[Application of modified urethral separation method in artificial urethral sphincter implantation and its influence on intraoperative urethral pressure profilometry].

Objective: To explore the application of modified urethral separation method in artificial urethral sphincter (AUS) implantation in patients with stress urinary incontinence (SUI), and its influence on the results of urethral pressure profilometry. Methods: A prospective collection of clinical data was conducted on 25 patients with stress urinary incontinence who underwent modified urethral separation method in AUS implantation and underwent urethral pressure profilometry in Beijing Hospital, Beijing Jishuitan Hospital Affiliated to Capital Medical University and the Second Hospital Affiliated to Tianjin Medical University from March 2019 to June 2023. The improved urethral separation method was to borrow part of the white membrane tissue of the cavernous body while freeing the dorsal side of the cavernous body of the urethra. The circumference of the urethra, sleeve size, and urethral pressure were recorded, the patient's autonomous urinary control before and after surgery and the changes of the international consultation on incontinence questionnaire-short form (ICI-Q-SF) score, incontinence quality of life questionnaire (I-QoL) score, urinary frequency score, nocturia score were compared. Follow-up was conducted in the clinic or by telephone at 1, 3, 6, and 12 months after activation of the device, and once a year thereafter. Local skin status and urine control were assessed, residual urine volume was measured by ultrasound and subjective score scale was completed. Results: All patients were male, aged 27-85 (65.8±15.7) years old. The circumference of the cuff used in this study was 4.0 cm in 4 patients (16.0%), 4.5 cm in 16 patients (64.0%), 5.0 cm in 4 patients (16.0%), and 5.5 cm in 1 patient (4.0%). Among them, the urethral circumference matched the cuff size in 14 cases (56.0%), the urethral circumference was smaller than the cuff size in 4 cases (16.0%), and the urethral circumference was larger than the cuff size in 7 cases (28.0%). Preoperative urodynamic examination showed that the maximum urethral pressure (MUP) was (78.0±25.9) cmH2O, (1 cmH2O=0.098 kPa) and the maximum urethral closure pressure (MUCP) was (53.4±26.6) cmH2O. The MUP of AUS device in the inactivated state was (88.0±26.5) cmH2O, which was not significantly higher than that before operation (P>0.05). The MUCP was (68.2±24.5) cmH2O, which was significantly higher than that before operation (P<0.05). The MUP and MUCP of the AUS device in the activated state were (146.6±25.2) cmH2O and (123.0±28.3) cmH2O, which were significantly higher than those before surgery and in the inactivated state (both P<0.001). All patients in the group reached the social urinary control standards at the first month of device activation. During a follow-up period of 2-50 months, 22 patients (88.0%) used the initial AUS device and all met social urinary control standards. The AUS device was replaced in 1 case. One patient died of cerebrovascular accident. One patient removed the device due to complications. The number of pads [M (Q1, Q3)] used in 25 patients before and after operation was 4.5 (3.0, 6.5) and 1 (0, 1) respectively, with statistically significant differences (P<0.001). ICI-Q-SF score, I-QoL score, urinary frequency score and nocturia score of 25 patients were significantly improved after surgery (all P<0.05). The incidence of postoperative complications was 20.0% (5/25), including 2 cases of painless hematuria, 1 case of infection, 1 case of urethral erosion, and 1 case of dysuria. Except for one patient who experienced urethral erosion and had his sleeve removed, the remaining four patients regained social urination control with active support treatment, and no symptoms recurred until the last follow-up. Conclusion: The modified urethral separation method has no significant effect on urethral pressure in patients with SUI, and can increase the volume of peri-urethral tissue in the cuff, thereby reducing the risk of intraoperative urethral injury and the incidence of postoperative urethral erosion.

[Acute eosinophilic pneumonia presented with hemoptysis as the first manifestation].

We reported a case of 38-year-old man who was admitted with a 10-day history of hemoptysis. He had reported a significant increasing in tobacco consumption in the week prior to admission. Chest computed tomographic (CT) scans showed multiple ground-glass opacities in bilateral lung fields. The percentage of eosinophils in the bronchoalveolar lavage fluid was over 25%. Based on the patient's imaging findings and the predominant eosinophilia in the bronchoalveolar lavage, a diagnosis of acute eosinophilic pneumonia was made. Systemic corticosteroid therapy was initiated. Repeated CT scan showed the opacities were completely resolved afterwards. Compared with the previous case reports published in Pubmed, which included 234 patients with AEP, the present case described hemoptysis as the only manifestation in an AEP patient, indicating the diversity of clinical manifestations of AEP. Clinicians should consider the probability of AEP in patients with hemoptysis and pulmonary ground-glass opacities after acute tobacco exposure if the disease cannot be explained by other causes.

[Clinicopathological characteristics of gastric SMARCA4-deficient undifferentiated/rhabdoid carcinoma].

