Influence of disease course and comprehensive management on blood glucose level in children and adolescents with type 2 diabetes mellitus.

Aims/introduction: The aim of the present study was to evaluate the status of glycemic control, and assess the effects of the disease course and comprehensive management measures on the blood glucose level in children and adolescents with type 2 diabetes mellitus.

Materials And Methods: The study collected the clinical data of type 2 diabetes patients in Beijing Children's Hospital from January 2015 to September 2020. Patients were grouped based on the disease course to compare their glycated hemoglobin (HbA1c) level, islet β-cell function, insulin resistance and comprehensive management measures.

Novel Variant in a Chinese Patient with 3M Syndrome: The c.458dupG Mutation May Be a Potential Hotspot Mutation in the Chinese Population.

3M syndrome is an autosomal recessive disorder characterized by short stature and skeletal developmental abnormalities. A Chinese girl with 3M syndrome and a novel (obscurin-like 1 gene) variant is presented. The patient is a 2-year-old girl who presented with short stature and had intrauterine growth retardation and low birth weight.

A synonymous variant leading to MODY13: A case report and literature review.

Background: Maturity-onset diabetes of the young, type 13 (MODY13) is a specific subclass of monogenic diabetes mellitus that does not exhibit the typical clinical manifestations of diabetes, necessitating the use of genetic testing for accurate diagnosis. With the progression of monogenic diabetes and MODY, the number of reported MODY13 cases has reached a minimum of 22. Nevertheless, there remains a dearth of information regarding patients diagnosed with MODY13 presenting synonymous variants.

Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management.

Congenital hyperinsulinemia (CHI), is a clinically heterogeneous disorder that presents as a major cause of persistent and recurrent hypoglycemia during infancy and childhood. There are 16 subtypes of CHI-related genes. Phosphomannomutase 2 hyperinsulinemia (PMM2-HI) is an extremely rare subtype which is first reported in 2017, with only 18 families reported so far.

Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment.

Congenital hyperinsulinism (CHI) is a genetically heterogeneous disease, in which intractable, persistent hypoglycemia is induced by excessive insulin secretion and increased serum insulin concentration. To date,15 genes have been found to be associated with the pathogenesis of CHI. Glutamate dehydrogenase hyperinsulinism (GDH-HI) is the second most common type of CHI and is caused by mutations in the glutamate dehydrogenase 1 gene.

C.487C>T mutation in PAX4 gene causes MODY9: A case report and literature review.

Rationale: Maturity-onset diabetes of the young (MODY) is a group of autosomal dominant monogenic diabetes mellitus with a wide range of clinical manifestations that require distinct treatment strategies. MODY9 (OMIM # 612225) is a rare type of MODY, caused by a mutation in the Paired box gene 4 (PAX4).

Patient Concern: A 19-months boy was admitted to the department of endocrinology at Beijing Children's Hospital due to excessive water drinking, polyuria for over half a month, and wheezing for 3 days.

Case report: Clinical manifestations and genotype analysis of a child with and mutations.

Background: The gene, located at 12q24. 13, encodes protein tyrosine phosphatase 2C. Mutations in the gene can lead to various phenotypes, including Noonan syndrome and LEOPARD syndrome.

Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism.

Congenital hyperinsulinism (CHI), a major cause of persistent and recurrent hypoglycemia in infancy and childhood. Numerous pathogenic genes have been associated with 14 known genetic subtypes of CHI. Adenosine triphosphate-sensitive potassium channel hyperinsulinism (KATP-HI) is the most common and most severe subtype, accounting for 40-50% of CHI cases.

Retrospective analysis of 23 Chinese children with congenital hyperinsulinism undergoing pancreatectomy.

Introduction: The aim of the study was to discuss therapeutic effect and prognosis of pancreatectomy in the treatment of congenital hyperinsulinism (CHI).

Material And Methods: A total of 23 Chinese children with CHI, who had undergone pancreatectomy, were selected as the study objects. The clinical data, the results of the ¹⁸Fluoro-L-3-4 dihydroxyphenylalanine positron emission tomography/computerized tomography (¹⁸F-DOPA PET/CT) scanning, and the diagnosis, treatment, and follow-up were analysed retrospectively.

Analysis of clinical and genetic characteristics of Chinese children with congenital hyperinsulinemia that is spontaneously relieved.

Objective: This study aimed to analyze the clinical and genetic characteristics of Chinese children with congenital hyperinsulinemia (CHI) that is spontaneously relieved.

Methods: The patient group comprised 200 children with CHI that were treated at the Beijing Children's Hospital from January 2006 to December 2018. The patients were divided into two groups according to their prognosis: the spontaneous remission group (n = 92) and the nonspontaneous remission group (n = 108).

MODY10 caused by c.309-314del CCAGCT insGCGC mutation of the insulin gene: a case report.

Objective: This study aims to report the clinical features and gene mutation of a rare MODY10 patient in China.

Methods: This study summarizes the clinical data of a MODY10 child in the Endocrine Department of our hospital and an analysis and discussion of the results of the gene sequencing of the child.

