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https://www.readbyqxmd.com/read/28647735/uniparental-disomy-of-chromosome-15-in-two-cases-by-chromosome-microarray-a-lesson-worth-thinking
#1
Shu Liu, Kaihui Zhang, Fengling Song, Yali Yang, Yuqiang Lv, Min Gao, Yi Liu, Zhongtao Gai
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders caused by loss of function of the imprinted genes at 15q11q13. A 5-7 Mb paternal/maternal deletion of chromosomal region 15q11.2q13 is the major genetic cause of PWS/AS, but in a small group of patients, the PWS/AS phenotype can result from maternal/paternal uniparental disomy (UPD) of chromosome 15. Various mechanisms leading to UPD include gametic complementation, trisomy rescue, and compensatory UPD, which can be inferred from the pattern of uniparental heterodisomy (heteroUPD) or uniparental isodisomy (isoUPD)...
June 24, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28645597/spinal-arteriovenous-malformation-associated-with-parkes-weber-syndrome-report-of-two-cases-and-literature-review
#2
Zi-Fu Li, Qiang Li, Yi Xu, Bo Hong, Qing-Hai Huang, Jian-Min Liu
OBJECTIVE: To present two cases of Parkes Weber syndrome (PWS) with spinal arteriovenous malformation(AVM), and discuss the radiological features and clinical treatment with literature review. METHODS: Clinical data on two PWS patients with spinal AVM was acquired in a prospective follow-up investigation. Clinical manifestations, radiographic features, procedural results and follow-up outcome were collected and reviewed together with literature review. RESULTS: The first patient presented with limb weakness and urinary dysfunction and the second with repetitive subarachnoid hemorrhage followed by paraplegia...
June 20, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28643753/dosimetric-characteristic-of-physical-wedge-versus-enhanced-dynamic-wedge-based-on-monte-carlo-simulations
#3
Seied Rabie Mahdavi, Ghazale Geraily, Ahmad Mostaar, Arman Zia, Golbarg Esmaili, Somayeh Farahani
AIM OF STUDY: Physical wedges (PWs) are widely used in radiotherapy to obtain tilted isodose curves, but they alter beam quality. Dynamic wedges (DWs) using moving collimator overcome this problem, but measuring their beam data is not simple. The main aim of this study is to obtain all dosimetric parameters of DWs produced by Varian 2100CD with Monte Carlo simulation and compare them to those from PWs. SUBJECTS AND METHODS: To simulate 6 MV photon beams equipped with PW and DW, BEAMnrc code was used...
April 2017: Journal of Cancer Research and Therapeutics
https://www.readbyqxmd.com/read/28642779/mitigating-groundwater-depletion-in-north-china-plain-with-cropping-system-that-alternate-deep-and-shallow-rooted-crops
#4
Xiao-Lin Yang, Yuan-Quan Chen, Tammo S Steenhuis, Steven Pacenka, Wang-Sheng Gao, Li Ma, Min Zhang, Peng Sui
In the North China Plain, groundwater tables have been dropping at unsustainable rates of 1 m per year due to irrigation of a double cropping system of winter wheat and summer maize. To reverse the trend, we examined whether alternative crop rotations could save water. Moisture contents were measured weekly at 20 cm intervals in the top 180 cm of soil as part of a 12-year field experiment with four crop rotations: sweet potato→ cotton→ sweet potato→ winter wheat-summer maize (SpCSpWS, 4-year cycle); peanuts → winter wheat-summer maize (PWS, 2-year cycle); ryegrass-cotton→ peanuts→ winter wheat-summer maize (RCPWS, 3-year cycle); and winter wheat-summer maize (WS, each year)...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28641172/the-impact-of-speed-and-time-on-gait-dynamics
#5
Kathleen S Thomas, Daniel M Russell, Bonnie L Van Lunen, Sheri R Colberg, Steven Morrison
To determine the effects of speed on gait previous studies have examined young adults walking at different speeds; however, the small number of strides may have influenced the results. The aim of this study was to investigate the immediate and long-term impact of continuous slow walking on the mean, variability and structure of stride-to-stride measures. Fourteen young adults walked at a constant pace on a treadmill at three speeds (preferred walking speed (PWS), 90% and 80% PWS) for 30 min each. Spatiotemporal gait parameters were computed over six successive 5-min intervals...
