Pub Date : 2025-09-04eCollection Date: 2025-01-01DOI: 10.1080/08998280.2025.2555155
Branden Brelsford, John C Cravero, Collin Telchik, Richard A Phenis
Background: West Nile virus is a single-stranded RNA arbovirus with variable clinical presentation.
Methods: To better understand the clinical characteristics, diagnostic evaluation, and outcomes, we performed a retrospective analysis of the Baylor Scott & White Health medical records for hospitalized adult patients with West Nile virus from January 1, 2015, to September 1, 2024.
Results: A total of 79 patients were included. Most were male (55.7%) with a mean age of 64.15 years. The highest concentration of cases was reported in Dallas County (34.2%) and Tarrant County (22.8%). Seventy-three patients (92.4%) had neuroinvasive disease, while 6 patients (7.8%) had nonneuroinvasive disease. Presenting symptoms included fever (73.43%), confusion (49.59%), and weakness (40.51%). Six patients (7.6%) were found to have acute ischemic stroke during their admission. Fifteen patients (18.99%) died. Cerebrospinal fluid analysis generally showed elevated protein (mean value 104.7 mg/dL) with either neutrophilic (mean 32%) or lymphocytic pleocytosis (mean 51.6%). None of the treatments analyzed (intravenous immunoglobulin, plasma exchange, and steroids) was found to have any significant effect on morbidity and mortality.
Conclusion: West Nile virus is a common recurring disease across Texas. While some cases progress to neuroinvasive disease, there appears to be no meaningful way to predict these cases based on clinical and demographic data.
背景:西尼罗病毒是一种临床表现多变的单链RNA虫媒病毒。方法:为了更好地了解西尼罗病毒的临床特征、诊断评价和结局,我们回顾性分析了2015年1月1日至2024年9月1日期间Baylor Scott & White Health医院收治的西尼罗病毒住院成人患者的医疗记录。结果:共纳入79例患者。男性居多(55.7%),平均年龄64.15岁。病例集中度最高的是达拉斯县(34.2%)和塔兰特县(22.8%)。73例(92.4%)有神经侵犯性疾病,6例(7.8%)无神经侵犯性疾病。主要表现为发热(73.43%)、精神错乱(49.59%)和虚弱(40.51%)。6例(7.6%)患者入院时发生急性缺血性脑卒中。死亡15例(18.99%)。脑脊液分析一般显示蛋白升高(平均值104.7 mg/dL),中性粒细胞增多(平均32%)或淋巴细胞增多(平均51.6%)。所分析的治疗方法(静脉注射免疫球蛋白、血浆置换和类固醇)均未发现对发病率和死亡率有任何显著影响。结论:西尼罗病毒是德克萨斯州常见的复发性疾病。虽然有些病例进展为神经侵袭性疾病,但似乎没有基于临床和人口统计数据的有意义的方法来预测这些病例。
{"title":"Variations in West Nile viral infections across North and Central Texas.","authors":"Branden Brelsford, John C Cravero, Collin Telchik, Richard A Phenis","doi":"10.1080/08998280.2025.2555155","DOIUrl":"10.1080/08998280.2025.2555155","url":null,"abstract":"<p><strong>Background: </strong>West Nile virus is a single-stranded RNA arbovirus with variable clinical presentation.</p><p><strong>Methods: </strong>To better understand the clinical characteristics, diagnostic evaluation, and outcomes, we performed a retrospective analysis of the Baylor Scott & White Health medical records for hospitalized adult patients with West Nile virus from January 1, 2015, to September 1, 2024.</p><p><strong>Results: </strong>A total of 79 patients were included. Most were male (55.7%) with a mean age of 64.15 years. The highest concentration of cases was reported in Dallas County (34.2%) and Tarrant County (22.8%). Seventy-three patients (92.4%) had neuroinvasive disease, while 6 patients (7.8%) had nonneuroinvasive disease. Presenting symptoms included fever (73.43%), confusion (49.59%), and weakness (40.51%). Six patients (7.6%) were found to have acute ischemic stroke during their admission. Fifteen patients (18.99%) died. Cerebrospinal fluid analysis generally showed elevated protein (mean value 104.7 mg/dL) with either neutrophilic (mean 32%) or lymphocytic pleocytosis (mean 51.6%). None of the treatments analyzed (intravenous immunoglobulin, plasma exchange, and steroids) was found to have any significant effect on morbidity and mortality.