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Blood prestin levels in COVID-19 patients. COVID-19患者血prestin水平
IF 3 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-06-01 DOI: 10.1097/JCMA.0000000000000919
Mahfuz Turan, Hamit Hakan Alp, Hanifi Yildiz, Ali İrfan Baran, Selami Ekin, Ramazan Akin, Ahmet Arisoy, Yaser Said Çetin, Aydin Turan, Nazim Bozan

Background: Many studies have found that viral infections affect different tissues, including the inner ear. Coronavirus disease 2019 (COVID-19), a viral infection, is a significant health problem worldwide. Prestin is a motor protein with important functions both in the outer hair cells of the inner ear and in cardiac tissue. In addition, prestin is promising as an early biomarker in the detection of ototoxicity. To determine the severity of infection in COVID-19 patients and to determine whether other tissues are affected by the infection, lactate dehydrogenase (LDH), C-reactive protein (CRP), alanine aminotransferase (ALT), aspartate aminotransferase (AST), creatine kinase MB (CK-MB), biochemical markers such as ferritin and D-dimer are used. This study aimed to compare prestin levels in patients with COVID-19 and healthy volunteers.

Methods: In blood samples taken from 45 patients diagnosed with COVID-19 and 40 healthy volunteers, prestin levels were determined with the kit that used an enzyme-linked immunosorbent assay method and was commercially available. At the same time, LDH, CRP, ALT, AST, CK-MB, ferritin, and D-dimer levels were also detected in both patients and healthy control groups and correlations with prestin levels were examined.

Results: The main result of our study is that serum prestin levels in COVID-19 patients are significantly higher than in healthy controls ( p < 0.001). In addition, a statistically significant strong positive correlation was found between prestin-LDL ( r = 0.537, p = 0.001), prestin-CRP ( r = 0.654, p = 0.001), and prestin-D-dimer ( r = 0.659, p = 0.001).

Conclusion: The levels of prestin, a motor protein in inner ear outer hair cells and cardiac myocytes, were found to be higher in COVID-19 patients than in healthy volunteers. It also showed a positive correlation with CRP and D-dimer. This may be associated with systemic dysfunction.

背景:许多研究发现病毒感染影响不同的组织,包括内耳。2019冠状病毒病(COVID-19)是一种病毒感染,是全球重大的健康问题。Prestin是一种运动蛋白,在内耳外毛细胞和心脏组织中都有重要的功能。此外,普司汀有望作为耳毒性检测的早期生物标志物。应用乳酸脱氢酶(LDH)、c反应蛋白(CRP)、丙氨酸转氨酶(ALT)、天冬氨酸转氨酶(AST)、肌酸激酶MB (CK-MB)、铁蛋白、d -二聚体等生化指标判断COVID-19患者感染的严重程度及其他组织是否受感染。这项研究旨在比较COVID-19患者和健康志愿者的prestin水平。方法:采用市售的酶联免疫吸附测定试剂盒检测45例COVID-19确诊患者和40例健康志愿者的血液样本中prestin水平。同时检测两组患者及健康对照组的LDH、CRP、ALT、AST、CK-MB、铁蛋白、d -二聚体水平,并分析与prestin水平的相关性。结果:我们研究的主要结果是COVID-19患者血清prestin水平显著高于健康对照组(p < 0.001)。此外,prestin-LDL (r = 0.537, p = 0.001)、prestin-CRP (r = 0.654, p = 0.001)和prestin- d -二聚体(r = 0.659, p = 0.001)之间存在统计学上显著的强正相关。结论:新冠肺炎患者内耳外毛细胞和心肌细胞中的运动蛋白prestin水平高于健康志愿者。与CRP、d -二聚体呈正相关。这可能与全身功能障碍有关。
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引用次数: 0
Nerve-sparing robotic-assisted radical prostatectomy is not associated with an increased rate of positive surgical margins. 保留神经的机器人辅助根治性前列腺切除术与手术切缘阳性率的增加无关。
IF 3 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-06-01 DOI: 10.1097/JCMA.0000000000000891
Yiu-Tai Li, Wen-Hsun Chang
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引用次数: 1
Transient visual disturbances are associated with disability and suicide risk in patients with migraine without aura. 无先兆偏头痛患者的短暂性视觉障碍与残疾和自杀风险相关。
IF 3 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-06-01 DOI: 10.1097/JCMA.0000000000000912
Yu-Chien Tsao, Yen-Feng Wang, Jong-Ling Fuh, Wei-Ta Chen, Kuan-Lin Lai, Hung-Yu Liu, Shuu-Jiun Wang, Shih-Pin Chen

Background: To investigate the characteristics and clinical correlates of transient visual disturbances (TVDs) in patients with migraine without aura (MO). Patients with MO frequently report TVDs, which differ from typical visual aura, but the clinical significance of these TVDs has not been determined.