Objective: To investigate the clinicopathological features and immunohistochemical phenotypes of gastric SMARCA4-deficient undifferentiated carcinoma, and to discuss the daily diagnostics of this entity and analyze its prognosis. Methods: The cases of gastric SMARCA4-deficient undifferentiated carcinoma diagnosed at the Department of Pathology, Peking University Cancer Hospital, China from January 2010 to August 2022 were collected. The histological sections were reviewed, the immunohistochemical results and clinicopathological features were analyzed, and relevant literature was reviewed. Results: Pure foci of undifferentiated carcinoma were seen in 7 cases, and 1 case was accompanied by a moderately differentiated tubular adenocarcinoma component. Undifferentiated carcinoma foci showed similar sheet-like or solid diffuse growth pattern, medium-sized tumor cells characterized by 1-2 nucleoli, and abundant cytoplasm and rhabdoid appearance. The average patient age was 65±8 years. Six patients were male and 2 were female. Immunohistochemical staining showed that undifferentiated carcinoma of all 8 tumors were negative for SMARCA4 (BRG1). Among 7 patients who underwent SMARCA2 (BRM) and SMARCB1 (INI1) staining, 4 cases showed loss of BRM expression, 2 cases showed weakly positive staining, and 1 case was diffusely positive, but all 7 cases were diffusely strong positive for INI1. The neuroendocrine marker, synaptophysin, was weakly positive in 5 cases, while CgA and CD56 were negative in 8 cases. Ki-67 index was more than 70%. Two cases were mismatch repair deficient and showed the loss of MLH1/PMS2 expression, while 1 case showed only MSH2 loss. PD-L1 staining showed that combined positive score (CPS)≥1 in 4 cases (CPS ranging from 1 to 55) and CPS<1 in the other 3 cases. Four patients had clinical stage Ⅳ disease. Two of them died within 3 months after diagnosis. Conclusions: Gastric SMARCA4-deficient undifferentiated carcinoma/rhabdoid carcinoma is a rare group of highly malignant tumors with a poor prognosis. Loss of the core subunit of SWI/SNF complex may be associated with the development of dedifferentiated histological pattern and aggressive tumor progression, which may be more frequently accompanied with mismatch repair deficiency.

[Effect of modification of antihypertensive medications on the association of nitrogen dioxide long-term exposure and chronic kidney disease].

OBJECTIVE: To investigate the potential effect of modification of antihypertensive medications on the association of nitrogen dioxide (NO2) long-term exposure and chronic kidney disease (CKD). METHODS: Data of the national representative sample of adult population from the China National Survey of Chronic Kidney Disease (2007-2010) were included in the analyses, and exposure data of NO2 were collected and matched. Generalized mixed-effects models were used to analyze the associations between NO2 and CKD, stratified by the presence of hypertension and taking antihypertensive medications. The stratified exposure-response curves of NO2 and CKD were fitted using the natural spine smoothing function. The modifying effects of antihypertensive medications on the association and the exposure-response curve of NO2 and CKD were analyzed. RESULTS: Data of 45 136 participants were included, with an average age of (49.5±15.3) years. The annual average exposure concentration of NO2 was (7.2±6.4) µg/m3. Altogether 6 517 (14.4%) participants were taking antihypertensive medications, and 4 833 (10.7%) participants were identified as having CKD. After adjustment for potential confounders, in the hypertension population not using antihypertensive medications, long-term exposure to NO2 was associated with a significant increase risk of CKD (OR: 1.38, 95%CI: 1.24-1.54, P < 0.001); while in the hypertension population using antihypertensive medications, no significant association between long-term exposure to NO2 and CKD (OR: 0.96, 95%CI: 0.86-1.07, P=0.431) was observed. The exposure-response curve of NO2 and CKD suggested that there was a non-linear trend in the association between NO2 and CKD. The antihypertension medications showed significant modifying effects both on the association and the exposure-response curve of NO2 and CKD (interaction P < 0.001). CONCLUSION: The association between long-term exposure to NO2 and CKD was modified by antihypertensive medications. Taking antihypertensive medications may mitigate the effect of long-term exposure to NO2 on CKD.

Associations of hemoglobin and change in hemoglobin with risk of incident hip fracture in older men and women: the cardiovascular health study.

In a multi-site longitudinal cohort study, decreasing hemoglobin was associated with increased hip fracture risk in men. Anemia was associated with hip fracture in men and in African American women. Decreasing hemoglobin may be a marker of progressing bone fragility, making its serial measurement useful for fracture risk stratification. INTRODUCTION: Hematopoiesis and bone health are interdependent. Anemia has been associated with risk of fracture in humans. To further elucidate this relationship, we hypothesized that decreasing hemoglobin could indicate defective hematopoiesis and would also predict fracture risk. METHODS: We performed a prospective analysis from study baseline (1992) of the Cardiovascular Health Study, a multi-site longitudinal cohort study. A total of 4670 men and women, ages >65 years, who were able to consent and not institutionalized or wheelchair bound, had hemoglobin (Hb) measured in 1992. For 4006 subjects, Hb change from 1989 to 1992 was annualized and divided into sex-specific quartiles. Incident hip fractures were verified against Medicare claims data during a median follow-up of 11.8 years. RESULTS: Nested Cox proportional-hazard models estimated association of hip fracture with anemia (men Hb <13 g/dL, women Hb <12 g/dL) and separately, greatest Hb decrease (versus others). Anemia was associated with increased hip fracture risk in all men (HR 1.59; 95% CI 1.01-2.50) and African American women (HR 3.21; 95% CI 1.07-9.63). In men, an annualized Hb loss of >0.36 g/dL/year was associated with a higher risk of hip fracture (HR 1.67; 95% CI 1.10-2.54), which was lessened by anemia at the start of fracture follow-up (HR 1.53; 95% CI 0.99-2.39). CONCLUSIONS: Decreasing Hb may be an early marker for subsequent hip fracture risk in men, which may be less informative once an anemia threshold is crossed. Only African American women with anemia had increased hip fracture risk, suggesting a race difference in this relationship.