Results: The child was a two-year-old boy.

[Floating-Harbor syndrome: a case report and literature review].

Floating-Harbor syndrome (FHS) is an autosomal dominant genetic disease caused by SRCAP mutation. This article reports the clinical features of a boy with FHS. The boy, aged 11 years and 7 months, attended the hospital due to short stature for more than 8 years and had the clinical manifestations of unusual facial features (triangularly shaped face, thin lips and long eyelashes), skeletal dysplasia (curvature finger), expressive language disorder, and retardation of bone age.

Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia.

This study aims to summarize and analyze the clinical manifestations, genetic characteristics, treatment modalities and long-term prognosis of congenital hyperinsulinemia (CHI) in Chinese children. Sixty children with CHI, who were treated at Beijing Children's Hospital from January 2014 to August 2017, and their families, were selected as subjects. The CHI-related causative genes in children were sequenced and analyzed using second-generation sequencing technology.

Differential stem cell aging kinetics in Hutchinson-Gilford progeria syndrome and Werner syndrome.

Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome (WS) are two of the best characterized human progeroid syndromes. HGPS is caused by a point mutation in lamin A (LMNA) gene, resulting in the production of a truncated protein product-progerin. WS is caused by mutations in WRN gene, encoding a loss-of-function RecQ DNA helicase.

Mutational analysis of ABCC8, KCNJ11, GLUD1, HNF4A and GCK genes in 30 Chinese patients with congenital hyperinsulinism.

We conducted a cohort study to elucidate the molecular spectrum of congenital hyperinsulinism (CHI) in Chinese pediatric patients. Thirty Chinese children with CHI were chosen as research subjects, 16 of whom were responsive to diazoxide and 13 of whom were not (1 patient was not given the drug for medical reasons). All exons of the adenosine triphosphate (ATP)-sensitive potassium channel (KATP channel) genes KCNJ11 and ABCC8, the hepatocyte nuclear factor 4 α (HNF4A) gene, and the Glucokinase (GCK) gene as well as exons 6 and 7 and 10-12 of the glutamate dehydrogenase 1 (GLUD1) gene were amplified from genomic DNA and directly sequenced.

KCNJ11 gene mutation analysis on nine Chinese patients with type 1B diabetes diagnosed before 3 years of age.

Aim: The term type 1B diabetes mellitus (T1BDM) refers tonon-autoimmune-mediated type 1 diabetes. Recent studies revealed that monogenic mutations contribute to the genetic onset mechanism of this group. In this study, nine patients with T1BDM were selected as research subjects, and the 5' untranslated region and the exon of KCNJ11 gene were sequenced in order to study the genetic onset mechanism of T1BDM.

Clinical analysis on 33 patients with hypothalamic syndrome in Chinese children.

Aim: To investigate the etiology and clinical characteristics of hypothalamic syndrome in Chinese children.

Methods: Thirty-three cases of hypothalamic syndrome were analyzed for etiology, initial symptoms, and clinical characteristics.

Results: All of the 33 patients manifested symptoms of hypothalamic dysfunction and disorders of the hypothalamus-hypophysis-target gland axis.

KCNJ11 in-frame 15-bp deletion leading to glibenclamide-responsive neonatal diabetes mellitus in a Chinese child.

The ATP-sensitive K+ channel controls insulin secretion from the islet. Mutations in KCNJ11 can cause permanent and transient neonatal diabetes. To date, more than 30 KCNJ11 mutations have been revealed as related to the onset of neonatal diabetes mellitus (NDM), most of which are responsive to glibenclamide treatment.

[ABCC8, KCNJ11 and GLUD1 gene mutation analysis in congenital hyperinsulinism pedigree].

Objective: To explore the ABCC8, KCNJ11, and GLUD1 gene mutations of the 11 patients diagnosed as congenital hyperinsulinism (CHI).

Methods: A total of 11 CHI children hospitalized in Beijing Children's Hospital from November 2008 to February 2012 and their parents were chosen as the study subjects. Direct sequencing of PCR-DNA was used to analyze the 39 exons of ABCC8 gene, non-translational region and exon of KCNJ11 gene and 6, 7, 10, 11 and 12 exons of GLUD1 gene.

KCNJ11 in-frame 15-bp deletion leading to glibenclamide- responsive neonatal diabetes mellitus in a Chinese child.

The ATP-sensitive K+ channel controls insulin secretion from the islet. Mutations in KCNJ11 can cause permanent and transient neonatal diabetes. To date, more than 30 KCNJ11 mutations have been revealed as related to the onset of neonatal diabetes mellitus (NDM), most of which are responsive to glibenclamide treatment.

The treatment effect of diazoxide on 44 patients with congenital hyperinsulinism.

Objective: To study the treatment effect and safety of diazoxide on patients with congenital hyperinsulinism (CHI).

Research Design And Methods: A total of 44 patients who have been hospitalized to our hospital and used diazoxide as a trial after diagnosis of CHI were chosen as research subjects. The clinical data of the patients were analyzed, and the treatment effects and safety of diazoxide on CHI were evaluated.