1.Effects of resistance training on quadriceps mass and knee joint function in patients with osteoporosis and sarcopenia
Jian ZHOU ; Tao ZHANG ; Weili ZHOU ; Xingcheng ZHAO ; Jun WANG ; Jie SHEN ; Li QIAN ; Ming LU
Chinese Journal of Tissue Engineering Research 2026;30(5):1081-1088
BACKGROUND:The quadriceps strength of patients with osteoporosis and sarcopenia is significantly reduced,which can further reduce the function of the knee joint,affect the function of the lower limbs and even lead to a decrease in whole-body coordination.It is speculated that a reasonable quadriceps training program and personalized guidance are beneficial to the recovery of knee joint function in patients with osteoporosis and sarcopenia.OBJECTIVE:To observe the effect of short-term moderate-intensity resistance rehabilitation training on the mass and function of the quadriceps and knee joint function in patients with osteoporosis and sarcopenia.METHODS:Using the integrated physical examination and rehabilitation model,375 patients with osteoporosis and sarcopenia were screened at the Health Management Center of Shanghai Public Health Clinical Center.They underwent 12 weeks of combined/comprehensive exercise rehabilitation based on resistance exercise,including quadriceps resistance isotonic and isometric contraction training twice a week(3-5 sets each time,10-15 minutes per set)and aerobic exercise/balance exercise two or three times a week(30 minutes each time).Assessments and data collection were performed before rehabilitation training,12 weeks after rehabilitation training,and at follow-up 12 weeks after stopping rehabilitation training,mainly including knee joint range of motion and proprioception,quadriceps muscle strength,and cross-sectional area(magnetic resonance imaging results),pain,knee joint function(Hospital for Special Surgery score)and walking function("up-and-go"time and 6 m pace test results)as well as the patient's psychological status assessment.RESULTS AND CONCLUSION:All 375 patients completed 12 weeks of rehabilitation training and 12 weeks of follow-up without any adverse events.(1)Compared with before training,the patients' gait speed and knee range of motion increased significantly after 12 weeks of rehabilitation training(P<0.01),the time of"stand-to-walk"decreased(P<0.01),and the proprioception of the knee joint and the strength of the quadriceps femoris were significantly improved(P<0.01);and at the follow-up visit 12 weeks after stopping training,the above indicators and functions of the patients were well maintained(P>0.05).(2)Magnetic resonance imaging results showed that the effective cross-sectional area of the quadriceps femoris did not improve significantly after 12 weeks of rehabilitation training(P>0.05);but the Hospital for Special Surgery score of knee joint function increased significantly(P<0.01),and the visual analog pain scale score decreased significantly(P<0.01),suggesting that this may be related to the improvement of quadriceps femoris quality by resistance rehabilitation training.(3)The results of the Hospital Anxiety and Depression Scale score showed that the anxiety and depression scores of the patients continued to decrease,both at 12 weeks of rehabilitation training and at 12 weeks after stopping training(P<0.01).It is suggested that resistance rehabilitation training of the quadriceps can help patients with osteoporosis and sarcopenia to restore quadriceps muscle strength,increase range of motion,improve proprioception and joint stability,thereby enhancing knee joint function,reducing pain,improving depression and anxiety,and to a certain extent promoting the coordinated recovery of the musculoskeletal system.
