Genotype-phenotype correlations, surgical selections, and postoperative complications of 5α-reductase 2 deficiency in 69 children with hypospadias / 亚洲男科学杂志(英文版)

5α-reductase 2 deficiency prevents testosterone from being converted to dihydrotestosterone, which causes abnormal urogenital sinus development. The aim of this study was to analyze the relationship between genotype-phenotype, surgical selections, and postoperative complications of 5α-reductase 2-deficient patients with hypospadias. We retrospectively evaluated the medical records of patients who were diagnosed with 5α-reductase 2 deficiency after genetic testing in the Department of Endocrinology and underwent initial hypospadias surgery in the Department of Urology in Beijing Children's Hospital, Capital Medical University (Beijing, China), from April 2007 to December 2021. A total of 69 patients were included in this study; the mean age at surgery was 34.1 months, and the average follow-up time was 54.1 months. Sixty children were treated with preoperative hormone stimulation (PHS) to promote penile growth. The average penis length and glans width were increased by 1.46 cm and 0.62 cm, respectively. The most frequent mutations were p.R227Q (39.1%, 54/138), p.Q6* (15.2%, 21/138), p.G203S (12.3%, 17/138), and p.R246Q (11.6%, 16/138). In 64 patients who were followed up, 43 had a one-stage operation and 21 had a staged operation, and there were significant differences in external masculinization score (EMS) ( P = 0.008) and the average number of operation required to cure ( P < 0.001) between one-stage and staged operations. PHS had a positive effect ( P < 0.001) on penile development. The p.R227Q mutation was associated with higher EMS and less severe hypospadias. One-stage surgery can be selected if conditions permit. The growth and development of children are acceptable in the long term, but penis growth remains unsatisfactory. Long-term complications of hypospadias should be considered during puberty.

Efficacy and safety of human chorionic gonadotropin combined with human menopausal gonadotropin and a gonadotropin-releasing hormone pump for male adolescents with congenital hypogonadotropic hypogonadism / 中华医学杂志(英文版)

BACKGROUND@#Compared to adult studies, studies which involve the treatment of pediatric congenital hypogonadotropic hypogonadism (CHH) are limited and no universal treatment regimen is available. The aim of this study was to evaluate the feasibility of human chorionic gonadotropin (hCG)/human menopausal gonadotropin (hMG) therapy for treating male adolescents with CHH.@*METHODS@#Male adolescent CHH patients were treated with hCG/hMG (n = 20) or a gonadotropin-releasing hormone (GnRH) pump (n = 21). The treatment was divided into a study phase (0-3 months) and a follow-up phase (3-12 months). The testicular volume (TV), penile length (PL), penis diameter (PD), and sex hormone levels were compared between the two groups. The TV and other indicators between the groups were analyzed using a t-test (equal variance) or a rank sum test (unequal variance).@*RESULTS@#Before treatment, there was no statistical difference between the two groups in terms of the biochemistry, hormones, and other demographic indicators. After 3 months of treatment, the TV of the hCG/hMG and GnRH groups increased to 5.1 ± 2.3 mL and 4.1 ± 1.8 mL, respectively; however, the difference was not statistically significant (P > 0.05, t = 1.394). The PL reached 6.9 ± 1.8 cm and 5.1 ± 1.6 cm (P  0.05, t = 0.314). After 9 to 12 months of treatment, the T level was higher in the hCG/hMG group. Other parameters did not exhibit a statistical difference.@*CONCLUSIONS@#The hCG/hMG regimen is feasible and effective for treating male adolescents with CHH. The initial 3 months of treatment may be a window to optimally observe the strongest effects of therapy. Furthermore, results from the extended time-period showed positive outcomes at the 1-year mark; however, the long-term effectiveness, strengths, and weaknesses of the hCG/hMG regimen require further research.@*TRIAL REGISTRATION@#ClinicalTrials.gov, NCT02880280; https://clinicaltrials.gov/ct2/show/NCT02880280.

