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https://www.readbyqxmd.com/read/28087733/metformin-restores-the-mitochondrial-network-and-reverses-mitochondrial-dysfunction-in-down-syndrome-cells
#1
Antonella Izzo, Maria Nitti, Nunzia Mollo, Simona Paladino, Claudio Procaccini, Deriggio Faicchia, Gaetano Calì, Rita Genesio, Ferdinando Bonfiglio, Rita Cicatiello, Elena Polishchuk, Roman Polishchuk, Paolo Pinton, Giuseppe Matarese, Anna Conti, Lucio Nitsch
Alterations in mitochondrial activity and morphology have been demonstrated in human cells and tissues from individuals with Down syndrome (DS), as well as in DS mouse models. An impaired activity of the transcriptional coactivator PGC-1α/PPARGC1Adue to the overexpression of chromosome 21 genes, such as NRIP1/RIP140, has emerged as an underlying cause of mitochondrial dysfunction in DS. We tested the hypothesis that the activation of the PGC-1α pathway might indeed reverse this mitochondrial dysfunction.
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28081181/aronia-melanocarpa-extract-ameliorates-hepatic-lipid-metabolism-through-ppar%C3%AE-2-downregulation
#2
Chung-Hwa Park, Jung-Hee Kim, Eun Byul Lee, Wonhee Hur, Oh-Joo Kwon, Hyoung-Jin Park, Seung Kew Yoon
Nonalcoholic fatty liver disease (NAFLD) is a hepatic manifestation of metabolic syndrome. Studies have demonstrated that anthocyanin-rich foods may improve hyperlipidemia and ameliorate hepatic steatosis. Here, effects of Aronia melanocarpa (AM), known to be rich of anthocyanins, on hepatic lipid metabolism and adipogenic genes were determined. AM was treated to C57BL/6N mice fed with high fat diet (HFD) or to FL83B cells treated with free fatty acid (FFA). Changes in levels of lipids, enzymes and hormones were observed, and expressions of adipogenic genes involved in hepatic lipid metabolism were detected by PCR, Western blotting and luciferase assay...
2017: PloS One
https://www.readbyqxmd.com/read/28079865/differences-in-mortality-characteristics-in-neonates-with-down-s-syndrome
#3
C L Cua, U Haque, S Santoro, L Nicholson, C H Backes
OBJECTIVE: Neonates with Down's syndrome (nDS) may have multiple medical issues that place them at increased risk for mortality during the newborn period. Goal of this study was to determine if there are differences in baseline characteristics, medical complications or procedures performed during hospitalization between nDS who survived versus those who died during initial hospitalization. STUDY DESIGN: Data from 2000 to 2014 were reviewed using the Pediatric Health Information Systems (PHIS) database on all DS patients admitted to the hospital <30 days postnatal life...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28078966/visual-and-cross-modal-cues-increase-the-identification-of-overlapping-visual-stimuli-in-balint-s-syndrome
#4
Daniela D'Imperio, Michele Scandola, Valeria Gobbetto, Cristina Bulgarelli, Matteo Salgarello, Renato Avesani, Valentina Moro
INTRODUCTION: Cross-modal interactions improve the processing of external stimuli, particularly when an isolated sensory modality is impaired. When information from different modalities is integrated, object recognition is facilitated probably as a result of bottom-up and top-down processes. The aim of this study was to investigate the potential effects of cross-modal stimulation in a case of simultanagnosia. METHOD: We report a detailed analysis of clinical symptoms and an (18)F-fluorodeoxyglucose (FDG) brain positron emission tomography/computed tomography (PET/CT) study of a patient affected by Balint's syndrome, a rare and invasive visual-spatial disorder following bilateral parieto-occipital lesions...
January 12, 2017: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/28078918/dietary-practices-of-children-and-adolescents-with-down-syndrome
#5
Marina Lummertz Magenis, Alessandra Gonçalves Machado, Angela Martinha Bongiolo, Marco Antonio da Silva, Kamila Castro, Ingrid Dalira Schweigert Perry
The aim of this study was to assess dietary intake, breastfeeding history, weight at birth and current weight in children and adolescents with Down syndrome (DS). Therefore, a cross-sectional, controlled study with 19 DS participants and 19 controls without DS matched by gender and age was performed. Except for vitamin D, a lower or the same frequency of insufficient intake in other micronutrients was noted in participants compared with controls. The DS group had a reduced exclusive breastfeeding duration and increased carbohydrate and caloric intake...