</p><p><strong>Conclusion: </strong>West Nile virus is a common recurring disease across Texas. While some cases progress to neuroinvasive disease, there appears to be no meaningful way to predict these cases based on clinical and demographic data.</p>","PeriodicalId":8828,"journal":{"name":"Baylor University Medical Center Proceedings","volume":"38 6","pages":"843-850"},"PeriodicalIF":0.0,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12591580/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145480828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-09-03eCollection Date: 2025-01-01DOI: 10.1080/08998280.2025.2554467
Abdullah Albukhari, Yazeed AlHarbi, Meshal Alqahtani, Ahmed W Hageen, Ahmed A Ibrahim, Ftoon Alhomidani, Tmadher G Alshammari, Taif Albalawi, Sarah Mansour D Alshehri, Mazen Alayidh, Esameldin Shadoul
Background: Venous thromboembolism (VTE) poses a significant clinical burden, ranking as the third primary contributor to cardiovascular-related mortality. While extended anticoagulation reduces recurrence, it raises bleeding risks. Reduced-dose direct oral anticoagulants (DOACs) may offer an optimal balance by preventing VTE recurrence while minimizing hemorrhage. This meta-analysis evaluated the efficacy and safety of reduced-dose DOACs for secondary VTE prevention.
Methods: We established a thorough systematic review and meta-analysis of randomized controlled trials from PubMed, Web of Science, Scopus, and Cochrane searches through March 20, 2025. Dichotomous data were pooled utilizing risk ratio (RR), and continuous data were pooled using mean difference (MD), both with a 95% confidence interval (CI), implemented with R version 4.3.
Results: Our analysis included three randomized controlled trials encompassing 8615 patients. Reduced-dose anticoagulation was associated with a statistically significant decrease in the incidence of major bleeding (RR: 0.49 [95% CI: 0.29-0.81]; P < 0.01), clinically relevant nonmajor bleeding (RR: 0.72 [95% CI: 0.58-0.89]; P < 0.01), and all-cause mortality (RR: 0.66 [95% CI: 0.46- 0.97]; P = 0.03). However, there were no significant differences between the two groups in the incidence of recurrent VTE (RR: 0.98 [95% CI: 0.66-1.48]; P = 0.94), recurrence of nonfatal pulmonary embolism (RR: 1.09 [95% CI: 0.59-2.03]; P = 0.78), fatal pulmonary embolism recurrence (RR: 0.66 [95% CI: 0.19-2.34]; P = 0.52), and deep vein thrombosis recurrence (RR: 1.14 [95% CI: 0.62-2.09]; P = 0.68). Similarly, there were no significant differences in the incidence of any adverse events (RR: 1.01 [95% CI: 0.98- 1.05]; P = 0.51) and serious adverse events (RR: 0.92 [95% CI: 0.83-1.02]; P = 0.11).
Conclusion: This meta-analysis demonstrated that reduced-dose DOACs offer an effective approach for extended VTE prophylaxis, significantly reducing major bleeding risks without compromising protection against recurrent thrombosis. Notably, the data indicate a potential mortality benefit, solidifying their role in long-term management. These findings advocate for individualized therapy tailored to patient risk profiles, prioritizing an optimal efficacy-safety balance. Further large-scale randomized controlled trials are needed to validate long-term outcomes, refine dosing strategies, and define patient subgroups that derive the maximal benefit.
