Full Text Journal Articles about
Williams Syndrome

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Indices of Resting Metabolic Rate Accurately Reflect Energy Deficiency in Exercising Women.

Nicole C A Strock, Kristen J Koltun, Emily A Southmayd, Nancy I Williams, Mary Jane De Souza,

Energy deficiency in exercising women can lead to physiological consequences. No gold standard exists to accurately estimate energy deficiency, but measured-to-predicted resting metabolic rate (RMR) ratio has been used to categorize women as energy deficient. The purpose of the study was to (a) evaluate the accuracy of RMR prediction methods, (b) determine ... Read more >>

Int J Sport Nutr Exerc Metab (International journal of sport nutrition and exercise metabolism)
[2020, :1-11]

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LIM kinases in synaptic plasticity and their potential as therapeutic targets.

Eva Halasz, Ellen Townes-Anderson, Weiwei Wang,

Neural Regen Res (Neural regeneration research)
[2020, 15(8):1471-1472]

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Development of Rapid Word-Object Associations in Relation to Expressive Vocabulary: Shared Commonalities in Infants and Toddlers with and without Williams Syndrome.

Oh-Ryeong Ha, Cara H Cashon, Nicholas A Holt, Carolyn B Mervis,

Associative word learning, i.e., associating a word with an object, is an important building block of early word learning for TD infants. The present study investigated the development of word-object associations by TD infants and infants and toddlers with Williams syndrome (WS), a rare genetic disorder associated with delayed language ... Read more >>

Dev Sci (Developmental science)
[2020, :e12966]

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Williams syndrome and autism: dissimilar socio-cognitive profiles with similar patterns of abnormal gene expression in the blood

Amy Niego, Ryo Kimura, Antonio Benítez-Burraco,

Abstract Autism Spectrum Disorders (ASD) and Williams Syndrome (WS) are complex cognitive conditions exhibiting quite opposite features in the social domain: whereas people with ASD are mostly hyposocial, subjects with WS are usually reported as hypersocial. At the same time, ASD and WS share some common underlying behavioral and cognitive ... Read more >>

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"I'll Change His Sexual Orientation, I Don't Think About HIV": A Qualitative Study to Explore Attitudes, Behaviors, and Experiences Among Wives of Men Who Have Sex With Men in Mainland China.

Fang Yan, Cynthia X Shi, Ye Zhang, Jia Chen, Ann Bartley Williams, Xianhong Li,

In mainland China, HIV prevalence among men who have sex with men (MSM) has risen sharply in the past decade. However, few HIV studies have directly addressed the female spouses' (tongqi) experiences, a population estimated at 14 million [Cheng, F. K. (2016). I want to come forward: Voices from Chinese ... Read more >>

J Assoc Nurses AIDS Care (The Journal of the Association of Nurses in AIDS Care : JANAC)
[2020, :]

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Growth assessment in children with Williams-Beuren syndrome: a systematic review.

Amanda de Sousa Lima Strafacci, Juliana Fernandes Camargo, Fábio Bertapelli, Gil Guerra Júnior,

Williams-Beuren syndrome (WBS) is a rare genetic disease caused by a sporadic heterozygous microdeletion in 7q11.23. It is characterized by distinctive facial appearance, cardiopathy, short stature, intellectual disability, and endocrine abnormalities. To evaluate the growth pattern of patients with WBS and to identify the prevalence of malnutrition, overweight, and obesity ... Read more >>

J. Appl. Genet. (Journal of applied genetics)
[2020, :]

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Hyperventilation Syndrome: Investigating the Relationship Between Nijmegen Questionnaire, Vestibular Function Tests, and Patient Symptoms.

Christopher Y K Williams, Robert W K Williams, Richard Knight, Syed Hashmi, Neil Donnelly, Manohar Bance,

OBJECTIVE:To explore the Nijmegen Questionnaire (NQ) and its relationship to vestibular function tests and symptoms in patients with dizziness; to compare patient characteristics between those with a positive Nijmegen score and patients clinically diagnosed with hyperventilation syndrome (HVS). STUDY DESIGN:Retrospective case series. SETTING:Tertiary neurotology referral center. PATIENTS:Patients seen at vestibular ... Read more >>

Otol. Neurotol. (Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology)
[2020, 41(3):e349-e356]

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Characterizing the neural signature of face processing in Williams syndrome via multivariate pattern analysis and event related potentials.