2.Effects of resistance training on quadriceps mass and knee joint function in patients with osteoporosis and sarcopenia
Jian ZHOU ; Tao ZHANG ; Weili ZHOU ; Xingcheng ZHAO ; Jun WANG ; Jie SHEN ; Li QIAN ; Ming LU
Chinese Journal of Tissue Engineering Research 2026;30(5):1081-1088
BACKGROUND:The quadriceps strength of patients with osteoporosis and sarcopenia is significantly reduced,which can further reduce the function of the knee joint,affect the function of the lower limbs and even lead to a decrease in whole-body coordination.It is speculated that a reasonable quadriceps training program and personalized guidance are beneficial to the recovery of knee joint function in patients with osteoporosis and sarcopenia.OBJECTIVE:To observe the effect of short-term moderate-intensity resistance rehabilitation training on the mass and function of the quadriceps and knee joint function in patients with osteoporosis and sarcopenia.METHODS:Using the integrated physical examination and rehabilitation model,375 patients with osteoporosis and sarcopenia were screened at the Health Management Center of Shanghai Public Health Clinical Center.They underwent 12 weeks of combined/comprehensive exercise rehabilitation based on resistance exercise,including quadriceps resistance isotonic and isometric contraction training twice a week(3-5 sets each time,10-15 minutes per set)and aerobic exercise/balance exercise two or three times a week(30 minutes each time).Assessments and data collection were performed before rehabilitation training,12 weeks after rehabilitation training,and at follow-up 12 weeks after stopping rehabilitation training,mainly including knee joint range of motion and proprioception,quadriceps muscle strength,and cross-sectional area(magnetic resonance imaging results),pain,knee joint function(Hospital for Special Surgery score)and walking function("up-and-go"time and 6 m pace test results)as well as the patient's psychological status assessment.RESULTS AND CONCLUSION:All 375 patients completed 12 weeks of rehabilitation training and 12 weeks of follow-up without any adverse events.(1)Compared with before training,the patients' gait speed and knee range of motion increased significantly after 12 weeks of rehabilitation training(P<0.01),the time of"stand-to-walk"decreased(P<0.01),and the proprioception of the knee joint and the strength of the quadriceps femoris were significantly improved(P<0.01);and at the follow-up visit 12 weeks after stopping training,the above indicators and functions of the patients were well maintained(P>0.05).(2)Magnetic resonance imaging results showed that the effective cross-sectional area of the quadriceps femoris did not improve significantly after 12 weeks of rehabilitation training(P>0.05);but the Hospital for Special Surgery score of knee joint function increased significantly(P<0.01),and the visual analog pain scale score decreased significantly(P<0.01),suggesting that this may be related to the improvement of quadriceps femoris quality by resistance rehabilitation training.(3)The results of the Hospital Anxiety and Depression Scale score showed that the anxiety and depression scores of the patients continued to decrease,both at 12 weeks of rehabilitation training and at 12 weeks after stopping training(P<0.01).It is suggested that resistance rehabilitation training of the quadriceps can help patients with osteoporosis and sarcopenia to restore quadriceps muscle strength,increase range of motion,improve proprioception and joint stability,thereby enhancing knee joint function,reducing pain,improving depression and anxiety,and to a certain extent promoting the coordinated recovery of the musculoskeletal system.
3.Predictive value of serum inflammatory factor expression levels in multidrug-resistant pulmonary tuberculosis
Min FANG ; Zhiyu WU ; Chunxian PENG ; Weili LU ; Tao LU
Chongqing Medicine 2025;54(11):2572-2576
Objective To analyze the predictive value of serum inflammatory factors in multidrug-re-sistant pulmonary tuberculosis.Methods A total of 151 newly treated pulmonary tuberculosis patients admit-ted to Quzhou Hospital Affiliated to Wenzhou Medical University from February 2021 to February 2023 were enrolled for standardized treatment.Based on whether multidrug resistance developed after treatment,patients were divided into multidrug-resistant group and non-multidrug-resistant group.Pretreatment serum levels of inflammatory factors were measured and compared between groups,including hypersensitive C-reactive pro-tein(hs-CRP),procalcitonin(PCT),IL-1α,IL-1β,IL-1 receptor antagonist(IL-1RA),IL-2,IL-4,IL-5,IL-6,IL-8,IL-9,IL-10,IL-12,IL-13,IL-15,IL-17,IL-18,IL-22,IL-35,tumor necrosis factor-α(TNF-α),TNF-γ,and CD40 ligand(CD40L).Logistic regression identified influencing factors for multidrug-resistant pulmonary tu-berculosis.Receiver operating characteristic(ROC)curves evaluated the predictive value of these indicators.Results The incidence of multidrug-resistant pulmonary tuberculosis was 21.85%(33/151).The levels of se-rum inflammatory factors in the drug-resistant group were higher than those in the non-drug-resistant group before treatment(P<0.05).History of alcohol consumption,presence of cavities,severe illness,adherence to treatment,and pre-treatment serum hs-CRP,PCT,IL-6,IL-18,TNF-α levels were all influencing factors for multidrug resistance in pulmonary tuberculosis patients(P<0.05).The sensitivity and area under curve(AUC)of the combined prediction of serum hs-CRP,PCT,IL-6,IL-18,TNF-α levels before treatment for multidrug-resistant pulmonary tuberculosis were higher than those of individual predictions.Conclusion The levels of serum inflammatory factors are related to multidrug resistance in pulmonary tuberculosis,and the combina-tion of serum hs-CRP,PCT,IL-6,IL-18,TNF-α can predict multidrug resistance in pulmonary tuberculosis.
