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A recent study conducted by Baylor College of Medicine focused on the prevalence of sleep disorders in individuals with Prader-Willi syndrome (PWS). The research highlighted the importance of screening for treatable sleep disorders in PWS patients, as caregivers reported high rates of sleep-disordered breathing, cataplexy-like symptoms, and insomnia. The study emphasized the need for healthcare providers to listen to patients and caregivers to better understand the impact of sleep disorders on individuals with PWS. [Extracted from the article]

Researchers at the University of Connecticut have developed isogenic human embryonic stem cell lines to model Angelman Syndrome and Prader-Willi Syndrome, two neurodevelopmental disorders caused by genetic mutations. These cell lines allow for the study of allele-specific gene regulation at the chromosome 15q11-q13 locus, aiding in the development of targeted therapeutic approaches for patients with these syndromes. The study was supported by the NIH and provides valuable insights into the genetic basis of these debilitating conditions. [Extracted from the article]

A recent study conducted at the Pediatric Hospital Bambino Gesu Research Institute in Rome, Italy, focused on long-term ventilation in pediatric central apnea patients over a decade. The research analyzed clinical characteristics, ventilatory strategies, and effectiveness of ventilation in children with central apneas. The study found that tailored ventilatory strategies based on specific diagnoses and severity of central apneas led to significant improvements in patients, with pressure-supported ventilation being the most common mode used. The research concluded that continuous positive airway pressure (CPAP) was exclusively used in patients with predominantly obstructive sleep apneas. [Extracted from the article]

A report from the Lithuanian University of Health Sciences explores sleep-related breathing disorders in pediatric obesity and Prader-Willi Syndrome (PWS). The study compared clinical and diagnostic features of sleep-related breathing disorders between children with PWS and obese children, finding that both groups are at significant risk. While obstructive sleep apnea was more common in non-PWS obese children, central sleep apnea and sleep-related hypoventilation were more prevalent in children with PWS. Both patient groups are advised to undergo polysomnography due to the risk of sleep-related breathing disorders, particularly during adolescence. [Extracted from the article]

A recent study conducted at the Experimental Laboratory for Auxo-Endocrinological Research focused on the psychological conditions of caregivers of adult subjects with Prader-Willi syndrome (PWS). The research highlighted the emotional and psychological challenges faced by caregivers of individuals with PWS, emphasizing the need for comprehensive and lifelong care for those with the syndrome. The study compared the psychological well-being of individuals with PWS and their caregivers, revealing higher levels of depression, stress, and lower overall well-being in caregivers compared to individuals with PWS. The findings provide valuable insights that could potentially enhance the quality of care for individuals with PWS. [Extracted from the article]

A recent study conducted at the University of Sydney explored the relationship between cardiac activity, behavior, and endogenous oxytocin and vasopressin in individuals with Prader-Willi Syndrome (PWS). The study found that individuals with PWS exhibited lower cardiac activity compared to typically developing controls, with differences noted between genetic subtypes. Autonomic dysfunction in PWS, particularly in the mUPD subtype, was highlighted as a potential factor contributing to these findings. This research sheds light on the complex interplay between physiological and behavioral factors in individuals with PWS. [Extracted from the article]

The article discusses a study conducted at the Research Center for Medical Genetics on Schaaf-Yang syndrome in Russian patients. The research highlights the clinical and genetic characteristics of four patients with the syndrome, caused by nucleotide variants in the MAGEL2 gene. The study emphasizes the importance of differentiating between Schaaf-Yang syndrome and Prader-Willi syndrome to optimize molecular genetic analysis for accurate diagnosis. For more information, readers can access the full article through the provided link. [Extracted from the article]

A study conducted at the University of Western Australia focuses on Prader-Willi syndrome (PWS) and the challenges individuals with PWS face when exercising in community gyms. The research aims to observe and understand the actions and interactions of people with PWS during structured exercise programs. The study, funded by various organizations, will use a focussed ethnographic approach to gather data and inform strategies to support individuals with PWS in community gym settings. The findings will be analyzed using interpretive description and thematic analysis to enhance exercise opportunities for individuals with PWS. [Extracted from the article]

Researchers from the National Research Institute for Child Health and Development conducted a study on multi-locus imprinting disturbance (MLID) in patients with imprinting disorders (IDs). They found MLID in 29 patients, with diverse methylation patterns and genetic variants, and neurodevelopmental delays in some patients. The study also highlighted a high frequency of MLID in patients conceived through assisted reproductive technology. This research provides valuable insights into the genetic and clinical aspects of MLID in patients with imprinting disorders. [Extracted from the article]