Emily K Farran, Inês Mares, Michael Papasavva, Fraser W Smith, Louise Ewing, Marie L Smith,

Face recognition ability is often reported to be a relative strength in Williams syndrome (WS). Yet methodological issues associated with the supporting research, and evidence that atypical face processing mechanisms may drive outcomes 'in the typical range', challenge these simplistic characterisations of this important social ability. Detailed investigations of face ... Read more >>

Neuropsychologia (Neuropsychologia)
[2020, :107440]

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Plasma nucleotide reverse transcriptase inhibitor concentration and their associations with liver and renal parameters in people living with HIV.

Xinzhu Wang, Marta Boffito, Laura Dickinson, Emmanouil Bagkeris, Saye Khoo, Frank A Post, Jaime Vera, Ian Williams, Amalia Ndoutoumou, Jane Anderson, Patrick Mallon, Myra McClure, Alan Winston, Caroline Sabin, ,

: Associations between markers of liver and renal dysfunction and nucleotide reverse transcriptase inhibitor plasma exposure are ill-defined. As part of a large cohort study (Pharmacokinetic and Clinical Observations in People over Fifty), we analysed associations between alanine aminotransferase and estimated glomerular filtration rate results in people living with HIV ... Read more >>

AIDS (AIDS (London, England))
[2020, 34(5):790-793]

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Everolimus Rescues the Phenotype of Elastin Insufficiency in Patient Induced Pluripotent Stem Cell-Derived Vascular Smooth Muscle Cells.

Caroline Kinnear, Rahul Agrawal, Caitlin Loo, Aric Pahnke, Deivid Carvalho Rodrigues, Tadeo Thompson, Oyediran Akinrinade, Samad Ahadian, Fred Keeley, Milica Radisic, Seema Mital, James Ellis,

Elastin gene deletion or mutation leads to arterial stenoses due to vascular smooth muscle cell (SMC) proliferation. Human induced pluripotent stem cells-derived SMCs can model the elastin insufficiency phenotype in vitro but show only partial rescue with rapamycin. Our objective was to identify drug candidates with superior efficacy in rescuing ... Read more >>

Arterioscler. Thromb. Vasc. Biol. (Arteriosclerosis, thrombosis, and vascular biology)
[2020, :ATVBAHA119313936]

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Angiotensin II Type 1 Receptor Autoantibodies in Primary Aldosteronism.

Lucie S Meyer, Siyuan Gong, Martin Reincke, Tracy Ann Williams,

Primary aldosteronism (PA) is the most common form of endocrine hypertension. Agonistic autoantibodies against the angiotensin II type 1 receptor (AT1R-Abs) have been described in transplantation medicine and women with pre-eclampsia and more recently in patients with PA. Any functional role of AT1R-Abs in either of the two main subtypes ... Read more >>

Horm. Metab. Res. (Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme)
[2020, :]

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Decreased density of cholinergic interneurons in striatal territories in Williams syndrome.

Kari L Hanson, Caroline H Lew, Branka Hrvoj-Mihic, Deion Cuevas, Demi M Z Greiner, Kimberly M Groeniger, Melissa K Edler, Eric Halgren, Ursula Bellugi, Mary Ann Raghanti, Katerina Semendeferi,

Williams syndrome (WS) is a rare neurodevelopmental disorder caused by the hemideletion of approximately 25-28 genes at 7q11.23. Its unusual social and cognitive phenotype is most strikingly characterized by the disinhibition of social behavior, in addition to reduced global IQ, with a relative sparing of language ability. Hypersociality and increased ... Read more >>

Brain Struct Funct (Brain structure & function)
[2020, :]

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Associations between Antiretrovirals and Cognitive Function in Women with HIV.

