The influence of genotype makeup on the effectiveness of growth hormone therapy in children with Prader-Willi syndrome.

Background: Prader-Willi syndrome (PWS) is a rare multisystemic hereditary illness. Recombinant human growth hormone (rhGH) therapy is widely recognized as the primary treatment for PWS. This study aimed to examine how different PWS genotypes influence the outcome of rhGH treatment in children with PWS.

Gender Difference and Changes in the Prevalence of Obesity Over Time in Children Under 12 Years Old: A Meta-analysis.

Objective: Evaluating changes over time in the odds of obesity according to sex.

Methods: PubMed, Embase, Cochrane Library, and China National Knowledge Database were searched for relevant studies. Full-text studies evaluating the influence of sex on obesity were analyzed.

Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China.

To analyze the phenotypes, genotypes, and the relationship of phenotypes and genotypes for Chinese patients with Bardet-Biedl syndrome (BBS). The Chinese Wanfang and Weipu data, and PubMed were searched up to December 2022. Patients with detailed clinical feature data were involved in the analysis.

Using as potential markers for Prader-Willi syndrome diagnosis.

The genetic disorder Prader-Willi syndrome (PWS) is mainly caused by the loss of multiple paternally expressed genes in chromosome 15q11-q13 (the PWS region). Early diagnosis of PWS is essential for timely treatment, leading to effectively easing some clinical symptoms. Molecular approaches for PWS diagnosis at the DNA level are available, but the diagnosis of PWS at the RNA level has been limited.

Effects of early recombinant human growth hormone treatment in young Chinese children with Prader-Willi syndrome.

Background: Prader-Willi syndrome (PWS) is a rare and multisystemic genetic disorder that is characterized by severe hypotonia, hyperphagia, short stature, and global developmental delay. Although early recombinant human growth hormone (rhGH) treatment has been proven to rescue some symptoms and bring additional benefits to PWS patients, studies in patients under 2 years old are scarce. Thus, this study aims to investigate the effectiveness and safety of rhGH treatment for young children.

Diabetes Education in Children and Adolescents with Type 1 Diabetes in China.

Background: The prevalence of Type 1 Diabetes is increasing in pediatrics and diabetes education plays one of the most important role in the management of diabetes, especially in children. However, the related evidence concerned diabetes education is rare in children and adolescents. Therefore, we aimed to investigate the status of diabetes education in hospital, which could help us know the reality of diabetes education.

Clinical spectrum transition and prediction model of nonalcoholic fatty liver disease in children with obesity.

Objective: This study aims to outline the clinical characteristics of pediatric NAFLD, as well as establish and validate a prediction model for the disease.

Materials And Methods: The retrospective study enrolled 3216 children with obesity from January 2003 to May 2021. They were divided into obese without NAFLD, nonalcoholic fatty liver (NAFL), and nonalcoholic steatohepatitis (NASH) groups.

Dysregulated adipose tissue expansion and impaired adipogenesis in Prader-Willi syndrome children before obesity-onset.

Objective: Prader-Willi syndrome (PWS) is a rare genetic imprinting disorder resulting from the expression loss of genes on the paternally inherited chromosome 15q11-13. Early-onset life-thriving obesity and hyperphagia represent the clinical hallmarks of PWS. The noncoding RNA gene SNORD116 within the minimal PWS genetic lesion plays a critical role in the pathogenesis of the syndrome.

Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.

Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally inherited imprinted genes on chromosome15q11.2-q13.1.

Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations.

Objective: Recessive WFS1 mutations are known to cause Wolfram syndrome, a very rare systemic disorder. However, they were also found in non-syndromic diabetes in Han Chinese misdiagnosed with type 1 diabetes (T1D), a molecular cause that appears to be considerably more common than the fully expressed syndrome. We aimed to better define the incidence and clinical features of non-syndromic diabetes due to recessive WFS1 mutation.

Abdominal Adiposity and Total Body Fat as Predictors of Cardiometabolic Health in Children and Adolescents With Obesity.

