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https://www.readbyqxmd.com/read/28919875/psychological-support-for-young-adults-with-down-syndrome-dohsa-hou-program-for-maladaptive-behaviors-and-internalizing-problems
#1
Haruo Fujino
Psychological and psychiatric dysfunction is a major problem in a substantial proportion of young adults with Down syndrome. Some patients develop psychiatric issues, such as depressive, obsessive-compulsive, or psychotic-like disorders, in their late adolescence or young adulthood. Furthermore, these individuals may experience moderate to severe emotional and psychological distress. Development of a psychosocial treatment to address these issues is needed in addition to psychotropic medication. The current study reports two cases of young adults with Down syndrome, who presented psychiatric symptoms and marked disruption in their daily lives...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28889797/an-experimental-study-of-executive-function-and-social-impairment-in-cornelia-de-lange-syndrome
#2
Lisa Nelson, Hayley Crawford, Donna Reid, Joanna Moss, Chris Oliver
BACKGROUND: Extreme shyness and social anxiety is reported to be characteristic of adolescents and adults with Cornelia de Lange syndrome (CdLS); however, the nature of these characteristics is not well documented. In this study, we develop and apply an experimental assessment of social anxiety in a group of adolescents and adults with CdLS to determine the nature of the social difficulties and whether they are related to impairments in executive functioning. METHODS: A familiar and unfamiliar examiner separately engaged in socially demanding tasks comprising three experimental conditions with a group of individuals with CdLS (n = 25; % male = 44; mean age = 22...
September 11, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28868921/the-dual-task-effect-on-gait-in-adults-with-intellectual-disabilities-is-it-predictive-for-falls
#3
Alyt Oppewal, Thessa I M Hilgenkamp
PURPOSE: Falling is an important health issue in adults with intellectual disabilities. Their cognitive and motor limitations may result in difficulties with dual tasking (walking and talking), which increases fall risk. Therefore, we assessed the dual task effect on gait in adults with intellectual disabilities, if this dual task effect is predictive for falls, and if this is more predictive than regular walking. METHOD: Gait characteristics of 31 adults with intellectual disabilities without Down syndrome were assessed with the GAITRite at comfortable speed and during dual tasking (conversation)...
September 3, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28867167/pediatric-acute-megakaryoblastic-leukemia-multitasking-fusion-proteins-and-oncogenic-cooperations
#4
REVIEW
Cécile K Lopez, Sébastien Malinge, Muriel Gaudry, Olivier A Bernard, Thomas Mercher
Pediatric leukemia presents specific clinical and genetic features from adult leukemia but the underpinning mechanisms of transformation are still unclear. Acute megakaryoblastic leukemia (AMKL) is the malignant accumulation of progenitors of the megakaryocyte lineage that normally produce blood platelets. AMKL is diagnosed de novo, in patients showing a poor prognosis, or in Down syndrome (DS) patients with a better prognosis. Recent data show that de novo AMKL is primarily associated with chromosomal alterations leading to the expression of fusions between transcriptional regulators...
September 2017: Trends in Cancer
https://www.readbyqxmd.com/read/28859733/hidradenitis-suppurativa-and-concomitant-down-syndrome-literature-review-of-other-associated-mucocutaneous-manifestations-in-adults
#5
Virendra N Sehgal, Naresh Sehgal, Ruchi Sehgal
This contribution describes hidradenitis suppurativa (HS) occurring in Down disease that presented with morphology conforming to an overlap of stages 1 and 2 of the Hurley staging system, namely the formation of solitary or multiple isolated abscesses without scarring or sinus tracts, recurrent abscesses, and single or multiple widely separated lesions with sinus tract formation, occupying apocrine sweat gland-bearing areas: the inner thighs, groin, and buttocks. The lesions were bilateral and symmetrical, of rare occurrence...
2017: Skinmed
https://www.readbyqxmd.com/read/28857390/challenges-in-measuring-the-effects-of-pharmacological-interventions-on-cognitive-and-adaptive-functioning-in-individuals-with-down-syndrome-a-systematic-review
#6
REVIEW
Lori A Keeling, Gail A Spiridigliozzi, Sarah J Hart, Jane A Baker, Harrison N Jones, Priya S Kishnani
We systematically reviewed the measures used in pharmaceutical trials in children/adults with Down syndrome without dementia. Our purpose was to identify developmentally appropriate outcome measures capable of detecting changes in cognitive and adaptive functioning in this population. Eleven studies were included and used diverse outcome measures across the domains of language, memory, attention, behavior, and executive/adaptive functioning. Our results highlight the challenges in selecting measures capable of capturing improvements in pharmaceutical trials in individuals with DS...