Leah H Rubin, Yuliang Li, Kathryn C Fitzgerald, Raha Dastgheyb, Amanda B Spence, Pauline M Maki, Anjali Sharma, Deborah R Gustafson, Joel Milam, Kathleen M Weber, Adaora A Adimora, Norman J Haughey, Igho Ofotokun, Margaret A Fischl, Deborah Konkle-Parker, Yanxun Xu, Dionna W Williams,

Cognitive complications persist in antiretroviral therapy(ART)-treated people with HIV. However, the pattern and severity of domain-specific cognitive performance is variable and may be exacerbated by ART-mediated neurotoxicity. 929 women with HIV(WWH) from the Women's Interagency HIV Study who were classified into subgroups based on sociodemographic and longitudinal behavioral and clinical ... Read more >>

J Neuroimmune Pharmacol (Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology)
[2020, :]

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MRI detection of occult venous anomalies in a patient with Williams syndrome: a case report.

Thomas S Davis, Monica S Epelman, Peace C Madueme, Karen S Bender, Gul H Dadlani,

Williams syndrome is a multisystem, congenital disorder which is commonly associated with arterial stenoses: supravalvar aortic stenosis and peripheral pulmonary artery stenosis. Venous abnormalities have not been previously reported in children with Williams syndrome. We present a case of a 3-year-old girl with Williams syndrome and diffuse venous ectasia as ... Read more >>

Cardiol Young (Cardiology in the young)
[2020, :1-3]

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ATM-Deficient Cancers Provide New Opportunities for Precision Oncology.

Nicholas R Jette, Mehul Kumar, Suraj Radhamani, Greydon Arthur, Siddhartha Goutam, Steven Yip, Michael Kolinsky, Gareth J Williams, Pinaki Bose, Susan P Lees-Miller,

Poly-ADP ribose polymerase (PARP) inhibitors are currently used in the treatment of several cancers carrying mutations in the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2, with many more potential applications under study and in clinical trials. Here, we discuss the potential for extending PARP inhibitor therapies to tumours ... Read more >>

Cancers (Basel) (Cancers)
[2020, 12(3):]

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Reporting results in U.S. clinical trials for obstructive sleep apnea and insomnia: How transparent are they?

Zhe He, Douglas M Wallace, Andrea Barnes, Xiang Tang, Girardin Jean-Louis, Natasha J Williams,

BACKGROUND:Clinical trial transparency is important for scientific research and for the good of the general public. Diversity of study samples by race/ethnicity, gender, and age is important to ensure that results are generalizable. Moreover, reporting results might also be necessary to engage racial/ethnic minorities in clinical research. The primary objective of ... Read more >>

Sleep Health (Sleep health)
[2020, :]

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Spinal cord stimulation improves functional outcomes in children with CRPS: Case presentation and review of the literature.

S M Bakr, J Knight, S K Johnson, A E Williams, J A Tolley, J S Raskin,

In the pediatric population, complex regional pain syndrome (CRPS) is a debilitating chronic pain syndrome that is classically treated with escalating polypharmacy and physical therapy; with failure of therapy oftentimes encountered in both adult and pediatric CRPS patients after which invasive neuromodulatory therapy might be considered1,2 . Intrathecal drug delivery ... Read more >>

Pain Pract (Pain practice : the official journal of World Institute of Pain)
[2020, :]

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Prevalence of Hypokalemia and Primary Aldosteronism in 5100 Patients Referred to a Tertiary Hypertension Unit.

Jacopo Burrello, Silvia Monticone, Isabel Losano, Giovanni Cavaglià, Fabrizio Buffolo, Martina Tetti, Michele Covella, Franco Rabbia, Franco Veglio, Barbara Pasini, Tracy Ann Williams, Paolo Mulatero,

Primary aldosteronism (PA) was considered a rare disorder almost always associated with hypokalemia. The widespread screening of patients with hypertension unveiled an increased prevalence of PA with normokalemic hypertension the prevailing phenotype. Many studies have reported the prevalence of hypokalemia in patients with PA; conversely, the prevalence of PA in ... Read more >>

Hypertension (Hypertension (Dallas, Tex. : 1979))
[2020, 75(4):1025-1033]

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The Profiles and Correlates of Psychopathology in Adolescents and Adults with Williams, Fragile X and Prader-Willi Syndromes.

