scholarly journals Distribusi frekuensi missing teeth pada anak sindroma Down di Yayasan POTADSFrequency distribution of missing teeth in Down syndrome children at POTADS Foundation

2019 ◽  
Vol 31 (1) ◽  
Author(s):  
Nadiya Mujaheda Alwafa ◽  
Yetty Herdiyati ◽  
Inne Suherna Sasmita ◽  
Williyanti Suwondo
Keyword(s):  
Down Syndrome ◽  
Frequency Distribution ◽  
Research Method ◽  
Tooth Loss ◽  
Soft Tissues ◽  
Chromosome 21 ◽  
Missing Teeth ◽  
Children With Down Syndrome ◽  
Survey Technique ◽  
Descriptive Survey

Pendahuluan: Missing teeth adalah suatu keadaan berupa hilangnya gigi karena adanya kegagalan perkembangan gigi yang dapat menyebabkan berkurangnya fungsi pengunyahan, fonetik, estetika, serta munculnya masalah pada jaringan keras dan lunak di sekitarnya. Gejala missing teeth ditemukan pada anak Sindroma Down yaitu anak yang memiliki kromosom berlebih (trisomi 21) mengakibatkan kelainan dan keterlambatan pertumbuhan dan perkembangan baik fisik dan mental. Tujuan penelitian adalah untuk mengetahui distribusi frekuensi missing teeth pada anak Sindroma Down di Yayasan POTADS. Metode: Jenis penelitian deskriptif dengan teknik survei. Teknik pengambilan sampel yang digunakan adalah total sampling yaitu seluruh anak Sindroma Down di Yayasan POTADS yang datang ke RSGM FKG Unpad pada bulan Oktober 2017 dan Februari 2018. Hasil: Sebanyak 48,07% anak Sindroma Down yang diperiksa mengalami missing teeth dengan tipe hipodonsia sebesar 88%. Simpulan: Distribusi frekuensi missing teeth terjadi pada hampir setengah populasi anak Sindroma Down di Yayasan POTADS.Kata kunci: Missing teeth, hipodonsia, sindroma Down. ABSTRACTIntroduction: Missing teeth is a condition when tooth loss caused by failure development of dental which can lead to decreased function of mastication, phonetics, aesthetics, and become problems in the surrounding hard and soft tissues. Missing teeth founded in children with Down Syndrome which had extra copied of chromosome 21 (trisomy 21) resulting an abnormalities and delays in both physical and mental growth and development.  The purpose of this research was to find out the frequency distribution of missing teeth in Down Syndrome children at POTADS Foundation. Methods: Research method was conducted using descriptive survey technique. The samples were using total sampling approach all children with Down Syndrome at POTADS foundation that came to RSGM FKG Unpad in October 2017 and February 2018. Result: 48,07% of pupolation had missing teeth and 88% of them were hypodontia type of missing teeth Conclusion: Frequency distribution of  missing teeth almost half population of Down Syndrome Children at POTADS Foundation.Keywords: Missing teeth, hypodontia, Down Syndrome.

scholarly journals Compliance evaluation of removable space maintainer or space regainer usage

2012 ◽  
Vol 24 (1) ◽  
Author(s):  
Revanti Ramadhani ◽  
Syarief Hidayat ◽  
Risti Saptarini Primarti
Keyword(s):  
Research Method ◽  
Tooth Loss ◽  
Sampling Technique ◽  
Permanent Teeth ◽  
Primary Tooth ◽  
Dental Arch ◽  
Survey Technique ◽  
Dental Hospital ◽  
Space Maintainer ◽  
Descriptive Survey

Premature loss could cause a problem with the tooth arrangement or the dental arch size. A space left by the primary tooth loss could cause migration of the adjacent teeth. As a result, space will be narrowed and undermined the eruption of the permanent teeth. The success of the space maintainer or space regainer usage due to the premature loss marked by space for the replacement of the permanent teeth. The purpose of this research was to evaluate the compliance of children in wearing a space maintainer or space regainer after insertion at Pedodontics Installation of Faculty of Dentistry Universitas Padjadjaran Dental Hospital, Bandung, Indonesia. The research method was descriptive survey technique. The sample consisted of 30 patients selected using the total sampling technique. Data were obtained with a questionnaire and statistically analyzed. The results showed that majority of the children uses the removable space maintainer or the space regainer daily was only about 23,3% overall. Most of the children only use the removable space maintainer or the space regainer for sometimes. The research concluded that the low rate of pedodontic patients compliance at Pedodontics Installation of Faculty of Dentistry Universitas Padjadjaran Dental Hospital in the usage of the removable space maintainer or the space regainer was usually caused by pain or discomfort. This fact was evidence of a low awareness of parents in preventing malocclusion to their children.