Methods: Patients with MO who attended our headache clinics were enrolled. Structured questionnaires were used to acquire data on participants' headache profiles, disability, comorbidities, and lifetime suicidal ideation and suicide attempts. A semistructured visual phenomenon questionnaire was used to characterize TVDs. Headache specialists interviewed the participants for diagnosis and the verification of questionnaire responses.

Results: Patients with MO (n = 7200; female/male ratio = 3.56, mean age 40.1 ± 13.4 years) were divided into two groups based on the presence (n = 2488) or absence (n = 4712) of TVDs. Patients with TVDs had more headache-related disability, psychiatric comorbidities, and photophobia than did those without TVDs. Suicidal ideation and suicide attempts were more common among patients with than among those without TVDs [ideation: odds ratio (OR) = 1.92, 95% confidence interval (CI) 1.71-2.15, p < 0.001; suicide attempt: OR = 2.23, 95% CI 1.80-2.75, p < 0.001].

Conclusion: The presence of TVDs may imply greater migraine-related disability, photophobia, and suicidal ideation/suicide attempt risk in patients with MO.

背景:探讨无先兆偏头痛(MO)患者一过性视觉障碍(TVDs)的特点及临床相关因素。MO患者经常报告TVDs,与典型的视觉先兆不同,但这些TVDs的临床意义尚未确定。方法:纳入到我们头痛门诊就诊的MO患者。采用结构化问卷来获取参与者头痛概况、残疾、合并症、终生自杀意念和自杀企图的数据。采用半结构化的视觉现象问卷对tvd进行表征。头痛专家对参与者进行了访谈,以进行诊断并验证问卷的回答。结果:MO患者(n = 7200;男女比为3.56,平均年龄(40.1±13.4)岁),根据有无tvd (n = 4712)分为两组。与没有tvd的患者相比,tvd患者有更多的头痛相关残疾、精神合并症和畏光症。有tvd的患者比无tvd的患者有更多的自杀意念和自杀企图[意念:比值比(OR) = 1.92, 95%可信区间(CI) 1.71 ~ 2.15, p < 0.001;自杀企图:OR = 2.23, 95% CI 1.80-2.75, p < 0.001]。结论:tvd的存在可能意味着MO患者偏头痛相关残疾、畏光和自杀意念/自杀企图的风险更大。
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引用次数: 0
Survival analysis of malignant peripheral nerve sheath tumor: Experience of a tertiary center in Taiwan. 恶性周围神经鞘肿瘤的生存分析:台湾某三级中心的经验。
IF 3 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-06-01 DOI: 10.1097/JCMA.0000000000000930
Yu-Wei Chang, Wen-Chieh Liao

Background: This study aimed to analyze the demographic characteristics and prognostic factors of malignant peripheral nerve sheath tumor (MPNST) in a Taiwanese population. Single-center treatment outcomes were also presented.

Methods: This retrospective cohort study analyzed the medical records of 54 patients with pathological diagnoses of MPNSTs from 2005 to 2021 at a single institution. The primary endpoint was the 5-year overall survival rate of MPNST, and the secondary endpoint was recurrence-free 5-year survival. Variables including patient characteristics, metastasis status at initial diagnosis, and surgical outcomes were analyzed with competing risk analysis.

Results: Among all 41 eligible patients diagnosed with MPNST, female predominance was noted, and the median age at diagnosis was 44 years. The most common site of lesion was found at the trunk (46.34%), and eight patients were diagnosed with notable metastasis. Twelve patients were diagnosed with type 1 neurofibromatosis (NF1). The 5-year overall survival rate was 36.84% and the 5-year recurrence-free survival was 28.95%. Metastasis diagnosed at presentation, large lesion sizes, and recurrence were identified as significant poor prognostic factors of survival. Metastasis diagnosed at presentation was identified as the only significant risk factor of recurrence.

Conclusion: In our series, metastasis diagnosed at presentation, large lesion sizes, and recurrence were identified as significant poor prognostic factors of survival. Metastasis was also identified as the only significant risk factor of recurrence. NF1-associated MPNSTs presented with significantly larger tumor sizes and additional treatment postoperatively did not significantly improve survival. The limitations of this study include its retrospective nature and sample size.

