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Down Syndrome Screening

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https://www.readbyqxmd.com/read/30117650/return-to-work-of-patients-treated-with-spinal-cord-stimulation-for-chronic-pain-a-systematic-review-and-meta-analysis
#1
REVIEW
Maarten Moens, Lisa Goudman, Raf Brouns, Alexis Valenzuela Espinoza, Mats De Jaeger, Eva Huysmans, Koen Putman, Jan Verlooy
BACKGROUND: Chronic pain has a substantial negative impact on work-related outcomes, which underscores the importance of interventions to reduce the burden. Spinal cord stimulation (SCS) efficiently causes pain relief in specific chronic pain syndromes. The aim of this review was to identify and summarize evidence on returning to work in patients with chronic pain treated with SCS. MATERIALS AND METHODS: A systematic literature review was performed including studies from PubMed, EMBASE, SCOPUS, and Web of Science (up till October 2017)...
August 17, 2018: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/30114985/adherence-to-health-management-guidelines-for-children-with-down-s-syndrome-at-the-bustamante-hospital-for-children-jamaica
#2
Keisha Livingstone-Sinclair, Charmaine Scott, Helen Trotman
Health surveillance of children with Down's syndrome may be inadequate. We aimed to assess adherence to health management guidelines at the main paediatric hospital in Jamaica. Ours was a retrospective descriptive study over a five-year period. Data on demographics, co-morbidities, investigations, referrals and interventions were recorded. Of 41 children included in the study, 85% were diagnosed in the neonatal period. Congenital heart disease in 29 (76%) and ophthalmological disorders in 13/24 (54%) were the most common co-morbidities...
August 16, 2018: Tropical Doctor
https://www.readbyqxmd.com/read/30105468/targeted-next-generation-sequencing-of-406-genes-identified-genetic-defects-underlying-congenital-heart-disease-in-down-syndrome-patients
#3
Khalid M Alharbi, Abdelhadi H Al-Mazroea, Atiyeh M Abdallah, Yousef Almohammadi, S Justin Carlus, Sulman Basit
Down syndrome (DS) is the most common autosomal chromosome anomaly. DS is frequently associated with congenital heart disease (CHD). Patients with DS have 40-60% chance of having CHD. It means that CHD in DS is not only due to trisomy 21 and there are some other genetic factors underlying CHD in DS children. In this study, a total of 240 DNA samples from patients were analyzed including 100 patients with CHD only, 110 patients having CHD along with DS and 30 patients with isolated DS. A cardiovascular gene panel consisting of probes for 406 genes was used to screen DNA samples of all 240 patients for mutation identification...
August 13, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/30093948/urinary-proteomics-analysis-based-on-mass-spectrometry-and-identification-of-therapeutic-targets-of-shenkangling-interventions-in-rats-with-adriamycin-nephropathy-using-itraq
#4
Si Ai, Jian Zheng, Cai-Xia Qiu, Xiao-Lu Lu, Xu-Wei Li
OBJECTIVE: The isobaric tags for relative and absolute quantification (iTRAQ) technique for proteomic analysis was employed to identify diagnostic markers and therapeutic targets of Shenkangling intervention or prednisone tablets in rats with adriamycin nephropathy (AN). METHODS: Fifty healthy, clean-grade Sprague-Dawley rats were selected, with 10 rats in the normal group and the remaining 40 rats receiving a tail vein injection of 5.5 mg/kg of adriamycin (ADR) to induce AN...
2018: American Journal of Translational Research
https://www.readbyqxmd.com/read/30044508/periodontal-disease-in-down-s-syndrome-patients-a-retrospective-study
#5
Babette van de Wiel, Marjolein van Loon, Wimke Reuland, Josef Bruers
AIM: The purpose of this study was to assess the periodontal condition of people with Down syndrome (DS). Furthermore, risk factors were identified for the development of periodontitis. METHODS AND RESULTS: Data were collected at the Centre for Special Care Dentistry (CBT) Rijnmond from the records of all 183 registered patients with DS who were 18 years of age on 31 December 2013. Patients were divided into two groups on the basis of their periodontal status: healthy or periodontally compromised...
