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https://www.readbyqxmd.com/read/29439846/diagnostic-challenge-for-the-rare-lysosomal-storage-disease-late-infantile-gm1-gangliosidosis
#1
Jin Sook Lee, Jong-Moon Choi, Moses Lee, Soo Yeon Kim, Sangmoon Lee, Byung Chan Lim, Jung-Eun Cheon, In-One Kim, Ki Joong Kim, Murim Choi, Moon-Woo Seong, Jong-Hee Chae
BACKGROUND: GM1 gangliosidosis is a rare lysosomal storage disorder caused by GLB1 mutations. Because of its extreme rarity and symptoms that overlap with other neurodegenerative diseases, its diagnosis is sometimes challenging, especially in the late infantile form with less severe phenotype. We aim to expand the clinical and genetic spectrum of late infantile GM1 gangliosidosis. METHODS: We confirmed a diagnosis of GM1 gangliosidosis based on GLB1 mutations and/or the deficiency of β-galactosidase activity...
February 10, 2018: Brain & Development
https://www.readbyqxmd.com/read/29438912/spatial-and-temporal-analysis-center-of-pressure-displacement-during-adolescence-clinical-implications-of-developmental-changes
#2
Catherine Quatman-Yates, Scott Bonnette, Resmi Gupta, Jason A Hugentobler, Shari L Wade, Tracy A Glauser, Richard F Ittenbach, Mark V Paterno, Michael A Riley
This study aimed to provide insight into the development of postural control abilities in youth. A total of 276 typically developing adolescents (155 males, 121 females) with a mean age of 13.23 years (range of 7.11-18.80) were recruited for participation. Subjects performed two-minute quiet standing trials in bipedal stance on a force plate. Center of pressure (COP) trajectories were quantified using Sample Entropy (SampEn) in the anterior-posterior direction (SampEn-AP), SampEn in the medial-lateral direction (SampEn-ML), and Path Length (PL) measures...
February 10, 2018: Human Movement Science
https://www.readbyqxmd.com/read/29438131/improved-neurodevelopment-following-antiretroviral-therapy-in-hiv-infected-children
#3
Laurén A Gómez, Claudia S Crowell, Irene Njuguna, Lisa M Cranmer, Dalton Wamalwa, Daisy Chebet, Vincent Otieno, Elizabeth Maleche-Obimbo, Melissa Gladstone, Grace John-Stewart, Sarah Benki-Nugent
BACKGROUND: Late HIV diagnosis following severe co-morbidity remains common in resource limited settings. Neurodevelopmental recovery during antiretroviral therapy (ART) for late-diagnosed children is understudied. We determined 6-month neurodevelopmental trajectories in HIV-infected children initiating ART during hospitalization. METHODS: HIV-infected children initiated ART following HIV diagnosis during hospitalization in Kenya. The Malawi Developmental Assessment Tool (MDAT) was administered after clinical stabilization within 1-month and at 6-months post-ART initiation...
February 12, 2018: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/29436982/examining-the-association-between-executive-functions-and-developmental-domains-of-low-income-children-in-the-united-states-and-turkey
#4
Mubeccel Gonen, Tulin Guler-Yildiz, Ayca Ulker-Erdem, Aileen Garcia, Helen Raikes, Ibrahim H Acar, Feyza Ozkan-Yildiz, Ipek Karlidag, Sukran Ucus, Dawn L Davis
This study examined the relations between executive functions and developmental domains of preschool children from low-income families through an intercultural perspective in the U.S. and Turkey. A total of 471 children and their primary caregivers participated in the Turkey part of the study, while 286 children and their parents engaged in U.S. SAMPLE: Regression analyses revealed that fine motor, problem solving, and executive functions of children between two contexts were significantly different from each other...
January 1, 2018: Psychological Reports
https://www.readbyqxmd.com/read/29435126/quantitative-metabolomics-for-investigating-the-value-of-polyamines-in-the-early-diagnosis-and-therapy-of-colorectal-cancer
#5
Ran Liu, Xiaohui Lin, Zuojing Li, Qing Li, Kaishun Bi
As an important biomarker for cancer, polyamine levels in body fluid could be employed for monitoring the colorectal cancer (CRC), however the role of polyamines in the development and therapeutics phases of CRC remains uncertain. In this paper, the relationship between polyamines and CRC development and therapeutics had been investigated by the study of changes in plasma polyamine levels during the precancerous, developmental and treatment phases of CRC. After inducing CRC in Wistar rats by intraperitoneal injection of 1, 2-dimethylhydrazine, the animals were given a traditional Chinese medicine, Aidi injections...