背景:本研究旨在分析台湾人群恶性周围神经鞘肿瘤(MPNST)的人口学特征及预后因素。还介绍了单中心治疗的结果。方法:本回顾性队列研究分析了同一医院2005年至2021年病理诊断为MPNSTs的54例患者的病历。主要终点是MPNST的5年总生存率,次要终点是无复发的5年生存率。变量包括患者特征、初始诊断时的转移状态和手术结果,并采用竞争风险分析进行分析。结果:41例符合条件的MPNST患者中,女性居多,诊断时的中位年龄为44岁。病变部位以躯干居多(46.34%),8例患者有明显转移。12例患者诊断为1型神经纤维瘤病(NF1)。5年总生存率为36.84%,5年无复发生存率为28.95%。在表现时诊断为转移,病变大小大,复发被认为是生存不良的重要预后因素。在发病时诊断出的转移被确定为复发的唯一重要危险因素。结论:在我们的研究中,在出现时诊断出的转移、大的病变大小和复发被认为是生存的重要不良预后因素。转移也被确定为复发的唯一重要危险因素。nf1相关的mpnst表现出明显较大的肿瘤大小,术后额外治疗并没有显著提高生存率。本研究的局限性包括其回顾性性质和样本量。
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引用次数: 0
Evaluation of sagittal root position and labial alveolar bone concavity in the maxillary anterior tooth area for immediate implant placement. 上颌前牙区矢状根位置及唇槽骨凹度对即刻种植的评价。
IF 3 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-06-01 DOI: 10.1097/JCMA.0000000000000929
Muhammad Ikbal, Yen-Wen Shen, Muhammad Ruslin, Lih-Jyh Fuh, Jui-Ting Hsu

Background: The anatomical characteristics of the maxillary labial alveolar bone play a crucial role in the treatment planning of immediate implant placement. The sagittal root position (SRP) and alveolar bone concavity are closely related to anatomical characteristics in determining the ideal implant position. This study evaluated the SRP and labial alveolar bone concavity in the maxillary anterior teeth area.

Methods: Cone-beam computed tomography images of 120 samples involving 720 teeth were uploaded to the medical imaging software. The SRP was classified as Class I, II, III, or IV, and the concavity of labial alveolar bone was measured. A T test was performed to compare measurements between the central and lateral incisors, between the central incisors and canines, and between the lateral incisors and canine.

Results: The majority of the SRPs of the maxillary anterior teeth were class I (engaging the labial cortical plate) with frequencies of 98.3%, 85.8%, and 81.7% for the canines, lateral incisors, and central incisors, respectively. In terms of concavity of labial alveolar bone in maxillary tooth area, canines also had the largest mean value (139.5°), followed by lateral incisors, whereas central incisors has the smallest mean value (131.7°). The results of the T test revealed a significant difference ( p < 0.001) in labial alveolar bone concavity between central and lateral incisors, between central incisors and canines, and between lateral incisors and canines.

Conclusion: Most maxillary anterior teeth were classified as Class I SRP, Class III SRP was the least prevalent, and the concavity of the labial alveolar bone significantly differed between the central and lateral incisors, between the central incisors and canines, and between the lateral incisors and canines. In addition, the canines had the highest mean alveolar bone concavity angle, indicating that less concavity in the canines area.

背景:上颌唇牙槽骨的解剖特征对即刻种植的治疗计划起着至关重要的作用。矢状根位置(SRP)和牙槽骨凹度与确定理想种植位置的解剖学特征密切相关。本研究对上颌前牙区域的SRP和唇槽骨凹进行了评价。方法:将120例720颗牙齿的ct图像上传到医学成像软件中。SRP分为I级、II级、III级和IV级,并测量唇槽骨的凹度。采用T检验比较中切牙与侧切牙、中切牙与犬齿、侧切牙与犬齿之间的测量值。结果:上颌前牙的srp以ⅰ类(与唇皮质板结合)居多,犬齿、侧切牙和中切牙的频率分别为98.3%、85.8%和81.7%。上颌牙区唇槽骨凹度均值犬科最大(139.5°),其次为侧切牙,中切牙最小(131.7°)。T检验结果显示,中切牙与侧切牙、中切牙与犬齿、侧切牙与犬齿的唇槽骨凹度差异有统计学意义(p < 0.001)。结论:上颌前牙多为ⅰ类SRP,ⅲ类SRP发生率最低,中、侧切牙、中切牙与犬齿、侧切牙与犬齿的唇槽骨凹度差异显著。此外,犬齿的平均牙槽骨凹角最高,说明犬齿区域的凹度较小。
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引用次数: 1
Immunoprofile of adenosquamous carcinoma in gastric cancer. 胃癌中腺鳞癌的免疫谱分析。
IF 3 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-06-01 DOI: 10.1097/JCMA.0000000000000922
Cheng-Han Wu, Cheng-Lun Lai, Chieh-Lin Jerry Teng, Wen-Liang Fang, Kuo-Hung Huang, Anna Fen-Yau Li, Hung-Yuan Yu, Nai-Jung Chiang, Yee Chao, Yi-Ping Hung, Ming-Huang Chen

