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
Corrigendum: Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review
(Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - January 22, 2024 Category: Endocrinology Source Type: research
Increased IGFBP proteolysis, IGF-I bioavailability and pappalysin levels in children with Prader-Willi syndrome
CONCLUSION: The increase in PAPP-A could be involved in increased IGFBP proteolysis, promoting IGF-I bioavailability in children with PWS. Further studies are needed to establish the relationship between growth, GH resistance, and changes in the IGF axis during development and after GH treatment in these patients.PMID:38141219 | DOI:10.1210/clinem/dgad754 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - December 23, 2023 Category: Endocrinology Authors: Vicente Barrios Álvaro Martín-Rivada Gabriel Á Martos-Moreno Sandra Canelles Francisca Moreno-Maci án Carmen De Mingo-Alemany Maurizio Delvecchio Roberta Pajno Danilo Fintini Julie A Chowen Jes ús Argente Source Type: research
Isolated polyhydramnios: Is a genetic evaluation of value?
CONCLUSION: We first attempted to determine the value of exome sequencing in pregnancies with isolated polyhydramnios. Our results warrant more studies to evaluate advanced genetic testing technologies used in such pregnancies.PMID:38141485 | DOI:10.1016/j.ejogrb.2023.12.030 (Source: Reproductive Biology)
Source: Reproductive Biology - December 23, 2023 Category: Reproduction Medicine Authors: Xiao-Mei Lin Li Zhen Yun-Jing Wen Qiu-Xia Yu Dong-Zhi Li Source Type: research
Increased IGFBP proteolysis, IGF-I bioavailability and pappalysin levels in children with Prader-Willi syndrome
CONCLUSION: The increase in PAPP-A could be involved in increased IGFBP proteolysis, promoting IGF-I bioavailability in children with PWS. Further studies are needed to establish the relationship between growth, GH resistance, and changes in the IGF axis during development and after GH treatment in these patients.PMID:38141219 | DOI:10.1210/clinem/dgad754 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - December 23, 2023 Category: Endocrinology Authors: Vicente Barrios Álvaro Martín-Rivada Gabriel Á Martos-Moreno Sandra Canelles Francisca Moreno-Maci án Carmen De Mingo-Alemany Maurizio Delvecchio Roberta Pajno Danilo Fintini Julie A Chowen Jes ús Argente Source Type: research
Increased IGFBP proteolysis, IGF-I bioavailability and pappalysin levels in children with Prader-Willi syndrome
CONCLUSION: The increase in PAPP-A could be involved in increased IGFBP proteolysis, promoting IGF-I bioavailability in children with PWS. Further studies are needed to establish the relationship between growth, GH resistance, and changes in the IGF axis during development and after GH treatment in these patients.PMID:38141219 | DOI:10.1210/clinem/dgad754 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - December 23, 2023 Category: Endocrinology Authors: Vicente Barrios Álvaro Martín-Rivada Gabriel Á Martos-Moreno Sandra Canelles Francisca Moreno-Maci án Carmen De Mingo-Alemany Maurizio Delvecchio Roberta Pajno Danilo Fintini Julie A Chowen Jes ús Argente Source Type: research
