1.Perioperative nursing for patients undergoing autologous dermis grafting for penile girth augmentation and penile lengthening
Qin-Bo HU ; Yi-Bo DAI ; Chang-Ying MEI ; Qin-Hong XU
National Journal of Andrology 2024;30(5):424-429
Objective:To explore the perioperative nursing methods of autologous dermal transplantation for penile girth en-hancement combined with penile lengthening surgery.Methods:Summarize the perioperative nursing data of 5 patients with small penis who underwent autologous groin dermal transplantation for penile girth enhancement combined with penile lengthening surgery.Results:After comprehensive perioperative nursing,all 5 patients recovered well after the surgery.The preoperative APPSSI scores of the patients were4.60±0.48,which were all less than 6 points.The postoperative APPSSI scores at 2 months,6 months,and 12 months were 9-12(10.6±1.02),10-12(11.2±0.98),and 10-12(11.2±0.98)respectively,showing satisfaction with the surgical outcomes.There was a statistically significant difference compared to the preoperative APPSSI scores(P<0.05).The preop-erative SAS scores were 45-58(52.2±4.35),and the SAS scores at 2 months,6 months,and 12 months postoperatively were 31-40(34.2±3.31),30-41(35.8±3.65),and 33-40(35.6±2.33)respectively,indicating a reduction in anxiety levels after the surgery,with a statistically significant difference compared to the preoperative SAS scores(P<0.05).The preoperative IIEF-5 scores were 7-15(10.4±2.87),and the IIEF-5 scores at 2 months,6 months,and 1 year postoperatively were 16-24(19.8±2.71),18-25(21.2±2.48),and 18-24(20.8±2.39)respectively,showing a significant improvement postoperatively,with statistical significance(P<0.05).The preoperative NPTR examination showed a sustained erection time of 18-25(21.2±2.59)minutes,and the NPTR examination at2 months,6 months,and 1 year postoperatively showed sustained erection times of 18-24(21.8±2.28),20-25(23.4±2.30),and 24-27(25.4±1.14)minutes respectively.There was no statistically significant difference in the sustained erection time at 2 months and 6 months postoperatively compared to preoperative NPTR examination,but there was a statisti-cally significant difference at 12 months postoperatively(P<0.01).Conclusion:Comprehensive perioperative nursing is an impor-tant factor in achieving high satisfaction with the surgery,promoting postoperative recovery,and improving the quality of sexual life for patients undergoing autologous groin dermal transplantation for penile girth enhancement combined with penile lengthening surgery.
2.The cytochrome P4501A1 (CYP1A1) inhibitor bergamottin enhances host tolerance to multidrug-resistant Vibrio vulnificus infection
Ruo-Bai QIAO ; Wei-Hong DAI ; Wei LI ; Xue YANG ; Dong-Mei HE ; Rui GAO ; Yin-Qin CUI ; Ri-Xing WANG ; Xiao-Yuan MA ; Fang-Jie WANG ; Hua-Ping LIANG
Chinese Journal of Traumatology 2024;27(5):295-304
Purpose::Vibrio vulnificus ( V. Vulnificus) infection is characterized by rapid onset, aggressive progression, and challenging treatment. Bacterial resistance poses a significant challenge for clinical anti-infection treatment and is thus the subject of research. Enhancing host infection tolerance represents a novel infection prevention strategy to improve patient survival. Our team initially identified cytochrome P4501A1 (CYP1A1) as an important target owing to its negative modulation of the body's infection tolerance. This study explored the superior effects of the CYP1A1 inhibitor bergamottin compared to antibiotic combination therapy on the survival of mice infected with multidrug-resistant V. Vulnificus and the protection of their vital organs. Methods::An increasing concentration gradient method was used to induce multidrug-resistant V. Vulnificus development. We established a lethal infection model in C57BL/6J male mice and evaluated the effect of bergamottin on mouse survival. A mild infection model was established in C57BL/6J male mice, and the serum levels of creatinine, urea nitrogen, aspartate aminotransferase, and alanine aminotransferase were determined using enzyme-linked immunosorbent assay to evaluate the effect of bergamottin on liver and kidney function. The morphological changes induced in the presence of bergamottin in mouse organs were evaluated by hematoxylin and eosin staining of liver and kidney tissues. The bacterial growth curve and organ load determination were used to evaluate whether bergamottin has a direct antibacterial effect on multidrug-resistant