Background: Gastric adenosquamous carcinoma (GASC) is a rare subtype of gastric cancer. Research on GASC treatment is limited, and its outcome is usually poor. We investigated the clinical features, immunoprofile of GASC, and determined the optimal treatment modality for these patients.

Methods: Patients with GASC from Taipei Veterans General Hospital were retrospectively reviewed. Clinical features and treatment outcomes were evaluated. Adequate samples were examined for surrogate biomarkers for immunotherapy by IHC staining.

Results: Total 14 (0.35%) GASC patients were found among 4034 gastric cancer patients. The median tumor size was 6.8 cm in 10 patients with stage III GASC, and all these patients underwent radical gastrectomy followed by adjuvant therapy. The median progression-free survival (PFS) and overall survival (OS) were 6.0 and 11.5 months, respectively. Two patients with stage IV GASC received frontline immunotherapy. Their median PFS and OS were 9.0 and 12.5 months. In immunoprofiling, 25.0% (n = 3), 75.0% (n = 9), and 33.3% (n = 4) of the samples had deficient mismatch repair (dMMR) protein, combined positive score (CPS) of ≥1, and CPS of ≥10, respectively. The univariate analysis revealed that programmed death-ligand 1 ≥5% (HR: 0.12; 95% CI: 0.01-0.97; p = 0.047) was significant associated with superior OS. One stage IV patient with CPS ≥10 and dMMR proteins received nivolumab monotherapy as frontline treatment that resulted 14-month PFS.

Conclusion: Patients with GASC are more likely to yield positive results for CPS and dMMR. Biomarkers should be examined, and immunotherapy can be considered as frontline systemic treatment.

