OBJECTIVES: To study the clinical and genetic characteristics of osteopetrosis (OPT) in children. METHODS: A retrospective analysis was performed on the clinical data of 14 children with OPT. Whole-exome sequencing was used to detect pathogenic genes, and clinical phenotypes and genotypic features were summarized. RESULTS: Among the 14 children (10 males and 4 females), the median age at diagnosis was 8 months. Clinical manifestations included systemic osteosclerosis (14 cases, 100%), anemia (12 cases, 86%), infections (10 cases, 71%), thrombocytopenia (9 cases, 64%), hepatosplenomegaly (8 cases, 57%), and developmental delay (5 cases, 36%). Malignant osteopetrosis (MOP) cases had lower platelet counts, creatine kinase isoenzyme, and serum calcium levels, but higher white blood cell counts, lactate dehydrogenase, and alkaline phosphatase levels compared to non-MOP cases (P<0.05). Genetic testing identified 15 variants in 12 patients, including 8 variants in the CLCN7 gene (53%), 6 in the TCIRG1 gene (40%), and 1 in the TNFRSF11A gene (7%). Three novel CLCN7 variants were identified: c.2351G>C, c.1215-43C>T, and c.1534G>A. All four patients with TCIRG1 variants exhibited MOP clinical phenotypes. Of the seven patients with CLCN7 variants, 4 presented with intermediate OPT, 2 with benign OPT, and 1 with MOP. CONCLUSIONS Clinical phenotypes of OPT in children are heterogeneous, predominantly involving CLCN7 and TCIRG1 gene variants, with a correlation between clinical phenotypes and genotypes.
Humans ; Osteopetrosis/genetics* ; Male ; Female ; Infant ; Child, Preschool ; Retrospective Studies ; Vacuolar Proton-Translocating ATPases/genetics* ; Child ; Chloride Channels/genetics* ; Mutation ; Receptor Activator of Nuclear Factor-kappa B

OBJECTIVE: To analyze two families with inherited dysfibrinogenemia, and explore the molecular pathogenic mechanisms. METHODS: The coagulation indexes of the probands and their family members were detected. The FGA, FGB, and FGG exons and their flanking sequences were amplified by PCR, and the mutation sites were identified by sequencing. SIFT, PolyPhen2, LRT, ReVe, MutationTaster, phyloP, and phastCons bioinformatics software were used to predict the functional impact of the mutation sites. Protein structure and amino acid conservation analysis of the variant were conducted using PyMOL and Clustal X software. RESULTS: The thrombin time (TT) of the proband in family 1 was prolonged to 37.00 s, and Fg∶C decreased to 0.52 g/L. The TT of the proband in family 2 was 20.30 s, and Fg∶C was 1.00 g/L, which was lower than the normal range. Genetic analysis revealed that the proband in family 1 had a heterozygous mutation c.80T>C in FGA, resulting in the substitution of phenylalanine 27 with serine (Phe27Ser). The proband in family 2 had a heterozygous mutation c.1007T>A in FGG, resulting in the substitution of methionine 336 with lysine (Met336Lys). Bioinformatics software prediction analysis indicated that both mutations were deleterious variants. PyMOL mutation models revealed that the Aα chain mutation (Phe27Ser) in family 1 and γ chain mutation (Met336Lys) in family 2 resulted in alterations in spatial structure and reduced protein stability. Clustal X results showed that both Aα Phe27 and γMet336 were highly conserved across homologous species. CONCLUSION Heterozygous mutations of FGA gene c.80T>C and FGG gene c.1007T>A are both pathogenic variants, causing inherited dysfibrinogenemia.
Female ; Humans ; Male ; Afibrinogenemia/genetics* ; Fibrinogen/genetics* ; Heterozygote ; Mutation ; Pedigree

