Objective: To investigate the clinical presentation and genetic characteristics of malignant infantile osteopetrosis. Methods: This was a retrospective case study. Thirty-seven children with malignant infantile osteopetrosis admitted into Beijing Children's Hospital from January 2013 to September 2022 were enrolled in this study. According to the gene mutations, the patients were divided into the CLCN7 group and the TCIRG1 group. Clinical characteristics, laboratory tests, and prognosis were compared between two groups. Wilcoxon test or Fisher exact test were used in inter-group comparison. The survival rate was estimated with the Kaplan-Meier method and the Log-Rank test was used to compare the difference in survival between groups. Results: Among the 37 cases, there were 22 males and 15 females. The age of diagnosis was 0.5 (0.2, 1.0) year. There were 13 patients (35%) and 24 patients (65%) with mutations in CLCN7 and TCIRGI gene respectively. Patients in the CLCN7 group had an older age of diagnosis than those in the TCIRGI group (1.2 (0.4, 3.6) vs. 0.4 (0.2, 0.6) years, Z=-2.60, P=0.008). The levels of serum phosphorus (1.7 (1.3, 1.8) vs. 1.1 (0.8, 1.6) mmol/L, Z=-2.59, P=0.010), creatine kinase isoenzyme (CK-MB) (457 (143, 610) vs. 56 (37, 82) U/L, Z=-3.38, P=0.001) and the level of neutrophils (14.0 (9.9, 18.1) vs. 9.2 (6.7, 11.1) ×10⁹/L, Z=-2.07, P=0.039) at diagnosis were higher in the CLCN7 group than that in the TCIRG1 group. However, the level of D-dimer in the CLCN7 group was lower than that in the TCIRGI group (2.7 (1.0, 3.1) vs. 6.3 (2.5, 9.7) μg/L, Z=2.83, P=0.005). After hematopoietic stem cell transplantation, there was no significant difference in 5-year overall survival rate between the two groups (92.3%±7.4% vs. 83.3%±7.6%, χ²=0.56, P=0.456). Conclusions: TCIRGI gene mutations are more common in children with osteopetrosis. Children with TCIRGI gene mutations have younger age, lower levels of phosphorus, CK-MB, and neutrophils and higher level of D-dimer at the onset. After hematopoietic stem cell transplantation, patients with CLCN7 or TCIRGI gene mutations have similar prognosis.
Child ; Male ; Female ; Humans ; Osteopetrosis/therapy* ; Retrospective Studies ; Prognosis ; Genes, Recessive ; Phosphorus ; Chloride Channels/genetics* ; Vacuolar Proton-Translocating ATPases/genetics*

Objective: To explore the effect of growth arrest-specific5 (GAS5) inhibition on the proliferation, colony formation, invasion, migration andepithelial-mesenchymal transition(EMT), cancer cell stem of HCT-116 and its mechanism. Methods: The colorectal carcinoma (CRC) cell HCT116 was divided into blank control, negative control (NC), si-GAS5 and si-GAS5+ miR-21 inhibitor groups. The quantitative real-time polymerase chain reaction (qRT-PCR) was used to test the expressions of miR-21 and GAS5 at 48 h after transfection. The binding site of GAS5 and miR-21 was determined by luciferase reporter array. Cell proliferation ability was detected by CCK-8 assay. Cell colony ability was detected by colony formation assay. Cell invasion and migration abilities were detected by Transwell assay. Cell cycle and apoptosis were examined by flow cytometer (FCM). The protein levels of EMT associated factors including Snail, N-cadherin, vimentin, E-cadherin, stem cell related factors including CD44, SOX2, Oct2, and PTEN/Akt signal pathway associated factors were examined by western blotting. Results: The expression levels of miR-21 in blank, NC, si-GAS5 group were 1.00±0.10, 1.00±0.10, 1.80±0.20, the absorbance values were 0.51±0.02, 0.50±0.01 and 0.65±0.01, the cell clones were 90±4, 91±5, 200±8, the invaded cells were 118±3, 119±3, 150±4, the migrated cells were 110±2, 108±2, 127±2, the cell ratios in G(1) phase were (49.3±2.1)%, (50.1±2.0)% and (42.2±1.1)%, the cell ratios in S phase were (19.2±1.2)%, (20.2±1.1)% and (28.3±2.2)%, the cell apoptotic ratios were (14.4±2.2)%, (14.5±2.1)% and (7.2±1.3)%. These results indicated that inhibition of GAS5 up regulated the expression level of miR-21, promoted cell proliferation, invasion and migration, decreased G(1)-phase cells and increased S-phase cells, and suppressed cell apoptosis (P<0.05). Moreover, inhibition of GAS5 up regulated the expressions of Snail, N-cadherin, vimentin, Sox2, CD44, Oct2 and p-Akt in HCT-116 cells (P<0.05), while down regulated the expressions of E-cadherin and PTEN (P<0.05). Inhibition of miR-21 reversed the impact of GAS5 knockdown on PTEN/Akt signaling pathway (P<0.05). Conclusion: GAS5 can act as a competing endogenous RNA for miR-21, and down regulation of GAS5 can promote the development of CRC by activating the miR-21/PTEN/Akt signaling pathway and promoting the acquisition of EMT and tumor cell stemness.
Humans ; Cadherins/metabolism* ; Cell Line, Tumor ; Cell Movement/genetics* ; Cell Proliferation/genetics* ; Colorectal Neoplasms/pathology* ; Epithelial-Mesenchymal Transition/genetics* ; Gene Expression Regulation, Neoplastic ; MicroRNAs/metabolism* ; Proto-Oncogene Proteins c-akt/metabolism* ; PTEN Phosphohydrolase/metabolism* ; Vimentin/metabolism*

