Publications by authors named "Mang-Mang Guo"
Background: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare neurological degenerative disorder caused by the mutations of MLC1 or GLIALCAM with autosomal recessive or autosomal dominant inheritance and a different prognosis, characterized by macrocephaly, delayed motor and cognitive development, and bilateral abnormal signals in cerebral white matter (WM) with or without cysts on magnetic resonance imaging (MRI). This study aimed to reveal the clinical and genetic features of MLC patients with GLIALCAM mutations and to explore the brain pathological characteristics and prognosis of mouse models with different modes of inheritance.
Methods: Clinical information and peripheral venous blood were collected from six families.
[Epidemiological study on developmental delay of 18-month-old children from four districts/counties in Beijing].
Beijing Da Xue Xue Bao Yi Xue Ban
April 2013
Article Synopsis
- The study aimed to explore the prevalence, causes, and factors influencing developmental delays in 18-month-old children from four districts in Beijing between May and September 2011.
- Researchers screened 4,037 eligible children, finding a coverage rate of 78.8%, with 22 diagnosed with developmental delays, resulting in a prevalence rate of 6.91 ‰.
- Key findings indicated that developmental delay was more prevalent among boys, and the rates varied across districts, with the highest in Miyun (15.87 ‰) and the lowest in Shunyi (3.45 ‰); risk factors included low income and maternal education levels.
Objective: To explore HEPACAM mutations in a Chinese family with megalencephalic leukoencephaloptathy with subcortical cysts (MLC).
Method: Genomic DNA samples were extracted from peripheral blood of the proband and her parents. All exons and exon-intron boundaries of HEPACAM and MLC1 were amplified in the MLC family by polymerase chain reaction (PCR) followed by direct DNA sequencing.