Objective： To analyze the symptoms, diagnosis and treatment of upper urinary tract calculi patients combined with mild and moderate benign prostatic hyperplasia (BPH) after ureteral stent implantation. Methods： One hundred and six BPH patients who were hospitalized for upper urinary tract calculi and had ureteral stents retained from January 2019 to December 2022 were selected and divided into 2 weeks group and 4 weeks group according to the time of removal of ureteral stents after surgery. Their general clinical data were analyzed and compared. International Prostatic Symptom Scale (IPSS), postoperative ureteral Stent Symptom Questionnaire (USSQ), and incidence of adverse events after ureteral stent removal were recorded before and after removal. Results： The scores of IPSS were significantly increased in all patients, and symptoms in urinary tract had improved significantly after discharge (P<0.05). Compared with the 2 weeks group, the USSQ score of the 4 weeks group was significantly increased (P<0.05). And no significant adverse event was observed in the 2 weeks group after the removal of ureteral sten. Conclusion： IPSS score and USSQ score increased significantly during stent implantation in BPH patients with lithiasis. And complications increased significantly over time. Following thorough clinical assessment, early ureteral stent removal demonstrates both safety and efficacy, representing an optimal therapeutic approach in selected cases.
Humans ; Male ; Prostatic Hyperplasia/surgery* ; Stents ; Ureter/surgery* ; Aged ; Middle Aged ; Urinary Calculi/surgery* ; Ureteral Calculi/surgery*

OBJECTIVE: Recombination events are common and serve as the primary driving force of diverse human adenovirus (HAdV), particularly in children with acute respiratory tract infections (ARIs). Therefore, continual monitoring of these events is essential for effective viral surveillance and control. METHODS: Respiratory specimens were collected from children with ARIs between January 2022 and December 2023. The penton base, hexon, and fiber genes were amplified from HAdV-positive specimens and sequenced to determine the virus type. In cases with inconsistent typing results, genes were cloned into the pGEM-T vector to detect recombination events. Metagenomic next-generation sequencing (mNGS) was performed to characterize the recombinant HAdV genomes. RESULTS: Among 6,771 specimens, 277 (4.09%, 277/6,771) were positvie for HAdV, of which 157 (56.68%, 157/277) were successfully typed, with HAdV-B3 being the dominant type (91.08%, 143/157), and 14 (5.05%, 14/277) exhibited inconsistent typing results, six of which belonged to species B. The penton base genes of these six specimens were classified as HAdV-B7, whereas their hexon and fiber genes were classified as HAdV-B3, resulting in a recombinant genotype designated P7H3F3, which closely resembled HAdV-B114. Additionally, a partial gene encoding L1 52/55 kD was identified, which originated from HAdV-B16. CONCLUSION A novel recombinant, P7H3F3, was identified, containing sequences derived from HAdV-B3 and HAdV-B7, which is similar to HAdV-B114, along with additional sequences from HAdV-B16.
Humans ; Adenoviruses, Human/isolation & purification* ; Respiratory Tract Infections/epidemiology* ; Child, Preschool ; Child ; Recombination, Genetic ; Male ; Beijing/epidemiology* ; Infant ; Female ; Phylogeny ; Adenovirus Infections, Human/epidemiology* ; Acute Disease ; Genome, Viral

Objective    To investigate the clinical effect of 3D computed tomography bronchial bronchography and angiography (3D-CTBA) and guidance of thoracoscopic anatomic pulmonary segmentectomy by Mimics software system. Methods    A retrospective analysis was performed on patients who underwent thoracoscopic segmentectomy in the Department of Thoracic Surgery of Affiliated People's Hospital of Jiangsu University from June 2020 to December 2022. The patients who underwent preoperative 3D-CTBA using Materiaise's interactive medical image control system (Mimics) were selected as an observation group, and the patients who did not receive 3D-CTBA were selected as a control group. The relevant clinical indicators were compared between the two groups. Results    A total of 59 patients were included, including 29 males and 30 females, aged 25-79 years. There were 37 patients in the observation group, and 22 patients in the control group. The operation time (163.0±48.7 min vs. 188.8±43.0 min, P=0.044), intraoperative blood loss [10.0 (10.0, 20.0) mL vs. 20.0 (20.0, 35.0) mL, P<0.001], and preoperative puncture localization rate (5.4% vs. 31.8%, P=0.019) in the observation group were better than those in the control group. There was no statistically significant difference in the thoracic tube placement time, thoracic fluid drainage volume, number of intraoperative closure nail bin, postoperative hospital stay, or postoperative air leakage incidence (P>0.05) between the two groups. Conclusion    For patients who need to undergo anatomical pulmonary segmentectomy, using Mimics software to produce 3D-CTBA before surgery can help accurately identify pulmonary arteriovenous anatomy, reduce surgical time and intraoperative blood loss, help to determine the location of nodules and reduce invasive localization before surgery, and alleviate patients' pain, which is worthy of clinical promotion.