背景:胃腺鳞癌(GASC)是一种罕见的胃癌亚型。对GASC治疗的研究有限,效果通常较差。我们研究了GASC的临床特征、免疫谱,并确定了这些患者的最佳治疗方式。方法:对台北荣民总医院收治的GASC患者进行回顾性分析。评估临床特征和治疗效果。通过免疫组化染色检测足够的样本,寻找用于免疫治疗的替代生物标志物。结果:4034例胃癌患者中有14例(0.35%)出现GASC。10例III期GASC患者中位肿瘤大小为6.8 cm,均行根治性胃切除术后辅助治疗。中位无进展生存期(PFS)和总生存期(OS)分别为6.0和11.5个月。两名IV期GASC患者接受了一线免疫治疗。他们的中位PFS和OS分别为9.0和12.5个月。在免疫谱分析中,25.0% (n = 3)、75.0% (n = 9)和33.3% (n = 4)的样本存在错配修复(dMMR)蛋白缺陷,联合阳性评分(CPS)分别≥1和≥10。单因素分析显示,程序性死亡配体1≥5% (HR: 0.12;95% ci: 0.01-0.97;p = 0.047)与良好的OS显著相关。一名CPS≥10和dMMR蛋白的IV期患者接受纳沃单抗单药治疗作为一线治疗,导致14个月的PFS。结论:GASC患者更有可能在CPS和dMMR中获得阳性结果。应检查生物标志物,免疫治疗可考虑作为一线全身治疗。
{"title":"Immunoprofile of adenosquamous carcinoma in gastric cancer.","authors":"Cheng-Han Wu,&nbsp;Cheng-Lun Lai,&nbsp;Chieh-Lin Jerry Teng,&nbsp;Wen-Liang Fang,&nbsp;Kuo-Hung Huang,&nbsp;Anna Fen-Yau Li,&nbsp;Hung-Yuan Yu,&nbsp;Nai-Jung Chiang,&nbsp;Yee Chao,&nbsp;Yi-Ping Hung,&nbsp;Ming-Huang Chen","doi":"10.1097/JCMA.0000000000000922","DOIUrl":"https://doi.org/10.1097/JCMA.0000000000000922","url":null,"abstract":"<p><strong>Background: </strong>Gastric adenosquamous carcinoma (GASC) is a rare subtype of gastric cancer. Research on GASC treatment is limited, and its outcome is usually poor. We investigated the clinical features, immunoprofile of GASC, and determined the optimal treatment modality for these patients.</p><p><strong>Methods: </strong>Patients with GASC from Taipei Veterans General Hospital were retrospectively reviewed. Clinical features and treatment outcomes were evaluated. Adequate samples were examined for surrogate biomarkers for immunotherapy by IHC staining.</p><p><strong>Results: </strong>Total 14 (0.35%) GASC patients were found among 4034 gastric cancer patients. The median tumor size was 6.8 cm in 10 patients with stage III GASC, and all these patients underwent radical gastrectomy followed by adjuvant therapy. The median progression-free survival (PFS) and overall survival (OS) were 6.0 and 11.5 months, respectively. Two patients with stage IV GASC received frontline immunotherapy. Their median PFS and OS were 9.0 and 12.5 months. In immunoprofiling, 25.0% (n = 3), 75.0% (n = 9), and 33.3% (n = 4) of the samples had deficient mismatch repair (dMMR) protein, combined positive score (CPS) of ≥1, and CPS of ≥10, respectively. The univariate analysis revealed that programmed death-ligand 1 ≥5% (HR: 0.12; 95% CI: 0.01-0.97; p = 0.047) was significant associated with superior OS. One stage IV patient with CPS ≥10 and dMMR proteins received nivolumab monotherapy as frontline treatment that resulted 14-month PFS.</p><p><strong>Conclusion: </strong>Patients with GASC are more likely to yield positive results for CPS and dMMR. Biomarkers should be examined, and immunotherapy can be considered as frontline systemic treatment.</p>","PeriodicalId":17251,"journal":{"name":"Journal of the Chinese Medical Association","volume":"86 6","pages":"542-548"},"PeriodicalIF":3.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10183749","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Effect of low-frequency repetitive transcranial magnetic stimulation as adjunctive treatment for insomnia patients under hypnotics: A randomized, double-blind, sham-controlled study. 低频重复经颅磁刺激作为催眠下失眠患者辅助治疗的效果:一项随机、双盲、假对照研究。
IF 3 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-06-01 DOI: 10.1097/JCMA.0000000000000924
Wei-Chen Lin, Mu-Hong Chen, Ying-Jay Liou, Pei-Chi Tu, Wen-Han Chang, Ya-Mei Bai, Cheng-Ta Li, Shih-Jen Tsai, Chen-Jee Hong, Tung-Ping Su

Background: Pharmacotherapy of insomnia is prescribed often but may be complicated by drug dependence. Cognitive-behavioral therapy for insomnia is effective, but requires time to take effect. Repetitive transcranial magnetic stimulation (rTMS) is effective for depression but of uncertain benefit for insomnia. We studied low-frequency rTMS of the left dorsal medial prefrontal cortex (DMPFC) as an adjunctive therapy of insomnia.

Methods: We recruited 60 patients with insomnia, of whom 49 completed the study. We applied 1 Hz rTMS to the DMPFC in the experimental group (n = 36) and sham coil for the placebo group (n = 13). Outcome measures included objective polysomnography (PSG) and subjective Pittsburgh Sleep Quality Index (PSQI). All participants were requested to continue prescribed pharmacotherapy.

Results: After 10 sessions of low-frequency DMPFC-rTMS, the experimental group demonstrated a reduction of duration of wake after sleep onset (WASO) from 75.4 (±53.3) to 51.2 (±75.1) min ( p = 0.011). Sleep efficiency (SE) increased from 74.6% (±15.6) to 80.8% (±13.8) ( p = 0.004). The sham group experienced improved SE from 79.4% (±30.7) to 88.9% (±5.6) ( p = 0.039). After controlling for baseline PSG parameters and hypnotic dosage, the sham group exhibited better effects of sleep onset latency and SE than the rTMS group but no difference on PSQI.

Conclusion: Although the effects of rTMS and sham coil on insomnia were similar (which implied significant placebo effect), low-frequency DMPFC-rTMS might offer a safe, non-invasive, and useful adjunctive therapy of insomnia by reducing WASO. The DMPFC may represent a new target for future rTMS insomnia studies.