Effect of Reduction in Iodine Content of Edible Salt on the Iodine Status of the Chinese Population / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>The aim of this study was to evaluate the impact of the revised Chinese National Standard GB26878-2011 'Iodine Content in Edible Salt' on the iodine status among the Chinese population.</p><p><b>METHODS</b>In 2011 and 2014, the probability proportionate to size sampling (PPS) was used in each Chinese province to obtain the representative data. In each sampling unit, school children aged 8-10 years and pregnant women were selected. Key indicators included urinary iodine concentration (UIC), thyroid volume (TV), and the iodine content in edible household salt.</p><p><b>RESULTS</b>The median urinary iodine concentration (MUIC) decreased between 2011 and 2014 from 238.6 to 197.9 µg/L in school-age children. The number of provinces with iodine excess decreased to zero. The proportion of children whose UIC was > 300 µg/L was 18.8% and decreased to 11% compared with 29.8% in 2011. There was no significant difference in UIC < 50 µg/L between 2014 (4.3%) and 2011 (3.7%) (P > 0.05). The MUIC among pregnant women in 2014 was more concentrated between 110 and 230 µg/L. The goiter rate among children aged 8-10 years was unchanged, both the goiter rate of 2011 and 2014 remaining below 5%, in view of the sustainable elimination of iodine deficiency disorders.</p><p><b>CONCLUSION</b>The National Standard GB26878-2011 'Iodine Content in Edible Salt' that was introduced in March 2012 resulted in an overall improvement in iodine status, reducing the risk of excessive iodine intake in the Chinese population.</p>

[Efficacy Comparison of Different Salvage Treatment Regimens for Patients with Refractory/Relapsed Acute Myeloid Leukemia].

OBJECTIVE: To compare the efficacy and safety of 3 different regimens, namely MAC, FLAG and CAG, as the re-induction chemotherapy for acute myeloid leukemia(AML) patients with primary induction failure and relapse. METHODS: The clinical data of 156 AML patients with primary induction failure and relapse, except patients with acute promyelocytic leukemia(APL), treated with any of the above 3 regimens in our center from January 2008 to April 2016 were analyzed retrospectively. According to the treatment regimens, 156 patients were divided into MAC group (n=60), FLAG group (n=45) and CAG group (n=51). The complete remission(CR), partial remissison(PR), overall survival(OS), disease-free survival(DFS) and adverse events during the treatment were analyzed, so as to compare and evaluate the efficacy and safety of the 3 different regimens. RESULTS: After 1 course of re-induction chemotherapy, CR in MAC group was significantly higher than that in FLAG and CAG group (55.4% vs 34.1% vs 34.0%)(P<0.05). The OS was not statistically significantly different among 3 groups (P>0.05) with a median OS of 11 months, 5.46 months and 10.2 months, respectively. The myelosuppression was the main adverse event with no significant difference among the groups(P>0.05). More patients treated with MAC regimen underwent febrile neutropenia (93.3% vs 86.7% vs 64.7%)(P<0.001). However, the incidence of fatal infections was not signicantly different among 3 groups(5% vs 8.9% vs 5.9%)(P>0.05). CONCLUSION: Compared with FLAG and CAG regimen, the MAC regimen can enable more AML patients with primary induction failure and refractory to achieve CR without increasing severe adverse events,therefore,this regimen may provide a opportunity for patients to recieve hematopoietic stem cell transplantation.

