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1.
Chinese Journal of Oncology ; (12): 1-18, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1007386

RESUMO

Breast cancer is the most common malignant tumor among women in China. In 2016, there were about 306 000 new cases of breast cancer in Chinese females. Of these, about 33% (100 400) occurred in rural areas. County-level (counties or county-level cities) hospitals are the first diagnosis units for most rural breast cancer patients and play an important role in cancer prevention, screening, maintenance treatment, rehabilitation, follow-up, and referral. Due to economic and geographical constraints, county-level hospitals are relatively deficient in medical equipment, health human resources, and drug accessibility. There is an imperative need for breast cancer prevention and management guidelines that are suitable for the actual situation in China's counties. Therefore, under the policy background of hierarchical diagnosis and treatment, the Chinese expert group formulated the "Guideline for the management path and quality control of breast cancer prevention and treatment in China's counties (2023 edition)", aiming to expand the availability of quality medical resources and ensure they are better distributed among regions, enhance the capacity for breast cancer prevention and treatment, so as to improve the prognosis and quality of life of patients in China's counties. This guideline provides path diagrams which are concise, unambiguous and easy to translate into clinical practice, as reference for clinicians in county-level hospitals.


Assuntos
Humanos , Feminino , Neoplasias da Mama/prevenção & controle , Qualidade de Vida , Controle de Qualidade , Povo Asiático , China/epidemiologia
2.
Chinese journal of integrative medicine ; (12): 267-276, 2024.
Artigo em Inglês | WPRIM | ID: wpr-1010334

RESUMO

Chinese medicine (CM) diagnosis intellectualization is one of the hotspots in the research of CM modernization. The traditional CM intelligent diagnosis models transform the CM diagnosis issues into classification issues, however, it is difficult to solve the problems such as excessive or similar categories. With the development of natural language processing techniques, text generation technique has become increasingly mature. In this study, we aimed to establish the CM diagnosis generation model by transforming the CM diagnosis issues into text generation issues. The semantic context characteristic learning capacity was enhanced referring to Bidirectional Long Short-Term Memory (BILSTM) with Transformer as the backbone network. Meanwhile, the CM diagnosis generation model Knowledge Graph Enhanced Transformer (KGET) was established by introducing the knowledge in medical field to enhance the inferential capability. The KGET model was established based on 566 CM case texts, and was compared with the classic text generation models including Long Short-Term Memory sequence-to-sequence (LSTM-seq2seq), Bidirectional and Auto-Regression Transformer (BART), and Chinese Pre-trained Unbalanced Transformer (CPT), so as to analyze the model manifestations. Finally, the ablation experiments were performed to explore the influence of the optimized part on the KGET model. The results of Bilingual Evaluation Understudy (BLEU), Recall-Oriented Understudy for Gisting Evaluation 1 (ROUGE1), ROUGE2 and Edit distance of KGET model were 45.85, 73.93, 54.59 and 7.12, respectively in this study. Compared with LSTM-seq2seq, BART and CPT models, the KGET model was higher in BLEU, ROUGE1 and ROUGE2 by 6.00-17.09, 1.65-9.39 and 0.51-17.62, respectively, and lower in Edit distance by 0.47-3.21. The ablation experiment results revealed that introduction of BILSTM model and prior knowledge could significantly increase the model performance. Additionally, the manual assessment indicated that the CM diagnosis results of the KGET model used in this study were highly consistent with the practical diagnosis results. In conclusion, text generation technology can be effectively applied to CM diagnostic modeling. It can effectively avoid the problem of poor diagnostic performance caused by excessive and similar categories in traditional CM diagnostic classification models. CM diagnostic text generation technology has broad application prospects in the future.