[Prediction of intensive care unit readmission for critically ill patients based on ensemble learning].

OBJECTIVE: To develop machine learning models for predicting intensive care unit (ICU) readmission using ensemble learning algorithms. METHODS: A publicly accessible American ICU database, medical information mart for intensive care (MIMIC)-Ⅲ as the data source was used, and the patients were selected by the inclusion and exclusion criteria. A set of variables that had the predictive ability of outcome including demographics, vital signs, laboratory tests, and comorbidities of patients were extracted from the dataset. We built the ICU readmission prediction models based on ensemble learning methods including random forest, adaptive boosting (AdaBoost), and gradient boosting decision tree (GBDT), and compared the prediction performance of the machine learning models with a conventional Logistic regression model. Five-fold cross validation was used to train and validate the prediction models. Average sensitivity, positive prediction value, negative prediction value, false positive rate, false negative rate, area under the receiver operating characteristic curve (AUROC) and Brier score were used as performance measures. After constructing the prediction models, top 10 predictive variables based on importance ranking were identified by the model with the best discrimination. RESULTS: Among these ICU readmission prediction models, GBDT (AUROC=0.858) had better performance than random forest (AUROC=0.827), and was slightly superior to AdaBoost (AUROC=0.851) in terms of AUROC. Compared with Logistic regression (AUROC=0.810), the discrimination of the three ensemble learning models was much better. The feature importance provided by GBDT showed that the top ranking variables included vital signs and laboratory tests. The patients with ICU readmission had higher mean arterial pressure, systolic blood pressure, diastolic blood pressure, and heart rate than the patients without ICU readmission. Meanwhile, the patients readmitted to ICU experienced lower urine output and higher serum creatinine. Overall, the patients having repeated admissions during their hospitalization showed worse heart function and renal function compared with the patients without ICU readmission. CONCLUSION: The ensemble learning based ICU readmission prediction models had better performance than Logistic regression model. Such ensemble learning models have the potential to aid ICU physicians in identifying those patients with high risk of ICU readmission and thus help improve overall clinical outcomes.

[Predicting prolonged length of intensive care unit stay via machine learning].

OBJECTIVE: To construct length of intensive care unit (ICU) stay (LOS-ICU) prediction models for ICU patients, based on three machine learning models support vector machine (SVM), classification and regression tree (CART), and random forest (RF), and to compare the prediction perfor-mance of the three machine learning models with the customized simplified acute physiology score Ⅱ(SAPS-Ⅱ) model. METHODS: We used medical information mart for intensive care (MIMIC)-Ⅲ database for model development and validation. The primary outcome was prolonged LOS-ICU(pLOS-ICU), defined as longer than the third quartile of patients' LOS-ICU in the studied dataset. The recursive feature elimination method was used to do feature selection for three machine learning models. We utilized 5-fold cross validation to evaluate model prediction performance. The Brier value, area under the receiver operation characteristic curve (AUROC), and estimated calibration index (ECI) were used as perfor-mance measures. Performances of the four models were compared, and performance differences between the models were assessed using two-sided t test. The model with the best prediction performance was employed to generate variable importance ranking, and the identified top five important predictors were pre-sented. RESULTS: The final cohort in our study consisted of 40 200 eligible ICU patients, of whom 23.7% were with pLOS-ICU. The proportion of the male patients was 57.6%, and the age of all the ICU patients was (61.9±16.5) years.Results showed that the three machine learning models outperformed the customized SAPS-Ⅱ model in terms of all the performance measures with statistical significance (P < 0.01). Among the three machine learning models, the RF model achieved the best overall performance (Brier value, 0.145), discrimination (AUROC, 0.770) and calibration (ECI, 7.259). The calibration curve showed that the RF model slightly overestimated the risk of pLOS-ICU in high-risk ICU patients, but underestimated the risk of pLOS-ICU in low-risk ICU patients. Top five important predictors for pLOS-ICU identified by the RF model included age, heart rate, systolic blood pressure, body tempe-rature, and ratio of arterial oxygen tension to the fraction of inspired oxygen(PaO2/FiO2). CONCLUSION: The RF algorithm-based pLOS-ICU prediction model had a best prediction performance in this study. It lays a foundation for future application of the RF-based pLOS-ICU prediction model in ICU clinical practice.

[Three dimensional nephrometry system for partial nephrectomy: Our initial exploration].

