The clinical spectrum of a nonsense mutation in KAT6A: a case report.

KAT6A syndrome is an autosomal dominant genetic disorder associated with intellectual disability due to mutations in the lysine acetyltransferase 6A (KAT6A) gene. There are some differences in phenotype between KAT6A gene variants. This current case report describes a 1-month-old male infant that had a nonsense mutation in the KAT6A gene. Neither of his parents had the mutation. The proband had feeding difficulties and a physical examination revealed the following: moderate dysphagia, hypoplastic laryngeal cartilage, poor audio-visual response, poor head-up ability, no active grasping awareness, microcephaly, high arched palate and he was significantly behind other children of the same age. Echocardiography showed that the foramen ovale was not closed. He was diagnosed with atrial septal defect (ASD) when 2 years old. The patient received ASD repair at 32 months of age. Head colour Doppler ultrasonography and brain magnetic resonance imaging showed cysts in the right ventricle and choroid plexus, which returned to normal at 2 years of age. This current case demonstrates that immediate surgery should be considered in newborns with KAT6A syndrome presenting with a heart malformation. A new KAT6A syndrome phenotype is described in this current case report, which requires early diagnosis and treatment.

[Retrospective and cost-effective analysis of the result of Changsha Municipal Public Welfare Program by Noninvasive Prenatal Testing].

OBJECTIVE: To assess the practical and health economical values of non-invasive prenatal test (NIPT) in Changsha Municipal Public Welfare Program. METHODS: A retrospective analysis was carried out on 149 165 women undergoing NIPT test from April 9, 2018 to December 31, 2019. For pregnant women with high risks, invasive prenatal diagnosis and follow-up of pregnancy outcome were conducted. The cost-benefit of NIPT for Down syndrome was analyzed. RESULTS: NIPT was carried out for 149 165 pregnant women and succeeded in 148 749 cases (99.72%), for which outcome were available in 148 538 (99.86%). 90% of pregnant women from the region accepted the screening with NIPT. 415 (0.27%) were diagnosed as high risk. Among these, 381 (91.81%) accepted amniocentesis, which led to the diagnosis of 212 cases of trisomy 21 (PPV=85.14%), 41 cases with trisomy 18 (PPV=48.81%) and 10 cases with trisomy 13 (PPV=20.83%). The sensitivity and specificity of NIPT for trisomy 21, trisomy 18 and trisomy 13 were (97.70%, 99.98%), (97.62%, 9.97%) and (100%, 99.97%), respectively. In addition, 213 and 30 cases were diagnosed with sex chromosomal aneuploidies (PPV=46.2%) and other autosomal anomalies (PPV=16.57%), respectively. For Down syndrome screening, the cost and benefit of the project was 120.79 million yuan and 1,056.95 million yuan, respectively. The cost-benefit ratio was 1: 8.75, and safety index was 0.0035. CONCLUSION: NIPT is a highly accurate screening test for trisomy 21, which was followed by trisomy 18 and sex chromosomal aneuploidies, while it was less accurate for other autosomal aneuploidies. The application of NIPT screening has a high health economical value.

Acupuncture combined with TCM bonesetting in the treatment of distal radius fractures: A protocol for systematic review and meta-analysis.

BACKGROUND: Acupuncture combined with traditional Chinese medicine (TCM) bonesetting is an effective and more acceptable treatment method for distal radius fractures; this study aims to evaluate the clinical efficacy and other relevant factors of it compared with western medicine therapy such as operation. METHODS: Databases CNKI, Wanfang, VIP, SinoMed, and PubMed were searched for the current study. The retrieval time was from the establishment to November 14, 2021. Literature quality was evaluated according to the bias risk assessment criteria of Cochrane Collaboration network. RevMan 5.3 and Stata 12.0 were used to perform this research. RESULTS: This study will appraise the effectiveness and advantages of acupuncture combined with TCM bonesetting for distal radius fractures in terms of excellent and good rate, length of stay, hospitalization expenses, complication, and other factors. CONCLUSION: This study provides reliable evidence-based support for the clinical efficacy and advantages of acupuncture combined with TCM bonesetting for distal radius fractures. OSF REGISTRATION DOI: 10.17605/OSF.IO/BUPE8.