Assuntos
Humanos , Medicina Tradicional Chinesa , Reconhecimento Automatizado de Padrão , Povo Asiático , Idioma , Aprendizagem
3.
Journal of Experimental Hematology ; (6): 1825-1830, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1010045

RESUMO

OBJECTIVE@#To investigate the phenotypes and gene frequencies of Kell blood group system K antigen and Rh blood group system D antigen in Xinjiang, and summarize and understand the distribution of Kell(K) blood type and Rh(D) blood type in this area.@*METHODS@#A total of 12 840 patients who met the inclusion criteria during physical examination and treatment in our hospital and 18 medical institutions in our district from January 1, 2019 to December 31, 2019 were collected for identification of Kell blood group system K antigen and Rh blood group System D antigen, and the distribution of K and D blood groups in different regions, genders and nationalities were investigated and statistically analyzed.@*RESULTS@#The proportion of K positive in the samples was 1.39%, the highest was 1.91% in southern Xinjiang, and the lowest was 1.03% in northern Xinjiang(P<0.01). The proportion of Rh(D) negative samples was 2.75% and the gene frequency was 16.64%. The proportion of Rh(D) negative samples was 4.03% and the gene frequency was 20.10% in southern Xinjiang, followed by eastern Xinjiang and the lowest in northern Xinjiang (P<0.01). The frequency of K antigen in Uygur nationality was the highest, reaching 2.16%, Kirgiz 1.54%, and the distribution trend of D/d antigen was similar to that of K antigen. Among women, the K positive frequency of Kazak nationality was slightly higher than that of Mongolian nationality. The highest proportion of K positive in Uygur women was 2.38%, which was higher than that in Uygur men (1.86%). The frequency of d phenotype in Kazak women was 3.15%, which was higher than that in Kirgiz (2.89%) (P<0.01).@*CONCLUSION@#The distributions of Kell(K) and Rh(D) blood groups in northern and southern Xinjiang and eastern Xinjiang had its own unique characteristics and differences. There are significant differences in blood group distribution among different ethnic groups and gender groups. In the future, k antigen detection can be included to further improve the investigation on the distribution of Kell blood group system in this region.


Assuntos
Feminino , Humanos , Masculino , Povo Asiático , China , Etnicidade , Frequência do Gene , Sistema do Grupo Sanguíneo de Kell/genética , Sistema do Grupo Sanguíneo Rh-Hr/genética
4.
Chinese Journal of Traumatology ; (6): 363-368, 2023.
Artigo em Inglês | WPRIM | ID: wpr-1009497

RESUMO

PURPOSE@#Hip fractures in elderly have a high mortality. However, there is limited literature on the excess mortality seen in hip fractures compared to the normal population. The purpose of this study was to compare the mortality of hip fractures with that of age and gender matched Indian population.@*METHODS@#There are 283 patients with hip fractures aged above 50 years admitted at single centre prospectively enrolled in this study. Patients were followed up for 1 year and the follow-up record was available for 279 patients. Mortality was assessed during the follow-up from chart review and/or by telephonic interview. One-year mortality of Indian population was obtained from public databases. Standardized mortality ratio (SMR) (observed mortality divided by expected mortality) was calculated. Kaplan-Meir analysis was used.@*RESULTS@#The overall 1-year mortality was 19.0% (53/279). Mortality increased with age (p < 0.001) and the highest mortality was seen in those above 80 years (aged 50 - 59 years: 5.0%, aged 60 - 69 years: 19.7%, aged 70 - 79 years: 15.8%, and aged over 80 years: 33.3%). Expected mortality of Indian population of similar age and gender profile was 3.7%, giving a SMR of 5.5. SMR for different age quintiles were: 3.9 (aged 50 - 59 years), 6.6 (aged 60 - 69 years), 2.2 (aged 70 - 79 years); and 2.0 (aged over 80 years). SMR in males and females were 5.7 and 5.3, respectively.@*CONCLUSIONS@#Indian patients sustaining hip fractures were about 5 times more likely to die than the general population. Although mortality rates increased with age, the highest excess mortality was seen in relatively younger patients. Hip fracture mortality was even higher than that of myocardial infarction, breast cancer, and cervical cancer.


Assuntos
Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Povo Asiático , Bases de Dados Factuais , Fraturas do Quadril/mortalidade , Hospitalização , Fatores de Risco , Índia
5.
Chinese Journal of Hepatology ; (12): 1266-1276, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1009415

RESUMO

Hepatitis A is a significant global public health concern, with severe clinical symptoms in adult cases that can progress to acute hepatic failure. With the implementation of comprehensive prevention and control measures based on vaccination, the reported incidence of hepatitis A in children has notably decreased in China, while the incidence of hepatitis A in adults has gradually increased. Vaccination against hepatitis A in adults remains a crucial preventive measure. This recommendation is formulated based on the World Health Organization's position paper on hepatitis A vaccines (2022), incorporating the latest domestic and international research advancements and opinions from domestic experts. Its aim is to provide recommendations for hepatitis A vaccination among Chinese adults, offering evidence for public health and vaccination professionals to scientifically use hepatitis A vaccines and maximize their preventive efficacy, thereby enhancing hepatitis A prevention and control efforts.


