Interpretable machine learning models for predicting clinical pregnancies associated with surgical sperm retrieval from testes of different etiologies: a retrospective study.

BACKGROUND: The relationship between surgical sperm retrieval of different etiologies and clinical pregnancy is unclear. We aimed to develop a robust and interpretable machine learning (ML) model for predicting clinical pregnancy using the SHapley Additive exPlanation (SHAP) association of surgical sperm retrieval from testes of different etiologies. METHODS: A total of 345 infertile couples who underwent intracytoplasmic sperm injection (ICSI) treatment with surgical sperm retrieval due to different etiologies from February 2020 to March 2023 at the reproductive center were retrospectively analyzed. The six machine learning (ML) models were used to predict the clinical pregnancy of ICSI. After evaluating the performance characteristics of the six ML models, the Extreme Gradient Boosting model (XGBoost) was selected as the best model, and SHAP was utilized to interpret the XGBoost model for predicting clinical pregnancies and to reveal the decision-making process of the model. RESULTS: Combining the area under the receiver operating characteristic curve (AUROC), accuracy, precision, recall, F1 score, brier score, and the area under the precision-recall (P-R) curve (AP), the XGBoost model has the best performance (AUROC: 0.858, 95% confidence interval (CI): 0.778-0.936, accuracy: 79.71%, brier score: 0.151). The global summary plot of SHAP values shows that the female age is the most important feature influencing the model output. The SHAP plot showed that younger age in females, bigger testicular volume (TV), non-tobacco use, higher anti-müllerian hormone (AMH), lower follicle-stimulating hormone (FSH) in females, lower FSH in males, the temporary ejaculatory disorders (TED) group, and not the non-obstructive azoospermia (NOA) group all resulted in an increased probability of clinical pregnancy. CONCLUSIONS: The XGBoost model predicts clinical pregnancies associated with testicular sperm retrieval of different etiologies with high accuracy, reliability, and robustness. It can provide clinical counseling decisions for patients with surgical sperm retrieval of various etiologies.

Creating machine learning models that interpretably link systemic inflammatory index, sex steroid hormones, and dietary antioxidants to identify gout using the SHAP (SHapley Additive exPlanations) method.

Background: The relationship between systemic inflammatory index (SII), sex steroid hormones, dietary antioxidants (DA), and gout has not been determined. We aim to develop a reliable and interpretable machine learning (ML) model that links SII, sex steroid hormones, and DA to gout identification. Methods: The dataset we used to study the relationship between SII, sex steroid hormones, DA, and gout was from the National Health and Nutrition Examination Survey (NHANES). Six ML models were developed to identify gout by SII, sex steroid hormones, and DA. The seven performance discriminative features of each model were summarized, and the eXtreme Gradient Boosting (XGBoost) model with the best overall performance was selected to identify gout. We used the SHapley Additive exPlanation (SHAP) method to explain the XGBoost model and its decision-making process. Results: An initial survey of 20,146 participants resulted in 8,550 being included in the study. Selecting the best performing XGBoost model associated with SII, sex steroid hormones, and DA to identify gout (male: AUC: 0.795, 95% CI: 0.746- 0.843, accuracy: 98.7%; female: AUC: 0.822, 95% CI: 0.754- 0.883, accuracy: 99.2%). In the male group, The SHAP values showed that the lower feature values of lutein + zeaxanthin (LZ), vitamin C (VitC), lycopene, zinc, total testosterone (TT), vitamin E (VitE), and vitamin A (VitA), the greater the positive effect on the model output. In the female group, SHAP values showed that lower feature values of E2, zinc, lycopene, LZ, TT, and selenium had a greater positive effect on model output. Conclusion: The interpretable XGBoost model demonstrated accuracy, efficiency, and robustness in identifying associations between SII, sex steroid hormones, DA, and gout in participants. Decreased TT in males and decreased E2 in females may be associated with gout, and increased DA intake and decreased SII may reduce the potential risk of gout.

Interpretable machine learning framework to predict gout associated with dietary fiber and triglyceride-glucose index.

