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DOWN DOWN's SYNDROME

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https://www.readbyqxmd.com/read/29689719/the-behavioral-and-psychological-symptoms-of-dementia-in-down-syndrome-bpsd-ds-scale-comprehensive-assessment-of-psychopathology-in-down-syndrome
#1
Alain D Dekker, Silvia Sacco, Angelo Carfi, Bessy Benejam, Yannick Vermeiren, Gonny Beugelsdijk, Mieke Schippers, Lyanne Hassefras, José Eleveld, Sharina Grefelman, Roelie Fopma, Monique Bomer-Veenboer, Mariángeles Boti, G Danielle E Oosterling, Esther Scholten, Marleen Tollenaere, Laura Checkley, André Strydom, Gert Van Goethem, Graziano Onder, Rafael Blesa, Christine Zu Eulenburg, Antonia M W Coppus, Anne-Sophie Rebillat, Juan Fortea, Peter P De Deyn
People with Down syndrome (DS) are prone to develop Alzheimer's disease (AD). Behavioral and psychological symptoms of dementia (BPSD) are core features, but have not been comprehensively evaluated in DS. In a European multidisciplinary study, the novel Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) scale was developed to identify frequency and severity of behavioral changes taking account of life-long characteristic behavior. 83 behavioral items in 12 clinically defined sections were evaluated...
April 16, 2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29689550/hidradenitis-suppurativa-associated-with-down-syndrome-is-characterized-by-early-age-at-diagnosis
#2
Giulia Giovanardi, Andrea Chiricozzi, Luca Bianchi, Clara De Simone, Valentina Dini, Chiara Franceschini, Simone Garcovich, Teresa Oranges, Cosimo Di Raimondo, Dante Raffaele Caposiena Caro, Marco Romanelli, Ketty Peris
BACKGROUND/AIMS: The association between hidradenitis suppurativa (HS) and multiple comorbidities has been widely investigated but data about the coexistence of Down syndrome (DS) are scarce. We sought to evaluate the prevalence of DS among a population of HS patients and assess their clinical features. METHODS: We collected demographic and clinical data of patients affected with HS referred to three Italian outpatient dermatology clinics. RESULTS: A total of 257 HS patients were enrolled, 62% females and 38% males (mean age [±SD]: 23...
April 24, 2018: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/29688494/discordance-between-serum-anti-m%C3%A3-llerian-hormone-concentrations-and-antral-follicle-counts-not-only-technical-issues
#3
M Š Alebic, N Stojanovic, D Dewailly
STUDY QUESTION: Do patient-specific features contribute to the differences between measured serum anti-Müllerian hormone (AMH) concentrations and AMH values expected from the corresponding antral follicle count (AFC)? SUMMARY ANSWER: Patient-specific features contribute to the differences between measured AMH values and AMH values expected from the corresponding AFC (AMHp), potentially through their effect on follicular AMH production. WHAT IS KNOWN ALREADY: Both patient counselling and patient management could be hampered by finding of disagreement between AFC and AMH if both are used for the prediction of ovarian response...
April 24, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29687086/vertical-diplopia-and-oscillopsia-due-to-midbrain-keyhole-aqueduct-syndrome-associated-with-severe-cough
#4
Angela Jinsook Oh, Bryan Alexander Lanzman, Yaping Joyce Liao
Purpose: Midline structural defects in the neural axis can give rise to neuro-ophthalmic symptoms. We report a rare case of keyhole aqueduct syndrome presenting after two years of severe cough due to gastroesophageal reflux disease. Observations: A 58-year-old woman with a 2-year history of daily, severe cough presented to the neuro-ophthalmology clinic with progressive diplopia and oscillopsia. Examination revealed a 1-2 Hz down-beating nystagmus in primary gaze that worsened with left, right, and down gazes...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29686519/analysis-of-downs-syndrome-with-molecular-techniques-for-future-diagnoses
#5
REVIEW
May Salem Al-Nbaheen
Down syndrome (DS) is a genetic disorder appeared due to the presence of trisomy in chromosome 21 in the G-group of the acrocentric region. DS is also known as non-Mendelian inheritance, due to the lack of Mendel's laws. The disorder in children is identified through clinical symptoms and chromosomal analysis and till now there are no biochemical and molecular analyses. Presently, whole exome sequencing (WES) has largely contributed in identifying the new disease-causing genes and represented a significant breakthrough in the field of human genetics and this technique uses high throughput sequencing technologies to determine the arrangement of DNA base pairs specifying the protein coding regions of an individual's genome...
