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Journal of Clinical Research in... May 2024Prader-Willi syndrome (PWS) and Bardet-Biedl syndrome (BBS) are causes of pediatric syndromic obesity. We aimed to investigate a possible role for ghrelin and...
OBJECTIVE
Prader-Willi syndrome (PWS) and Bardet-Biedl syndrome (BBS) are causes of pediatric syndromic obesity. We aimed to investigate a possible role for ghrelin and glucagon-like peptide-1 (GLP-1) in the pathophysiology of PWS and BBS.
METHODS
The study included 12 children with PWS, 12 children with BBS, 13 pediatric obese controls (OC) and 12 pediatric lean controls (LC). Fasting serum ghrelin and GLP-1 levels were measured by ELISA.
RESULTS
In the PWS group, no significant difference was detected for median ghrelin levels when compared with OC and LC, which were 0.96 (0.69-1.15), 0.92 (0.72-1.20) and 1.13 (0.84-1.29) ng/mL, respectively. Similarly, there was no difference in PWS median GLP-1 levels when compared with OC and LC; 1.86 (1.5-2.94), 2.24 (1.62-2.78) and 2.06 (1.8-3.41) ng/mL, respectively. In the BBS group, there was no difference in median ghrelin levels when compared with OC and LC; 1.05 (0.87-1.51), 0.92 (0.72-1.20) and 1.13 (0.84-1.29) ng/mL, respectively. Neither was there a significant difference in median GLP-1 levels; 2.46 (1.91-4.17), 2.24 (1.62-2.78) and 2.06 (1.8-3.41) ng/mL for BBS, OC and LC, respectively.
CONCLUSION
There were no differences in median fasting ghrelin or GLP-1 levels when comparing patients with PWS and BBS with obese or lean peers. However, similar studies with larger series are needed.
Topics: Humans; Ghrelin; Child; Prader-Willi Syndrome; Male; Glucagon-Like Peptide 1; Female; Bardet-Biedl Syndrome; Adolescent; Pediatric Obesity; Child, Preschool; Case-Control Studies
PubMed: 38099591
DOI: 10.4274/jcrpe.galenos.2023.2023-7-7 -
Journal of the Formosan Medical... May 2024This review summarizes the current evidence in systematic reviews, meta-analysis and randomized controlled trials regarding adenotonsillectomy outcomes in pediatric... (Review)
Review
This review summarizes the current evidence in systematic reviews, meta-analysis and randomized controlled trials regarding adenotonsillectomy outcomes in pediatric obstructive sleep apnea (OSA). Adenotonsillectomy is effective in treating OSA in children without co-morbidities, despite postoperative residual OSA remained in roughly half of these children. For children with comorbidities such as Down syndrome, Prader-Willi syndrome, sickle cell disease, or cerebral palsy, adenotonsillectomy is less effective and associated with more postoperative complications than that in children without comorbidities. For other OSA-related outcomes, evidence from meta-analyses and randomized controlled trials confirm adenotonsillectomy results in improvement of subjective OSA-related outcomes (e.g. symptoms, behaviors, and quality of life), but the results in objective OSA-related outcomes (e.g. cardiometabolic parameters or neurocognitive functions) are inconsistent. Future studies should focus on randomized controlled trials comparing objective OSA-related outcomes and the long-term effects of adenotonsillectomy in children with OSA.
Topics: Humans; Tonsillectomy; Sleep Apnea, Obstructive; Adenoidectomy; Child; Quality of Life; Randomized Controlled Trials as Topic; Treatment Outcome; Postoperative Complications
PubMed: 37718211
DOI: 10.1016/j.jfma.2023.09.004 -
Bone Reports Dec 2023The incidence of osteopenia and osteoporosis is of concern in adults with Prader-Willi syndrome (PWS). Walking generates reaction forces that could stimulate bone...
INTRODUCTION
The incidence of osteopenia and osteoporosis is of concern in adults with Prader-Willi syndrome (PWS). Walking generates reaction forces that could stimulate bone mineralization and is popular in people with PWS. This study compared bone parameters and ground reaction forces (GRF) during gait between young adults with PWS and without PWS and explored associations between bone and GRFs during gait.