June 19, 2017: Human Movement Science
https://www.readbyqxmd.com/read/28640239/temple-syndrome-comprehensive-molecular-and-clinical-findings-in-32-japanese-patients
#6
Masayo Kagami, Keisuke Nagasaki, Rika Kosaki, Reiko Horikawa, Yasuhiro Naiki, Shinji Saitoh, Toshihiro Tajima, Tohru Yorifuji, Chikahiko Numakura, Seiji Mizuno, Akie Nakamura, Keiko Matsubara, Maki Fukami, Tsutomu Ogata
PurposeTemple syndrome (TS14) is a rare imprinting disorder caused by aberrations at the 14q32.2 imprinted region. Here, we report comprehensive molecular and clinical findings in 32 Japanese patients with TS14.MethodsWe performed molecular studies for TS14 in 356 patients with variable phenotypes, and clinical studies in all TS14 patients, including 13 previously reported.ResultsWe identified 19 new patients with TS14, and the total of 32 patients was made up of 23 patients with maternal uniparental disomy (UPD(14)mat), six patients with epimutations, and three patients with microdeletions...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28638668/severe-short-stature-in-an-adolescent-male-with-prader-willi-syndrome-and-congenital-adrenal-hyperplasia-a-therapeutic-conundrum
#7
Meredith Wasserman, Erin M Mulvihill, Angela Ganan-Soto, Serife Uysal, Jose Bernardo Quintos
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28634363/long-term-health-outcomes-in-patients-with-prader-willi-syndrome-a-nationwide-cohort-study-in-denmark
#8
E Hedgeman, S P Ulrichsen, S Carter, N C Kreher, K P Malobisky, M M Braun, J Fryzek, M S Olsen
BACKGROUND: Prader-Willi syndrome (PWS) is a rare congenital disease that affects growth, sexual development, cognitive function and behavior. Individuals exhibit food preoccupation and hyperphagia, which may lead to obesity with premature morbidity and mortality. The aim of this work was to evaluate the risk of venous thromboembolisms (VTE), myocardial infarction, pulmonary hypertension, sleep apnea, depression, anxiety and all-cause mortality among persons with PWS as compared to an age- and sex-matched general population cohort...
June 21, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28626083/cellular-and-disease-functions-of-the-prader-willi-syndrome-gene-magel2
#9
REVIEW
Klementina Fon Tacer, Patrick Ryan Potts
Melanoma antigen L2 (MAGEL2 or MAGE-L2) is a member of the MAGE family of ubiquitin ligase regulators. It is maternally imprinted and often paternally deleted or mutated in the related neurodevelopmental syndromes, Prader-Willi Syndrome (PWS) and Schaaf-Yang Syndrome (SHFYNG). MAGEL2 is highly expressed in the hypothalamus and plays an important role in a fundamental cellular process that recycles membrane proteins from endosomes through the retromer sorting pathway. MAGEL2 is part of a multi-subunit protein complex consisting of MAGEL2, the TRIM27 E3 ubiquitin ligase, and the USP7 deubiquitinating enzyme...
June 16, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28612246/evaluating-the-feasibility-of-a-play-based-telehealth-intervention-program-for-children-with-prader-willi-syndrome
#10
Anastasia Dimitropoulos, Olena Zyga, Sandra Russ
Here we report the feasibility and acceptability of telehealth for direct intervention in children with Prader-Willi syndrome (PWS). Children with PWS have social-cognitive challenges that are similar to children with ASD. However, developing behavioral interventions for individuals with PWS is faced with the significant challenge of enrolling enough participants for local studies where multiple visits per week are indicated for effective intervention. This study delivered a 6-week play-based intervention via telehealth directly to eight children with PWS (6-12 years)...
June 13, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28600576/circulating-angiopoietin-like-8-angptl8-is-a-marker-of-liver-steatosis-and-is-negatively-regulated-by-prader-willi-syndrome
#11
Chiara Mele, Graziano Grugni, Stefania Mai, Roberta Vietti, Gianluca Aimaretti, Massimo Scacchi, Paolo Marzullo
ANGPTL8 is a liver-derived protein related to insulin-sensitivity. Its relationship with obesity and liver function in Prader-Willi syndrome (PWS) is unknown. The present study investigated circulating ANGPTL8 in PWS and controls with common obesity, assessing its association to liver steatosis. For this purpose, 20 obese PWS and 20 controls matched for body mass index (BMI), sex and age underwent analysis of ANGPTL8 levels, glucose and lipid metabolism. Liver function tests and degree of liver steatosis by ultrasonography (US), fat-free mass (FFM) and fat mass (FM) by dual-energy x-ray absorptiometry (DEXA) were also assessed...