scholarly journals DYRK1A Is a Therapeutic Target in B-ALL in Children with Down Syndrome

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 2721-2721
Author(s):  
Paul Lee ◽  
Rahul Bhansali ◽  
Malini Rammohan ◽  
Nobuko Hijiya ◽  
Shai Izraeli ◽  
...  
Keyword(s):  
Cell Cycle ◽  
Down Syndrome ◽  
Cell Division ◽  
B Cells ◽  
Therapeutic Target ◽  
Genetic Alterations ◽  
Chromosome 21 ◽  
Cyclin D3 ◽  
Children With Down Syndrome ◽  
Stat Signaling

Abstract Children with Down syndrome have a spectrum of associated disorders including a 20-fold increased incidence of B-cell acute lymphoblastic leukemia (DS-ALL). Although a number of genetic alterations have been found in this ALL subtype, such as activating mutations in JAK2 and overexpression of CRLF2, the mechanisms by which trisomy 21 promotes the leukemia are largely unknown. Previous studies have implicated chromosome 21 genes HMGN1 and DYRK1A in both malignant and normal lymphopoiesis. DYRK1A is a member of the dual-specificity tyrosine phosphorylation-regulated kinase family that has been well studied in non-hematopoietic tissues. Its targets include proteins that regulate multiple pathways including cell signaling, cell cycle, and brain development. We have previously shown that DYRK1A is a megakaryoblastic leukemia-promoting gene through its negative regulation of NFAT transcription factors. Furthermore, in studies with a conditional Dyrk1a knock-out mouse, we found that the kinase is required for lymphoid, but not myeloid cell development. In developing lymphocytes, Dyrk1a regulates the cell cycle by destabilizing cyclin D3. Consequently, loss of Dyrk1a resulted in the failure of these cells to switch from a proliferative to quiescent phase for subsequent maturation (Thompson et al. J. Exp. Med. 2015 212:953-70). Despite this deficiency in exiting the cell cycle, Dyrk1a-deficient lymphocytes also exhibit impaired proliferation before undergoing apoptosis. These data reveal a critical role for DYRK1A in lymphopoiesis and suggest that it may be a target for therapeutic intervention. We assayed the activity of the highly selective and potent DYRK1 inhibitor, EHT 1610, in multiple ALL cell lines. EHT 1610 inhibited the growth of Jurkat and MHH-CALL-4 cells with EC50s of 0.83mM and 0.49mM, respectively. Next, we treated primary human ALL blasts with EHT 1610 and the less selective DYRK1A inhibitor harmine. Growth of 16 out of 30 specimens, which included DS-ALL, pre-B ALL, and T-ALL, was sensitive to DYRK1A inhibition at doses between 0.5 and 10mM. Of note, growth of 9 of the 11 of the DS-ALL samples was inhibited by EHT 1610. This result indicates that the increased dosage of DYRK1A in DS samples sensitizes the cells to DYRK1A inhibition. To further study the contributions of DYRK1A to normal and malignant lymphopoiesis, we performed phosphoproteomic analysis on primary murine pre-B cells treated with EHT 1610. After 2 hours of EHT 1610 treatment, the cells were collected and analyzed for changes in the phosphoproteome. Phosphorylation of 36 proteins was significantly altered. Bioinformatics analysis led to the identification of a number of notable pathways that appear to be regulated by DYRK1A including cell cycle, cell division and mitosis, RNA metabolism, and JAK-STAT signaling. Differentially phosphorylated proteins included geminin, which is important in cell division and whose loss enhances megakaryopoiesis, and POLR2M, which is intriguing because DYRK1A phosphorylates the CTD of RNA Pol II and binds chromatin at specific sites in glioblastoma cells. Another interesting target is STAT3, which is phosphorylated by DYRK1A on Ser727, a residue whose phosphorylation is required for maximal STAT3 activation. Treatment of murine pre-B cells with EHT 1610 significantly reduced the level of phosphorylation of Ser727 and Tyr705, suggesting that DYRK1A may provide a priming event for STAT3 activation similar to its priming effect on GSK3b phosphorylation. Consistent with a role for JAK/STAT signaling and STAT3 activity, B-ALL cells were highly sensitive to ruxolitinib therapy. Taken together, our study suggests that DYRK1A is a therapeutic target in DS-ALL and likely functions in part by enhancing JAK/STAT signaling. Disclosures No relevant conflicts of interest to declare.