July 25, 2018: Special Care in Dentistry
https://www.readbyqxmd.com/read/30041617/prospective-observations-study-protocol-to-investigate-cost-effectiveness-of-various-prenatal-test-strategies-after-the-introduction-of-noninvasive-prenatal-testing
#6
So Yeon Kim, Seung Mi Lee, Jong Kwan Jun, You Jung Han, Min Hyoung Kim, Jae-Yoon Shim, Mi-Young Lee, Soo-Young Oh, JoonHo Lee, Soo Hyun Kim, Dong Hyun Cha, Geum Joon Cho, Han-Sung Kwon, Byoung Jae Kim, Mi Hye Park, Hee Young Cho, Hyun Sun Ko, Jeonghoon Ahn, Hyun Mee Ryu
BACKGROUND: Among the non-invasive screening methods for the identification of fetal aneuploidy, NIPT (non-invasive prenatal testing) shows the highest sensitivity and specificity in high-risk pregnancies. Due to the low false positive rate of NIPT, it is assumed that the implementation of NIPT as a primary screening method may reduce the number of invasive fetal tests and result in a similar or lowered cost in the overall detection of Down syndrome. However, most previous studies are based on theoretical economic analysis...
July 24, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/30022564/reliability-of-parent-report-measures-of-behaviour-in-children-with-down-syndrome
#7
A J Esbensen, E K Hoffman, R Shaffer, E Chen, L Patel, L Jacola
BACKGROUND: Behavioural problems are common among children with Down syndrome (DS). Tools to detect and evaluate maladaptive behaviours have been developed for typically developing children and have been evaluated for use among children with intellectual and developmental disabilities. However, these measures have not been evaluated for use specifically in children with DS. This psychometric evaluation is important given that some clinically observed behaviours are not addressed in currently available rating scales...
July 18, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/30016823/number-of-risk-factors-in-down-syndrome-pregnancies
#8
Deana J Hussamy, Christina L Herrera, Diane M Twickler, Donald D Mcintire, Jodi S Dashe
OBJECTIVE:  The objective of this study was to evaluate risk factor prevalence in pregnancies with fetal Down syndrome, in an effort to characterize efficacy of population-based screening. STUDY DESIGN:  Retrospective review of singleton pregnancies with delivery of live born or stillborn infant with Down syndrome from 2009 through 2015. Risk factor categories included maternal age ≥35 years, abnormal serum screening, identification of ≥1 ultrasound marker at 16 to 22 weeks (nuchal thickness ≥6 mm, echogenic intracardiac focus, echogenic bowel, renal pelvis dilatation, femur length <third percentile), and detection of a major fetal anomaly...
July 17, 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/30007050/heterozygous-missense-mutations-in-nfatc1-are-associated-with-atrioventricular-septal-defect
#9
Rosangela Ferese, Monica Bonetti, Federica Consoli, Valentina Guida, Anna Sarkozy, Francesca Romana Lepri, Paolo Versacci, Stefano Gambardella, Giulio Calcagni, Katia Margiotti, Francesca Piceci Sparascio, Hossein Hozhabri, Tommaso Mazza, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia, Bruno Marino, Jeroen den Hertog, Alessandro De Luca
Atrioventricular septal defect (AVSD) may occur as part of a complex disorder (e.g., Down syndrome, heterotaxy), or as isolate cardiac defect. Multiple lines of evidence support a role of calcineurin/NFAT signaling in AVSD, and mutations in CRELD1, a protein functioning as a regulator of calcineurin/NFAT signaling have been reported in a small fraction of affected subjects. In this study, 22 patients with isolated AVSD and 38 with AVSD and heterotaxy were screened for NFATC1 gene mutations. Sequence analysis identified three missense variants in three individuals, including a subject with isolated AVSD [p...
July 14, 2018: Human Mutation
https://www.readbyqxmd.com/read/30002703/could-first-and-second-trimester-biochemical-markers-for-down-syndrome-have-a-role-in-predicting-intrahepatic-cholestasis-of-pregnancy
#10
Ahter Tanay Tayyar, Ahmet Tayyar, Tolga Atakul, Cigdem Abide Yayla, Cetin Kilicci, Ahmet Eser, Resul Karakus, Dilsat Herkiloglu, Cevat Rifat Cundubey, Mehmet Tayyar
Introduction: The aim of this study is to compare first- and second-trimester Down syndrome biochemical screening markers in intrahepatic cholestasis of pregnancy (ICP) and normal pregnancies. Material and methods: This observational case-control study was conducted at Health Sciences University Zeynep Kamil Maternity and Children's Health Training and Research Hospital and the Department of Obstetrics and Gynecology at Erciyes University Medical Faculty during 2016-2017...
