Publications by authors named "Binghua Dou"
Article Synopsis
- Glutamic acid decarboxylase (GAD) is an important enzyme for producing GABA, a major inhibitory neurotransmitter, and antibodies against it are linked to various neurological disorders, especially in adults, though rare in children.
- This report presents a unique case of an 8-year-old boy with anti-GAD65-positive autoimmune encephalitis tied to autoimmune polyendocrine syndrome type II, reviewing previous similar pediatric cases to analyze clinical characteristics and outcomes.
- The child experienced prolonged seizures, was treated for epilepsy, and despite initial normal brain imaging, later tests revealed abnormalities, highlighting the complexity of diagnosing and managing such conditions in pediatric patients.
Objectives: MAGI2-AS3 is a cancer suppressor gene of multiple malignancies. Acute lymphoblastic leukemia (ALL) is an important type of leukemia that especially occurs in children. Our work evaluated the modulation of MAGI2-AS3 in ALL.
View Article and Find Full Text PDFAcromesomelic dysplasia, Maroteaux type (AMDM) is a rare skeletal dysplasia characterized by severe disproportionate short stature, short hands and feet, normal intelligence, and facial dysmorphism. Homozygous or compound heterozygous mutations in the natriuretic peptide receptor 2 () gene produce growth-restricted phenotypes. The current study was designed to identify and characterize loss-of-function mutations in patients with AMDM and to explore therapeutic responses to recombinant growth hormone (rhGH).
View Article and Find Full Text PDF[Gene variant analysis of a child presented with neonatal diabetes and multiple organ malformations].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2020
Objective: To explore the genetic basis for an infant with neonatal diabetes (NDM) and multiple malformations.
Methods: Genetic variants were detected by next generation sequencing (NGS). Suspected variant was verified by Sanger sequencing.
Oncogenic Long Noncoding RNA DARS-AS1 in Childhood Acute Myeloid Leukemia by Binding to microRNA-425.
Technol Cancer Res Treat
November 2021
Objective: Acute myeloid leukemia (AML) represents a hematological cancer. The aim of the investigation was to probe the regulatory relevance of long non-coding RNA (lncRNA) aspartyl-tRNA synthetase anti-sense 1 (DARS-AS1)/microRNA-425 (miR-425)/transforming growth factor-beta 1 (TGFB1) to the development of AML.
Methods: The DARS-AS1 expression in bone marrow tissues was first analyzed in healthy subjects and AML patients.
[Phenotypic and genetic characteristics of a child with 7p15 deletion syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
August 2020
Objective: To explore the genetic basis for a child with multiple malformation and growth retardation.
Methods: The child was subjected to low-coverage massively parallel copy number variation sequencing (CNV-seq) based on next generation sequencing (NGS) technique.
Results: G-banding karyotyping analysis has found no abnormality in the boy and his parents.