OBJECTIVE: To evaluate clinical effect of unilateral approach and bilateral decompression via large channel endoscopic system for the treatment of lumbar spinal stenosis. METHODS: The clinical data of 32 patients with lumbar spinal tenosis treated by unilateral approach and bilateral decompression via large channel endoscopy from February 2018 to February 2019 were retrospectively analyzed. There were 18 males and 14 females, aged 65 to 84 years old with an average of (70.6± 8.4) years. The course of disease was from 1 to 12 years. All 32 cases were accompanied by numbness or pain in the lower limbs, of which 28 cases were accompanied by intermittent claudication. Narrow segments were L RESULTS: All the patients were followed up for 12-24 (17.68±2.43) months and all operations were successfully completed with the operation time of 70-160(85.64±11.94) min. Spinal dural tear occurred in 1 case during the operation, and sensory disturbance in the other side of lower limb in a short period of time occurred in 2 cases, all improved after corresponding treatment. Postoperative imaging showed that the spinal canal was significantly enlarged and the nerve root was fully released. Before operation and 3 days, 3 months, 1 year after operation, VAS scores of low back pain were 4.62 ±1.41, 2.73 ±1.35, 1.21 ±1.17, 1.11 ±0.34, respectively;VAS scores of leg pain were 6.83 ± 1.71, 3.10±1.50, 1.08±0.19, 0.89±0.24, respectively. VAS scores of low back pain and leg pain each time point after operation were obvious improved ( CONCLUSION It is a safe and effective way to treat lumbar spinal stenosis with unilateral approach and bilateral decompression via large channel endoscopic system. It has the advantages of sufficient decompression, less trauma, fast recovery, high safety and low incidence of postoperative complications. It can minimize the damage to the stable structure of the lumbar spine and is an ideal minimally invasive operation for the treatment of lumbar spinal stenosis.
Aged ; Aged, 80 and over ; Decompression, Surgical ; Endoscopy ; Female ; Humans ; Lumbar Vertebrae/surgery* ; Male ; Retrospective Studies ; Spinal Stenosis/surgery* ; Treatment Outcome

Objective: The relationship between serum uric acid (SUA) levels and glycemic indices, including plasma glucose (FPG), 2-hour postload glucose (2h-PG), and glycated hemoglobin (HbA1c), remains inconclusive. We aimed to explore the associations between glycemic indices and SUA levels in the general Chinese population. Methods: The current study was a cross-sectional analysis using the first follow-up survey data from The China Cardiometabolic Disease and Cancer Cohort Study. A total of 105,922 community-dwelling adults aged ≥ 40 years underwent the oral glucose tolerance test and uric acid assessment. The nonlinear relationships between glycemic indices and SUA levels were explored using generalized additive models. Results: A total of 30,941 men and 62,361 women were eligible for the current analysis. Generalized additive models verified the inverted U-shaped association between glycemic indices and SUA levels, but with different inflection points in men and women. The thresholds for FPG, 2h-PG, and HbA1c for men and women were 6.5/8.0 mmol/L, 11.0/14.0 mmol/L, and 6.1/6.5, respectively (SUA levels increased with increasing glycemic indices before the inflection points and then eventually decreased with further increases in the glycemic indices). Conclusion An inverted U-shaped association was observed between major glycemic indices and uric acid levels in both sexes, while the inflection points were reached earlier in men than in women.
Aged ; Asian Continental Ancestry Group ; Blood Glucose/analysis* ; China/epidemiology* ; Cohort Studies ; Diabetes Mellitus/blood* ; Female ; Glucose Tolerance Test ; Glycated Hemoglobin A/analysis* ; Glycemic Index ; Humans ; Male ; Middle Aged ; Uric Acid/blood*

