Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

Objective:To elucidate the clinical and genetic characteristics of familial cases with Glucose transporter type 1 deficiency syndrome (Glut1DS).Methods:A survey of family history was conducted on children (proband) with Glut1DS who had visited Peking University First Hospital between November 2008 and April 2024 by focusing on the clinical manifestations of family members. Peripheral venous blood (2 mL) was collected from the pediatric patients and their parents. Genomic DNA was extracted and sequenced subsequently. Sanger sequencing was performed to validate the identified variant sites of the SLC2A1 gene in the probands and their family members. The pathogenicity of suspected variants was analyzed according to the 2015 American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants. The clinical features, auxiliary examinations, and mutational characteristics of family members with SLC2A1 variants were analyzed. This study has been approved by the Clinical Research Ethics Committee of Peking University First Hospital (Ethics No. 2021 Research 332). Results:Among 87 cases with Glut1DS, 10 families with autosomal dominate inherited cases were identified, accounting for 11.0% of the cases. Of the 11 children, 8 were boys and 3 were girls. The onset of the disease had ranged from 3 months to 120 months (median 6 months), with 4 cases of early-onset classic type, 2 cases of late-onset classic type, and 5 cases of non-classic type. Six children had seizures, and 7 exhibited movement disorders. Seven children underwent developmental assessment, of which 3 had mild developmental delay, 2 were borderline, and 2 were normal. Nine children underwent lumbar puncture. The cerebrospinal fluid glucose levels ranged from 1.45 to 2.25 mmol/L (median 1.86 mmol/L), and the cerebrospinal fluid to blood glucose ratios ranged from 0.29 to 0.44 (median 0.35). Among the 8 fathers with SLC2A1 gene variants, 4 were asymptomatic, 2 developed paroxysmal exercise-induced movement disorders (PED) in childhood and adulthood, respectively, 1 had poor memory since childhood, 1 developed migraines during adolescence, and his sister was an asymptomatic carrier. The father with childhood-onset PED had a cerebrospinal fluid test with CSF glucose of 1.85 mmol/L. Of the 3 mothers with SLC2A1 gene mutations, 1 was an asymptomatic carrier; 2 developed PED in childhood and after the age of 20 respectively. The mother who developed PED in childhood also had psychomotor developmental delay. Genetic testing results revealed that among 10 families, 8 carried missense variants, 1 carried a nonsense variant, and 1 carried a small fragment insertion leading to a frameshift variant. Among the 11 cases, SLC2A1 gene variants in 8 children were inherited from their fathers, while in 3 cases, the variants were inherited from their mothers. The pathogenicity of the genetic variants was evaluated according to the Standards and Guidelines for the Interpretation of Sequence Variants published by the ACMG. Among the 8 variants identified in the 10 families, 4 were classified as pathogenic variants, 1 as likely pathogenic, and 3 as variants of uncertain significance (VUS). Four variant sites induding, c. 204_205insTCTC (p.V69fs), c. 412G>C (p.G138R), c. 431T>G (p.V144G), and c. 875A>G (p.Y292C), were not previously reported in the literature. Among these, the latter three were categorized as VUS. Conclusion:Familial Glut1DS account for 11.0% of the cases in China, with the majority of SLC2A1 gene variants inherited from the fathers, predominantly missense mutations, and with an autosomal dominant inheritance pattern. Probands tend to have earlier onset and more severe symptoms than their parents, who often present with mild or no symptoms.