Since the first operational definition of cognitive frailty was proposed by the expert consensus group of the International Academy of Nutrition and Aging and the International Association of Gerontology and Geriatrics in 2013, frailty and neurocognitive assessment has become the standard diagnostic tool.Since then, the reported prevalence in the literature for cognitive frailty in community-dwelling elderly people vary by dozens of times, as a result of different scales and diagnostic cut-off points, seriously affecting health decision-making.This article reviewed the current literature with a focus on the re-recognition of the clinical significance of cognitive frailty, the limitations of existing assessment tools for diagnosis, and possible solutions in the future.

Objective: To examine the developmental trajectory of fine motor ability in schoolage children with attention deficit hyperactivity disorder (ADHD) for two years, so as to provide scientific evidence to promote motor development in ADHD children. Methods: From April to June 2019, 31 children aged 6-8 years old were selected from a public elementary school. They were diagnosed with ADHD by two psychiatric professionals according to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V) criteria. Additionally, 31 typical developmental children, matched for age, sex and IQ with the ADHD group, were recruited as the control group. Fine motor ability was assessed with tasks of hand manual dexterity in Movement Assessment Battery for Children-2 (MACB-2), and a followup assessment was conducted from April to June 2021. The development changes of fine motor ability between two groups of children were compared by using t test and repeated measures analysis of variance. Results: Between baseline and followup periods after two years, the total score of hand fine motor in the ADHD group did not show significant improvement (7.4±3.0, 8.0±3.4; t=-1.05, P>0.05), while there was a small effect size improvement in typically developing control group (9.5±2.1, 10.5±2.4; t=-2.12, effect size=0.38, P<0.05). Followup after two years, coin/peg throwing scores with dominant hand improved between ADHD group and control group (7.0±3.3, 9.5±3.2; 8.4±2.8, 11.6±1.6) (t=-3.74, -6.33, P<0.01; effect size=0.67, 1.14), with a smaller improvement in the ADHD group. The score for threading beads/threads decreased in between ADHD group and control group (7.9±2.4, 5.8±3.1; 9.2±1.1, 8.2±1.9) (t=3.89, 2.78, P<0.01; effect size=0.70, 0.50), with a greater decrease in the ADHD group. Conclusions The development speed of fine motor ability in children with ADHD aged 6-8 is slow and continues to lag behind normal developmental children. Fine motor development in children with ADHD should be closely monitored, and targeted interventions should be implemented when necessary.