4.Current situation investigation and analysis of influencing factors on the long-term quality of life of cured and discharged patients with severe acute pancreatitis.
Wenjun ZHOU ; Pinjie ZHANG ; Weili YU ; Zhonghua LU ; Mingjuan LI ; Lijun CAO ; Lu FU ; Shaokang WANG ; Yun SUN
Chinese Critical Care Medicine 2025;37(2):146-152
OBJECTIVE:
To investigate the current status of long-term quality of life in patients with severe acute pancreatitis (SAP) who have been cured and discharged, and to analyze the influencing factors affecting long-term quality of life in SAP cured patients after discharge.
METHODS:
A retrospective collection was conducted. Patients who were received standardized treatment before being cured and discharged from the hospital admitted to the first department of critical care medcine of the Second Affiliated Hospital of Anhui Medical University from January 2017 to December 2023 were enrolled. According to the 36-item short form health survey scale (SF-36) score, patients were divided into high score group (high quality of life, the top 50% of patients with total SF-36 score) and low score group (low quality of life, the bottom 50% of patients with total SF-36 score). The gender, age, history of hypertension and diabetes, etiology of pancreatitis, acute physiology and chronic health evaluation II (APACHE II), sequential organ failure assessment (SOFA), CT severity index (CTSI), laboratory indicators such as C-reactive protein (CRP), procalcitonin (PCT), blood glucose, and triglycerides upon admission, use of vasoactive drugs, non-invasive/high-flow ventilation, invasive ventilation, retroperitoneal puncture and drainage, open pancreatic surgery treatment and secondary infection during hospitalization were collected, as well as the retention of abdominal drainage tubes at discharge from hospital. Distribute follow-up questionnaires or telephone follow-up surveys through WeChat and Question Star programs to investigate the pancreatic secretion function, chronic abdominal pain, and recurrence of pancreatitis of patients after discharge. Multivariable Logistic regression was used to analyze the relevant factors affecting the long-term quality of life of cured patients with SAP.
RESULTS:
A total of 86 patients were ultimately enrolled. There were 43 patients in both the high and low score groups. Among 86 patients, 20 experienced acute pancreatitis recurrence, with a recurrence rate of 23.26%. Twenty-two (25.58%) experienced chronic abdominal pain after discharge, and 5 patients (5.81%) needed medication to relieve pain. Thirty-three patients (38.37%) had pancreatic exocrine dysfunction after discharge, characterized by abdominal distension, constipation or diarrhea. Twenty-two patients (25.58%) suffered from pancreatic endocrine dysfunction, and were diagnosed with diabetes. Univariate analysis showed that compared with the high score group, the low score group had more patients with hypertension, initial renal dysfunction, initial severe metabolic acidosis, initial serum calcium < 2.0 mmol/L, blood glucose > 11.1 mmol/L and cultured Gram positive bacteria (from blood/body fluid/pancreatic necrotic tissue) during treatment (48.84% vs. 16.28%, 60.47% vs. 32.56%, 18.60% vs. 4.65%, 88.37% vs. 62.79%, 55.81% vs. 30.23%, 34.88% vs. 13.95%), had higher CTSI score (6.60±1.61 vs. 5.77±1.32), lower hemoglobin level at discharge (g/L: 102.30±18.78 vs. 110.72±16.68), and a lower proportion of etiological interventions after discharge (34.88% vs. 67.44%), the differences were statistically significant (all P < 0.05). Multivariate Logistic regression analysis showed that hypertension [odds ratio (OR) = 4.814, 95% confidence interval (95%CI) was 1.196-19.378], initial serum calcium < 2.0 mmol/L (OR = 6.688, 95%CI was 1.321-33.873) and initial blood glucose > 11.1 mmol/L (OR = 6.473, 95%CI was 1.399-29.950) were risk factors for long-term quality of life in cured SAP patients (all P < 0.05), while post discharge prophylactic intervention was a protective factor for long-term quality of life (OR = 0.092, 95%CI was 0.020-0.425, P < 0.01).