OBJECTIVE: To elucidate the clinical and genetic characteristics of familial cases with Glucose transporter type 1 deficiency syndrome (Glut1DS). METHODS: A survey of family history was conducted on children (proband) with Glut1DS who had visited Peking University First Hospital between November 2008 and April 2024 by focusing on the clinical manifestations of family members. Peripheral venous blood (2 mL) was collected from the pediatric patients and their parents. Genomic DNA was extracted and sequenced subsequently. Sanger sequencing was performed to validate the identified variant sites of the SLC2A1 gene in the probands and their family members. The pathogenicity of suspected variants was analyzed according to the 2015 American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants. The clinical features, auxiliary examinations, and mutational characteristics of family members with SLC2A1 variants were analyzed. This study has been approved by the Clinical Research Ethics Committee of Peking University First Hospital (Ethics No. 2021 Research 332). RESULTS: Among 87 cases with Glut1DS, 10 families with autosomal dominate inherited cases were identified, accounting for 11.0% of the cases. Of the 11 children, 8 were boys and 3 were girls. The onset of the disease had ranged from 3 months to 120 months (median 6 months), with 4 cases of early-onset classic type, 2 cases of late-onset classic type, and 5 cases of non-classic type. Six children had seizures, and 7 exhibited movement disorders. Seven children underwent developmental assessment, of which 3 had mild developmental delay, 2 were borderline, and 2 were normal. Nine children underwent lumbar puncture. The cerebrospinal fluid glucose levels ranged from 1.45 to 2.25 mmol/L (median 1.86 mmol/L), and the cerebrospinal fluid to blood glucose ratios ranged from 0.29 to 0.44 (median 0.35). Among the 8 fathers with SLC2A1 gene variants, 4 were asymptomatic, 2 developed paroxysmal exercise-induced movement disorders (PED) in childhood and adulthood, respectively. 1 had poor memory since childhood, 1 developed migraines during adolescence, and his sister was an asymptomatic carrier. The father with childhood-onset PED had a cerebrospinal fluid test with CSF glucose of 1.85 mmol/L. Of the 3 mothers with SLC2A1 gene mutations, 1 was an asymptomatic carrier; 2 developed PED in childhood and after the age of 20, respectively. The mother who developed PED in childhood also had psychomotor developmental delay. Genetic testing results revealed that among 10 families, 8 carried missense variants, 1 carried a nonsense variant, and 1 carried a small fragment insertion leading to a frameshift variant. Among the 11 cases, SLC2A1 gene variants in 8 children were inherited from their fathers, while in 3 cases, the variants were inherited from their mothers. The pathogenicity of the genetic variants was evaluated according to the Standards and Guidelines for the Interpretation of Sequence Variants published by the ACMG. Among the 8 variants identified in the 10 families, 4 were classified as pathogenic variants, 1 as likely pathogenic, and 3 as variants of uncertain significance (VUS). Four variant sites, including c.204_205insTCTC (p.V69fs), c.412G>C (p.G138R), c.431T>G (p.V144G), and c.875A>G (p.Y292C), were not previously reported in the literature. Among these, the latter three were categorized as VUS. CONCLUSION Familial Glut1DS account for 11.0% of the cases in China, with the majority of SLC2A1 gene variants inherited from the fathers, predominantly missense mutations, and with an autosomal dominant inheritance pattern. Probands tend to have earlier onset and more severe symptoms than their parents, who often present with mild or no symptoms.
