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1.
Sci Rep ; 14(1): 10464, 2024 May 07.
Article in English | MEDLINE | ID: mdl-38714792

ABSTRACT

In order to investigate the failure modes and instability mechanism of fractured rock. Uniaxial compression tests were conducted on sandstone specimens with different dip angles. Based on rock energy dissipation theory and fractal theory, the energy evolution characteristics and fragmentation fractal characteristics in the process of deformation and failure of specimens were analyzed. The results show that the peak strength and elastic modulus of fractured rock mass are lower than those of intact samples, and both show an exponential increase with the increase of fracture dip angle. The energy evolution laws of different fracture specimens are roughly similar and can be classified into four stages based on the stress-strain curve: pressure-tight, elastic, plastic, and post-destructive. The total strain energy, elastic strain energy, and dissipated strain energy of the specimen at the peak stress point increased exponentially with crack inclination, and the dissipated strain energy and compressive strength conformed to a power function growth relationship. The distribution of the fragments after the failure of the fracture sample has fractal characteristics, and the fractal dimension increases with the increase of the fracture dip angle. In addition, the higher the compressive strength of the specimen, the greater the energy dissipation, the more serious the degree of fragmentation, and the greater the fractal dimension. The data fitting further shows that there is a power function relationship between the dissipated strain energy and the fractal dimension. The research results can provide a theoretical basis for the stability of rock mass engineering and structural deformation control.

2.
Clin EEG Neurosci ; : 15500594241234828, 2024 Feb 25.
Article in English | MEDLINE | ID: mdl-38403954

ABSTRACT

Objectives. This study aimed to explore parent-reported symptoms of attention deficit-hyperactivity disorder (ADHD) and sleep electroencephalogram (EEG) theta/beta ratio (TBR) characteristics in children with sleep disordered breathing (SDB). Methods. The parents of children (aged 6-11 years) with SDB (n = 103) and healthy controls (n = 28) completed the SNAP-IV questionnaire, and children underwent overnight polysomnography. Children with SDB were grouped according to obstructive apnea/hypopnea index: primary snoring, mild, and moderate-severe obstructive sleep apnea (OSA) groups. The TBR in non-rapid eye movement (NREM) periods in three sleep cycles was analyzed. Results. Children with SDB showed worse ADHD symptoms compared with the healthy control. There was no intergroup difference in TBR. The time-related decline in TBR observed in the control, primary snoring and mild OSA groups, which was not observed in the moderate-severe OSA group. Overnight transcutaneous oxygen saturation was negatively associated with the hyperactivity/impulsivity score of ADHD symptom. The global TBR during the NREM period in the first sleep cycle was positively correlated with inattention score. Conclusion. Children with SDB showed more ADHD inattention symptoms than the healthy control. Although we found no difference in TBR among groups, we found significant main effect for NREM period. There existed a relationship between hypoxia, TBR, and scores of ADHD symptoms. Hence, it was speculated that TBR can reflect the nocturnal electrophysiological manifestations in children with SDB, which may be related to daytime ADHD symptoms.

3.
Clin Genet ; 105(4): 440-445, 2024 04.
Article in English | MEDLINE | ID: mdl-38148155

ABSTRACT

Nonobstructive azoospermia (NOA), the most severe manifestation of male infertility, lacks a comprehensive understanding of its genetic etiology. Here, a bi-allelic loss-of-function variant in REC114 (c.568C > T: p.Gln190*) were identified through whole exome sequencing (WES) in a Chinese NOA patient. Testicular histopathological analysis and meiotic chromosomal spread analysis were conducted to assess the stage of spermatogenesis arrested. Co-immunoprecipitation (Co-IP) and Western blot (WB) were used to investigate the influence of variant in vitro. In addition, our results revealed that the variant resulted in truncated REC114 protein and impaired interaction with MEI4, which was essential for meiotic DNA double-strand break (DSB) formation. As far as we know, this study presents the first report that identifies REC114 as the causative gene for male infertility. Furthermore, our study demonstrated indispensability of the REC114-MEI4 complex in maintaining DSB homoeostasis, and highlighted that the disruption of the complex due to the REC114 variant may underline the mechanism of NOA.


