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https://www.readbyqxmd.com/read/28746920/assessing-the-clinical-utility-of-snp-microarray-for-prader-willi-syndrome-due-to-uniparental-disomy
#1
Stephanie L Santoro, Sayaka Hashimoto, Aimee McKinney, Theresa Mihalic Mosher, Robert Pyatt, Shalini C Reshmi, Caroline Astbury, Scott E Hickey
Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. Current diagnostic algorithms differ regarding the use of SNP microarray to detect PWS. We retrospectively examined the frequency with which SNP microarray could identify regions of homozygosity (ROH) in patients with PWS. We determined that 7/12 (58%) patients with previously confirmed PWS by methylation analysis and microsatellite-positive UPD studies had ROH (>10 Mb) by SNP microarray...
July 27, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28721467/a-review-of-the-safety-efficacy-and-mechanisms-of-delivery-of-nasal-oxytocin-in-children-therapeutic-potential-for-autism-and-prader-willi-syndrome-and-recommendations-for-future-research
#2
Marilena M DeMayo, Yun Ju C Song, Ian B Hickie, Adam J Guastella
In this article, we conduct a comprehensive review of existing evidence for the safety and therapeutic potential of intranasal oxytocin in pediatric populations. Unique considerations for dosing and delivery of oxytocin to the nasal passageway in pediatric populations and methods to promote adherence are reviewed. Intranasal oxytocin has been administered to 261 children in three open-label studies and eight randomized controlled trials. To date, the only published results in pediatric populations have focused on autism spectrum disorder (ASD) and Prader-Willi syndrome (PWS)...
July 18, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28713293/predicting-future-high-cost-schizophrenia-patients-using-high-dimensional-administrative-data
#3
Yajuan Wang, Vijay Iyengar, Jianying Hu, David Kho, Erin Falconer, John P Docherty, Gigi Y Yuen
BACKGROUND: The burden of serious and persistent mental illness such as schizophrenia is substantial and requires health-care organizations to have adequate risk adjustment models to effectively allocate their resources to managing patients who are at the greatest risk. Currently available models underestimate health-care costs for those with mental or behavioral health conditions. OBJECTIVES: The study aimed to develop and evaluate predictive models for identification of future high-cost schizophrenia patients using advanced supervised machine learning methods...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28697606/dysphonia-in-adults-with-developmental-stuttering-a-descriptive-study
#4
Anél Botha, Elizbé Ras, Shabnam Abdoola, Jeannie Van der Linde
BACKGROUND: Persons with stuttering (PWS) often present with other co-occurring conditions. The World Health Organization's (WHO) International Classification of Functioning, Disability and Health (ICF) proposes that it is important to understand the full burden of a health condition. A few studies have explored voice problems among PWS, and the characteristics of voices of PWS are relatively unknown. The importance of conducting future research has been emphasised. OBJECTIVES: This study aimed to describe the vocal characteristics of PWS...
June 26, 2017: South African Journal of Communication Disorders. die Suid-Afrikaanse Tydskrif Vir Kommunikasieafwykings
https://www.readbyqxmd.com/read/28694852/does-the-genetic-cause-of-prader-willi-syndrome-explain-the-highly-variable-phenotype
#5
Andreea-Iulia Dobrescu, Adela Chirita-Emandi, Nicoleta Andreescu, Simona Farcas, Maria Puiu
INTRODUCTION: Prader-Willi syndrome (PWS) is characterized by extensive clinical and genetic variability caused by lack of expression of imprinted genes of the chromosomal region 15q11.2-q13. The genotye-phenotype correlation has not been yet fully elucidated. AIM: To analyze these correlations in order to determine the role of specifi c geneic alterations in the development of clinical symptoms in PWS. MATERIAL AND METHOD: We retrospectively analyzed data routinely collected as part of the clinical care of 52 patients with clinical suspicion of PWS...