BACKGROUND: Gout prediction is essential for the development of individualized prevention and treatment plans. Our objective was to develop an efficient and interpretable machine learning (ML) model using the SHapley Additive exPlanation (SHAP) to link dietary fiber and triglyceride-glucose (TyG) index to predict gout. METHODS: Using datasets from the National Health and Nutrition Examination Survey (NHANES) (2005-2018) population to study dietary fiber, the TyG index was used to predict gout. After evaluating the performance of six ML models and selecting the Light Gradient Boosting Machine (LGBM) as the optimal algorithm, we interpret the LGBM model for predicting gout using SHAP and reveal the decision-making process of the model. RESULTS: An initial survey of 70,190 participants was conducted, and after a gradual exclusion process, 12,645 cases were finally included in the study. Selection of the best performing LGBM model for prediction of gout associated with dietary fiber and TyG index (Area under the ROC curve (AUC): 0.823, 95% confidence interval (CI): 0.798-0.848, Accuracy: 95.3%, Brier score: 0.077). The feature importance of SHAP values indicated that age was the most important feature affecting the model output, followed by uric acid (UA). The SHAP values showed that lower dietary fiber values had a more pronounced effect on the positive prediction of the model, while higher values of the TyG index had a more pronounced effect on the positive prediction of the model. CONCLUSION: The interpretable LGBM model associated with dietary fiber and TyG index showed high accuracy, efficiency, and robustness in predicting gout. Increasing dietary fiber intake and lowering the TyG index are beneficial in reducing the potential risk of gout.

Clinical heterogeneity and therapeutic options for idiopathic infantile hypercalcemia caused by CYP24A1 pathogenic variant.

OBJECTIVES: Infantile hypercalcemia-1 (HCINF1) is a rare disease caused by pathogenic variants in the CYP24A1 gene, resulting in the inability to metabolize active vitamin D. This leads to hypercalcemia and severe complications. CONTENT: On December 8th, 2022, a systematic literature search was conducted in PubMed, Wanfang, and CNKI using the keywords "hypercalcemia" and "CYP24A1". Data extraction included patient demographics, clinical presentation, treatment medications, and outcomes. The findings were synthesized to identify common patterns and variations among cases and to assess the efficacy of different therapies in reducing serum calcium. Our findings revealed two distinct peaks in the incidence of HCINF1 caused by CYP24A1 pathogenic variant. Kidney stones or renal calcifications were the most common clinical manifestations of the disease, followed by polyuria and developmental delay. Laboratory investigations showed hypercalcemia, elevated vitamin D levels, hypercalciuria, and low parathyroid hormone. Genetic analysis remains the only reliable diagnostic tool. Although there is no definitive cure for HCINF1, multiple drugs, including bisphosphonates, calcitonin, and rifampicin, have been used to control its symptoms. Blocking the production and intake of vitamin D is the preferred treatment option. SUMMARY AND OUTLOOK: Our review highlights the basic clinical and biochemical features of HCINF1 and suggests that targeted diagnostic and therapeutic strategies are needed to address the clinical heterogeneity of the disease. The insights gained from this study may facilitate the development of innovative treatments for HCINF1.

Successful treatment of hypercalcemia in a Chinese patient with a novel homozygous mutation in the CYP24A1 gene using zoledronic acid: a case report.

OBJECTIVES: To emphasize the significance of genetic mutations in idiopathic infantile hypercalcemia and the potential therapeutic effectiveness of zoledronic acid in managing hypercalcemia attributed to gene mutations. CASE PRESENTATION: A 1-year-old female infant was referred to our hospital. The patient developed hypercalcemia despite no vitamin D prophylaxis or intake. In the acute phase, conventional calcium-lowering treatments showed limited efficacy, while the administration of zoledronic acid demonstrated effectiveness in controlling hypercalcemia. Subsequently the patient maintained normal calcium levels via a low-calcium diet and avoiding vitamin D intake. Genetic testing confirmed a homozygous mutation (c.476G>C) in the CYP24A1 gene. CONCLUSIONS: Family screening and genetic counseling are crucial for early detection and prevention of hypercalcemia. This case emphasizes the importance of genetic mutations in disease development and the potential therapeutic efficacy of zoledronic acid in managing hypercalcemia attributed to gene mutations.