V. Vulnificus. Quantification of inflammatory factors in serum by enzyme-linked immunosorbent assay and the expression levels of inflammatory factors in liver and kidney tissues by real-time quantitative polymerase chain reaction were performed to evaluate the effect of bergamottin on inflammatory factor levels. Western blot analysis of IκBα, phosphorylated IκBα, p65, and phosphorylated p65 protein expression in liver and kidney tissues and in human hepatocellular carcinomas-2 and human kidney-2 cell lines was used to evaluate the effect of bergamottin on the nuclear factor kappa-B signaling pathway. One-way ANOVA and Kaplan-Meier analysis were used for statistical analysis. Results::In mice infected with multidrug-resistant V. Vulnificus, bergamottin prolonged survival ( p = 0.014), reduced the serum creatinine ( p = 0.002), urea nitrogen ( p = 0.030), aspartate aminotransferase ( p = 0.029), and alanine aminotransferase ( p = 0.003) levels, and protected the cellular morphology of liver and kidney tissues. Bergamottin inhibited interleukin (IL)-1β, IL-6, and tumor necrosis factor (TNF)-α expression in serum (IL-1β: p = 0.010, IL-6: p = 0.029, TNF-α: p = 0.025) and inhibited the protein expression of the inflammatory factors IL-1β, IL-6, TNF-α in liver (IL-1β: p = 0.010, IL-6: p = 0.011, TNF-α: p = 0.037) and kidney (IL-1β: p = 0.016, IL-6: p = 0.011, TNF-α: p = 0.008) tissues. Bergamottin did not affect the proliferation of multidrug-resistant V. Vulnificus or the bacterial load in the mouse peritoneal lavage fluid ( p = 0.225), liver ( p = 0.186), or kidney ( p = 0.637). Conclusion::Bergamottin enhances the tolerance of mice to multidrug-resistant V. Vulnificus infection. This study can serve as a reference and guide the development of novel clinical treatment strategies for V. Vulnificus.
3.Clinical Observation on the Tongyuan Acupuncture Combined with Modified Linggui Zhugan Decoction in the Treatment of Polycystic Ovary Syndrome with Spleen Deficiency and Phlegm-Damp Syndrome
Luo-Lin ZHOU ; Jun-Liang ZHOU ; Xing-Ju TAN ; Yue-Mei LI ; Dai-Hong LUO
Journal of Guangzhou University of Traditional Chinese Medicine 2024;41(7):1792-1797
Objective To observe the clinical effect of Tongyuan Acupuncture combined with Modified Linggui Zhugan Decoction in the treatment of polycystic ovary syndrome(PCOS)with spleen deficiency and phlegm-damp syndrome.Methods A total of 86 patients with PCOS of spleen deficiency and phlegm-damp type were randomly divided into observation group and control group,43 cases in each group.The control group was treated with Metformin Hydrochloride Tablets combined with Ethinylestradiol and Cyproterone Acetate Tablets.The observation group was treated with Tongyuan Acupuncture combined with Modified Linggui Zhugan Decoction on the basis of the treatment of the control group.Both groups were treated for three consecutive months.After three months of treatment,the clinical efficacy of the two groups was evaluated.The changes of sex hormone indexes estradiol(E2),testosterone(T),luteinizing hormone(LH),follicle stimulating hormone(FSH)and prolactin(PRL)expression levels were observed before and after treatment in the two groups.The changes of glucose metabolism levels including insulin resistance index(HOMA-IR),fasting insulin(FINS)and fasting blood glucose(FPG)expression levels were compared before and after treatment between the two groups.Results(1)The total effective rate was 90.70%(39/43)in the observation group and 74.42%(32/43)in the control group.The curative effect of the observation group was superior to that of the control group,and the difference was statistically significant(P<0.05).(2)After treatment,HOMA-IR,FINS and FPG in the two groups were significantly improved(P<0.05),and the improvement of HOMA-IR,FINS and FPG in the observation group was superior to that in the control group,the difference being significant(P<0.05).(3)After treatment,the levels of E2,T,LH,FSH and PRL in the two groups were significantly improved(P<0.05),and the levels of E2,T,LH,FSH and PRL in the observation group were significantly superior to those in the control group,the differences were statistically significant(P<0.05).Conclusion Tongyuan Acupuncture combined with Modified Linggui Zhugan Decoction in the treatment of spleen deficiency and phlegm-damp type of PCOS can effectively improve the sex hormone level of patients and regulate the glucose metabolism of patients.The clinical effect is significant.