A patent application titled "High Throughput Newborn Screening Assay For Angelman And Prader-Willi Syndromes" has been published online by the US Patent and Trademark Office. The patent application describes a method for detecting DNA methylation patterns in dried blood samples from human subjects to identify Angelman syndrome and Prader-Willi syndrome. The method involves treating the DNA with sodium bisulfite, amplifying the DNA, performing a melting curve analysis, and determining the DNA methylation pattern. Early detection of these syndromes may allow for early intervention such as gene therapy. The patent application was filed by Mei Baker and is assigned to the Wisconsin Alumni Research Foundation. [Extracted from the article]

A recent study conducted by Zhejiang University School of Medicine in China examined the effectiveness of growth hormone therapy in children with Prader-Willi syndrome (PWS). The study analyzed 146 Chinese children with PWS and found that growth hormone therapy increased height/length standard deviation scores (SDS) in all children. The study also found that the impact of growth hormone therapy was similar in children with different PWS genotypes, but the deletion group was more prone to insulin resistance compared to the maternal uniparental diploidy (mUPD) group. Overall, the study suggests that children with the mUPD genotype may experience enhanced therapeutic effects from growth hormone therapy in managing PWS. [Extracted from the article]

A recent report from the Medical University of Warsaw highlights the effects of growth hormone treatment beyond growth promotion in patients with genetic syndromes. The study focuses on the use of recombinant human growth hormone therapy (rhGH) in children with genetic syndromes such as Prader-Willi syndrome, Turner syndrome, and Noonan syndrome. The research found that rhGH therapy has additional benefits beyond promoting growth, including improvements in body composition, energy expenditure, insulin sensitivity, muscle tonus, motor function, and mental and behavioral development. The study suggests that these additional effects should be considered as important indications for rhGH treatment in individuals with genetic syndromes. [Extracted from the article]

A recent study conducted by the University of Deusto in Bilbao, Spain, compared the ability to recognize emotional facial expressions among different subtypes of Prader-Willi syndrome (PWS) and a control group. The study found that children with PWS had difficulty recognizing facial emotions compared to the control group, regardless of genetic subtype. Additionally, children with the maternal uniparental disomy (mUPD) subtype of PWS showed longer reaction times in recognizing emotional facial expressions in contextualized situations, suggesting similarities to autism spectrum disorder. This research provides valuable insights into the social cognitive deficits associated with PWS. [Extracted from the article]

A recent study conducted by the Institute of Mother and Child in Warsaw, Poland, examined the differences in bone metabolism between children with Prader-Willi syndrome (PWS) undergoing growth hormone (GH) therapy and healthy children. The study found that children with PWS had lower levels of certain bone markers, such as osteocalcin (OC), and a lower OC/CTX-I ratio compared to healthy children. Additionally, children with PWS had higher levels of periostin, indicating more intensive carboxylation processes. The study suggests that impaired bone formation may contribute to bone turnover disorders in children with PWS. Further research is needed to understand the relationship between the GH/IGF-I axis and bone metabolism markers in this population. [Extracted from the article]

A recent study conducted at the University of Colombo in Sri Lanka has evaluated an in-house genetic testing method for confirming Prader-Willi syndrome (PWS) and Angelman syndrome (AS). These syndromes are caused by imprinting defects of chromosome 15q11-13. The study found that the in-house method, along with methylation-specific PCR (MS-PCR), was a reliable, cost-effective, and time-saving approach for genetic testing of suspected PWS/AS cases. The research also highlighted the need for additional testing, such as UBE3A mutation testing and imprinting center mutation/deletion testing, in certain cases. This study provides valuable insights into genetic testing methods for PWS and AS in low- and middle-income countries like Sri Lanka. [Extracted from the article]

Equilon Enterprises LLC, also known as Shell Oil Products US, is bringing back "The Giving Pump" for its fourth year. From September 1 to October 31, customers who use the designated purple pump at select Shell stations will have a portion of their purchases go towards local children's and family-focused charities. The initiative, part of Shell's Force For Good program, aims to support a range of nonprofits, including children's hospitals, schools, food pantries, and youth leadership programs. This year, The Giving Pump is supporting 552 charities across the US, including St. Jude Children's Research Hospital and Boys & Girls Clubs. [Extracted from the article]

A new report from the Research Center on Aging discusses the use of brain organoids in the study of neurodevelopmental disorders (NDD) and personalized medicine. The report highlights the limitations of traditional animal models in understanding NDD and the potential of induced pluripotent stem cells (iPSC) and brain organoids to overcome these challenges. The review provides an overview of how 3D brain organoids have been used to study various NDD and elucidate their pathophysiology. The report also discusses the benefits and limitations of using brain organoids compared to animal models and 2D cell culture systems in the field of personalized medicine. [Extracted from the article]