OBJECTIVE: To construct a preoperative evaluation system for partial nephrectomy using CT three-dimensional visualization technology and to explore its practical value. METHODS: The clinical data of the patients who underwent partial nephrectomy for renal tumors in Department of Urology, Peking University First Hospital were collected retrospectively. At the same time, the homogenized standard data of patients who underwent partial nephrectomy for renal tumors were collected in 16 clinical centers in China. The CT three-dimensional visualization system was applied (IPS system, Yorktal) to evaluate tumor anatomy, blood supply, perirenal fat and other information. The parameters were summarized to build a three-dimensional nephrometry system, on the basis of which virtual surgery design and intraoperative navigation were completed. RESULTS: A three-dimensional visualization image was established based on the enhanced CT urography. The nephrometry system included the longest diameter and volume of the tumor, proportion volume of tumor invading the parenchyma, maximum depth of the tumor invading the parenchyma, contact surface area, flatness of the tumor surface, renal segment where the tumor was located, vascular variation, and perirenal fat. The average two-dimensional diameter of the tumor was (2.78±1.43) cm, the average three-dimensional maximum diameter was (3.09±1.35) cm, and the average postoperative pathological size was (3.01±1.38) cm. The maximum tumor diameter in the three-dimensional image was significantly related to the prolonged renal artery clamping time and intra-operative blood loss (r=0.502, P=0.020; r=0.403, P=0.046). The three-dimensional and pathological tumor volume were (25.7±48.4) cm3 and (33.0±36.4) cm3, respectively (P=0.229). The tumor volume was significantly related to the intraoperative blood loss (r=0.660, P < 0.001). The proportion volume of the tumor invading into renal parenchyma was significantly related to the prolongation of renal artery clamping and the occurrence of postoperative complications (r=0.410, P=0.041; r=0.587, P=0.005). The tumor contact surface area and the presence of vascular variation did not show correlation with the perioperative data and postoperative complications. While the preoperative evaluation was completed, the reconstructed three-dimensional image could be zoomed, rotated, combined display, color adjustment, transparency, and simulated cutting on the Touch Viewer system. The process generally consisted of showing or hiding the tissue, adjusting the transparency of the interested area, rotating and zooming the image to match the position of the surgical patient. Together, these functions met the requirements of preoperative virtual surgery plan and intraoperative auxiliary navigation. CONCLUSION: Three-dimensional images can provide a more intuitive anatomical structure. The CT three-dimensional visua-lization system clearly displays tumor anatomical parameters, blood supply and perirenal fat. The three-dimensional nephrometry system for renal tumors can help predict the difficulty of partial nephrectomy and perioperative complications. Importing the reconstructed three-dimensional visualization image into the specified program or robot operating system can complete virtual surgery and intraoperative navigation, helping the surgeon to better grasp the surgical process. The indexes included in the nephrometry system and the score weights of each index need to be confirmed and perfected by multi-center study with large samples.

[The relationship of resilience with cognitive function in patients with first-episode schizophrenia].

Objective: To investigate the correlation between resilience and cognitive function in patients with schizophrenia. Methods: Fifty-nine patients with first-episode schizophrenia and 86 healthy controls were enrolled. Patients with schizophrenia were enrolled from the psychiatric outpatient and inpatient Department of the Third Affiliated Hospital of Sun Yat-sen University from September 2017 to January 2020, while healthy controls were recruited through advertising. The levels of resilience and cognitive function were compared between the two groups.Meanwhile, the partial correlation analysis of resilience and cognitive function of the two groups was performed. Results: There was no statistically significant difference in gender, marriage and age between the two groups (all P>0.05), and there were 39 males and 20 females with an average age of (23.8±7.4) years in the schizophrenia group, while 47 males and 39 females with an average age of (22.9±4.7) years in the healthy control group. However, there was a significant difference inyears of education between the two groups (P<0.05). The total score of resilience [(56.9±16.7) vs(68.0±14.4)] and scores ofthree factorsin patients with schizophrenia were significantly lower than that in healthy controls(all P<0.05). The total score of MATRICS Consensus Cognitive Battery (MCCB)[(23±12) vs (42±11)] and each subscale score in patients with schizophrenia were significantly lower than that in healthy controls(all P<0.05). Partial correlation analysis showed that the total score of resilience and tenacity were correlated with symbol coding of schizophrenia(partial correlation coefficients were 0.286, 0.289, respectively, both P<0.05). The total score of resilience and the scores of tenacity, strength and optimism were all correlated with emotion management ability of schizophrenia(partial correlation coefficients were 0.334, 0.271, 0.382, 0.308, respectively, all P<0.05). In the healthy controls, the total score of resilience, tenacity and optimism were correlated with symbol coding(partial correlation coefficients were 0.268, 0.225, 0.291, respectively, all P<0.05). Strength and optimism were correlated with Hopkins verbal learning test (HVLT)(partial correlation coefficients were 0.268, 0.225, respectively, both P<0.05). Strength was correlated with spatial span, continuous performance test(partial correlation coefficients were 0.244, 0.217, respectively, bothP<0.05). The total scores of resilience and tenacity, strength and optimism were correlated with emotional management ability(partial correlation coefficients were 0.306, 0.230, 0.286, 0.289, respectively, all P<0.05), while the total scores of resilience, strength and optimism were correlated with the total score of MCCB(partial correlation coefficients were 0.291, 0.359, 0.287, respectively, all P<0.05). Conclusion: The current study suggests that resilience and cognitive function of patients with first-episode schizophrenia areimpaired significantly. Resilience in patients with schizophrenia isrelated to partial neurocognitive function and emotion management ability in social cognitive function.