scholarly journals Disfagia fase oral dan faring pada anak sindrom Down

2018 ◽  
Vol 48 (1) ◽  
pp. 102
Author(s):  
Susyana Tamin ◽  
Elvie Zulka ◽  
Iman Pradana Maryadi ◽  
Rahmanofa Yunizaf
Keyword(s):  
Down Syndrome ◽  
Pediatric Patients ◽  
Partial Trisomy ◽  
Neck Surgery ◽  
Chromosome 21 ◽  
Google Scholar ◽  
Endoscopic Evaluation ◽  
Children With Down Syndrome ◽  
Feeding Difficulty ◽  
Surgery Department

Latar Belakang: Sindrom Down merupakan kelainan kromosom autosomal yang terjadi akibat trisomi seluruh atau sebagian dari kromosom 21, yang terjadi kurang lebih 1 dari 700 kelahiran hidup. Berbagai studi mendapatkan bahwa gangguan makan (feeding difficulty) dan disfagia merupakan masalah yang umum terjadi dan terkadang persisten pada anak sindrom Down. Tujuan: Memaparkan karakteristik kelainan disfagia fase oral dan fase faring yang dapat timbul pada anak dengan sindrom Down menggunakan instrument pemeriksaan Fiberoptic Endoscopic Evaluation of Swallowing (FEES). Laporan kasus: Dilaporkan 8 pasien anak dengan sindrom Down yang didapatkan dari rekam medis pasien sejak Oktober 2016 hingga September 2017, yang dilakukan pemeriksaan FEES di Poli Endoskopi Bronkoesofagologi Departemen Telinga Hidung Tenggorok-Bedah Kepala Leher (THT-KL) Rumah Sakit Dr. Cipto Mangunkusumo. Metode: Pencarian literatur secara terstruktur dilakukan dengan menggunakan Pubmed, ClinicalKey, Cochrane, dan Google scholar, sesuai dengan pertanyaan klinis berupa bagaimana karakteristik disfagia pada pasien anak dengan sindrom Down melalui pemeriksaan FEES. Pemilihan artikel dilakukan berdasarkan kriteria inklusi dan eksklusi. Hasil didapatkan 1 artikel yang relevan. Hasil: Artikel yang didapat merupakan suatu studi retrospektif yang melaporkan gambaran deskriptif karakteristik disfagia pada anak dengan sindrom Down. Kesimpulan: Kelainan anatomis pada sindrom Down berperan pada terjadinya gangguan makan dan disfagia. ABSTRACTBackground: Down syndrome is an autosomal chromosomal disorder caused by entire or partial trisomy of chromosome 21, which occurs in approximately 1 out of 700 live births. Several studies had found that feeding difficulty and swallowing disorder (dysphagia) are common and persistent problems in children with Down syndrome. Purpose: to describe characteristics of abnormalities that can occur in children with Down syndrome using the Fiberoptic Endoscopic Evaluation of Swallowing (FEES) examination. Case report: 8 Pediatric patients with Down syndrome, obtained from medical record of FEES examination in Endoscopic Bronchoesophagology Clinic of Otorhinolaryngology-Head and Neck Surgery Department (ENT-HNS) Cipto Mangunkusumo Hospital, from October 2016 up to September 2017. Method: A structured literature search was performed using Pubmed, ClinicalKey, Cochrane, and Google scholar, according to clinical question of how the characteristics of dysphagia in pediatric patients with Down syndrome through FEES examination? The selection of articles is based on inclusion and exclusion criteria which resulted in 1 relevant paper. Results: The article obtained was a retrospective study reporting descriptive characteristics of dysphagia in children with Down syndrome. Conclusion: Anatomical abnormalities in children with Down syndrome play a role in eating disorders and dysphagia. Keywords:

scholarly journals COVID-19 and Children With Down Syndrome: is There Any Real Reason to Worry? Case Report