CONCLUSIONS
Cured SAP patients have varying degrees of impaired secretion function and the possibility of recurrence of acute pancreatitis. Hypertension, initial serum calcium < 2.0 mmol/L and blood glucose > 11.1 mmol/L are independent influencing factors for low long-term quality of life in cured SAP patients. Prevention and intervention targeting the etiology of pancreatitis after discharge can improve the long-term quality of life of cured SAP patients.
Humans
;
Quality of Life
;
Retrospective Studies
;
Pancreatitis/therapy*
;
Patient Discharge
;
Male
;
Female
;
Middle Aged
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APACHE
;
Adult
;
Acute Disease
;
Aged
5.Latent profile analysis of organizational involution among ICU nurses and its relationship with job burnout
Wendan WANG ; Yunyan LU ; Dandan YANG ; Weili ZHAO
Chinese Journal of Modern Nursing 2025;31(29):4009-4013
Objective:To explore the different categories of organizational involution among ICU nurses and its relationship with job burnout, so as to provide a basis for optimizing medical organization management strategies.Methods:From January to February 2025, 318 ICU nurses from four ClassⅢ hospitals in Taizhou City were selected as research subjects using convenience sampling. The General Information Questionnaire, Nursing Burnout Scale, and Organizational Involution Scale were used to conduct the survey. Latent profile analysis was used to identify latent categories of organizational involution among ICU nurses, and one-way analysis of variance was used to explore differences in ICU nurses' job burnout scores across different latent categories of organizational involution. A total of 318 questionnaires were distributed, and 306 valid questionnaires were returned, with a valid return rate of 96.23%.Results:The 306 ICU nurses' organizational involution was divided into three latent categories of low involution-high efficiency group (34.97%, 107/306), moderate involution-systemic consumption group (42.81%, 131/306), and high involution-total imbalance group (22.22%, 68/306). There were statistically significant differences in job burnout scores between different latent categories of organizational involution among ICU nurses ( P<0.05) . Conclusions:The overall level of organizational involution among ICU nurses is moderately high, and there is heterogeneity. There is a correlation between organizational involution and job burnout. Nursing managers should optimize organizational management, break the negative cycle of organizational involution and job burnout, and improve nurses' job satisfaction.
6.Impulsive characteristics and emotion regulation strategies of patients with attention deficit hyperactivity disorder comorbid with borderline personality disorder
Weili CHANG ; Haimei LI ; Meirong PAN ; Mengjie ZHAO ; Min DONG ; Feifei SI ; Yufeng WANG ; Lu LIU ; Qiujin QIAN
Chinese Mental Health Journal 2025;39(12):1013-1018
Objective:To explore the impulsivity characteristics of patients with attention deficit hyperactivity disorder(ADHD)comorbid with borderline personality disorder(BPD)and the mediating role of emotion regula-tion strategies.Methods:A total of 96 patients with ADHD meeting the diagnostic criteria of the American Diagnos-tic and Statistical Manual of Mental Disorders,Fourth Edition(DSM-Ⅳ)were enrolled,48 of whom had comorbid BPD.Impulsivity was assessed with the Barratt Impulse Scale(BIS)and the impulse control difficulty dimensions of Emotional Regulation Difficulty Scale(DERS).Emotion regulation strategies were evaluated with the Emotion Regulation Questionnaire(ERQ).Results:No significant differences were found between the ADHD with and with-out BPD group in cognitive impulsivity,motor impulsivity,or non-planning impulsivity as assessed with the BIS(Ps>0.05).However,the ADHD with BPD group showed higher scores on the DERS impulse control difficulty subscale(P<0.001)and less frequent use of cognitive reappraisal strategies(P<0.001).Cognitive reappraisal partially mediated the relationship between ADHD with BPD and impulse control difficulties,with an effect size of 25.9%.Conclusion:ADHD patients comorbid with BPD exhibit heightened emotional impulsivity,which might be partially mediated by reduced use of cognitive reappraisal.