September 2016: Mædica
https://www.readbyqxmd.com/read/28692722/effective-dynamic-range-and-retest-reliability-of-dark-adapted-two-color-fundus-controlled-perimetry-in-patients-with-macular-diseases
#6
Maximilian Pfau, Moritz Lindner, Philipp L Müller, Johannes Birtel, Robert P Finger, Wolf M Harmening, Monika Fleckenstein, Frank G Holz, Steffen Schmitz-Valckenberg
Purpose: To determine the effective dynamic range (EDR), retest reliability, and number of discriminable steps (DS) for mesopic and dark-adapted two-color fundus-controlled perimetry (FCP) using the S-MAIA (Scotopic-Macular Integrity Assessment) "micro-perimeter." Methods: In this prospective cross-sectional study, each of the 52 eyes of 52 subjects with various macular diseases (mean age 62.0 ± 16.9 years; range, 19.1-90.1 years) underwent duplicate mesopic (achromatic stimuli, 400-800 nm), dark-adapted cyan (505 nm), and dark-adapted red (627 nm) FCP using a grid of 61 stimuli covering 18° of the central retina...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28688302/effects-of-gait-speed-on-the-body-s-center-of-mass-motion-relative-to-the-center-of-pressure-during-over-ground-walking
#7
Hsuan-Lun Lu, Mei-Ying Kuo, Chu-Fen Chang, Tung-Wu Lu, Shih-Wun Hong
Preferred walking speed (PWS) reflects the integrated performance of the relevant physiological sub-systems, including energy expenditure. It remains unclear whether the PWS during over-ground walking is chosen to optimize one's balance control because studies on the effects of speed on the body's balance control have been limited. The current study aimed to bridge the gap by quantifying the effects of the walking speed on the body's center of mass (COM) motion relative to the center of pressure (COP) in terms of the changes and directness of the COM-COP inclination angle (IA) and its rate of change (RCIA)...
July 5, 2017: Human Movement Science
https://www.readbyqxmd.com/read/28687953/the-effect-of-treadmill-and-overground-walking-on-preferred-walking-speed-and-gait-kinematics-in-healthy-physically-active-older-adults
#8
Davide Malatesta, Mosè Canepa, Aitor Menendez Fernandez
PURPOSE: Preferred walking speed (PWS) represents a performance measure of mobility in older individuals. PWS is usually assessed during overground (via a 2-40 m walkway) or treadmill walking in older adults. The aim of this study was to compare the effect of treadmill and overground walking on preferred walking speed, spatiotemporal parameters and foot kinematics in healthy, physically active older and young adults after adequate treadmill familiarization. METHODS: PWS and spatiotemporal parameters were assessed during overground (PWSO) and treadmill (PWST) walking using two wearable inertial sensor systems and were compared between 25 older (72...
July 7, 2017: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/28682308/survival-trends-from-the-prader-willi-syndrome-association-usa-40-year-mortality-survey
#9
Ann M Manzardo, James Loker, Janalee Heinemann, Carolyn Loker, Merlin G Butler
PurposePrader-Willi syndrome (PWS) is a complex genetic disorder characterized by hyperphagia and morbid obesity with increased cardiopulmonary and hyperphagia-related mortality. Survival trends in PWS were evaluated to assess the impact of modern interventions on mortality risk.MethodsThe Prader-Willi Syndrome Association (USA) 40-year mortality syndrome-specific database of 486 death reports was utilized to examine survival trends in PWS and cohort effects for recent deaths (years 2000-2015, N=331) relative to deaths prior to 2000 (N=94)...
July 6, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28673821/the-effects-of-chemical-fixation-on-the-cellular-nanostructure
#10
Yue Li, Luay M Almassalha, John E Chandler, Xiang Zhou, Yolanda E Stypula-Cyrus, Karl A Hujsak, Eric W Roth, Reiner Bleher, Hariharan Subramanian, Igal Szleifer, Vinayak P Dravid, Vadim Backman
Chemical fixation is nearly indispensable in the biological sciences, especially in circumstances where cryo-fixation is not applicable. While universally employed for the preservation of cell organization, chemical fixatives often introduce artifacts that can confound identification of true structures. Since biological research is increasingly probing ever-finer details of the cellular architecture, it is critical to understand the nanoscale transformation of the cellular organization due to fixation both systematically and quantitatively...