Assuntos
Adulto , Criança , Humanos , Hepatite A/prevenção & controle , Vacinas contra Hepatite A , Vacinação , Povo Asiático , China/epidemiologia
6.
Chinese Journal of Hepatology ; (12): 813-826, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1009410

RESUMO

Chinese Society of Hepatology of Chinese Medical Association organized relevant experts to update the Guidelines on the management of ascites and complications in cirrhosis in 2017 and renamed it as Guidelines on the management of ascites in cirrhosis. It provides guiding recommendations for the diagnosis and treatment of cirrhotic ascites, spontaneous bacterial peritonitis (SBP) and hepatorenal syndrome (HRS).


Assuntos
Humanos , Ascite/terapia , Povo Asiático , Síndrome Hepatorrenal/terapia , Cirrose Hepática/terapia , Peritonite/terapia
7.
Chinese Journal of Medical Genetics ; (6): 1217-1221, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1009278

RESUMO

OBJECTIVE@#To explore the correlation between clinical manifestations of Limb-girdle muscular dystrophy autosomal recessive 9 FKRP-related (R9 FKRP-related) and variants of the FKRP gene.@*METHODS@#Two children who had presented at the Children's Hospital of Nanjing Medical University respectively due to increased serum myocardial zymogram and hepatic dysfunction on September 30, 2018 and August 3, 2018 were selected as the study subjects. Clinical data of the children were collected. Both children were suspected for Duchenne or Becker muscular dystrophy for asymptomatic high creatine kinase (CK) levels. Peripheral blood samples of the children and their parents were collected for whole exome sequencing, and candidate variants were validated by Sanger sequencing.@*RESULTS@#Genetic testing revealed that both children have carried compound heterozygous variants of the FKRP gene. The c.545A>G and c.941C>T variants in child 1 have been reported previously, among which the c.545A>G is a hot spot mutation in the Chinese population. Child 2 has carried c.602T>C and c.961G>A variants, both of which were unreported previously.@*CONCLUSION@#Both children have met the diagnostic criteria for LGMD R9 FKRP-related. Carriers of the c.545A>G variant may present milder symptoms. Compared with patients carrying null variants, carriers of compound heterozygous missense variants may present with a milder phenotype, manifesting as asymptomatic high CK level.


Assuntos
Humanos , Criança , Povo Asiático/genética , Testes Genéticos , Distrofia Muscular do Cíngulo dos Membros/genética , Distrofia Muscular de Duchenne , Pentosiltransferases/genética
8.
Chinese Journal of Obstetrics and Gynecology ; (12): 565-575, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1007805

RESUMO

After the promulgation of the first edition of expert consensus on the application of chromosomal microarray analysis (CMA) technology in prenatal diagnosis in 2014, after 8 years of clinical and technical development, CMA technology has become a first-line diagnosis technology for fetal chromosome copy number deletion or duplication abnormalities, and is widely used in the field of prenatal diagnosis in China. However, with the development of the industry and the accumulation of experience in case diagnosis, the application of CMA technology in many important aspects of prenatal diagnosis, such as clinical diagnosis testimony, data analysis and genetic counseling before and after testing, needs to be further standardized and improved, so as to make the application of CMA technology more in line with clinical needs. The revision of the guideline was led by the National Prenatal Diagnostic Technical Expert Group, and several prenatal diagnostic institutions such as Peking Union Medical College Hospital were commissioned to write, discuss and revise the first draft, which was discussed and reviewed by all the experts of the National Prenatal Diagnostic Technical Expert Group, and was finally formed after extensive review and revision. This guideline is aimed at the important aspects of the application of CMA technology in prenatal diagnosis and clinical diagnosis, from the clinical application of evidence, test quality control, data analysis and interpretation, diagnosis report writing, genetic counseling before and after testing and other work specifications are elaborated and introduced in detail. It fully reflects the integrated experience, professional thinking and guidance of the current Chinese expert team on the prenatal diagnosis application of CMA technology. The compilation of the guideline for the application of CMA technology in prenatal diagnosis will strive to promote the standardization and advancement of prenatal diagnosis of fetal chromosome diseases in China.


