OBJECTIVES: To summarize the clinical and genetic characteristics of epilepsy with intellectual disability caused by SETD1B gene variants in children. METHODS: A retrospective analysis was conducted on the clinical data of three children with SETD1B gene variants diagnosed and treated at the Department of Pediatric Neurology of Xiangya Hospital of Central South University. Relevant literature was reviewed to summarize the clinical characteristics of this condition. RESULTS: All three children presented with symptoms during infancy or early childhood, including mild intellectual disability and myoclonic seizures, with two cases exhibiting eyelid myoclonia. After treatment with three or more antiepileptic drugs, two cases achieved seizure control or partial control, while one case remained refractory. Each of the three children was found to have a heterozygous variant in the SETD1B gene (one deletion, one frameshift, and one missense variant). To date, 54 cases with SETD1B gene variants have been reported, involving a total of 56 variants, predominantly missense variants (64%, 36/56). The main clinical manifestations included varying degrees of developmental delay (96%, 52/54) and seizures (81%, 44/54). Among the 44 patients with seizures, myoclonic (20%, 9/44) and absence seizures (34%, 15/44) were common, with eyelid myoclonia reported in six cases. Approximately one-fifth of these patients had poorly controlled seizures. CONCLUSIONS The primary phenotypes associated with SETD1B gene variants are intellectual disability and seizures, and seizures exhibit distinct characteristics. Eyelid myoclonia is not uncommon.
Humans ; Intellectual Disability/complications* ; Epilepsy/complications* ; Male ; Female ; Histone-Lysine N-Methyltransferase/genetics* ; Child, Preschool ; Child ; Retrospective Studies

OBJECTIVE: To investigate the clinical effect of transposition of gracilis muscle flap in repairing urethral perineal fistula after Miles operation. METHODS: The clinical data of 3 patients with urethral perineal fistula treated in the Second Affiliated Hospital of Zhejiang University from September 2023 to November 2024 were analyzed retrospectively. All patients were male, aged from 59 to 68 years (mean 63 years). All patients underwent Miles operation because of low rectal cancer. Urethral perineal fistula occurred after 2 months to 13 years of the operation. The underlying comorbidities included diabetes (2/3), preoperative chemoradiotherapy (1/3), and chemotherapy alone (1/3). The endourethral fistula was located in the apical and membranous part of the prostate, with a diameter of 1.5-2.0 cm and a mean of 1.7 cm. Suprapubic cystostomy was performed one month before operation. In all 3 cases, perineal inverted "Y" incision was taken under general anesthesia to expose urethral fistula, cut off necrotic tissue and suture urethral fistula. The gracilis muscle of the right thigh was taken and turned through the perineal subcutaneous tunnel. and 6 stitches were suture at the urethral fistula. RESULTS: The operations of all 3 patients were completed successfully. The follow-up period ranged from 2 months to 12 months, with an average of 8 months. There was no case of urinary incontinence after removal of catheter 3 weeks after operation. In two patients, urethrography was reviewed 1 month after surgery to show no fistula residue and urethral stenosis, and the fistula was removed. In one patient with a history of radiotherapy, urethrography was reviewed 1 month after surgery to show a small amount of contrast overflow around the urethra, and urethrography was reviewed again 3 months after surgery to show no contrast overflow around the urethra. All the 3 patients had no disturbance of movement of the right lower limb, and the pain of different degrees of thigh incision was acceptable and basically relieved half a month after operation. CONCLUSION Gracilis muscle flap is one of the effective methods for repairing urethral perineal fistula after Miles operation，which has a precise surgical result and few complications.
Humans ; Male ; Middle Aged ; Aged ; Gracilis Muscle/transplantation* ; Urinary Fistula/surgery* ; Retrospective Studies ; Surgical Flaps ; Perineum/surgery* ; Rectal Neoplasms/surgery* ; Postoperative Complications/surgery* ; Urethral Diseases/surgery* ; Urethra/surgery*