January 12, 2018: Oncotarget
https://www.readbyqxmd.com/read/29433976/rate-of-deficit-accumulation-in-home-care-users-with-intellectual-and-developmental-disabilities
#6
Hélène Ouellette-Kuntz, Lynn Martin, Katherine McKenzie
PURPOSE: To identify factors associated with the rate of deficit accumulation in a population of adults with intellectual and developmental disabilities (IDD). METHODS: A longitudinal analysis of administratively held clinical data collected at routine home care assessments across Ontario (Canada) using the Resident Assessment Instrument for Home Care (RAI-HC) was conducted using a cohort comprised of 5074 adults with IDD 18-99 years of age who had at least two home care assessments between April 1, 2003 and March 31, 2015...
January 31, 2018: Annals of Epidemiology
https://www.readbyqxmd.com/read/29433889/psychiatric-disease-in-surgically-treated-colorectal-cancer-patients
#7
Vanessa P Ho, Emily Steinhagen, Kelsey Angell, Suparna M Navale, Nicholas K Schiltz, Andrew P Reimer, Elizabeth A Madigan, Siran M Koroukian
BACKGROUND: Underlying psychiatric conditions may affect outcomes of surgical treatment for colorectal cancer (CRC) because of complex clinical presentation and treatment considerations. We hypothesized that patients with psychiatric illness (PSYCH) would have evidence of advanced disease at presentation, as manifested by higher rates of colorectal surgery performed in the presence of obstruction, perforation, and/or peritonitis (OPP-surgery). MATERIALS AND METHODS: Using data from the 2007-2011 National Inpatient Sample, we identified patients with a diagnosis of CRC undergoing colorectal surgery...
March 2018: Journal of Surgical Research
https://www.readbyqxmd.com/read/29433666/similarities-and-differences-in-child-development-from-birth-to-age-3-years-by-sex-and-across-four-countries-a-cross-sectional-observational-study
#8
Ilgi Ozturk Ertem, Vibha Krishnamurthy, Mphelekedzeni C Mulaudzi, Yanina Sguassero, Hakan Balta, Ozlem Gulumser, Burcu Bilik, Roopa Srinivasan, Benjamin Johnson, Geliang Gan, Lisa Calvocoressi, Veronika Shabanova, Brian W C Forsyth
BACKGROUND: Knowledge about typical development is of fundamental importance for understanding and promoting child health and development. We aimed to ascertain when healthy children in four culturally and linguistically different countries attain developmental milestones and to identify similarities and differences across sexes and countries. METHODS: In this cross-sectional, observational study, we recruited children aged 0-42 months and their caregivers between March 3, 2011, and May 18, 2015, at 22 health clinics in Argentina, India, South Africa, and Turkey...
March 2018: Lancet Global Health
https://www.readbyqxmd.com/read/29429769/neurodevelopmental-outcomes-of-infants-with-esophageal-atresia-and-tracheoesophageal-fistula
#9
Wegdan Mawlana, Paul Zamiara, Hilary Lane, Margaret Marcon, Eveline Lapidus-Krol, Priscilla Pl Chiu, Aideen M Moore
BACKGROUND: Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is a complex disorder, and most outcome data are confined to mortality and feeding-related morbidities. Our objective was to examine mortality, growth and neurodevelopmental outcomes in a large recent cohort of infants with EA/TEF. METHODS: Single center study of EA/TEF infants referred from January 2000 to December 2015. Data collected included associated defects, neonatal morbidity and mortality and growth and neurodevelopmental outcomes at age 12-36months...