Effects of serum irisin, neuregulin 4, and weight management on obese adolescent girls with polycystic ovary syndrome.

The study is aimed at investigating the association of serum irisin, neuregulin 4 (NRG4), and anti-müllerian hormone (AMH) with adolescent obesity with polycystic ovary syndrome (PCOS) and the efficacy of weight management interventions. Serum levels of irisin, NRG4, AMH, sex steroid hormone, body mass index (BMI), serum insulin, and C-peptide were measured in 52 obese adolescent girls with PCOS (PCOS group) and 43 obese adolescent girls without PCOS (non-PCOS group). The levels of AMH, NRG4, serum irisin, sex steroid hormones, BMI, serum insulin, and C-peptide were evaluated in obese PCOS girls before and after one year weight management. The levels of AMH, serum insulin, NRG4, and total testosterone of PCOS group were significantly higher than those of non-PCOS group. On the contrary, serum irisin and serum C-peptide in PCOS group were significantly lower than that in non-PCOS group. The levels of fat mass, percent body fat, total testosterone, AMH, NRG4, and serum insulin in the obese girls with PCOS showed significant decreases compared with before weight management intervention. On the contrary, after one year of body weight management intervention, serum irisin and serum C-peptide was significantly increased. Adolescent obesity complicated with PCOS is significantly associated with glucose and lipid metabolism and sex steroid hormone disorders, but the exact pathophysiological and clinical features are highly variable. Weight management intervention can significantly improve the clinical symptoms and hematological indicators, serum irisin and NRG4 can be used as two essential biomarkers for evaluating weight management.

Comparison of the Effects of Different Testicular Sperm Extraction Methods on the Embryonic Development of Azoospermic Men in Intracytoplasmic Sperm Injection (ICSI) Cycles: A Retrospective Cohort Study.

BACKGROUND: The effects of different testicular sperm extraction methods on the embryonic development and clinical outcome of azoospermic men in intracytoplasmic sperm injection (ICSI) cycles have not been researched. Our goal was to evaluate the effect of different sperm retrieval methods used for patients with OA or NOA on the embryonic development and clinical outcomes during the ICSI cycles. METHODS: This was a retrospective cohort study. A total of 530 azoospermic patients who underwent 570 ICSI cycles met the study criteria. ICSI was performed using testicular sperm by TESA in 282 cycles (TESA group); ICSI with testicular sperm by mTESE was performed due to NOA in 90 cycles (mTESE group); ICSI with testicular sperm by MESA was performed in 198 cycles (MESA group). The embryonic development and clinical outcomes of the three groups were counted. RESULTS: The general characteristics of the three groups were comparable. Our findings showed that the three groups were matched in terms of infertility durations and age. The mean age and the mean BMI of the female partners were similar in the three groups. Also, our findings showed there were no significant differences in the three groups regarding day 3 of the menstrual cycle FSH and days of stimulation. The research results showed that the total dose of FSH and E2 on the HCG administration day was also not statistically different in the three groups. The number of oocytes retrieved had no significant differences in the three groups. However, the number of 2PNs per cycle and the number of cleavages per cycle were higher in the MESA group than in the other two groups; the TESA group and mTESE group were similar. The number of good quality D3 embryos and the number of good quality D5 embryos were significantly decreased in the mTESE group as compared to the other two groups. Good quality D3 embryos and the rate of good quality D5 embryos in the mTESE group were lower than those in the other two groups. Moreover, the clinical pregnancy rates of the TESA group (50.71%) and the MESA group (51.52%) were similar, but both were much higher than that of the mTESE group (32.22%). CONCLUSIONS: The mTESE provides a good clinical outcome for NOA patients with severe spermatogenic impairment, including the rate of good quality D3 embryos, the rate of good quality D5 embryos, and the clinical pregnancy rate. However, our data suggested that both the TESA and MESA groups had better embryonic development and clinical outcomes than the mTESE group.

