1,805 results match your criteria adult pws

Comparison of Laboratory and Radiological Findings of Pregnant and Non-Pregnant Women with Covid-19.

Rev Bras Ginecol Obstet 2021 Mar 15;43(3):200-206. Epub 2021 Apr 15.

Department of Thoracic Surgery, Kartal Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.

Objective:  Covid-19 became a pandemic, and researchers have not been able to establish a treatment algorithm. The pregnant population is also another concern for health care professionals. There are physiological changes related to pregnancy that result in different laboratory levels, radiological findings and disease progression. Read More

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Prader-Willi Syndrome and Hypogonadism: A Review Article.

Int J Mol Sci 2021 Mar 8;22(5). Epub 2021 Mar 8.

Centre for Paediatric Endocrinology Zurich (PEZZ), 8006 Zurich, Switzerland.

Prader-Labhart-Willi syndrome (PWS) is a rare genetic disorder characterized by intellectual disability, behavioural problems, hypothalamic dysfunction and specific dysmorphisms. Hypothalamic dysfunction causes dysregulation of energy balance and endocrine deficiencies, including hypogonadism. Although hypogonadism is prevalent in males and females with PWS, knowledge about this condition is limited. Read More

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A qualitative study on experiences of persons with schizophrenia in oral-health-related quality of life.

Braz Oral Res 2021 22;35:e050. Epub 2021 Mar 22.

University Hospital of Besançon, Besançon, France.

Our study aimed to explore the views and experiences in oral health and oral-health-related quality of life (OHRQoL) of persons with schizophrenia (PWS) in order to expand the understanding of the factors that either limit or facilitate their healthcare pathway, which can ultimately optimize their oral health and/or OHRQoL. A qualitative study was conducted in France in the Côte d'Or department (530 000 in habitants) centered on PWS's perceived meanings regarding oral health or OHRQoL, and semi-structured individual interviews were used. A conventional content analysis approach was chosen in order to highlight unrevealed themes. Read More

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Circulating Inhibitory Factor 1 levels in adult patients with Prader-Willi syndrome.

Horm Mol Biol Clin Investig 2021 Mar 5. Epub 2021 Mar 5.

Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari "Aldo Moro", Bari, Italy.

Objectives: Prader-Willi syndrome (PWS) is a rare genetic syndrome characterized by hyperphagia and early development of morbid obesity. Cardiovascular disease (CVD) and metabolic syndrome (MetS) are major comorbidities in these patients leading to premature death. Inhibitory factor 1 (IF) works as a regulatory protein, inhibiting the ATP hydrolase activity of mitochondrial ATP synthase and likely playing a role in lipid metabolism. Read More

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Altered Gesture Imitation and Brain Anatomy in Adult Prader-Willi Syndrome Patients.

J Int Neuropsychol Soc 2021 Mar 4:1-13. Epub 2021 Mar 4.

Specialized Service in Mental Health and Intellectual Disability Department, Institut Assistència Sanitària (IAS), Parc Hospitalari Martí i Julià, Girona, Spain.

Objective: To explore motor praxis in adults with Prader-Willi syndrome (PWS) in comparison with a control group of people with intellectual disability (ID) and to examine the relationship with brain structural measurements.

Method: Thirty adult participants with PWS and 132 with ID of nongenetic etiology (matched by age, sex, and ID level) were assessed using a comprehensive evaluation of the praxis function, which included pantomime of tool use, imitation of meaningful and meaningless gestures, motor sequencing, and constructional praxis.

Results: Results support specific praxis difficulties in PWS, with worse performance in the imitation of motor actions and better performance in constructional praxis than ID peers. Read More

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The genetic background and vitamin D supplementation can affect irisin levels in Prader-Willi syndrome.

J Endocrinol Invest 2021 Mar 3. Epub 2021 Mar 3.

Department of Emergency and Organ Transplantation, University of Bari 'A. Moro', Piazza Giulio Cesare, 11, 70124, Bari, Italy.

Background: Prader-Willi syndrome (PWS) is associated to distinctive clinical symptoms, including obesity, cognitive and behavioral disorders, and bone impairment. Irisin is a myokine that acts on several target organs including brain adipose tissue and bone. The present study was finalized to explore circulating levels of irisin in children and adult PWS patients. Read More

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Adults with Prader-Willi syndrome exhibit a unique microbiota profile.