Subject(s)
Azoospermia , Infertility, Male , Humans , Male , Azoospermia/genetics , Azoospermia/pathology , Loss of Heterozygosity , Infertility, Male/genetics , Infertility, Male/pathology , Testis/pathology , Meiosis/genetics , Cell Cycle Proteins/genetics
4.
Nat Sci Sleep ; 15: 719-727, 2023.
Article in English | MEDLINE | ID: mdl-37750168

ABSTRACT

Purpose: To explore the characteristics of the attentional network and related factors in children with sleep-disordered breathing (SDB). Patients and Methods: A total 228 children (200 children aged 6-10 years with snoring or mouth breathing, admitted to our hospital from May 2020 to July 2022, and 28 healthy children recruited from the community as the control group) were enrolled. All participants underwent polysomnography (PSG) and completed the ADHD rating scale and child version of the Attention Network Test. According to their SDB history and obstructive apnea hypopnea index (OAHI), the participants were divided into control (n = 28), primary snoring (PS; n = 67) and obstructive sleep apnea (OSA; n = 133) groups. Results: The OSA and PS groups were younger than controls (P < 0.05). The proportion of boys was higher in the OSA than control group (P < 0.05). Body mass index was higher in the OSA than control and PS groups (P < 0.01). Attention deficit and hyperactive impulsivity scores were independently associated with the OAHI (P < 0.001). The efficiency of the alerting network was higher in the OSA than in controls (P = 0.020), but was not correlated with OAHI after adjusting for age, sex and SDB history duration (P > 0.05). Conclusion: Children with OSA have impaired attention, characterized by excessive alerting network activation. However, alerting network efficiency did not change linearly with disease severity. More research is needed to elucidate the neural mechanisms underlying attention deficits in pediatric OSA.

5.
Basic Clin Androl ; 33(1): 21, 2023 Aug 17.
Article in English | MEDLINE | ID: mdl-37587426

ABSTRACT

BACKGROUND: Although the orchiopexy is recommended for cryptorchidism to preserve male fertility, non-obstructive azoospermia (NOA) may occur in adulthood. Fortunately, a great many of azoospermic men may obtain sperm by microdissection testicular sperm extraction (mTESE). Due to the potential injuries caused by testicular diagnostic biopsy and vascular damage at the time of orchidopexy, minimal invasiveness is particularly important during mTESE, aims to reduce the surgical damage and avoids secondary testicular failure. This comparative study aims to investigate the efficacy of stepwise mini-incision mTESE technique by comparison with standard mTESE in the treatment of NOA patients with a history of cryptorchidism. RESULTS: A total of 73 mTESE procedures were divided into two groups: Group 1 included 37 cases performed by stepwise mini-incision mTESE, while Group 2 included 36 cases with standard mTESE. The overall sperm retrieval rate (SRR) in the two groups was 68.5% (50/73), with no significant difference in SRR between Group 1 (78.4%, 29/37) and Group 2 (58.3%, 21/36) (P = 0.1). In addition, 46.0% of the patients (17/37) obtained sperm in the first mini-incision step in Group 1, which was also equal to an overall SRR in Group 2 (58.3%, 21/36) (P = 0.3). The operation time in Group 1 (72.6 ± 33.9 min) was significantly shorter than that in Group 2 (90.4 ± 36.4 min) (P = 0.04). Patients with an orchidopexy age no more than 10 years old had a higher SRR (79.5%, 31/39) than others (55.9%, 19/34) (P = 0.03). There were no postoperative complications including wound infection, scrotal hematoma, persistent pain, and testicular atrophy during a follow-up period of at least 6 months. CONCLUSIONS: In conclusion, our study suggests that the stepwise mini-incision mTESE could be a promising approach for sperm retrieval in NOA men with a history of cryptorchidism. While the technique may potentially reduce operation time and surgical invasiveness, further research is needed to validate these findings on a larger scale. The results also suggest that age at orchidopexy may affect SRR and have important implications for the management of cryptorchidism.


RéSUMé: CONTEXTE: Bien que l'orchidopexie soit recommandée en cas de cryptorchidie afin de préserver la fertilité masculine, une azoospermie non obstructive (NOA) peut survenir à l'âge adulte. Heureusement, un grand nombre d'hommes azoospermiques peuvent obtenir des spermatozoïdes lors d'une extraction de spermatozoïdes testiculaire par microdissection (mTESE). En raison des potentielles lésions causées par la biopsie diagnostique testiculaire et des lésions vasculaires survenant au moment de l'orchidopexie, une approche minimalement  invasive est particulièrement importante pendant la mTESE;  elle vise à réduire les dommages chirurgicaux et à éviter une insuffisance testiculaire secondaire. La présente étude comparative a pour but d' étudier l'efficacité de la mTESE par mini-incision par étapes en comparaison avec la mTESE standard dans le traitement des patients NOA qui ont des antécédents de cryptorchidie. RéSULTATS: Au total, 73 procédures de mTESE ont été divisées en deux groupes: le Groupe 1 comprenait 37 cas effectués avec la mTESE par mini-incision par étapes, tandis que le Groupe 2 comprenait 36 cas réalisés par la mTESE standard. Le taux global de récupération de spermatozoïdes (SRR) dans les deux groupes était de 68, 5% (50/73), sans différence significative de SRR entre le Groupe 1 (78, 4%, 29/37) et le Groupe 2 (58, 3%, 21/36) (P = 0,1). De plus, 46% des patients (17/37) ont obtenu des spermatozoïdes lors de la première étape de mini-incision dans le Groupe 1, ce qui était identique au SRR global dans le Groupe 2 (58%, 21/36) (P = 0,3). Le temps opératoire du Groupe 1 (72, 6 ± 34 min) était significativement plus court que celui du Groupe 2 (90, 4 ± 36 min) (P = 0,04). Les patients dont l'orchidopexie avait été réalisée au plus tard à l'âge de 10 ans avaient un SRR plus élevé (79, 5%, 31/39) que les autres (55, 9%, 19/34) (P = 0,03). Il n'y a pas eu de complications postopératoires, que ce soit infection de la plaie, hématome scrotal, douleur persistante, ou atrophie testiculaire pendant une période de suivi d'au moins 6 mois. CONCLUSIONS: Notre étude suggère que la mTESE par mini-incision par étapes pourrait être une approche prometteuse pour la récupération de spermatozoïdes chez les hommes NOA ayant des antécédents de cryptorchidie. Bien que la technique puisse potentiellement réduire le temps d'opération et le caractère invasif du geste chirurgical, des recherches supplémentaires sont nécessaires pour valider ces résultats à plus grande échelle. Les résultats suggèrent également que l'âge à l'orchidopexie peut affecter le SRR et avoir des implications importantes pour la prise en charge de la cryptorchidie.