4.Clinical characteristics and one-year follow-up outcomes of 6 children with primary nephrotic syndrome infected with SARS-CoV-2 during the Omicron variant epidemic
Rufeng DAI ; Qian SHEN ; Lei YIN ; Yulin KANG ; Yufeng LI ; Jing CHEN ; Mei ZENG ; Hong XU
Chinese Journal of Nephrology 2023;39(10):729-737
Objective:To investigate the clinical characteristics and short-term follow-up outcomes of primary nephrotic syndrome (PNS) children infected with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) during the Omicron variant outbreak in Shanghai, and to provide a reliable reference for clinicians in the diagnosis and treatment.Methods:It was a case-control study. The clinical data of children with PNS (PNS group) who were diagnosed and followed-up up to 1 year in the nephrology department of four children's medical centers in Shanghai, and the children (control group) who had no underlying diseases and were infected with SARS-CoV-2 in Shanghai Jinshan Public Health Center, including the data when they were infected with SARS-CoV-2, were retrospectively analyzed.Results:(1) From March 30th to April 13th, 2022, 6 PNS children in Shanghai were infected with SARS-CoV-2, including 5 boys and 1 girl. The median age was 4.5 (2.0, 11.0) years old. And 30 children were matched by sex, age and disease type as control group, including 20 males and 10 females. The median age was 4.5 (2.0, 9.0) years. There were no significant differences between the PNS group and the control group in clinical symptoms (including fever duration), treatment regimens, vaccine doses and virus clearance time (all P>0.05). (2) The 6 children with PNS included 3 cases of steroid-sensitive type, 3 cases of steroid-resistant type, 2 cases of minimal change disease, 2 cases of focal segmental glomerulosclerosis and 2 cases with no renal biopsy. Before SARS-CoV-2 infection, their primary disease-PNS were stable, and urine protein was negative, four of them were under maintenance treatment with oral steroids or immunosuppressive drugs. At the time of SARS-CoV-2 infection, the symptoms of all of the 6 cases were mild, no severe, critical or fatal cases, and they were all cured and discharged from hospital through medical isolation observation or symptomatic treatment of infections. (3) Five cases of them still had discomfort symptoms such as cough, anorexia, and fatigue after being discharged from the hospital, which lasted for about 1 week. Within 1 year of follow-up, none of the children have suffered from "recurrent positive PCR results" or "secondary infection" of the SARS-CoV-2. (4) Among them, 4 cases of PNS relapsed after SARS-CoV-2 infection, timely addition of steroids was effective, their urine protein quickly turned negative, and there was no recurrence after 1 year of follow-up. (5) Before infection with SARS-CoV-2, the levels of immunoglobulin IgG were lower than the normal reference value in the 4 cases with PNS recurrence. Conclusions:During the Omicron variant outbreak in Shanghai, the infection of SARS-CoV-2 in children with PNS are resulted in high transmission among household contacts. Most of them have mild symptoms and good prognosis. PNS is prone to relapse after SARS-CoV-2 infection, and steroid therapy is effective and safe for these relapse. IgG may be a potential marker for the prognosis of PNS children infected with SARS-CoV-2.
5.Clinical characteristics and short-term prognosis of 22 cases with SARS-CoV-2 infection associated acute encephalopathy.
