Objective:To investigate the clinical characteristics and management status of children with Turner syndrome (TS) in China.Methods:As a cross-sectional study, 1 089 TS patients were included in the database of the National Collaborative Alliance for the Diagnosis and Treatment of Turner Syndrome from August 2019 to November 2023. Clinical characteristics (growth development, sexual development, organ anomalies, etc.), karyotypes, auxiliary examinations, and treatments were collected and analyzed.Results:Among the 1 089 TS cases, 809 were recorded karyotypes. The karyotype distribution was as follows: 45, X in 317 cases (39.2%), X chromosome structural variants (including partial deletions of p or q arm, ring chromosome, and marker chromosome) in 89 cases (11.0%), 45, X/46, XX mosaicism in 158 cases (19.5%), mosaicism with X chromosome structural variants in 209 cases (25.8%), and presence of Y chromosome material in 36 cases (4.4%). Among the 824 TS cases, the age of diagnosis was 9.7(6.4, 12.2) years, with a height standard deviation score (HtSDS) of -3.1±1.2. Five hundred and fifty three cases underwent growth hormone (GH) stimulation test, and 352 cases (63.7%) had GH peak values <10 μg/L and 75.9% (577/760) had low IGF1 levels, with IGF1 SDS ≤-2 accounting for 38.2% (290 cases). Among 471 cases aged ≥8 years, 132 cases (28.0%) showed spontaneous sexual development (mean bone age (11.0±1.7) years), 10 cases had spontaneous menarche (mean bone age (12.0±2.2) years), and 2 cases had regular menstrual cycles. Common physical features included cubitus valgus (311 cases (28.5%)), neck webbing (188 cases (17.2%)), low posterior hairline (185 cases (17.0%)), shield chest (153 cases (14.0%)), high arched palate (127 cases (11.6%)), short fourth metacarpal (43 cases (3.9%)), and spinal abnormalities (38 cases (3.5%)). Congenital cardiovascular and urogenital anomalies occurred in 91 cases (19.4%) and 66 cases (12.0%)respectively. Abdominal ultrasound in 33 cases (7.2%) indicated fatty liver, hepatomegaly, intrahepatic bile duct stones, and splenomegaly. Among 23 cases undergoing oral glucose tolerance test (OGTT) test, 2 were diagnosed with diabetes mellitus and 4 with impaired glucose tolerance. Following diagnosis, 669 cases (80.7%) received rhGH treatment at a chronological age of (9±4) years and bone age of (8.3±3.2) years. Additionally, 112 cases (19.4%) received sex hormone replacement therapy starting at the age of (14±4) years and bone age of (12.6±1.2) years.Conclusions:The karyotypes of 45, X and mosaicism were most common in Chinese children with TS. The clinical manifestations were mainly short stature and gonadal dysplasia. However, a few TS children could be in the normal range of height, and some cases among those aged of ≥8 years old had spontaneous sexual development. Some exhibited physical features, congenital cardiovascular and urogenital anomalies, and dysfunction of the hypothalamic-pituitary-IGF1 axis. Moreover, a few of them developed impaired glucose tolerance and diabetes mellitus. Following diagnosis, most of the patients received rhGH treatment, and a few of them received sex hormone replacement therapy.

Background::Although the treatment of peripheral T-cell lymphoma (PTCL) has undergone advancements during the past several years, the response rate and long-term effects with respect to patients with PTCL remain unsatisfactory—particularly for relapsed or refractory (R/R) patients. This phase II trial was designed to explore the efficacy and safety of an all-oral regimen of chidamide plus prednisone, cyclophosphamide, and thalidomide (CPCT) for R/R PTCL patients who could not tolerate the standard chemotherapy for a variety of reasons.Methods::We conducted a multicenter phase II clinical trial in which we combined chidamide (30 mg twice weekly) with prednisone (20 mg daily after breakfast), cyclophosphamide (50 mg daily after lunch), and thalidomide (100 mg daily at bedtime) (the CPCT regimen) for a total of fewer than 12 cycles as an induction-combined treatment period, and then applied chidamide as single-drug maintenance. Forty-five patients were ultimately enrolled from August 2016 to April 2021 with respect to Chinese patients at nine centers. Our primary objective was to assess the overall response rate (ORR) after the treatment with CPCT.Results::Of the 45 enrolled patients, the optimal ORR and complete response (CR)/CR unconfirmed (CRu) were 71.1% (32/45) and 28.9% (13/45), respectively, and after a median follow-up period of 56 months, the median progression-free survival (PFS) and overall survival (OS) were 8.5 months and 17.2 months, respectively. The five-year PFS and OS rates were 21.2% (95% confidence interval [CI], 7.9-34.5%) and 43.8% (95% CI, 28.3-59.3%), respectively. The most common adverse event was neutropenia (20/45, 44.4%), but we observed no treatment-related death.Conclusion::The all-oral CPCT regimen was an effective and safe regimen for R/R PTCL patients who could not tolerate standard chemotherapy for various reasons.Trial Registration::ClinicalTrials.gov, NCT02879526.