A recent study conducted by researchers at the University of Washington provides new insights into Prader-Willi Syndrome (PWS), a rare genetic disorder caused by the loss of paternal genes on chromosome 15. The study utilized the Aberrant Behavior Checklist (ABC) to assess problematic behaviors in individuals with PWS. The findings suggest that there is a need for systematic collection and characterization of behavioral data in order to better understand and address the maladaptive behaviors associated with PWS. The study was supported by the Foundation for Prader-Willi Research. [Extracted from the article]

A recent study conducted by researchers at Hanze University of Applied Sciences in Groningen, Netherlands, aimed to determine the prevalence of bruxism (repetitive teeth grinding or clenching) in children with profound intellectual and multiple disabilities. The study found that bruxism is highly prevalent in this population, with an overall prevalence of 49%. The disorder with the highest prevalence was Rett syndrome, with a seven-fold increased likelihood of bruxism. The researchers emphasize the importance of clinicians addressing this substantial morbidity in children with profound intellectual and multiple disabilities. [Extracted from the article]

A recent study conducted by researchers at Yale University explores the potential of epigenetic therapy for Prader-Willi syndrome (PWS), a genomic disorder caused by a deficiency of paternally expressed genes in the human chromosome 15q11-q13 region. The researchers developed a new inhibitor called MS152, which has better brain penetration and greater potency and selectivity against EHMT2/G9a compared to previous inhibitors. MS152 was found to reactivate maternally silenced PWS genes in PWS patient fibroblasts and in brain and liver tissues of PWS mouse models. The study concludes that MS152 shows promise as a first-in-class inhibitor for the epigenetic therapy of PWS in humans. [Extracted from the article]

Researchers from Karolinska University Hospital in Stockholm, Sweden have conducted a study on Prader-Willi Syndrome (PWS), a rare genetic disorder characterized by decreased social interaction, hyperphagia (excessive eating), poor behavioral control, and a high risk of morbid obesity. The study suggests that PWS may be associated with an oxytocin deficiency, as oxytocin plays a role in behavioral and metabolic effects. Some studies have shown that treatment with oxytocin can improve psycho-social behavior and hyperphagia in individuals with PWS. The research focuses on the behavioral and metabolic effects of oxytocin and the potential benefits of oxytocin treatment. [Extracted from the article]

A recent study conducted by researchers at RTI International in Research Triangle Park, North Carolina, examined the specificity of early childhood hyperphagia profiles in neurogenetic conditions. The study found that hyperphagia, or excessive eating, is highly prevalent in Prader-Willi syndrome (PWS) and has also been reported in other neurogenetic conditions. Caregivers of children with PWS, Angelman syndrome (AS), Williams syndrome (WS), and low-risk controls completed the Hyperphagia Questionnaire (HQ). The results showed that all neurogenetic condition groups had significantly higher HQ scores compared to the low-risk control group. However, hyperphagic symptoms may not differentiate PWS from other neurogenetic conditions in early childhood. The researchers suggest that further investigation of these profiles may provide insights into the causes and specific treatments for these conditions. [Extracted from the article]

A report from Kursk State Medical University in Russia discusses a rare genetic disease called Prader-Willi syndrome (PWS). The syndrome primarily affects the nervous system and can lead to various symptoms such as childhood hypotension, hypogonadism with hypogenitalism, morbid obesity, and impaired cognitive functions. The report presents a clinical case of PWS in a 10-month-old girl, highlighting the early onset of symptoms. This information may be useful for researchers and individuals interested in understanding the clinical features and course of PWS. [Extracted from the article]

A recent report from the University of Messina in Italy discusses the case of a 9-year-old boy with Prader-Willi syndrome (PWS) who developed a rare thyroid condition called Plummer's adenoma. The boy had a rapidly growing mass in his thyroid gland and underwent surgery to remove it. This is the first reported case of Plummer's adenoma in a child with PWS. Further research is needed to understand the relationship between these two conditions and identify potential risk factors. [Extracted from the article]

A recent study conducted by the University of Toronto found that 14 and 6 Hz like spike wave activity is a common finding in young patients with Prader-Willi syndrome (PWS). The researchers reviewed electroencephalograms (EEGs) of children with PWS and healthy controls who underwent diagnostic polysomnograms. They found that the prevalence of the EEG variant was 51% in children with PWS, compared to 0% in healthy children. The study did not find a correlation between the EEG variant and sleep-disordered breathing indices in children with PWS, and the clinical significance of the variant remains unknown. [Extracted from the article]