OBJECTIVE: To compare the curative effect of refined moxibustion, traditional moxa box moxibustion and Chinese patent medicine on the sequelae of pelvic inflammatory disease with METHODS: A total of 150 patients with sequelae of pelvic inflammatory disease with RESULTS: After treatment, the TCM symptoms, body signs and comprehensive scores of each group were lower than those before treatment ( CONCLUSION Compared with traditional moxa box moxibustion and Chinese patent medicine treatment, refined moxibustion can better improve the symptoms, body signs and quality of life in patients with the sequelae of pelvic inflammatory disease of
Acupuncture Points ; Female ; Humans ; Moxibustion ; Pelvic Inflammatory Disease/therapy* ; Qi ; Quality of Life

Objective: To evaluate the predictive performance of anthropometric indices for metabolic syndrome (MetS) among Chinese adolescents with different nutritional status. Methods: We recruited 9,513 adolescents aged 10-18 years from seven provinces in China during September 2014. Anthropometric indices and blood pressure were measured at recruitment, and blood samples were collected for determining fasting plasma glucose and lipid profile. Receiver operating characteristic (ROC) analyses were used to assess the predictive performance of anthropometric indices, including body mass index (BMI) percentile, waist circumference percentile, waist-height ratio, and waist-hip ratio. Results: Overall, the four anthropometric indices showed good accuracy for predicting MetS with areas under ROC curves (AUCs) ranging from 0.86 to 0.94; similar AUCs ranging from 0.73 to 0.99 were observed for participants with normal weight. The performance of all four indices was poor in overweight and obese participants, with AUCs ranging from 0.66 to 0.77 and from 0.60 to 0.67, respectively. Waist circumference showed relatively better performance in all the subgroup analyses. Conclusions We suggest using anthropometric indices with the cutoff values presented here for predicting MetS in the overall and normal-weight adolescent population, but not in the overweight and obese adolescent population where more specific screening tests are required.
Adolescent ; Asians ; Body Weights and Measures ; Child ; China ; Cross-Sectional Studies ; Female ; Humans ; Male ; Metabolic Syndrome/diagnosis* ; Nutritional Status ; Randomized Controlled Trials as Topic

OBJECTIVE: To compare the clinical features and follow-up results of systemic lupus erythematosus (SLE) between boys and girls. METHODS: A retrospective analysis was performed for the clinical data of 79 children (18 boys and 61 girls), aged ≤14 years, who were diagnosed with SLE from 2008 to 2018. The boys and the girls were compared in terms of initial and major clinical symptoms, injury of organs/systems, related laboratory markers, and follow-up results. RESULTS: As for the initial and non-initial symptoms, fever had the highest incidence rate in the boys, while facial erythema had the highest incidence rate in the girls. The boys tended to develop renal injury and hematological damage (P<0.05), with a significantly higher incidence rate of proteinuria than the girls (P<0.05), while the girls tended to develop joint pain (P<0.05). There were high abnormal rates (>80%) of anti-nuclear antibody, dsDNA, complement C3, and erythrocyte sedimentation rate in both boys and girls (P>0.05). The boys had a significantly higher disease activity than the girls at the first visit and in year 9 of follow-up (P<0.05). A one-month to ten-year follow-up showed that among the boys, 3 were lost to follow-up, 1 died, 7 were well controlled but required oral administration of large doses of hormones or immunosuppression, 2 progressed to chronic renal failure, and 1 developed lupus encephalopathy. Among the girls, 3 were lost to follow-up; 5 died; 34 were well controlled, among whom 5 were maintained on oral prednisone acetate with a dose of <10 mg, 1 was withdrawn from the drug for 1 year, and 2 were withdrawn from the drug for 2 years; 4 developed lupus encephalopathy; 1 developed depression and anxiety and had suicidal tendency in the 7th year after disease onset; 2 experienced impaired vision, blurred vision, and chloropsia; 1 developed a vascular necrosis of both femoral heads in the 3rd year of hormone administration. CONCLUSIONS There are differences in clinical features, several laboratory markers, and prognosis between boys and girls with SLE. Boys tend to have a high severity at disease onset, develop renal injury and hematological damage, and have poor long-term prognosis, while girls tend to have joint involvement.

