1,895 results match your criteria pws patients

Generation of hypothalamic arcuate organoids from human induced pluripotent stem cells.

Cell Stem Cell 2021 Apr 28. Epub 2021 Apr 28.

Department of Neuroscience and Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Institute for Regenerative Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

Human brain organoids represent remarkable platforms for recapitulating features of human brain development and diseases. Existing organoid models do not resolve fine brain subregions, such as different nuclei in the hypothalamus. We report the generation of arcuate organoids (ARCOs) from human induced pluripotent stem cells (iPSCs) to model the development of the human hypothalamic arcuate nucleus. Read More

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Effects of the COVID-19 pandemic and lockdown on the mental and physical health of adults with Prader-Willi syndrome.

Orphanet J Rare Dis 2021 05 5;16(1):202. Epub 2021 May 5.

Assistance Publique-Hôpitaux de Paris, Centre de Référence Maladies Rares (PRADORT, Syndrome de Prader-Willi Et Autres Formes Rares D'Obésité Avec Troubles du Comportement Alimentaire), Service de Nutrition, Groupe Hospitalier Pitié-Salpêtrière, Hôpital Pitié-Salpêtrière, Sorbonne Université, 91 bd de l'Hôpital, Bâtiment E3M, 75013, Paris, France.

Background: Prader-Willi syndrome (PWS) is a neurodevelopmental disorder with hypothalamic dysfunction leading to obesity and behavioral disabilities, including eating disorders (EDs). We evaluated the effects of the COVID-19 infection and lockdown on mental and physical health in PWS. At the end of April, 85 adults with PWS completed a self-administered questionnaire, including lockdown conditions, physical activity (PA), ED, and medical and behavioral outcomes. Read More

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Multicenter clinical evaluation of a piezoresistive-MEMS-sensor rapid-exchange pressure microcatheter system for fractional flow reserve measurement.

Catheter Cardiovasc Interv 2021 May 5. Epub 2021 May 5.

Department of Cardiology, Zhongshan Hospital, Fudan University, Shanghai, China.

Objectives: This multicenter, prospective clinical study investigates whether the microelectromechanical-systems-(MEMS)-sensor pressure microcatheter (MEMS-PMC) is comparable to a conventional pressure wire in fractional flow reserve (FFR) measurement.

Background: As a conventional tool for FFR measurement, pressure wires (PWs) still have some limitations such as suboptimal handling characteristics and unable to maintain the wire position during pullback assessment. Recently, a MEMS-PMC compatible with any 0. Read More

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Hospital outcomes of scoliosis surgery in children with Prader-Willi Syndrome: comparison with adolescent idiopathic scoliosis.

Spine Deform 2021 May 5. Epub 2021 May 5.

Department of Orthopedics, Clinic B, Main Building, Phoenix Children's Hospital, 1919 E Thomas Road, Phoenix, AZ, 85016, USA.

Purpose: The purpose of this study was to evaluate the peri-operative outcomes of patients with Prader-Willi Syndrome (PWS) undergoing spinal deformity correction and compare the outcomes to patients with adolescent idiopathic scoliosis (AIS).

Methods: A retrospective review of the Kid's Inpatient Database was performed from 2000 to 2012 to identify all pediatric patients with scoliosis undergoing spinal fusion. Cohorts were created on the basis of PWS diagnosis and adolescent idiopathic scoliosis. Read More

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Effects of Growth Hormone treatment on sleep-related parameters in adults with Prader-Willi syndrome.

J Clin Endocrinol Metab 2021 May 5. Epub 2021 May 5.

Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.

Background: Prader-Willi Syndrome (PWS) is a rare, genetic, multi-symptom, neurodevelopmental disease, due to lack of the expression of the paternal genes in the q11-q13 region of chromosome 15. The main characteristics of PWS are muscular hypotonia, hyperphagia, obesity, behavioral problems, cognitive disabilities and endocrine deficiencies, including growth hormone (GH) deficiency. Sleep apnea and abnormal sleep patterns are common in PWS. Read More

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Self-stigma and Psychosocial Burden of Patients with Port-wine Stain (PWS): A Systematic Review and Meta-analysis.

J Cosmet Dermatol 2021 May 4. Epub 2021 May 4.

Faculty of Economics, Thammasat University, Bangkok, Thailand.

Background: Port-wine stain (PWS) is a congenital malformation that does not resolve spontaneously and can lead to social and self-stigma. However, little is known about how PWS affects the patients' quality of life (QoL) and psychosocial well-being. In this article, we examine the existing empirical evidence on self-stigma caused by PWS. Read More

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A Deep Learning Based Framework for Diagnosing Multiple Skin Diseases in a Clinical Environment.