June 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28599054/coexistence-of-ephb1-and-ephrinb2-in-port-wine-stain-endothelial-progenitor-cells-contributes-to-clinicopathological-vasculature-dilatation
#12
W Tan, J Wang, F Zhou, L Gao, Y Rong, H Liu, A Sukanthanag, G Wang, M C Mihm, D-B Chen, J S Nelson
Port wine stain (PWS) is a vascular malformation characterized by a progressive dilatation of post-capillary venules, but the molecular pathogenesis remains obscure. We hypothesized that PWS endothelial cells (ECs) present a unique molecular phenotype that lead to pathoanatomic PWS vasculatures. We herein show multiple clinicopathologic features of PWS blood vessels during the development and progression of the disease. 1) There were no normal arterioles and venules phenotypically and morphologically observed in PWS skin; both arterioles and venules showed differentiation impairments, resulting in a reduction of arteriole-like vasculatures and defects in capillary loop formation in PWS lesions...
June 9, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28598555/experimental-and-numerical-investigation-on-the-transient-vascular-thermal-response-to-multi-pulse-nd-yag-laser
#13
Dong Li, Ruohui Li, Hao Jia, Bin Chen, Wenjuan Wu, Zhaoxia Ying
BACKGROUND AND OBJECTIVE: Port wine stains (PWS) are congenital vascular malformations that progressively darken and thicken with age. Laser therapy is currently the most effective way in clinical practice for PWS. A 1,064 nm Nd:YAG laser in the near-infrared band can achieve a deeper treatment depth compared to the current widely adopted pulsed dye laser. However, because of its relatively weak absorption by blood, single-pulse Nd:YAG laser requires high energy density to cause effective vessel damage, but may inflict undesirable burning to surrounding collagen...
June 9, 2017: Lasers in Surgery and Medicine
https://www.readbyqxmd.com/read/28595409/communication-a-novel-implementation-to-compute-mp2-correlation-energies-without-basis-set-superposition-errors-and-complete-basis-set-extrapolation
#14
Anant Dixit, Julien Claudot, Sébastien Lebègue, Dario Rocca
By using a formulation based on the dynamical polarizability, we propose a novel implementation of second-order Møller-Plesset perturbation (MP2) theory within a plane wave (PW) basis set. Because of the intrinsic properties of PWs, this method is not affected by basis set superposition errors. Additionally, results are converged without relying on complete basis set extrapolation techniques; this is achieved by using the eigenvectors of the static polarizability as an auxiliary basis set to compactly and accurately represent the response functions involved in the MP2 equations...
June 7, 2017: Journal of Chemical Physics
https://www.readbyqxmd.com/read/28592997/diagnoses-and-characteristics-of-autism-spectrum-disorders-in-children-with-prader-willi-syndrome
#15
Elisabeth M Dykens, Elizabeth Roof, Hailee Hunt-Hawkins, Nathan Dankner, Evon Batey Lee, Carolyn M Shivers, Christopher Daniell, Soo-Jeong Kim
BACKGROUND: A small percentage of people with autism spectrum disorders (ASD) have alterations in chromosome 15q11.2-q3, the critical region for Prader-Willi syndrome (PWS). Data are limited, however, on the rates and characteristics of ASD in PWS. Previous estimates of ASD in PWS (25 to 41%) are questionable as they are based solely on autism screeners given to parents. Inaccurate diagnoses of ASD in PWS can mislead intervention and future research. METHODS: One hundred forty-six children and youth with PWS aged 4 to 21 years (M = 11) were assessed with the Autism Diagnostic Observation Schedule-2 (ADOS-2)...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28588153/gastric-dilatation-and-abdominal-compartment-syndrome-in-a-child-with-prader-willi-syndrome
#16
Clara Blat, Elisenda Busquets, Teresa Gili, Assumpta Caixàs, Elisabeth Gabau, Raquel Corripio
BACKGROUND Prader-Willi syndrome (PWS) is a genetic disorder characterized by initial muscular hypotonia and feeding difficulties, and later an insatiable appetite, hyperphagia and obesity along with mild to moderate intellectual impairment. Affected individuals' food-seeking behavior and suspected delayed gastric emptying can lead to gastric dilatation with subsequent necrosis and perforation. CASE REPORT We present the case of a 5-year-old boy diagnosed with Prader-Willi syndrome at neonatal age due to muscular hypotonia, who started growth hormone therapy at 20 months...