Objective:To compare the clinical effects of acute shortening-lengthening technique with antibiotic calcium sulfate-loaded bone transport technique for the treatment of segmental tibial defects after trauma.Methods:The clinical data of 58 patients with large tibial defects treated by Ilizarov technique in Xi′an Honghui Hospital Affiliated to Xi′an Jiaotong University from May 2014 to December 2019 were retrospectively analyzed. Thirty patients were treated by acute shortening-lengthening (group A), and they were divided into those who were successful in one-time shortening during operation (group A1) and those who needed gradual shortening after operation (group A2) according to different shortening conditions. And 28 patients by antibiotic calcium sulfate-loaded bone transport (group B). The external fixation time (EFT) and external fixation index (EFI) of the two groups were compared. Bone defect healing and limb functions were evaluated according to the Association for the Study and Application of the Method of Ilizarov (ASAMI) criteria. Complications were compared by Paley classification. The measurement data of normal distribution were expressed as ± s, and t-test was used for comparison between groups; the count data were expressed as n(%), and the chi-square test, Fisher exact probability method or Mann-Whitney U test were used for comparison between groups. Results:Patients were followed for(27.5±5.1)months. There was no significant difference in EFT, EFI, bone defect healing and limb functions between the two groups( P>0.05). The incidence of Grade-Ⅱ[41.2% (7/17)], Grade-Ⅲ [47.1% (8/17)] pin-tract infection in group A1 and Grade-Ⅱ[46.2% (6/13)], Grade-Ⅲ pin-tract [53.8% (7/13)] in group A2 was significantly higher than those in group B[14.3% (4/28)], [17.9% (5/28)] ( P<0.05). The number of complications per capita in group A1 [(1.4±0.3) times/case] and in group A2 [(1.5±0.3) times/case]was significantly higher than that in group B [(1.1±0.5) times/case]. Conclusions:Patients can be cured successfully by both acute shortening-lengthening and bone transport techniques. Compared with acute shortening-lengthening group, the complication incidence in antibiotic calcium sulfate-loaded bone transport group was lower, especially, the infection-related complications. Therefore, antibiotic calcium sulfate-loaded bone transport technique has a greater application prospect in patients with large segmental bone defects caused by infection or osteomyelitis.

Objective:To analyze the therapeutic effect of 3D printing technology combined with locking plate fixation on femoral shaft fracture in patients with femoral deformity.Methods:The clinical data of 33 patients with femoral shaft fracture with femoral deformity who met the inclusion criteria and underwent locking plate fixation in the Xi′an Honghui Hospital Affiliated to Xi′an Jiaotong University from June 2014 to December 2020 were retrospectively analyzed. The patients were divided into 3D printing group ( n=18) and control group ( n=15) according to whether 3D printing was performed before operation. The 3D printing group including 11 males and 7 females with an age of (46.78±13.76) years.The control group including 9 males and 6 females with an age of (48.20±14.27) years.The operation time, intraoperative blood loss, fracture healing time and complications of the two groups were recorded. Visual analogue scale (VAS) scores of pain were evaluated before and 6, 12, 24, 48 and 72 h after operation. According to the Harris hip score, the Hospital for Special Surgery (HSS) knee score and The MOS 36-item short-from Health Survey (SF-36), the hip and knee function and quality of life of the patients before and 12 months after injury were evaluated. The measurement data were represented as mean±standard deviation( ± s), and the comparison between groups was conducted using the t-test; the comparison of count data between groups was conducted by Chi-square test or Fisher exact probability. Results:The operation time, intraoperative blood loss, and incidence of complications in the 3D printing group were (91.50±9.07) min, (191.11±16.01) mL, and 0(0/18), respectively, and those in the control group were (118.07±14.19) min, (270.27±17.59) mL, and 26.7% (4/15), the differences between the two groups were statistically significant ( P <0.05). The pain VAS scores of the 3D printing group were significantly better than those of the control group at 6, 12, 24, 48, and 72 h after operation ( P<0.05). There were no differences in fracture healing time and preoperative pain VAS between the two groups( P>0.05). There were no significant differences in hip function, knee function and quality of life scores between the two groups before injury and 12 months after injury( P>0.05). Conclusion:In the treatment of femoral shaft fractures in patients with femoral deformity with locking plate fixation, the application of 3D printing technology can be used for preoperative design and plate preshaping, which can shorten the operation time, reduce the amount of intraoperative blood loss, reduce the VAS of pain and the incidence of complications, improve the satisfaction of surgery, and provide a new option for the treatment of femoral shaft fractures in patients with femoral deformity.