背景:静脉血栓栓塞(VTE)是一个重要的临床负担,是心血管相关死亡的第三大主要原因。虽然延长抗凝时间可以减少复发,但会增加出血风险。减少剂量直接口服抗凝剂(DOACs)可以提供最佳的平衡,防止静脉血栓栓塞复发,同时减少出血。本荟萃分析评估了低剂量doac预防继发性静脉血栓栓塞的有效性和安全性。方法:我们对PubMed、Web of Science、Scopus和Cochrane搜索到2025年3月20日的随机对照试验进行了全面的系统评价和荟萃分析。二分类数据采用风险比(RR)合并,连续数据采用均值差(MD)合并,均采用R版本4.3,95%置信区间(CI)。结果:我们的分析包括三个随机对照试验,共8615例患者。减少剂量抗凝与大出血发生率降低有统计学意义(RR: 0.49 [95% CI: 0.29-0.81]; P P P = 0.03)。但两组在静脉血栓栓塞复发发生率(RR: 0.98 [95% CI: 0.66-1.48]; P = 0.94)、非致死性肺栓塞复发率(RR: 1.09 [95% CI: 0.59-2.03]; P = 0.78)、致死性肺栓塞复发率(RR: 0.66 [95% CI: 0.19-2.34]; P = 0.52)、深静脉血栓形成复发率(RR: 1.14 [95% CI: 0.62-2.09]; P = 0.68)方面差异无统计学意义。同样,两组不良事件发生率(RR: 1.01 [95% CI: 0.98 ~ 1.05]; P = 0.51)和严重不良事件发生率(RR: 0.92 [95% CI: 0.83 ~ 1.02]; P = 0.11)也无显著差异。结论:该荟萃分析表明,减少剂量的DOACs为延长静脉血栓栓塞预防提供了一种有效的方法,显著降低了大出血风险,同时又不影响对血栓复发的保护。值得注意的是,数据显示了潜在的死亡率优势,巩固了它们在长期管理中的作用。这些发现提倡针对患者风险概况进行个性化治疗,优先考虑最佳的疗效和安全性平衡。需要进一步的大规模随机对照试验来验证长期结果,完善给药策略,并确定获得最大获益的患者亚组。
{"title":"Reduced-dose versus full-dose direct oral anticoagulants in extended treatment of venous thromboembolism: a systematic review and meta-analysis of randomized controlled trials.","authors":"Abdullah Albukhari, Yazeed AlHarbi, Meshal Alqahtani, Ahmed W Hageen, Ahmed A Ibrahim, Ftoon Alhomidani, Tmadher G Alshammari, Taif Albalawi, Sarah Mansour D Alshehri, Mazen Alayidh, Esameldin Shadoul","doi":"10.1080/08998280.2025.2554467","DOIUrl":"10.1080/08998280.2025.2554467","url":null,"abstract":"<p><strong>Background: </strong>Venous thromboembolism (VTE) poses a significant clinical burden, ranking as the third primary contributor to cardiovascular-related mortality. While extended anticoagulation reduces recurrence, it raises bleeding risks. Reduced-dose direct oral anticoagulants (DOACs) may offer an optimal balance by preventing VTE recurrence while minimizing hemorrhage. This meta-analysis evaluated the efficacy and safety of reduced-dose DOACs for secondary VTE prevention.</p><p><strong>Methods: </strong>We established a thorough systematic review and meta-analysis of randomized controlled trials from PubMed, Web of Science, Scopus, and Cochrane searches through March 20, 2025. Dichotomous data were pooled utilizing risk ratio (RR), and continuous data were pooled using mean difference (MD), both with a 95% confidence interval (CI), implemented with R version 4.3.</p><p><strong>Results: </strong>Our analysis included three randomized controlled trials encompassing 8615 patients. Reduced-dose anticoagulation was associated with a statistically significant decrease in the incidence of major bleeding (RR: 0.49 [95% CI: 0.29-0.81]; <i>P</i> < 0.01), clinically relevant nonmajor bleeding (RR: 0.72 [95% CI: 0.58-0.89]; <i>P</i> < 0.01), and all-cause mortality (RR: 0.66 [95% CI: 0.46- 0.97]; <i>P</i> = 0.03). However, there were no significant differences between the two groups in the incidence of recurrent VTE (RR: 0.98 [95% CI: 0.66-1.48]; <i>P</i> = 0.94), recurrence of nonfatal pulmonary embolism (RR: 1.09 [95% CI: 0.59-2.03]; <i>P</i> = 0.78), fatal pulmonary embolism recurrence (RR: 0.66 [95% CI: 0.19-2.34]; <i>P</i> = 0.52), and deep vein thrombosis recurrence (RR: 1.14 [95% CI: 0.62-2.09]; <i>P</i> = 0.68). Similarly, there were no significant differences in the incidence of any adverse events (RR: 1.01 [95% CI: 0.98- 1.05]; <i>P</i> = 0.51) and serious adverse events (RR: 0.92 [95% CI: 0.83-1.02]; <i>P</i> = 0.11).</p><p><strong>Conclusion: </strong>This meta-analysis demonstrated that reduced-dose DOACs offer an effective approach for extended VTE prophylaxis, significantly reducing major bleeding risks without compromising protection against recurrent thrombosis. Notably, the data indicate a potential mortality benefit, solidifying their role in long-term management. These findings advocate for individualized therapy tailored to patient risk profiles, prioritizing an optimal efficacy-safety balance. Further large-scale randomized controlled trials are needed to validate long-term outcomes, refine dosing strategies, and define patient subgroups that derive the maximal benefit.