OBJECTIVE To evaluate the decontamination capability of hydrogel polymer coated ZnO nanoparticles (ZnO NP-gel) against soman. METHODS ZnO NP was synthetized using chemical precipitation method and modified with 4-pentenoic acid,and then polymerized with comonomers to obtain ZnO NP-gel. The transmission electron microscope (TEM), scanning electron microscope (SEM) and particle size instrument were used to observe the internal structure,micromorphology,particle size and zeta potential of these materials. An infrared spectroscope (IR) was used to analyze their chemical bond structure,while X-ray diffraction (XRD) was used to analyze the diffraction pattern.The content of soman was determined by benzidine chromogenic reaction. ZnO NP(1 g·L-1), ZnO NP-gel (1 g·L-1) and distilled water were mixed with soman(52.2 mg·L-1),stood for 30 min,and then filtered before filtrate was subcutaneously injected into mice (40 μL·g-1) to observe the symptoms of poisoning and death. RESULTS SEM and TEM showed that ZnO NP-gel had a block structure, the zeta potential of which was (-7.89 ± 0.04) mV. The results of IR indlicated that ZnO NP-gel had stronger absorption peaks at 754 and 618 cm-1, and XRD revealed that these materials had a sharp peak at 2θ=8.06738°. The decontamination efficiency of ZnO NP-gel was higher than that of ZnO NP group at the same concen?tration (n=3, P<0.05), and the time for decontamination of 50% soman was shortened by four times. The mice were injected subcutaneously with the soman solution treated with ZnO NP-gel, which caused no convulsion or death. CONCLUSION ZnO NP-gel can perform the double function of fast adsorption and catalysis of soman,and the decontamination ability of which could be improved through polymer modification.

Objective To compare the short-term therapeutic effects of the caudal-to-crainal and medial-to-lateral approaches for laparoscopic right hemicolectomy. Method The clinical data of 124 patients underwent laparoscopic right hemicolectomy in the department of gastrointestinal surgery, the First Affiliated Hospital of Kunming Medical Universitiy from,June 2014 to June 2016,were analyzed retrospectively. According the surgical operation, the patients were divided into two groups,caudal-to-crainal group with 48 patients,and medial-to-lateral group with 76 patients. The characteristics, opertation time, volum of blood loss during operation, the number of lymph node dissection, the rate of conversion to laparotomy,postoperative eating time, postoperative ventilation time, postoperative hospital stay time, postoperative complications of the two groups were analyzed to compare the short-term therapeutic effects. Result No significant differences were found in the sexual distinction, age, BMI,the volume blood loss during the operation, the number of lymph node dissection, the rate of conversion to laparotomy, postoperative eating time, postoperative ventilation time, postoperative hospital stay time, postoperative complications between the two groups (P＞0.05).Significant differences were found in the operation time [caudal-to-crainal group vs medial-to-lateral group (123.49 ±14.19 min VS 140.57 ±25.40 min) ] and the blood loss of the operation [caudal-to-crainal group vs medial-to-lateral group (60.63±24.00 ml vs 77.24 ±36.90 ml) ]. Conclusion The caudal-to-crainal approach for laparoscopic right hemicolectomy is more simple, practicable, with less blood loss during the operation and safer, which worth being recommended in right-hemicolectom-surgery.

Numerous studies have demonstrated that estrogens may exert multifaceted effects on the cardiovascular system via activating the classical nuclear receptors ERα or ERβ and the novel G protein coupled estrogen receptor (Gper). However, some studies have reported inconsistent cardiovascular phenotypes in Gper-deficient mice. The current study was aimed to reveal the effects of genetic deletion of Gper on the arterial blood pressure (ABP) and heart rate in rats. Gper-deficient Sprague-Dawley rats were generated by utilizing the CRISPR-Cas9 gene-editing technique. ABP of 10-week old male (n = 6) and 12-week old female (n = 6) Gper-deficient rats and age-matched wild type (WT) rats (6 females and 6 males) were measured under awake and restrained conditions through the non-invasive tail-cuff method daily for 8 (females) or 9 days (males). In the male WT rats, ABP and heart rate were slightly higher in day 1 to 4 than those in day 5 to 9, indicative of stress-related sympathoexcitation in the first few days and gradual adaptation to the restrained stress in later days. Gper-deficient rats had significantly higher ABP initially (male: day 1 to day 5; female: day 1 to day 3) and similar ABP in later days of measurement compared with the WT rats. The heart rate of male Gper-deficient rats was consistently higher than that of the male WT rats from day 1 to day 8. Both male and female Gper-deficient rats appeared to show slower body weight gain than the WT counterparts during the study period. Under anesthesia, ABP of Gper-deficient rats was not significantly different from their WT counterparts. These results indicate that Gper-deficient rats may be more sensitive to stress-induced sympathoexcitation and highlight the importance of Gper in the regulation of the cardiovascular function in stressful conditions.