【Objective】 To discuss the effect of adding tranexamic acid(TXA) during surgery on blood loss and security during short segment lumbar spinal stenosis surgery. 【Methods】 One hundred and eight patients with lumbar spinal stenosis who were to undergo lumbar posterior fusion surgery were randomly divided into control group, TXA group and adding TXA group, with 36 patients in each group. In the control group, TXA was not used during surgery.The TXA group received intravenous infusion of 100 mL normal saline mixture containing 1 g of TXA 15 minutes before surgery after anesthesia. In adding TXA group, after the same operation in TXA group, 10 mg/kg(body weight) of TXA was infused 3 hours later. Total perioperative blood loss, dominant blood loss, hidden blood loss, intraoperative blood loss, postoperative drainage volume, and transfusion rate were recorded in the two groups. Hemoglobin (Hb), hematocrit(HCT), prothrombin time international standardized ratio (PT-INR), prothrombin time(PT), activated partial thromboplastin time(APTT), blood platelet count (BPC), D-dimer (D-D), fibringen(FIB), C-reactive protein (CRP), alanine aminotransferase (ALT), blood urea nitrogen (BUN) were measured 3 days before and after the surgery in the three groups. Postoperative adverse events were followed up. 【Results】 The total blood loss(mL) [(968.7±209.6) vs (1 369.8±276.3), (968.7±209.6) vs (1 273.9±250.2)], dominant blood loss(mL) [(590.5±164.3) vs (876.4±235.9), (590.5±164.3) vs (789.3±221.7)], intraoperative blood loss(mL) [(318.7±120.7) vs (457.8±146.6), (318.7±120.7) vs (423.9±162.3)] and postoperative drainage volume(mL) [1 day after surgery: (164.6±25.0) vs (262.3±51.7), (164.6±25.0) vs (219.8±37.1); 3 days after surgery: (107.2±18.6) vs (156.3±37.6), (107.2±18.6) vs (145.3±22.3)] of the adding TXA group were lower than those of the control group and TXA group (P<0.05), and the transfusion rate was lower than that of the control group (P<0.05).The postoperative drainage volume and transfusion rate of TXA group were lower than that of the control group (P<0.05).There was no statistical difference in the amount of hidden blood loss between the three groups (P>0.05). Compared with the preoperative results, Hb, Hct and BPC in the three groups decreased (P<0.05), and D-D, FIB and CRP increased (P<0.05), but the change degree of Hb, Hct, BPC, D-D and CRP in the TXA group and the adding TXA group was less than that in the control group (P<0.05), and the change degree of Hb, Hct, BPC, D-D and CRP in the adding TXA group was less than that in the TXA group (P<0.05).There was no statistically significant difference in PT-INR, PT, APTT, ALT and BUN between and within the three groups before and after surgery (P>0.05), and all of them were within the normal range. No serious adverse events such as deep vein thrombosis, pulmonary embolism, epilepsy, liver and kidney damage were found in all patients after postoperative follow-up. 【Conclusion】 Intraoperative addition of TXA can effectively reduce the amount of blood lost during short segment lumbar spinal stenosis surgery without increasing the risk of complications such as coagulation disorders, thrombosis, liver and kidney function damage.

