Objective:To explore the correlation between the clinical manifestations and genetic variations in six Chinese Stargardt disease pedigrees.Methods:Six Stargardt disease pedigrees due to ABCA4 gene variants that visited Shanxi Eye Hospital from June 2021 June 2023 were selected as the study subjects. A retrospective study method was used to collect the clinical and family history data of all members of these pedigrees. Peripheral venous blood samples of the examinees were collected, and genomic DNA was extracted for trio-WES. Candidate variants the ABCA4 gene were verified by Sanger sequencing. According to the " Standards and Guidelines for the Classification of Sequence Variants" (hereinafter referred to as the " ACMG Guidelines" ) formulated by American College of Medical Genetics and Genomics (ACMG), the variant sites of the ABCA4 gene were classified for pathogenicity. This study has been approved by the Medical Ethics Committee of Shanxi Eye Hospital (Ethics No. SXYYLL-20200620). Results:From June 2021 to June 2023, 7 patients from families with Stargardt disease with ABCA4 variants were selected as the study subjects. The age of the patients was between 7 to 53 years old, and the age of onset was between 6 to 15 years old. All patients exhibited moderate-to-severe visual impairment with macular atrophy, and yellow white spots were seen in all patients except patient Ⅱ 2 in family 5. Optical coherence tomography (OCT) results showed that the in all patients the macular fovea was significantly thinner, and IS/OS or ellipsoid zone had disappeared. Autofluorescence showed low autofluorescence in the macula, with abnormal dot autofluorescence in the paramacular and periphery retina. ERG grouping classified three pedigrees as Group 3, two as Group 1, and one as Group 2. Pedigree analysis showed that all six pedigrees had autosomal recessive inheritance, family 1, 2, 3, 4, 6 had compound heterozygous variants of the ABCA4, and family 5 had homozygous variants. A total of 11 pathogenic mutations were detected in the ABCA4 gene, of which 3 were found for the first time, including p. Glu1704Gly, p. Gly1965Glu and p. Ser1531Phe. Those carrying nonsense or frameshift mutations include patient 1 (family 1, Ⅱ 1), patient 2 (family 1, Ⅱ 2), patient 4 (family 3, Ⅱ 1), patient 6 (family 5, Ⅱ 2), and patient 7 (family 6, Ⅱ 1), whose clinical manifestations were more severe than those of patient 3 (family 2, Ⅱ 2) and patient 5 (family 4, Ⅱ 1) carrying missense mutations in terms of best corrected visual acuity(BCVA) damage. Conclusion:The ABCA4 gene variation may be the genetic cause of the Stargardt disease in this study, and the discovery of the ABCA4 gene disease variants p. Glu1704Gly, p. Gly1965Glu, p. Ser1531Phe has enriched the mutational spectrum of of Stargardt disease.

