Publications by authors named "Ke-yan Qi"
Inherited epidermolysis bullosa (IEB) represents a group of rare genetic dermatoses comprising various phenotypes ranging from severe cutaneous and extracutaneous involvement to mild cutaneous fragility. Pathogenic variants have been identified in at least 20 genes responsible for IEB. In the present study, six cases of epidermolysis bullosa were recruited and subjected to a combination of clinical and genetic analysis.
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- Turnpenny-Fry syndrome (TPFS) is a rare genetic disorder marked by global developmental delay, intellectual disability, facial anomalies, and skeletal issues, linked to the PCGF2 gene, which is part of the polycomb repressive complex 1 (PRC1) involved in gene expression regulation.
- A clinical study focused on a 2.5-year-old boy with GDD and ID included MRI scans and genetic testing, revealing a specific genetic variant (c.194C > T) likely inherited from a mosaic father.
- The study found that this variant negatively affects the structure and stability of the PCGF2 protein, suggesting its potential role in causing GDD.
Article Synopsis
- A meta-analysis was conducted to assess if injecting hCG into the uterus before embryo transfer (ET) enhances outcomes in women undergoing IVF-ET.
- The study included 15 randomized controlled trials with 2,763 participants, comparing results between those who received the hCG injection and those who did not.
- Results showed that women who received the hCG injection had significantly higher rates of live births, ongoing pregnancies, clinical pregnancies, and implantation, along with a lower miscarriage rate, suggesting that hCG injections improve IVF-ET success.
A male newborn presented with hypospadias and differential testicular volumes. Short femur length was detected four times during pregnancy, at 23, 31, 32 and 33 weeks, by ultrasonographic examination. Chromosome analysis was performed on peripheral lymphocytes obtained from the infant and his parents.
View Article and Find Full Text PDFForkhead box class O (FOXO) transcription factors play a crucial role in longevity across species. Several polymorphisms in FOXO3 were previously reported to be associated with human longevity. However, only one Chinese replication study has been performed so far.
View Article and Find Full Text PDFThis study aimed to characterize the immunopotentiating effects and immune receptors for Coriolus versicolor mushroom polysaccharides (CVP), a Chinese medicinal fungus that exerts anti-tumor activities by enhancing host immunity. Proliferation assays were used to determine whether CVP could activate splenocytes. Flow cytometry analysis and IgM and IgG detection were used to characterize CVP-binding cells.
View Article and Find Full Text PDFBackground: The I405V polymorphism of the cholesteryl ester transfer protein gene (CETP) has been suggested to be a protective factor conferring longevity in Ashkenazi Jews, although findings in other races are not supportive. This paper describes a case-control study and a meta-analysis conducted to derive a more precise estimation of the association between CETP 405V and longevity.
Methods: We enrolled 1,021 ethnic Han Chinese participants (506 in the longevity group and 515 controls), then performed a meta-analysis that integrated the current study and previously published ones.