BMC Res Notes 2021 Feb 6;14(1):51. Epub 2021 Feb 6.

Rosell Institute for Microbiome and Probiotics, 6100 Royalmount, Montreal, QC, H4P 2R2, Canada.

Objective: Adults with Prader-Willi syndrome (PWS) require less energy intake to maintain body weight than the general adult population. This, combined with their altered gastrointestinal transit time, may impact microbiota composition. The aim of the study was to determine if the fecal microbiota composition of adults with PWS differed from non-affected adults. Read More

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February 2021

Investigating life-history traits of Steller sea lions with multistate hidden Markov mark-recapture models: Age at weaning and body size effects.

Ecol Evol 2021 Jan 30;11(2):714-734. Epub 2020 Dec 30.

NOAA Fisheries Alaska Fisheries Science Center Seattle Washington USA.

The duration of offspring care is critical to female fitness and population resilience by allowing flexibility in life-history strategies in a variable environment. Yet, for many mammals capable of extended periods of maternal care, estimates of the duration of offspring dependency are not available and the relative importance of flexibility of this trait on fitness and population viability has rarely been examined. We used data from 4,447 Steller sea lions from the Gulf of Alaska and multistate hidden Markov mark-recapture models to estimate age-specific weaning probabilities. Read More

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January 2021

Non-pharmacological interventions for smoking in persons with schizophrenia spectrum disorders - A systematic review.

Asian J Psychiatr 2021 Feb 14;56:102530. Epub 2021 Jan 14.

Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, 560029, India. Electronic address:

Introduction: The rates and intensity of tobacco use are higher in persons with schizophrenia spectrum disorders (PwS) compared to the general population, contributing to increased morbidity and mortality. We aimed to systematically review randomised control trials (RCTs) that used non-pharmacological interventions to reduce or cease tobacco use in PwS.

Methods: We searched PubMed, EBSCO, ProQuest and PsycINFO for RCTs, published between January 2004 and December 2019, which included adult PwS. Read More

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February 2021

Outcomes in children treated with growth hormone for Prader-Willi syndrome: data from the ANSWER Program® and NordiNet® International Outcome Study.

Int J Pediatr Endocrinol 2020 Nov 10;2020(1):20. Epub 2020 Nov 10.

Center for Physiopathology of Toulouse-Purpan, and the Reference Centre for PWS, Department of Endocrinology, Children's Hospital, CHU Toulouse, Toulouse, France.

Background: Growth hormone (GH) deficiency is common in patients with Prader-Willi syndrome (PWS) and leads to short adult stature. The current study assessed clinical outcomes based on real-world observational data in pediatric patients with PWS who were treated with GH.

Methods: Data from patients previously naïve to treatment with GH who began therapy with somatropin were collected from 2006 to 2016 in the observational American Norditropin® Studies: Web-Enabled Research (ANSWER) Program® and NordiNet® International Outcome Study. Read More

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November 2020

Changes of Body Weight and Body Composition in Obese Patients with Prader-Willi Syndrome at 3 and 6 Years of Follow-Up: A Retrospective Cohort Study.

J Clin Med 2020 Nov 8;9(11). Epub 2020 Nov 8.

Division of Auxology, Istituto Auxologico Italiano, IRCCS, 28824 Verbania, Italy.

Few short-term studies of weight loss have been performed in adult patients with Prader-Willi syndrome (PWS) undergoing metabolic rehabilitation. We performed a retrospective cohort study of 45 adult obese PWS patients undergoing a long-term multidisciplinary metabolic rehabilitation program based on diet and physical activity. Body composition was evaluated by dual-energy X-ray absorptiometry in 36 (80%) patients. Read More

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November 2020

Stimulated GH levels during the transition phase in Prader-Willi syndrome.

J Endocrinol Invest 2020 Oct 23. Epub 2020 Oct 23.

Reference Center for Prader-Willi Syndrome, Bambino Gesù Children's Hospital, Research Institute, Palidoro, Rome, Italy.