背景:失眠的药物治疗经常被开处方,但可能因药物依赖而复杂化。认知行为疗法治疗失眠是有效的,但需要时间才能见效。重复经颅磁刺激(rTMS)对抑郁症有效,但对失眠的疗效不确定。我们研究了左背内侧前额叶皮层(DMPFC)低频rTMS作为失眠的辅助治疗。方法:我们招募了60例失眠患者,其中49例完成了研究。我们在实验组(n = 36)和安慰剂组(n = 13)分别对DMPFC应用1 Hz rTMS和假线圈。结果测量包括客观多导睡眠图(PSG)和主观匹兹堡睡眠质量指数(PSQI)。所有参与者都被要求继续进行处方药物治疗。结果:经过10次低频DMPFC-rTMS后,实验组的醒后持续时间(WASO)从75.4(±53.3)分钟减少到51.2(±75.1)分钟(p = 0.011)。睡眠效率(SE)由74.6%(±15.6)提高至80.8%(±13.8)(p = 0.004)。假手术组的SE由79.4%(±30.7)提高到88.9%(±5.6)(p = 0.039)。在控制PSG基线参数和催眠剂量后,假药组在睡眠发作潜伏期和SE方面的效果优于rTMS组,但在PSQI方面无差异。结论:虽然rTMS和假线圈治疗失眠的效果相似(这意味着安慰剂效应显著),但低频DMPFC-rTMS可能通过降低WASO提供一种安全、无创、有用的失眠辅助治疗。DMPFC可能是未来rTMS失眠研究的新目标。
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引用次数: 0
Reply to "Is the relation between three comorbidities and carotid atherosclerosis dependent on the sum or not?" 回复“三种合并症与颈动脉粥样硬化的关系是否依赖于总和?”
IF 3 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-06-01 DOI: 10.1097/JCMA.0000000000000897
Tzu-Wei Wu, Chao-Liang Chou, Shu-Xin Lu, Chun-Fang Cheng, Li-Yu Wang
{"title":"Reply to \"Is the relation between three comorbidities and carotid atherosclerosis dependent on the sum or not?\"","authors":"Tzu-Wei Wu,&nbsp;Chao-Liang Chou,&nbsp;Shu-Xin Lu,&nbsp;Chun-Fang Cheng,&nbsp;Li-Yu Wang","doi":"10.1097/JCMA.0000000000000897","DOIUrl":"https://doi.org/10.1097/JCMA.0000000000000897","url":null,"abstract":"","PeriodicalId":17251,"journal":{"name":"Journal of the Chinese Medical Association","volume":"86 6","pages":"615-616"},"PeriodicalIF":3.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9880370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The pathological mechanisms and novel therapeutics for Leber's hereditary optic neuropathy. Leber遗传性视神经病变的病理机制及新疗法。
IF 3 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-06-01 DOI: 10.1097/JCMA.0000000000000927
Yi-Ping Yang, Shania Foustine, Yu-Jer Hsiao, En-Tung Tsai, Fu-Ting Tsai, Chia-Lin Wang, Yu-Ling Ko, Hsiao-Yun Tai, Yi-Ching Tsai, Chang-Hao Yang, Yun-Ju Fu, An-Guor Wang, Yueh Chien

Optic neuropathies were estimated to affect 115 in 100,000 population in 2018. Leber's Hereditary Optic Neuropathy (LHON) as one of such optic neuropathy diseases that was first identified in 1871 and can be defined as a hereditary mitochondrial disease. LHON is associated with three mtDNA point mutations which are G11778A, T14484, and G3460A that affect the NADH dehydrogenase subunits of 4, 6, and 1, respectively. However, in most cases, only one point mutation is involved. Generally, in manifestation of the disease, there are no symptoms until the terminal dysfunction in the optic nerve is observed. Due to the mutations, nicotinamide adenine dinucleotide (NADH) dehydrogenase or complex I is absent and thus ATP production is stopped. This further causes the generation of reactive oxygen species and retina ganglion cells apoptosis. Aside from the mutations, there are several environmental factors such as smoking and alcohol consumption that can be pointed out as the risk factors of LHON. Nowadays, gene therapy has been intensively studied for LHON treatment. Disease models using human induced pluripotent stem cells (hiPSCs) have been utilized for LHON research.