Inhibitory effect of celecoxib on Cal-27 tongue squamous cell carcinoma cell proliferation / 口腔疾病防治

Objective@# To explore the inhibitory effect of celecoxib (CELE) on the proliferation of tongue squamous cell carcinoma Cal-27 cells and its mechanism.@*Methods@# A CCK-8 assay was used to investigate the cytotoxicity of different concentrations CELE(10, 20, 40, 60, 80, and 100 mol/L) at 24 and 48 h in Cal-27 cells. According to the concentration of CELE, samples were divided into a control group (0 μmol/L) and experimental groups (10, 20, and 40 μmol/L), and cell invasiveness was detected by the Transwell method. The expression levels of c-Myc and Cyclin D1 mRNA were detected with qPCR, and western blots were used to detect the expression of phosphate and tension homologue deleted on chromosome ten (PTEN), phospho-protein kinase B (p-AKT) (Thr308), c-Myc, cyclin D1 and other proteins in Cal-27 cells after 24 h of treatment with different doses of CELE (10, 20, and 40 μ mol/L) and after 6, 12, and 24 h of treatment with 40 μmol/L CELE.@*Results @# The different concentrations of CELE were able to inhibit the proliferation of Cal-27 cells, and the higher the concentration of CELE was, the more significant the inhibition of the proliferation of Cal-27 cells was. The cell survival rates of cells exposed to 40 μmol/L CELE were 80% and 75% after 24 and 48 h, respectively. In the four groups of patients, the number of invasive cells was compared, and the results in decreasing order were the control group, 10 μmol/L CELE, 20 μmol/L CELE, and 40 μmol/L CELE. The expression level of c-Myc, cyclin D1 mRNA and the protein in P-AKT (Thr308), c-Myc, and cyclin D1 significantly decreased and the expression of PTEN protein increased in the Cal-27 cells after administration of CELE at different concentrations. @*Conclusion@# CELE can inhibit the proliferation of Cal-27 cells, possibly through inhibition of the expression of proliferation signal factors, such as c-Myc and cyclin D1, by activating the PTEN signaling pathway.

[Impacts of different procedures of testicular sperm retrieval on testicular function and antisperm antibodies in azoospermia patients].

OBJECTIVE: To investigate the influence of different procedures of testicular sperm retrieval on the levels of serum inhibin B (INHB), antisperm antibodies (AsAb), follicle-stimulating hormone (FSH), and testosterone (T) in patients with azoospermia. METHODS: We randomly assigned 210 azoospermia patients to receive testicular sperm extraction (TESE, n = 50), testicular sperm aspiration (TESA, n = 56), testicular fine needle aspiration (TEFNA, n = 64), or microscopic TESE (micro-TESE, n = 40). We measured the levels of serum INHB, FSH, and T and the positive rate of AsAb before and at 1 and 3 months after surgery. RESULTS: Compared with the baseline, the levels of serum FSH at 1 and 3 months after surgery showed no statistically significant differences in the TESE (ï¼»8.51 ± 4.34ï¼½ vs ï¼»8.76 ± 3.07ï¼½ and ï¼»7.24 ± 3.32ï¼½ IU/L, P >0.05), TESA (ï¼»7.70 ± 2.72ï¼½ vs ï¼»7.90 ± 4.57ï¼½ and ï¼»8.04 ± 3.65ï¼½ IU/L, P >0.05), TEFNA (ï¼»6.04 ± 3.17ï¼½ vs ï¼»6.08 ± 2.70ï¼½ and ï¼»6.10 ± 3.32ï¼½ IU/L, P >0.05), or micro-TESE group (ï¼»6.59 ± 2.74ï¼½ vs ï¼»6.89 ± 1.78ï¼½ and ï¼»6.75 ± 2.57ï¼½ IU/L, P >0.05); the positive rate of AsAb (IgM) was significantly increased at 1 month in the TESE (0.00 vs 14.00%, P <0.05) and micro-TESE groups (2.50% vs 15.00%, P <0.05), while the serum T level markedly decreased in the two groups (ï¼»16.52 ± 6.25ï¼½ vs ï¼»9.25 ± 5.76ï¼½ nmol/L and ï¼»14.16 ± 5.45ï¼½ vs ï¼»8.23 ± 4.12ï¼½ nmol/L, P <0.05); the levels of serum INHB were remarkably reduced at 1 and 3 months in the TESE (ï¼»70.56 ± 23.17ï¼½ vs ï¼»42.63 ± 15.34ï¼½ and ï¼»44.05 ± 18.47ï¼½ pg/ml, P <0.05), TESA (ï¼»68.71 ± 14.74ï¼½ vs ï¼»40.55 ± 20.51ï¼½ and ï¼»42.11 ± 19.34ï¼½ pg/ml, P <0.05), TEFNA (ï¼»76.81 ± 27.04ï¼½ vs ï¼»46.31 ± 19.28ï¼½ and ï¼»48.32 ± 20.54ï¼½ pg/ml, P <0.05), and micro-TESE groups (ï¼»74.74 ± 28.35ï¼½ vs ï¼»45.27 ± 18.83ï¼½ and ï¼»47.64 ± 28.34ï¼½ pg/ml, P <0.05), but with no statistically significant differences among the four groups (P >0.05). CONCLUSIONS: Different procedures of testicular sperm retrieval have different impacts on the testicular function and AsAb in patients with azoospermia.