OBJECTIVE: To study the clinical features and recurrence factors of myelin oligodendrocyte glycoprotein (MOG) antibody disease in children and the effect of recurrence prevention regimens. METHODS: A retrospective analysis was performed on the medical data of 41 children with MOG antibody disease who were hospitalized in the Department of Pediatric Neurology, Xiangya Hospital of Central South University, from December 2014 to September 2020. According to the presence or absence of recurrence, they were divided into a monophasic course group ( RESULTS: For these 41 children, acute disseminated encephalomyelitis was the most common initial manifestation and was observed in 23 children (56%). Of the 41 children, 22 (54%) experienced recurrence, with 57 recurrence events in total, among which optic neuritis was the most common event (17/57, 30%). The proportion of children in the recurrence group who were treated with corticosteroids for less than 3 months in the acute phase was higher than that in the monophasic course group (64% CONCLUSIONS More than half of the children with MOG antibody disease may experience recurrence. Most children with recurrence are treated with corticosteroids for less than 3 months in the acute phase. Rituximab and azathioprine may reduce the risk of recurrence.
Autoantibodies ; Child ; Humans ; Myelin-Oligodendrocyte Glycoprotein ; Optic Neuritis ; Recurrence ; Retrospective Studies

Objectives: To understand the status of studies about influenza economic burden in mainland China and summarize their major results. Methods: The words of influenza, flu, cost, economic, burden, effectiveness, benefit, utility, China, and Chinese, were used as search keywords. Journal papers published during 2000-2018 were searched from Chinese electronic databases (CNKI and Wanfang) and English electronic databases (PubMed, Web of science, EconLit and Cochrane Library). The language of literature was restricted to Chinese and English. A total of 23 effective documents were included, and the descriptive characteristics, research indexes and methods included in the literature were analyzed. The monetary unit used in this review is Chinese Yuan (CNY). Results: The 23 study sites were mainly in the relatively developed and populous regions. The total cost per capita of laboratory-confirmed influenza,of all age-group was reported in 6 literatures, and only 4 literatures reported it in out-patients (range: 768.0-999.9 CNY), Only one study reported this indicator in inpatients (9 832.0 CNY). One literature reported the total cost per capita of influenza-like illness,, which was 205.1 CNY. And one literature reported that the direct medical cost of inpatients per capita in children under 5 years of age was 6 072.0 CNY while two literature reported this index for the elderly over 60 years of age, ranging from 14 250.0 to 19 349.1 CNY. Four articles reported the economic burden of influenza in urban and rural areas, one of which showed that the related expenses of urban influenza inpatients accounted for 31% of the average annual income, while which for the rural flow was 113%. Conclusion The average economic burden of lab-confirmed influenza case is higher than that of influenza-like illness, and there are differences in outpatient indirect expenses and inpatients direct medical expenses. The direct medical burden for the hospitalized 60-years-and-beyond influenza case group is heavier thar other age group. By region, the influenza associated individual economic burden in rural area is higher than that of urban area..

Objective: To systematically review the mortality burden study of influenza in mainland China. Method: "influenza", "flu", "H1N1", "pandemic", "mortality", "death", "fatality", "burden", "China" and "Chinese" were used as keywords, and a systematic literature search was conducted to identify articles in three English databases (PubMed, Web of Science and Embase) and three Chinese database (CNKI, WanFang and VIP) during 1990-2018 (excluding Hong Kong, Macao and Taiwan). The language of literature was restricted to Chinese and English. The inclusion criteria were human-oriented researches with method based on population, and research indexes included mortality and excess mortality. The exclusion criteria were non-primary research materials, predictive research and research on the burden of avian influenza related deaths. A total of 17 literatures were included, and the basic information to descriptive characteristics, methodology of modeling and the corresponding results were extracted. Results: All the 17 studies adopted indirect statistical models, with 14 of which adopted the regression model, and all the research index was excess mortality. All causes (16 studies), respiratory and circulatory diseases (14 studies) and pneumonia and influenza (10 studies) were the main causes of death associated with influenza. Influenza associated mortality burden in the elderly was higher, with the lowest excess mortality rates of all causes, respiratory and circulatory diseases, pneumonia and influenza being 49.57, 30.80 and 0.69 per 100 000 people, and the highest rates being 228.16, 170.20 and 30.35 per 100 000 people, respectively. In the non-elderly, the corresponding lowest rates were -0.27, -0.08 and 0.04 per 100 000 people respectively, and the highest rates were 3.63, 2.6 and 0.91 per 100 000 people, respectively. The influenza-related excess mortality was higher in the north, with a minimum of 7.8 per 100 000 and a maximum of 18.0 per 100 000, and slightly lower in the south, with a minimum of 6.11 per 100 000 and a maximum of 18.7 per 100 000. There were also differences in deaths caused by different influenza virus subtypes, with influenza A(H3N2) and influenza B virus possibly posing a heavier mortality burden. Conclusions Studies on influenza mortality burden is mainly based on indirect model and urban level in China. The mortality burden of influenza in the elderly, the northern and subtype A(H3N2) and B were more severe.