</p>","PeriodicalId":8828,"journal":{"name":"Baylor University Medical Center Proceedings","volume":"38 6","pages":"907-918"},"PeriodicalIF":0.0,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12591589/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145480741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Heterotaxy syndrome, or situs ambiguus, is a rare congenital condition characterized by abnormal left-right positioning of thoracoabdominal organs. It often includes splenic anomalies such as polysplenia and vascular malformations like interruption of the inferior vena cava (IVC) with azygos continuation. These anatomical variants can impair venous return, increasing the risk of venous thromboembolism, particularly in young patients. We present the case of an 18-year-old woman with obesity and long-term estrogen-containing oral contraceptive use who presented with acute bilateral pulmonary emboli. Initial imaging noted polysplenia, but the diagnosis of heterotaxy syndrome with IVC interruption and azygos continuation was not made until 5 months later during evaluation for recurrent chest pain. Hypercoagulable workup was negative, and anticoagulation was continued due to ongoing thrombotic risk. This case highlights heterotaxy syndrome as an underrecognized contributor to venous thromboembolism in young individuals and underscores the importance of considering anatomical risk factors in cases of unprovoked thromboembolism.
{"title":"Heterotaxy syndrome: a rare risk factor for a pulmonary embolism in a young person.","authors":"Lindsay Mathys, Blake Oliaro, Srujan Kancharla, Vishnu Dubakula, Meaghan Dubin","doi":"10.1080/08998280.2025.2552095","DOIUrl":"10.1080/08998280.2025.2552095","url":null,"abstract":"<p><p>Heterotaxy syndrome, or situs ambiguus, is a rare congenital condition characterized by abnormal left-right positioning of thoracoabdominal organs. It often includes splenic anomalies such as polysplenia and vascular malformations like interruption of the inferior vena cava (IVC) with azygos continuation. These anatomical variants can impair venous return, increasing the risk of venous thromboembolism, particularly in young patients. We present the case of an 18-year-old woman with obesity and long-term estrogen-containing oral contraceptive use who presented with acute bilateral pulmonary emboli. Initial imaging noted polysplenia, but the diagnosis of heterotaxy syndrome with IVC interruption and azygos continuation was not made until 5 months later during evaluation for recurrent chest pain. Hypercoagulable workup was negative, and anticoagulation was continued due to ongoing thrombotic risk. This case highlights heterotaxy syndrome as an underrecognized contributor to venous thromboembolism in young individuals and underscores the importance of considering anatomical risk factors in cases of unprovoked thromboembolism.</p>","PeriodicalId":8828,"journal":{"name":"Baylor University Medical Center Proceedings","volume":"39 1","pages":"155-158"},"PeriodicalIF":0.0,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12758358/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145899311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-09-02eCollection Date: 2025-01-01DOI: 10.1080/08998280.2025.2552556
Alejandro C Arroliga
{"title":"Leadership under duress: the COVID-19 pandemic.","authors":"Alejandro C Arroliga","doi":"10.1080/08998280.2025.2552556","DOIUrl":"10.1080/08998280.2025.2552556","url":null,"abstract":"","PeriodicalId":8828,"journal":{"name":"Baylor University Medical Center Proceedings","volume":"38 6","pages":"987-990"},"PeriodicalIF":0.0,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12591586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145480771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-09-02eCollection Date: 2025-01-01DOI: 10.1080/08998280.2025.2552613
Humza Saeed, Syeda Shahnoor, Muhammad Khubaib Arshad, Priya Goyal, Abdullah, Abdul Wasay, Kamya Thakkar, Muhammad Musaddique Khan, Fatima Ali Raza, Muhammad Taha Khan, Ajeet Singh, Hiba Narvel
Background: Asthma and cardiovascular disease (CVD) are major health burdens with potential interconnections. This study analyzed mortality trends and demographic and regional disparities in US adults with coexisting asthma and CVD from 1999 to 2020.