We aimed to assess the role of adipose tissue distribution in cardiometabolic risk (in particular insulin sensitivity) in a population of children and adolescents with obesity. In this cross-sectional study, participants were 479 children and adolescents with obesity (322 boys and 157 girls) aged 3 to 18 years attending the Children's Hospital at Zhejiang University School of Medicine (Hangzhou, China). Clinical assessments included anthropometry, body composition (DXA scans), carotid artery ultrasounds, and OGTT.

Chinese Siblings with Prader-Willi Syndrome Inherited from Their Paternal Grandmother.

Background: Prader-Willi syndrome (PWS) is a complex neurobehavioral disorder caused by failure of expression of paternally inherited genes in the PWS region of chromosome 15.

Case Characteristics: Two siblings who both met the inclusion criteria for clinical diagnosis of PWS during neonatal period.

Outcome: Molecular genetic analysis demonstrated a 417-kb microdeletion within the 15q11.

Gitelman syndrome combined with growth hormone deficiency: Three cases report.

Rationale: Gitelman syndrome (GS) is a rare autosomal recessive hereditary salt-losing tubulopathy caused by loss-of-function mutations in the SLC12A3 gene. It is usually characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. There are only a few reports on GS combined with growth hormone deficiency (GHD).

Maturity onset diabetes of the young (MODY) in Chinese children: genes and clinical phenotypes.

Background To investigate the clinical and molecular characteristics of Chinese children with maturity onset diabetes of the young (MODY). Methods A total of 42 Chinese patients suspected MODY referred to our unit from 2014 to 2018 were enrolled. Mutational analysis of monogenic diabetes mellitus genes was performed by next-generation sequencing and confirmed by Sanger sequencing.

[A proposal for the cutoff point of waist-to-height for the diagnosis of metabolic syndrome in children and adolescents in six areas of China].

Objective: This study aimed to determine the optimal cutoff point of Waist-to-height (WHtR) for the diagnosis of metabolic syndrome (MS) in children and adolescents in six areas of China.

Methods: Ninety thousand two hundred and eighty four children aged 6 to 15 years old from 6 areas, including Beijing, Tianjin, Zhejiang, Shanghai, Chongqing and Nanning in China, were surveyed in a random cluster sample. Receiver operating characteristic (ROC) curve analysis was employed to determine the optimal cutoff values of WHtR for detecting the children and adolescents with two or more risk factors of MS.

WT1 mutation as a cause of 46 XY DSD and Wilm's tumour: a case report and literature review.

Aim: The Wilms' Tumour gene is thought to have tumour suppressor activity and to play an important role in nephrogenesis, genitourinary development, haematopoiesis and sex determination. WT1 mutations will impair gonadal and urinary tract development and have been demonstrated to cause syndromes of WAGR, Denys-Drash and Fraiser.

Methods: To elucidate the role of constitutional mutations of WT1, in the expression of the different clinical feature, we describe a 14-year-9-month nonmosaic XY sex-reversed woman with pure gonadal dysgenesis (46, XY karyotype, completely female external genitalia, normal Mullerian ducts, absence of Wolffian ducts, streak gonads) who had right kidney removed at 7 months of age because of Wilms' tumour and was diagnosed as secondary thrombocytopenia (Plt 60-80 × 10(9) /L) since she was 4 years old.

[A 10-year review of childhood type 1 diabetes mellitus and the clinical value of interleukin-10 in diabetic ketoacidosis].

Objective: To review the incident status of childhood type 1 diabetes mellitus hospitalized in the Children's Hospital of Zhejiang University School of Medicine from 1999 to 2009 and to explore the clinical value of IL-10 in diabetic ketoacidosis.

Methods: The clinical data of 263 children with type 1 diabetes mellitus hospitalized in the Children's Hospital of Zhejiang University School of Medicine from January 1999 to February 2009 were retrospectively reviewed. Serum lipid levels were measured in 48 children with type 1 diabetes mellitus and in 24 healthy children.