January 1, 2017: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/28077839/atypical-trigeminal-neuralgia-a-rare-neurological-manifestation-of-systemic-lupus-erythematosus
#6
Viki Kumar, Jaspinder Kaur, Pallavi Pothuri, Sahiba Bandagi
BACKGROUND Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder of unknown etiology which can present at any age with symptoms of mucocutaneous, musculoskeletal, renal, central nervous system, and nonspecific clinical pictures making the disease a "master of mimicry". CASE REPORT A 53-year-old female, who was recently diagnosed with SLE, presented with right-sided sharp and electric shock-like facial pain starting at the side of her right nostril and traveling down the naso-labial fold and then back to the angle of the jaw, mostly in the region of V2-V3 distribution with no radiation beyond trigeminal distribution...
January 12, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28076597/oral-health-evaluation-in-special-needs-individuals
#7
Danielle de Moraes Pini, Paula Cristina Gil Ritter Fröhlich, Lilian Rigo
Objective: To identify the prevalence of the main oral problems present in special needs children and to relate the underlying conditions with the clinical and demographic variables. Methods: The study was based on the physical examination of 47 students from the Associação de Pais e Amigos dos Excepcionais diagnosed as Down syndrome, cerebral palsy and intellectual deficit. For data collection, we used a self-administered questionnaire that included indices of dental caries and oral hygiene, Angle classification, malposition of dental groups and oral hygiene habits...
October 2016: Einstein
https://www.readbyqxmd.com/read/28071728/determining-the-relative-contribution-of-retinal-disparity-and-blur-cues-to-ocular-accommodation-in-down-syndrome
#8
Lesley Doyle, Kathryn J Saunders, Julie-Anne Little
Individuals with Down syndrome (DS) often exhibit hypoaccommodation alongside accurate vergence. This study investigates the sensitivity of the two systems to retinal disparity and blur cues, establishing the relationship between the two in terms of accommodative-convergence to accommodation (AC/A) and convergence-accommodation to convergence (CA/C) ratios. An objective photorefraction system measured accommodation and vergence under binocular conditions and when retinal disparity and blur cues were removed...
January 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28069794/brain-ventriculomegaly-in-down-syndrome-mice-is-caused-by-pcp4-dose-dependent-cilia-dysfunction
#9
Matthieu Raveau, Takashi Nakahari, Sachie Asada, Keiichi Ishihara, Kenji Amano, Atsushi Shimohata, Haruhiko Sago, Kazuhiro Yamakawa
Down syndrome is a leading cause of congenital intellectual disability caused by an additional copy of the chromosome 21. Patients display physiological and morphological changes affecting the brain and its function. Previously we showed that Ts1Cje and Ts2Cje, Down syndrome mouse models carrying overlapping trisomic segments of different length, show similar ventriculomegaly and neurogenesis dysfunction leading to the hypothesis of a cause-consequence relationship between these phenotypes. However, we here discovered that Ts1Rhr Down syndrome model, carrying an even shorter trisomic segment, was sufficient to trigger ventricular enlargement and ependymal cilia beating deficiency without affecting neurogenesis...
January 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28069640/sequence-variation-in-ppp1r13l-results-in-a-novel-form-of-cardio-cutaneous-syndrome
#10
Tzipora C Falik-Zaccai, Yiftah Barsheshet, Hanna Mandel, Meital Segev, Avraham Lorber, Shachaf Gelberg, Limor Kalfon, Shani Ben Haroush, Adel Shalata, Liat Gelernter-Yaniv, Sarah Chaim, Dorith Raviv Shay, Morad Khayat, Michal Werbner, Inbar Levi, Yishay Shoval, Galit Tal, Stavit Shalev, Eli Reuveni, Emily Avitan-Hersh, Eugene Vlodavsky, Liat Appl-Sarid, Dorit Goldsher, Reuven Bergman, Zvi Segal, Ora Bitterman-Deutsch, Orly Avni
Dilated cardiomyopathy (DCM) is a life-threatening disorder whose genetic basis is heterogeneous and mostly unknown. Five Arab Christian infants, aged 4-30 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3. A homozygous sequence variation creating a premature stop codon at PPP1R13L encoding the iASPP protein was identified in three infants and in the mother of the other two. Patients' fibroblasts and PPP1R13L-knocked down human fibroblasts presented higher expression levels of pro-inflammatory cytokine genes in response to lipopolysaccharide, as well as Ppp1r13l-knocked down murine cardiomyocytes and hearts of Ppp1r13l-deficient mice...