据估计,2018年每10万人中就有115人患有视神经病变。Leber's遗传性视神经病变(LHON)是1871年首次发现的视神经病变之一,可定义为遗传性线粒体疾病。LHON与三个mtDNA点突变G11778A、T14484和G3460A相关,分别影响NADH脱氢酶亚基4、6和1。然而,在大多数情况下,只涉及一个点突变。一般在疾病的表现上,直到观察到视神经终末功能障碍时才出现症状。由于突变,烟酰胺腺嘌呤二核苷酸(NADH)脱氢酶或复合物I缺失,因此ATP的产生停止。这进一步导致活性氧的产生和视网膜神经节细胞的凋亡。除了基因突变外,吸烟和饮酒等环境因素也可被认为是LHON的危险因素。目前,基因治疗在LHON的治疗中得到了广泛的研究。利用人诱导多能干细胞(hiPSCs)建立疾病模型已被用于LHON研究。
{"title":"The pathological mechanisms and novel therapeutics for Leber's hereditary optic neuropathy.","authors":"Yi-Ping Yang,&nbsp;Shania Foustine,&nbsp;Yu-Jer Hsiao,&nbsp;En-Tung Tsai,&nbsp;Fu-Ting Tsai,&nbsp;Chia-Lin Wang,&nbsp;Yu-Ling Ko,&nbsp;Hsiao-Yun Tai,&nbsp;Yi-Ching Tsai,&nbsp;Chang-Hao Yang,&nbsp;Yun-Ju Fu,&nbsp;An-Guor Wang,&nbsp;Yueh Chien","doi":"10.1097/JCMA.0000000000000927","DOIUrl":"https://doi.org/10.1097/JCMA.0000000000000927","url":null,"abstract":"<p><p>Optic neuropathies were estimated to affect 115 in 100,000 population in 2018. Leber's Hereditary Optic Neuropathy (LHON) as one of such optic neuropathy diseases that was first identified in 1871 and can be defined as a hereditary mitochondrial disease. LHON is associated with three mtDNA point mutations which are G11778A, T14484, and G3460A that affect the NADH dehydrogenase subunits of 4, 6, and 1, respectively. However, in most cases, only one point mutation is involved. Generally, in manifestation of the disease, there are no symptoms until the terminal dysfunction in the optic nerve is observed. Due to the mutations, nicotinamide adenine dinucleotide (NADH) dehydrogenase or complex I is absent and thus ATP production is stopped. This further causes the generation of reactive oxygen species and retina ganglion cells apoptosis. Aside from the mutations, there are several environmental factors such as smoking and alcohol consumption that can be pointed out as the risk factors of LHON. Nowadays, gene therapy has been intensively studied for LHON treatment. Disease models using human induced pluripotent stem cells (hiPSCs) have been utilized for LHON research.</p>","PeriodicalId":17251,"journal":{"name":"Journal of the Chinese Medical Association","volume":"86 6","pages":"539-541"},"PeriodicalIF":3.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9880421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correlation of Q223R and K109R polymorphisms in leptin receptor gene with susceptibility of breast cancer: A systematic review and meta-analysis. 瘦素受体基因Q223R和K109R多态性与乳腺癌易感性的相关性:系统综述和荟萃分析
IF 3 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-06-01 DOI: 10.1097/JCMA.0000000000000918
Shaoliang Zhu, Zhenyong Tang, Yi Tang, Tingting Tan, Bin Chen, Dongyi Xie, Shaowei Xie, Honglin Luo, Wenyu Jiang, Yuntian Tang, Jianrong Yang

Background: Increasing evidence has suggested a strong association of Q223R (rs1137101) and K109R (rs1137100) polymorphisms in leptin receptor (LEPR) gene with susceptibility of breast cancer (BC), but inconsistent results were obtained. To provide a quantitative assessment of this association, a systematic review and meta-analysis was performed.

Methods: A literature search of PubMed, EMBASE, Google Scholar, and the Chinese National Knowledge Infrastructure was collected. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated.

Results: A total of 20 case-control studies for Q223R polymorphism and 8 case-control studies for K109R polymorphism were included. Significant association between Q223R polymorphism and BC risk was not found in total, Asian or Caucasian population, but in African population: allelic model, OR = 0.72, 95% CI = 0.60-0.86, p < 0.001; recessive model, OR = 0.67, 95%CI = 0.52-0.87, P = 0.003; dominant model, OR = 1.58, 95% CI = 1.15-2.17, p = 0.004; homozygous model, OR = 0.51, 95% CI = 0.36-0.78, p < 0.001. Significant association between K109R polymorphism and BC risk was not found in total or Caucasian population, but in Asian population: dominant model, OR = 0.24, 95% CI = 0.07-0.84, p = 0.03; heterozygous model, OR = 1.87, 95% CI = 1.07-3.26, p = 0.03.