A recent report from University Hospital Toulouse in France discusses the findings of a study on Prader-Willi Syndrome (PWS). The researchers focused on the role of acylated and unacylated ghrelin levels in the switch from failure to thrive to excessive weight gain and hyperphagia in children with PWS. The study found that the ratio between acylated and unacylated ghrelin (AG/UAG ratio) was lower in the early years of life in children with PWS compared to healthy controls, but started to increase from the age of 3 years. This increase in the AG/UAG ratio coincided with the onset of hyperphagia. The study suggests that longitudinal changes in ghrelin levels may be involved in the underlying mechanisms of the switch in nutritional phases in PWS. [Extracted from the article]

A recent study conducted at the Children's Hospital at Westmead in Australia examined the outcomes of growth hormone (GH) treatment in children with Prader-Willi syndrome (PWS) over a 30-year period. The study found that GH treatment in PWS patients resulted in significant improvements in growth and body composition compared to those who were not treated with GH. The study also confirmed the high prevalence of scoliosis in GH-treated children with PWS, emphasizing the importance of close surveillance for this condition. The research provides valuable insights into the benefits and potential risks of GH treatment in PWS patients. [Extracted from the article]

The article discusses a study on the effect of internal bracing on outcomes following ACL reconstruction with bone-patellar-bone autograft, conducted by NYU Langone Health, and published in the journal Clinical Trials Week on August 19, 2024. Topics include the assessment of ACL healing through clinical, radiographic, and functional outcomes, comparison of internal bracing versus no bracing, and evaluation of pain and knee function over time.

A patent application has been filed for a method of treating Prader-Willi Syndrome (PWS) using conjugated linoleic acid (CLA) supplementation. PWS is a genetic condition that causes developmental delay, muscle weakness, intellectual disability, and obesity. The application suggests that CLA supplementation may have various benefits such as decreasing body weight, increasing lean body mass, improving testicular health, modulating gut microbiome diversity, and decreasing anxiety. The treatment can be administered in various forms and frequencies and is applicable to mammals, including humans. The patent application does not disclose any specific affiliation with a company or institution. [Extracted from the article]

A recent study conducted by the University of Alabama Birmingham explores the motivations and methods behind sharing a diagnosis of Prader-Willi Syndrome (PWS) with affected children. PWS is a genetic condition characterized by hyperphagia, behavioral challenges, and variable intellectual disability. The study found that parents and guardians were more likely to disclose the diagnosis if they had a higher level of knowledge about PWS and if their child was older or had at least one sibling. The research provides valuable insights for others considering disclosure of PWS or another rare diagnosis with their child. [Extracted from the article]

A recent study conducted at Children's Mercy Kansas City in Missouri investigated the frequency and consequences of premature pubarche (PP) in children with Prader-Willi Syndrome (PWS). The study included 43 children with PWS, 23 of whom had PP and 20 who had normal pubarche (NP). The researchers found that PP is common in PWS but does not affect final height. Contrary to previous findings in obese children without PWS, obesity and insulin resistance were not associated with PP in children with PWS. [Extracted from the article]

A recent study conducted by researchers at the University of Sao Paulo in Brazil focused on puberty in girls with Prader-Willi syndrome (PWS). PWS is a genetic disorder that can cause hypothalamic-pituitary deficiencies, including hypogonadism. The study found that girls with PWS often experience delayed onset of puberty, despite premature adrenarche. The researchers recommend starting estrogen replacement therapy for girls with PWS at the age of 12-13, taking into consideration the size of the uterus. Further research is needed to explore this topic. [Extracted from the article]

A recent study conducted at the University of California Irvine explored the relationship between thyroid function and genetic subtypes in individuals with Prader-Willi syndrome (PWS). PWS is a genetic disorder characterized by obesity and various hormonal deficiencies. The study found that there was no significant difference in thyroid function between different genetic subtypes of PWS. However, individuals who received growth hormone (GH) treatment had lower levels of thyroid-stimulating hormone (TSH) and higher levels of free thyroxine (fT4) compared to those who did not receive GH treatment. The researchers recommend regular screening for thyroid deficiency in individuals with PWS and early treatment with GH. [Extracted from the article]

A recent study conducted by researchers from the Shaare Zedek Medical Center in Jerusalem, Israel, examined the quality of life (QOL) for adults with Prader-Willi syndrome (PWS) living in residential group homes. The study found that strict regimens of restricted caloric intake and daily physical exercise, which are crucial for managing PWS, can be challenging to implement in home environments. However, PWS-specialized hostels (SH) were successful in preventing morbid obesity and managing behavioral disorders. The study concluded that living in SH was associated with benefits for physical health and behavior without negatively affecting QOL. [Extracted from the article]