Purpose: Early institution of GH therapy in children with Prader-Willi syndrome (PWS) yields beneficial effects on their phenotype and is associated with a persistent improvement of body composition, both in the transition age and in adulthood. Reports from GH stimulation testing in PWS adults, however, suggest that GH deficiency (GHD) is not a universal feature of the syndrome, and the current Consensus Guidelines suggest to perform a reassessment of persistent GHD so as to continue GH therapy after reaching adult height. Few data about GH responsiveness to stimulation testing throughout the transitional period in PWS are available to date. Read More

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October 2020

The adult phenotype of Schaaf-Yang syndrome.

Orphanet J Rare Dis 2020 10 19;15(1):294. Epub 2020 Oct 19.

Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.

Background: MAGEL2-associated Schaaf-Yang syndrome (SHFYNG, OMIM #615547, ORPHA: 398069), which was identified in 2013, is a rare disorder caused by truncating variants of the paternal copy of MAGEL2, which is localized in the imprinted region on 15q11.2q13. The phenotype of SHFYNG in childhood partially overlaps with that of the well-established Prader-Willi syndrome (PWS, OMIM #176270). Read More

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October 2020

Plantar Flexor Function in Adults with and without Prader-Willi Syndrome.

Med Sci Sports Exerc 2020 10;52(10):2189-2197

Department of Kinesiology, California State University, Fullerton, CA.

Purpose: Prader-Willi Syndrome (PWS) is a form of congenital obesity characterized by excessive body fat, hypotonia, muscle weakness, and physical/cognitive disability. However, the sources of muscle dysfunction and their contribution to mobility are unclear. The purposes of this study were to 1) compare plantar flexor function between adults with and without PWS; and 2) to examine the relationship between plantar flexor function and gait speed in adults with PWS. Read More

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October 2020

Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment.

J Clin Endocrinol Metab 2020 12;105(12)

Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, GD Rotterdam, Netherlands.

Context: Prader-Willi syndrome (PWS) is a complex hypothalamic disorder, combining hyperphagia, hypotonia, intellectual disability, and pituitary hormone deficiencies. Annual mortality of patients with PWS is high (3%). In half of the patients, the cause of death is obesity related and/or of cardiopulmonary origin. Read More

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December 2020

Fat-Free Mass Is Better Related to Serum Uric Acid Than Metabolic Homeostasis in Prader-Willi Syndrome.

Nutrients 2020 08 25;12(9). Epub 2020 Aug 25.

Division of Auxology, IRCCS Istituto Auxologico Italiano, 28824 Piancavallo (VB), Italy.

: Prader-Willi syndrome (PWS) is conventionally regarded as a model of genetic obesity carrying a metabolically healthier profile and fat compartmentalization than subjects with non-syndromic obesity. Serum uric acid (sUA) is a recognized surrogate marker of metabolic derangement. As no information is currently available on sUA levels in adults with PWS, we aimed to analyze sUA in a large cohort of adult patients with PWS in comparison to a control counterpart; secondly, we aimed to investigate the metabolic and non-metabolic determinants of sUA in PWS. Read More

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Photodynamic Therapy Using HMME for Port-Wine Stains: Clinical Effectiveness and Sonographic Appearance.

Biomed Res Int 2020 30;2020:6030581. Epub 2020 Jul 30.

Department of Dermatology, Southern University of Science and Technology Hospital, Shenzhen, China 518055.

This study aims at exploring the clinical efficacy and sonographic changes of photodynamic therapy (PDT) using Hematoporphyrin Monomethyl Ether (HMME) for the treatment of port-wine stains (PWS). Forty-five patients with PWS were recruited between March 2017 and June 2018 from the Department of Dermatology of The Third Affiliated Hospital of Soochow University. Five cases were of the pink type, thirty-nine cases were of the purple-red type, and one case was of the thickened type. Read More

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Facial Port-Wine Stain Phenotypes Associated with Glaucoma Risk in Neonates.

Am J Ophthalmol 2020 12 12;220:183-190. Epub 2020 Aug 12.

Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea; Childhood Glaucoma Research Group, Seoul National University (SNU), Seoul, Korea; Department of Ophthalmology, Seoul National University Hospital, Seoul, Korea; Department of Pediatric Ophthalmology, Seoul National University Children's Hospital, Seoul, Korea. Electronic address:

Purpose: To determine if the size and location of facial port-wine stains (PWS) can predict glaucoma risk in neonates.

