Objective:To analyze the clinical characteristics and genetic basis of a male patient with primary infertility caused by Acephalic spermatozoa syndrome.Methods:A patient who had presented at the Henan Provincial People′s Hospital on October 1, 2022 was selected as the study subject. Clinical data and results of laboratory exams and sperm electron microscopy were collected. The patient was subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing and pathogenicity analysis.Results:WES revealed that the patient has harbored compound heterozygous variants of the PMFBP1 gene, namely c. 853del (p.Ala285Leufs*24) and c. 1276A>T (p.Lys426X), which were both unreported previously. Sanger sequencing suggested that the c. 853del (p.Ala285Leufs*24) variant has derived from his deceased mother, whilst the c. 1276A>T (p.Lys426X) variant has derived from his father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+ PM2_Supporting+ PP4). Conclusion:The compound heterozygous variants of the PMFBP1 gene probably underlay the Acephalic spermatozoa syndrome in this patient. The discovery of the novel variants has also enriched the mutational spectrum of Acephalic spermatozoa syndrome.

Objective:To investigate the risk factors of adenomatous colorectal polyps in advanced stage.Methods:Retrospective cross-sectional study. A total of 400 hospitalized patients with colorectal polypectomy and pathological diagnosis of adenomatous polyps (Aps) were selected from December 2020 to December 2022 in Shenzhen Hospital of Beijing University of Chinese Medicine (Longgang), of which 107 patients with progressive adenomas and 293 patients with common adenomas were selected. General information of patients (name, gender, age, BMI), history of smoking, alcohol consumption, history of hypertension, history of diabetes mellitus, and results of 13C urea breath test were collected to analyze the risk factors for the development of adenomas in patients with progressive adenomas and their syndromic characteristics. Results:The distribution of male patients with advanced adenoma was significantly higher than that of common adenoma patients [70.09% (75/107) vs. 57.34% (168/293), P=0.021], and the ages were [(52.25±9.81) years vs. (48.41±10.23) years, P=0.001], BMI [(24.37±3.19) kg/m 2vs. (23.38±3.25) kg/m 2, P=0.007] significantly higher than those of ordinary adenoma patients. Intestinal damp-heat syndrome was the common witness type in both advanced and common adenomas, and the distribution of intestinal damp-heat syndrome in advanced adenomas was significantly higher than that in common adenomas [43.0% (46/107) vs. 32.1% (94/293); χ2=4.10, P=0.043]. The distribution of patients with alcohol drinking history in advanced adenomas was significantly higher than that in common adenomas [61.7% (66/107) vs. 39.3% (115/293); χ2=15.92, P<0.001]. The distribution of diabetic patients with advanced adenoma was significantly higher than that of common adenoma patients [29.9% (32/107) vs. 14.7% (43/293); χ2=19.94, P<0.001]. The infection rate of Hp in advanced adenoma patients was significantly higher than that in common adenoma patients [66.4% (71/107) vs. 44.7% (131/293); χ2=14.69, P<0.001]. Logistic regression analysis showed that age, BMI, male, intestinal damp-heat syndrome, drinking history, diabetes history and Hp infection were risk factors for the development of patients with progressive adenomas ( P<0.05 or P<0.01). Conclusion:Intestinal damp-heat syndrome is the key syndrome in patients with progressive adenoma, and age, BMI, male, history of alcohol consumption, history of diabetes mellitus and Hp infection are the risk factors for its development.