Front Med (Lausanne) 2021 16;8:626369. Epub 2021 Apr 16.

Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Numerous studies have attempted to apply artificial intelligence (AI) in the dermatological field, mainly on the classification and segmentation of various dermatoses. However, researches under real clinical settings are scarce. This study was aimed to construct a novel framework based on deep learning trained by a dataset that represented the real clinical environment in a tertiary class hospital in China, for better adaptation of the AI application in clinical practice among Asian patients. Read More

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Correlation of Genotype and Perinatal Period, Time of Diagnosis and Anthropometric Data before Commencement of Recombinant Human Growth Hormone Treatment in Polish Patients with Prader-Willi Syndrome.

Diagnostics (Basel) 2021 Apr 28;11(5). Epub 2021 Apr 28.

Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.

Genotype-phenotype correlation in patients with Prader-Willi syndrome (PWS) has still not been fully described. We retrospectively analysed data of 147 patients and compared groups according to genetic diagnosis: paternal deletion of chromosome 15q11-q13 (DEL 15, = 81), maternal uniparental disomy (UPD 15, = 10), excluded DEL 15 (UPD 15 or imprinting centre defect, UPD/ID, = 30). Group DEL 15 had an earlier genetic diagnosis and recombinant human growth hormone (rhGH) start ( = 0. Read More

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Oxidative Stress and Inflammatory Markers in Abdominal Aortic Aneurysm.

Antioxidants (Basel) 2021 Apr 14;10(4). Epub 2021 Apr 14.

Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), ISCIII, 28029 Madrid, Spain.

Abdominal aortic aneurysm (AAA) is increasing due to aging of the population and is a major cause of death among the elderly. Ultrasound screening programs are useful in early diagnosis, but aneurysm size is not always a good predictor of rupture. Our aim was to analyze the value of circulating molecules related to oxidative stress and inflammation as new biomarkers to assist the management of AAA. Read More

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Appetite and weight inducing and inhibiting neuroendocrine factors in Prader-Willi syndrome, Bardet-Biedl syndrome and craniopharyngioma versus anorexia nervosa.

Endocr Connect 2021 Apr 1. Epub 2021 Apr 1.

A Hokken-Koelega, Erasmus MC Sophia Children Hospital, Rotterdam, Netherlands.

Obesity is reaching endemic state and has a major impact on health and economy. In most cases obesity is caused by life style factors. However, the risk of becoming obese differs highly between people. Read More

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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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Snord116 Post-transcriptionally Increases Nhlh2 mRNA Stability: Implications for Human Prader-Willi Syndrome.

Hum Mol Genet 2021 Apr 15. Epub 2021 Apr 15.

Translational Biology, Medicine and Health Graduate Program, 1 Riverside Circle, Virginia Tech, Roanoke, VA 24016.

The smallest genomic region causing Prader-Willi Syndrome (PWS) deletes the non-coding RNA SNORD116 cluster; however, the function of SNORD116 remains a mystery. Previous work in the field revealed the tantalizing possibility that expression of NHLH2, a gene previously implicated in both obesity and hypogonadism, was downregulated in PWS patients and differentiated stem cells. In silico RNA: RNA modeling identified several potential interaction domains between SNORD116 and NHLH2 mRNA. Read More

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Dietary intake and growth in children with Prader-Willi syndrome.

J Hum Nutr Diet 2021 Apr 9. Epub 2021 Apr 9.

Discipline of Paediatrics, Trinity College Dublin, The University of Dublin, Dublin, Ireland.

Background: The management of Prader-Willi Syndrome (PWS) requires strict dietary supervision to prevent obesity, avoid micronutrient deficiencies and ensure optimal growth. The present study aimed to examine the growth and dietary intake of children with PWS.

Methods: All children with genetically confirmed PWS attending Children's Health Ireland (CHI) at Tallaght (n = 44) were invited to participate. Read More

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High prevalence of lower urinary tract dysfunction in patients with Prader-Willi syndrome.

Neurourol Urodyn 2021 Apr 3. Epub 2021 Apr 3.

Department of Medicine, School of Medicine, Tzu Chi University, Huailien, Taiwan.

Aims: To report the first noninvasive urodynamic screening of lower urinary tract dysfunction (LUTD) in children, adolescents, and young adults with Prader-Willi Syndrome (PWS).

Methods: We recruited 37 PWS patients with/without lower urinary tract symptoms (LUTS) from our hospital. Uroflowmetry was performed in 36 patients. Read More

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Blue Laser (450 nm) in the Treatment of Port Wine Stains and Telangiectasia.

J Clin Med 2021 Mar 18;10(6). Epub 2021 Mar 18.