Assuntos
Feminino , Humanos , Gravidez , Povo Asiático , Aberrações Cromossômicas , Deleção Cromossômica , Duplicação Cromossômica/genética , Variações do Número de Cópias de DNA/genética , Doenças Fetais/genética , Aconselhamento Genético , Análise em Microsséries , Cuidado Pré-Natal , Diagnóstico Pré-Natal , Guias de Prática Clínica como Assunto
9.
Chinese Journal of Epidemiology ; (12): 1335-1337, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1007407

RESUMO

Body mass index (BMI) is widely recognized as an important indicator of physical health. However, the current BMI standard and guidelines primarily focus on children and general adults, neglecting the specific needs of the oldest old aged 80 years or older. To address this gap, this guideline aims to provide recommendations on the appropriate range of BMI and weight management for the oldest old in China, including age calculation, defining the appropriate BMI range, BMI measurement indicators, and weight management strategies. It is intended to be utilized by medical and health organizations at all levels, as well as medical and nursing service institutions, to evaluate the BMI and manage the weight of the oldest old population.


Assuntos
Idoso de 80 Anos ou mais , Humanos , Povo Asiático , Índice de Massa Corporal , Peso Corporal , China , População do Leste Asiático , Valores de Referência , Promoção da Saúde/normas
10.
Chinese Journal of Surgery ; (12): 168-172, 2023.
Artigo em Chinês | WPRIM | ID: wpr-970201

RESUMO

Axillary arch is the most common type of axillary muscle fiber variation, with about 10.8% incidence in the Chinese population. Its natural forms are varied and fluid, with different starting points and terminations, and clinicians frequently lack recognition. Under commonly applicated sentinel lymph node biopsy, the axillary arch has been endowed with more clinical significance. The fabric of axillary arch will not only block lymphatic drainage in axilla and unclear anatomical level of axillary dissection, but also compress the axillary neurovascular bundle, causing upper limb venous thrombosis, lymphedema and nerve entrapment. The intumescent axillary arch may also show abnormal axillary bulge. In addition to finding axillary arch during cadaveric study and operation, several of imaging methods availably diagnose axillary arch preoperative, which can create new way for detection of axillary arch and extension of the surgical plan of sentinel lymph node biopsy. Although embryology and comparative anatomy have been used to explain the origin of the axillary arch, most of the ideas are still hypotheses and need further study.


Assuntos
Humanos , Axila , Relevância Clínica , Povo Asiático , Drenagem , Excisão de Linfonodo
11.
Chinese Journal of Surgery ; (12): 89-94, 2023.
Artigo em Chinês | WPRIM | ID: wpr-970190

RESUMO

Since trastuzumab was listed and approved for breast cancer in 2002, China has entered a new epoch of targeted therapy. Over the past 20 years, anti-human epidermal growth factor receptor 2 (HER2) targeted therapy for breast cancer in China has experienced the era of single-target, tyrosine kinase inhibitors, double-target and anti-HER2 plus antibody-drug conjugate. Advancement in the anti-HER2 targeted therapy is continuously changing the treatment mode of patients with HER2 positive status and even HER2 low expression, significantly improved their prognosis. In the past 20 years, Chinese scholars have participated in international clinical researches, completed a series of registration studies of imported drugs, developed new drugs with proprietary intellectual property rights, enriched the evidence of clinical research on HER2-targeted therapy, and formed a treatment system with both international standards and Chinese characteristics. In particular, the formulation of the Chinese Society of Clinical Oncology Breast Cancer Guidelines and the Chinese expert consensus on anti-HER2 targeted treatment in breast cancer are the concentrated embodiments of Chinese wisdom.