Humans ; Male ; Female ; Glucose Transporter Type 1/deficiency* ; Monosaccharide Transport Proteins/deficiency* ; Child ; Child, Preschool ; Carbohydrate Metabolism, Inborn Errors/genetics* ; Mutation ; Infant ; Pedigree ; Adolescent ; Adult

Objective:To elucidate the clinical and genetic characteristics of familial cases with Glucose transporter type 1 deficiency syndrome (Glut1DS).Methods:A survey of family history was conducted on children (proband) with Glut1DS who had visited Peking University First Hospital between November 2008 and April 2024 by focusing on the clinical manifestations of family members. Peripheral venous blood (2 mL) was collected from the pediatric patients and their parents. Genomic DNA was extracted and sequenced subsequently. Sanger sequencing was performed to validate the identified variant sites of the SLC2A1 gene in the probands and their family members. The pathogenicity of suspected variants was analyzed according to the 2015 American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants. The clinical features, auxiliary examinations, and mutational characteristics of family members with SLC2A1 variants were analyzed. This study has been approved by the Clinical Research Ethics Committee of Peking University First Hospital (Ethics No. 2021 Research 332). Results:Among 87 cases with Glut1DS, 10 families with autosomal dominate inherited cases were identified, accounting for 11.0% of the cases. Of the 11 children, 8 were boys and 3 were girls. The onset of the disease had ranged from 3 months to 120 months (median 6 months), with 4 cases of early-onset classic type, 2 cases of late-onset classic type, and 5 cases of non-classic type. Six children had seizures, and 7 exhibited movement disorders. Seven children underwent developmental assessment, of which 3 had mild developmental delay, 2 were borderline, and 2 were normal. Nine children underwent lumbar puncture. The cerebrospinal fluid glucose levels ranged from 1.45 to 2.25 mmol/L (median 1.86 mmol/L), and the cerebrospinal fluid to blood glucose ratios ranged from 0.29 to 0.44 (median 0.35). Among the 8 fathers with SLC2A1 gene variants, 4 were asymptomatic, 2 developed paroxysmal exercise-induced movement disorders (PED) in childhood and adulthood, respectively, 1 had poor memory since childhood, 1 developed migraines during adolescence, and his sister was an asymptomatic carrier. The father with childhood-onset PED had a cerebrospinal fluid test with CSF glucose of 1.85 mmol/L. Of the 3 mothers with SLC2A1 gene mutations, 1 was an asymptomatic carrier; 2 developed PED in childhood and after the age of 20 respectively. The mother who developed PED in childhood also had psychomotor developmental delay. Genetic testing results revealed that among 10 families, 8 carried missense variants, 1 carried a nonsense variant, and 1 carried a small fragment insertion leading to a frameshift variant. Among the 11 cases, SLC2A1 gene variants in 8 children were inherited from their fathers, while in 3 cases, the variants were inherited from their mothers. The pathogenicity of the genetic variants was evaluated according to the Standards and Guidelines for the Interpretation of Sequence Variants published by the ACMG. Among the 8 variants identified in the 10 families, 4 were classified as pathogenic variants, 1 as likely pathogenic, and 3 as variants of uncertain significance (VUS). Four variant sites induding, c. 204_205insTCTC (p.V69fs), c. 412G>C (p.G138R), c. 431T>G (p.V144G), and c. 875A>G (p.Y292C), were not previously reported in the literature. Among these, the latter three were categorized as VUS. Conclusion:Familial Glut1DS account for 11.0% of the cases in China, with the majority of SLC2A1 gene variants inherited from the fathers, predominantly missense mutations, and with an autosomal dominant inheritance pattern. Probands tend to have earlier onset and more severe symptoms than their parents, who often present with mild or no symptoms.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

Objective:To evaluate the efficacy and safety of rituximab in pediatric myasthenia gravis (MG).Methods:Case series study. The clinical manifestations, laboratory tests, treatment plans and prognosis of 27 pediatric MG patients treated with rituximab from June 2013 to June 2023 at Children′s Medical Center of Peking University First Hospital were retrospectively collected.Results:There were 5 males and 22 females in 27 MG children. The onset age was 2.1 (1.6, 4.8) years, ranging from 8 months to 11 years. The clinical classification included 20 children (74%) of ocular MG and 7 children (26%) of generalized MG. Seventeen children (63%) had positive MG-related pathogenic antibodies, including 17 children of anti-AchR antibody and 1 of them also had anti-MuSK antibody. Rituximab was used as first-line immunosuppressant in 13 children, second-line immunosuppressant in 13 children and third-line immunosuppressant in 1 child. Immunosuppressants used before rituximab including 8 children of cyclosporine, 3 children of tacrolimus, 1 child of azathioprine, 1 child of mycophenolate mofetil and 1 child of cyclosporine combined with azathioprine. Rituximab was used for at least half a year with a follow-up period of more than 12 months. At the last follow-up after rituximab treatment, all children achieved improved or above, 14 children (52%) achieved complete stable remission, 7 children (26%) achieved pharmacologic remission, 1 child (4%) achieved minimal manifestations, and 5 children (18%) improved. After rituximab treatment, 27 children all could reduce the immunomodulation therapy and shorten the course of glucocorticoid therapy, and 22 children (81%) had stopped the glucocorticoid therapy. Among the 14 children with poor efficacy of other immunosuppressants, rituximab had complete stable remission of 7 children. The most common adverse reaction was respiratory infection (4 children (15%)). Only 2 children had allergic reaction to rituximab and got better after symptomatic treatment.Conclusions:Rituximab has good efficacy and tolerance in pediatric MG. Early application of rituximab can improve the prognosis and shorten the course of glucocorticoid treatment.