March 2018: Saudi Journal of Biological Sciences
https://www.readbyqxmd.com/read/29685703/injury-among-adolescents-with-intellectual-disability-a-prospective-cohort-study
#6
David White, Lyn McPherson, Nicholas Lennox, Robert S Ware
INTRODUCTION: Injury is the leading cause of mortality and morbidity in adolescents worldwide, and injury rates have been shown to be higher among youth with intellectual disability. Despite this, injury among adolescents with intellectual disability remains poorly investigated. This study aimed to identify characteristics associated with injury among adolescents with intellectual disability living in the community. METHODS: A cohort of adolescents with intellectual disability living in southern Queensland, Australia was investigated prospectively between January 2006 and June 2010...
April 12, 2018: Injury
https://www.readbyqxmd.com/read/29684352/nrf2-activation-protects-against-intratracheal-lps-induced-mouse-murine-acute-respiratory-distress-syndrome-by-regulating-macrophage-polarization
#7
Juan Wei, Guannan Chen, Xuan Shi, Huanping Zhou, Meiyun Liu, Yuanli Chen, Di Feng, Pengcheng Zhang, Lingmin Wu, Xin Lv
The transcription factor nuclear factor E2-related factor 2 (Nrf2) is known to control the expression of antioxidant response elements and cytoprotective genes and modulate inflammatory response, helping to ameliorate damage in many diseases. Exactly how Nrf2 regulates innate inflammatory homeostasis remains unclear. In this study, we provide in vitro and in vivo evidence that Nrf2 plays a crucial role in macrophage polarization and acute respiratory distress syndrome (ARDS). We conducted in vitro experiments using a mouse alveolar macrophage cell line as well as primary cultures of macrophages in which cells were exposed to lipopolysaccharide (LPS) or interferon-γ in order to mimic ARDS, in the presence or absence of the Nrf2 activator tert-butylhydroquinone (tBHQ)...
April 20, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29683008/first-trimester-combined-screening-biochemistry-in-detection-of-congenital-heart-defects
#8
Julia Alanen, Teemu Korpimaki, Heikki Kouru, Mikko Sairanen, Markku Leskinen, Mika Gissler, Markku Ryynanen, Jaana Nevalainen
OBJECTIVE: To evaluate the performance of first trimester biochemical markers, pregnancy-associated plasma protein-A (PAPP-A), free beta human chorionic gonadotropin (fβ-hCG), and nuchal translucency (NT) in detection of severe congenital heart defects (CHDs). METHODS: During the study period from 1 January 2008 to 31 December 2011, biochemical markers and NT were measured in 31,144 women as part of voluntary first trimester screening program for Down's syndrome in Northern Finland...
April 22, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29682881/down-syndrome-and-mild-kidney-dysfunction
#9
Satoshi Yamakawa, Takuhito Nagai, Osamu Uemura
Few studies have evaluated kidney function in children with Down syndrome (DS) in detail. This study investigated kidney function in pediatric DS patients without complications that affect kidney function. Creatinine (Cr)- and cystatin C (cysC)-based estimated glomerular filtration rate (eGFR) were measured in a cohort of Japanese DS patients. The kidney function in these children with DS was approximately 80% that of the healthy Japanese children, suggesting that children with DS have smaller kidneys or a lower number of glomeruli than children without DS...
April 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29682828/beyond-the-floor-effect-on-the-wisc-iv-in-individuals-with-down-syndrome-are-there-cognitive-strengths-and-weaknesses
#10
L Pezzuti, R Nacinovich, S Oggiano, M Bomba, R Ferri, A La Stella, S Rossetti, A Orsini
BACKGROUND: Individuals with Down syndrome generally show a floor effect on Wechsler Scales that is manifested by flat profiles and with many or all of the weighted scores on the subtests equal to 1. METHOD: The main aim of the present paper is to use the statistical Hessl method and the extended statistical method of Orsini, Pezzuti and Hulbert with a sample of individuals with Down syndrome (n = 128; 72 boys and 56 girls), to underline the variability of performance on Wechsler Intelligence Scale for Children-Fourth Edition subtests and indices, highlighting any strengths and weaknesses of this population that otherwise appear to be flattened...