Assuntos
Humanos , Feminino , Neoplasias da Mama/tratamento farmacológico , Trastuzumab , Mama , Povo Asiático , China
12.
Chinese Journal of Epidemiology ; (12): 422-429, 2023.
Artigo em Chinês | WPRIM | ID: wpr-969923

RESUMO

Objective: To analyze the perceived exercise benefits and barriers and their association with physical activity time in Chinese Han children and adolescents aged 9-18 years. Methods: Data were extracted from the 2019 Chinese National Survey on Students' Constitution and Health and a total of 163 656 children and adolescents aged 9-18 years in Han ethnic group were included in the analysis. Mann-Whitney U test and Kruskal-Wallis test were used to compare the perceived exercise benefits score, perceived exercise barriers score and perceived exercise benefits to barriers ratio in the children and adolescents with different demographic characteristics and physical activity time. The differences in physical activity time in subgroups were compared with χ2 tests. log-binomial regression model was used to evaluate the association between physical activity time and perceived exercise benefits and barriers. Results: The M (Q1,Q3) of the perceived exercise benefits score, perceived exercise barriers score, and perceived exercise benefits to barriers ratio in the children and adolescents were 4.11 (3.78, 4.78), 2.70 (2.10, 3.20) and 1.55 (1.22, 2.07), respectively. Children and adolescents living in urban area, boys, those at younger age and those with physical activity time ≥1 hour had higher perceived exercise benefits score and perceived exercise benefits to barriers ratio, but lower perceived exercise barriers score (all P<0.001). The prevalence of physical activity time ≥1 hour was 41.4% in the children and adolescents. In the log-binomial model with two variables of perceived exercise benefits score and perceived exercise barriers score, for each 1-point increase in the perceived exercise benefits, the possibility of physical activity time ≥1 hour increased by 11% (OR=1.11, 95%CI: 1.10-1.12), and for each 1-point increase in the perceived exercise barriers, the possibility of physical activity time ≥1 hour decreased by 15% (OR=0.85, 95%CI: 0.84-0.85). In the log-binomial model with variable of perceived exercise benefits to barriers ratio, for each 1-point increase in the perceived exercise benefits to barriers ratio, the possibility of physical activity time ≥1 hour increased by 12% (OR=1.12, 95%CI: 1.11-1.12). Conclusion: The perceived exercise benefits and barriers are significantly associated with physical activity time in children and adolescents in China.


Assuntos
Adolescente , Criança , Humanos , Masculino , Feminino , Povo Asiático , China , Etnicidade , Exercício Físico , Estudantes
13.
Journal of Zhejiang University. Medical sciences ; (6): 371-378, 2023.
Artigo em Inglês | WPRIM | ID: wpr-982054

RESUMO

OBJECTIVES@#To develop a Chinese version of the Long-Term Conditions Questionnaire (LTCQ) and to test its reliability and validity in Chinese patients with chronic diseases.@*METHODS@#With the consent of the original authors, a Chinese version of LTCQ was developed according to the cultural adjustment guidelines. A questionnaire survey was conducted on 319 patients with chronic diseases in Sir Run Run Shaw Hospital, Wuyi County First People's Hospital and Hangzhou Gongchen Bridge Street Health Service Center. The questionnaire was evaluated by item analysis (including frequency analysis, total question correlation method and critical ratio method), reliability analysis (Cronbach's alpha coefficient) and validity analysis [including content validity (expert scoring method) and structural validity (exploratory factor analysis)].@*RESULTS@#The Chinese version of the LTCQ included 20 entries, with a Cronbach's alpha coefficient of 0.926, a retest reliability of 0.829, a split-half reliability of 0.878, an entry content validity index of 1, and a content validity index at the questionnaire level of 1. Four common factors were extracted by exploratory factor analysis, namely physical state and daily life, psychological state, support and coping, and safe environment, with a cumulative variance contribution rate of 67.244%. Discussion: The Chinese version of the LTCQ developed in this study has good reliability and validity and it may be used to assess the long-term conditions of patients with chronic diseases in China.


Assuntos
Humanos , Povo Asiático , China , Doença Crônica , Qualidade de Vida , Reprodutibilidade dos Testes , Inquéritos e Questionários
14.
Journal of Zhejiang University. Medical sciences ; (6): 361-370, 2023.
Artigo em Inglês | WPRIM | ID: wpr-982053