Department of Dermatology and Venerology, Medical University of Łódź, 90-643 Łódź, Poland.

This study aimed to test a blue light source for the treatment of port wine stains (PWS) and telangiectasia and to compare this with the application of green and yellow lasers based on data in the literature. A total of 22 patients with PWS were treated with radiation from a novel, high-power 450 nm blue laser that was created for this project. The group contained 15 patients with red PWS and 7 with pink PWS. Read More

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Applicability of Selective Electrical Surface Stimulation in Unilateral Vocal Fold Paralysis.

Laryngoscope 2021 Apr 2. Epub 2021 Apr 2.

Department of Otorhinolaryngology, Medical University of Vienna, Vienna, Austria.

Objective: Selective electrical surface stimulation (SES) of the larynx is not yet routinely considered therapy option in treatment of unilateral vocal fold paralysis (UVFP). Goal of this monocentric feasibility study was to provide systematic data on applicability of SES of intrinsic laryngeal muscles in UVFP under consideration of sensitivity and discomfort thresholds and nonselective side effects.

Methods: Thirty-two UVFP patients were included in the study. Read More

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Does Double-Pass Pulsed-Dye Laser With Long and Short Pulse Duration Increase Treatment Efficacy of Port-Wine Stain? A Randomized Clinical Trial.

Dermatol Surg 2021 Apr;47(4):e122-e126

All authors are affiliated with the Department of Dermatology, Razi Hospital, Tehran University of Medical Science, Tehran, Iran.

Background: Although pulsed-dye laser (PDL) 595 nm is known as the gold standard for treatment of port-wine stains (PWS), complete clearance of lesions occurs in a minority of cases.

Objective: To compare the efficacy and safety of double-pass pulsed-dye laser (DPL), long pulse duration (20 m/s) followed by short pulse duration (1.5 m/s) within 20 minutes interval, with single-pass pulsed-dye laser (SPL) for (1. Read More

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Bone mineral density during 3 years of growth hormone in previously GH-treated young adults with PWS.

Eur J Endocrinol 2021 May 4;184(6):773-782. Epub 2021 May 4.

Dutch Growth Research Foundation, Rotterdam, the Netherlands.

Objective: In children with Prader-Willi syndrome (PWS), growth hormone (GH) treatment has positive effects on bone mineral density (BMD). Two 1-year studies did not show a difference between GH or placebo on BMD in young adults with PWS. However, there are no studies investigating BMD during longer-term GH treatment in young adults with PWS. Read More

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Plasma Levels of Neuron- and Astrocyte-Derived Exosomal Amyloid Beta1-42, Amyloid Beta1-40, and Phosphorylated Tau Levels in Schizophrenia Patients and Non-psychiatric Comparison Subjects: Relationships With Cognitive Functioning and Psychopathology.

Front Psychiatry 2020 2;11:532624. Epub 2021 Mar 2.

Department of Psychiatry and Neurosciences, University of California San Diego, San Diego, CA, United States.

Cognitive deficits in people with schizophrenia (PWS) are a major predictor of disability and functioning, yet the underlying pathophysiology remains unclear. A possible role of amyloid and tau biomarkers (hallmarks of Alzheimer's disease) is still speculative in schizophrenia. Exosomes or extracellular vesicles, involved with cell-to-cell communication and waste removal, can be used to assay brain-based proteins from peripheral blood. Read More

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Multi-patient study for coronary vulnerable plaque model comparisons: 2D/3D and fluid-structure interaction simulations.

Biomech Model Mechanobiol 2021 Mar 23. Epub 2021 Mar 23.

Department of Medicine, Emory University School of Medicine, Atlanta, GA, 30307, USA.

Several image-based computational models have been used to perform mechanical analysis for atherosclerotic plaque progression and vulnerability investigations. However, differences of computational predictions from those models have not been quantified at multi-patient level. In vivo intravascular ultrasound (IVUS) coronary plaque data were acquired from seven patients. Read More

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The effect of rapid maxillary expansion on the upper airway's aerodynamic characteristics.

BMC Oral Health 2021 03 17;21(1):123. Epub 2021 Mar 17.

Department of Clinical Dentistry, Faculty of Medicine, University of Bergen, Årstadveien 19, 5009, Bergen, Norway.

Background: The effect of rapid maxillary expansion (RME) on the upper airway (UA) has been studied earlier but without a consistent conclusion. This study aims to evaluate the outcome of RME on the UA function in terms of aerodynamic characteristics by applying a computational fluid dynamics (CFD) simulation.