Chang Hong REN ; Xin Ying YANG ; Zhi Mei LIU ; Xiu Wei ZHUO ; Xiao Di HAN ; Li Fang DAI ; Xiao Juan TIAN ; Wei Xing FENG ; Lin GE ; Tong Li HAN ; Chun Hong CHEN ; Fang FANG
Chinese Journal of Pediatrics 2023;61(6):543-549
Objective: To investigate the clinical features and short-term prognosis of patients with SARS-CoV-2 infection associated acute encephalopathy (AE). Methods: Retrospective cohort study. The clinical data, radiological features and short-term follow-up of 22 cases diagnosed with SARS-CoV-2 infection associated AE in the Department of Neurology, Beijing Children's Hospital from December 2022 to January 2023 were retrospectively analyzed. The patients were divided into cytokine storm group, excitotoxic brain damage group and unclassified encephalopathy group according to the the clinicopathological features and the imaging features. The clinical characteristics of each group were analyzed descriptively. Patients were divided into good prognosis group (≤2 scores) and poor prognosis group (>2 scores) based on the modified Rankin scale (mRS) score of the last follow-up. Fisher exact test or Mann-Whitney U test was used to compare the two groups. Results: A total of 22 cases (12 females, 10 males) were included. The age of onset was 3.3 (1.7, 8.6) years. There were 11 cases (50%) with abnormal medical history, and 4 cases with abnormal family history. All the enrolled patients had fever as the initial clinical symptom, and 21 cases (95%) developed neurological symptoms within 24 hours after fever. The onset of neurological symptoms included convulsions (17 cases) and disturbance of consciousness (5 cases). There were 22 cases of encephalopathy, 20 cases of convulsions, 14 cases of speech disorders, 8 cases of involuntary movements and 3 cases of ataxia during the course of the disease. Clinical classification included 3 cases in the cytokine storm group, all with acute necrotizing encephalopathy (ANE); 9 cases in the excitotoxicity group, 8 cases with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) and 1 case with hemiconvulsion-hemiplegia syndrome; and 10 cases of unclassified encephalopathy. Laboratory studies revealed elevated glutathione transaminase in 9 cases, elevated glutamic alanine transaminase in 4 cases, elevated blood glucose in 3 cases, and elevated D-dimer in 3 cases. Serum ferritin was elevated in 3 of 5 cases, serum and cerebrospinal fluid (CSF) neurofilament light chain protein was elevated in 5 of 9 cases, serum cytokines were elevated in 7 of 18 cases, and CSF cytokines were elevated in 7 of 8 cases. Cranial imaging abnormalities were noted in 18 cases, including bilateral symmetric lesions in 3 ANE cases and "bright tree appearance" in 8 AESD cases. All 22 cases received symptomatic treatment and immunotherapy (intravenous immunoglobulin or glucocorticosteroids), and 1 ANE patient received tocilizumab. The follow-up time was 50 (43, 53) d, and 10 patients had a good prognosis and 12 patients had a poor prognosis. No statistically significant differences were found between the two groups in terms of epidemiology, clinical manifestations, biochemical indices, and duration of illness to initiate immunotherapy (all P>0.05). Conclusions: SARS-CoV-2 infection is also a major cause of AE. AESD and ANE are the common AE syndromes. Therefore, it is crucial to identify AE patients with fever, convulsions, and impaired consciousness, and apply aggressive therapy as early as possible.
Child
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Female
;
Male
;
Humans
;
Retrospective Studies
;
Cytokine Release Syndrome
;
COVID-19/complications*
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SARS-CoV-2
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Brain Diseases/etiology*
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Prognosis
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Seizures
;
Cytokines
6.The mediating effect of resilience on anxiety and subjective well-being in occupational population.
Qiu Wen ZHAO ; Su Hong CHEN ; Xiao Mei LI ; Jun Ling GAO ; Hua FU ; Jun Ming DAI
Chinese Journal of Industrial Hygiene and Occupational Diseases 2023;41(6):434-438
Objective: To explore the current situation of anxiety, subjective well-being in occupational population and the mediating effect of resilience. Methods: From March 24th to 26th, 2020, a cross-sectional survey was conducted among occupational population aged ≥18 years old using online questionnaires. A total of 2134 valid questionnaires were obtained, with respondents from 30 provinces, autonomous regions, and municipalities directly under the Central Government. Their general demographic data, subjective well-being, anxiety, and resilience were collected. Pearson χ(2) test and Spearson correlation analysis were used for data analysis, and structural equation model was used to explore the mediating effect of resilience on anxiety and subjective well-being. Results: The age of the respondents ranged from 18 to 60 years old, with an average age of (31.19±7.09) years old, including 1075 (50.4%) women and 1059 (49.6%) men. The positive rates of low subjective well-being and anxiety were 46.5% (992/2134) and 28.4% (607/2134), respectively. Anxiety scores were significantly negatively correlated with subjective well-being scores and resilience scores (r(s)=-0.52, -0.41, P<0.05), while resilience was significantly positively correlated with subjective well-being (r(s)=0.32, P<0.05). Structural equation models showed that anxiety had a negative predictive effect on subjective well-being, while resilience not only had a positive predictive effect on subjective well-being, but also played a mediating role between anxiety and subjective well-being, with a mediating effect of 9.9%. Conclusion: The situation of anxiety and well-being in the occupational population is still not optimistic, and resilience has a mediating effect between anxiety and subjective well-being.
Male
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Humans
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Female
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Adolescent
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Adult
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Young Adult
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Middle Aged
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Cross-Sectional Studies
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Resilience, Psychological
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Anxiety/epidemiology*
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Stress, Psychological
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Surveys and Questionnaires
7.Anti-depression mechanism of Zuojin Pills:based on UHPLC-TOF-MS, network pharmacology, and experimental verification.