RESUMO

OBJECTIVES@#To develop a Chinese version of the Stress Adaption Scale (SAS) and to assess its reliability and validity among Chinese patients with multimorbidity.@*METHODS@#The Brislin model was used to translate, synthesize, back-translate, and cross culturally adapt the SAS. A total of 323 multimorbidity patients selected by convenience sampling method from four hospitals in Zhejiang province. The critical ratio method, total question correlation method, and graded response model (item characteristic curve and item discrimination) were used for item analysis. Cronbach's alpha coefficient and split-half reliability were used for the reliability analysis. Content validity analysis, structural validity analysis, and criterion association validity analysis were performed by expert scoring method, confirmatory factor analysis, and Pearson correlation coefficient method, respectively.@*RESULTS@#The Chinese version of the SAS contained 2 dimensions of resilience and thriving, with a total of 10 items. In the item analysis, the critical ratio method showed that the critical ratio of all items was greater than 3.0 (P<0.001); the correlation coefficient method showed that the Pearson correlation coefficients for all items exceeded 0.4 (P<0.01). The graded response model showed that items of the revised scale exhibited distinct item characteristic curves and all items had discrimination parameters exceeding 1.0. In the reliability analysis, Cronbach's alpha coefficient of the revised Chinese version of the SAS scale was 0.849, and the split-half reliability was 0.873. In the validity analysis, the item-level content validity index and scale-level content validity index both exceeded 0.80. In the confirmatory factor analysis, the revised two-factor model showed satisfactory fit indices (χ2/df=3.115, RMSEA=0.081, RMR=0.046, GFI=0.937, AGFI=0.898, CFI=0.936, TLI=0.915). In the criterion-related validity analysis, the Chinese version of the SAS score was negatively correlated with the Perceived Stress Scale and the Treatment Burden Questionnaire, with correlation coefficients of -0.592 and -0.482, respectively (both P<0.01).@*CONCLUSIONS@#The Chinese version of the SAS has good reliability and validity, which can be used to evaluate the stress adaption capacity among multimorbidity patients in China, and provides a reference for developing individualized health management measures.


Assuntos
Humanos , Adaptação Psicológica , Povo Asiático , China , Multimorbidade , Reprodutibilidade dos Testes , Estresse Psicológico/psicologia , Inquéritos e Questionários , Tradução , Comparação Transcultural
15.
Journal of Forensic Medicine ; (6): 296-304, 2023.
Artigo em Inglês | WPRIM | ID: wpr-981864

RESUMO

OBJECTIVES@#To provide a guideline for genealogy inference and family lineage investigation through a study of the mismatch tolerance distribution of Y-STR loci in Chinese Han male lineage.@*METHODS@#Three Han lineages with clear genetic relationships were selected. YFiler Platinum PCR amplification Kit was used to obtain the typing data of 35 Y-STR loci in male samples. The variation of Y-STR haplotypes in generation inheritance and the mismatch tolerance at 1-7 kinship levels were statistically analyzed.@*RESULTS@#Mutations in Y-STR were family-specific with different mutation loci and numbers of mutation in different lineages. Among all the mutations, 66.03% were observed on rapidly and fast mutating loci. At 1-7 kinship levels, the number of mismatch tolerance ranged from 0 to 5 on all 35 Y-STR loci, with a maximum step size of 6. On medium and slow mutant loci, the number of mismatch tolerance ranged from 0 to 2, with a maximum step size of 3; on rapidly and fast mutant loci, the number of mismatch tolerance ranged from 0 to 3, with a maximum step size of 6.@*CONCLUSIONS@#Combined use of SNP genealogy inference and Y-STR lineage investigation, both 0 and multiple mismatch tolerance need to be considered. Family lineage with 0-3 mismatch tolerance on all 35 Y-STR loci and 0-1 mismatch tolerance on medium and slow loci can be prioritized for screening. When the number of mismatch tolerance is eligible, family lineages with long steps should be carefully excluded. Meanwhile, adding fast mutant loci should also be handled with caution.


Assuntos
Masculino , Humanos , Haplótipos , Cromossomos Humanos Y/genética , Repetições de Microssatélites , Mutação , Povo Asiático/genética , China , Genética Populacional
16.
Chinese Journal of Medical Genetics ; (6): 802-806, 2023.
Artigo em Chinês | WPRIM | ID: wpr-981826

RESUMO

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with recurrent fetal hydrocephalus.@*METHODS@#A couple who had presented at the Affiliated Hospital of Putian College on March 3, 2021 was selected as the study subject. Following elective abortion, fetal tissue and peripheral blood samples were respectively obtained from the abortus and the couple, and were subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.@*RESULTS@#The fetus was found to harbor compound heterozygous variants of the B3GALNT2 gene, namely c.261-2A>G and c.536T>C (p.Leu179Pro), which were inherited from its father and mother, respectively.According to the guidelines of American College of Medical Genetics and Genomics, both variants were classified as pathogenic (PVS1+PM2_Supporting; PM3+PM2_Supporting+PP3+PP4).@*CONCLUSION@#The compound heterozygous variants of the B3GALNT2 gene probably underlay the α-dystroglycanopathy in this fetus. Above results have provided a basis for genetic counseling of this pedigree.