Characteristics of pulmonary ventilation volumes under different exercise intensity with time / 军事医学

Objective To observe the changes of the pulmonary ventilation(VE)volume under different exercise intensities along with time,and to explore the best time for measuring VE under different intensities of exercise.Methods Sixty-one young mals were selected as subjects,who engaged in exercise of different intensities on the cycle ergometer(20, 40, 60, 80, 100, 120, 140, 160, and 180 W).The duration of exercise of each intensity was 6 minutes,the cardiopulmonary function was detected using a portable instrument,and real time monitoring of VE changes was enforced. Results (1)For exercise of intensity 20 W, VE initially increased fast with time, but after 1 min,it ceased to rise and remained stable.There was no significant difference at 1 min and afterwards(P>0.05).(2)The case was the same with exercise of the intensity 40 and 60 W.(3)For intensities of 80,100,120,140,and 160 W,VE became stable at 3 min. (4)For exercise of intensity 180 W,VE became stable at 4 min.Conclusion The time taken for VE to achieve stability under different intensities is different,which is positively correlated with the intensity of exercise.The greater the intensity of exercise,the longer it takes to achieve stability.

Serum Thyroglobulin-A Sensitive Biomarker of Iodine Nutrition Status and Affected by Thyroid Abnormalities and Disease in Adult Populations / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To evaluate the usefulness of the thyroglobulin (Tg) level in adults as a nutritional biomarker of iodine status and to identify the factors related to the serum Tg level.</p><p><b>METHODS</b>A cross-sectional study was conducted in adult populations of areas differing in iodine nutrition from three provinces (Autonomous Region) in China. Serum levels of thyroid hormones and Tg as well as thyroid autoantibodies were measured. The thyroid volume and nodule were measured by ultrasound. A multivariate linear regression analysis was used to assess iodine intake and other indeterminate factors associated with the serum Tg level.</p><p><b>RESULTS</b>A total of 573 adults were recruited for this study. The serum Tg levels differed significantly among the three groups (22.27 μg/L, 9.73 μg/L and 15.77 μg/L in the excess, more-than-adequate, and deficient groups, respectively). The results of multivariate linear regression analysis indicate that excess and deficient iodine intake, goiter, thyroid nodule, hypothyroidism are significantly related with higher Tg level, and TgAb positivity is significantly related with lower serum Tg.</p><p><b>CONCLUSION</b>The serum Tg level reflects abnormal thyroid function and is a sensitive functional biomarker of iodine nutrition status.</p>

[Preliminary Clinical Efficiency of Autologous Peripheral Blood Mononuclear Cells for Treating Critical Limb Ischemia of Thromboangiitis Obliterans].

OBJECTIVE: To evaluate the long-term clinical effect of autologous peripheral blood mononuclear cells (PB-MNC) on critical limb ischemia (CLI) in patients with thromboangiitis obliterans (TAO) patients. METHODS: The clinical data of 22 patients with CLI caused by TAO from July 2004 to May 2013 were analyzed retrospectively, 22 patients were divided into 2 groups; out of them 12 cases in one group were treated with granulocyte colony-stimulating factor (G-CSF)-mobilized autologous peripheral blood mononuclear cells (auto-PBMNC group), 10 cases in another group received conservative treatment (CT group). The log-rank test was used to compare the long-term outcomes in auto-PBMNC group and CT group. RESULTS: The wound healing rate (P=0.016) and CLI-free rate (P=0.013) were significantly higher in PB-MNC group compared with that in CT group. No difference was found in amputation rates between the 2 groups (major amputation: P=0.361, minor and major amputation: P=0.867). No patients died or no serious adverse events occurred during the follow-up period. CONCLUSION: The auto-PBMNC therapy can significantly promote the wound healing, and protect against CLI in TAO patients, but the risk of amputation is not low in comparison with conservative treatment.