Design: Retrospective cohort study.

Methods: Children with facial PWS who had undergone ophthalmologic examination within 4 weeks of their birth were included. Read More

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December 2020

Coarticulatory Aspects of the Fluent Speech of French and Italian People Who Stutter Under Altered Auditory Feedback.

Front Psychol 2020 23;11:1745. Epub 2020 Jul 23.

Institute of Cognitive Sciences and Technologies, National Research Council, Padua, Italy.

A number of studies have shown that phonetic peculiarities, especially at the coarticulation level, exist in the disfluent as well as in the perceptively fluent speech of people who stutter (PWS). However, results from fluent speech are very disparate and not easily interpretable. Are the coarticulatory features observed in fluent speech of PWS a manifestation of the disorder, or rather a compensation for the disorder itself? The purpose of the present study is to investigate the coarticulatory behavior in the fluent speech of PWS in the attempt to answer the question on its symptomatic or adaptive nature. Read More

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Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents' experiences through a multicentre narrative medicine research.

BMJ Open 2020 08 6;10(8):e036502. Epub 2020 Aug 6.

Healthcare Area, Fondazione ISTUD, Baveno, Verbano-Cusio-Ossola, Italy.

Objectives: Prader-Willi syndrome (PWS) significantly impacts health-related quality of life; however, its relational and existential aspects remain unknown in Italian clinical and social debate. The project aimed to investigate the impact of PWS on illness experience through narrative medicine (NM) to understand the daily life, needs and resources of patients with PWS and their caregivers, and to furnish insights for clinical practice.

Design And Setting: The project involved 10 medical centres of the Italian Network for Rare Diseases and PWS family associations and targeted underage and adult patients with PWS and their caregivers. Read More

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Trait perspective-taking and need for cognition in the formation of stereotypes about people who stutter.

J Fluency Disord 2020 09 26;65:105778. Epub 2020 Jun 26.

Department of Communication Studies, The University of Texas at Austin, USA.

People who stutter (PWS) suffer from stereotypes portraying them as timid and anxious, which may affect their relationships and careers. One of the mechanisms for this stereotyping is the anchoring and adjustment heuristic, whereby individuals make judgements about PWS by using previous experiences for the initial judgement and then adjust accordingly. In the current study (n = 309) we replicate previous findings that individuals stereotype PWS by anchoring to experiences with episodic stuttering and adjusting toward typical non-stuttering individuals, although insufficiently. Read More

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September 2020

[Clinical and Neuroimaging Analysis of 24 Cases of Sturge-Weber Syndrome].

Sichuan Da Xue Xue Bao Yi Xue Ban 2020 Jul;51(4):562-566

Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu 610041, China .

Objective: To analyze the clinical manifestations and neuroimaging characteristics of Sturge-Weber syndrome (SWS), to describe the manifestations of facial port-wine stains (PWS) of SWS, and to explore the screening opinions for SWS.

Methods: A retrospective analysis was performed on the general condition, clinical manifestations, and neuroimaging results of 24 SWS patients from the dermatology department of West China Hospital of Sichuan University between 2017 and 2019. Three different facial PWS distribution methods (traditional anatomical distribution, facial trigeminal nerve distribution, and facial embryological vasculature distribution) in SWS patients were Analysed. Read More

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Phase Angle: Could Be an Easy Tool to Detect Low-Grade Systemic Inflammation in Adults Affected by Prader-Willi Syndrome?

Nutrients 2020 Jul 11;12(7). Epub 2020 Jul 11.

Dipartimento di Medicina Clinica e Chirurgia, Unit of Endocrinology, Federico II University Medical School of Naples, Via Sergio Pansini 5, 80131 Naples, Italy.

Prader-Willi syndrome (PWS) is the most common genetic inherited obesity syndrome. Obesity-related complications, mostly related to chronic low-grade systemic inflammation (LGI), are the commonest cause of mortality and morbidity in PWS adults. Phase angle (PhA) is an easy tool to screen a state of LGI in healthy subjects and in subjects with obesity and is obtained from bioelectrical impedance analysis (BIA). Read More

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Changes in symmetry during gait in adults with Prader-Willi syndrome.