OBJECTIVE: To explore the correlation between clinical manifestations and genetic variations in six Chinese Stargardt disease pedigrees. METHODS: Six Stargardt disease pedigrees due to ABCA4 gene variants that visited Shanxi Eye Hospital from June 2021 June 2023 were selected as the study subjects. A retrospective study method was used to collect the clinical and family history data of all members of these pedigrees. Peripheral venous blood samples of the examinees were collected, and genomic DNA was extracted for trio-WES. Candidate variants of the ABCA4 gene were verified by family Sanger sequencing. According to the "Standards and Guidelines for the Classification of Sequence Variants" (hereinafter referred to as the "ACMG Guidelines") formulated by American College of Medical Genetics and Genomics (ACMG), the variant sites of the ABCA4 gene were classified for pathogenicity. This study has been approved by the Medical Ethics Committee of Shanxi Eye Hospital (Ethics No. SXYYLL-20200620). RESULTS: From June 2021 to June 2023, 7 patients (patient 1 to 7) from families with Stargardt disease with ABCA4 variants were selected as the study subjects. The age of the patients was between 7 to 53 years old, and the age of onset was between their 6 to 15 years old. All patients had exhibited moderate-to-severe visual impairment with macular atrophy, and yellow white spots were seen in all patients except patient II2 in family 5. Optical coherence tomography (OCT) results showed that all patients' macular fovea was significantly thinner, with IS/OS or ellipsoid zone disappeared. Autofluorescence showed low autofluorescence in the macula, and abnormalities dot autofluorescence in the paramacular and periphery retina. ERG grouping classified three pedigrees as Group 3, two as Group 1, and one as Group 2. Genetic analysis results showed that all pedigrees had autosomal recessive inheritance, five had compound heterozygous variants in the ABCA4, and one had homozygous variants. In total 11 pathogenic mutations were detected in the ABCA4 gene, of which 3 were found for the first time, including p.Glu1704Gly, p.Gly1965Glu and p.Ser1531Phe. Patients carrying nonsense or frameshift mutations include patient 1 (family 1, II1), patient 2 (family 1, II2), patient 4 (family 3, II1), patient 6 (family 5, II2), and patient 7 (family 6, II1), whose clinical manifestations are more severe than those of patient 3 (family 2, II2) and patient 5 (family 4, II1), whom carried missense mutations in terms of best corrected visual acuity (BCVA) damage. CONCLUSION The ABCA4 gene variations may be the genetic cause of the Stargardt disease in this study, and the discovery of the ABCA4 gene p.Glu1704Gly, p.Gly1965Glu, p.Ser1531Phe variants has enriched the mutational spectrum of Stargardt disease.
Adolescent ; Adult ; Child ; Female ; Humans ; Male ; Middle Aged ; Young Adult ; ATP-Binding Cassette Transporters/genetics* ; China ; Genetic Variation ; Macular Degeneration/congenital* ; Mutation ; Pedigree ; Retrospective Studies ; Stargardt Disease/genetics* ; East Asian People/genetics*

Objective:To explore the correlation between the clinical manifestations and genetic variations in six Chinese Stargardt disease pedigrees.Methods:Six Stargardt disease pedigrees due to ABCA4 gene variants that visited Shanxi Eye Hospital from June 2021 June 2023 were selected as the study subjects. A retrospective study method was used to collect the clinical and family history data of all members of these pedigrees. Peripheral venous blood samples of the examinees were collected, and genomic DNA was extracted for trio-WES. Candidate variants the ABCA4 gene were verified by Sanger sequencing. According to the " Standards and Guidelines for the Classification of Sequence Variants" (hereinafter referred to as the " ACMG Guidelines" ) formulated by American College of Medical Genetics and Genomics (ACMG), the variant sites of the ABCA4 gene were classified for pathogenicity. This study has been approved by the Medical Ethics Committee of Shanxi Eye Hospital (Ethics No. SXYYLL-20200620). Results:From June 2021 to June 2023, 7 patients from families with Stargardt disease with ABCA4 variants were selected as the study subjects. The age of the patients was between 7 to 53 years old, and the age of onset was between 6 to 15 years old. All patients exhibited moderate-to-severe visual impairment with macular atrophy, and yellow white spots were seen in all patients except patient Ⅱ 2 in family 5. Optical coherence tomography (OCT) results showed that the in all patients the macular fovea was significantly thinner, and IS/OS or ellipsoid zone had disappeared. Autofluorescence showed low autofluorescence in the macula, with abnormal dot autofluorescence in the paramacular and periphery retina. ERG grouping classified three pedigrees as Group 3, two as Group 1, and one as Group 2. Pedigree analysis showed that all six pedigrees had autosomal recessive inheritance, family 1, 2, 3, 4, 6 had compound heterozygous variants of the ABCA4, and family 5 had homozygous variants. A total of 11 pathogenic mutations were detected in the ABCA4 gene, of which 3 were found for the first time, including p. Glu1704Gly, p. Gly1965Glu and p. Ser1531Phe. Those carrying nonsense or frameshift mutations include patient 1 (family 1, Ⅱ 1), patient 2 (family 1, Ⅱ 2), patient 4 (family 3, Ⅱ 1), patient 6 (family 5, Ⅱ 2), and patient 7 (family 6, Ⅱ 1), whose clinical manifestations were more severe than those of patient 3 (family 2, Ⅱ 2) and patient 5 (family 4, Ⅱ 1) carrying missense mutations in terms of best corrected visual acuity(BCVA) damage. Conclusion:The ABCA4 gene variation may be the genetic cause of the Stargardt disease in this study, and the discovery of the ABCA4 gene disease variants p. Glu1704Gly, p. Gly1965Glu, p. Ser1531Phe has enriched the mutational spectrum of of Stargardt disease.