Comparison of endothelial differentiation capacity of adipose-derived stem cells and bone marrow mesenchymal stem cells from rats / 南方医科大学学报

<p><b>OBJECTIVE</b>To compared the differentiation capacity of rat adipose-derived stem cells (ASCs) and bone marrow mesenchymal stem cells (BMSCs) into endothelial cells.</p><p><b>METHODS</b>Rat BMSCs and ASCs were isolated, cultured and identified for cell surface markers using flow cytometry. The cell growth curves were drawn by CCK-8 assay, and the cells in active growth were induced for endothelial differentiation following standard protocols. On day 21 of induction, the cells were examined for mRNA expressions of endothelial cell specific markers CD31, KDR, and vWF using qPCR. Immunostaining was performed to observe the expression of CD31 on the cells. The induced cells were also tested for Dil-labeled acetylated low-density lipoprotein (ac-LDL) uptake ability. The tube-forming ability of the induced cells was verified on Matrigel.</p><p><b>RESULTS</b>We successfully isolated rat ASCs and BMSCs. Morphologically, ASCs were similar with BMSCs, both having long spindle-shaped and fibroblast-like morphology. Flow cytometry showed that both BMSCs and ASCs had high expressions of mesenchymal markers CD29 and CD90 and a low expression of hematopoietic cell surface markers CD45. CCK-8 assay showed that ASCs proliferated more quickly than BMSCs. The cells with induced endothelial differentiation exhibited increased levels of CD31, KDR, and vWF mRNA expressions and immunofluorescent staining identified CD31 antigen expression on the cell membrane. Fluorescence microscopy revealed red fluorescence in the induced cells suggesting uptake of Dil-Ac-LDL by the cells. The induced cells were capable of forming tube on Matrigel, confirming their identity of endothelial cells.</p><p><b>CONCLUSION</b>Both rat BMSCs and ASCs can be induced to differentiate into endothelial cells, but ASCs differentiate more quickly into endothelial cells and possess a stronger proliferation ability, suggesting its greater potential than BMSCs in future applications.</p>

Prevalence of chronic kidney disease and its risk factors in subjects with different glucose metabolism status / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the prevalence of chronic kidney disease (CKD) in subjects with different glucose metabolism status.</p><p><b>METHODS</b>Between January, 2015 and October, 2015, a total of 934 subjects without a previous diagnosis of diabetes visiting the Department of Endocrinology or Health Examination Center underwent oral glucose tolerance test (OGTT), which identified 266 subjects with normal glucose tolerance (NGT group), 243 pre-diabetic subjects, and 425 patients with diabetes mellitus group. The baseline characteristics and laboratory test data of the subjects were collected. The diagnosis of CKD was established for an eGFR <60 mL/min/1.73 m(2) or a ACR≥30 mg/g, and the prevalence of CKD were compared among the 3 groups. Logistic regression model was used to analyze the OR value of the risk factors of CKD.</p><p><b>RESULTS</b>The prevalences of CKD in NGT, pre-diabetic and diabetic groups were 10.2%, 26.3% and 32.5%, respectively. Pairwise comparisons showed that the prevalence of CKD was significantly higher in pre-diabetic group (P<0.001, OR=3.17, 95% CI 1.94-5.17) and diabetic group (P<0.001, OR=4.27, 95% CI 2.72-6.65) than in NGT group, and was comparable between the pre-diabetic and diabetic groups (P=0.115, OR=1.35, 95% CI 0.95-1.91). Logistic regression analysis, after adjustment for age, gender, blood pressure, hypertension, blood lipids and uric acid, showed that pre-diabetes (OR=2.03, P=0.044) and diabetes mellitus (OR=2.22, P=0.016) were independently associated with CKD.</p><p><b>CONCLUSION</b>Glucose metabolism status has a significant independent impact on the incidence of CKD, suggesting the importance of early detection of pre-diabetes and timely interventions in pre-diabetic subjects in prevention CKD.</p>

Application value of high-frequency ultrasound on the diagnosis of rotator cuff tears / 中国骨伤