A New Mutation Genotype of K218T in Myosin-5 Confers Resistance to Phenamacril in Rice Bakanae Disease in the Field.

In 2017 and 2018, a total of 294 Fusarium fujikuroi isolates were collected from bakanae-diseased rice plants in Jinhua, Shaoxing, and Jiaxing in Zhejiang Province, China. Phenamacril sensitivity of these isolates was determined by the 50% effective concentration value or minimum inhibitory concentration methods. Our results indicated that the phenamacril resistance frequency of F. fujikuroi increased from 18% in 2017 to 47% in 2018, and rice plants infected with F. fujikuroi-resistant isolates could not be protected effectively with 50 mg/liter of phenamacril. Phenamacril-resistant F. fujikuroi isolates obtained from rice fields showed stable resistance, because their fitness levels (i.e., mycelial growth, sporulation, and pathogenicity) were similar to the phenamacril-sensitive isolates. In addition to the point mutation at codon 219 in the myosin-5 gene that conferred resistance to phenamacril, our results also showed another point mutation at codon 218 (AAG→ACG) in myosin-5 that also conferred resistance to phenamacril. In this study, we found rapid development and persistence of diversified genotypes of phenamacril resistance, highlighting the importance of proper use of phenamacril in rice fields. Our results may also help researchers develop new fungicides or new control strategies using combinations of different fungicides in the control of phenamacril-resistant F. fujikuroi isolates.

[A clinical analysis of 14 cases of prostatic stromal tumor of uncertain malignant potential].

OBJECTIVE: To investigate the clinical and pathologic characteristics, diagnosis, treatment, prognosis and survival of prostatic stromal tumor of uncertain malignant potential. METHODS: Overall 14 patients with prostatic stromal tumor of uncertain malignant potential were treated from October 2008 to April 2020, the patient age ranged from 27 to 78 years (mean 54 years). The disease duration was 1 to 180 months (mean duration of 46 months). The clinical manifestations mainly included urinary obstructive symptoms and urethral irritating symptoms. The tumors were located in the peripheral zone or the transition zone. Digital rectum examination indicated prostatic tumor. Serum prostatic specific antigen level was always normal or elevated. Transrectal ultrasonography and magnetic resonance imaging indicated prostatic tumor. Magnetic resonance imaging in showed large, round, well-defined masses, which were diffusely heterogeneous signal on T2 weighted imaging. Following the administration of intravenous contrast medium, the lesion had diffuse and heterogeneous enhancement. RESULTS: In the study, 3 cases underwent prostate biopsy, 2 cases underwent transurethral resection of the prostate, 9 cases underwent radical excision or transurethral resection of the prostate with definite diagnosis of pathologic features. Under the light microscope, the interstitial cells of stromal tumor of uncertain malignant potential were overgrowth and fusiform cells showed some degree of pleomorphism, nuclei with few mitotic figures, and necrosis was not often seen. Immunohistochemical staining showed that prostate specific antigen was negative, while vimentin was positive in the tumor tissue, CD34, progesterone receptor and smooth muscle actin were positive in the majority, and Ki67 positive index was 1%-20% (mean 6%). Twelve cases were followed-up, and the time of survival varied from 10 to 96 months (mean 65 months), two cases were lost to the follow-up, one case died of disease at the end of 10 months, nine cases were free of disease recurrence after surgery, two cases underwent more transurethral resection of the prostate due to local recurrence. CONCLUSION: STUMP is a very rare tumor of the specialized prostatic stroma with an unpredictable clinical behavior. The clinical manifestations, transrectal ultrasonography and magnetic resonance imaging are valuable for the diagnosis of prostatic stromal tumor of uncertain malignant potential. Its definite diagnosis depends on pathological examination. Up to now, early surgery and combined therapy are effective treatments for prostatic stromal tumor of uncertain malignant potential.

[Detection of EDA gene mutation and phenotypic analysis in patients with hypohidrotic ectodermal dysplasia].