Objectives To understand the status of studies about influenza economic burden in mainland China and summarize their major results. Methods The words of influenza, flu, cost, economic, burden, effectiveness, benefit, utility, China, and Chinese, were used as search keywords. Journal papers published during 2000-2018 were searched from Chinese electronic databases (CNKI and Wanfang) and English electronic databases (PubMed, Web of science, EconLit and Cochrane Library). The language of literature was restricted to Chinese and English. A total of 23 effective documents were included, and the descriptive characteristics, research indexes and methods included in the literature were analyzed. The monetary unit used in this review is Chinese Yuan (CNY). Results The 23 study sites were mainly in the relatively developed and populous regions. The total cost per capita of laboratory?confirmed influenza,of all age?group was reported in 6 literatures, and only 4 literatures reported it in out?patients (range: 768.0-999.9 CNY), Only one study reported this indicator in inpatients (9 832.0 CNY). One literature reported the total cost per capita of influenza?like illness,, which was 205.1 CNY. And one literature reported that the direct medical cost of inpatients per capita in children under 5 years of age was 6 072.0 CNY while two literature reported this index for the elderly over 60 years of age, ranging from 14 250.0 to 19 349.1 CNY. Four articles reported the economic burden of influenza in urban and rural areas, one of which showed that the related expenses of urban influenza inpatients accounted for 31% of the average annual income, while which for the rural flow was 113%. Conclusion The average economic burden of lab?confirmed influenza case is higher than that of influenza?like illness, and there are differences in outpatient indirect expenses and inpatients direct medical expenses. The direct medical burden for the hospitalized 60?years?and?beyond influenza case group is heavier thar other age group. By region, the influenza associated individual economic burden in rural area is higher than that of urban area..

Objective To systematically review the mortality burden study of influenza in mainland China. Method "influenza","flu","H1N1","pandemic","mortality","death","fatality","burden","China" and"Chinese" were used as keywords, and a systematic literature search was conducted to identify articles in three English databases (PubMed, Web of Science and Embase) and three Chinese database (CNKI, WanFang and VIP) during 1990-2018 (excluding Hong Kong, Macao and Taiwan). The language of literature was restricted to Chinese and English. The inclusion criteria were human?oriented researches with method based on population, and research indexes included mortality and excess mortality. The exclusion criteria were non?primary research materials, predictive research and research on the burden of avian influenza related deaths. A total of 17 literatures were included, and the basic information to descriptive characteristics, methodology of modeling and the corresponding results were extracted. Results All the 17 studies adopted indirect statistical models, with 14 of which adopted the regression model, and all the research index was excess mortality. All causes (16 studies), respiratory and circulatory diseases (14 studies) and pneumonia and influenza (10 studies) were the main causes of death associated with influenza. Influenza associated mortality burden in the elderly was higher, with the lowest excess mortality rates of all causes, respiratory and circulatory diseases, pneumonia and influenza being 49.57, 30.80 and 0.69 per 100 000 people, and the highest rates being 228.16, 170.20 and 30.35 per 100 000 people, respectively. In the non?elderly, the corresponding lowest rates were-0.27,-0.08 and 0.04 per 100 000 people respectively, and the highest rates were 3.63, 2.6 and 0.91 per 100 000 people, respectively. The influenza?related excess mortality was higher in the north, with a minimum of 7.8 per 100 000 and a maximum of 18.0 per 100 000, and slightly lower in the south, with a minimum of 6.11 per 100 000 and a maximum of 18.7 per 100 000. There were also differences in deaths caused by different influenza virus subtypes, with influenza A(H3N2) and influenza B virus possibly posing a heavier mortality burden. Conclusions Studies on influenza mortality burden is mainly based on indirect model and urban level in China. The mortality burden of influenza in the elderly,the northern and subtype A(H3N2) and B were more severe.