June 2018: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/29989561/analysis-of-diagnostic-therapeutic-results-after-the-first-year-of-life-in-children-of-hearing-disturbance-risk-groups
#11
Sebastian Kocoń, Agnieszka Wiatr, Patryk Hartwich, Paweł Stręk, Remigiusz Ziarno, Jacek Składzień, Maciej Wiatr
INTRODUCTION: It is assumed that the critical period for diagnosis of hearing disorders is the baby&apos;s first three months of life and that appropriate course and implementation of treatment and/or rehabilitation should begin before a child is six months old. However various kinds of problems may occur during auditory screening of a child may exceed this interval. AIM: The aim of this study was an evaluation of auditory screening results for children over 12 months old with congenital hearing loss...
May 16, 2018: Otolaryngologia Polska
https://www.readbyqxmd.com/read/29972375/real-time-pcr-tests-to-specifically-detect-ihhnv-lineages-and-an-ihhnv-eve-integrated-in-the-genome-of-penaeus-monodon
#12
Jeff A Cowley, Min Rao, Greg J Coman
Infectious hypodermal and hematopoietic necrosis virus (IHHNV) can cause mass mortalities in western blue shrimp Penaeus stylirostris, runt deformity syndrome in Pacific white shrimp P. vannamei and scalloped abdominal shell deformities in black tiger shrimp P. monodon. In P. monodon, however, PCR-based diagnosis of IHHNV can be complicated by the presence of a chromosome-integrated, non-replicating endogenous viral element (EVE). To facilitate high-throughput screening of P. monodon for IHHNV infection and/or EVE sequences, here we report real-time PCR tests designed to specifically detect IHHNV Lineage I, II and III but not EVE Type A sequences and vice versa...
July 4, 2018: Diseases of Aquatic Organisms
https://www.readbyqxmd.com/read/29971948/signs-indicating-dementia-in-down-williams-and-fragile-x-syndromes
#13
Oili Sauna-Aho, Nina Bjelogrlic-Laakso, Auli Siren, Maria Arvio
BACKGROUND: Intellectual disability (ID) and dementia reflect disturbed cortical function during and after developmental age, respectively. Due to the wide heterogeneity of ID population the decline in cognitive and adaptive skills may be different in distinct genetic subgroups. METHODS: Using the British Present Psychiatric State-learning Disabilities assessment (PPS-LD) questionnaire the dementia signs were screened in 62, 22 and 44 individuals (> 35 year of age) with Down (DS, OMIM number 190685), Williams (WS, OMIM number, 194050), and Fragile X syndrome (FXS, OMIM number 309550), respectively...
July 3, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29961762/differences-in-prenatal-aneuploidy-screening-among-african-american-women-with-hemoglobin-s-variants
#14
April D Adams, Kendra Schaa, Rachael T Overcash
OBJECTIVE: It has been shown that hemoglobinopathies increase the risk of pregnancy complications and placental dysfunction. This could alter the placental analytes examined during prenatal aneuploidy screening. Our objective was to determine whether there is a difference in maternal serum screening results for women with hemoglobin S variants (AS, SS, SC, S/beta thalassemia) compared with women with normal hemoglobin (AA). STUDY DESIGN: This is a retrospective cohort study in African-American women receiving aneuploidy screening at MedStar Washington Hospital Center from 2008 to 2015...
July 2, 2018: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29958890/snoring-and-markers-of-fetal-and-placental-wellbeing
#15
Myriam Salameh, Jennifer Lee, Glenn Palomaki, Elizabeth Eklund, Patrizia Curran, Jose Antonio Rojas Suarez, Geralyn Lambert-Messerlian, Ghada Bourjeily
INTRODUCTION: Snoring, the symptom of partial airway obstruction during sleep, is a common complaint during pregnancy and is associated with adverse perinatal outcomes. Mechanisms underlying this association have not been studied. We investigated the relationship between snoring in pregnancy and maternal serum markers of feto-placental wellbeing. METHODS: We conducted a secondary analysis of a cross sectional study designed to investigate perinatal outcomes of sleep-disordered breathing...