METHODS
10 adults with PWS, 10 controls with obesity (OB) and 10 with normal weight (NW) matched on sex participated. Segmental and full body dual-energy x-ray absorptiometry scans provided femoral neck, spine, total body minus the head bone mineral density (BMD), bone mineral content (BMC). Vertical GRF, vertical impulse, posterior force and negative impulse were measured during 5 walking trials at a self-selected speed along a 10 m runway.
RESULTS
Multivariate analyses of variance showed that adults with PWS ( = 7-8) had hip and body BMD and BMC comparable ( > .050) to NW and lower ( < .050) than OB. Adults with PWS showed slower speed than NW (p < .050) but similar to OB ( > .050). Adults with PWS presented lower absolute vertical GRF, vertical impulse and negative impulse than OB ( < .050). Pearson r correlations ( < .050) in those with PWS (n = 7-8) indicated that femoral neck BMC was associated with vertical GRF ( = 0.716), vertical impulse ( = 0.780), posterior force ( = -0.805), and negative impulse ( = -0.748). Spine BMC was associated with speed ( = 0.829) and body BMD was associated with speed ( = 0.893), and posterior force ( = -0.780).
CONCLUSIONS
Increased BMC in the femoral neck and body were associated with larger breaking forces during walking, a phenomenon normally observed at greater gait speeds. Faster walking speed was associated with greater BMC in the spine and body. Our preliminary results suggest that young adults with PWS could potentially benefit from faster walking for bone health; however, larger prospective studies are needed to confirm this.
PubMed: 37520935
DOI: 10.1016/j.bonr.2023.101700 -
Obesity Pillars Dec 2023Increasing physical activity (PA) participation is vital to promote the development of health behaviors in childhood. This study examined which parental and familial...
BACKGROUND
Increasing physical activity (PA) participation is vital to promote the development of health behaviors in childhood. This study examined which parental and familial factors predicted completion of and compliance with a home-based family PA program in a cohort of families with a child with Prader-Willi syndrome (PWS; a rare disorder with obesity and developmental disability) or with obesity but with neurotypical development.
METHODS
Participants ( = 105) were parents of children with PWS ( = 41) and parents of children with obesity but without PWS ( = 64). Parents completed a series of questionnaires documenting their demographic characteristics, self-efficacy, social support, and family environment (active-recreational orientation and cohesion). Relationships between these factors and intervention completion and compliance were evaluated using bivariate correlations and logistic regression (compliance) and multiple regression (completion) analyses with groups together and then separately if the child group was a significant predictor.
RESULTS
None of the variables of interest (marital status, employment, employed hours per week, self-efficacy, social support, and family environment) were significant predictors of intervention completion. Intervention compliance was negatively associated with parents working part-time and working full-time and positively associated with family cohesion (Model R = 0.107, (3,100) = 4.011, = .010). Child group was not a factor.
CONCLUSIONS
Compliance with a 24-week family home-based PA intervention was related to fewer employment hours of the primary caregiver and family environment factors. Future interventions should consider how to reduce the intervention's burden in working parents along with strategies to foster family cohesion.
PubMed: 38125663
DOI: 10.1016/j.obpill.2023.100084 -
International Journal of Molecular... Feb 2024Oxytocin (Oxt) regulates thermogenesis, and altered thermoregulation results in Prader-Willi syndrome (PWS), Schaaf-Yang syndrome (SYS), and Autism spectrum disorder... (Review)
Review
Oxytocin (Oxt) regulates thermogenesis, and altered thermoregulation results in Prader-Willi syndrome (PWS), Schaaf-Yang syndrome (SYS), and Autism spectrum disorder (ASD). PWS is a genetic disorder caused by the deletion of the paternal allele of 15q11-q13, the maternal uniparental disomy of chromosome 15, or defects in the imprinting center of chromosome 15. PWS is characterized by hyperphagia, obesity, low skeletal muscle tone, and autism spectrum disorder (ASD). Oxt also increases muscle tonicity and decreases proteolysis while PWS infants are hypotonic and require assisted feeding in early infancy. This evidence inspired us to merge the results of almost 20 years of studies and formulate a new hypothesis according to which the disruption of Oxt's mechanism of thermoregulation manifests in PWS, SYS, and ASD through thermosensory abnormalities and skeletal muscle tone. This review will integrate the current literature with new updates on PWS, SYS, and ASD and the recent discoveries on Oxt's regulation of thermogenesis to advance the knowledge on these diseases.