Objective To evaluate the safety and efficacy of intravascular lithotripsy(IVL)in the treatment of coronary artery calcification lesions.Methods A total of 53 patients who underwent endovascular imaging guided treatment of coronary artery calcified lesions with either IVL or cutting balloon(CB)at the Affiliated Hospital of Jining Medical College from January 2023 to July 2023 were retrospectively analysed(IVL:n=18,CB:n=35)were retrospectively analysed to compare the technique,clinical success rate,major adverse cardiovascular events(MACE)and readmission for cardiovascular events in patients followed during hospitalisation and 1 month after the procedure.Results Clinical success rates were identical in the IVL and CB groups(100.0％vs.100.0％,P＞0.999),the minimum lumen area of lesions was similar in the VL and CB groups[(1.7±0.4)mm2 vs.(1.7±0.5 mm2),P=0.628].And there was a statistically significant difference in the overall mean lesion length between the IVL and CB groups[(28.4±9.6)mm vs.(20.9±8.6)mm,P=0.008].During the procedure,there were no complications such as aneurysm,thrombus,or emergency vessel closure.There was a statistically significant difference in the overall mean value of residual stenosis between the IVL and CB groups[(1.7±1.7)％vs.(6.9±2.0)％,P=0.049].There were no MACE in either group during hospitalisation or at the one-month follow-up(0 vs.0,P＞0.999),and 3 patients in the CB group were readmitted for angina pectoris(0 vs.8.6％,P=0.543),with no significant difference in readmission rates between the two groups.Conclusions The technique of intravascular lithotripsy is safe and effective in the treatment of coronary artery calcification lesions.

Objective:To investigate the prognostic factors of patients with esophageal squamous cell carcinoma with pulmonary metastasis.Methods:Clinical characteristics of 135 esophageal squamous cell carcinoma patients presenting with pulmonary metastasis after treatment in Zhejiang Cancer Hospital from 2008 to 2018 were retrospectively analyzed. Thesurvival rate was calculated by Kaplan-Meier method. Univariate analysis was performed by log-rank test. Multivariate prognostic analysis was conducted by Cox models.Results:The median follow-up time of 135 patients with esophageal squamous cell carcinoma was 94.2 months (19.5-258.9 months), and 109 patients died (80.7%). The 1-and 2-year overall survival rates were 47.4% and 25.1%, with the median survival time was 11.1 months (7.3-14.9 months). Univariate prognostic analysis showed that age, number of lung metastases, treatment of lung metastases, lymph node metastasis, distant organ metastasis, and the interval between the first treatment and lung metastasis were the prognostic factors of esophageal squamous cell carcinoma with lung metastasis (all P<0.05). Multivariate analysis demonstrated that age and number of lung metastases were the independent prognostic factors for patients with esophageal squamous cell carcinoma with lung metastases (all P<0.05). Conclusions:Age and number of lung metastases are the independent prognostic factors for patients with esophageal squamous cell carcinoma with lung metastases. Surgery or radiotherapy-based regional therapy can enhance clinical prognosis.