OBJECTIVE To study the relationship between serum CC type chemotactic factor 2(CCL2),CC type chemotactic factor 18(CCL18) and clinicopathological parameters and prognosis of patients with glottic carcinoma. METHODS A total of 168 glottic carcinoma patients admitted to Handan Central Hospital and Hebei Engineering University Affiliated Hospital from August 2015 to December 2018 were selected as the research subjects. The receiver operating characteristic(ROC) curve was used to determine the optimal cut-off points for serum CCL2 and CCL18. Based on this,patients were divided into CCL2 high expression group and low expression group,CCL18 high expression group and low expression group. The relationship between levels of serum CCL2 and CCL18 and clinical pathological parameters of glottic carcinoma patients was analyzed. Kaplan-Meier curve and Log Rank x2 test were used to analyze the 5-year disease-free survival rate of serum CCL2 high/low expression group and CCL18 high/low expression group. Cox regression model was used to analyze the influencing factors of glottic carcinoma prognosis,and the relationship between serum CCL2,CCL18 expression and tumor recurrence/metastasis was analyzed. RESULTS The optimal cut-off points for CCL2 and CCL18 calculated based on the ROC curve were 100.81 and 218.99 pg/ml,respectively. Compared with the low expression groups of CCL2 and CCL18,the high expression groups of CCL2 and CCL18 showed a significant increase in the proportion of T3-T4a,N1-N3 stages,and tumor low differentiation(P<0.05). Of the 168 glottic carcinoma patients,there were 160 patients followed up for 5 years and 8 patients lost for follow-up. There were 67 patients experienced recurrence or metastasis,and 39 patients died due to recurrence or metastasis. The tumor recurrence or metastasis rate was 41.88％(67/160),and the disease-free survival rate was 58.13％(93/160). Kaplan-Meier survival curve analysis showed that the 5-year disease-free survival rate of the high expression group of serum CCL2 and CCL18 was significantly lower than that of the low expression group of serum CCL2 and CCL18(P<0.05). Cox regression analysis showed that elevated T staging,cervical lymph node recurrence,elevated N staging,local recurrence,high expression of CCL2 and CCL18 were risk factors for poor prognosis in glottic carcinoma(P<0.05). For analysis the relationship between serum CCL2 and CCL18 expression and tumor recurrence or metastasis,it was found that when both CCL2 and CCL18 were highly expressed,the recurrence or metastasis rate was significantly higher than when both CCL2 and CCL18 were lowly expressed,CCL2 was lowly expressed and CCL18 was highly expressed,and CCL2 was highly expressed and CCL18 was lowly expressed,and the differences were statistically significant(x2=10.450,P=0.015). CONCLUSION The high expression of serum CCL2 and CCL18 in patients with glottic carcinoma is significantly correlated with T stage,N stage,tumor low differentiation,and poor prognosis.

Objective:To analyze the changes in plasma endothelin-1 (ET-1) concentrations in the patients with acute respiratory distress syndrome (ARDS).Methods:Fourteen patients with ARDS induced by trauma, 8 males and 6 females, aged 19-80 yr, were studied. The severity of ARDS was graded according to the Berlin definition of ARDS after admission to intensive care unit (ICU). Venous blood samples were obtained on 1st, 3rd and 5th days after admission to ICU, the plasma ET-1 concentrations were measured by radioimmunoassay, the pulmonary vascular permeability index (PVPI) was determined by PiCCO technique, and multiple organ dysfunction (MOD) score and lung injury score (LIS) were assessed. Spearman correlation of plasma ET-1 concentrations with MOD score, LIS and PVPI was analyzed.Results:MOD score, LIS, PVPI and plasma ET-1 concentrations were significantly decreased in mild ARDS patients ( n=5) as compared with moderate ARDS patients ( n=9, P<0.05). The plasma ET-1 concentration was positively correlated with MOD score, LIS and PVPI ( r=0.69, 0.76, 0.62, P<0.001). Conclusions:Plasma ET-1 concentrations can reflect the pulmonary vascular permeability and even the severity of the disease in the early stage of ARDS, so it is necessary to carry out dynamic monitoring in the patients.