Topics: Humans; Infant; Autism Spectrum Disorder; Body Temperature Regulation; Chromosome Disorders; Developmental Disabilities; Facies; Hypopituitarism; Imprinting Disorders; Muscle Hypotonia; Oxytocin; Prader-Willi Syndrome
PubMed: 38396741
DOI: 10.3390/ijms25042066 -
Nutrients Aug 2023Given the lack of data on dietary quality in young individuals with Prader-Willi syndrome (PWS) in Poland, a multiple case study was conducted in which anthropometric...
Given the lack of data on dietary quality in young individuals with Prader-Willi syndrome (PWS) in Poland, a multiple case study was conducted in which anthropometric measurements and 7-day dietary records were collected from 20 subjects with PWS. The study group consisted of 8 females and 12 males with a mean age of 14.8 years and a mean BMI of 21.6. Based on BMI analysis, five subjects were overweight, including two subjects who were obese. The study showed that 35% of the subjects had energy intakes above the recommended levels. Protein deficiency was found in one subject in the analyzed diets. However, fat intake was excessive in four subjects, and the majority exceeded the recommended intake of saturated fatty acids. Vitamin E and B deficiencies were found in 40% and 85% of the subjects, respectively. All subjects had inadequate intakes of vitamin D and iodine, while the majority had deficiencies in sodium and copper intakes. Calcium intake was deficient in 35% of the subjects. However, most subjects met recommendations for the intakes of other minerals, vitamins, and fiber. These findings confirm the suboptimal dietary patterns of Polish individuals with PWS, with deficits observed in the intake of certain vitamins and minerals.
Topics: Female; Male; Adolescent; Child; Young Adult; Humans; Poland; Prader-Willi Syndrome; Diet; Nutritional Status; Vitamins; Vitamin A; Vitamin K
PubMed: 37686843
DOI: 10.3390/nu15173811 -
Fertility and Sterility May 2024To assess whether the use of assisted reproductive technology for conception is associated with imprinting disorders in children and the impact of parental factors...
OBJECTIVE
To assess whether the use of assisted reproductive technology for conception is associated with imprinting disorders in children and the impact of parental factors related to infertility.
DESIGN
A nationwide register-based cohort study.
SUBJECTS
All liveborn singletons in Sweden (N = 2 084 127) between 1997-2017 with follow-up to December 31, 2018.
EXPOSURE
The use of specific methods implemented in the assisted reproductive technology MAIN OUTCOME MEASURES: The International Classification of Diseases version 10 was used to identify three distinct imprinting disorder groups: Prader-Willi/Silver-Russell syndrome, Beckwith-Wiedemann syndrome, and central precocious puberty. The Cox model combined with inverse probability treatment weights were used to estimate weighted hazard ratio (wHR) with 95% confidence interval (CI), accounting for multiple confounders.
RESULTS
A total of 1044 children were diagnosed with the disorders of interest, and 52 of them were conceived with assisted reproductive technology. The overall risk of being diagnosed with any of the studied imprinting disorders was elevated in children conceived with ART compared to all other children (HR 1.84, 95% CI: 1.38-2.45). After adjusting for parental background factors, the association was partially attenuated (wHR 1.50, 95% CI: 0.97-2.32), but remained also in the weighted comparison restricted to children of couples with known infertility (wHR 1.52, 95% CI: 1.05-2.21). For the specific diagnoses of Prader-Willi/Silver-Russell syndrome and Beckwith-Wiedemann syndrome, compared to children of couples with known infertility, children conceived with assisted reproductive technology showed a small excess risk, which could not be distinguished from the null (wHR 1.56 [95% CI: 0.93-2.62] and 1.80 [95% CI: 0.99-3.28], respectively). Further subgroup analysis showed that the combined use of intra-cytoplasmic sperm injection and cryopreserved embryos was associated with higher risk of both Prader-Willi/Silver-Russell syndrome (wHR 4.60, 95% CI: 1.72-12.28) and Beckwith-Wiedemann syndrome (wHR 6.69, 95% CI: 2.09-21.45). The number of central precocious puberty cases in children conceived with assisted reproductive technology was too small (N=3) to make any meaningful inference.