6.
Asian J Androl ; 2023 Feb 24.
Article in English | MEDLINE | ID: mdl-36861503

ABSTRACT

Stepwise mini-incision microdissection testicular sperm extraction (mTESE) is a procedure that attempts to minimize testicular damage. However, the mini-incision approach may vary in patients with different etiologies. Here, we performed a retrospective analysis of 665 men with nonobstructive azoospermia (NOA) who underwent stepwise mini-incision mTESE (Group 1) and 365 men who underwent standard mTESE (Group 2). The results showed that the operation time (mean ± standard deviation) for patients with successful sperm retrieval in Group 1 (64.0 ± 26.6 min) was significantly shorter than that in Group 2 (80.2 ± 31.3 min), with P <0.001. The total sperm retrieval rate (SRR) was 23.1% in our study, and there was no significant difference between Group 1 and Group 2 ( P >0.05), even when the etiologies of NOA were taken into consideration. The results of consecutive multivariate logistic regression analysis (odds ratio [OR]: 0.57; 95% confidence interval [CI]: 0.38-0.87; P =0.009) and receiver operating characteristic (ROC) analysis (area under the ROC curve [AUC]=0.628) showed that preoperative anti-Müllerian hormone (AMH) level in idiopathic NOA patients was a potential predictor for surgical outcomes after initial three small incisions made in the equatorial region without sperm examined under an operating microscope (Steps 2-4). In conclusion, stepwise mini-incision mTESE is a useful technique for NOA patients, with comparable SRR, less surgical invasiveness, and shorter operation time compared with the standard approach. Low AMH levels may predict successful sperm retrieval in idiopathic patients even after a failed initial mini-incision procedure.

7.
J ECT ; 39(2): 111-116, 2023 06 01.
Article in English | MEDLINE | ID: mdl-36413657

ABSTRACT

OBJECTIVE: This study aims to provide an evaluation of electroconvulsive therapy (ECT) in hospitalized adolescents with major depressive and bipolar disorders by examining its treatment outcomes as well as comparing it with outcomes of hospitalized patients, treated as usual (TAU). METHODS: This is a retrospective study based on medical records documented between April 2011 and December 2017 from Beijing An Ding Hospital. Patients were diagnosed according to the International Classification of Diseases, Tenth Revision . The study included 288 inpatients, with 2 groups of 171 patients treated by ECT and 117 TAU. The primary outcome was measured using the severity subscale of Clinical Global Impression. Mann-Whitney U test, χ2 test, and linear regression with mixed models were used to analyze the data. RESULTS: Symptom severity reduced significantly for both groups ( ß = -0.62, t975.93 = -20.54, P < 0.001). The TAU group was associated with lower score on the severity subscale of Clinical Global Impression ( ß = 0.28, t980.32 = 8.36, P < 0.001). The ECT group had a higher remission rate (28.65%) than the TAU group (16.24%), but the time required for remission was longer ( U [ NECT = 49, NTAU = 19] = 615, z = 2.10, P = 0.04). Adverse events of ECT were barely observed. CONCLUSION: Electroconvulsive therapy is an efficacious and safe treatment for adolescents. However, as the superiority in efficacy was not evident in ECT group, its prescription should be prudently considered for younger patients who respond well to other treatments.