Objective:To evaluate the role of aryl hydrocarbon receptor (AhR) in the down-regulation of Clara cell secretory protein (CCSP) expression during endotoxin-induced lung injury in rats.Methods:Twenty-four clean-grade healthy male Sprague-Dawley rats, aged 8 weeks, weighing 200-250 g, were divided into 4 groups ( n=6 each) using a random number table method: normal control group (group C), acute lung injury (ALI) group, ALI+ AhR antagonist group, and ALI+ vehicle group. Lipopolysaccharide(LPS) 1 mg/kg was intratracheally instilled to develop the model of lung injury, while the equal volume of normal saline was given instead in group C. At 2 h before LPS injection, AhR antagonist 6, 2′, 4′-trimethoxyflavone solution 5 mg/kg (diluted to 1 ml in dimethyl sulfoxide solution) was intraperitoneally injected in ALI+ AhR antagonist group, while dimethyl sulfoxide solution 1 ml was given in ALI+ vehicle group. The rats were sacrificed under anesthesia at 48 h after LPS administration. The left lung was lavaged and the broncho-alveolar lavage fluid (BALF) was collected for determination of the concentrations of CCSP by enzyme-linked immunosorbent assay, and the expression of CCSP in the bronchial epithelium in right lung tissues was determined by immunohistochemistry. Results:Compared with group C, the expression of CCSP in the bronchial epithelium was significantly down-regulated, and the concentrations of CCSP in BALF were decreased in the other three groups ( P<0.05 or 0.01). Compared with ALI group and ALI+ vehicle group, the histopathological injury was significantly reduced, the expression of CCSP in the bronchial epithelium was up-regulated, and the concentrations of CCSP in BALF were increased in ALI+ AhR antagonist group ( P<0.01). Conclusions:AhR partially mediates the down-regulation of CCSP expression during endotoxin-induced lung injury in rats.

  Objective  To understand the current status of surgical treatment for hemophilia osteoarthropathy (HO) in China.  Methods  Using an online questionnaire, select domestic hospitals that partici-pated in the compilation of the 'Guideline for perioperative management of hemophilia patients undergoing orthopaedic surgery in China ', in addition to members of the National Joint Surgery Group, and the Orthopedic Branch of the Chinese Medical Association for targeted investigation and analysis.  Results  A total of 17 domestic hospitals were included, all of which were general hospitals. Hospitals that started HO surgery treatment before 2000 accounted for 35.29%. A total of 3057 surgical cases of HO were reported by those hospitals. The most commonly performed surgical procedures were hip and knee joint replacement. The most commonly used coagulation factor replacement regimen was recombinant coagulation factor preparation. Ten hospitals reported finding patients with transfusion-related infectious diseases. Bleeding and hematoma formation were the most frequently reported surgical complications. Excessive length of hospital stay and high economic costs were the most frequently reported problems.  Conclusions  Surgical treatment for HO in 17 hospitals is mainly carried out in some large comprehensive medical centers in the eastern region. Compared with the patient base, the popularity and number of surgeries are still relatively insufficient. It is necessary to further standardize the treatment system by standardizing factor replacement and strengthening rehabilitation to improve surgical treatment outcomes.

Objective:To investigate the clinical outcomes of infertility patients with multiple morphological abnormalities of the sperm flagella (MMAF) caused by DNAH1 gene mutation after intracytoplasmic sperm injection (ICSI). Methods:A retrospective cohort study analyzed the clinical data and genetic test results of 39 MMAF infertility patients who were treated in the Center for Reproductive Medicine of Henan Provincial People's Hospital from February 2018 to January 2020. Twelve MMAF patients caused by DNAH1 mutations were acted as DNAH1 positive group and 27 MMAF patients with no DNAH1 mutations were acted as DNAH1 negative group. Totally 100 cases of infertility patients with normal sperm morphology and their spouses who were age-matched by both men and women for ICSI during the same period were selected as control group. The outcomes of assisted pregnancy treatment in the three groups were analyzed. Results:All 39 MMAF patients underwent whole-exome sequencing. Among them, 12 patients had DNAH1 gene mutations, 10 cases of compound heterozygous mutations and 2 cases of homozygous mutations, and the other 27 cases were not detected the currently known DNAH1 mutations. The patients of three groups were treated with ICSI, and the differences in the number of oocytes obtained and the number of M II oocytes in the DNAH1 gene positive group, DNAH1 gene negative group and control group were statistically significant (17.08±5.32, 9.59±3.98, 10.44±6.33, P=0.001; 14.58±5.18, 6.78±3.38, 8.32±5.31, P<0.001). There were no statistically significant differences in the embryo implantation rate, the clinical pregnancy rate, the embryo miscarriage rate and the live birth rate (all P>0.05). Among them, 12 couples of male infertility caused by DNAH1 mutation received a total of 12 cycles of oocyte extraction, forming 79 day 3 embryos, 12 times of the first fresh or frozen embryo transplantation, and 10 biological offspring were obtained. Conclusion:For patients with MMAF caused by DNAH1 gene mutation, ICSI can help them to give birth to their own offspring, and has a higher clinical pregnancy rate and live birth rate.