CONCLUSION
The combined use of intra-cytoplasmic sperm injection and cryopreserved embryos was associated with small elevated risks of Prader-Willi/Silver-Russell syndrome and Beckwith-Wiedemann syndrome in children, independent of parental factors related to infertlity.
PubMed: 38825304
DOI: 10.1016/j.fertnstert.2024.05.168 -
Genes May 2024Diagnosing imprinting defects in neonates and young children presents challenges, often necessitating molecular analysis for a conclusive diagnosis. The isolation of...
Establishing a Standardized DNA Extraction Method Using NaCl from Oral Mucosa Cells for Its Application in Imprinting Diseases Such as Prader-Willi and Angelman Syndromes: A Preliminary Investigation.
BACKGROUND
Diagnosing imprinting defects in neonates and young children presents challenges, often necessitating molecular analysis for a conclusive diagnosis. The isolation of genetic material from oral swabs becomes crucial, especially in settings where blood sample collection is impractical or for vulnerable populations like newborns, who possess limited blood volumes and are often too fragile for invasive procedures. Oral swab samples emerge as an excellent source of DNA, effectively overcoming obstacles associated with rare diseases.
METHODS
In our study, we specifically addressed the determination of the quality and quantity of DNA extracted from oral swab samples using NaCl procedures.
RESULTS
We compared these results with extractions performed using a commercial kit. Subsequently, the obtained material underwent MS-HRM analysis for loci associated with imprinting diseases such as Prader-Willi and Angelman syndromes.
CONCLUSIONS
Our study emphasizes the significance of oral swab samples as a reliable source for obtaining DNA for MS-HRM analysis. NaCl extraction stands out as a practical and cost-effective method for genetic studies, contributing to a molecular diagnosis that proves particularly beneficial for patients facing delays in characterization, ultimately influencing their treatment.
Topics: Humans; Mouth Mucosa; Angelman Syndrome; Prader-Willi Syndrome; DNA; Genomic Imprinting; Sodium Chloride; Infant, Newborn; Male; Imprinting Disorders
PubMed: 38790270
DOI: 10.3390/genes15050641 -
Asian Journal of Surgery Mar 2024
Review
Topics: Humans; Adolescent; Prader-Willi Syndrome; Bariatric Surgery
PubMed: 38072692
DOI: 10.1016/j.asjsur.2023.12.033 -
Translational Pediatrics May 2024Prader-Willi syndrome (PWS) is a multisystem genetic disorder caused by chromosomal imprinting gene defects, with approximately 70% of cases resulting from paternal...
BACKGROUND
Prader-Willi syndrome (PWS) is a multisystem genetic disorder caused by chromosomal imprinting gene defects, with approximately 70% of cases resulting from paternal deletion of the chromosomal region 15. The main clinical features include severe infantile hypotonia, early-onset childhood obesity, hyperphagia, and underdeveloped external genitalia. As individuals with PWS age, they may exhibit irritability, social dysfunction, impaired gonadal development, and metabolic syndrome. Previous literature places the prevalence of type 2 diabetes mellitus (T2DM) in PWS at approximately 7-24%. Oxytocin is a neuropeptide secreted by the paraventricular (PVN) and supraoptic (SON) nuclei of the hypothalamus and regulates energy metabolism, which is involved in PWS. Due to age limitations, very few patients progress to diabetic nephropathy during childhood, and reports of typical diabetic nephropathy in PWS during childhood are extremely rare. Dulaglutide is a glucagon-like peptide-1 (GLP-1) receptor agonist which can be used in the treatment of T2DM.
CASE DESCRIPTION
This article reports a case of a child with PWS complicated by stage III diabetic nephropathy, providing a retrospective analysis of the diagnosis and treatment process, as well as a review of domestic and international literature, to enhance understanding of this condition. And this article provides a treatment idea for PWS patients with diabetic nephropathy.
CONCLUSIONS
It is very important to enhance understanding of PWS. And we offer new diagnostic and possible therapeutic approaches for pediatric patients with diabetic nephropathy.
PubMed: 38840685
DOI: 10.21037/tp-23-518