Subject(s)
Bipolar Disorder , Depressive Disorder, Major , Electroconvulsive Therapy , Humans , Adolescent , Electroconvulsive Therapy/adverse effects , Bipolar Disorder/drug therapy , Depressive Disorder, Major/drug therapy , Retrospective Studies , Treatment Outcome
8.
Asian J Androl ; 25(1): 73-77, 2023.
Article in English | MEDLINE | ID: mdl-35381699

ABSTRACT

Patients with congenital unilateral absence of the vas deferens (CUAVD) manifest diverse symptoms from normospermia to azoospermia. Treatment for CUAVD patients with obstructive azoospermia (OA) is complicated, and there is a lack of relevant reports. In this study, we describe the clinical features and evaluate the treatments and outcomes of CUAVD patients with OA. From December 2015 to December 2020, 33 patients were diagnosed as CUAVD with OA in Shanghai General Hospital (Shanghai, China). Patient information, ultrasound findings, semen analysis, hormone profiles, and treatment information were collected, and the clinical outcomes were evaluated. Of 33 patients, 29 patients were retrospectively analyzed. Vasoepididymostomy (VE) or cross VE was performed in 12 patients, the patency rate was 41.7% (5/12), and natural pregnancy was achieved in one of the patients. The other 17 patients underwent testicular sperm extraction as the distal vas deferens (contralateral side) was obstructed. These findings showed that VE or cross VE remains an alternative treatment for CUAVD patients with OA, even with a relatively low rate of patency and natural pregnancy.


Subject(s)
Azoospermia , Vas Deferens , Pregnancy , Female , Humans , Male , Vas Deferens/surgery , Vas Deferens/abnormalities , Azoospermia/surgery , Epididymis/surgery , Retrospective Studies , Tertiary Care Centers , China , Semen
9.
Brain Sci ; 12(12)2022 Dec 08.
Article in English | MEDLINE | ID: mdl-36552148

ABSTRACT

Although previous studies have reported a facial expression classification deficit among adults with SDB, we do not know whether these findings can be generalized to children. In our study, children with sleep-disordered breathing (SDB) were divided into three groups: primary snoring (n = 51), mild obstructive sleep apnea (OSA) (n = 39), and moderate/severe OSA (n = 26). All participants, including 20 healthy controls, underwent an overnight polysomnography recording and the Emotional Expression Recognition Task. Psychosocial problems were evaluated using the parent-reported Strengths and Difficulties Questionnaire (SDQ). There was a borderline significant interaction between expression category and group on reaction times. Further analysis revealed that positive classification advantage (PCA) disappeared in the moderate/severe OSA group, whereas it persisted in the control, primary snoring, and mild OSA groups. Emotional symptoms were positively correlated with OAHI. In both the happy and sad conditions, RT was negatively related to age and body mass index (BMI) but was independent of the obstructive apnea-hypopnea index (OAHI), arterial oxygen (SaO2) and total sleep time. The accuracy of identifying a sad expression was negatively related to conduct problems. Children with moderate/severe OSA exhibited dysfunction in facial expression categorization, which could potentially affect social communication ability.

10.
J Sex Med ; 19(10): 1536-1545, 2022 10.
Article in English | MEDLINE | ID: mdl-35999130

ABSTRACT

BACKGROUND: A recent sham-controlled clinical study has shown that low-intensity pulsed ultrasound twice per week can safely and effectively treat patients with mild-to-moderate erectile dysfunction (ED). However, large-scale clinical trials are needed to verify its efficacy and safety and determine a reasonable treatment interval. AIM: To study whether low-intensity pulsed ultrasound therapy thrice per week is non-inferior to twice per week in patients with mild-to-moderate ED. METHODS: A randomized, open-label, parallel-group, non-inferiority clinical trial was conducted in 7 hospitals in China. A total of 323 patients with mild-to-moderate ED were randomized (1:1) into thrice per week (3/W) and twice per week (2/W) groups. Low-intensity pulsed ultrasound was applied on each side of the penis for 16 sessions. OUTCOMES: The primary outcome was response rate using the minimal clinically important difference in the International Index of Erectile Function (IIEF-EF) score at week 12. Secondary outcomes included Erection Hardness Score (EHS), Sexual Encounter Profile, Global Assessment Question, and Self Esteem and Relationship Questionnaire. RESULTS: Response rates in 3/W and 2/W groups were 62.0% and 62.5%, respectively. Treatment effect in the 3/W group was noninferior to that of the 2/W group, with rate difference lower bound of -0.01% [95% confidence interval -0.11 to 0.10%] within the acceptable margin (-14.0%). No significant difference was found among secondary outcomes. IIEF-EF score showed a significant increase from baseline in the 3/W group (16.8 to 20.7) and 2/W group (17.8 to 21.7), and the percentage of patients with EHS ≥3 increased in the 3/W (54.9% to 84.0%) and 2/W (59.5% to 83.5%) groups. There was no significant difference in response rate between the 2 groups after controlling for strata factors and homogeneous tests. No treatment-related adverse events were reported. CLINICAL IMPLICATIONS: Low-intensity pulsed ultrasound therapy displays similar efficacy and safety for mild-to-moderate ED when administered thrice or twice per week for 16 sessions. This study provides two options to suit patients' needs. STRENGTHS & LIMITATIONS: This is a large-sample, randomized, controlled, noninferiority trial study. Short-term follow-up and mostly younger patients are the main limitations. CONCLUSION: Low-intensity pulsed ultrasound therapy thrice and twice per week showed equivalent therapeutic effects and safety for mild-to-moderate ED in a young and generally healthy population. This therapy warrants further investigation of its potential value in rehabilitation of ED. Chen, H., Li Z., Li X., et al. The Efficacy and Safety of Thrice vs Twice per Week Low-Intensity Pulsed Ultrasound Therapy for Erectile Dysfunction: A Randomized Clinical Trial. J Sex Med 2022;19:1536-1545.