Methods: Using CDC WONDER data, we examined death certificates for individuals aged ≥25 years who died from 1999 to 2020 with both CVD (ICD I00-I99) and asthma (ICD J45-46). Age-adjusted mortality rates (AAMRs) and annual percent change (APC) were calculated by year, sex, age, race/ethnicity, region, and urbanization.
Results: There were 145,404 deaths involving both asthma and CVD. AAMR rose from 3.5 to 4.6 per 100,000, with a sharp increase from 2018 to 2020 (APC: 28.5; 95% CI: 17.34-35.05). Older adults had the highest AAMR (10.2). Women had higher rates than men (3.5 vs 2.4). Non-Hispanic (NH) Blacks had the highest AAMR (6.1), followed by NH American Indian/Alaska Natives (3.8), NH Asian/Pacific Islanders (3.5), Hispanics (3.0), and NH Whites (2.7). The Western region had the highest AAMR (3.7). Rates were similar across urban and rural areas.
Conclusions: Mortality from coexisting asthma and CVD increased, especially among older adults, women, and NH Black individuals. Targeted public health strategies are needed to address these disparities.
{"title":"Demographic and regional analysis of 22 years of mortality data from coexisting asthma and cardiovascular disease in the United States.","authors":"Humza Saeed, Syeda Shahnoor, Muhammad Khubaib Arshad, Priya Goyal, Abdullah, Abdul Wasay, Kamya Thakkar, Muhammad Musaddique Khan, Fatima Ali Raza, Muhammad Taha Khan, Ajeet Singh, Hiba Narvel","doi":"10.1080/08998280.2025.2552613","DOIUrl":"10.1080/08998280.2025.2552613","url":null,"abstract":"<p><strong>Background: </strong>Asthma and cardiovascular disease (CVD) are major health burdens with potential interconnections. This study analyzed mortality trends and demographic and regional disparities in US adults with coexisting asthma and CVD from 1999 to 2020.</p><p><strong>Methods: </strong>Using CDC WONDER data, we examined death certificates for individuals aged ≥25 years who died from 1999 to 2020 with both CVD (ICD I00-I99) and asthma (ICD J45-46). Age-adjusted mortality rates (AAMRs) and annual percent change (APC) were calculated by year, sex, age, race/ethnicity, region, and urbanization.</p><p><strong>Results: </strong>There were 145,404 deaths involving both asthma and CVD. AAMR rose from 3.5 to 4.6 per 100,000, with a sharp increase from 2018 to 2020 (APC: 28.5; 95% CI: 17.34-35.05). Older adults had the highest AAMR (10.2). Women had higher rates than men (3.5 vs 2.4). Non-Hispanic (NH) Blacks had the highest AAMR (6.1), followed by NH American Indian/Alaska Natives (3.8), NH Asian/Pacific Islanders (3.5), Hispanics (3.0), and NH Whites (2.7). The Western region had the highest AAMR (3.7). Rates were similar across urban and rural areas.</p><p><strong>Conclusions: </strong>Mortality from coexisting asthma and CVD increased, especially among older adults, women, and NH Black individuals. Targeted public health strategies are needed to address these disparities.</p>","PeriodicalId":8828,"journal":{"name":"Baylor University Medical Center Proceedings","volume":"38 6","pages":"806-814"},"PeriodicalIF":0.0,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12671514/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145666808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-09-02eCollection Date: 2025-01-01DOI: 10.1080/08998280.2025.2551467
Yacob Saleh, Somaya Al Kiswani, Ahmad Muhtaseb, Dhuha Al-Adhami, Majd Khader, Omar Jaber, Abdullah Nofal, Akram Al-Ibraheem
Carney-Stratakis syndrome (CSS) is a rare hereditary disorder involving gastrointestinal stromal tumors (GISTs) and paraganglioma/pheochromocytoma, typically linked to mutations in the SDHB, SDHC, and SDHD genes. The unique mechanism of tumorigenesis, including pseudohypoxia and hypermethylation caused by succinate dehydrogenase deficiency, renders target therapy with tyrosine kinase inhibitors ineffective; therefore, complete surgical resection is the optimal treatment in the absence of tumor metastases. Herein, we report the case of a 74-year-old woman with gastric GIST and urinary bladder paraganglioma. Molecular testing on the gastric GIST revealed a cKIT exon 11 mutation, and germline testing showed a variant of uncertain significance in the DIS3L2 gene. The patient has been on imatinib since July 2023 with controlled disease. To the best of our knowledge, this is the first reported case of CSS with a DIS3L2 variant. Further reports and studies are needed to establish a definitive association between this gene and CSS.