Comput Methods Biomech Biomed Engin 2020 Nov 3;23(14):1094-1101. Epub 2020 Jul 3.

Department of Electronics, Information and Bioengineering, Politecnico di Milano, Milano, Italy.

Most studies on locomotion of individuals with the Prader-Willi Syndrome (PWS) have been performed in a laboratory setting using quantitative motion analysis. Recently, wireless inertial sensors have been successfully employed for gait analysis in different pathological states with the advantages of reproducing a testing condition very close to those encountered in daily living. Using such devices, it is possible not only to characterize the conventional spatio-temporal parameters, but also extract information on further less conventional metrics, such as the harmonic ratio (HR), a measure of step-to-step symmetry based on trunk acceleration processing. Read More

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November 2020

Capillaroscopy and reflectance confocal microscopy characterization of refractory port-wine stains.

Lasers Med Sci 2021 Mar 25;36(2):407-412. Epub 2020 Jun 25.

Istituto di Chirurgia e Laserchirurgia in Dermatologia (I.C.L.I.D.), Via della Moscova 42, 20121, Milano, Italy.

Port-wine stains (PWS) are frequently refractory to laser treatments. Although previous data highlight prognostic factors and biological events related to poor outcomes, no previous publications correlate their capillaroscopic and architectural features. The aim of the present study is to describe refractory port-wine stains performing capillaroscopy and reflectance confocal microscopy (RCM) to describe their morphological and microscopic aspects. Read More

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Three years of growth hormone treatment in young adults with Prader-Willi syndrome: sustained positive effects on body composition.

Orphanet J Rare Dis 2020 06 24;15(1):163. Epub 2020 Jun 24.

Dutch Growth Research Foundation, Rotterdam, The Netherlands.

Background: In children with Prader-Willi syndrome (PWS), the benefits of growth hormone treatment are well established. Several one-year studies have shown that growth hormone is also beneficial for adults with PWS, improving body composition. However, little is known about the longer-term effects. Read More

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Characteristics of proactive balance and gait performance in subacute stroke patients demonstrating varying reactive balance capacity: A research study.

NeuroRehabilitation 2020 ;46(4):491-500

Department of Physical Therapy, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.

Background: Persons with stroke (PwS) demonstrate impaired reactive balance control placing them at increased risk of falls. Yet, tests used in clinical practice to assess this risk usually rely on proactive balance control.

Objective: To investigate differences in proactive balance in PwS with varying reactive balance capacity. Read More

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November 2020

Skin Picking in People with Prader-Willi Syndrome: Phenomenology and Management.

J Autism Dev Disord 2021 Jan;51(1):286-297

Centre for Applied Psychology, School of Psychology & Institute for Mental Health, University of Birmingham, 52 Pritchatts Road, Edgbaston, Birmingham, B15 2SA, UK.

Skin picking is highly prevalent in people with Prader-Willi syndrome (PWS). This study addressed the temporal (frequency, duration) and wider characteristics (e.g. Read More

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January 2021

Accuracy of Different Indexes of Body Composition and Adiposity in Identifying Metabolic Syndrome in Adult Subjects with Prader-Willi Syndrome.

J Clin Med 2020 May 30;9(6). Epub 2020 May 30.

Istituto Auxologico Italiano, IRCCS, Experimental Laboratory for Auxo-endocrinological Research & Division of Auxology, 28824 Piancavallo (VB), Italy.

(1) Objective: To compare the accuracy of different indexes of adiposity and/or body composition in identifying metabolic syndrome (MetS) in adult patients suffering from Prader‒Willi syndrome (PWS). (2) Study Design: One hundred and twenty PWS patients (69 females and 51 males), aged 29.1 ± 9. Read More

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Embolization Techniques for Arteriovenous Malformations in Parkes-Weber Syndrome.

Ann Vasc Surg 2020 Nov 29;69:224-231. Epub 2020 May 29.

The AVM Center of New York at Lenox Hill, Northwell Health System, New York, NY.

Background: Multiple high-flow arteriovenous malformations (AVMs) are the hallmark of Parkes-Weber syndrome (PWS). Surgical resection has historically shown poor outcomes with PWS. The aim of this study was to assess the management of PWS in the current era. Read More

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November 2020