7.Expert consensus on surgical treatment and rehabilitation for competitive sports athletes returning to sports after anterior cruciate ligament injury (version 2025)
Kai HUANG ; Lunhao BAI ; Qing BI ; Hong CHEN ; Jiwu CHEN ; Xuesong DAI ; Wenyong FEI ; Weili FU ; Zhizeng GAO ; Lin GUO ; Yinghui HUA ; Jingmin HUANG ; Suizhu HUANG ; Xuan HUANG ; Jian LI ; Qiang LI ; Shuzhen LI ; Yanlin LI ; Yunxia LI ; Zhong LI ; Ning LIU ; Yuqiang LIU ; Wei LU ; Hongbin LYU ; Haile PAN ; Xiaoyun PAN ; Chao QI ; Weiliang SHEN ; Luning SUN ; Jin TANG ; Zimin WANG ; Bide WANG ; Ru WANG ; Shaobai WANG ; Licheng WEI ; Weidong XU ; Yongsheng XU ; Jizhou YANG ; Liang YANG ; Rui YANG ; Hongbo YOU ; Tengbo YU ; Jiakuo YU ; Bing YUE ; Hua ZHANG ; Hui ZHANG ; Qingsong ZHANG ; Xintao ZHANG ; Jiajun ZHAO ; Lilian ZHAO ; Qichun ZHAO ; Song ZHAO ; Jiapeng ZHENG ; Jiang ZHENG ; Zhi ZHENG ; Jingbin ZHOU ; Jinzhong ZHAO
Chinese Journal of Trauma 2025;41(4):325-338
With the rapid development of competitive sports, the incidence of anterior cruciate ligament (ACL) injury is on the rise. Such injuries may shorten athletes′ career and lead to other long-term adverse consequences. Although athletes generally recover well after ACL reconstruction, many still struggle to return to their pre-injury performance levels. Advances in the understanding of ACL anatomy and injury mechanisms, along with the evolution of surgical techniques and rehabilitation methods, have provided more individualized and tailored options for athletes following ACL injuries. However, there is currently no consensus in China regarding surgical and rehabilitation strategies for competitive athletes aiming to return to sports after ACL injuries. To this end, the Sports Medicine Committee of the Chinese Research Hospital Association and the Editorial Board of the Chinese Journal of Trauma jointly formulated the Expert consensus on surgical treatment and rehabilitation for competitive sports athletes returning to sports after anterior cruciate ligament injury ( version 2025), and presented 14 recommendations covering surgical indications, preoperative rehabilitation, surgical timing, surgical strategies and postoperative rehabilitation strategies, aiming to improve the surgical treatment and rehabilitation system for ACL injuries in competitive athletes and facilitate their return to high-level sports performance after injury.
8.Clinical features and prognosis of splenic marginal zone lymphoma with POD24
Lu WANG ; Qing SHI ; Weili ZHAO ; Li WANG
Chinese Journal of Hematology 2025;46(1):81-87
Objective:To investigate the clinical characteristics, prognosis, and risk factors associated with disease progression within 24 months (POD24) after diagnosis in patients with splenic marginal zone lymphoma (SMZL) .Methods:Clinical data from 88 newly diagnosed SMZL patients treated at Ruijin Hospital, Shanghai Jiaotong University School of Medicine, between December 2009 and October 2022, were retrospectively analyzed. Patients were grouped based on the presence of POD24 for prognostic evaluation and comparison of clinical features.Results:There were 45 males (51.1% ) and 43 females (48.9% ), with a median age of 59 (24-82) years at the time of diagnosis. Ten (11.4% ) cases occurred POD24. The overall survival (OS) time and progression- free survival (PFS) time in the POD24 group were shorten than non-POD24 group [median OS time: 77 (11-159) months vs not reached, P<0.001; 15 (4-24) months vs 121 (24-154) months, P<0.001]. Univariate