{"title":"Phenotypic Carney-Stratakis syndrome with <i>DIS3L2</i> variant: a case challenging the current genetic paradigm.","authors":"Yacob Saleh, Somaya Al Kiswani, Ahmad Muhtaseb, Dhuha Al-Adhami, Majd Khader, Omar Jaber, Abdullah Nofal, Akram Al-Ibraheem","doi":"10.1080/08998280.2025.2551467","DOIUrl":"10.1080/08998280.2025.2551467","url":null,"abstract":"<p><p>Carney-Stratakis syndrome (CSS) is a rare hereditary disorder involving gastrointestinal stromal tumors (GISTs) and paraganglioma/pheochromocytoma, typically linked to mutations in the <i>SDHB</i>, <i>SDHC</i>, and <i>SDHD</i> genes. The unique mechanism of tumorigenesis, including pseudohypoxia and hypermethylation caused by succinate dehydrogenase deficiency, renders target therapy with tyrosine kinase inhibitors ineffective; therefore, complete surgical resection is the optimal treatment in the absence of tumor metastases. Herein, we report the case of a 74-year-old woman with gastric GIST and urinary bladder paraganglioma. Molecular testing on the gastric GIST revealed a <i>cKIT</i> exon 11 mutation, and germline testing showed a variant of uncertain significance in the <i>DIS3L2</i> gene. The patient has been on imatinib since July 2023 with controlled disease. To the best of our knowledge, this is the first reported case of CSS with a <i>DIS3L2</i> variant. Further reports and studies are needed to establish a definitive association between this gene and CSS.</p>","PeriodicalId":8828,"journal":{"name":"Baylor University Medical Center Proceedings","volume":"38 6","pages":"974-978"},"PeriodicalIF":0.0,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12671510/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145666863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-09-02eCollection Date: 2026-01-01DOI: 10.1080/08998280.2025.2552088
Yi Fang, Gueorgui Dubrocq
We report a case of a previously healthy 4-year-old girl who presented with two recurrent episodes of complicated pneumonia and Haemophilus influenzae bacteremia. Immunologic evaluation revealed hypogammaglobulinemia, as immunoglobulins (IgG, IgA, IgM, IgE) were below detectable levels and genetic testing identified a pathogenic TCF3 variant, confirming a diagnosis of TCF3 (transcription factor 3) deficiency. TCF3 is a key transcription factor in B- and T-cell development, and its deficiency results in impaired antibody production and increased susceptibility to infections. This case highlights the rarity of TCF3 mutations in pediatric patients, the importance of early recognition, and the critical role of immunoglobulin replacement therapy as the current mainstay of treatment.
