miRNAs, both associated with cognitive impairment and dementia in adults. The dynamics of expression of their putative target genes in the early stages of the development of DS and their clinical associations, however, remain to be ascertained. This study aimed to evaluate the relative expression of miR-155 and Let-7c in young and adult individuals with DS and its possible association with biochemical indicators of lipid metabolism. The anthropometric, clinical, biochemical, and gene expression features of miR-155 and Let-7c were analyzed in a population of 52 control and 50 DS subjects divided into groups of 20 years of age or younger and 21 years or older. Expression changes for miR-155 were not significant. Nevertheless, a negative correlation for HDL-Cholesterol concentrations and miR-155 expression was identified. Notably, Let-7c was overexpressed in DS from young and old ages. Overall, our results suggest that Let-7c is related from early stages to cognitive impairment in DS, while a similar role of miR-155 in late stages could be mediated by alterations in lipid metabolism. Further studies with both miRNAs will shed light on their potential as therapeutic targets to prevent or delay cognitive impairment in DS.


2020 ◽  
Vol 7 (2) ◽  
pp. 21
Author(s):  
Dora Samaria ◽  
Lima Florensia

<p>Exclusive breastfeeding is providing nutrition only breast milk for babies at the age of 0-6 months. The coverage of exclusive breastfeeding in Banten Province reached 61.6% in 2016. The value is still far from the national target of 80%. Infants who do not get exclusive breastfeeding are at risk of experiencing malnutrition in infancy. This study aims to identify the factors of exclusive breastfeeding in the village of Kalanganyar, Banten. This research used descriptive analytic design. The research sample was taken using a purposive sampling technique which included 96 nursing mothers who had babies aged 6-24 months in Kalanganyar Village. The data collected was processed using univariate analysis to obtain a preliminary picture of exclusive breastfeeding in Kalanganyar Village. The results showed that the factors identified were, mother's age, education, occupation, type of labor, parity, breastfeeding experience, income, exclusive breastfeeding education, knowledge, attitude, motivation, and breastfeeding facilities. The researchers recommend further research with a design that can identify the relationship between these factors and the use of multivariate analysis to determine the factors that most influence the exclusive breastfeeding.</p><p><strong>BAHASA INDONESIA ABSTRAK: </strong>ASI eksklusif adalah memberikan nutrisi hanya ASI bagi bayi pada usia 0-6 bulan. Cakupan pemberian ASI eksklusif di Provinsi Banten mencapai 61,6% pada Tahun 2016. Nilai tersebut masih jauh dari target nasional yaitu sebesar 80%. Bayi yang tidak mendapatkan ASI Eksklusif berisiko mengalami gizi buruk pada masa balita. Penelitian ini bertujuan untuk mengidentifikasi faktor-faktor pemberian Air Susu Ibu (ASI) Eksklusif di Desa Kalanganyar, Banten. Penelitian ini menggunakan desain deskriptif analitik dengan instrumen penelitian berupa ceklist. Sampel penelitian diambil menggunakan teknik purposive sampling meliputi 96 orang ibu menyusui yang memiliki bayi usia 6-24 bulan di Desa Kalanganyar. Data yang terkumpul diolah menggunakan analisis univariat untuk mendapatkan gambaran praktif pemberian ASI Eksklusif di Desa Kalanganyar. Hasil penelitian menunjukkan faktor-faktor yang berhasil diidentifikasi yaitu, usia ibu, pendidikan, pekerjaan, jenis persalinan, paritas, pengalaman menyusui, penghasilan, edukasi ASI eksklusif, pengetahuan, sikap, dan motivasi ibu. Peneliti merekomendasikan agar dilakukan penelitian lanjut dengan desain yang dapat mengidentifikasi hubungan antar faktor-faktor tersebut serta penggunaan analisis multivariat untuk menentukan faktor yang paling berpengaruh terhadap pemberian ASI eksklusif.</p>


2019 ◽  
Vol 6 (2) ◽  
pp. 904
Author(s):  
Vijitha Viswambharan ◽  
Mahesh M. Vasu ◽  
Ismail Thanseem ◽  
Suresh A. Poovathinal ◽  
Ayyappan Anitha

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.


PEDIATRICS ◽  
1994 ◽  
Vol 93 (5) ◽  
pp. 855-859
Author(s):  

These guidelines are designed to assist the pediatrician in caring for the child in whom the diagnosis of Down syndrome has been confirmed by karyotype. Although the pediatrician's initial contact with the child is usually during infancy, occasionally the pregnant woman who has been given the prenatal diagnosis of Down syndrome will be referred for advice. Therefore, these guidelines offer advice for this situation as well. Children with Down syndrome have multiple malformations and mental retardation due to the presence of extra genetic material from chromosome 21. Although the phenotype is variable, usually there is enough consistency to enable the experienced clinician to suspect the diagnosis. Among the more common physical features are hypotonia, small brachycephalic head, epicanthic folds, flat nasal bridge, upward slanting palpebral fissures, Brushfield spots, small mouth, small ears, excess skin at the nape of the neck, single transverse palmar crease, and short fifth finger with clinodactyly. A wide space, often with a deep fissure, between the first and second toes is also common. The degree of mental retardation is variable, ranging from mild (IQ, 50 to 70) to moderate (IQ, 35 to 50), and only occasionally to severe (IQ, 20 to 35). There is an increased risk of congenital heart disease (50%); leukemia (&lt;1%); deafness (75%); serous otitis media (50% to 70%); Hirschsprung disease (&lt;1%); gastrointestinal atresias (12%); eye disease (60%), including cataracts (15%) and severe refractive errors (50%); acquired hip dislocation (6%); and thyroid disease (15%). Social quotient may be improved with early intervention techniques.


