Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome
In conclusion, we provide the first molecular parallels between CMS22 and PWS, raising the possibility that PREPL substrates might become therapeutic targets for treating both disorders.PMID:38626828 | DOI:10.1016/j.bbadis.2024.167175 (Source: Biochimica et Biophysica Acta)
Source: Biochimica et Biophysica Acta - April 16, 2024 Category: Biochemistry Authors: Kritika Bhalla Karen Rosier Yenthe Monnens Sandra Meulemans Ellen Vervoort Lieven Thorrez Patrizia Agostinis Daniel T Meier Anne Rochtus James L Resnick John W M Creemers Source Type: research
Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome
In conclusion, we provide the first molecular parallels between CMS22 and PWS, raising the possibility that PREPL substrates might become therapeutic targets for treating both disorders.PMID:38626828 | DOI:10.1016/j.bbadis.2024.167175 (Source: Biochimica et Biophysica Acta)
Source: Biochimica et Biophysica Acta - April 16, 2024 Category: Biochemistry Authors: Kritika Bhalla Karen Rosier Yenthe Monnens Sandra Meulemans Ellen Vervoort Lieven Thorrez Patrizia Agostinis Daniel T Meier Anne Rochtus James L Resnick John W M Creemers Source Type: research
Long-term effect of growth hormone on sleep-disordered breathing in Malaysian children with Prader-Willi syndrome: a retrospective study
Journal of Clinical Sleep Medicine, Ahead of Print. (Source: Journal of Clinical Sleep Medicine : JCSM)
Source: Journal of Clinical Sleep Medicine : JCSM - April 3, 2024 Category: Sleep Medicine Authors: Yee Ting Tan
Mohamad Shafiq Azanan
Shih Ying Hng
Kah Peng Eg
Muhammad Yazid Jalaludin
Meow Keong Thong
Sok Kun Tae
Nurshadia Samingan
Azriyanti Anuar
Anna Marie Nathan
1Department of Pediatrics, Faculty of Medicine, University Malaya, Kuala Lumpur, Malays Source Type: research
Differential DNA methylation in iPSC-derived dopaminergic neurons: a step forward on the role of SNORD116 microdeletion in the pathophysiology of addictive behavior in Prader-Willi syndrome
Molecular Psychiatry, Published online: 02 April 2024; doi:10.1038/s41380-024-02542-4Differential DNA methylation in iPSC-derived dopaminergic neurons: a step forward on the role of SNORD116 microdeletion in the pathophysiology of addictive behavior in Prader-Willi syndrome (Source: Molecular Psychiatry)
Source: Molecular Psychiatry - April 2, 2024 Category: Psychiatry Authors: Juliette Salles Sanaa Eddiry Saber Amri M élissa Galindo Emmanuelle Lacassagne Simon George Xavier Mialhe Émeline Lhuillier Nicolas Franchitto Freddy Jeanneteau Isabelle Gennero Jean-Pierre Salles Maith é Tauber Source Type: research
13. Sex Hormone Replacement Therapy and Bleeding Patterns among Adolescents and Young Adult Females with Prader-Willi Syndrome: A Retrospective Chart Review
Prader-Willi Syndrome (PWS) is a genetic imprinting syndrome associated with high rates of endocrinopathies such as growth hormone deficiency, thyroid dysfunction, and primary and central hypogonadism. True puberty is absent, delayed, or incomplete in many individuals with PWS, although premature adrenarche is common. The literature on hypogonadism in females with PWS is sparse and no guidelines exist for hypogonadism treatment. We aimed to characterize bleeding patterns and current practices of hormone replacement therapy (HRT) in adolescent and young adult PWS females at a single center in order to inform the development...
Source: Journal of Pediatric and Adolescent Gynecology - April 1, 2024 Category: OBGYN Authors: Julie Friedman, Kendra Hutchens, Leslie Appiah, Veronica Alaniz, Christine Chan Source Type: research
Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion
AbstractPrader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder of genetic etiology, characterized by paternal deletion of genes located at chromosome 15 in 70% of cases. Two distinct genetic subtypes of PWS deletions are characterized, where type I (PWS T1) carries four extra haploinsufficient genes compared to type II (PWS T2). PWS T1 individuals display more pronounced physiological and cognitive abnormalities than PWS T2, yet the exact neuropathological mechanisms behind these differences remain unclear. Our study employed postmortem hypothalamic tissues from PWS T1 and T2 individuals, conducting transcriptom...
