Plasma exchange treatment of a diabetic ketoacidosis child with hyperlipidemia to avoid pancreatitis: a case report.

Type 1 diabetes mellitus (T1DM) is a metabolic disorder characterized by an absolute deficiency of insulin due to pancreatic failure. Diabetes ketoacidosis (DKA) has emerged as one of the most common complications of T1DM. Although exceedingly rare, the onset of T1DM with DKA may result in lipemia secondary to severe hypertriglyceridemia (HTG), accounting for several cases in the pediatric population.

[Clinical characteristics and genetic analysis of three children with Congenital chlorine diarrhea].

Objective: To explore the clinical characteristics and genetic basis for three children with Congenital chlorine diarrhea (CCD).

Methods: Three children with CCD who attended the Affiliated Children's Hospital of Capital Pediatric Institute from June 2014 to August 2020 were selected as the research subjects. Peripheral blood samples of the three children and their parents were collected for genetic testing.

The pharmacokinetic and pharmacodynamic properties and short-term outcome of a novel once-weekly PEGylated recombinant human growth hormone for children with growth hormone deficiency.

Objectives: To investigate the pharmacokinetics (PK) and pharmacodynamics (PD) of Y-shape branched PEGylated recombinant human growth hormone (YPEG-rhGH) and evaluate its short-term efficacy and safety in children with growth hormone deficiency (GHD).

Methods: A total of 43 children with GHD from 12 sites in China were enrolled in this randomized, multicenter, active-controlled, double-blind (YPEG-rhGH doses) trial. Patients were randomized 1:1:1:1 to 100, 120, and 140 μg/kg/week of YPEG-rhGH groups and daily rhGH 35 μg/kg/day groups.

[Clinical and genetic analysis of a patient with isolated 17,20 lyase deficiency presenting with pubertal gynecomastia].

Objective: To explore the clinical and genetic basis for a patient with isolated 17,20 lyase deficiency presenting with pubertal gynecomastia.

Methods: Clinical manifestation, steroid analysis as well as genetic testing were carried out for a 14-year-old boy featuring puberty gynecomastia.

Results: The patient was admitted due to puberty gynecomastia for 2 years.

[Analysis of clinical features and genetic variants among 12 children with Gitelman syndrome].

Objective: To summarize clinical manifestations and results of genetic testing in 12 children with Gitelman syndrome (GS).

Methods: Clinical data of the children was collected. Whole exome sequencing(WES) was carried out to screen potential variants of genomic DNA.

[Clinical and genetic analysis of a child with neonatal severe parathyroidism].

Objective: To explore the genetic basis for a child with neonatal severe hyperparathyroidism.

Methods: Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Whole exome sequencing was carried out to screen potential mutations.

Next-Generation Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Combined Features of Spherocytosis and Antley-Bixler Syndrome With Genital Anomalies and Disordered Steroidogenesis.

Conventionally, patients with combined rare diseases are often difficult to diagnose. This is because some clinicians tend to consider the multiple disease symptoms as the presentation of a complicated "syndrome." This pattern of thinking also confines their way of filtering pathogenic mutations.

[Clinical and genetic characteristics of glucose transporter type 1 deficiency syndrome].

Objective: To analyze the clinical and SLC2A1 gene mutation characteristics of glucose transporter type 1 deficiency syndrome.

Method: The detailed clinical manifestations of six cases were recorded. The laboratory tests including EEG, MRI, blood chemistry, and lumbar puncture were performed.

Allelic variations of glut-1 deficiency syndrome: the chinese experience.

Glucose transporter type 1 deficiency syndrome is characterized by infantile onset seizures, development delay, movement disorders, and acquired microcephaly. The phenotype includes allelic variants such as intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia of childhood with or without epilepsy. Dystonias involve allelic variants of glucose transporter type 1 deficiency syndrome.

X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.

Rett syndrome (RTT) is an X-linked dominant neurodevelopment disorder, which is mainly caused by gene mutation of methyl-CpG-binding protein 2 (MECP2). The correlations between genotype, X chromosome inactivation (XCI), and phenotype have been studied, but the results are conflicting. In the present study, XCI patterns in patients and their mothers, parental origin of skewed X chromosome in patients, and the correlations between XCI, genotype, and phenotype were analyzed in 52 cases of RTT with MECP2 mutations, 50 RTT mothers, and 48 normal female controls.

[X chromosome inactivation patterns in patients with Rett syndrome and their mothers and the parental origin of the priority inactive X chromosome].

Objective: Rett syndrome (RTT) is a severe childhood neurodevelopmental disorder mainly affecting females. The pathogenic gene is located at Xq28, which codes for the methyl-CpG-binding protein 2. MECP2 gene is affected by X chromosome inactivation (XCI).

[Clinical feature of Rett syndrome and MeCP2 genotype/phenotype correlation analysis].

Objective: Rett syndrome (RTT) is a neurodevelopmental disorder which causes severe mental retardation. This study aimed at elucidating clinical features of 66 Chinese RTT cases diagnosed by The Department of Pediatric Neurology, Peking University First Hospital since 1987, and at analysis of the MeCP2 genotype / phenotype correlation.

Methods: Sixty-six RTT cases were followed up every one to two years to get the information of their clinical manifestations and the response to the L-carnitine treatment which was administered to the patients at a dose of 80-100 mg/(kg d).