OBJECTIVE: To detect the ectodysplasin A (EDA) gene mutation in patients with hypohidro-tic ectodermal dysplasia (HED), and to analyze the distribution pattern of missing permanent teeth and the systemic manifestation of HED patients with EDA gene mutation. METHODS: Twelve HED families were enrolled from clinic for genetic history collection, systemic physical examination and oral examination. Peripheral blood or saliva samples were collected from the probands and the family members to extract genomic DNA. PCR amplification and Sanger sequencing were utilized to detect the EDA gene variations, which were compared with the normal sequence (NM_001399.5). The functional impact of EDA gene variants was then evaluated by functional prediction of mutation, conservation analysis and protein structure prediction. The pathogenicity of each EDA gene variation was assessed according to the stan-dards and guidelines of the American College of Medical Genetics and Genomics (ACMG). The systemic phenotype and missing permanent tooth sites of HED patients with EDA gene mutations were summarized, and the missing rate of each tooth position was analyzed and compared. RESULTS: Eight out of twelve HED families were identified to carry EDA gene mutations, including: c.164T>C(p.Leu55Pro); c.457C>T (p.Arg153Cys); c.466C>T(p.Arg156Cys); c. 584G>A(p.Gly195Glu); c.619delG(p.Gly207Profs*73); c.673C>T(p.Pro225Ser); c.676C>T(p.Gln226*) and c.905T>G(p.Phe302Cys). Among them, c.164T>C(p.Leu55Pro); c.619delG(p.Gly207Profs*73); c.673C>T(p.Pro225Ser); c.676C>T(p.Gln226*) and c.905T>G(p.Phe302Cys) were novel mutations. The HED patients with EDA gene mutations in this study were all male. Our results showed that the average number of missing permanent teeth was 13.86±4.49, the average number of missing permanent teeth in the upper jaw was 13.14±5.76, the missing rate was 73.02%. And in the lower jaw, the average number of missing permanent teeth was 14.57±3.05, the missing rate was 80.95%. There was no significant difference in the number of missing teeth between the left and right sides of the permanent dentition (P>0.05). Specifi-cally, the maxillary lateral incisors, the maxillary second premolars and the mandibular lateral incisors were more likely to be missing, while the maxillary central incisors, the maxillary and mandibular first molars had higher possibility of persistence. CONCLUSION: This study detected novel EDA gene pathogenic variants and summarized the distribution pattern of missing permanent teeth of HED patients, thus enriched the variation and phenotype spectrum of EDA gene, and provided new clinical evidence for genetic diagnosis and prenatal consultation.

[Application of urethral pressure profilometry in artificial urinary sphincter implantation].

Objective: To investigate the changes of maximum urethral pressure (MUP) and maximum urethral closure pressure (MUCP) after artificial urethral sphincter (AUS) implantation and their prognostic value. Methods: The clinical data of patients who had undergone AUS implantation in multiple medical centers between March and July 2019 were retrospectively analyzed. Data of urethral pressure profilometry, pad usage, related scores and complications related to surgery were collected and compared. The primary endpoint was social continence (defined as 0-1 pad/d) 1 month after activation of the pump. Results: A total of five male patients were included in this study. Two underwent transurethral resection of the prostate for benign prostatic hyperplasia, two underwent radical prostatectomy for prostate cancer, and one underwent urethral reunion, urethral stricture dilatation and cystostomy due to trauma from traffic accident. All patients had different degrees of urinary incontinence. The results of preoperative urethral profilometry test showed that the MUP of five patients were 52, 53, 88, 32, and 66 cmH(2)O(1 cmH(2)O=0.098 kPa), respectively, and the MUCP were 17, 52, 62, 27, and 40 cmH(2)O, respectively. AUS implantation was performed. The intraoperative urethral pressure profilometry showed that the MUP were 53, 113, 50, 77, and 89 cmH(2)O in the inactivated state, and the MUCP were 50, 97, 31, 71, and 51 cmH(2)O, respectively. In the activated state, the MUP were 112, 174, 193, 121, and 120 cmH(2)O, and the MUCP were 109, 160, 175, 114, and 92 cmH(2)O, respectively. All patients met the social continence (0-1 pad/d) criterion. No complications were reported during the follow-up. Conclusions: The relationship between the range of intraoperative urethral pressure and the effect of urinary control can be gained by measuring the specific values of MUP and MUCP during AUS implantation and the post-operative effects, which provides as a data basis for standardizing AUS implantation.

[Correlation of the peripheral serum complement protein levels and cognitive function in first-episode drug-naive patients with schizophrenia].

Objective: To explore the role of peripheral serum complement protein in the pathogenesis of cognitive impairment by analyzing the correlation between peripheral serum levels of complement protein and cognitive function in first-episode drug-naive patients with schizophrenia. Methods: A total of 66 first-episode drug-naive schizophrenics (schizophrenia group) from the Third Affiliated Hospital of Sun Yat-sen University and 88 healthy volunteers (control group) were enrolled. Peripheral serum levels of complements (C3, C4 and CH50) were separately examined by liposome immunoassay and turbidimetric inhibition immunoassay. The MATRICS Consensus Cognitive Battery (MCCB) was used to assess the cognitive function. Results: Peripheral serum levels of C4, but not C3 and CH50, were significantly lower in patients with schizophrenia [0.20(0.16, 0.25) g/L] than those in the control group [0.23 (0.19, 0.27) g/L] (P<0.05). Moreover the peripheral serum levels of C3, C4 and CH50 were positively correlated with MCCB verbal fluency (r=0.258, r=0.283 and r=0.330, all P<0.05), and the peripheral serum levels of CH50 were negatively correlated with attention and alertness (r=-0.257, P<0.05). Conclusion: The decrease of peripheral serum complement C4 protein levels may be involved in the mechamism of cognitive impairment in schizophrenia.

[Pulmonary rehabilitation guidelines in the principle of 4S for patients infected with 2019 novel coronavirus (2019-nCoV)].