June 7, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28584521/tranexamic-acid-encapsulating-thermosensitive-liposomes-for-site-specific-pharmaco-laser-therapy-of-port-wine-stains
#17
M Ingmar van Raath, Ruud Weijer, Gia Hung Nguyen, Bernard Choi, Anton I de Kroon, Michal Heger
Site-specific pharmaco-laser therapy (SSPLT) is a developmental stage treatment modality designed to non-invasively remove superficial vascular pathologies such as port wine stains (PWS) by combining conventional laser therapy with the prior administration of a prothrombotic and/or antifibrinolytic pharmaceutical-containing drug delivery system. For the antifibrinolytic SSPLT component, six different PEGylated thermosensitive liposomal formulations encapsulating tranexamic acid (TA), a potent antifibrinolytic lysine analogue, were characterized for drug:lipid ratio, encapsulation efficiency, size, endovesicular TA concentration (CTA), phase transition temperature (Tm), and assayed for heat-induced TA release...
August 2016: Journal of Biomedical Nanotechnology
https://www.readbyqxmd.com/read/28556449/effects-of-metap2-inhibition-on-hyperphagia-and-body-weight-in-prader-willi-syndrome-a-randomized-double-blind-placebo-controlled-trial
#18
Shawn E McCandless, Jack A Yanovski, Jennifer Miller, Cary Fu, Lynne M Bird, Parisa Salehi, Christine L Chan, Diane Stafford, M Jennifer Abuzzahab, David Viskochil, Sarah E Barlow, Moris Angulo, Susan E Myers, Barbara Y Whitman, Dennis Styne, Elizabeth Roof, Elisabeth M Dykens, Ann O Scheimann, Jaret Malloy, Dongliang Zhuang, Kristin Taylor, Thomas E Hughes, Dennis D Kim, Merlin G Butler
AIMS: There are no treatments for the extreme hyperphagia and obesity in Prader-Willi syndrome (PWS). The bestPWS trial assessed the efficacy, safety, and tolerability of the methionine aminopeptidase 2 (MetAP2) inhibitor, beloranib. MATERIALS AND METHODS: Participants with PWS (12-65 years) were randomly assigned (1:1:1) to biweekly placebo, 1.8 mg beloranib, or 2.4 mg beloranib injection for 26 weeks at 15 US sites. Coprimary endpoints were the changes in hyperphagia (measured by Hyperphagia Questionnaire for Clinical Trials [HQ-CT]; possible score 0-36) and weight by intention-to-treat...
May 29, 2017: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/28554868/a-novel-deletion-of-snurf-snrpn-exon-1-in-a-patient-with-prader-willi-like-phenotype
#19
Yang Cao, Susan S AlHumaidi, Eissa A Faqeih, Beth A Pitel, Patrick Lundquist, Umut Aypar
Here we report the smallest deletion involving SNURF/SNRPN that causes major symptoms of Prader-Willi syndrome (PWS), including hypotonia, dysmorphic features, intellectual disability, and obesity. A female patient with the aforementioned and additional features was referred to the Mayo Clinic Cytogenetics laboratory for genetic testing. Chromosomal microarray analysis and subsequent Sanger sequencing identified a de novo 6.4 kb deletion at 15q11.2, containing exon 1 of the SNURF gene and exon 1 of the shortest isoform of the SNRPN gene...
May 26, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28545008/psychiatric-disorders-in-a-cohort-of-individuals-with-prader-willi-syndrome
#20
L Shriki-Tal, H Avrahamy, Y Pollak, V Gross-Tsur, L Genstil, H J Hirsch, F Benarroch
BACKGROUND: Psychiatric manifestations in Prader-Willi Syndrome (PWS) are common and often are the most debilitating problem in these individuals. We present an epidemiological nation-wide survey of psychiatric diagnoses in the PWS population, based on full-range psychiatric interviews. METHODS: We studied the distribution of psychiatric diagnoses (as opposed to a symptom-based approach) in the Israel national cohort of adolescents and adults with PWS. There was a total of 53 (32 males) ages 12 years and older...
April 5, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
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