Source: Acta Neuropathologica - March 31, 2024 Category: Neurology Source Type: research
Pharmacogenomics for Prader-Willi syndrome: caregiver interest and planned utilization
Pharmacogenomics, Ahead of Print. (Source: Future Medicine: Pharmacogenomics)
Source: Future Medicine: Pharmacogenomics - March 20, 2024 Category: Genetics & Stem Cells Authors: Yael Bar-Peled Jessica J Denton Jaimie L Richards Donna Brown Elizabeth Worthey Theresa V Strong Source Type: research
High-resolution genomic profiling and locus-specific FISH in subcutaneous and visceral adipose tissue of obese patients
Obesity is known as a heterogeneous and multifactorial disease. The distribution of body fat is crucial for the development of metabolic complications. Comprehensive genetic analyses on different fat tissues are rare but necessary to provide more detailed information. Therefore, we performed genetic analyses of three patients with obesity using high resolution genome wide SNP array (blood, visceral fat tissue) and fluorescence in situ hybridization (FISH) analyses (visceral and subcutaneous fat tissue). Altogether, we identified 31 small Copy Number Variations (losses: 1p31.1, 1p22.2, 1q21.3, 2q34, 2q37.1, 3q28, 6p25.3, 7q...
Source: Frontiers in Genetics - March 7, 2024 Category: Genetics & Stem Cells Source Type: research
Anti-M üllerian hormone, testicular descent and cryptorchidism
Anti-Müllerian hormone (AMH) is a Sertoli cell-secreted glycoprotein involved in male fetal sex differentiation: it provokes the regression of Müllerian ducts, which otherwise give rise to the Fallopian tubes, the uterus and the upper part of the vagina. In the first trimester of fetal life, AMH is expressed independently of gonadotropins, whereas from the second trimester onwards AMH testicular production is stimulated by FSH and oestrogens; at puberty, AMH expression is inhibited by androgens. AMH has also been suggested to participate in testicular descent during fetal life, but its role remains unclear. Serum AMH is ...
Source: Frontiers in Endocrinology - March 4, 2024 Category: Endocrinology Source Type: research
14 and 6 Hz like spike wave activity is a common finding in in young patients with Prader-Willi syndrome
Journal of Clinical Sleep Medicine, Ahead of Print. (Source: Journal of Clinical Sleep Medicine : JCSM)
Source: Journal of Clinical Sleep Medicine : JCSM - March 1, 2024 Category: Sleep Medicine Authors: Mohammed Alzaid
Kanokkarn Sunkonkit
Colin Massicotte
Hiroshi Otsubo
Reshma Amin
Suhail Al-Saleh
1Division of Respiratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Canada
2Pediatric Pulmonary Department, Children Specialized Source Type: research
The Prader-Willi syndrome Profile: validation of a new measure of behavioral and emotional problems in Prader-Willi syndrome
Prader-Willi syndrome (PWS) is a rare, neurodevelopmental disorder caused by the lack of expression of paternally imprinted genes on chromosome 15q11-13. PWS features a complex behavioral phenotype, including ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 23, 2024 Category: Internal Medicine Authors: Elisabeth M. Dykens, Elizabeth Roof and Hailee Hunt-Hawkins Tags: Research Source Type: research
Orthopedic manifestations in children with Prader-Willi syndrome
This study aimed to analyze the clinical characteristics of orthopedic deform... (Source: BMC Pediatrics)
Source: BMC Pediatrics - February 14, 2024 Category: Pediatrics Authors: Miao Miao, Guo-Qiang Zhao, Qiong Zhou, Yun-Qi Chao and Chao-Chun Zou Tags: Research Source Type: research
A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis
AbstractSyndromic obesity refers to obesity occurring with additional clinical findings, such as intellectual disability/developmental delay, dysmorphic features, and congenital malformations.Purpose of ReviewTo present a narrative review regarding the genetic etiology, clinical description, and molecular diagnosis of syndromic obesity, which is a rare condition with high phenotypic variability and genetic heterogeneity. The following syndromes are presented in this review: Prader-Willi, Bardet-Biedl, Pseudohypoparathyroidism, Alstr öm, Smith-Magenis, Cohen, Temple, 1p36 deletion, 16p11.2 microdeletion, Kleefstra,SIM1-rel...
Source: Current Obesity Reports - January 26, 2024 Category: Eating Disorders & Weight Management Source Type: research
Genotype-phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China
Clin Genet. 2024 Jan 23. doi: 10.1111/cge.14477. Online ahead of print.ABSTRACTThe genotype-phenotype relationship in PWS patients is important for a better understanding of the clinical phenotype and clinical characteristics of different genotypes of PWS in children. We aimed to explore the influence of specific gene changes on the clinical symptoms of PWS and the value of early screening and early intervention of the condition. All data in this study were extracted from the database of the XiaoPang Weili Rare Disease Care Center. The collected information included basic demographics, maternal pregnancy information, endoc...
Source: Clinical Genetics - January 23, 2024 Category: Genetics & Stem Cells Authors: Shujiong Mao Lili Yang Ying Gao Chaochun Zou Source Type: research