2020 ◽  
Author(s):  
Ahmad Kantar ◽  
Angelo Mazza ◽  
Ezio Bonanomi ◽  
Marta Odoni ◽  
Manuela Seminara ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Risk Factor ◽  
Chromosome 21 ◽  
Cytokine Storm ◽  
Case Presentation ◽  
Biological Condition ◽  
Children With Down Syndrome ◽  
Number Of Children ◽  
Antiviral Responses ◽  
Cardiovascular Anomalies

Abstract Background: Down syndrome (DS) is characterised by a series of immune dysregulations, of which interferon hyperreactivity is a key one as it is responsible for surging antiviral responses and probable initiation of an amplified cytokine storm. This biological condition is attributed to immune regulators encoded in chromosome 21. Moreover, DS is characterised by the coexistence of cardiovascular and respiratory anomalies as well as obesity, which constitutes a risk factor for SARS-CoV-2 respiratory disease (COVID-19).Case presentation: Of the total number of children 55 admitted to paediatric wards in Bergamo in the period between February to May 2020 for COVID-19 infection, we present 2 children with DS and confirmed COVID-19 diagnosis that had a severe course. In addition, both cases had one or more comorbidities, being cardiovascular anomalies, obesity, and/or OSA.Conclusions: Our observations indicate the need to consider children with DS a population at a risk of severe COVID-19.

scholarly journals ANALISIS PERBEDAAN JUMLAH NEUTROFIL ANTARA ANAK DOWN SYNDROME DAN ANAK SEHAT - Studi Pada SLB-C Widya Bhakti Semarang dan Mi Mirfa’ul Ulum

2017 ◽  
Vol 4 (1) ◽  
pp. 27
Author(s):  
Riezqia Ayu Wulandari ◽  
Sandy Christiono ◽  
Niluh Ringga
Keyword(s):  
Down Syndrome ◽  
Chromosome 21 ◽  
Control Group ◽  
Healthy Children ◽  
Cross Sectional ◽  
Children With Down Syndrome ◽  
Periodontal Infection ◽  
Significant Difference ◽  
The Difference ◽  
Cross Sectional Design

Background: Down syndrome (DS) is a congenital disorder caused by abnormalities of chromosome 21, resulting in migration defect of neutrophils, specifically in GCF as a marker of increasing periodontal infection. This study aimed to analyze the difference in neutrophil numbers between down syndrome and healthy children.Method: This research was an analytic observational with cross sectional design, and divided into two groups. The control group is consisted of healthy children and the other is consisted of down syndrome children. GCF was taken using paper point number 45-50 for 30 seconds, then it smeared into object glass and painted with giemsa staining. Observations was done by light microscopy with 1000 times magnification.Result: The result of studies with p<0.05 was indicating a significant difference of neutrophil numbers between children with down syndrome and the healthy group.Conclusion: This study concluded that there was a difference in neutrophil numbers due to the migration defect of neutrophils in children with down syndrome, that can cause proneness to periodontal infections.

scholarly journals Parents' Behavior Related to Caries Status of Children with Down Syndrome in Surabaya

2021 ◽  
Vol 55 (8) ◽  
Author(s):  
Tania Saskianti ◽  
Ardianti Maartrina Dewi ◽  
Nur Masyitah Iskandar Putri ◽  
Andi Octafianto
Keyword(s):  
Down Syndrome ◽  
Cross Sectional Study ◽  
Chromosome 21 ◽  
Enabling Factors ◽  
Cross Sectional ◽  
Children With Down Syndrome ◽  
Reinforcing Factors ◽  
Spearman’S Correlation ◽  
Very High ◽  
Chromosome Disorder