June 30, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28672951/hypothalamic-pituitary-adrenal-axis-hypersensitivity-in-female-rats-on-a-post-weaning-high-fat-diet-after-chronic-mild-stress
#11
Lian Liu, Junqiang Yang, Feng Qian, Chengbiao Lu
A high-fat diet (HFD) is highly correlated to obesity, metabolic diseases and certain behavioral changes. However, the effects of post-weaning HFD in rats during puberty and the role of the hypothalamic-pituitary-adrenal (HPA) axis in this process have remained elusive. The present study hypothesized that the HPA axis mediates the behavioral alterations induced by a post-weaning HFD. To investigate this, female rats were divided into two groups, one of which was fed a HFD from postnatal weeks (PWs) 4-12, while the other group received standard chow...
July 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28666818/morphological-and-biomechanical-features-in-abdominal-aortic-aneurysm-with-long-and-short-neck-case-control-study-in-64-abdominal-aortic-aneurysms
#12
I Koncar, D Nikolic, Z Milosevic, N Ilic, M Dragas, M Sladojevic, M Markovic, N Filipovic, L Davidovic
INTRODUCTION: Both, open and endovascular, procedures are related to higher complication rate in abdominal aortic aneurysm (AAA) with shorter neck. Previous study showed that long neck AAA might have lower risk of rupture. Estimation of biomechanical forces in AAA improves rupture risk assessment. Aim of this study was to compare morphological features and biomechanical forces in the short and long neck AAA with threshold of 15mm. METHODS: DICOM images of 64 aneurysms were prospectively collected and analyzed in a case control study...
June 27, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28663834/dermoscopy-guided-dark-field-multi-functional-optical-coherence-tomography
#13
Soonjae Kwon, Yeoreum Yoon, Bumju Kim, Won Hyuk Jang, Byungho Oh, Kee Yang Chung, Ki Hean Kim
Dermoscopy is a skin surface microscopic technique allowing specular reflection free observation of the skin, and has been used to examine pigmented skin lesions. However, dermoscopy has limitations in providing depth information due to lack of 3D resolution. In order to overcome the limitations, we developed dermoscopy guided multi-functional optical coherence tomography (MF-OCT) providing both high-contrast superficial information and depth-resolved structural, birefringent, and vascular information of the skin simultaneously...
March 1, 2017: Biomedical Optics Express
https://www.readbyqxmd.com/read/28660389/clinical-and-molecular-characterization-of-prader-willi-syndrome
#14
G N Sanjeeva, Madhuri Maganthi, Himabindu Kodishala, Rohit Kumar R Marol, Pooja S Kulshreshtha, Elisa Lorenzetto, Jayarama S Kadandale, Uros Hladnik, P Raghupathy, Meenakshi Bhat
OBJECTIVES: To describe the clinical presentations and molecular diagnosis to aid the clinicians in early diagnosis and appropriate management of Prader-Willi syndrome (PWS). METHODS: Thirty-four clinically diagnosed PWS cases were enrolled after obtaining informed consent/assent. Demographic details, clinical data and anthropometry were recorded using structured proforma. The facial dysmorphology was evaluated. Appropriate genetic testing was performed to confirm the diagnosis...
June 29, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28659728/hedonic-eating-in-prader-willi-syndrome-is-associated-with-blunted-pyy-secretion
#15
A E Rigamonti, S Bini, F Piscitelli, A Lauritano, V Di Marzo, C Vanetti, F Agosti, A De Col, E Lucchetti, G Grugni, A Sartorio
Hedonic and homeostatic hunger represent two different forms of eating: just for pleasure or following energy deprivation, respectively. Consumption of food for pleasure was reported to be associated with increased circulating levels of both the orexigenic peptide ghrelin and some specific endocannabinoids in normal-weight subjects and patients with morbid obesity. To date, the effects of palatable food on these mediators in Prader-Willi syndrome (PWS) are still unknown. To explore the role of some gastrointestinal orexigenic and anorexigenic peptides and endocannabinoids (and some related congeners) in chocolate consumption, we measured changes in circulating levels of ghrelin, cholecystokinin (CCK), peptide YY (PYY), anandamide (AEA), 2-arachidonoyl-glycerol (2-AG), palmitoylethanolamide (PEA) and oleoylethanolamide (OEA) in eight satiated adult PWS patients after consumption of chocolate and, on a separate day, of a non-palatable isocaloric food with the same macronutrient composition...