[Orchidopexy increases the levels of serum anti-Müllerian hormone and inhibin B in cryptorchidism patients].

OBJECTIVE: To investigate the levels of serum anti-Müllerian hormone (AMH) and inhibin B (INHB) in patients with unilateral cryptorchidism before and after orchidopexy. METHODS: This study included 58 cases of unilateral cryptorchidism treated by orchidopexy and 32 healthy controls. Before and at 6 months after surgery, we measured the length and circumference of the penis, the volume of the undescended testis, and levels of serum AMH and INHB. RESULTS: There were statistically significant differences between the unilateral cryptorchidism and healthy control groups in the levels of serum AMH (ï¼»102.80 ± 17.35 vs 108.76 ± 13.64ï¼½ ng/ml, P<0.05) and INHB (ï¼»70.24 ± 5.73ï¼½ vs ï¼» 77.72 ± 5.94ï¼½ pg/ml, P<0.05) at the baseline, but not at 6 months after orchidopexy (AMH: ï¼»109.76 ± 17.25ï¼½ vs ï¼»108.03 ± 14.13ï¼½ ng/ml, P>0.05; INHB: ï¼»75.76 ± 5.94ï¼½ vs ï¼»77.63 ± 5.99ï¼½ pg/ml, P>0.05). No remarkable differences were observed between the unilateral cryptorchidism and healthy control groups in the preoperative penile length (ï¼»2.05 ± 0.23ï¼½ vs ï¼»2.11 ± 0.22ï¼½ cm, P>0.05), penile circumference (ï¼»3.91 ± 0.23ï¼½ vs ï¼»3.99 ± 0.20ï¼½ cm, P>0.05) and volume of the undescended testis (ï¼»0.45 ± 0.02ï¼½ vs ï¼»0.46 ± 0.02ï¼½ ml, P>0.05), or in the postoperative penile length (ï¼»2.09 ± 0.23ï¼½ vs ï¼»2.16 ± 0.22ï¼½ cm, P>0.05), penile circumference (ï¼»4.00 ± 0.25ï¼½ vs ï¼»3.98 ± 0.19ï¼½ cm, P>0.05) and volume of the undescended testis (ï¼»0.45 ± 0.02ï¼½ vs ï¼»0.45 ± 0.02ï¼½ ml, P>0.05). Compared with the baseline, the cryptorchidism patients showed markedly increased levels of serum AMH (ï¼»102.80 ± 17.35ï¼½ vs ï¼»109.76 ± 17.25ï¼½ ng/ml, P<0.05) and INHB (ï¼»70.24 ± 5.73ï¼½ vs ï¼»75.76 ± 5.94ï¼½ pg/ml, P<0.05) after orchidopexy. CONCLUSIONS: Orchidopexy can elevate the levels of serum AMH and INHB and protect the testicular function of cryptorchidism patients.

[Impact of unilateral cryptorchidism on the levels of serum anti-müllerian hormone and inhibin B].