June 26, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29953014/study-protocol-and-rationale-for-a-prospective-randomized-double-blind-placebo-controlled-study-to-evaluate-the-effects-of-ashwagandha-withania-somnifera-extract-on-nonrestorative-sleep
#16
RANDOMIZED CONTROLLED TRIAL
Abhijit Deshpande, Nushafreen Irani, Rathna Balakrishnan
Nonrestorative sleep (NRS) is one of the cardinal symptoms of insomnia and can occur independent of other components of insomnia. Among the sleep disturbances, NRS has been little studied in the general population, even though this symptom plays an important role in several medical conditions associated with chronic inflammation such as heart disease, fibromyalgia, and chronic fatigue syndrome, as well as various sleep disorders. There is paucity in the literature about effective treatments for NRS. Ashwagandha (Withania somnifera) has been demonstrated to reduce anxiety and stress, allowing the body to settle down and prepare for sleep...
June 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29944051/perinatal-outcomes-following-mid-trimester-detection-of-isolated-short-foetal-femur-length
#17
M Smith, A Nicoll
BACKGROUND: Short foetal femur length (FL) is a normal variant but may also be a marker for disorders such as skeletal dysplasia, Trisomy 21 (T21), Turners syndrome, congenital infection (TORCH) and foetal growth restriction (FGR). AIM: Our aim was to review outcomes in our population following a diagnosis of isolated short FL (FL <5th centile) when detected at the time of mid trimester foetal anomaly scan (FAS). METHODS: All women within NHS Tayside who attended for routine mid trimester foetal anomaly scan at 18-21 weeks gestation (Range = 18+2 -21+3  weeks) between November 2011 and June 2016 were included...
July 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29927491/second-trimester-maternal-serum-screening-for-fetal-down-syndrome-as-a-screening-test-for-hemoglobin-bart-s-disease-a-prospective-population-based-study
#18
Chanane Wanapirak, Wirawit Piyamomgkol, Supatra Sirichotiyakul, Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan, Kuntharee Traisrisilp, Phudit Jatavan, Theera Tongsong
PURPOSE: The purpose of this study is to determine the effectiveness of second-trimester maternal serum screening for Down syndrome as a screening test for fetal hemoglobin (Hb) Bart's disease among an unselected population. METHODS: A secondary analysis of a large prospective database (20 254 pregnancies) was conducted to compare the levels of maternal serum screening, alpha-fetoprotein (AFP), free beta-human chorionic gonadotropin, and unconjugated estriol between pregnancies with Hb Bart's disease and unaffected pregnancies...
June 21, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29912628/transcriptome-analysis-of-pcos-arrested-2-cell-embryos
#19
Cuiling Lu, Hongbin Chi, Yapeng Wang, Xue Feng, Lina Wang, Shuo Huang, Liying Yan, Shengli Lin, Ping Liu, Jie Qiao
In an attempt to explore the early developmental arrest in embryos from polycystic ovarian syndrome (PCOS) patients, we sequenced the transcriptome profiles of PCOS arrested 2-cell embryos, non-PCOS arrested 2-cell embryos and non-arrested 2-cell embryos using single-cell RNA-Seq technique. Differential expression analysis was performed using the DEGSeq R package. Gene Ontology (GO) enrichment was analyzed using the GOseq R package. Data revealed 62 differentially expressed genes between non-PCOS arrested and PCOS arrested embryos and 2217 differentially expressed genes between PCOS arrested and non-arrested 2-cell embryos...
July 3, 2018: Cell Cycle
https://www.readbyqxmd.com/read/29899373/isochromosome-21q-is-overrepresented-among-false-negative-cell-free-dna-prenatal-screening-results-involving-down-syndrome
#20
Karin Huijsdens-van Amsterdam, Lieve Page-Christiaens, Nicola Flowers, Michael D Bonifacio, Katie M Battese Ellis, Ida Vogel, Else Marie Vestergaard, Javier Miguelez, Mario Henrique Burlacchini de Carvalho, Erik A Sistermans, Mark D Pertile
False-negative cell-free DNA (cfDNA) screening results involving Down syndrome are rare, but have high clinical impact on patients and their healthcare providers. Understanding the biology behind these results may allow for improved diagnostic follow-up and counseling. In 5 different centers offering cfDNA prenatal screening, 9 false-negative results were documented in 646 confirmed cases of trisomy 21; a false-negative rate of 1.4% (95% CI, 0.7-2.6). False-negative results included 4 cases of classical trisomy 21 and 5 cases with a de novo 21q;21q rearrangement...
June 13, 2018: European Journal of Human Genetics: EJHG
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