Guo-Liang DAI ; Hua-Xi HANG ; Pei-Yao CHEN ; Sheng-Wei HONG ; Mei-Juan XU ; Cheng-Yao MA ; Qian HUANG ; Yu YE ; Mei-Shuang YU ; Wen-Zheng JU
China Journal of Chinese Materia Medica 2023;48(1):183-192
This study aims to explore the anti-depression mechanism of Zuojin Pills based on the plasma constituents, network pharmacology, and experimental verification. UHPLC-TOF-MS was used for qualitative analysis of Zuojin Pills-containing serum. Targets of the plasma constituents and the disease were retrieved from PharmMapper and GeneCards. Then the protein-protein interaction(PPI) network was constructed and core targets were screened for GO term enrichment and KEGG pathway enrichment. Cytoscape 3.7.2 was employed construct the "compound-target-pathway" network and the targets and signaling pathways of Zuojin Pills against depression were predicted. CUMS-induced depression mouse model was established to verify the key targets. The results showed that a total of 21 constituents migrating to blood of Zuojin Pills were identified, which were mainly alkaloids. A total of 155 common targets of the constituents and the disease and 67 core targets were screened out. KEGG enrichment and PPI network analysis showed that Zuojin Pills may play a role in the treatment of depression through AMPK/SIRT1, NLRP3, insulin and other targets and pathways. Furthermore, the results of animal experiments showed that Zuojin Pills could significantly improve the depression behaviors of depression, reduce the levels of IL-1β, IL-6 and TNF-α in hippocampus and serum, activate AMPK/SIRT1 signaling, and reduce the protein expression of NLRP3. In conclusion, Zuojin Pills may play a role in the treatment of depression by activating AMPK/SIRT1 signaling pathway, and inhibiting NLRP3 activation and neuroinflammation in the hippocampus of mice.
Animals
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Mice
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Network Pharmacology
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AMP-Activated Protein Kinases
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Chromatography, High Pressure Liquid
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NLR Family, Pyrin Domain-Containing 3 Protein
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Sirtuin 1
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Drugs, Chinese Herbal/pharmacology*
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Molecular Docking Simulation
8.Guideline for clinical comprehensive evaluation of Chinese patent medicine (2022 version).
Wei-An YUAN ; Jun-Hua ZHANG ; Jian-Ping LIU ; Zhong-Qi YANG ; Jun-Ling CAO ; Xing LIAO ; Xiao-Yu XI ; Mei HAN ; Wen-Yuan LI ; Zhen-Wen QIU ; Shi-Yin FENG ; Yuan-Yuan GUO ; Lu-Jia CAO ; Xiao-Hong LIAO ; Yan-Ling AI ; Ju HUANG ; Lu-Lu JIA ; Xiang-Fei SU ; Xue WU ; Ze-Qi DAI ; Ji-Hua GUO ; Bing-Qing LU ; Xiao-Xiao ZHANG ; Jian-Yuan TANG
China Journal of Chinese Materia Medica 2023;48(1):256-264
Currently,the research or publications related to the clinical comprehensive evaluation of Chinese patent medicine are increasing,which attracts the broad attention of all circles. According to the completed clinical evaluation report on Chinese patent medicine,there are still practical problems and technical difficulties such as unclear responsibility of the evaluation organization,unclear evaluation subject,miscellaneous evaluation objects,and incomplete and nonstandard evaluation process. In terms of evaluation standards and specifications,there are different types of specifications or guidelines with different emphases issued by different academic groups or relevant institutions. The professional guideline is required to guide the standardized and efficient clinical comprehensive evaluation of Chinese patent medicine and further improve the authority and quality of evaluation. In combination with the characteristics of Chinese patent medicine and the latest research achievement at home and abroad,the detailed specifications were formulated from six aspects including design,theme selection,content and index,outcome,application and appraisal,and quality control. The guideline was developed based on the guideline development requirements of China Assoication of Chinese medicine. After several rounds of expert consensus and public consultation,the current version of the guideline has been developed.
Medicine, Chinese Traditional
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Nonprescription Drugs
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Consensus
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China
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Reference Standards
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Drugs, Chinese Herbal
9.Will male semen quality improve with environmental quality?
