Premature ovarian insufficiency（POI） affects seriously physical and mental health of the patients. Studies show that acupuncture may be promising in treating POI. yet evidence is insufficient. International patient ...Premature ovarian insufficiency（POI） affects seriously physical and mental health of the patients. Studies show that acupuncture may be promising in treating POI. yet evidence is insufficient. International patient registry, one form of observational study, is designed for evaluating effectiveness and safety of acupuncture in real-world clinical settings. We will face a series of opportunities and challenges. The opportunities are as follows：（1） Interdisciplinary cooperation can improve the effect of acupuncture for POI.（2） The protocol for acupuncture to treat POI has room for improvement.（3） The patient registry study can make up the shortcomings of randomized controlled trials.（4） The patient registry study can collect real-world data and explore responses of different populations to acupuncture and can be the foundation for the successive studies. International patient registry may face technological, ethical and financial challenges, while the established International Patient Registry Platform of Acupuncture-Moxibustion（www.amreg.org：8082/v3） is actively responding to these challenges. Till now there have been more than 300 patients of POI enrolled on this platform.展开更多
Focal segmental glomerulosclerosis （FSGS） is a histologically identifiable gtomerular injury often leading to proteinuria and renal failure. To identify its causal genes, whole-exome sequencing and Sanger sequencing...Focal segmental glomerulosclerosis （FSGS） is a histologically identifiable gtomerular injury often leading to proteinuria and renal failure. To identify its causal genes, whole-exome sequencing and Sanger sequencing were performed on a large Chinese cohort that comprised 40 FSGS families, 50 sporadic FSGS patients, 9 independent autosomal recessive Atport＇s syndrome （ARAS） patients, and 190 ethnically matched healthy controls. Patients with extrarenal manifestations, indicating systemic diseases or other known hereditary renal diseases, were excluded. Heterozygous COL4A3 mutations were identified in five （12.5%） FSGS families and one （2%） sporadic FSGS patient. All identified mutations disrupted highly conserved protein sequences and none of them was found in either public databases or the 190 healthy controls. Of the FSGS patients with heterozygous COL4A3 mutations, segmental thinning of the glomerular base membrane （GBM） was only detected in the patient with electronic microscopy examination results available. Five ARAS patients （55.6%） had homozygous or compound-heterozygous mutations in COL4.43 or COL4A4. Serious changes in the G BM, hearing loss, and ocular abnormalities were found in 100%, 80%, and 40% of the ARAS patients, respectively. Overall, a new sub- group of FSGS patients resulting from heterozygous C01.4A3 mutations was identified. The mutations are relatively frequent in famiUes diagnosed with inherited forms of FSGS. Thus, we suggest screening for C01.4A3 mutations in familial FSGS patients.展开更多
基金Supported by Ministry of Science and Technology of the People's Republic of China through the Twelfth Five-Year National Science and Technology Pillar Program(2012BAI24B02)~~
文摘Premature ovarian insufficiency（POI） affects seriously physical and mental health of the patients. Studies show that acupuncture may be promising in treating POI. yet evidence is insufficient. International patient registry, one form of observational study, is designed for evaluating effectiveness and safety of acupuncture in real-world clinical settings. We will face a series of opportunities and challenges. The opportunities are as follows：（1） Interdisciplinary cooperation can improve the effect of acupuncture for POI.（2） The protocol for acupuncture to treat POI has room for improvement.（3） The patient registry study can make up the shortcomings of randomized controlled trials.（4） The patient registry study can collect real-world data and explore responses of different populations to acupuncture and can be the foundation for the successive studies. International patient registry may face technological, ethical and financial challenges, while the established International Patient Registry Platform of Acupuncture-Moxibustion（www.amreg.org：8082/v3） is actively responding to these challenges. Till now there have been more than 300 patients of POI enrolled on this platform.
基金This workwas supported by grants from the National Basic Research Program of China 973, grant no. 2012CB517600 （no. 2012CB517604）, the National Natural Science Foundation of China （no. 81030015, 81070568, 81370015, and 81000295）, the International Cooperation and Exchange Projects of Shanghai Science and Technology Committee （no. 14430721000）, and the Chinese Medical Association Clinical Research Special Fund （no. 13030280413）.
文摘Focal segmental glomerulosclerosis （FSGS） is a histologically identifiable gtomerular injury often leading to proteinuria and renal failure. To identify its causal genes, whole-exome sequencing and Sanger sequencing were performed on a large Chinese cohort that comprised 40 FSGS families, 50 sporadic FSGS patients, 9 independent autosomal recessive Atport＇s syndrome （ARAS） patients, and 190 ethnically matched healthy controls. Patients with extrarenal manifestations, indicating systemic diseases or other known hereditary renal diseases, were excluded. Heterozygous COL4A3 mutations were identified in five （12.5%） FSGS families and one （2%） sporadic FSGS patient. All identified mutations disrupted highly conserved protein sequences and none of them was found in either public databases or the 190 healthy controls. Of the FSGS patients with heterozygous COL4A3 mutations, segmental thinning of the glomerular base membrane （GBM） was only detected in the patient with electronic microscopy examination results available. Five ARAS patients （55.6%） had homozygous or compound-heterozygous mutations in COL4.43 or COL4A4. Serious changes in the G BM, hearing loss, and ocular abnormalities were found in 100%, 80%, and 40% of the ARAS patients, respectively. Overall, a new sub- group of FSGS patients resulting from heterozygous C01.4A3 mutations was identified. The mutations are relatively frequent in famiUes diagnosed with inherited forms of FSGS. Thus, we suggest screening for C01.4A3 mutations in familial FSGS patients.