Objective:To analyze the clinical symptoms and epidemiological characteristics of patients with tsutsugamushi disease (TD) in Utica County, Shiyan City, providing reference for scientific prevention and control of TD.Methods:The information of 57 TD patients admitted to the Department of Infectious Diseases of the People's Hospital of Utica County in Shiyan City from January to December 2022 was collected, including age, gender, occupation, clinical manifestations (tarsus or chigger, high fever, rash and accompanying syndromes), laboratory and imaging test results, and field work and travel history. Blood samples and body crusts were collected, and enzyme-linked immunosorbent assay (ELISA) and polymerase chain reaction (PCR) were used to detect antibodies against Orientia tsugamushi (Ot-Ab-IgM) and Orientia tsutsugamushi (Ot). The scores of each patient were calculated using the TD Diagnostic Scale. A score of ≥8.5 was considered a clinical diagnosis of TD. According to the number of system functional damages (0, 1, 2, ≥3), 57 patients were divided into 4 groups, A, B, C, and D, TD was analyzed for system functional damages of each system.Results:Among the 57 TD patients, 26 (45.61%) were male and 31 (54.39%) were female, and the proportion of patients aged 40 - 79 years was 92.98% (53/57); farmers accounted for 89.47% (51/57). May was the peak of TD incidence, with 19 cases, which accounted for 33.33% (19/57) of the total number of patients affected that year. Fifty-four patients had a history of fieldwork or field trips before the onset of the disease. The incidence of high fever in 57 TD patients was 100.00%(57/57), the detection rate of body scorch or chiggers was 80.70% (46/57), and the incidence rate of rash was 98.25% (56/57); the incidence rate of tsutsugamushi disease triad (accompanied by scabs, high fever, and rash) was 80.70% (46/57); the incidence of eosinophil decline was 100.00%(57/57), and 77.19% (44/57) of TD patients experienced multiple-system functional damage (MSFD). The TD score diagnostic scale for 57 patients ranged from 8.5 to 10.5 points. After being hospitalized for 1 - 5 days, all TD patients experienced a decrease in body temperature to the normal range, and the damage to various systems functional gradually recovered.Conclusions:TD has become one of the most common natural infectious diseases in Utopia County, Shiyan City, Hubei Province. The patients are mainly middle-aged and elderly people, and the triple syndrome is a typical clinical manifestation. Asymptomatic injuries to the blood system, liver and kidneys are the most common.

Objective:To investigate the correlation between miR-137 gene polymorphism and genetic susceptibility to gestational diabetes mellitus.Methods:A total of 500 pregnant women with gestational diabetes who were admitted to Shunde Women and Childrens Hospital of Guangdong Medical University from January 2023 to September 2023 were selected as the observation group, and 500 healthy pregnant women with normal glucose metabolism and no pregnancy complications were selected as the control group. Polymerase chain reaction (PCR) was used to detect rs1625579 polymorphisms of miR-137 gene between the two groups, and the clinical data of the two groups were compared to analyze the influencing factors of the occurrence of gestational diabetes mellitus.Results:The frequencies of GT+ GG genotype and allele G at rs1625579 site of miR-137 gene in observation group were 13.20% and 7.00%, respectively, which were significantly higher than those in control group (all P<0.05). Fasting blood glucose (FPG), fasting insulin (FINS) and insulin resistance index (HOMA-IR) of miR-137 genotype GT+ GG pregnant women in the observation group were (7.92±0.81)mmol/L, (19.92±3.10)mmol/L and 6.60±1.02, respectively. It was significantly higher than genotypic TT pregnant women (all P<0.05), and islet β cell function index (HOMA-β) was significantly lower than genotypic TT pregnant women (188.84±43.34) ( P<0.05). Pre-pregnancy body mass index (BMI) and average weekly weight gain during pregnancy in the observation group were (23.81±1.92)kg/m 2 and (445.50±35.65)g, respectively, which were significantly higher than those in the control group (all P<0.05). The proportion of family history of diabetes in the observation group was 8.60%, which was significantly higher than that in the control group ( P<0.05). Logistic regression analysis showed that preconception BMI and average weekly weight gain during pregnancy were the influential factors for the occurrence of gestational diabetes (all P<0.05). Conclusions:The occurrence of gestational diabetes mellitus has no significant correlation with miR-137 gene polymorphism, but is related to pre-pregnancy BMI and average weekly weight gain during pregnancy. Compared with other miR-137 genotypes, GT+ GG patients were more likely to develop abnormal blood glucose.