Cox analysis showed that Eastern Cooperative Oncology Group (ECOG) score ≥ 2 [ HR=8.942 (95% CI 1.097-72.910), P=0.041], age-adjusted International Prognostic Index (aaIPI) score of high-risk [ HR=5.070 (95% CI 1.256-20.461), P=0.023], POD24 [ HR=14.049 (95% CI 3.339-59.107), P<0.001], occurrence of tissue transformation [ HR=7.819 (95% CI 1.952-31.316), P=0.004], and disease unremission status after initial treatment [ HR=6.080 (95% CI 1.439-25.690), P=0.014] were the influencing factors for OS in SMZL patients. Multivariate analysis showed that POD24 [ HR=5.859 (95% CI 1.249–27.475), P=0.025] and occurrence of tissue transformation [ HR=5.520 (95% CI 1.050-29.009), P=0.044] were independent prognostic factors affecting OS. Univariate logistic analysis showed that ECOG ≥ 2 [ HR=7.556 (95% CI 1.498-38.110), P=0.014], high risk of aaIPI score [ HR=5.500 (95% CI 1.378- 21.945), P=0.016], occurrence of tissue transformation [ HR=8.000 (95% CI 1.759-36.383), P=0.007], and disease unremission status after initial treatment [ HR=9.136 (95% CI 2.216-37.675), P=0.002] were the influencing factors of POD24. Multifactorial analysis showed that disease unremission after initial treatment [ HR=8.253 (95% CI 1.681- 40.518), P=0.009] was an independent risk factor affecting POD24. Conclusions:POD24 and tissue transformation are independent poor prognostic factors for OS in SMZL patients. Patients with POD24 are at a higher risk of developing tissue transformation. The failure to alleviate the disease after initial treatment is an independent risk factor affecting POD24 patients.
9.Genetic re-analysis of a Chinese pedigree affected with Hypertrophic cardiomyopathy due to a heterozygous truncating variant of ALPK3 gene and literature review.
Chenliang HONG ; Xianhong DING ; Yang LU ; Jia ZHU ; Jinwei WANG ; Mengyi XU ; Shuaishuai CHEN ; Bo SHEN ; Weili GE
Chinese Journal of Medical Genetics 2025;42(11):1337-1346
OBJECTIVE:
To explore the clinical and genetic characteristics of a Chinese pedigree affected with Hypertrophic cardiomyopathy (HCM) due to a truncating variant of ALPK3 gene.
METHODS:
A 44-year-old male admitted to Taizhou Hospital of Zhejiang Province on December 29, 2018 was selected as the study subject. Whole-exome sequencing (WES) was carried out, and candidate variant was interpreted by following the guidelines from the American College of Medical Genetics and Genomics (ACMG). For ALPK3 was considered an autosomal recessive gene, the WES results was considered insufficient to explain his phenotype. In April 2023, the proband's WES data were re-analyzed using updated annotation pipelines, and peripheral blood samples were collected from his first-degree relatives (mother and brother) for Sanger sequencing validation. Conservation analysis and protein structural modeling were performed to assess the impact of the variant. Clinical evaluation and genetic counseling were provided to the proband's family members. Relevant literature on ALPK3tv-induced HCM patients were searched in Wanfang Data Knowledge Service Platform, CNKI, and PubMed database using "ALPK3" and "hypertrophic cardiomyopathy" as keywords. Clinical characteristics of HCM patients with heterozygous ALPK3tv variants were summarized and compared with the clinical characteristics of HCM patients with positive sarcomere-associated gene variants (SARC+). This study was approved by the Medical Ethics Committee of Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University (Ethics No.: K20230314).
