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OBJECTIVE@#To explore the genetic etiology for a fetus with Walker-Warburg syndrome(WWS).@*METHODS@#A fetus with WWS diagnosed at Gansu Provincial Maternity and Child Health Care Hospital in June 9, 2021 was selected as the study subject. Genomic DNA was extracted from amniotic fluid sample of the fetus and peripheral blood samples from its parents. Trio-Whole exome sequencing (trio-WES) was carried out. Candidate variants were verified by Sanger sequencing.@*RESULTS@#The fetus was found to harbor compound heterozygous variants of the POMT2 gene, namely c.471delC (p.F158Lfs*42) and c.1975C>T (p.R659W), which were respectively inherited from its father and mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively rated as pathogenic (PVS1+PM2_Supporting+PP4) and likely pathogenic (PM2_Supporting+PM3+PP3_Moderate+PP4).@*CONCLUSION@#Trio-WES may be used for the prenatal diagnosis of WWS. The compound heterozygous variants of the POMT2 gene probably underlay the disorder in this fetus. Above finding has expanded the mutational spectrum of the POMT2 gene and enabled definite diagnosis and genetic counseling for the family.
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Pregnancy , Child , Female , Humans , Walker-Warburg Syndrome , Prenatal Diagnosis , Fetus , Genetic Counseling , Genomics , MutationABSTRACT
Nonalcoholic steatohepatitis (NASH) is a serious type of nonalcoholic fatty liver disease (NAFLD) and can develop into life-threatening liver cirrhosis and liver cancer. Toll-like receptor 4 (TLR4) is a type of pattern recognition receptor in innate immunity, and after being activated, it can trigger a cascade reaction and activate nuclear factor-κB (NF-κB) which mediates inflammatory response. The TLR4/NF-κB signaling pathway is a classic inflammatory pathway. In clinical practice, traditional Chinese medicine has achieved a good effect in the treatment of NASH, and the TLR4/NF-κB signaling pathway is one of the approaches for traditional Chinese medicine to treat NASH. By searching the relevant literature, this article summarizes the active components and compounds of traditional Chinese medicine that can regulate the TLR4/NF-κB signaling pathway to alleviate NASH, so as to provide ideas for future research and medication.
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Objective To investigate the effect of quality control circle on reducing incidence of fecal incontinence dermatitis of intensive care unit (ICU) patients. Methods Quality control circle team was set up and theme was determined then retrospective analysis was carried out for the occurrence of defect in patients with fecal incontinence dermatitis from January to May 2014 before quality control circle activities. Occurrence reasons were explored and corrective measures were formulated and implemented.After the implementation of quality control circle,the occurrence of defect from June to October 2014 was observed. Results After the implementation of quality control circle,the occurrence of fecal incontinence dermatitis reduced from 24.5%(24/98) to 10.4% (10/96) and the difference was statistically significant,χ2=6.65, P<0.05. Conclusion Quality control circle is effective for reducing the occurrence of ICU fecal incontinence dermatitis and continual improvement of nursing quality.
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Objective To investigate the correlation between S100B protein and the stability of carotid artery arteriosclero‐sis .Methods A total of 200 patients with carotid artery arteriosclerosis(CAS) were assigned as study group ,and then subdivided into stable plaques (SP)group and instable plaques (IP)group ,and 198 whoes age and gender well matched unrelated healthy sub‐jects were enrolled as control group .The levels of S100B and hs‐CRP of the 3 groups were measured by ELESA .All the diagnosis were confirmed by color Doppler and B‐ultrasound .Results The level of serum S100B was significantly higher in IP group than that of SP group and control group(P<0 .01) .There was no statistical significance between IP and SP group in the level of serum S100B(P=0 .07) .The level of hs‐CRP was significantly higher in IP group than that of SP group and control group(P<0 .01) . There was no statistical significance between IP and SP group in the level of serum hs‐CRP(P=0 .59) .Conclusion The increase of serum level of S100B in the IP CAS patients shows that S100B may take part in the pathogenic mechanism of CAS ,and regulating of S100B may become the potential therapeutic targets for CAS .
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Objective:To Compare the two-dimensional gel electrophoresis(2D-PAGE)with cerebrospinal fluid(CSF)of Parkinson’s disease patients and control group(patients with headache),and to find out the disease-specific proteins(DSPs)which are closely correlated with Parkinson’s Disease. Methods:proteins extracted from CSF were run in immobilized pH gradient isoelectic focusing(IPG-IEF)at the first dimension,and then run in vertical flat sodium dodecyl sulphate polyacrylamide gel electrophoresis(SDS-PA GE)at the second dimension. The protein spots in gels were visualized by silver staining protocol followed by gel scanning and analysised by Pdquest 8.0 software.Then differentially displayed protein spots were searched and identifiyed by MALDI-TOF-MS.Results:Three DSPs were found and they were Protein-tyrosine phosphatase 1B,Apolipoprotein E and E3 ubiquitin-protein ligase. Conclusion:There were different protein expressing in 2D-PAGE of Parkinson’s disease and control group.These proteins may be the DSPs of Parkinson’s disease and may be taked as biomarkers of Parkinson’s disease.