{"title":"A rare case of TCF3-related agammaglobulinemia in a child with recurrent <i>Haemophilus influenzae</i> bacteremia.","authors":"Yi Fang, Gueorgui Dubrocq","doi":"10.1080/08998280.2025.2552088","DOIUrl":"10.1080/08998280.2025.2552088","url":null,"abstract":"<p><p>We report a case of a previously healthy 4-year-old girl who presented with two recurrent episodes of complicated pneumonia and <i>Haemophilus influenzae</i> bacteremia. Immunologic evaluation revealed hypogammaglobulinemia, as immunoglobulins (IgG, IgA, IgM, IgE) were below detectable levels and genetic testing identified a pathogenic <i>TCF3</i> variant, confirming a diagnosis of <i>TCF3</i> (transcription factor 3) deficiency. <i>TCF3</i> is a key transcription factor in B- and T-cell development, and its deficiency results in impaired antibody production and increased susceptibility to infections. This case highlights the rarity of <i>TCF3</i> mutations in pediatric patients, the importance of early recognition, and the critical role of immunoglobulin replacement therapy as the current mainstay of treatment.</p>","PeriodicalId":8828,"journal":{"name":"Baylor University Medical Center Proceedings","volume":"39 1","pages":"152-154"},"PeriodicalIF":0.0,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12758164/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145899324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-08-28eCollection Date: 2025-01-01DOI: 10.1080/08998280.2025.2551439
Seena Firouzbakht, Ali Rizvi, Ariane Mosher, Samya Yaqub, Mark Sigler
BRAF inhibitors are a class of targeted therapies used in the treatment of malignant melanoma. They are the standard of care in the treatment of advanced BRAF-mutated malignant melanoma and are generally well tolerated. However, in rare cases, an adverse effect involving granulomatous lymphadenopathy may occur. This case report discusses a patient receiving BRAF inhibitor therapy who developed mediastinal lymphadenopathy with necrotizing granulomatous disease found on intranodal forceps biopsy.
{"title":"BRAF inhibitor-induced necrotizing granulomatous lymphadenopathy: a case report of drug-induced sarcoid-like reaction.","authors":"Seena Firouzbakht, Ali Rizvi, Ariane Mosher, Samya Yaqub, Mark Sigler","doi":"10.1080/08998280.2025.2551439","DOIUrl":"10.1080/08998280.2025.2551439","url":null,"abstract":"<p><p>BRAF inhibitors are a class of targeted therapies used in the treatment of malignant melanoma. They are the standard of care in the treatment of advanced BRAF-mutated malignant melanoma and are generally well tolerated. However, in rare cases, an adverse effect involving granulomatous lymphadenopathy may occur. This case report discusses a patient receiving BRAF inhibitor therapy who developed mediastinal lymphadenopathy with necrotizing granulomatous disease found on intranodal forceps biopsy.</p>","PeriodicalId":8828,"journal":{"name":"Baylor University Medical Center Proceedings","volume":"38 6","pages":"971-973"},"PeriodicalIF":0.0,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12671502/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145666833","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-08-28eCollection Date: 2025-01-01DOI: 10.1080/08998280.2025.2547338
Rıdvan Turhan, Nezihe Köker, Seda Aydoğan, Asuman Nur Karhan, Hasibe Gökçe Çınar
Neonatal cholestasis is a pathological condition characterized by impaired bile flow in infants, typically presenting within the first 3 months of life. While common etiologies include biliary atresia, metabolic disorders, and infections, rare causes such as congenital portosystemic shunts must also be considered in the differential diagnosis. We present the case of a term infant with a congenital portosystemic shunt who presented with cholestasis and hyperammonemia. Bilirubin and liver function enzymes gradually decreased after initiation of ursodeoxycholic acid therapy. In newborns presenting with hypoglycemia, cholestasis, and thrombocytopenia, initial investigations are usually performed for metabolic diseases, congenital infections (toxoplasmosis, cytomegalovirus, rubella, herpes simplex virus), and genetic causes. As these tests may take time to return, early radiological imaging should be pursued to evaluate for anatomical abnormalities.