Subject(s)
Erectile Dysfunction , Double-Blind Method , Humans , Male , Penile Erection , Penis , Treatment Outcome , Ultrasonic Waves
11.
Int J Cancer ; 151(4): 607-615, 2022 08 15.
Article in English | MEDLINE | ID: mdl-35419831

ABSTRACT

This randomized, multicenter, phase II clinical trial was performed to compare the safety and efficacy of concurrent chemoradiotherapy using S-1 (CCRT) with radiotherapy alone (RT) for elderly patients with locally advanced esophageal squamous cell carcinoma (ESCC). All eligible patients were randomly assigned to the CCRT group or the RT group at a 1:1 ratio. The CCRT group received 50.4 Gy radiotherapy concurrent with S-1 and the RT group received 59.4 Gy radiotherapy alone. The primary endpoints were toxicity and the overall response rate (ORR), and the secondary endpoints were overall survival (OS) and progression-free survival (PFS). In total, 157 elderly patients with ESCC were recruited from December 2016 to March 2020. By June 2021, the median follow-up duration had reached 38 months. No grade 5 toxicities occurred in either group and the overall rate of severe toxicities (≥grade 3) was higher in the CCRT group (19.2% vs 7.6%; P = .037), particularly neutropenia (7.7% vs 1.3%; P = .06). The CCRT group presented a significantly higher ORR (83.3% vs 68.4%; P = .009) and prolonged PFS (25.7 vs 13.9 months; P = .026) than the RT group. The median OS was 27.3 months in the CCRT group and 19.1 months in the RT group (P = .59). For patients older than 70 years with locally advanced ESCC, concurrent chemoradiotherapy with S-1 had tolerable adverse effects and improved ORR and PFS compared to radiotherapy alone.


Subject(s)
Carcinoma, Squamous Cell , Esophageal Neoplasms , Esophageal Squamous Cell Carcinoma , Aged , Antineoplastic Combined Chemotherapy Protocols/adverse effects , Carcinoma, Squamous Cell/pathology , Chemoradiotherapy/adverse effects , Cisplatin/therapeutic use , Epithelial Cells/pathology , Esophageal Neoplasms/drug therapy , Esophageal Neoplasms/radiotherapy , Esophageal Squamous Cell Carcinoma/drug therapy , Humans
12.
Andrologia ; 54(7): 1592-1597, 2022 Aug.
Article in English | MEDLINE | ID: mdl-35312195

ABSTRACT

The three-dimension digital image microscope system (3D-DIM) with a better ergonomic design and equipment characteristics can contribute to the achievement of good results during microsurgery. In this study, the safety and efficiency of 3D-DIM assisted varicocelectomy was evaluated. From July 2019 to November 2019, fifteen cases with varicocele (20 sides of varicocele in total) were included, seven cases underwent 3D-DIM-assisted modified microsurgical subinguinal varicocelectomy, and eight cases underwent modified microsurgical subinguinal varicocelectomy under standard operating microscope (SOM). The mean operative time of 3D-DIM group (67 ± 12.3 min) was a little longer than that of SOM group (55 ± 12.9 min) (p < 0.05). There was no significant difference between the two groups in the number of internal spermatic arteries, internal spermatic vein, lymphatics, gubernacular vein, external spermatic vein and post-operation complications. The 3D-DIM showed a significant difference in image definition for nurse (p < 0.01) and in doctor-nurse cooperation (p < 0.05) over SOM. The 3D-DIM with better ergonomic design and image definition can be applied to perform microsurgical subinguinal varicocelectomy, and could improve the surgeon's fatigue and doctor-nurse cooperation. We believe that the 3D-DIM would be widely used in the field of male infertility microsurgery in the near future.