April 22, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29681439/bone-mineral-density-distribution-curves-in-spanish-adults-with-down-syndrome
#11
Ramón Costa, Alejandra Gullón, Rosa De Miguel, Diego Real de Asúa, Azucena Bautista, Clara García, Carmen Suarez, Santos Castañeda, Fernando Moldenhauer
According to reports from small-sized case series, adults with Down syndrome (DS) appear to have lower bone mineral density (BMD) than the general population. The objective of our study was to further characterize the bone mass acquisition curve in an adult DS population. This is a retrospective study of 297 adults with DS from the Adult Down Syndrome Outpatient Clinic of a tertiary care hospital in Madrid, Spain, who underwent a bone densitometry (Hologic QDR-4500W), for clinical purposes between January 2010 and June 2015...
March 21, 2018: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/29681091/expanding-the-molecular-basis-and-phenotypic-spectrum-of-zdhhc9-associated-x-linked-intellectual-disability
#12
Schaida Schirwani, Emma Wakeling, Kath Smith, Meena Balasubramanian
Pathogenic variants in Zinc Finger DHHC-Type Containing 9 (ZDHHC9) gene have been identified as the cause of X-linked intellectual disability (XLID) in a small number of families. There are a total of 11 reported pathogenic variants in ZDHHC9 in the literature. The majority of reported variants are familial point mutations. There is one report of XLID associated with a de novo mutation in ZDHHC9, and one family with intragenic deletion within ZDHHC9 detected by array CGH. Although initial reports of families with ZDHHC9 pathogenic variants suggested a nonsyndromic XLID, more recent reports suggest a syndromic phenotype with facial dysmorphism...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29680852/possible-association-between-obesity-and-periodontitis-in-patients-with-down-syndrome
#13
E Culebras-Atienza, F-J Silvestre, J Silvestre-Rangil
BACKGROUND: The present study was carried out to evaluate the possible association between obesity and periodontitis in patients with DS, and to explore which measure of obesity is most closely correlated to periodontitis. MATERIAL AND METHODS: A prospective observational study was made to determine whether obesity is related to periodontal disease in patients with DS. The anthropometric variables were body height and weight, which were used to calculate BMI and stratify the patients into three categories: < 25(normal weight), 25-29...
April 22, 2018: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/29680668/anti-il-7-receptor-%C3%AE-treatment-ameliorates-newly-established-sj%C3%A3-gren-s-like-exocrinopathy-in-non-obese-diabetic-mice
#14
Jing Zhou, Qing Yu
The levels of interleukin (IL)-7 and its receptor are elevated in the salivary glands of patients with Sjögren's syndrome (SS). Our previous study indicates that IL-7 plays a critical pathogenic role in the development and onset of SS in a mouse model of this disease. The present study aims at determining whether IL-7 also plays a role in sustaining SS pathologies after the disease onset, by using the non-obese diabetic (NOD) model. Intraperitoneal administration of a blocking antibody against the IL-7 receptor α chain (IL-7Rα) to female NOD mice aged 10 weeks, which exhibited newly onset clinical SS, for the duration of 3 weeks significantly ameliorated characteristic SS pathologies including hyposalivation and leukocyte infiltration of the submandibular glands (SMGs)...
April 19, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29678139/pulmonary-hemosiderosis-in-children-with-down-syndrome-a-national-experience
#15
Aurelia Alimi, Jessica Taytard, Rola Abou Taam, Véronique Houdouin, Aude Forgeron, Marc Lubrano Lavadera, Pierrick Cros, Isabelle Gibertini, Jocelyne Derelle, Antoine Deschildre, Caroline Thumerelle, Ralph Epaud, Philippe Reix, Michael Fayon, Sylvie Roullaud, Françoise Troussier, Marie-Catherine Renoux, Jacques de Blic, Sophie Leyronnas, Guillaume Thouvenin, Caroline Perisson, Aimé Ravel, Annick Clement, Harriet Corvol, Nadia Nathan
BACKGROUND: Pulmonary hemosiderosis is a rare and complex disease in children. A previous study from the French RespiRare® network led to two important findings: 20% of the children presented with both pulmonary hemosiderosis and Down syndrome (DS), and at least one tested autoantibody was found positive in 50%. This study investigates the relationships between pulmonary hemosiderosis and DS. METHODS: Patients younger than 20 years old and followed for pulmonary hemosiderosis were retrieved from the RespiRare® database...