{"title":"A rare cause of neonatal cholestasis: congenital portosystemic shunt.","authors":"Rıdvan Turhan, Nezihe Köker, Seda Aydoğan, Asuman Nur Karhan, Hasibe Gökçe Çınar","doi":"10.1080/08998280.2025.2547338","DOIUrl":"10.1080/08998280.2025.2547338","url":null,"abstract":"<p><p>Neonatal cholestasis is a pathological condition characterized by impaired bile flow in infants, typically presenting within the first 3 months of life. While common etiologies include biliary atresia, metabolic disorders, and infections, rare causes such as congenital portosystemic shunts must also be considered in the differential diagnosis. We present the case of a term infant with a congenital portosystemic shunt who presented with cholestasis and hyperammonemia. Bilirubin and liver function enzymes gradually decreased after initiation of ursodeoxycholic acid therapy. In newborns presenting with hypoglycemia, cholestasis, and thrombocytopenia, initial investigations are usually performed for metabolic diseases, congenital infections (toxoplasmosis, cytomegalovirus, rubella, herpes simplex virus), and genetic causes. As these tests may take time to return, early radiological imaging should be pursued to evaluate for anatomical abnormalities.</p>","PeriodicalId":8828,"journal":{"name":"Baylor University Medical Center Proceedings","volume":"38 6","pages":"967-970"},"PeriodicalIF":0.0,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12671503/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145666835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-08-26eCollection Date: 2025-01-01DOI: 10.1080/08998280.2025.2546239
Tommy Wright, Timothy Kouo, Gregory J McKenna, Hoylan Fernandez, Giovanna Saracino, Richard Ruiz
Background: The superiority of incision type in liver transplant has yet to be clearly established.
Methods: In this study, we reviewed all liver-only transplant recipients at the Simmons Transplant Institute from 2012 to 2018 and divided them based on two incision types: Mercedes (M) and hockey stick (HS).
Results: A total of 765 patients met inclusion criteria: 278 had an M incision (36%) and 487 had an HS incision (64%). There was no difference between groups based on sex, age, body mass index, presence of ascites pretransplant, and prior open abdominal surgeries. After transplant, the incidence of fascial dehiscence and subsequent incisional hernia repairs between groups was the same. However, patients with an M incision had more wound infections (4.3% vs 1.2%, P = 0.007), required more wound vacuum-assisted closure device placements (25% vs 13%, P < 0.001), and had higher rates of washouts (25% vs 14%, P < 0.001). There was no difference in wound complications between the use of polydioxanone or polypropylene (Prolene) as the fascial closing suture of choice. Significant risk factors for the development of an incisional hernia included sex, age, and body mass index.
Conclusion: Our results indicate that M incisions require greater postoperative wound care.
{"title":"Wound complications in liver transplantation: effect of incision type and suture material.","authors":"Tommy Wright, Timothy Kouo, Gregory J McKenna, Hoylan Fernandez, Giovanna Saracino, Richard Ruiz","doi":"10.1080/08998280.2025.2546239","DOIUrl":"10.1080/08998280.2025.2546239","url":null,"abstract":"<p><strong>Background: </strong>The superiority of incision type in liver transplant has yet to be clearly established.</p><p><strong>Methods: </strong>In this study, we reviewed all liver-only transplant recipients at the Simmons Transplant Institute from 2012 to 2018 and divided them based on two incision types: Mercedes (M) and hockey stick (HS).</p><p><strong>Results: </strong>A total of 765 patients met inclusion criteria: 278 had an M incision (36%) and 487 had an HS incision (64%). There was no difference between groups based on sex, age, body mass index, presence of ascites pretransplant, and prior open abdominal surgeries. After transplant, the incidence of fascial dehiscence and subsequent incisional hernia repairs between groups was the same. However, patients with an M incision had more wound infections (4.3% vs 1.2%, <i>P</i> = 0.007), required more wound vacuum-assisted closure device placements (25% vs 13%, <i>P</i> < 0.001), and had higher rates of washouts (25% vs 14%, <i>P</i> < 0.001). There was no difference in wound complications between the use of polydioxanone or polypropylene (Prolene) as the fascial closing suture of choice. Significant risk factors for the development of an incisional hernia included sex, age, and body mass index.</p><p><strong>Conclusion: </strong>Our results indicate that M incisions require greater postoperative wound care.</p>","PeriodicalId":8828,"journal":{"name":"Baylor University Medical Center Proceedings","volume":"38 6","pages":"851-856"},"PeriodicalIF":0.0,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12671509/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145666844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}