RESULTS:
The proband was a 44-year-old male who was transferred to our institution on December 29, 2018 due to "chest tightness and pain for 6 months, exacerbated for 2 days". Emergency coronary angiography was performed, which led to a preliminary diagnosis of "acute coronary syndrome", and the patient was admitted to the Cardiology Department for treatment. Based on electrocardiogram and echocardiogram findings, the diagnosis was revised as HCM. The patient's condition has stabilized post-coronary angiography, and he was discharged with improved condition. On January 2019, WES was conducted to determine the etiology of the proband's HCM. WES results identified a novel heterozygous c.2156dupC (p.Pro720ThrfsTer53) truncating variant in the ALPK3 gene. At that time, the inheritance pattern could not explain the phenotype. In 2022, a literature indicated that heterozygous ALPK3tv could lead to autosomal dominant HCM. Consequently, in April 2023, the proband's whole-exome data were re-annotated, revealing changes in the transcript and protein versions, with the updated site annotated as ALPK3 (NM_020778.5): c.1550dupC (p.Pro518ThrfsTer53). Sanger sequencing confirmed that the proband's mother and brother also carried this variant. The mother exhibited obstructive HCM, while the brother showed no related phenotype. Bioinformatics analysis demonstrated conservation of this site across multiple species, and the variant has resulted in the loss of a protein domain. Based on ACMG guidelines, the variant was classified as likely pathogenic. Literature review and Bayesian calculation further elevated the pathogenicity rating, indicating that this variant was the cause of HCM in the patient. Literature study revealed distinctions between HCM caused by this variant type and SARC+ HCM. The age of onset among heterozygous ALPK3tv patients was delayed by approximately 10 years compared to SARC+ patients. Both forms of HCM exhibited a male predominance, which was particularly marked in individuals with ALPK3tv. Electrocardiographic left ventricular hypertrophy was more prevalent in heterozygous ALPK3tv patients than in SARC+ patients. The incidence of apical or concentric hypertrophy patterns was higher in heterozygous ALPK3tv patients compared to asymmetric septal hypertrophy, which predominated in SARC+ patients. ALPK3tv patients exhibited lower penetrance and later onset compared to SARC+ patients. A positive correlation between left ventricular wall thickness and age was noted in female patients only.
CONCLUSION
In this pedigree, the proband has presented with HCM, characterized by echocardiographic evidence of apical left ventricular hypertrophy without significant outflow tract obstruction or extracardiac phenotypes. Although his mother and brother had carried the same heterozygous ALPK3 (NM_020778.5) c.1550dupC (p.Pro518ThrfsTer53), the mother exhibited severe obstructive HCM, while the brother was asymptomatic, suggesting incomplete or age-dependent penetrance within the family. This study has enriched the evidence for the pathogenicity of ALPK3tv among Chinese HCM pedigrees and underscored the importance of periodic literature reviews and genetic re-analysis for unresolved genetic testing results.
Humans
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Male
;
Pedigree
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Adult
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Cardiomyopathy, Hypertrophic/genetics*
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Heterozygote
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Asian People/genetics*
;
Exome Sequencing
;
Mutation
;
China
;
Female
;
East Asian People
10.Gut microbiota modulates immune reconstitution in allogeneic hematopoietic stem cell transplantation
Haiyang LU ; Weili ZHAO ; Xiaoxia HU
The Journal of Practical Medicine 2025;41(5):628-633
As a symbiotic microbial community within the human body,the gut microbiota plays a crucial role in modulating various physiological processes,including metabolism,immunity,and endocrine function.During allogeneic hematopoietic stem cell transplantation(allo-HSCT),the hematopoietic and immune systems undergo significant changes,which are also influenced by the gut microbiota.Specifically,regarding hematopoietic function,the gut microbiota facilitates the multi-lineage differentiation of hematopoietic stem cells via NOD1-STATs and TLRs-MyD88 signaling pathways,and promotes rapid granulomonocytic lineage differentiation under infection stress.Consequently,early-stage primary graft dysfunction following transplantation may be associated with gut microbiota dysbiosis.In terms of immune function,the gut microbiota enhances the expression of antigen-presenting molecules on intestinal epithelial cells,thereby initiating acute graft-versus-host disease(aGVHD)in the gastrointestinal tract.Moreover,the gut microbiota regulates intestinal immune function through metabolites such as short-chain fatty acids,bile acids,and indole derivatives.Dysbiosis of the gut microbiota can lead to disrup-tion of the intestinal mucus barrier and immune barrier functions,further promoting the onset and progression of aGVHD in the gastrointestinal tract.Therefore,targeting the gut microbiota has emerged as an attractive therapeutic strategy and has been clinically applied.Notably,fecal microbiota transplantation combined with immunosuppressive therapy has shown significant efficacy in alleviating clinical severity and improving prognosis in steroid-refractory aGVHD,demonstrating high safety and manageable adverse reactions,representing a novel breakthrough in its treatment.

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