April 20, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29676069/perceptions-of-severe-asthma-and-asthma-copd-overlap-syndrome-among-specialists-a-questionnaire-survey
#16
Sang Heon Kim, Ji Yong Moon, Jae Hyun Lee, Ga Young Ban, Sujeong Kim, Mi Ae Kim, Joo Hee Kim, Min Hye Kim, Chan Sun Park, So Young Park, Hyouk Soo Kwon, Jae Woo Kwon, Jae Woo Jung, Hye Ryun Kang, Jong Sook Park, Tae Bum Kim, Heung Woo Park, You Sook Cho, Kwang Ha Yoo, Yeon Mok Oh, Byung Jae Lee, An Soo Jang, Sang Heon Cho, Hae Sim Park, Choon Sik Park, Ho Joo Yoon
PURPOSE: Severe asthma and asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) are difficult to control and are often associated with poor clinical outcomes. However, much is not understood regarding the diagnosis and treatment of severe asthma and ACOS. To evaluate the current perceptions of severe asthma and COPD among asthma and COPD specialists, we designed an e-mail and internet-based questionnaire survey. METHODS: Subjects were selected based on clinical specialty from among the members of the Korean Academy of Asthma, Allergy and Clinical Immunology and the Korean Academy of Tuberculosis and Respiratory Diseases...
May 2018: Allergy, Asthma & Immunology Research
https://www.readbyqxmd.com/read/29674990/emotion-recognition-as-a-real-strength-in-williams-syndrome-evidence-from-a-dynamic-non-verbal-task
#17
Laure Ibernon, Claire Touchet, Régis Pochon
The hypersocial profile characterizing individuals with Williams syndrome (WS), and particularly their attraction to human faces and their desire to form relationships with other people, could favor the development of their emotion recognition capacities. This study seeks to better understand the development of emotion recognition capacities in WS. The ability to recognize six emotions was assessed in 15 participants with WS. Their performance was compared to that of 15 participants with Down syndrome (DS) and 15 typically developing (TD) children of the same non-verbal developmental age, as assessed with Raven's Colored Progressive Matrices (RCPM; Raven et al...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29674607/up-regulation-of-long-noncoding-rna-sra-promotes-cell-growth-inhibits-cell-apoptosis-and-induces-secretion-of-estradiol-and-progesterone-in-ovarian-granular-cells-of-mice
#18
Yan Li, Haixu Wang, Dangxia Zhou, Ting Shuang, Haibo Zhao, Biliang Chen
BACKGROUND Increasing evidence indicates that long noncoding RNAs (LncRNAs) play a key role in multiple pathological processes. It has been shown that LncRNA steroid receptor RNA activator (SRA) is elevated in peripheral blood of patients with polycystic ovary syndrome (PCOS). The aim of this study was to assess the effect of elevated LncRNA SRA on ovarian granular cells of mice in vitro. MATERIAL AND METHODS We firstly isolated granular cells from mouse ovaries and over-expressed the LncRNA SRA by means of lentiviral transfection in this cell line...
April 20, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29673006/electro-vectorcardiographic-demonstration-of-bifascicular-block-associated-with-ventricular-preexcitation
#19
Andrés R Pérez-Riera, Raimundo Barbosa-Barros, Rodrigo Daminello-Raimundo, Luiz Carlos de Abreu, Kjell Nikus
Down syndrome occurs more frequently in the offsprings of older pregnant women and may be associated with atrioventricular septal defect. This refers to a broad spectrum of malformations characterized by a deficiency of the atrioventricular septum and abnormalities of the atrioventricular valves caused by an abnormal fusion of the superior and inferior endocardial cushions with the midportion of the atrial septum and the muscular portion of the ventricular septum.
April 19, 2018: Annals of Noninvasive Electrocardiology
https://www.readbyqxmd.com/read/29671638/gait-characteristics-of-adults-with-intellectual-disability
#20
Alyt Oppewal, Dederieke A M Festen, Thessa I M Hilgenkamp
Gait is a relevant and complex aspect of motor functioning. Disturbances are related to negative health outcomes. Gait characteristics of 31 adults with intellectual disability (ID) without Down syndrome (DS) (42.77±16.70 years) were investigated, and associations with age, sex, body mass index (BMI), and level of ID were assessed. Sex and BMI were significantly associated with some of the gait parameters, while age and level of ID were not. Gait characteristics of adults with ID seem to be comparable to those of the general population of older adults (average 20 years older), except that adults with ID seem to spend less time in stance and double support phase and walk more variable and with a broader base of support...
May 2018: American Journal on Intellectual and Developmental Disabilities
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