Methods: This retrospective cohort study consists of seventeen cases with two consecutive CBCT scans obtained before (T0) and after (T1) RME. Read More

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Monitoring perfusion and oxygen saturation in port-wine stains during vascular targeted photodynamic therapy.

Ann Transl Med 2021 Feb;9(3):214

Department of Laser Medicine, First Medical Center of Chinese PLA General Hospital, Beijing, China.

Background: Vascular targeted photodynamic therapy (V-PDT) is a safe and effective therapeutic modality for port-wine stains (PWS) by targetedly damaging the dilated and malformed blood vessels. This study aims to monitor and quantify the changes in oxygen saturation (StO), blood volume fraction (BVF) and perfusion in PWS lesions before and during V-PDT.

Methods: Microvascular parameters (i. Read More

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February 2021

The Effects of Probiotic Supplementation on Anthropometric Growth and Gut Microbiota Composition in Patients With Prader-Willi Syndrome: A Randomized Double-Blinded Placebo-Controlled Trial.

Front Nutr 2021 19;8:587974. Epub 2021 Feb 19.

Second Affiliated Hospital of Kunming Medical University, Kunming, China.

Prader-Willi Syndrome (PWS) is a rare genetic disorder associated with developmental delay, obesity, and neuropsychiatric comorbidities. subsp. has demonstrated anti-obesity and anti-inflammatory effects in previous studies. Read More

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February 2021

Case Report: Clinical Analysis of Seven Neonates With Prader-Willi Syndrome and Review of the Literature.

Front Pediatr 2021 18;9:633532. Epub 2021 Feb 18.

Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.

The clinical symptoms of neonatal Prader-Willi syndrome (PWS) are not typical and are easy to miss. The aim of the study was to investigate the clinical features and genetic characteristics of seven cases of neonatal PWS from northern China, and to improve the understanding of PWS in neonates. We retrospectively analyzed seven infants diagnosed by methylation specific multiplex ligation probe amplification technology (MS-MLPA) in the Neonatology Unit of Shengjing Hospital of China Medical University from September 2016 to July 2020. Read More

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February 2021

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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Hypogonadism in Patients with Prader Willi Syndrome: A Narrative Review.

Int J Mol Sci 2021 Feb 17;22(4). Epub 2021 Feb 17.

Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples "Federico II", 80131 Naples, Italy.

Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder related to the lack of a functional paternal copy of chromosome 15q11-q13. Several clinical manifestations are reported, such as short stature, cognitive and behavioral disability, temperature instability, hypotonia, hypersomnia, hyperphagia, and multiple endocrine abnormalities, including growth hormone deficiency and hypogonadism. The hypogonadism in PWS is due to central and peripheral mechanisms involving the hypothalamus-pituitary-gonadal axis. Read More

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February 2021

Effects of Transcranial Direct Current Stimulation (tDCS) on Go/NoGo Performance Using Food and Non-Food Stimuli in Patients with Prader-Willi Syndrome.

Brain Sci 2021 Feb 17;11(2). Epub 2021 Feb 17.

Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS 66160, USA.

Prader-Willi syndrome (PWS) is a neurodevelopmental genetic disorder characterized by multiple system involvement with hypotonia, poor suck with feeding difficulties, growth and other hormone deficiencies, intellectual disability, and behavioral problems with childhood onset of hyperphagia resulting in obesity, if not externally controlled. Transcranial direct current stimulation (tDCS) has been increasingly shown to modulate cognitive and behavioral processes in children and adults, including food-intake behaviors in patients with PWS. This study further reports the positive effects of brief tDCS sessions on Go/NoGo task performance involving food and non-food stimuli images, alterations in N2 brain amplitude, and genetic subgroup differences (maternal disomy 15, UPD; 15q11-q13 deletion, DEL) before and after tDCS as assessed by event-related potentials (ERPs) in 10 adults with PWS. Read More

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February 2021

Comparison of Frequency and Severity of Sleep-Related Breathing Disorders in Children with Simple Obesity and Paediatric Patients with Prader-Willi Syndrome.

J Pers Med 2021 Feb 18;11(2). Epub 2021 Feb 18.

Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

Sleep-related breathing disorders (SRBDs) can be present in children with simple obesity and with Prader-Willi syndrome (PWS) and influence an individual diagnostic and treatment approach. We compared frequency and severity of SRBDs in children with simple obesity and with PWS, both without and on recombinant human growth hormone (rhGH) treatment, and correlation of SRBDs with insulin resistance tests. A screening polysomnography-polygraphy (PSG), the oral glucose tolerance test (OGTT) and homeostasis model assessment of insulin resistance (HOMA-IR) were analysed in three groups of patients-with simple obesity (group 1, = 30, mean age 14. Read More

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February 2021

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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