A recent epidemic of pneumonia cases in Wuhan China was caused by a novel coronavirus with strong infectivity, the 2019 novel coronavirus (2019-nCoV). The article provides the pulmonary rehabilitation (PR) methods in the principle of 4S (simple, safe, satisfy, save) for patients with pneumonia caused by the novel coronavirus, shows how to establish a ventilative and convectional PR environment to prevent the spread of virus through droplets, how to guide the patients to carry out PR, how to carry out respiratory muscle training, effective cough, expectoration, sneeze, general exercise, digestive function rehabilitation and psychological rehabilitation, and how to clean and disinfect the PR environment.

[The predictive value of ultrasonic measurement of the diaphragmatic thickening fraction combined with the maximal inspiratory pressure in mechanical ventilation patients].

Objective: To evaluate the value of the diaphragmatic thickening fraction (DTF) combined with the maximum inspiratory pressure (MIP) for the prediction of weaning success in mechanically ventilated patients. Methods: Patients admitted to the intensive care unit (ICU) of Yijishan Hospital of Wannan Medical College and on mechanical ventilation for 24 hours from June 2018 to April 2019 were selected as the study subjects. A low-level pressure support ventilation (PSV) method was applied to conduct a spontaneous breathing test (SBT) for 30 minutes after the patients met the screening conditions for clinical weaning; and the patients were weaned when they met the clinical weaning criteria. Before weaning, the patient's MIP was measured. The right hemidiaphragmatic excursion (DE) and the thickness of the diaphragm at the end of inspiration and at the end of exhalation were measured by ultrasound, and the DTF was calculated. The statistical relationship between the DTF, DE and MIP was analyzed. The predictive value for the success of weaning was calculated with the DTF, DE and MIP and was evaluated by the area under the receiver operating characteristic curve (AUC). Results: A total of 73 patients were included in this study, including 57 patients who were successfully weaned, and 16 patients who experienced failure. The DTF of the successful weaning group (35%, 8%) was significantly higher than that of the failed weaning group (25%±5%), and the difference was statistically significant (t=6.401, P<0.01). The MIP (34±9 cmH(2)O) in the successful weaning group was significantly higher than that in the failed weaning group (23±3 cmH(2)O), and the difference was statistically significant (t=7.186, P<0.01). The ROCs for the DTF, MIP, and diaphragmatic displacement were 0.907, 0.896, and 0.749, respectively. A DTF ≥ 27.78%, with a sensitivity of 92.98%, a specificity of 81.25%, and an AUC of 0.907 (95% CI: 0.816-0.963), was used as the standard to predict the success of weaning. An MIP>26.5 cmH(2)O, with a sensitivity of 80.7%, a specificity of 93.75%, and an AUC of 0.896 (95% CI: 0.803-0.955), was used as the standard to predict the success of weaning. The AUC of DTF ≥ 27.78% and MIP ≥ 26.5 cmH(2)O was 0.920 (95% CI:0.832-0.971), and the specificity increased to 87.7%, but the sensitivity was slightly reduced to 87.5%. Conclusions: The DTF and MIP play a crucial role in determining the appropriate time and predicting the outcome of weaning of mechanical ventilation patients. Compared with the DTF and MIP alone, the DTF combined with MIP greatly improved the accuracy of predicting successful weaning.

[Incidence and etiological analysis of abnormal cardiac uptake in patients underwent oncologic PET/CT imaging].

Objective: To investigate the incidence, location and etiology of abnormal cardiac uptake in patients underwent oncologic 18F-fluorodeoxyglucose positron emission tomography/computed tomography(PET/CT) imaging. Methods: The 18F-FDG PET/CT images of 2000 consecutive patients with suspected or diagnosed malignancy in Beijing Chaoyang Hospital from January 2014 to September 2016 were retrospectively analyzed. Fasting time was more than 12 hours before imaging, and fasting blood glucose level before 18F-FDG injection was less than 6.7 mmol/L. Focal uptake in the non-basal and non-papillary regions of the left ventricle, uptake in the right ventricle exceeding uptake in the left ventricle, and uptake in the atrium higher than that of the blood pool (when uptake of left ventricle was zero or low) were defined as abnormal, and all abnormal uptake was visually determined by experienced nuclear medicine physicians. General clinical data and the results of cardiac examination were collected to explore the incidence, location and etiology of cardiac diseases. Results: There were 138 patients with history of diabetes (6.90%), 228 patients with history of cardiovascular disease (11.40%) out of the 2 000 patients ((60.5±13.2) years, 1 117 male (55.85%)). The number and proportion of patients with malignancy, benign lesions, diseases of unknown etiology were 939 (46.95%), 484 (24.20%), 557 (28.85%), respectively. Abnormal cardiac uptake was detected in 145 patients (7.3%). The proportion of abnormal uptake in left ventricle, right ventricle and atrium was 52.4% (76 cases), 12.4% (18 cases), 35.2% (51 cases), respectively. Of the 76 individuals who had abnormal uptake in left ventricle, 25 cases (32.9%) were caused by coronary artery disease, and other causes included hypertrophic cardiomyopathy and myocardial damage caused by chemotherapy drugs, etc. Of the 18 cases who had abnormal uptake in right ventricle, 14 cases (14/18) were caused by pulmonary hypertension. In addition, 20 out of the 51 cases (39.3%) with abnormal uptake in atrium suffered from atrial fibrillation. Seventy-one patients with abnormal cardiac uptake (49.0%) had no clear manifestation and evidence of heart disease before imaging. Conclusions: The abnormal 18F-FDG uptake on oncologic PET/CT is not rare. The most common site of abnormal uptake is left ventricle, coronary artery disease, pulmonary hypertension and atrial fibrillation are common causes of abnormal 18F-FDG uptake.