R Royston, C Oliver, P Howlin, A Dosse, P Armitage, J Moss, J Waite,

Psychopathology is prevalent in Williams (WS), fragile X (FXS) and Prader-Willi (PWS) syndromes. However, little is known about the potential correlates of psychopathology in these groups. A questionnaire study was completed by 111 caregivers of individuals with WS (n = 35); FXS (n = 50) and PWS (n = 26). Mean age was 26 years (range 12-57 years); 74 (67%) were ... Read more >>

J Autism Dev Disord (Journal of autism and developmental disorders)
[2020, 50(3):893-903]

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Tuberculosis in HIV-Associated Cryptococcal Meningitis is Associated with an Increased Risk of Death.

Morris K Rutakingirwa, Fiona V Cresswell, Richard Kwizera, Kenneth Ssebambulidde, Enock Kagimu, Edwin Nuwagira, Lillian Tugume, Edward Mpoza, Joanna Dobbin, Darlisha A Williams, Conrad Muzoora, David B Meya, David R Boulware, Kathy H Hullsiek, Joshua Rhein,

Tuberculosis (TB) and cryptococcal meningitis are leading causes of morbidity and mortality in advanced HIV disease. Data are limited on TB co-infection among individuals with cryptococcal meningitis. We performed a retrospective analysis of HIV-infected participants with cryptococcal meningitis from 2010-2017. Baseline demographics were compared between three groups: 'prevalent TB' if ... Read more >>

J Clin Med (Journal of clinical medicine)
[2020, 9(3):]

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Heart transplantation in an infant with Williams-Beuren syndrome and rapidly progressive ischemic cardiomyopathy.

Nathanya Baez Hernandez, Richard Kirk, Ryan Davies, Jessica Roumillat, David Sutcliffe, Maria Bano, Ryan Butts,

Ischemic cardiomyopathy with resultant refractory HF may occur in patients with WBS, often as the result of coronary involvement with SVAS. The rapid development of arteriopathy at a young age raises concerns regarding transplant candidacy due to progressive stenoses at other arterial sites with potential detrimental impact on long-term heart ... Read more >>

Pediatr Transplant (Pediatric transplantation)
[2020, :e13688]

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The role of cofilin in age-related neuroinflammation.

Amsha S Alsegiani, Zahoor A Shah,

Aging brain becomes susceptible to neurodegenerative diseases due to the shifting of microglia and astrocyte phenotypes to an active "pro-inflammatory" state, causing chronic low-grade neuroinflammation. Despite the fact that the role of neuroinflammation during aging has been extensively studied in recent years, the underlying causes remain unclear. The identification of ... Read more >>

Neural Regen Res (Neural regeneration research)
[2020, 15(8):1451-1459]

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Attentional abilities constrain language development: A cross-syndrome infant/toddler study.

Dean D'Souza, Hana D'Souza, Emily J H Jones, Annette Karmiloff-Smith,

Typically developing (TD) infants adapt to the social world in part by shifting the focus of their processing resources to the relevant aspects of a visual scene. Any impairment in visual orienting may therefore constrain learning and development in domains such as language. However, although something is known about visual ... Read more >>

Dev Sci (Developmental science)
[2020, :e12961]

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Structural Determinants of Black MSM HIV Testing Coverage (2011-2016).

Barbara Tempalski, Stephanie Beane, Hannah L F Cooper, Samuel R Friedman, Sarah C McKetta, Umedjon Ibragimov, Leslie D Williams, Ronald Stall,

Over 30 years into the US HIV/AIDS epidemic, Black men who have sex with men (BMSM) continue to carry the highest burden of both HIV and AIDS cases. There is then, an urgent need to expand access to HIV prevention and treatment for all gay and bisexual men, underscoring the importance ... Read more >>

AIDS Behav (AIDS and behavior)
[2020, :]

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Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis.

Prajay Patel, Georgia Antoniou, Damian Clark, David Ketteridge, Nicole Williams,

Mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage diseases with multisystem manifestations, including carpal tunnel syndrome (CTS). This study comprised a systematic review of literature and hospital guidelines addressing the method and frequency of screening for carpal tunnel syndrome in mucopolysaccharidosis patients and a review of carpal tunnel syndrome ... Read more >>

J. Child Neurol. (Journal of child neurology)
[2020, :883073820904481]

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