January 9, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28067728/advances-in-developmental-neuropsychiatry-autism-spectrum-disorder-cornelia-de-lange-syndrome-self-injurious-behavior-down-syndrome-fetal-alcohol-spectrum-disorder-and-borderline-intellectual-functioning
#11
https://www.readbyqxmd.com/read/28063190/prognostic-impact-of-specific-molecular-profiles-in-pediatric-acute-megakaryoblastic-leukemia-in-non-down-syndrome
#12
Yusuke Hara, Norio Shiba, Kentaro Ohki, Ken Tabuchi, Genki Yamato, Myoung-Ja Park, Daisuke Tomizawa, Akitoshi Kinoshita, Akira Shimada, Hirokazu Arakawa, Akiko M Saito, Nobutaka Kiyokawa, Akio Tawa, Keizo Horibe, Takashi Taga, Souichi Adachi, Tomohiko Taki, Yasuhide Hayashi
Pediatric acute megakaryoblastic leukemia with non-Down syndrome (AMKL) is a unique subtype of acute myeloid leukemia (AML). Novel CBFA2T3-GLIS2 and NUP98-KDM5A fusions recurrently found in AMKL were recently reported as poor prognostic factors. However, their detailed clinical and molecular characteristics in patients treated with recent improved therapies remain uncertain. We analyzed molecular features of 44 AMKL patients treated on two recent Japanese AML protocols, the AML99 and AML-05 trials. We identified CBFA2T3-GLIS2, NUP98-KDM5A, RBM15-MKL1, and KMT2A rearrangements in 12 (27%), 4 (9%), 2 (5%), and 3 (7%) patients, respectively...
January 7, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28060127/altered-peripheral-blood-myeloid-cell-subpopulations-in-children-with-down-syndrome-and-pulmonary-hypertension
#13
Kelley L Colvin, D Dunbar Ivy, Michael E Yeager
No abstract text is available yet for this article.
January 5, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28059787/neurons-derived-from-induced-pluripotent-stem-cells-of-patients-with-down-syndrome-reproduce-early-stages-of-alzheimer-s-disease-type-pathology-in-vitro
#14
Erdem B Dashinimaev, Alexander S Artyuhov, Alexey P Bolshakov, Ekaterina A Vorotelyak, Andrey V Vasiliev
People with Down syndrome (DS) are at high risk of developing pathology similar to Alzheimer's disease (AD). Modeling of this pathology in vitro may be useful for studying this phenomenon. In this study, we analyzed three different cultures of neural cells carrying trisomy of chromosome 21, which were generated by directed differentiation from induced pluripotent stem cells (iPS cells). We report here that in vitro generated DS neural cells have abnormal metabolism of amyloid-β (Aβ) manifested by increased secretion and accumulation of Aβ granules of Aβ42 pathological isoform with upregulated expression of the APP gene...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28058004/testicular-cancer-in-down-syndrome-with-spinal-cord-metastases
#15
Turky Almouhissen, Hattan Badr, Bassam AlMatrafi, Noor Alessa, Anmar Nassir
A 22-year-old male patient with Down syndrome was referred to our hospital with a vast left testicular mass. He underwent a left radical inguinal orchiectomy, and a histopathological examination of the mass showed a yolk sac tumor invading the epididymis. The patient was discharged in a satisfactory condition. Sixteen days later, the patient presented again complaining of lower limb weakness. Magnetic resonance imaging of the spine showed metastatic lesions compressing the dorsal spine, and he underwent emergency surgical decompression...