August 31, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28856789/longitudinal-telomere-shortening-and-early-alzheimer-s-disease-progression-in-adults-with-down-syndrome
#7
Edmund C Jenkins, Elaine J Marchi, Milen T Velinov, Lingling Ye, Sharon J Krinsky-McHale, Warren B Zigman, Nicole Schupf, Wayne P Silverman
Telomere shortening was shown to parallel Alzheimer's disease (AD) associated dementia. By using a dual PNA Probe system we have developed a practical method for comparing telomere length in T-lymphocyte interphases from individuals with Down syndrome (DS) with and without "mild cognitive impairment" (MCI-DS) and demonstrated that telomere length can serve as a valid biomarker for the onset of MCI-DS in this high-risk population. To verify progressive cognitive decline we have now examined sequential changes in telomere length in 10 adults with DS (N = 4 Female, N = 6 Male) developing MCI-DS...
August 30, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28852159/loss-of-the-podocyte-glucocorticoid-receptor-exacerbates-proteinuria-after-injury
#8
Han Zhou, Xuefei Tian, Alda Tufro, Gilbert Moeckel, Shuta Ishibe, Julie Goodwin
Nephrotic syndrome is a common disorder in adults and children whose etiology is largely unknown. Glucocorticoids remain the mainstay of therapy in most cases, though their mechanism of action remains poorly understood. Emerging evidence suggests that immunomodulatory therapies used in nephrotic syndrome directly target the podocytes. To study how steroids directly affect the podocytes in the treatment of proteinuria, we created a mouse model with podocyte-specific deletion of the glucocorticoid receptor. The podocyte-specific glucocorticoid receptor (GR) knockout mice had similar renal function and protein excretion compared to wild type...
August 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28842136/philadelphia-chromosome-like-acute-lymphoblastic-leukemia
#9
REVIEW
Ching-Hon Pui, Kathryn G Roberts, Jun J Yang, Charles G Mullighan
Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) is a recently described B-cell precursor ALL with a gene expression profile and a high frequency of IKZF1 gene alteration similar to that of Ph-positive ALL. Its prevalence is approximately 12% in children, 21% in adolescents (16-20 years of age), and 20% to 24% in adults older than 40 years, with a peak (27%) in young adults 21 to 39 years old. It occurs more often in male individuals and patients with Down syndrome. Ph-like ALL is overrepresented in those with Hispanic ethnicity and is associated with inherited genetic variants in GATA3 (rs3824662)...
August 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/28838601/fetal-alcohol-spectrum-disorders-what-pediatric-providers-need-to-know
#10
Angela Nash, Leah Davies
Prenatal alcohol exposure is the cause of fetal alcohol spectrum disorders (FASDs), the prevalence of which is similar to that of other developmental disabilities like Down syndrome and autism. Children, adolescents, and adults who live with the disabilities associated with prenatal alcohol exposure face extraordinary challenges throughout their lives. Pediatric providers need to be able to identify patients with FASD because early recognition and intervention is known to improve life outcomes for affected individuals...
September 2017: Journal of Pediatric Health Care
https://www.readbyqxmd.com/read/28825767/clinical-and-parental-status-of-patients-with-congenital-heart-disease-associated-pulmonary-arterial-hypertension
#11
Amiram Nir, Neville Berkman, Sagui Gavri
BACKGROUND: Pulmonary arterial hypertension (PAH) is a significant consequence of congenital heart disease (CHD). Its presence and severity is associated with increased morbidity and mortality. OBJECTIVES: To evaluate the clinical and demographic characteristics of adults with congenital heart diseases (ADCHD) and PAH at a single center. METHODS: A prospective registry of all patients with PAH was conducted between 2009 and 2015. RESULTS: Thirty-two patients were identified...
August 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28818303/nkcc1-chloride-importer-antagonists-attenuate-many-neurological-and-psychiatric-disorders
#12
REVIEW
Yehezkel Ben-Ari
In physiological conditions, adult neurons have low intracellular Cl(-) [(Cl(-))I] levels underlying the γ-aminobutyric acid (GABA)ergic inhibitory drive. In contrast, neurons have high (Cl(-))I levels and excitatory GABA actions in a wide range of pathological conditions including spinal cord lesions, chronic pain, brain trauma, cerebrovascular infarcts, autism, Rett and Down syndrome, various types of epilepsies, and other genetic or environmental insults. The diuretic highly specific NKCC1 chloride importer antagonist bumetanide (PubChem CID: 2461) efficiently restores low (Cl(-))I levels and attenuates many disorders in experimental conditions and in some clinical trials...
August 14, 2017: Trends in Neurosciences
https://www.readbyqxmd.com/read/28815878/prediction-of-energy-expenditure-during-walking-in-adults-with-down-syndrome
#13
Stamatis Agiovlasitis, Goncalo V Mendonca, Jeffrey A McCubbin, Bo Fernhall
BACKGROUND: When developing walking programmes for improving health in adults with Down syndrome (DS), physical activity professionals are in need of an equation for predicting energy expenditure. We therefore developed and cross-validated an equation for predicting the rate of oxygen uptake (VO2 ; an index of energy expenditure) for adults with and without DS. METHOD: A total of 469 VO2 observations during walking across different speeds were available from 54 adults with DS and 61 adults without DS...