Woven bone overview: structural classification based on its integral role in developmental, repair and pathological bone formation throughout vertebrate groups.

Cortical bone development is characterised by initial formation of woven bone followed by deposition of lamellar bone on the woven scaffold. This occurs in normal bone formation as an integral obligate self-assembly pattern throughout all vertebrate groups, with specific temporal and spatial features. It also occurs in repair bone, modified by the biophysical/mechanical environment, and in pathological bone, modified by the specific disorder and its severity. Two spatially distinct osteoblast cell populations synthesise woven and lamellar bone: mesenchymal osteoblasts surround themselves circumferentially with collagen in a random array to form woven bone; surface osteoblasts align themselves in a linear array on the woven bone surface (or adjacent lamellar bone) to synthesise parallel-fibred lamellar bone. Four specific stages of woven bone formation are defined: stage I, early differentiation of pre-osteoblasts from undifferentiated mesenchymal cells; stage II, mesenchymal osteoblasts surrounding themselves in a 360° arc with randomly oriented matrix fibres; stage III, woven matrix acting as a scaffold on which surface osteoblasts begin to synthesise bone in parallel-fibred lamellar conformation; stage IV, progressive relative diminution of woven bone in the woven bone/lamellar bone complex. Stages II and IV are further subdivided (in a, b and c) by shifting cell area/matrix area and woven bone/lamellar bone relationships. The under-appreciated biological significance of woven bone is that it initiates formation de novo at sites of no previous bone. This information allows for targeted assessment of molecular-biophysical mechanisms underlying woven bone formation and their utilisation for initiating enhanced bone formation.

Molecular Detection of QoI Resistance in Colletotrichum gloeosporioides Causing Strawberry Anthracnose Based on Loop-Mediated Isothermal Amplification Assay.

Anthracnose is one of the most common diseases in strawberry plants. Colletotrichum gloeosporioides is the major cause of anthracnose in China, including Zhejiang Province. Early, specific, reliable, and time-saving detection is urgently needed to prevent the further spread of C. gloeosporioides, guiding farmers to utilize chemicals to control anthracnose. In this study, we showed that the high resistance to pyraclostrobin, caused by a point mutation at codon 143 (GGT→GCT) in the cytochrome b gene of C. gloeosporioides was prevalent in the strawberry growing regions, and we developed a loop-mediated isothermal amplification (LAMP) assay as a detection method. Primer sets S0 and S4 could be used to specifically detect C. gloeosporioides isolates and the G143A mutations, respectively. A detection limit of 10-2 ng (10 pg), which is at least 10-fold more sensitive than conventional polymerase chain reaction, was achieved by the LAMP assay. Here, we utilized lateral-flow devices (LFDs), nitrocellulose membranes that can absorb nucleic acids, to acquire the total genomic DNA of strawberry plants within 2 min. The LFD membranes were used as DNA templates for the LAMP assays to accurately detect strawberry plants infected with C. gloeosporioides. This diagnostic method for strawberry anthracnose was accomplished within 1 h, including the sample preparation and LAMP assays. Collectively, we developed a sensitive and practical method for monitoring C. gloeosporioides and its quinone outside inhibitor-resistant mutants. The LAMP assay for detection of C. gloeosporioides in strawberry plants has great potential for rapid strawberry anthracnose surveillance and will provide farmers with advice on preventing C gloeosporioides at the early stages of strawberry development.

[The predicting value of the 8th edition of American Joint Committee on Cancer staging manual in mucinous breast cancer].

Objective: The current study aimed to evaluate the predictive performances of anatomic staging system (AS) and prognostic staging system (PS) proposed in the 8th edition American Joint Committee on Cancer (AJCC) staging manual in patients with pure mucinous breast cancer (PMBC). Methods: Clinicopathologic features and follow-up information were collected from a total of 3628 patients with PMBC. Breast cancer-specific survival (BCSS) were compared among patients in different stage groups. Likelihood ratio (LR) χ(2), Akaike information criterion (AIC) and Harrell's concordance index (C-index) were used to evaluate the predictive performances of AS and PS in PMBC. Results: In PMBC, BCSS was associated with tumor size (P=0.002), lymph node status (P=0.002), grade(P=0.003), PR status(P=0.017)and the receipt of radiation. Compared to AS, 1326 patients (37.54%) underwent stage change after applying PS, with 6.50% upstaged and 37.04% downstaged. There were significant differences in BCSS among patients of different stages under the AS and PS (P<0.001). However, PS was not superior to AS in predicting prognosis (AS vs PS, LR χ(2): 16.41 vs 17.5; AIC: 357.44 vs 358.35; C-index, 0.72 vs 0.73, P=0.667). Conclusions: Both of AS and PS proposed in the 8th edition American Joint Committee on Cancer (AJCC) staging manual were predictive factors in patients with PMBC. Compared with AS, the PS did not show superiority in prognosis prediction among patients with PMBC.