Conclusion: The available evidence suggests that Q223R polymorphism may be significantly associated with BC risk in African population. K109R polymorphism may be significantly associated with BC risk in Asian population.

背景:越来越多的证据表明,瘦素受体(LEPR)基因Q223R (rs1137101)和K109R (rs1137100)多态性与乳腺癌(BC)易感性密切相关,但得到的结果不一致。为了对这种关联进行定量评估,进行了系统回顾和荟萃分析。方法:检索PubMed、EMBASE、Google Scholar、Chinese National Knowledge Infrastructure的相关文献。计算比值比(ORs)和95%置信区间(95% ci)。结果:共纳入20项Q223R多态性病例对照研究和8项K109R多态性病例对照研究。Q223R多态性与BC风险的显著相关性未在总体人群、亚洲人群和高加索人群中发现,但在非洲人群中发现:等位基因模型,or = 0.72, 95% CI = 0.60-0.86, p < 0.001;隐性模型,OR = 0.67, 95%CI = 0.52 ~ 0.87, P = 0.003;优势模型,OR = 1.58, 95% CI = 1.15-2.17, p = 0.004;纯合子模型,OR = 0.51, 95% CI = 0.36 ~ 0.78, p < 0.001。K109R多态性与BC风险的显著相关性未在总体人群或高加索人群中发现,但在亚洲人群中发现:显性模型,or = 0.24, 95% CI = 0.07-0.84, p = 0.03;杂合模型,OR = 1.87, 95% CI = 1.07-3.26, p = 0.03。结论:现有证据表明,Q223R多态性可能与非洲人群的BC风险显著相关。K109R多态性可能与亚洲人群的BC风险显著相关。
{"title":"Correlation of Q223R and K109R polymorphisms in leptin receptor gene with susceptibility of breast cancer: A systematic review and meta-analysis.","authors":"Shaoliang Zhu,&nbsp;Zhenyong Tang,&nbsp;Yi Tang,&nbsp;Tingting Tan,&nbsp;Bin Chen,&nbsp;Dongyi Xie,&nbsp;Shaowei Xie,&nbsp;Honglin Luo,&nbsp;Wenyu Jiang,&nbsp;Yuntian Tang,&nbsp;Jianrong Yang","doi":"10.1097/JCMA.0000000000000918","DOIUrl":"https://doi.org/10.1097/JCMA.0000000000000918","url":null,"abstract":"<p><strong>Background: </strong>Increasing evidence has suggested a strong association of Q223R (rs1137101) and K109R (rs1137100) polymorphisms in leptin receptor (LEPR) gene with susceptibility of breast cancer (BC), but inconsistent results were obtained. To provide a quantitative assessment of this association, a systematic review and meta-analysis was performed.</p><p><strong>Methods: </strong>A literature search of PubMed, EMBASE, Google Scholar, and the Chinese National Knowledge Infrastructure was collected. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated.</p><p><strong>Results: </strong>A total of 20 case-control studies for Q223R polymorphism and 8 case-control studies for K109R polymorphism were included. Significant association between Q223R polymorphism and BC risk was not found in total, Asian or Caucasian population, but in African population: allelic model, OR = 0.72, 95% CI = 0.60-0.86, p < 0.001; recessive model, OR = 0.67, 95%CI = 0.52-0.87, P = 0.003; dominant model, OR = 1.58, 95% CI = 1.15-2.17, p = 0.004; homozygous model, OR = 0.51, 95% CI = 0.36-0.78, p < 0.001. Significant association between K109R polymorphism and BC risk was not found in total or Caucasian population, but in Asian population: dominant model, OR = 0.24, 95% CI = 0.07-0.84, p = 0.03; heterozygous model, OR = 1.87, 95% CI = 1.07-3.26, p = 0.03.</p><p><strong>Conclusion: </strong>The available evidence suggests that Q223R polymorphism may be significantly associated with BC risk in African population. K109R polymorphism may be significantly associated with BC risk in Asian population.</p>","PeriodicalId":17251,"journal":{"name":"Journal of the Chinese Medical Association","volume":"86 6","pages":"549-556"},"PeriodicalIF":3.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10238913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Journal of the Chinese Medical Association
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