Xu-Chao DAI ; Meng-Qi ZHANG ; Gang CHEN ; Kun MEI ; Yan-Long LIU ; Hong HUANG ; Zhi-Gang WU
Asian Journal of Andrology 2023;25(2):252-258
Wenzhou has improved its environmental quality because of comprehensive environmental remediation; nevertheless, the semen quality of infertile males remains unclear. This study determined whether better environmental quality improved semen quality in this region. We recorded semen quality data from 22 962 infertile males from January 2014 to November 2019 at the Center for Reproductive Health of The First Affiliated Hospital of Wenzhou Medical University (Wenzhou, China). Patients were predominantly 30-35 years old (33.1%) and workers (82.0%), with high school education or lower (77.6%); more than a half of the patients (52.6%) were Wenzhou household registration; and most patients (77.5%) had abnormal semen quality. Patients who were older than 40 years and workers, and those with Wenzhou household registration, had significantly worse semen quality (all P < 0.05). From 2014 to 2019, progressive sperm motility, total sperm motility, and semen volume showed increasing linear trends in all patients (P = 0.021, 0.030, and 0.005, respectively), yet normal sperm morphology showed a linearly decreasing trend (P = 0.046). Sensitivity analyses for subgroups yielded similar results. In conclusion, the improvement of environmental quality and better function of the accessory glands are associated with progressive sperm motility, total sperm motility, and semen volume. Normal sperm morphology is influenced by occupational exposures and personal lifestyle and does not improve with environmental quality.
Male
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Humans
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Adult
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Semen Analysis
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Semen
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Sperm Count
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Sperm Motility
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Infertility, Male
;
Spermatozoa
10.Diagnosis status and genetic characteristics analysis of Fanconi anemia in China.
Niu LI ; Die Xin HU ; Xia QIN ; Yi Ping ZHU ; Ming ZHOU ; Lan HE ; Li Xian CHANG ; Xiao Jun XU ; Yan DAI ; Xing Yu CAO ; Kai CHEN ; Hong Mei WANG ; Chun Jing WANG ; Yue Lin HE ; Xiao Wen QIAN ; Lan Ping XU ; Jing CHEN
Chinese Journal of Pediatrics 2023;61(10):889-895
Objective: To analyze the clinical and molecular diagnostic status of Fanconi anemia (FA) in China. Methods: The General situation, clinical manifestations and chromosome breakage test and genetic test results of 107 pediatric FA cases registered in the Chinese Blood and Marrow Transplantation Registry Group (CBMTRG) and the Chinese Children Blood and Marrow Transplantation Registry Group (CCBMTRG) from August 2009 to January 2022 were analyzed retrospectively. Children with FANCA gene variants were divided into mild and severe groups based on the type of variant, and Wilcoxon-test was used to compare the phenotypic differences between groups. Results: Of the 176 registered FA patients, 69 (39.2%) cases were excluded due to lack of definitive genetic diagnosis results, and the remaining 107 children from 15 hospitals were included in the study, including 70 males and 37 females. The age at transplantation treatment were 6 (4, 9) years. The enrolled children were involved in 10 pathogenic genes, including 89 cases of FANCA gene, 7 cases of FANCG gene, 3 cases of FANCB gene, 2 cases of FANCE gene and 1 case each of FANCC, FANCD1, FANCD2, FANCF, FANCJ, and FANCN gene. Compound heterozygous or homozygous of loss-of-function variants account for 69.2% (72/104). Loss-of-function variants account for 79.2% (141/178) in FANCA gene variants, and 20.8% (37/178) were large exon deletions. Fifty-five children (51.4%) had chromosome breakage test records, with a positive rate of 81.8% (45/55). There were 172 congenital malformations in 80 children.Café-au-Lait spots (16.3%, 28/172), thumb deformities (16.3%,28/172), polydactyly (13.9%, 24/172), and short stature (12.2%, 21/172) were the most common congenital malformations in Chinese children with FA. No significant difference was found in the number of congenital malformations between children with severe (50 cases) and mild FANCA variants (26 cases) (Z=-1.33, P=0.185). Conclusions: FANCA gene is the main pathogenic gene in children with FA, where the detection of its exon deletion should be strengthened clinically. There were no phenotypic differences among children with different types of FANCA variants. Chromosome break test is helpful to determine the pathogenicity of variants, but its accuracy needs to be improved.
Male
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Female
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Humans
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Child
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Fanconi Anemia/genetics*
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Chromosome Breakage
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Retrospective Studies
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Exons
;
China/epidemiology*

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