Objective: To understand the prevalence of HIV, hepatitis C virus (HCV) and syphilis and related factors among cross-border couples in Mangshi county, Dehong autonomous prefecture, Yunnan province. Methods: From May, 2017 to April, 2019, 2 500 couples with 5 000 cross-border marriages were selected by using cluster sampling method. The demographic characteristics, AIDS-related health services, HIV, HCV, syphilis infection and other information were collected through questionnaires and laboratory tests. The influencing factors of HIV, HCV and syphilis infection were analyzed by multivariate logistic regression model. Results: A total of 2 500 couples with cross-border marriage were investigated, among which 2 438 (97.5%) couples were Chinese men with Myanmar women. The average age of 5 000 participants was (34.16±9.00) years. Most of them were minority groups (59.9%), farmers (98.5%), education years ≤6 years (81.4%), marriage years>3 years (80.0%), and from mountainous areas (61.7%). The HIV prevalence of Chinese and Myanmar populations was 1.7% (43/2 500) and 2.0% (49/2 500), respectively. The HCV infection rates were 2.0% (49/2 500) and 1.3% (32/2 500), respectively and the infection rates of syphilis were 0.4% (10/2 500) and 0.2% (4/2 500), respectively. There were no statistically significant differences in the prevalence of three diseases among Chinese and Myanmar populations (P>0.05). The multivariate analysis showed that compared with those aged ≤ 30 years, having lower AIDS awareness, never receiving HIV testing, without HCV and syphilis infection, HIV prevalence was higher among those aged>30 years (OR=3.21, 95%CI: 1.80-5.73), having higher AIDS awareness (OR=17.41, 95%CI: 4.27-70.91), receiving HIV testing (OR=4.93, 95%CI: 2.72-8.92), with HCV infection (OR=5.64, 95%CI: 2.72-11.70) and syphilis infection (OR=8.37, 95%CI: 1.63-43.08). Compared with those aged ≤ 30 years, having marriage years ≤ 3 years, and with HIV negatives, HCV infection rate was higher among those age>30 years (OR=3.02, 95%CI: 1.69-5.38), having marriage years>3 years (OR=2.24, 95%CI: 1.34-3.74), and with HIV positives (OR=6.69, 95%CI: 3.29-13.59). Compared with those having HIV negatives, the syphilis infection rate was relatively higher among participants with HIV positives (OR=9.07, 95%CI: 2.00-41.10). Conclusion: The prevalence of HIV, HCV, and syphilis among cross-border couples in Mangshi county, Dehong autonomous prefecture of Yunnan province is relatively high. Age, AIDS awareness, HIV testing history, and the length of marriage are associated with the HIV, HCV, and syphilis infection.
Acquired Immunodeficiency Syndrome ; China/epidemiology* ; Female ; HIV Infections/epidemiology* ; Hepacivirus ; Hepatitis C/epidemiology* ; Humans ; Male ; Prevalence ; Risk Factors ; Syphilis/epidemiology*

Objective:To compare the efficacy of double mini locking plate and anatomical locking plate in the treatment of comminuted olecranon fracture.Methods:The clinical data of 46 patients who underwent comminuted olecranon fracture in the Xi′an Honghui Hospital Affiliated to Xi′an Jiaotong University from March 2017 to May 2020 were analyzed retrospectively. Among them, 21 cases were treated with double mini locking plate (double plate group) and 25 cases with anatomical locking plate (single plate group). The operation time, patient satisfaction, range of motion, return to work time, soft tissue stimulation to remove internal fixation, Mayo elbow performance score (MEPS), disabilities of arm, shoulder and hand score (DASH) of the two fixation methods were statistically compared. Measurement data with normal distribution were represented as ( ± s), and comparison between groups was conducted using the t test. Comparison between groups of count data was conducted using the chi-square test or Fisher exact probability. Results:All 46 patients were followed up for to (19.17±2.79) months. All fractures healed after operation. There was no significant difference in operation time, range of motion, patient satisfaction, MEPS and DASH scores among the two groups( P>0.05). The time of returning to work was (8.47±2.13) weeks in the double plate group and (9.78±1.98) weeks in the single plate group, and the difference was statistically significant ( P< 0.05). There were 9 cases of internal fixation due to soft tissue stimulation, 1 cases in double plate group and 8 cases in single plate group, and the difference was statistically significant ( P<0.05). Conclusions:Compared with anatomical locking plate, the treatment of olecranon fracture with double mini locking plate can effectively reduce soft tissue stimulation and promote patients to return to work early, and the operation time is not significantly prolonged, and the biomechanical advantage is obvious, the clinical effect is satisfactory and the postoperative function is good, so it is an effective treatment.