Assuntos
Feminino , Humanos , Gravidez , Feto Abortado , Povo Asiático/genética , População do Leste Asiático , Feto , Aconselhamento Genético , Mutação , N-Acetilgalactosaminiltransferases , Linhagem , Síndrome de Walker-Warburg/genética
17.
Journal of Southern Medical University ; (12): 900-905, 2023.
Artigo em Chinês | WPRIM | ID: wpr-987002

RESUMO

OBJECTIVE@#To evaluate the psychometric properties and applicability of the 6-item University of California Los Angeles (UCLA) Loneliness Scale (ULS-6) in adults.@*METHODS@#We conducted 2 surveys to assess the validity of different measurement scales and questionnaires. In Survey 1, a total of 1480 adults were measured using the UCLA Loneliness Scale (ULS), Patient Health Questionnaire-9 (PHQ-9) and Perceived Social Support Scale (PSSS), and the data were used for item analysis and assessment of the reliability, validity and measurement invariance. In Survey 2, UCLA Loneliness Scale was used for measurement in 652 college students, and the data were used for analysis of the criterion validity of ULS-6; 3 weeks later, 300 of the students were retested using ULS-6 to assess the retest reliability of the scale.@*RESULTS@#Item analysis suggested that the items in ULS-6 all had good discrimination power with discrimination indexes all above 0.775 (r=0.775-0.820, P < 0.001). Measuring only one dimension, ULS-6 had an internal consistency reliability of 0.891, a split-half reliability of 0.875, and a retest reliability of 0.726. The correlation coefficients of ULS-6 with ULS, ULS-8, PHQ-9 and PSSS were 0.882, 0.967, 0.528 and -0.532, respectively. The measurement invariances of ULS-6 across genders and age groups were all acceptable. Among the adult participants, the mean total score of ULS-6 was 12.97 ± 3.96; While only 20% of the adults had no loneliness, 80% of them exhibited varying degrees of loneliness, ranging from mild (39.6%) and moderate (25.7%) to intense (14.7%) feelings of loneliness.@*CONCLUSION@#The ULS-6 has good reliability, validity and applicability for measurement of loneliness in Chinese adults.


Assuntos
Adulto , Feminino , Humanos , Masculino , Povo Asiático , Emoções , Reprodutibilidade dos Testes , Estudantes , Solidão
18.
Journal of Peking University(Health Sciences) ; (6): 415-420, 2023.
Artigo em Chinês | WPRIM | ID: wpr-986870

RESUMO

OBJECTIVE@#To analyze the association between different growth patterns and metabolic syndrome in children and adolescents aged 7 to 17 years, and to provide suggestions for the prevention and control of metabolic syndrome in Chinese children and adolescents.@*METHODS@#Data were collected from the research project "Development and Application of Technology and Related Standards for Prevention and Control of Major Diseases among Students" of public health industry in 2012. This project is a cross-sectional study design. A total of 65 347 students from 93 primary and secondary schools in 7 provinces including Guangdong were selected by stratified cluster random sampling method. Given the budget, 25% of the students were randomly selected to collect blood samples. In this study, 10 176 primary and middle school students aged 7 to 17 years with complete physical measurements and blood biochemical indicators were selected as research objects. Chi-square test was used to compare the distribution differences of growth patterns under different demographic characteristics. Birth weight, waist circumference and blood biochemical indexes were expressed in the form of mean ± standard deviation, and the differences among different groups were compared by variance analysis. Binary Logistic regression model was used to analyze the relationship between different growth patterns and metabolic syndrome in children and adolescents aged 7 to 17 years.@*RESULTS@#The prevalence of metabolic syndrome in children and adolescents was 6.56%, 7.18% in boys and 5.97% in girls. The risk of metabolic syndrome was higher in the catch-down growth group than in the normal growth group (OR=1.417, 95%CI: 1.19-1.69), and lower in the catch-up growth group(OR=0.66, 95%CI: 0.53-0.82). After adjusting for gender, age and so on, the risk of developing metabolic syndrome in the catch-down growth group was higher than that in the normal growth group (OR=1.25, 95%CI: 1.02-1.52), but there was no significant difference between the catch-up growth group and the normal growth group (OR=0.79, 95%CI: 0.62-1.01). Stratified analysis showed that the association between different growth patterns and metabolic syndrome was statistically significant in the 7-12 years group, urban population, and Han Chinese student population.@*CONCLUSION@#There is a correlation between different growth patterns and metabolic syndrome in children and adolescents. The risk of developing metabolic syndrome in children and adolescents with catch-down growth is higher than that in the normal growth group, which suggests that attention should be paid to the growth and development of children and adolescents, timely correction of delayed growth and prevention of adverse health outcomes.