Subject(s)
Spermatic Cord , Varicocele , Humans , Male , Microsurgery/methods , Spermatic Cord/blood supply , Spermatic Cord/surgery , Varicocele/surgery , Vascular Surgical Procedures/methods , Veins/surgery
13.
Reprod Biol Endocrinol ; 20(1): 21, 2022 Jan 28.
Article in English | MEDLINE | ID: mdl-35090489

ABSTRACT

BACKGROUND: Non-obstructive azoospermia (NOA) is one of the most severe type in male infertility, and the genetic causes of NOA with meiotic arrest remain elusive. METHODS: Four Chinese families with NOA participated in the study. We performed whole-exome sequencing (WES) for the four NOA-affected patients in four pedigrees. The candidate causative gene was further verified by Sanger sequencing. Hematoxylin and eosin staining (H&E) and immunohistochemistry (IHC) were carried out to evaluate the stage of spermatogenesis arrested in the patients with NOA. RESULTS: We identified two novel homozygous frameshift mutations of MSH4 and two novel compound heterozygous variants in MSH4 in four pedigrees with NOA. Homozygous loss of function (LoF) variants in MSH4 was identified in the NOA-affected patient (P9359) in a consanguineous Chinese family (NM_002440.4: c.805_812del: p.V269Qfs*15) and one patient with NOA (P21504) in another Chinese family (NM_002440.4: c.2220_2223del:p.K741Rfs*2). Also, compound heterozygous variants in MSH4 were identified in two NOA-affected siblings (P9517 and P9517B) (NM_002440.4: c.G1950A: p.W650X and c.2179delG: p.D727Mfs*11), and the patient with NOA (P9540) (NM_002440.4: c.G244A: p.G82S and c.670delT: p.L224Cfs*3). Histological analysis demonstrated lack of spermatozoa in seminiferous tubules of all patients and IHC showed the spermatogenesis arrested at the meiotic prophase I stage. Consistent with the autosomal recessive mode of inheritance, all of these mutations were inherited from heterozygous parental carriers. CONCLUSIONS: We identified that six novel mutations in MSH4 responsible for meiotic arrest and NOA. And these results provide researchers with a new insight to understand the genetic etiology of NOA and to identify new loci for genetic counselling of NOA.


Subject(s)
Azoospermia/genetics , Cell Cycle Proteins/genetics , Meiosis/genetics , Adult , Cell Cycle Checkpoints/genetics , China , Family , Genetic Association Studies , Homozygote , Humans , Infertility, Male/diagnosis , Infertility, Male/genetics , Male , Mutation , Pedigree , Spermatogenesis/genetics , Exome Sequencing
14.
IEEE Trans Cybern ; 52(5): 4027-4038, 2022 May.
Article in English | MEDLINE | ID: mdl-32881704

ABSTRACT

In current studies of safety assessment for complex systems with the evidential reasoning (ER) rule, the evidence reliability is generally given by experts, which makes the observation data by sensors ignored. However, sensors are inevitably affected by such various uncertainties as perturbations in engineering practice, which can reduce their quality and tracking ability. As such, the observation data may become unreliable, and the modeling accuracy of the ER rule is decreased. In this article, a new ER rule-based safety assessment method with sensor reliability for complex systems is proposed, where sensor reliability and perturbation are considered. The coefficient of the variation-based weighting (CVBW) method is employed to obtain sensor weight. The sensor reliability is calculated by static reliability and dynamic reliability, which are determined by experts and the distance-based method, respectively. The perturbation is quantified as a bounded parameter defined as the perturbation factor, which is used to describe uncertainties and aggregate static reliability and dynamic reliability. The performance analysis of safety assessment is conducted to demonstrate the rationality of perturbation and position poor sensors, followed by a safety assessment algorithm. A case study is carried out to validate the effectiveness of the proposed method.


Subject(s)
Algorithms , Reproducibility of Results
15.
Front Surg ; 8: 657869, 2021.
Article in English | MEDLINE | ID: mdl-34026814

ABSTRACT

Background: Until recently, most enucleation techniques of the prostate were performed with the application of morcellator. We introduce a modified enucleation technique of thulium laser with non-morcellator approach, which is about incising and vaporizing remaining prostate tissue instead of a morcellator. Methods: A retrospective evaluation of 223 patients undergoing ThuLEP from January 2014 to December 2015 was performed in our institution. One hundred five of the patients used morcellator while the other 118 used non-morcellator approach. All patients were assessed with the International Prostate Symptom Score (IPSS), quality of life (Qol), ultrasonography, serum prostate-specific antigen (PSA), maximal urine flow rate (Qmax), and postvoid residual urine volume (PVR). We reassessed these parameters at 1-, 3-, 6-, and 12-months after operation. Operative time, perioperative, and postoperative complications were also recorded. Results: Significant improvement was noted in the IPSS, QoL, Qmax, and PVR in both groups at the 12-month follow-up, and assessment showed no differences in these parameters between the two groups. Comparisons of the total operation time and enucleation time demonstrated no significant differences between the two groups. Our non-morcellator approach needed more time to incise and vaporize the enucleated tissue compared to morcellation when the prostate volume was about 40-80 ml (p < 0.05), while it showed a significant lower rate of superficial bladder injury than using morcellator (p < 0.05). There were no significant differences in other complications between the two groups (p > 0.05). Conclusions: Our modified technique is a safe and effective procedure for the treatment of BPH avoiding the potential complications caused by morcellator.