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

Background Front-line power grid workers are required to face a variety of occupational hazards (such as aerial work), which make them susceptible to psychological problems and further reduce their performance efficiency and safety level. Objective To investigate the mental health status of front-line power grid workers and explore the influence of personality traits on mental health and the potential mediating role of work-family support between them. Methods This study was designed as a cross-sectional study. From January to June 2019, a cluster random sampling method was used to select two of the 20 power supply stations owned by a Guangdong power company. A total of 485 front-line power grid workers were included in the study. Sociodemographic characteristics were investigated, and NEO Five-Factor Inventory, Work-Family Support Scale, and Symptom Checklist 90 (SCL-90) were used in the survey. Spearman correlation analysis was conducted to analyze the correlations between measured variables. Structural equation modeling was used to analyze the relationships of personality traits, work-family support, and mental health, and Bootstrap analysis was used to test the mediating effect of work-family support on the relationship of personality traits and mental health. Results The M (P₂₅, P₇₅) of total SCL-90 score was 134.00 (110.00, 167.00）, and 139 (28.66%) front-line power grid workers showed positive mental health symptoms. The correlation analysis indicated that among the front-line power grid workers, neuroticism score was negatively correlated with work-family support total score (r_s=−0.356, P<0.001), and positively correlated with the total score of SCL-90 (r_s=0.557, P<0.001) as well as all the scores of its sub-dimensions (r_s=0.436-0.550, P<0.001). Openness score was positively correlated with work-family support total score (r_s=0.269, P<0.001), and except for paranoid ideation (P>0.05), openness score was negatively correlated with the scores of all the other sub-dimensions of SCL-90 (r_s=−0.091-−0.147, P<0.05). The scores of the other three personality traits (extroversion, agreeableness, and conscientiousness) were positively correlated with work-family support total score (r_s=0.331-0.466, P<0.001), and negatively correlated with the total score of SCL-90 as well as the scores of all its sub-dimensions (P<0.001). The modified structural equation modeling indicated that the direct effect of work-family support on mental health symptoms was −0.225 (P<0.001). The direct effects of extraversion and openness on work-family support were 0.241 (P<0.001) and 0.123 (P<0.05), respectively, while the effect on mental health symptoms was not statistically significant. The direct effects of neuroticism on work-family support and mental health symptoms were -0.152 (P<0.01) and 0.467 (P<0.001), respectively. The direct effects of conscientiousness on work-family support and mental health symptoms were not statistically significant (P>0.05). The direct effect of agreeableness on work-family support was not statistically significant (P>0.05), while the direct effect on mental health symptoms was −0.180 (P<0.001). Conclusion The front-line power grid workers show a high score of SCL-90. Workers with higher neuroticism are more vulnerable to mental health symptoms. Work-family support fully mediates the effects of extraversion and openness on mental health symptoms, and partially mediates the effects of neuroticism on mental health symptoms, while does not mediate the effects of agreeableness on mental health symptoms. Sufficient work-family support may improve mental health status.