How were situations of preventive and curative care expenditure for AIDS and medical burden of patients? Research based on "System of Health Accounts 2011".

BACKGROUND: The problem of AIDS response has not only involved public health, but also had a great impact on the family burden.The objective of this study was to estimate the preventive and curative care expenditure(PCE)for AIDS of Hunan Province in 2017 based on System of Health Accounts 2011(SHA2011)by quantity,financing scheme,health provider,health function,and to analyses the factors affecting patients' medical burden. METHODS: Through stratified multi-stage sampling method, 1336 institutions were surveyed to obtain AIDS prevention and control data, and the official data collected from Health Statistical Yearbook, Health Financial Annual Reports and Government Input Monitoring System were used to estimate the AIDS PCE based on SHA2011. Univariate analyses and ordered logistic regression were used to evaluate the factors affecting the medical burden of AIDS patients. RESULTS: The AIDS PCE of Hunan Province in 2017 was 266.67 million, mainly flowed to hospitals and disease prevention and control institutions. The proportions of curative care expenditure(CCE) and prevention expenditure were 51.39 and 48.61% respectively. Prevention expenditure were mainly used for traditional prevention methods. All prevention expenditure and 88.52% of CCE were borne by public financing scheme. Family health expenditure accounted for 11.12% of CCE, but there were still some people with heavy burden of treatment. Non insurance, co-infection and length of stay are risk factors to the total hospitalization expenses(Totalexp)and the out-of-pocket payments(OOPs)(all p < 0.05,OR > 1). Taking the age group under 30 as the reference, the partial regression coefficient of the age group over 60 was statistically significant (OR (Totalexp) = 1.809, OR (OOPs) = 0.30). CONCLUSION: The financing structure of the PCE for AIDS in Hunan Province was relatively stable and the flow of institutions was reasonable. The functional flow of expenditure embodied the principle of "prevention first". China should incorporate oral PrEP into the national guidelines as soon as possible to improve the allocation efficiency of AIDS prevention resources. Meantime, several measures should be taken to reduce the medical burden of AIDS patients, including expanding the scope of government assistance, adjusting insurance compensation measures, increasing the rate of patients participating in insurance,encouraging commercial insurance to join the AIDS insurance system,and controlling length of stay in hospital.

Research on Current Curative Expenditure among Lung Cancer Patients Based on the "System of Health Accounts 2011": Insights into Influencing Factors.

PURPOSE: To investigate the total current curative expenditure (CCE) of lung cancer in Hunan Province, China under the framework of the System of Health Accounts 2011 (SHA 2011) and explore the effect of insurance status, surgery and length of stay on the hospitalization expenses of patients with lung cancer. METHODS: Through multistage stratified cluster random sampling, a total of 46,214 patients with lung cancer were enrolled from 1,072 medical institutions in Hunan Province in 2016. Under the SHA 2011 framework, the lung cancer CCE was analyzed. The relationships between hospitalization expenditure and the following factors (surgery, type of hospital, insurance status, length of stay, institution level, age and sex) were analyzed using Spearman's correlation analyses, and how these factors influenced hospital expenditure was explored through multiple stepwise regression analysis and structural equation modelling. RESULTS: The CCE for lung cancer patients was 8063.75 million CNY. In total, 96.03% of the CCE for lung cancer occurred in hospitals and 58.88% of the expenditure flowed to general hospitals. The highest expenditures were incurred in the group aged 55-74 y, which accounted for 61.58% of the CCE. Drugs accounted for the greatest share expenditure to lung cancer patients at 34.31% of the CCE. Surgery, insurance status, institution level, sex and hospital type explained 57.5% of the variance in hospital expenses. The hospitalization expenses were related to surgery, insurance status, institution level and sex (rs = 0.033-0.688, p < 0.001). Surgery, insurance status and length of stay had direct effects on hospitalization expenses. Length of stay mediated the relationship between surgery and hospitalization expenses for lung cancer patients. Surgery mediated the relationship between insurance status and hospitalization expenses. All of these variables can explain 45% of the variance in hospitalization expenses. CONCLUSIONS: The CCE of lung cancer is extremely high. The problems related to treatment efficiency and equity are serious for lung cancer patients in China. It is essential to expand health insurance coverage and reduce the curative expenditure of lung cancer.