16.
Front Oncol ; 11: 631703, 2021.
Article in English | MEDLINE | ID: mdl-33869017

ABSTRACT

Exosomes are small extracellular vesicles containing diverse bioactive molecules. They play essential roles in mediating bidirectional interplay between cancer and stromal cells. Specific elements are selected into different types of exosomes via various mechanisms, including microRNAs (miRNAs), a subset of non-coding RNA that could epigenetically reprogram cells and modulate their activities. Cancer-associated fibroblasts (CAFs) and tumor-associated macrophages (TAMs) are two major types of stromal cells inhibiting immune response and facilitating tumor progression. Notably, accumulated studies provided critical evidence regarding the significance of exosomal miRNA-mediated intercellular crosstalk between cancer cells with TAMs and CAFs for tumor progression. This review aimed to summarize the current knowledge of cell-cell interactions between stromal and cancer cells conveyed by exosome-derived miRNAs. The findings might help find effective therapeutic targets of cancer.

17.
Aging (Albany NY) ; 13(7): 10289-10311, 2021 04 04.
Article in English | MEDLINE | ID: mdl-33819196

ABSTRACT

The immune response is associated with the progression and prognosis of epithelial ovarian cancer (EOC). However, the roles of infiltrated immune cells and immune-related genes (IRGs) in EOC have not been reported comprehensively. In the current study, the differentially expressed genes (DEGs) were filtered based on the integrated gene expression data acquired from The University of California at Santa Cruz (UCSC) Genome Browser. Then, IRGs and transcriptional factors (TFs) were screened based on the ImmPort database and Cistrome database. A total of 501 differentially expressed IRGs, and 76 TFs were detected. A TF-mediated network was constructed by univariate Cox analysis to reveal the potential regulatory mechanisms of IRGs. Next, a nine immune-based prognostic risk model using nine IRGs (PI3, CXCL10, CXCL11, LCN6, CCL17, CCL25, MIF, CX3CR1, and CSPG5) was established. Based on the risk score worked out from the signature, the EOC patients could be classified into low-risk and high-risk groups. Furthermore, the immune landscapes, elevated by the cell-type identification by estimating relative subsets of RNA transcripts (CIBERSORT) algorithm and the Tumor Immune Estimation Resource (TIMER) database, effectuated different patterns in two groups. Thus, an immune-based prognostic risk model of EOC elucidates the immune status in the tumor microenvironment, and hence, could be used for prognosis.


Subject(s)
Carcinoma, Ovarian Epithelial/immunology , Ovarian Neoplasms/immunology , Tumor Microenvironment/immunology , Biomarkers, Tumor/immunology , Carcinoma, Ovarian Epithelial/mortality , Female , Humans , Ovarian Neoplasms/mortality , Prognosis
18.
Cancer Lett ; 503: 138-150, 2021 04 10.
Article in English | MEDLINE | ID: mdl-33503448

ABSTRACT

The androgen receptor (AR) is expressed in prostate fibroblasts in addition to normal prostate epithelial cells and prostate cancer (PCa) cells. Moreover, AR activation in fibroblasts dramatically influences prostate cancer (PCa) cell behavior. Androgen deprivation leads to deregulation of AR downstream target genes in both fibroblasts and PCa cells. Here, we identified LIM domain only 2 (LMO2) as an AR target gene in prostate fibroblasts using ChIP-seq and revealed that LMO2 can be repressed directly by AR through binding to androgen response elements (AREs), which results in LMO2 overexpression after AR deactivation due to normal prostate fibroblasts to cancer-associated fibroblasts (CAFs) transformation or androgen deprivation therapy. Next, we investigated the mechanisms of LMO2 overexpression in fibroblasts and the role of this event in non-cell-autonomous promotion of PCa cells growth in the androgen-independent manner through paracrine release of IL-11 and FGF-9. Collectively, our data suggest that AR deactivation deregulates LMO2 expression in prostate fibroblasts, which induces castration resistance in PCa cells non-cell-autonomously through IL-11 and FGF-9.