Objectives To understand the status of studies about influenza economic burden in mainland China and summarize their major results. Methods The words of influenza, flu, cost, economic, burden, effectiveness, benefit, utility, China, and Chinese, were used as search keywords. Journal papers published during 2000-2018 were searched from Chinese electronic databases (CNKI and Wanfang) and English electronic databases (PubMed, Web of science, EconLit and Cochrane Library). The language of literature was restricted to Chinese and English. A total of 23 effective documents were included, and the descriptive characteristics, research indexes and methods included in the literature were analyzed. The monetary unit used in this review is Chinese Yuan (CNY). Results The 23 study sites were mainly in the relatively developed and populous regions. The total cost per capita of laboratory?confirmed influenza,of all age?group was reported in 6 literatures, and only 4 literatures reported it in out?patients (range: 768.0-999.9 CNY), Only one study reported this indicator in inpatients (9 832.0 CNY). One literature reported the total cost per capita of influenza?like illness,, which was 205.1 CNY. And one literature reported that the direct medical cost of inpatients per capita in children under 5 years of age was 6 072.0 CNY while two literature reported this index for the elderly over 60 years of age, ranging from 14 250.0 to 19 349.1 CNY. Four articles reported the economic burden of influenza in urban and rural areas, one of which showed that the related expenses of urban influenza inpatients accounted for 31% of the average annual income, while which for the rural flow was 113%. Conclusion The average economic burden of lab?confirmed influenza case is higher than that of influenza?like illness, and there are differences in outpatient indirect expenses and inpatients direct medical expenses. The direct medical burden for the hospitalized 60?years?and?beyond influenza case group is heavier thar other age group. By region, the influenza associated individual economic burden in rural area is higher than that of urban area..

Objective To systematically review the mortality burden study of influenza in mainland China. Method "influenza","flu","H1N1","pandemic","mortality","death","fatality","burden","China" and"Chinese" were used as keywords, and a systematic literature search was conducted to identify articles in three English databases (PubMed, Web of Science and Embase) and three Chinese database (CNKI, WanFang and VIP) during 1990-2018 (excluding Hong Kong, Macao and Taiwan). The language of literature was restricted to Chinese and English. The inclusion criteria were human?oriented researches with method based on population, and research indexes included mortality and excess mortality. The exclusion criteria were non?primary research materials, predictive research and research on the burden of avian influenza related deaths. A total of 17 literatures were included, and the basic information to descriptive characteristics, methodology of modeling and the corresponding results were extracted. Results All the 17 studies adopted indirect statistical models, with 14 of which adopted the regression model, and all the research index was excess mortality. All causes (16 studies), respiratory and circulatory diseases (14 studies) and pneumonia and influenza (10 studies) were the main causes of death associated with influenza. Influenza associated mortality burden in the elderly was higher, with the lowest excess mortality rates of all causes, respiratory and circulatory diseases, pneumonia and influenza being 49.57, 30.80 and 0.69 per 100 000 people, and the highest rates being 228.16, 170.20 and 30.35 per 100 000 people, respectively. In the non?elderly, the corresponding lowest rates were-0.27,-0.08 and 0.04 per 100 000 people respectively, and the highest rates were 3.63, 2.6 and 0.91 per 100 000 people, respectively. The influenza?related excess mortality was higher in the north, with a minimum of 7.8 per 100 000 and a maximum of 18.0 per 100 000, and slightly lower in the south, with a minimum of 6.11 per 100 000 and a maximum of 18.7 per 100 000. There were also differences in deaths caused by different influenza virus subtypes, with influenza A(H3N2) and influenza B virus possibly posing a heavier mortality burden. Conclusions Studies on influenza mortality burden is mainly based on indirect model and urban level in China. The mortality burden of influenza in the elderly,the northern and subtype A(H3N2) and B were more severe.