OBJECTIVE: To investigate the influence of unilateral cryptorchidism on the levels of serum anti-müllerian hormone (AMH) and inhibin B in children. METHODS: We enrolled 65 patients with unilateral cryptorchidism and 45 healthy children in this study. We measured the length and circumference of the penis, the testis volume in the cryptorchidism side, and the levels of serum AMH and inhibin B at the age of 6 and 12 months, respectively. RESULTS: Compared with the healthy controls, the patients with unilateral cryptorchidism showed significant decreases at 12 months in serum AMH (ï¼»108.06±12.40ï¼½ vs ï¼»103.26±17.57ï¼½ ng/ml, P<0.05) and inhibin B (ï¼»77.43±5.66ï¼½ vs ï¼»70.21±5.69ï¼½ pg/ml, P<0.05). No statistically significant differences were found in the length and circumference of the penis and the testis volume in the cryptorchidism side at 6 and 12 months (P>0.05), or in the levels of serum AMH and inhibin B at 6 months (P>0.05). CONCLUSIONS: Unilateral cryptorchidism affects the gonadal function of the patient, and orchiopexy should be timely performed in order to reduce its impact.

[Impact of chronic prostatitis/chronic pelvic pain syndrome on sperm DNA fragmentation and nucleoprotein transition].

OBJECTIVE: To investigate the impact of chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) on sperm DNA fragmentation and nucleoprotein transition. METHODS: Based on the recommended methods in the WHO Laboratory Manual for the Examination and Processing of Human Semen (5th ed), we conducted routine semen analysis for 65 CP/CPPS patients and 30 healthy men. We also analyzed the results of papanicolaou staining, sperm DNA fragmentation and sperm nucleoprotein transition. RESULTS: Compared with the healthy control males, the CP/CPPS patients showed significant decreases in sperm concentration ([134.05 +/- 99.80] vs [94.75 +/- 92.07]) x 10(6)/ml, P <0.05), the percentage of morphologically normal sperm ([7.26 +/- 2.28] vs [5.61 +/- 3.40]%, P <0.05) and sperm progressive motility ([59.18 +/- 16.06] vs [47.68 +/- 17.62]%, P<0.05), but dramatic increases in sperm DNA fragmentation ([22.92 +/- 11.51] vs [43.58 +/- 17.07%, P<0.01) and sperm nucleoprotein transition ([23.26 +/- 5.97] vs [32.14 +/- 8.79]%, P<0.01). CONCLUSION: CP/CPPS significantly reduces sperm quality and male fertility.

[Effects of obstructive sleep apnea hypopnea syndrome in children on multiple systems].