Assuntos
Masculino , Feminino , Humanos , Criança , Adolescente , Síndrome Metabólica/epidemiologia , Estudos Transversais , Estudantes , População Urbana , Povo Asiático , China/epidemiologia , Prevalência
19.
Chinese Journal of Hepatology ; (12): 688-691, 2023.
Artigo em Chinês | WPRIM | ID: wpr-986195

RESUMO

In the past 20 years, Chinese Medical Association had issued several versions of hepatitis C prevention and treatment guidelines. In the latest guidelines published in 2022, the Chinese Society of Hepatology and the Society of Infectious Diseases for the Chinese Medical Association organized experts to update their recommendations for hepatitis C screening and treatment. The updated key points on prevention, diagnosis, and treatment proposed in the guidelines are now interpreted, aiming to provide reference for more effective clinical application of the guidelines.


Assuntos
Humanos , Hepacivirus , Hepatite C/prevenção & controle , Programas de Rastreamento , Povo Asiático
20.
Chinese Journal of Epidemiology ; (12): 1080-1085, 2023.
Artigo em Chinês | WPRIM | ID: wpr-985636

RESUMO

Objective: To characterize the incidence density of systematic lupus erythematosus (SLE) in Yinzhou District of Ningbo from 2016 to 2021, and compare the age and gender specific differences. Methods: A retrospective cohort study was conducted based on the related data from 2015 to 2021 collected from the Health Information Platform of Yinzhou. Suspected SLE cases in local residents were identified by fuzzy matching of International Classification of Diseases 10th edition code "M32" or Chinese text "lupus". The classification criteria from Systemic Lupus International Collaboration Clinics-2012 and The European League Against Rheumatism/American College of Rheumatology-2019 were used for case verification. SLE cases were identified with specific algorithm based on verification results, and new cases were identified with 1 year as the washout period. The incidence density and 95%CI were estimated by Poisson distribution. Results: From 2016 to 2021, a total of 1 551 921 permanent residents were registered in Yinzhou, in whom 51.52% were women. The M(Q1,Q3) age at enrollment was 40.38 (27.54, 53.54) years. The M(Q1,Q3) of follow-up person-years was 3.83 (0.41, 5.83) years. There were 451 new SLE cases, in which 352 were women (78.05%). The 6-year incidence density was 8.14/100 000 person-years (95%CI: 7.41/100 000 person-years-8.93/100 000 person-years) for the total population, 3.68/100 000 person-years (95%CI: 2.99/100 000 person-years-4.48/100 000 person-years) for men and 12.37/100 000 person-years (95%CI: 11.11/100 000 person-years- 13.73/100 000 person-years) for women. The incidence density in men appeared a small peak at 20-29 years old, and began to increase with age from 40 years old. The incidence density in women was highest in age group 20-29 years (16.57/100 000 person-years) and remained to be high until 30-79 years old. The incidence density of SLE in Yinzhou show no significant temporal trend from 2016 to 2021 (men: P=0.848; women: P=1.000). Conclusions: The incidence density of SLE in Yinzhou from 2016 to 2021 was similar to those of other areas in China. SLE has a high incidence in women, especially in the young and elderly, suggesting that more attention should be paid to the diagnosis and treatment of SLE in women.


Assuntos
Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Povo Asiático , Incidência , Lúpus Eritematoso Sistêmico/diagnóstico , Estudos Retrospectivos , China/epidemiologia
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