2017: Food & Nutrition Research
https://www.readbyqxmd.com/read/28659150/early-diagnosis-and-care-is-achieved-but-should-be-improved-in-infants-with-prader-willi-syndrome
#16
Céline Bar, Gwenaelle Diene, Catherine Molinas, Eric Bieth, Charlotte Casper, Maithé Tauber
BACKGROUND: PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed the birth incidence and care of infants with early diagnosis. METHODS: Data were collected on 61 infants with a molecular diagnosis of PWS born in 2012 and 2013 in France. RESULTS: Thirty-eight infants with PWS were born in 2013. The median age at diagnosis was 18 days. Birth incidence calculated for 2013 was 1/21,000 births...
June 28, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28657379/a-new-imaging-technique-for-assessment-of-the-effectiveness-of-long-pulse-nd-yag-532-nm-laser-in-treatment-of-facial-port-wine-stain
#17
Murtadha Hashim Al-Janabi, Noor Taha Ismaeel Ali, Karrar Dheiaa Mohammed, Muhsin A Al-Dhalimi, Sahib Neamh Abdul Wahid
BACKGROUND: PWS is a vascular malformation presented at birth and associated with a psychological problem to the patients. Many types the laser systems were used to solve this problem. AIM OF THE STUDY: to assess the efficacy of long-pulsed Nd:YAG 532 nm for the treatment of port wine stain both clinically and by imaging technique. PATIENTS AND METHODS: This is an Interventional therapeutic clinical study for the treatment of facial port-twine stain with long-pulsed, 532nm, Nd:YAG laser...
June 28, 2017: Journal of Cosmetic and Laser Therapy: Official Publication of the European Society for Laser Dermatology
https://www.readbyqxmd.com/read/28652904/successful-treatment-of-unilateral-klippel-trenaunay-syndrome-with-pulsed-dye-laser-in-a-2-week-old-infant
#18
Hoda Rahimi, Habib Hassannejad, Hamideh Moravvej
Introduction: Klippel-Trenaunay syndrome (KTS) is a rare congenital mesodermal abnormality characterized by varicose veins, cutaneous capillary malformation, as well as bone and soft tissue hypertrophy. Case Report: A 2-week-old female infant presented to our clinic because of vascular nevus and progressive enlargement of her right extremities and trunk since birth. The patient was treated with 595-nm pulsed-dye laser (PDL). Her port-wine stain (PWS) disappeared completely after third PDL session and the soft tissue hypertrophy stopped...
2017: Journal of Lasers in Medical Sciences
https://www.readbyqxmd.com/read/28650740/in-vivo-investigation-of-the-safety-and-efficacy-of-pulsed-dye-laser-with-two-spot-sizes-in-port-wine-stain-treatment-a-prospective-side-by-side-comparison
#19
Wenxin Yu, Hanru Ying, Yijie Chen, Yajing Qiu, Hui Chen, Yunbo Jin, Xi Yang, Tianyou Wang, Gang Ma, Xiaoxi Lin
OBJECTIVE: Pulsed dye laser (PDL) with 7 and 10 mm spot sizes is widely used on a regular basis for the treatment of port-wine stain (PWS). BACKGROUND DATA: No studies have reported on the differences in efficacy outcomes resulting from the use of different laser spot sizes in the treatment of PWS by PDL. Thus, an in vivo investigation into the differences in safety and efficacy of treatment between two spot sizes (7 mm vs. 10 mm) of PWS by PDL was conducted...
May 31, 2017: Photomedicine and Laser Surgery
https://www.readbyqxmd.com/read/28648465/planum-temporale-asymmetry-in-people-who-stutter
#20
Patricia M Gough, Emily L Connally, Peter Howell, David Ward, Jennifer Chesters, Kate E Watkins
PURPOSE: Previous studies have reported that the planum temporale - a language-related structure that normally shows a leftward asymmetry - had reduced asymmetry in people who stutter (PWS) and reversed asymmetry in those with severe stuttering. These findings are consistent with the theory that altered language lateralization may be a cause or consequence of stuttering. Here, we re-examined these findings in a larger sample of PWS. METHODS: We evaluated planum temporale asymmetry in structural MRI scans obtained from 67 PWS and 63 age-matched controls using: 1) manual measurements of the surface area; 2) voxel-based morphometry to automatically calculate grey matter density...
June 16, 2017: Journal of Fluency Disorders
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