A recent study conducted by Martin Luther-University Halle-Wittenberg in Germany examined the psychiatric care situation for individuals with Prader-Willi syndrome (PWS). The study found that 44.2% of individuals with PWS had at least one psychiatric comorbid diagnosis, with emotional outbursts and aggressive behavior being the main reasons for seeking psychiatric care. However, 34.9% reported that they were currently seeking psychiatric care without success. The study also noted that psychiatric comorbidity in PWS appears to be undertreated, especially in outpatient settings. The research suggests that uncertainty among mental health care providers may contribute to the off-label use of psychotropic medications. [Extracted from the article]

A recent report from the Royal Hospital for Children discusses Prader-Willi syndrome (PWS), a rare genetic neurodevelopmental disorder. The report emphasizes the importance of a multidisciplinary approach to managing PWS, with a focus on early intervention and community support. The syndrome is characterized by hypotonia, poor feeding, and faltering growth in infancy, followed by hyperphagia and rapid weight gain in childhood. Children and adolescents with PWS often experience developmental delay, learning disabilities, and various medical complications. The report provides guidance for clinicians managing PWS in pediatric and adult settings, drawing on scientific research and the expertise of clinicians in the UK and Ireland. [Extracted from the article]

This patent application discusses methods of treating seizure disorders, specifically focusing on conditions such as epilepsy, Tuberous Sclerosis Complex (TSC), infantile spasms, Lennox-Gastaut syndrome (LGS), and CDKL5 disorder. The inventor proposes the use of specific compounds to improve symptoms and next day functioning in individuals with seizure disorders. The application also mentions the genetic disease Prader-Willi syndrome (PWS) and its associated symptoms. The inventor suggests administering certain compounds to treat abnormal EEG signatures and improve symptoms in individuals with PWS. The patent application emphasizes the need for improved therapies for seizure disorders. [Extracted from the article]

A recent study conducted in Buenos Aires, Argentina, examined the use of projective psychological tests in individuals with Prader-Willi syndrome (PWS). The study aimed to evaluate the effectiveness of these tests in individuals with limited emotional expression and communication abilities. The researchers found that projective techniques, such as the house-tree-person (HTP) and family tests, were useful in identifying behavioral and emotional indicators in individuals with PWS, including anxiety, emotional lability, impulsivity, and poor social skills. The study highlights the importance of graphic techniques in understanding the thoughts and emotions of individuals with PWS who struggle with expression and communication. [Extracted from the article]

A report from Huazhong University of Science and Technology in Wuhan, China discusses a case of a child with Prader-Willi syndrome (PWS) who developed stage III diabetic nephropathy. PWS is a genetic disorder characterized by hypotonia, childhood obesity, hyperphagia, and underdeveloped external genitalia. The prevalence of type 2 diabetes mellitus in PWS is approximately 7-24%. The report highlights the use of dulaglutide, a GLP-1 receptor agonist, in the treatment of T2DM in PWS patients with diabetic nephropathy. The research provides new diagnostic and therapeutic approaches for pediatric patients with diabetic nephropathy. [Extracted from the article]

A recent study conducted at California State University examined the cytokine response to resistance exercise in children with Prader-Willi Syndrome (PWS), a genetic cause of obesity. The study compared the levels of interleukin-6 (IL-6) and tumor necrosis factor alpha (TNF-a) in children with PWS, children with normal fat mass, and children with obesity. The results showed that there were no significant differences in IL-6 or TNF-a responses to exercise based on having PWS or excess body fat. However, children with excess body fat had higher IL-6 concentrations and area under the curve (AUC) values. The study suggests that IL-6 concentrations may not have been elevated immediately after exercise due to the intensity and duration of the exercise protocol. [Extracted from the article]

A recent report discusses the potential use of neuromodulation therapies for the treatment of Prader-Willi Syndrome (PWS), a genetic disorder characterized by hyperphagia, maladaptive behaviors, and endocrinological derangements. The report summarizes the literature on non-invasive and invasive device-based neuromodulation methods, such as vagus nerve stimulation, transcranial direct current stimulation, repetitive transcranial magnetic stimulation, and deep brain stimulation, which have shown promise in addressing the major symptoms of PWS. The research emphasizes the need for multi-center and multi-country efforts to advance the field, given the low prevalence of PWS, and highlights the importance of neuroethical considerations in guiding the use of these therapies. [Extracted from the article]