Objective To explore the relationship between G-protein β3 subunit (GNB3) gene C825T polymor?phism and the weight gain of schizophrenics treated with olanzapine. Methods Ninety schizophrenics of first time hospi?talization were collected and treated with olanzapine for 12 weeks. The changes of body weight and body mass index (BMI) were detected before and after 12-week olanzapine treatment. The GNB3 gene C825T polymorphism in patients was determined by polymerase chain reaction (PCR) and DNA sequencing technique. The correlation of GNB3 gene C825T polymorphism and change of clinical parameters was analyzed. Results Body weight and BMI in patients were all increased significantly after treatment (all P<0.01). Weight gain rate (WGR) and increase of BMI in the TT genotype group were higher than those in the CC genotype group (all P<0.01). WGR and increase of BMI in the T-allele carrier (TT and CT genotypes) were higher than those in the T-allele non-carrier (CC genotype) (all P<0.01). There was signifi?cant difference in distribution of genotypes between WGR ≥7% group (CC 15.69%, CT 54.90%, TT 29.41%) and WGR <7% group (CC 38.46%, CT 43.59%, TT 17.95%) (P<0.05). The frequency of T-allele in the WGR≥7% group (63.33%) was higher than that in the WGR<7%group (39.74%) (P<0.05). Multi-variable linear regression indicated that TT genotype (contrasted with CC genotype) was an influential factor for change of body weight after treatment with olan?zapine (β=1.83, standardized β=0.29, P<0.01). Conclusions The GNB3 gene C825T polymorphism is associated with olanzapine-induced weight gain.

Background::The incidence and mortality of colorectal cancer (CRC) in China are increasing in recent years. The clarified pathogenesis and detectable precancerous lesions of CRC make it possible to prevent, screen, and diagnose CRC at an early stage. With the development of endoscopic and surgical techniques, the choice of treatment for early CRC is also worth further discussion, and accordingly, a standard follow-up program after treatment needs to be established.Methods::This clinical practice guideline (CPG) was developed following the recommended process of the World Health Organization, adopting Grading of Recommendations Assessment, Development and Evaluation (GRADE) in assessing evidence quality, and using the Evidence to Decision framework to formulate clinical recommendations, thereby minimizing bias and increasing transparency of the CPG development process. We used the Reporting Items for practice Guidelines in HealThcare (RIGHT) statement and Appraisal of Guidelines for Research and Evaluation II (AGREE II) as reporting and conduct guides to ensure the guideline’s completeness and transparency.Results::This CPG comprises 46 recommendations concerning prevention, screening, diagnosis, treatment, and surveillance of CRC. In these recommendations, we have indicated protective and risk factors for CRC and made recommendations for chemoprevention. We proposed a suitable screening program for CRC based on the Chinese context. We also provided normative statements for the diagnosis, treatment, and surveillance of CRC based on existing clinical evidence and guidelines.Conclusions::The 46 recommendations in this CPG are formed with consideration for stakeholders’ values and preferences, feasibility, and acceptability. Recommendations are generalizable to resource-limited settings with similar CRC epidemiology pattern as China.