October 2016: Urology Annals
https://www.readbyqxmd.com/read/28057251/proenkephalin-renal-dysfunction-and%C3%A2-prognosis-in-patients-with-acute%C3%A2-heart%C3%A2-failure-a-great-network-study
#16
Leong L Ng, Iain B Squire, Donald J L Jones, Thong Huy Cao, Daniel C S Chan, Jatinderpal K Sandhu, Paulene A Quinn, Joan E Davies, Joachim Struck, Oliver Hartmann, Andreas Bergmann, Alexandre Mebazaa, Etienne Gayat, Mattia Arrigo, Eiichi Akiyama, Zaid Sabti, Jens Lohrmann, Raphael Twerenbold, Thomas Herrmann, Carmela Schumacher, Nikola Kozhuharov, Christian Mueller
BACKGROUND: Proenkephalin A (PENK) and its receptors are widely distributed. Enkephalins are cardiodepressive and difficult to measure directly. PENK is a stable surrogate analyte of labile enkephalins that is correlated inversely with renal function. Cardiorenal syndrome is common in acute heart failure (HF) and portends poor prognosis. OBJECTIVES: This study assessed the prognostic value of PENK in acute HF, by identifying levels that may be useful in clinical decisions, and evaluated its utility for predicting cardiorenal syndrome...
January 3, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28056555/a-prospective-clinical-trial-to-compare-the-performance-of-dried-blood-spots-prenatal-screening-for-down-s-syndrome-with-conventional-non-invasive-testing-technology
#17
Huiying Hu, Yulin Jiang, Minghui Zhang, Shanying Liu, Na Hao, Jing Zhou, Juntao Liu, Xiaojin Zhang, Liangkun Ma
To evaluate, side by side, the efficiency of dried blood spots (DBSs) against serum screening for Down's syndrome, and then, to construct a two-tier strategy by topping up the fetal cell-free DNA (cfDNA) secondary screening over the high-risk women marked by the primary blood testing to build a practical screening tactic to identify fetal Down's syndrome. One thousand eight hundred and thirty-seven low-risk Chinese women, with singleton pregnancy, were enrolled for the study. Alpha-fetoprotein and free beta human chorionic gonadotropin were measured for the serum as well as for the parallel DBS samples...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28055122/adenotonsillectomy-outcomes-in-patients-with-down-syndrome-and-obstructive-sleep-apnea
#18
Zachary Farhood, Jonathan W Isley, Adrian A Ong, Shaun A Nguyen, Terence J Camilon, Angela C LaRosa, David R White
OBJECTIVE: To review the literature for studies examining polysomnography (PSG) outcomes in patients with Down syndrome (DS) and obstructive sleep apnea (OSA) following adenotonsillectomy (T&A), and to review our experience with these patients. DATA SOURCES: PubMed-NCBI, Scopus, Ovid, EBSCO, Cochrane, and EMBASE databases; tertiary academic center medical records. REVIEW METHODS: A systematic review of the medical literature identified articles reporting objective outcomes following T&A for OSA treatment in patients with DS...
January 5, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28055081/soluble-cd27-levels-in-cerebrospinal-fluid-as-a-prognostic-biomarker-in-clinically-isolated-syndrome
#19
Roos M van der Vuurst de Vries, Julia Y Mescheriakova, Tessel F Runia, Naghmeh Jafari, Theodora A M Siepman, Rogier Q Hintzen
Importance: There is a growing number of therapies that could be administered after the first symptom of central nervous system demyelination. These drugs can delay multiple sclerosis (MS) diagnosis and slow down future disability. However, treatment of patients with benign course may not be needed; therefore, there is a need for biomarkers to predict long-term prognosis in patients with clinically isolated syndrome (CIS). Objective: To investigate whether the T-cell activation marker soluble CD27 (sCD27) measured in cerebrospinal fluid of patients at time of a first attack is associated with a subsequent diagnosis of MS and a higher relapse rate...
January 3, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28053938/dizygotic-twins-concordant-for-down-syndrome-implication-for-establishing-a-national-birth-defect-registry-in-iran
#20
Shahram Savad, Sepideh Hamzehlou, Jila Ghaffourian Abadi, Mohammad Hossein Modarressi, Shahab Noorian
No abstract text is available yet for this article.
December 2016: Iranian Journal of Public Health
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