2021 ◽  
Vol 23 (1) ◽  
pp. 77-82
Author(s):  
N. V. Kulbachuk ◽  
S. V. Matviiuk ◽  
S. V. Bilokon ◽  
O. L. Sechnyak

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.


2018 ◽  
Vol 1 (2) ◽  
pp. 58
Author(s):  
Setia Budi ◽  
Ria Dila Syahfitri

The rate of stroke incidence is about 200 per 100,000 people throughout the world. This study aims to determine the Relation Suffer Stroke With Independence Level In Neurology Polyclinic TK II DR Ak Gani Palembang Year Hospital 2017. The research method used is descriptive quantitative with cross sectional design that is done by interviewing techniques with questionnaires on 42 respondents with Accidental sampling technique. This research was conducted in August 2017. Data analysis used is univariate data analysis and bivariate data analysis with one way anova test result. The results of univariate analysis showed that the duration of the respondents suffering from stroke was between 2.10 years to 3.38 years. Also found that most respondents were at the level of independence f; independent, except bathing, dressing, moving, and one other function with a total of 12 respondents. The results showed that there was a significant relationship between the long suffering stroke with the level of independence with the value of p value 0.025. For that the need for rehabilitation to patients and families of patients in order to help improve the independence of stroke patients in doing their daily activities. Keywords : Long Suffer Stroke, Level of Independence


2019 ◽  
Vol 11 (1) ◽  
pp. 1-8
Author(s):  
Desi Desi ◽  
Dary Dary ◽  
Fetty Yublika Pasole

Kepuasan kerja menjadi masalah yang cukup menarik dan penting, karena terbukti memiliki pengaruh yang besar bagi individu maupun perusahan. Kepuasan kerja merupakan suatu sikap seseorang terhadap pekerjaan yang berhubungan dengan situasi kerja, kerja sama antara karyawan, imbalan yang diterima dalam kerja, dan hal-hal yang menyangkut fisik dan psikologis. Tujuan penelitian ini untuk mengidentifikasi kepuasan kerja perawat di bangsal medikal bedah. Penelitian ini menggunakan pendekatan kuantitatif dengan jenis penelitian deskriptif. Adapun teknik analisa data dalam penelitian ini dengan analisa univariat untuk mendeskripsikan karekteristik dari variabel yang ada. Teknik pengambilan sampel menggunakan penyebaran kuesioner kepada perawat yang bekerja di rumah sakit tertentu di Kabupaten Timur Tengah Selatan dan Kota Kupang, sampel yang di ambil berjumlah 89 sampel. Hasil yang didapat dari penelitian ini rata-rata kepuasan kerja perawat berada pada kategori netral yang artinya perawat merasa apa yang sudah diterima sesuai dengan pekerjaan yang sudah mereka lakukan hal ini dilihat dari Sembilan kategori yang di telliti yaitu gaji, supervisi, tunjangan tambahan, penghargaan, kondisi kerja, promosi, sifat kerja dan komunikasi kecuali rekan kerja. Saran untuk peneiliti kedepannya agar dapat menggunakan variabel yang lain seperti well-being terhadap kepuasan kerja perawat yang bekerja di rumah sakit.   Kata kunci : kepuasan kerja, perawat   IDENTIFICATION OF NURSE WORK SATISFACTION THAT WORKED IN THE MEDICAL SURGERY OF SURGERY   ABSTRACT Job satisfaction is a problem that is quite interesting and important, because it has proven to have a great influence for individuals and for companies. Job satisfaction is a person's attitude towards work related to work situations, cooperation between employees, rewards received in work, and matters relating to physical and psychological. The purpose of this study was to identify job satisfaction of nurses in the surgical medical ward. This study uses a quantitative approach with a type of descriptive research. The data analysis techniques in this study were carried out by univariate analysis to describe the characteristics of the variables. The sampling technique used questionnaires to nurses who worked in certain hospitals in South Middle East District and Kupang City, the samples taken were 89 samples. . The results obtained from this study mean that the average job satisfaction of certain hospital nurses in East Tengah Selatan District and Kupang City is in the neutral category, which means nurses feel that what they have received is in accordance with the work they have done. telliti namely salary, supervision, additional benefits, rewards, working conditions, promotions, nature of work and communication except coworkers. Suggestions for future researchers to be able to use other variables such as well-being towards job satisfaction for nurses working in hospitals.   Keywords:  job satisfaction, nurse  


Sign in / Sign up

Export Citation Format

Share Document