BACKGROUND:Sarcopenia refers to age-related progressive,systemic muscle mass reduction and/or muscle strength decline or muscle physiological function decline,which is related to the occurrence of a variety of adverse outcomes in older adults.Exercise is considered to be one of the main strategies for combating sarcopenia in older adults,but there is a lack of specific intervention methods of different exercise patterns to intervene in sarcopenia. OBJECTIVE:To elaborate the main influencing factors of sarcopenia and the research progress of different exercise methods to improve sarcopenia in older adults,providing reference and basis for combating sarcopenia in older adults. METHODS:Web of Science,PubMed,CNKI,VIP,WanFang databases were retrieved for relevant literature published from January 2000 to October 2023 using the keywords of"sarcopenia,sport,exercise intervention,resistant training,aerobic exercise,whole body vibration training,mixed training,physical performance,muscle strength,muscle mass"in Chinese and English,respectively.A total of 126 articles were included for review. RESULTS AND CONCLUSION:Resistance exercise is still the most effective way to prevent and treat senile sarcopenia,and the effect of high-intensity resistance exercise is more significant.However,in practical application,we should pay attention to the gradual increase of training load intensity.Aerobic exercise combined with resistance exercise is more effective to improve muscle mass and function in the elderly than a single exercise mode.It is suggested that older adults can carry out the transition of low-intensity aerobic exercise in the early stage and increase resistance exercise individually in the late stage.Whole body vibration training is a new treatment method for the prevention and treatment of senile sarcopenia,but particular attention should be paid to the effects of frequency,amplitude,and duration on patients during practical application.Multicomponent exercise combines different exercise modes,which can give full play to their respective advantages,so as to personalize exercise interventions.

OBJECTIVE To identify potential mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). METHODS The SLC25A13 gene was analyzed by next-generation sequencing. Suspected mutations were confirmed by PCR and Sanger sequencing in the probands and their parents. Impact of novel mutations was predicted with PolyPhen-2 software. RESULTS All neonates have harbored mutations of the SLC25A13 gene. Eight mutations were discovered, which included two novel mutations (c.1357A>G and c.1663dup23). All parents were found to be carriers of the mutations. CONCLUSION Mutations of the SLC25A13 gene probably underlie the NICCD among the five patients, among which 851del4 and 1638-1660dup were the most common ones. This has enriched the spectrum of SLC25A13 mutation in association with NICCD.

Objective:To compare the diagnostic efficiency of colloidal gold dipstick method (PTH dipstick method) with that of doctors’ experience method based on nano-carbon method for rapid identification of parathyroid gland in thyroidectomy of thyroid cancer.Methods:From March to July 2020, 90 patients underwent thyroid surgery in the Friendship Hospital, Capital Medical University participated in the experimental study, and 155 samples underwent empirical judgment, parathyroid dipstick and pathological examination. All operations were performed by senior specialists. SPSS statistics 17.0 software was used for statistical analysis.Results:Seventy-four cases of parathyroid gland confirmed by both pathology and empirical judgment, and 81 cases of non-parathyroid gland confirmed by pathology; 130 cases of parathyroid glands confirmed by both PTH dipstick method and pathology, and 22 cases of non-parathyroid glands confirmed by pathology. The accuracy rate of PTH dipstick method was 85.53% which was much higher than that of empirical judgment method (47.74%). The data were statistically significant ( χ2=49.14, P<0.05). The sensitivity of PTH method was 95.89%, the specificity of PTH method was 75.94%, and the Youden index was 0.7183. The sensitivity of empirical judgment method was 81.3%, the specificity of empirical judgment method was 47.74%, and the Youden index was 0.2904. Conclusions:The diagnostic efficiency of the PTH method is higher than that of empirical judgment method to identify parathyroid gland in thyroid surgery. The two methods can be used together to increase the protection of parathyroid gland during operation.

OBJECTIVE: To analyze the clinical and genetic characteristics of a boy featuring unexplained developmental delay, malnutrition and distinct facial appearance. METHODS: Physical examination was carried out for the child. Peripheral blood samples were collected from the child and his parents for the extraction of genomic DNA and trio-whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: The patient had facial dysmorphism including nasal alae aplasia, scalp defect and teeth deformities, in addition with recurrent diarrhea due to pancreatic exocrine insufficiency. DNA sequencing revealed that he has harbored compound heterozygous variants of the UBR1 gene, namely c.3167C>G (p.S1056X) and c.1911+14C>G, which were inherited from his father and mother, respectively. Database search has suggested the c.3167C>G to be a novel nonsense variant and c.1911+14C>G a known splicing variant. Based on the guidelines of the American College of Medical Genetics and Genomics, the two variants were predicted to be pathogenic and likely pathogenic, respectively. CONCLUSION The child was diagnosed with Johanson-Blizzard syndrome due to the compound heterozygous variants of the UBR1 gene. Above finding has enriched the mutational spectrum of the UBR1 gene and provided a basis for genetic counseling for this family.
Child ; Humans ; Male ; Ectodermal Dysplasia/genetics* ; Pancreatic Diseases/genetics* ; Ubiquitin-Protein Ligases/genetics*