Objective:To investigate the clinical outcomes of infertility patients with multiple morphological abnormalities of the sperm flagella (MMAF) caused by DNAH1 gene mutation after intracytoplasmic sperm injection (ICSI). Methods:A retrospective cohort study analyzed the clinical data and genetic test results of 39 MMAF infertility patients who were treated in the Center for Reproductive Medicine of Henan Provincial People's Hospital from February 2018 to January 2020. Twelve MMAF patients caused by DNAH1 mutations were acted as DNAH1 positive group and 27 MMAF patients with no DNAH1 mutations were acted as DNAH1 negative group. Totally 100 cases of infertility patients with normal sperm morphology and their spouses who were age-matched by both men and women for ICSI during the same period were selected as control group. The outcomes of assisted pregnancy treatment in the three groups were analyzed. Results:All 39 MMAF patients underwent whole-exome sequencing. Among them, 12 patients had DNAH1 gene mutations, 10 cases of compound heterozygous mutations and 2 cases of homozygous mutations, and the other 27 cases were not detected the currently known DNAH1 mutations. The patients of three groups were treated with ICSI, and the differences in the number of oocytes obtained and the number of M II oocytes in the DNAH1 gene positive group, DNAH1 gene negative group and control group were statistically significant (17.08±5.32, 9.59±3.98, 10.44±6.33, P=0.001; 14.58±5.18, 6.78±3.38, 8.32±5.31, P<0.001). There were no statistically significant differences in the embryo implantation rate, the clinical pregnancy rate, the embryo miscarriage rate and the live birth rate (all P>0.05). Among them, 12 couples of male infertility caused by DNAH1 mutation received a total of 12 cycles of oocyte extraction, forming 79 day 3 embryos, 12 times of the first fresh or frozen embryo transplantation, and 10 biological offspring were obtained. Conclusion:For patients with MMAF caused by DNAH1 gene mutation, ICSI can help them to give birth to their own offspring, and has a higher clinical pregnancy rate and live birth rate.

Objective:To explore the safety and efficacy of renal arterial hypothermia perfusion in robot-assisted laparoscopic partial nephrectomy.Methods:The data of 11 patients with complex renal tumors admitted to our hospital from March 2020 to December 2021 were retrospectively analyzed. There were 7 males and 4 females. The patients’age was (64.64±13.56) years old.The median R. E.N.A.L. score was 8 (7, 9) points. Preoperative glomerular filtration rate (GFR) was (64.40±25.52) ml/min. All patients had a renal artery cold solution perfusion robot-assisted laparoscopic partial nephrectomy. 4℃ sodium lactate Ringer's solution was injected into the affected kidney by the catheter, which could provide the kidney a hypothermic state during the operation and protected the renal function during the long period of warm ischemia. The intraoperative data and postoperative complications were recorded. The data of postoperative renal function, routine urine test, urinary CT, preoperative and postoperative glomerular filtration rate (GFR) were analyzed.Results:The renal artery blocking time was (34.09±2.84) min during the surgery. The patients’ body temperature was (36.10±0.44) ℃. The surgical duration was (126.73±47.08) min. The intraoperative bleeding was (81.82±53.07) ml. There were no complications, such as urinary leakage, low body temperature, fever, etc. There was no significant difference between the 3-months postoperative GFR (59.06±25.67) ml/min and preoperative GFR ( P=0.636). Conclusions:For patients with complex renal tumors, renal arterial cold solution perfusion in robot-assisted laparoscopic partial nephrectomy can help obtain longer operative duration during hot ischemia, preserve renal function, and it provide a safe and feasible surgical method for patients.