<p><b>OBJECTIVE</b>To study the diagnostic value of high frequency ultrasound in diagnosing rotator cuff tears.</p><p><b>METHODS</b>Total 37 patients (37 shoulders) with rotator cuff tears were detected by ultrasound, MRI examination and arthroscopy retrospectively. Among the patients,21 patients were male and 16 patients were female. The average age was 64 years old (ranged, 51 to 75 years old). High frequency ultrasonography and MRI were applied to exam the shoulder under the standardizeds to point types and compare with arthroscopy results.</p><p><b>RESULTS</b>Thirty-two shoulders were diagnosed as rotator cuff injury by ultrasound, and 5 shoulders were detected as normal rotator cuff by ultrasound. Twenty-nine shoulders were diagnosed as rotator cuff injury by MRI, and 8 shoulders were detected as normal rotator cuff by MRI. Thirty-three shoulders were diagnosed as rotator cuff injury during the operation, and 4 shoulders were regarded as rotator cuff during the operation. The sensitivity of ultrasound diagnosis was 93.4% (31/33), and specific degree was 75.0%(3/4). The sensitivity of MRI diagnosis was 87.5% (28/32), and specific degree was 80.0% (4/5).</p><p><b>CONCLUSION</b>High frequency ultrasound in the diagnosis of rotator cuff tears injuries has a high sensitivity and specificity. High frequency ultrasound can be used as a routine method to diagnose rotator cuff tears injuries.</p>

[Analysis the advantage of autologous mobilized peripheral blood mononuclear cells transplantation on lower limbs ischemia disease].

OBJECTIVE: To analyze the efficacy and its correlation with species of transplant cells of autologous mobilized peripheral blood (PB) mononucleated cells (MNCs) transplantation on 59 patients with lower limbs ischemia. METHODS: Fifty-nine patients were evaluated with symptoms scores and after that their PBMNCs were mobilized and collected and then injected into the ischemic area at equal distance. They effectiveness and scores were evaluated at 7th day and 4th month after therapy. The correlation of CD34(+) cells and of MNCs with effectiveness was analysed respectively, and formula for correlations between them and effectiveness was calculated. RESULTS: After MNCs injection, the effectiveness was observed both at 7th day and 4th month. The correlation of MNCs with effectiveness was stronger than that of CD34(+) cells (the effectiveness was represented by nimodipine value), According to the formula of nimodipine value, the value of the latter = 0.484 + 1.055 × CD34(+) cells number and the former = 0.288 + 0.401 × MNCs number with a correlation coefficient of R = 0.461 (P = 0.047) and R = 0.473 (P = 0.000) respectively. CONCLUSION: Autologous mobilized PBMNCs number is a better indicator for effectiveness than CD34(+) cells number.

[Transplantation of autologous peripheral blood stem cells for the treatment of lower limb arteriosclerosis obliterans].

OBJECTIVE: To evaluate the clinical efficacy of mobilized autologous peripheral blood stem cells (PBSC) transplantation in a 48 years old patient with lower limb arteriosclerosis obliterans (ASO). METHODS: rhG-CSF 600 micro g/d for 5 days to mobilize stem cells. On the fifth day, PBSC were collected with a Version 4 blood-cells separator. Three hours late, the PBSC were intramuscularly injected into the ischemic areas of the two lower limbs (3 x 10(9) cells per limb). The clinical and laboratory findings were monitored every week for 3 months. Forty-four days after the implantation, left lower limb with severe ASO was given an additional implantation of the same number of cells as the first time. RESULTS: The peripheral blood CD(34)(+) cells were increased from 0.18% to 0.75% after 5 days of rhG-CSF mobilization. Three months after the first stem cell transplantation, severe pain lameness, local cool-feeling and ulcer were improved, and ABI increased from 0.49, 0.69 to 0.50, 0.85, the amplitude of blood flow and laser Doppler blood perfusion were also significantly improved (P < 0.01). At the same time, digital subtraction angiographic scores for new collateral vessel formation were showed as + 3(rich). No related complication or adverse effect were observed during the 3-month observation. CONCLUSION: Transplantation of mobilized autologous PBSC might be a simple, safe, and effective method for the treatment of ASO.