ObjectiveTo systematically analyze the effect of therapeutic exercise on neck function and quality of life in patients with neck pain and forward head posture. MethodsRandomized controlled trials about the effects of exercise training on forward head posture and neck pain were searched from PubMed, Web of science, Embase, Medline, Science Direct, EBSCO, Springlink, CNKI, VIP, and Wanfang Data from database establishment to April, 2022. The literature was screened by two researchers independently. Cochrane bias risk assessment tool and Physiotherapy Evidence Database Scale were used to evaluate the quality of the included articles. Revman 5.4 software was used for meta-analysis. ResultsA total of 416 patients from eleven literatures were included. Level 1a evidence indicated scapula stability training could effectively improve cranial vertebral angle (MD = 3.62, 95%CI 2.41 to 4.83, P < 0.001), and relieve pain (MD = 1.32, 95%CI 0.18 to 2.46, P = 0.02). Level 1b evidence indicated scapula stability training could reduce functional disability (MD = -0.92, 95%CI -1.11 to -0.74, P < 0.001). Level 1b evidence indicated deep cervical flexor training could improve cranial vertebral angle (MD = -0.83, 95%CI -1.56 to -0.10, P = 0.03), relieve pain (MD = 0.93, 95%CI 0.54 to 1.32, P < 0.001), and improve neck functional disability (MD = 2.17, 95%CI 1.39 to 2.95, P < 0.001). ConclusionScapula stability training and deep cervical flexor training can effectively improve cranial vertebral angle, relieve neck pain, and improve neck function.

Objective:To assess the efficacy of non-pharmaceutical intervention on improving sleep quality in pregnant women by network Meta-analysis.Methods:Randomized controlled clinical trials on non-pharmaceutical intervention to improve sleep quality in pregnant women were searched on Cochrane Library, PubMed, Web of Science, Embase, China Biology Medicine disc, CNKI and Wanfang Database by computer, and the search time limit was from the establishment of databases to December 2022. Two researchers independently screened the literature, extracted data and evaluated the risk of bias in the included studies. Stata 14.0 software was used to conduct a network meta-analysis.Results:Finally, a total of 26 randomized controlled trial were included, including 2 363 patients and 7 non-pharmaceutical intervention measures. The best probability ranking results of network meta-analysis showed that in terms of total score evaluation of Pittsburgh Sleep Quality Index, relaxation intervention, traditional Chinese medicine treatment, psychological intervention, exercise intervention, music therapy, sleep health education and routine nursing were ranked from high to low. In terms of dimensional evaluation of Pittsburgh Sleep Quality Index, relaxation intervention, traditional Chinese medicine treatment, psychological intervention and music therapy had better effects.Conclusions:Current evidence suggests that relaxation intervention, traditional Chinese medicine treatment, psychological intervention and music therapy may be more effective interventions in improving the sleep quality of pregnant women.