Subject(s)
Adaptor Proteins, Signal Transducing/metabolism , Benzamides/pharmacology , Cancer-Associated Fibroblasts/metabolism , LIM Domain Proteins/metabolism , Nitriles/pharmacology , Phenylthiohydantoin/pharmacology , Prostatic Neoplasms, Castration-Resistant/metabolism , Proto-Oncogene Proteins/metabolism , Receptors, Androgen/metabolism , Up-Regulation , Animals , Cell Line, Tumor , Cell Movement , Cell Proliferation , Chromatin Immunoprecipitation Sequencing , Fibroblast Growth Factor 9/metabolism , Gene Expression Regulation, Neoplastic , Humans , Interleukin-11/metabolism , Male , Mice , Paracrine Communication , Primary Cell Culture , Transcriptional Activation/drug effects
19.
Asian J Androl ; 23(4): 415-420, 2021.
Article in English | MEDLINE | ID: mdl-33473011

ABSTRACT

To improve the diagnostic efficiency of prostate cancer (PCa) and reduce unnecessary biopsies, we defined and analyzed the diagnostic efficiency of peripheral zone prostate-specific antigen (PSA) density (PZ-PSAD). Patients who underwent systematic 12-core prostate biopsies in Shanghai General Hospital (Shanghai, China) between January 2012 and January 2018 were retrospectively identified (n = 529). Another group of patients with benign prostatic hyperplasia (n = 100) were randomly preselected to obtain the PSA density of the non-PCa cohort (N-PSAD). Prostate volumes and transition zone volumes were measured using multiparameter magnetic resonance imaging (mpMRI) and were combined with PSA and N-PSAD to obtain the PZ-PSAD from a specific algorithm. Receiver operating characteristic (ROC) curve analysis was used to assess the PCa detection efficiency in patients stratified by PSA level, and the area under the ROC curve (AUC) of PZ-PSAD was higher than that of PSA, PSA density (PSAD), and transition zone PSA density (TZ-PSAD). PZ-PSAD could amend the diagnosis for more than half of the patients with inaccurate transrectal ultrasonography (TRUS) and mpMRI results. When TRUS and mpMRI findings were ambiguous to predict PCa (PIRADS score ≤3), PZ-PSAD could increase the positive rate of biopsy from 21.7% to 54.7%, and help 63.8% (150/235) of patients avoid unnecessary prostate biopsy. In patients whose PSA was 4.0-10.0 ng ml-1, 10.1-20.0 ng ml-1, and >20.0 ng ml-1, the ideal PZ-PSAD cut-off value for predicting clinically significant PCa was 0.019 ng ml-2, 0.297 ng ml-2, and 1.180 ng ml-2, respectively (sensitivity >90%). Compared with PSA, PSAD, and TZ-PSAD, the efficiency of PZ-PSAD for predicting PCa is the highest, leading to fewer missed diagnoses and unnecessary biopsies.


Subject(s)
Predictive Value of Tests , Prostate-Specific Antigen/analysis , Prostatic Neoplasms/diagnosis , Aged , Aged, 80 and over , China , Cohort Studies , Humans , Male , Middle Aged , Prostate-Specific Antigen/blood , Prostatic Neoplasms/blood , Retrospective Studies , Sensitivity and Specificity , Statistics, Nonparametric
20.
Asian J Androl ; 21(6): 612-617, 2019.
Article in English | MEDLINE | ID: mdl-31006712

ABSTRACT

This study compared the diagnostic efficacy of transrectal ultrasound (TRUS)-guided prostate biopsy (TRBx) and transperineal prostate biopsy (TPBx) in patients with suspected prostate cancer (PCa). We enrolled 2962 men who underwent transrectal (n = 1216) or transperineal (n = 1746) systematic 12-core prostate biopsy. Clinical data including age, prostate-specific antigen (PSA) level, and prostate volume (PV) were recorded. To minimize confounding, we performed propensity score-matching analysis. We measured and compared PCa detection rates between TRBx and TPBx, which were stratified by clinical characteristics and Gleason scores. The effects of clinical characteristics on PCa detection rate were assessed by logistic regression. For all patients, TPBx detected a higher proportion of clinically significant PCa (P < 0.001). Logistic regression analyses illustrated that PV had a smaller impact on PCa detection rate of TPBx compared with TRBx. Propensity score-matching analysis showed that the detection rates in TRBx were higher than those in TPBx for patients aged >- 80 years (80.4% vs 56.5%, P = 0.004) and with PSA level 20.1-100.0 ng ml-1 (80.8% vs 69.1%, P = 0.040). In conclusion, TPBx was associated with a higher detection rate of clinically significant PCa than TRBx was; however, because of the high detection rate at certain ages and PSA levels, biopsy approaches should be optimized according to patents' clinical characteristics.


Subject(s)
Biopsy/methods , Prostate/pathology , Prostatic Neoplasms/diagnosis , Adult , Age Factors , Aged , Aged, 80 and over , Humans , Logistic Models , Male , Middle Aged , Neoplasm Grading , Perineum , Propensity Score , Prostate-Specific Antigen/blood , Prostatic Neoplasms/pathology , Rectum
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