ObjectiveTo investigate the influencing factors for rebleeding after endoscopic therapy and the effect of the number of sequential treatment sessions on postoperative rebleeding in patients with liver cirrhosis receiving secondary prevention of gastroesophageal varices （GOV）. MethodsA total of 1 717 patients with liver cirrhosis who received secondary prevention of GOV and attended The 960th Hospital of the PLA Joint Logistice Support Force from January 2017 to December 2021 were enrolled， and according to the presence or absence of bleeding after endoscopic therapy， they were divided into non-bleeding group and rebleeding group. The influencing factors for rebleeding were analyzed， as well as the association between the number of endoscopic treatment sessions and rebleeding. The chi-square test was used for comparison of categorical data between groups； the independent-samples t test or the Mann-Whitney U test was used for comparison of continuous data between the two groups； the Kruskal-Wallis H test was used for comparison bertween multiple groups， and the Wilcoxon test was used for further comparison between two groups. The Cox regression model was used to investigate the influencing factors for rebleeding， and the Kaplan-Meier method was used to plot survival curves， while the Log-rank test was used for comparison between groups. ResultsOf all patients， 286 （16.7%） experienced rebleeding after endoscopic therapy， and 1 431 （83.3%） did not experience bleeding. There were significant differences between the two groups in history of smoking and drinking， etiology of liver cirrhosis， hemoglobin （Hb）， prothrombin time （PT）， prothrombin activity （PTA）， international normalized ratio （INR）， albumin （Alb）， fasting blood glucose， blood urea nitrogen， Child-Pugh class， aspartate aminotransferase-to-platelet ratio index （APRI） score， albumin-bilirubin （ALBI） score， use of non-selective beta-blocker （NSBB） before surgery， treatment modality， type of varices， and maximal varicose vein diameter （all P<0.05）. The univariate Cox regression analysis showed that in the patients with liver cirrhosis who received secondary prevention of GOV， rebleeding was associated with history of smoking and drinking， etiology of liver cirrhosis， use of NSBB before surgery， treatment modality， maximal varicose vein diameter， Hb， platelet count， PT， PTA， INR， Alb， total bilirubin （TBil）， alkaline phosphatase （ALP）， gamma-glutamyl transpeptidase， blood glucose， Child-Pugh class， and ALBI score （all P<0.05）. The multivariate Cox regression analysis showed that Hb （hazard ratio ［HR］=0.989， 95% confidence interval ［CI］： 0.983‍ ‍—‍ ‍0.994， P<0.001）， TBil （HR=1.020， 95%CI： 1.006‍ ‍—‍ ‍1.034， P=0.005）， Alb （HR=0.868， 95%CI： 0.758‍ ‍—‍ ‍0.994， P=0.041）， treatment modality （sclerosing agent： HR=2.158， 95%CI： 1.342‍ ‍—‍ ‍3.470， P=0.002； tissue adhesive： HR=2.709， 95%CI： 1.343‍ ‍—‍ ‍5.462， P=0.005； ligation+sclerosing agent： HR=3.181， 95%CI： 1.522‍ ‍—‍ ‍6.645， P=0.002； sclerosing agent+tissue adhesive： HR=1.851， 95%CI： 1.100‍ ‍—‍ ‍3.113， P=0.020）， ALP （HR=1.003， 95%CI： 1.001‍ ‍—‍ ‍1.004， P=0.002）， and maximal varicose vein diameter （HR=1.346， 95%CI： 1.119‍ ‍—‍ ‍1.618， P=0.002） were independent influencing factors for rebleeding after endoscopic therapy. Comparison of rebleeding rate after different numbers of sequential treatment sessions showed that the patients treated for three sessions had a significantly lower rebleeding rate than those treated for one or two sessions （χ²=8.643 and 5.277， P=0.003 and 0.022）. The survival analysis showed that with the increase in the number of treatment sessions， there was a significantly longer interval between rebleeding （P=0.006） and a significantly lower mortality rate （P<0.001）. ConclusionThe levels of TBil， ALP， Hb， and Alb on admission， endoscopic treatment modality， and maximal varicose vein diameter were the main predictive factors for rebleeding after endoscopic therapy for GOV in liver cirrhosis， and such predictive factors should be closely monitored in clinical practice. Regular endoscopic therapy can reduce the rebleeding and mortality rates of patients with liver cirrhosis and GOV and prolonmg the interval between rebleeding.

Objective To investigate the medication and blood glucose control of type 2 diabetes patients under chronic diseases management in Xi'an chain pharmacies,and provides reference for improving the management policy of diabetes at grassroots level.Methods A number of chain pharmacies in the sixth district of Xi'an were selected by random sampling method,and on-site interviews were conducted by questionnaire survey to patients with type 2 diabetes under the management of chronic diseases.The basic information of patients,medication status(medication plan,drug adherence,etc.),diabetes-related conditions(blood glucose status,family history,course and complications,etc.)were collected.Multivariate logistic regression was used to analyze the relevant factors of blood glucose control in patients.Results A total of 403 patients were surveyed,the largest number of patients use oral hypoglycemic drugs alone(53.4％),followed by insulin medication(including insulin only and insulin in combination with oral hypoglycemic drugs)(35.7％),and the differences between disease course and glycemic control among patients with different drug regimens were statistically significant(P＜0.05).Only 43.7％of patients had good medication compliance.In addition,the patient's fast plasma glucose compliance rate was only 39.2％.The results of multivariate logistic regression analysis showed that good medication compliance(OR=1.744,95％CI 1.104 to 2.754,P=0.017)were independent influencing factors for achieving glycemic control.Conclusion The medication compliance of type 2 diabetes patients with poor blood glucose control in chronic disease management of chain pharmacies in Xi'an needs to be strengthened.Pharmacies should emphasize and give full play to the professional and service advantages of pharmacists to realize the functional role of pharmacies and strengthen diabetes management.