ObjectiveTo explore the effect of exercise on the postural control and muscular function around the ankle in patients with functional ankle instability (FAI) with meta-analysis. MethodsRandomized controlled trials about therapeutic exercise for FAI published before December, 2021 were searched from PubMed, EBSCO, SPORTdiscus, Medline, Science Direct, Springlink, Web of Science, Embase CNKI, VIP and Wanfang Data. The quality and evidence grades of the researches were evaluated by two researchers, and the outcomes were analyzed with RevMan 5.4. ResultsFourteen randomized controlled trials were finally included, involving 434 subjects. Compared with no exercise intervention, therapeutic exercise might significantly improve the movement of center of pressure whether with eye-open or eye-closed (eye-open, SMD = -0.28, 95%CI -0.46 to -0.09, P = 0.003; eye-closed, SMD = -0.24, 95%CI -0.40 to -0.09, P = 0.001); while therapeutic exercise might also enhance the activation of the peroneus longus before dynamic task (SMD = 0.38, 95%CI 0.05 to 0.71, P = 0.03), and activation of the peroneus longus (SMD = 0.53, 95%CI 0.16 to 0.90, P = 0.005) and tibialis anterior (SMD = 0.47, 95%CI 0.10 to 0.84, P = 0.01) after dynamic task. There was neither significant difference in the activation of the tibialis anterior (SMD = 0.48, 95%CI -0.14 to 1.11, P = 0.13), nor the peak torque ratio of eversion to inversion isokinetic strength (SMD = -0.15, 95%CI -0.46 to 0.16, P = 0.340) before dynamic task between the two groups. ConclusionTherapeutic exercise can decrease movement of center of pressure, enable anticipatory contraction of peroneus longus before dynamic tasks and compensatory contraction of peroneus longus and tibialis anterior after tasks, to make it easier to deal with external interference, maintain articular stability and prevent re-injury.

Liver is the most common metastatic site for colorectal cancer (CRC), there is no satisfied approach to treat CRC liver metastasis (CRCLM). Here, we investigated the role of a polycomb protein BMI-1 in CRCLM. Immunohistochemical analysis showed that BMI-1 expression in liver metastases was upregulated and associated with T4 stage, invasion depth and right-sided primary tumor. Knockdown

Objective: To investigate nutritional quality of school lunch in some primary schools and middle schools in the Pearl River Delta, and to provide the scientific basis for improving the nutritional quality of students lunch and formulating scientific and effective interventions. Methods: Five-day lunch meal survey by chemical analysis were conducted, and students lunch at school were recorded by meal review in three age groups from 8 primary and middle schools in the Pear River Delat area. The energy and nutrient content were obtained and compared with the reference intake of dietary nutrients of student. Results: The average protein intake at lunch of all age groups had reached the recommended standard (80%-95%), the energy supply ratio of carbohydrate in the range of 38.3%-42.3%, the energy supply ratio of fat in 63% school meal exceeded the recommended standard. Vitamin A, vitamin B 1, vitamin B 2, calcium, iron and other nutrients were seriously inadequate; while sodium intake far exceeded the recommended standard. Conclusion The main nutrients of school lunch of primary and middle school in Pearl River Delta can basically meet the growth and development needs, but there are still some deficiency and unbalanced diet nutrient content which are lower than the recommended intake. It is recommended to strengthen nutrition education of catering enterprises and school to improve the scientific combination of diets.

With the development of the COVID-19 epidemic, the psychological impacts and stress-related symptoms associated with it have gradually appeared. The preventative and therapeutic psychological crisis interventions are urgently needed. This article focused on the international psychological crisis intervention models, which included the critical incident stress management, the task model, and the assessment-crisis intervention-trauma treatment intervention model. The aim of the current study was to form the suitable interventions for COVID-19 according to existing intervention methods and the specific characteristics of COVID-19. Possible coping strategies were also proposed for COVID-19 psychological crisis, which provided a theoretical basis for establishing an integrated public health emergency system and mechanism for psychological crisis prevention, evaluation, intervention and follow-up in China.

With the development of the COVID-19 epidemic, the psychological impacts and stress-related symptoms associated with it have gradually appeared. The preventative and therapeutic psychological crisis interventions are urgently needed. This article focused on the international psychological crisis intervention models, which included the critical incident stress management, the task model, and the assessment-crisis intervention-trauma treatment intervention model. The aim of the current study was to form the suitable interventions for COVID-19 according to existing intervention methods and the specific characteristics of COVID-19. Possible coping strategies were also proposed for COVID-19 psychological crisis, which provided a theoretical basis for establishing an integrated public health emergency system and mechanism for psychological crisis prevention, evaluation, intervention and follow-up in China.