Medical ethics has a long history and rich connotations.It has developed from the simple "medical morality" of ancient times to the modem medical ethics.The basic principles of medical ethics include autonomy,non-maleficence,beneficence,justice,and so on.Researchers often conduct clinical researches in the balance between achievements and ethical norms.Clinical researchers of surgery should have a deep understanding of medical ethical principles and strictly abide by medical ethics.Ethics committee should strictly perform their duties and play the role of inspection and supervision.Modem medical knowledges should be popularized throughout the society to make clinical research correctly understood.Adhering principles of ethics first,people orientation and cooperation practice,with patients' benefit as evaluation criteria,balance of surgical "Dao" and "Shu" can be achieved.

Objective:To investigate the related risk factors of surgical appendectomy after endoscopic retrograde appendicitis therapy (ERAT) in children.Methods:From September 2019 to November 2023 at the Children's Hospital Affiliated to Shandong University,the data from all related children with appendectomy after ERAT were analyzed. The general situation and main clinical manifestations of the children were collected. According to the effect of ERAT,the patients were divided into transfer to surgical group and appendicitis recurrence group by the reasons and time of transfer to surgical treatment. The indexes such as ERAT and reoperation process and pathological types of appendix after operation were collected,and the clinical experience was summarized.Results:Among the 242 children who underwent ERAT,32 cases underwent appendectomy again,including 19 males and 13 females,with an average age of（9.16±2.77）years,and the reoperation rate was 13.2%. The clinical manifestation was abdominal pain (32 cases,100.0%),mainly right lower abdominal pain (28 cases,87.5%),and the main duration was less than 3 months (30 cases,93.8%). Abdominal ultrasound or CT before ERAT mainly indicated appendicitis (11 cases,34.4%) and appendicitis complicated with appendiceal calculus (11 cases,34.4%). There were 9 children in transferred to surgical group,of which 5 cases were transferred to surgery because of ERAT intubation failure,and 4 cases were transferred to surgery because of appendix perforation or abscess. Postoperative pathology showed acute suppurative appendicitis in 5 cases and acute gangrenous appendicitis in 4 cases. There were 23 children in appendicitis recurrence group,whose abdominal pain was relieved after ERAT,but their symptoms were repeated after discharge. After clinical evaluation,they were diagnosed as recurrent appendicitis and underwent surgical appendectomy. Most of them were reoperated within 6 months after ERAT (21 cases,91.3%).Postoperative pathology was mainly chronic appendicitis (10 cases,43.5%).Conclusion:Acute suppurative appendicitis and acute gangrenous appendicitis are prone to catheterization or endoscopic failure during ERAT,and there is a high risk of surgical transfer. ERAT may relieve the symptoms of chronic appendicitis in children. If the symptoms are repeated,surgery is still needed to remove the appendix.

Non-alcoholic fatty liver disease (NAFLD), as a metabolic disease, has shown a constant upward trend in prevalence among the people in recent years. In addition to changing lifestyles and conventional drug treatment, bariatric surgery, represented by Roux-en-Y gastric bypass surgery and sleeve gastrectomy, has gradually become one of the treatment options for NAFLD. However, the mechanism of bariatric surgery in treating NAFLD remains to be studied. The "multiple-hit theory", which has gradually been recognized in recent years, believes that NAFLD is formed by the combined effect of multiple mechanisms such as insulin resistance, bile acid metabolism pathway, and intestinal flora. Based on relevant literatures and clinical practices, the authors explore the relevant mechanisms of bariatric surgery for direct or indirect treatment of NAFLD.