August 16, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28814979/executive-functioning-in-cornelia-de-lange-syndrome-domain-asynchrony-and-age-related-performance
#14
Donna Reid, Jo Moss, Lisa Nelson, Laura Groves, Chris Oliver
BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28806899/executive-functioning-in-cornelia-de-lange-syndrome-domain-asynchrony-and-age-related-performance
#15
Donna Reid, Jo Moss, Lisa Nelson, Laura Groves, Chris Oliver
BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests...
August 15, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28806354/trends-in-adult-chlamydia-and-gonorrhea-prevalence-incidence-and-urethral-discharge-case-reporting-in-morocco-over-1995-2015-estimates-using-the-spectrum-sexually-transmitted-infection-model
#16
Amina El-Kettani, Guy Mahiané, Aziza Bennani, Laith Abu-Raddad, Alex Smolak, Jane Rowley, Nico Nagelkerke, Houssine El-Rhilani, Kamal Alami, Amina Hançali, Eline Korenromp
BACKGROUND: Evolving health priorities and resource constraints mean that countries require data on sexually transmitted infections (STI) trends to inform program planning and resource allocation. METHODS: The Spectrum modeling tool estimated prevalence and incidence of gonorrhea and chlamydia in Morocco's 15- to 49-year-old population, based on prevalence surveys. Incident cases, broken down between symptomatic and asymptomatic, and treated versus untreated, were compared with urethral discharge (UD) case reports, to estimate reporting completeness among treated UD cases...
September 2017: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/28795347/health-related-quality-of-life-in-individuals-with-down-syndrome-results-from-a-non-interventional-longitudinal-multi-national-study
#17
Diana Rofail, Daniel Froggatt, Rafael de la Torre, Jamie Edgin, Priya Kishnani, Renaud Touraine, Sarah Whitwham, Lisa Squassante, Omar Khwaja, Xavier Liogier D'Ardhuy
INTRODUCTION: To date, there is little research on health-related quality of life (HRQoL) in Down syndrome (DS), and existing research is variable with regard to reported HRQoL in DS. There are also no HRQoL measures developed specifically to be used with individuals with Down syndrome. METHODS: A multi-national, longitudinal, 24-week non-interventional study was conducted in adolescents and adults with DS. HRQoL was assessed (n = 90) using the parent-report KIDSCREEN-27 questionnaire...
August 9, 2017: Advances in Therapy
https://www.readbyqxmd.com/read/28782273/up-regulation-of-transient-receptor-potential-vanilloid-trpv-and-down-regulation-of-brain-derived-neurotrophic-factor-bdnf-expression-in-patients-with-functional-dyspepsia-fd
#18
C K Y Cheung, L L Lan, M Kyaw, A D P Mak, A Chan, Y Chan, J C Y Wu
BACKGROUND: The role of immune activation in Functional Dyspepsia (FD) patients without previous infection is unclear. We compare the gastric and circulating brain-derived neurotropic factor (BDNF), receptor potential vanilloid type (TRPV) families and various cytokines in FD patients. METHODS: Consecutive adult FD patients (Rome III) with no recent history of gastroenteritis and asymptomatic healthy controls were recruited for upper endoscopy. Subjects with GERD and IBS as predominant symptoms, diabetes mellitus, current or previous Helicobacter pylori infection, psychiatric illness and recent use of NSAID or PPI were excluded...
August 7, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28780228/relation-of-pedometer-steps-count-self-reported-physical-activity-with-health-indices-in-middle-aged-adults
#19
Nusrat Jahan, Shweta Shenoy
OBJECTIVE: To describe the relationship between daily physical activity (steps/day and self report method) and health indices. Also to observe relationship between daily physical activity and existence of any prior sign of metabolic syndrome in middle aged adults of 40-60 years. A secondary objective was to observe relation between objective (steps/day) and subjective (IPAQ) measure of physical activity. METHOD: 145 subjects were recruited from residential colony of New Delhi, India and their health indices (waist circumference, hip circumference, waist hip ratio, blood pressure, resting heart rate), and presence of any sign of metabolic syndrome were noted down...
July 22, 2017: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/28758309/lifestyle-factors-and-alzheimer-s-disease-in-people-with-down-syndrome
#20
Athena V Kenshole, Deanna Gallichan, Sabine Pahl, John Clibbens
BACKGROUND: Lifestyle has previously been associated with the onset of Alzheimer's disease (AD) in the typically developing population, but research investigating this association in Down syndrome (DS) is limited. METHOD: Adults with DS and AD (n = 27) were compared to adults with DS without AD (n = 30) on physical activity, diet, weight, where participants currently lived, where participants had lived for the majority of their lives, educational attainment, occupational attainment and cognitive activity...
July 30, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
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