Background. Down syndrome (DS) is a chromosome disorder due to the presence of all or part of a third copy of chromosome 21 (trisomy 21) caused by a failure in chromosome segregation. Following Riset Kesehatan Dasar (RISKESDAS) in 2013, the number of people with DS in Indonesia increased compared to 2010, with an estimated 924 children with DS in Surabaya. Data regarding caries status in children with DS in Surabaya is limited. Objective. To evaluate parents’ behavior (predisposing, enabling, and reinforcing factors) related to the caries status of children with DS. Methods. This observational analytic cross-sectional study included children aged ≤18 years with DS and parents who were members of the Parents' Association of Children with Down Syndrome (POTADS). Caries status were measured using the DMF-T/def-t score, and parents were asked to fill out a questionnaire. Data were analyzed using Spearman’s correlation test. Result. We included 46 children with DS in this study. The DMF-t / def-t index of children with DS (7.2) was categorized as very high according to WHO. There was a significant relationship between lack of knowledge of parents and caries status in children with DS. Enabling factors and reinforcing factors were not significantly correlated with caries status. Conclusion. Parents' behavior is correlated with the caries status of children with DS. All combination of three factors behavior, including predisposing, enabling and reinforcing, are needed to reduce the number of caries in children with DS.

scholarly journals Comparison of the head circumference measurement between Down syndrome and normal children

2012 ◽  
Vol 24 (2) ◽  
Author(s):  
Nur Hanis Adibah Yahya ◽  
Ratna Indriyanti ◽  
Rudy Hartanto
Keyword(s):  
Down Syndrome ◽  
Head Circumference ◽  
Extra Chromosome ◽  
Mean Value ◽  
Chromosome 21 ◽  
Normal Children ◽  
Cross Sectional ◽  
Children With Down Syndrome ◽  
Value Of Children ◽  
And Gender

Introduction: Growth and development assessment in children is measured by the head circumference measurement or as known as occipital-frontal circumference. In cases of genetic abnormalities such as Down syndrome which is caused by extra chromosome 21, give distinct features in the craniofacial profile, hence the author finds it is useful to observe the changes in their growth, mainly the head circumference. The purpose of this research is to analized comparison between head circumference measurement in children with Down syndrome in Sekolah Luar Biasa-C and normal children, Methods: Type of this research is analytical with surveying technique, using cross sectional studies on 20 children with Down syndrome and 160 normal children 6 to 13 years old. The sample subject. Based on anthropometry landmark on point Glabella to Opisthocranion, measurement is taken using a non-stretchable, flexible measuring tape. Result: There are significant differences between the head circumference of children in both group according to age and gender; except age 6 male, with the mean value of children with Down syndrome compare to normal circumference measurement were smaller 3 to 5 cm behind the normal children in this research. Conclusion: The head circumference of the children with Down syndrome over all from age 6 to 13 years old were smaller than the regular children in same age and same gender.

scholarly journals Dyslipidemia and Superoxide Dismutase Activity in Children with Down Syndrome

1970 ◽  
Vol 30 (3) ◽  
pp. 160-163
Author(s):  
P Goyal ◽  
R Singh ◽  
A Yadav ◽  
AK Dutta ◽  
J Bhattacharjee
Keyword(s):  
Superoxide Dismutase ◽  
Down Syndrome ◽  
Trisomy 21 ◽  
Serum Triglyceride ◽  
Chromosome 21 ◽  
Sod Activity ◽  
Over Expression ◽  
Children With Down Syndrome ◽  
Expression Of Genes ◽  
Significant Difference

Introduction: Down Syndrome (trisomy 21) provides an interesting natural model to study atherosclerosis, since these individuals appear to be protected from plaque formation. Methodology: We assessed the lipid levels, and superoxide dismutase (SOD) activity in 32 clinically diagnosed children of Down syndrome and 34 children matched for age and sex as controls. Results: SOD activity was found to be significantly higher (p=0.004) in children with Down Syndrome (mean=313.7 IU/ml) than in controls (mean140.2 IU/ ml). Significantly higher levels of serum triglyceride (154.7 mg/dl) and VLDL (33.9 mg/dl) were observed in Down Syndrome as compared to healthy controls (119.6 mg/dl and 23.9 mg/dl respectively; p<0.05 for each). However, the two groups did not show any significant difference in levels of serum HDL-C, LDL-C. Conclusion: The raised antioxidant activity of SOD, because of over expression of genes situated non chromosome 21, probably offers some protection against the development of atherosclerosis despite the occurrence of dyslipidemia. Key words: Chromosome 21; Down Syndrome; Trisomy 21; Superoxide dismutase.  DOI: 10.3126/jnps.v30i3.3919J Nep Paedtr Soc 2010;30(3):160-163

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