January 31, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29428208/gender-differences-in-tobacco-use-among-u-s-special-olympics-athletes
#10
Elaine Eisenbaum, Diana M DiNitto, Lauren Bishop-Fitzpatrick
BACKGROUND: The rise in women's tobacco use and subsequent health complications has generated an increase in gender-related tobacco use research. However, no research has examined gender's influence on tobacco use among people with intellectual and developmental disabilities (IDD). OBJECTIVE: To examine 1) tobacco use prevalence rates among men and women with IDD, and 2) correlates of tobacco use among men and women with IDD. METHODS: This study examined gender differences in tobacco use among a sample of 3587 adult U...
February 1, 2018: Disability and Health Journal
https://www.readbyqxmd.com/read/29427860/health-care-expenditures-of-overweight-and-obese-u-s-adults-with-intellectual-and-developmental-disabilities
#11
Henan Li, Glenn Fujiura, Sandra Magaña, Susan Parish
BACKGROUND: U.S. adults with intellectual and developmental disabilities (IDD) have poorer health status and greater risks for being overweight and obese, which are major drivers of health care expenditures in the general population. Health care expenditures and IDD have not been studied using nationally representative samples, and the impact of overweight and obesity have not been examined. AIM: Using nationally representative data, we aimed to compare the health care expenditures of not-overweight, overweight and obese U...
February 7, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29426302/the-relationship-of-undernutrition-psychosocial-factors-and-developmental-outcomes-of-children-in-extreme-poverty-in-ethiopia
#12
Berhanu Nigussie Worku, Teklu Gemechu Abessa, Mekitie Wondafrash, Marleen Vanvuchelen, Liesbeth Bruckers, Patrick Kolsteren, Marita Granitzer
BACKGROUND: Extreme poverty is severe deprivation of basic needs and services. Children living in extreme poverty may lack adequate parental care and face increased developmental and health risks. However, there is a paucity of literature on the combined influences of undernutrition and psychosocial factors (such as limited play materials, playground, playtime, interactions of children with their peers and mother-child interaction) on children's developmental outcomes. The main objective of this study was, therefore, to ascertain the association of developmental outcomes and psychosocial factors after controlling nutritional indices...
February 9, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29426064/successful-weight-loss-initiation-and-maintenance-among-adolescents-with-overweight-and-obesity-does-age-matter
#13
D Rancourt, C D Jensen, K M Duraccio, E W Evans, R R Wing, E Jelalian
Treatments for adolescents with overweight/obesity demonstrate mixed success, which may be due to a lack of consideration for developmental changes during this period. Potential developmental differences in weight loss motivations, weight maintenance behaviours and the role of parents in these efforts were examined in a sample of successful adolescent weight losers. Participants enrolled in the Adolescent Weight Control Registry (n = 49) self-reported demographic information and weight history, reasons for weight loss and weight control, weight loss approach and weight maintenance strategies, and perceived parental involvement with weight loss...
February 9, 2018: Clinical Obesity
https://www.readbyqxmd.com/read/29421409/prenatal-exposure-to-glycol-ethers-and-sex-steroid-hormones-at-birth
#14
Charline Warembourg, Anne-Claire Binter, Frank Giton, Jean Fiet, Laurence Labat, Christine Monfort, Cécile Chevrier, Luc Multigner, Sylvaine Cordier, Ronan Garlantézec
BACKGROUND: Glycol ethers (GEs) are oxygenated solvents widely found in occupational and consumer water-based products. Some of them are well-known reproductive and developmental toxicants. OBJECTIVES: To study the variations in circulating sex steroid hormones, measured in cord blood, according to biomarkers of prenatal GE exposure. METHODS: The study population comes from the PELAGIE mother-child cohort, which enrolled pregnant women from Brittany (France, 2002-2006)...
January 31, 2018: Environment International
https://www.readbyqxmd.com/read/29415800/short-sleep-duration-is-weakly-associated-with-carotid-intima-media-thickness-in-adolescents
#15
Jade Wing Sum Li, Chun Ting Au, Kate Ching Ching Chan, Ping Chook, Yun Kwok Wing, Albert Martin Li
OBJECTIVE: To investigate the relationship between sleep duration and carotid intima-media thickness (CIMT) in adolescents. We hypothesized that short sleep duration was associated with an increased CIMT. STUDY DESIGN: This was a cross-sectional study. Healthy participants aged 10-18 years were recruited from a school-based cohort established to examine the prevalence of obstructive sleep apnea in Hong Kong. All participants completed a prospective 7-day sleep diary, underwent anthropometric measurements, overnight polysomnography, and CIMT assessment...