Objective:To investigate the risk factors for cerebral injury in survivors of twin-to-twin transfusion syndrome (TTTS) after fetoscopic laser occlusion of chorioangiopagous vessels(FLOC) and to analyze the neurodevelopmental outcomes at 12 months of corrected age.Methods:A total of 136 cases of TTTS receiving FLOC in the Third Affiliated Hospital of Zhengzhou University from May 2018 to August 2021 were retrospectively selected as the FLOC group, and the survivors were followed up. Neurological development at 12 months of corrected age was assessed using the Griffiths mental development scales-Chinese (GDS-C) from five dimensions with locomotor, personal-social, hearing and language, hand-eye coordination and performance subscales. Eighty-eight fetuses of TTTS pregnancies receiving expectant treatment or amniotic fluid reduction were selected as the non-FLOC group. The perinatal mortality and the incidence of cerebral injury in the two groups were compared, as well as the incidence of cerebral injury between patients undergoing Solomon surgery and selective laser surgery in the FLOC group. Generalized estimating equations were used to analyze the risk factors for neonatal cerebral injury after FLOC and the factors influencing general developmental quotient score at the corrected age of 12 months. Chi-square test, t-test, and Mann-Whitney U test were used for statistical analysis. Results:(1) The perinatal mortality rate in the FLOC group was lower than that in the non-FLOC group [14.7% (20/136) vs 26.1% (23/88), χ 2=4.50, P=0.034]. There was no statistical significance in the incidence of neonatal cerebral injury between the two groups [18.7% (23/123) vs 21.8% (17/78), χ 2=0.29, P=0.592], but the incidence of severe cerebral injury in the FLOC group was lower than that in the non-FLOC group [6.5% (8/123) vs 15.4% (12/78), χ 2=4.20, P=0.040]. (2) In the FLOC group, there was no significant difference in the incidence of cerebral injury between donors and recipients, or between Solomon surgery and selective laser surgery [16.4% (10/61) vs 21.0% (13/62), χ 2=0.42; 20.0% (9/45) vs 17.9% (14/78), χ 2=0.08; both P>0.05]. (3) Multivariate analysis showed that neonatal asphyxia ( OR=7.04, 95% CI: 1.45-34.20, P=0.016) and higher preoperative TTTS stage ( OR=2.05, 95% CI: 1.10-3.82, P=0.023) were risk factors for neonatal cerebral injury. (4) Fifty-two cases were successfully followed up at the corrected age of 12 months, and the incidence of developmental delay in at least one dimension was 34.6% (18/52). Developmental delay was mainly manifested in locomotor skills and language, accounting for 26.9% (14/52) and 11.5% (6/52). No significant difference in Z value was found between recipients and donors in each dimension (all P>0.05). Solomon surgery, larger gestational age at operation and low birth weight were related to low general developmental quotient score (95% CI:－11.71 to－0.23，－1.99 to－0.47，0.00-0.01，respectively，all P<0.05). Conclusions:The occurrence of cerebral injury in TTTS survivors after FLOC is related to preoperative TTTS staging and intrapartum neonatal asphyxia. Neurodevelopment of survivors is related to birth weight and gestational age at surgery, and there is a higher incidence of mild developmental delay at corrected age of 12 months.

OBJECTIVE: To investigate whether β-globin gene 3'UTR+101G>C (HBB:c.*233G>C) variant has genetic effect and provide basis for gene diagnosis and genetic counseling. METHOD: Whole blood cell analysis and capillary zone electrophoresis (CZE) were used to analyze the hematological indexes. The most frequent 23 mutations in southern Chinese individuals were routinely measured by PCR-flow fluorenscence immunmicrobeads assay. Sanger sequencing was used to detect the other variants of β-globin gene (HBB). RESULTS: In 463 cases, a total of 7 cases with HBB:c.*233G>C variant were detected, among them 4 cases carried other pathogenic variants of HBB gene (2 cases were in trans, 2 cases were in cis), who had typical hematological characteristics of mild β-thalassemia, and 3 cases also carried abnormal hemoglobin variation, but did not have hematological characteristics of β-thalassemia. CONCLUSION The study shows that HBB:c.*233G > C variant has no obvious genetic effect and should be a benign polymorphism.
3' Untranslated Regions ; Hemoglobins, Abnormal/genetics* ; Humans ; Mutation ; beta-Globins/genetics* ; beta-Thalassemia/genetics*