OBJECTIVE: Obstructive sleep apnea-hypopnea syndrome (OSAHS) may cause serious morbidities, such as systemic hypertension, diabetes, and cor pulmonale. However, currently no many reports on study of OSAHS in children are available. This study aimed to explore the effects of OSAHS on children's multiple systems. METHOD: A total of 89 cases of children who came to the Sleep Treatment Center in the authors' hospital from March 2009 to December 2010 with snoring were tested with overnight polysomnography (PSG). They were classified into mild OSAHS group (n = 59, mean age of 5.71, SD = 2.46) and moderate to severe group (n = 30, mean age of 5.30, SD = 2.73) based on the PSG results, and 100 healthy children were selected as the control group (n = 100, mean age of 6 years, SD = 2.98). Data including height, weight, body mass index and blood pressure, peripheral blood routine, blood lipids, glucose and insulin, electrocardiogram and echocardiography were collected. Patients' adenoid face and abnormal occlusion were also recorded. Comparisons of the data were made among those groups. RESULT: Mild OSAHS and moderate to severe group had significantly higher prevalence of adenoid face (23.7%, 26.7%), and abnormal occlusion (74.6%, 60.0%) than that in control group (0, 40%) (P < 0.05). There were no significant differences in terms of BMI between the OSAHS group and the control group, but the weight (kg) and height (cm) in the mild OSAHS group (23.3 ± 10.1, 114.9 ± 16.2) and moderate to severe group (21.9 ± 8.4, 110.8 ± 13.3) were lower than those of the control group (31.8 ± 10.1, 136.1 ± 15.1) (all P < 0.05). Compared with the control group, the level of HDL-C (mmol/L)and insulin (mU/L) in moderate and severe group decreased [(1.20 ± 0.30) vs. (1.40 ± 0.27), 2.79 (0.84 - 16.16) vs. 4.92 (0.76 - 16.80), P < 0.05], while the LDL-C (mmol/L) increased [(2.61 ± 0.75) vs. (2.32 ± 0.62), P < 0.05]. The red blood cell counts (× 10(12)/L) and the blood platelet counts (× 10(9)/L) in the mild OSAHS (4.93 ± 0.37, 292.92 ± 75.64) and moderate and severe OSAHS group (5.23 ± 0.22, 292.50 ± 63.05) were significantly higher in contrast to the control group (4.70 ± 0.31, 255.60 ± 69.12) (all P < 0.05), systolic blood pressure (mmHg) in mild group (98.54 ± 10.44) and moderate to severe group (99.13 ± 19.13) was significantly higher compared to control group (87.88 ± 11.37), and the heart rate (beats/min) in moderate to severe group (94.43 ± 10.64) was higher than those in control group (87.12 ± 16.20) (all P < 0.05). The mild OSAHS and moderate and severe OSAHS group had decreased right ventricular internal diameter [(14.24 ± 1.64) mm, (13.17 ± 2.07) mm ], increased main pulmonary artery diameter [(17.05 ± 3.33) mm, (16.33 ± 3.14) mm] and the thickness of right ventricular wall [(3.43 ± 0.26) mm, (3.57 ± 0.20) mm] compared to control group [ (16.10 ± 2.96) mm, (14.11 ± 2.52) mm, (3.32 ± 0.25) mm] (all P < 0.05). CONCLUSION: OSAHS in children may be associated with craniofacial malformations, and may contribute to slow growth and development, elevated blood viscosity and blood pressure, metabolic abnormalities, and change cardiac structure.

[Association of single nucleotide polymorphisms in the promoter region of the TLR9 gene with childhood atopic asthma].

OBJECTIVE: To investigate the distribution characteristics of the single nucleotide polymorphisms (SNPs) in the promoter region of the toll-like receptor 9 gene (TLR9) in Chinese Han children from Zhejiang province, and their associations with asthma susceptibility and phenotypes. METHODS: A case-control study was conducted. A total of 312 asthmatic children aged between 1.9 and 11.6 and 339 age matched healthy controls were enrolled in this study from April 2007 to November 2008. The -1486 C/T in rs187084 and -1237 C/T in rs5743836 loci of the TLR9 gene were genotyped by direct DNA sequencing of the PCR products. Serum levels of IFN gamma, IL-12 and IL-4 were detected by enzyme linked immunosorbent assay.Serum levels of total IgE were detected by chemiluminescence, and serum levels of antigen specific IgE antibodies were detected by fluoroenzymeimmunoassay. RESULTS: (1) The -1486 C/T polymorphism was identified in both groups. The genotype frequencies of TT, TC and CC at -1486 C/T were 41.0%, 44.3%, 14.7% in the healthy controls, and 38.8%, 48.4%, 12.8% in the asthmatic children. The -1237 C/T polymorphism was not detected in the population. (2) There were no statistically significant differences in the allele and genotype frequencies at the -1486 C/T locus between the two groups (P;>0.05). (3) Serum levels of IFN gamma and IL-4 differed significantly among the three genotypes at the -1486 C/T locus in asthmatic children (P<0.01). The CC genotype had the lowest levels of serum IFN gamma and the highest levels of serum IL-4 among the three genotypes. There were no significant differences in these cytokines among the healthy controls (P>0.05). No statistical differences of serum IL-12 were found among the three genotypes in the two groups (P>0.05). (4) There were no significant differences of total IgE (log-transformed) among the three genotypes in the asthmatic children (P>0.05). CONCLUSION: The -1237 C/T polymorphism of TLR9 gene was not detected in Chinese Han children in this study. The -1486 C/T polymorphism was associated with the levels of serum IFN gamma and IL-4 in children with asthma. However, there were no correlations between the -1486C/T polymorphism and serum IL-12 levels, total IgE levels or asthmatic susceptibility.