February 5, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29415681/prenatal-and-perinatal-risks-for-late-language-emergence-in-a-population-level-sample-of-twins-at-age-2
#16
Catherine L Taylor, Mabel L Rice, Daniel Christensen, Eve Blair, Stephen R Zubrick
BACKGROUND: Late Language Emergence (LLE) in the first two years of life is one of the most common parental concerns about child development and reasons for seeking advice from health professionals. LLE is much more prevalent in twins (38%) than singletons (20%). In studies of language development in twins without overt disability, adverse prenatal and perinatal environments have been reported to play a lesser role in the etiology of LLE than adverse postnatal environments. However, there is a lack of population-level evidence about prenatal and perinatal risk factors for LLE in twins...
February 7, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29414835/choroidal-thickness-with-swept-source-optical-coherence-tomography-versus-foveal-morphology-in-young-children-with-a-history-of-prematurity
#17
Wadim Bowl, Marianne Bowl, Silke Schweinfurth, Kerstin Holve, Monika Andrassi-Darida, Knut Stieger, Birgit Lorenz
AIM: Comparison of choroidal thickness (CT) and foveal morphology as seen with swept-source optical coherence tomography (SS-OCT) in children with a history of treated or spontaneously regressed retinopathy of prematurity (tROP or srROP) to assess the impact on best-corrected visual acuity (BCVA). METHODS: CT was measured by SS-OCT (DRI-OCT Triton; Topcon, USA) single scans of a 6-mm diameter around the fovea in 17 children with tROP or srROP (4-7 years of age) and compared to 25 controls (age-matched children and adults)...
February 7, 2018: Ophthalmic Research
https://www.readbyqxmd.com/read/29414549/symptoms-of-depression-anxiety-and-stress-in-parents-of-young-children-with-epilepsy-a-case-controlled-population-based-study
#18
Colin Reilly, Patricia Atkinson, Ayesha Memon, Chloe Jones, Lyvia Dabydeen, Krishna B Das, Christopher Gillberg, Brian G R Neville, Rod C Scott
The objective was to provide population-based data on depression, anxiety, and stress in parents of young children with epilepsy and to compare findings with those of parents of developmental-, age-, and gender-matched children with nonepilepsy-related neurodisability (neurological and/or neurodevelopmental concerns). The parents (mothers and fathers) of 47 (89% ascertainment) young children (1-7years) with epilepsy in a defined geographical area of the UK completed the Depression Anxiety Stress Scales - Short Form (DASS-21), a screening measure for depression, anxiety, and stress...
January 25, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29413097/a-cross-sectional-study-of-the-relationship-between-infant-thimerosal-containing-hepatitis-b-vaccine-exposure-and-attention-deficit-hyperactivity-disorder
#19
David A Geier, Janet K Kern, Kristin G Homme, Mark R Geier
Attention-deficit/hyperactivity disorder (ADHD) is characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and interferes with normal functioning in at least two settings. This study evaluated the hypothesis that infant Thimerosal-containing hepatitis B vaccine (T-HepB) exposure would increase the risk of an ADHD diagnosis. This cross-sectional study examined 4393 persons between 13 and 19 years of age from the combined 1999-2004 National Health and Nutritional Examination Survey (NHANES) by analyzing demographic, immunization, socioeconomic, and health-related variables using the SAS system...
March 2018: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/29412467/heavy-episodic-drinking-trajectories-among-underage-young-adult-women-the-role-of-feminine-norms
#20
Derek Kenji Iwamoto, William Corbin, Jennifer Brady, Margaux Grivel, Lauren Clinton, Aylin Kaya, Carl Lejuez
BACKGROUND: Heavy episodic drinking (HED; 4 or more drinks in a 2-hour period) in U.S. college women has increased by 40% in the past 30 years. This dramatic shift suggests that women are "closing the gender gap" and are drinking at rates similar to men. Multidimensional feminine norms, or beliefs and expectations about what it means to be a woman, are theoretically promising and gender-relevant factors that may help account for within-group differences in problematic drinking patterns among this increasingly at-risk group...
February 7, 2018: Alcoholism, Clinical and Experimental Research
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