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Evaluation of systemic inflammation markers in patients with Hashimoto's thyroiditis. 评估桥本氏甲状腺炎患者的全身炎症指标。
IF 1.4 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-09-01 DOI: 10.1177/03000605241280049
Ahmet Bozdag, Pinar Gundogan Bozdag

Objective: To investigate markers of systemic inflammation and the effect of thyroid dysfunction on these parameters in patients with Hashimoto's thyroiditis (HT).

Methods: Patients with HT and volunteer healthy individuals admitted to the general surgery outpatient clinic between January 2020 and June 2023 were enrolled into the study. Patients with HT were divided into euthyroid, hypothyroid, and hyperthyroid subgroups. All participant data were retrospectively extracted from the hospital database.

Results: A total of 268 patients (euthyroid, n = 131; hypothyroid, n = 83; and hyperthyroid, n = 54) and 124 controls were included. The platelet-to-lymphocyte ratio was lower in the euthyroid group versus control group, and the neutrophil-to-lymphocyte ratio was lower in controls than the three patient subgroups. Euthyroid and hypothyroid patients with HT exhibited a higher systemic inflammation index than the control group. The pan-immune inflammation index was lower in controls than in euthyroid, hypothyroid, and hyperthyroid patients with HT. In patients with HT, inflammation markers did not significantly differ between subgroups.

Conclusions: Markers of systemic inflammation provide meaningful and reliable information in patients with HT, but do not differentiate between euthyroid, hypothyroid, or hyperthyroid patients.

目的研究桥本氏甲状腺炎(HT)患者全身炎症指标以及甲状腺功能障碍对这些指标的影响:研究对象为 2020 年 1 月至 2023 年 6 月期间在普外科门诊就诊的桥本氏甲状腺炎患者和健康志愿者。HT患者被分为甲状腺功能亢进亚组、甲状腺功能减退亚组和甲状腺功能亢进亚组。所有参与者的数据均从医院数据库中回顾性提取:共纳入 268 名患者(甲状腺功能亢进,131 人;甲状腺功能减退,83 人;甲状腺功能亢进,54 人)和 124 名对照组。甲状腺功能亢进组与对照组的血小板与淋巴细胞比值较低,对照组的中性粒细胞与淋巴细胞比值低于三个患者亚组。甲状腺功能亢进症患者和甲状腺功能减退症患者的全身炎症指数高于对照组。对照组的泛免疫炎症指数低于甲状腺功能亢进症患者、甲状腺功能减退症患者和甲状腺功能亢进症患者。在高血压患者中,炎症标志物在不同亚组之间没有明显差异:全身炎症指标可为 HT 患者提供有意义且可靠的信息,但不能区分甲状腺功能亢进、甲状腺功能减退或甲状腺功能亢进患者。
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引用次数: 0
Unusual renal displacement due to massive splenomegaly: a rare case report and review of literature. 巨大脾肿大导致的异常肾脏移位:罕见病例报告和文献综述。
IF 1.4 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-09-01 DOI: 10.1177/03000605241279812
Zhihua He, Wuhao Liu, Jiafu Xiao, Guancheng Xiao

Here, the case of a female patient in her late 60s, who presented to hospital for a scheduled health check relating to a history of myelofibrosis for the previous 9 years, is described. She recently experienced weight loss and abdominal distention. Physical examination revealed no abnormality or tenderness. Laboratory examination showed decreased blood cells, platelets and haemoglobin, and normal renal function. Ultrasound and computed tomography scans revealed a massively enlarged spleen and displaced and compressed left kidney with abnormal features, but normal right kidney. The patient declined surgery and her myelofibrosis was treated with ruxolitinib, with a recommendation of annual follow-up observation. Despite many recorded cases of left renal displacement caused by splenomegaly, it is very rare for the left kidney to be pushed across the midline to the right side by an enlarged spleen. This article explores the causes and management of this uncommon condition and provides a review of previous literature reports with the aim of enhancing the understanding of unusual renal displacement due to massive splenomegaly, and its potential treatment options.

这里描述的是一名 60 多岁女性患者的病例,她因过去 9 年的骨髓纤维化病史到医院进行定期健康检查。她最近出现体重减轻和腹胀。体格检查未发现异常或压痛。实验室检查显示血细胞、血小板和血红蛋白减少,肾功能正常。超声波和计算机断层扫描显示脾脏严重肿大,左肾移位和受压并伴有异常特征,但右肾正常。患者拒绝手术治疗,她的骨髓纤维化接受了鲁索利替尼治疗,并建议每年进行随访观察。尽管有许多因脾脏肿大导致左肾移位的病例记录,但左肾被肿大的脾脏越过中线推向右侧的情况非常罕见。本文探讨了这一罕见病症的病因和处理方法,并对以往的文献报道进行了回顾,旨在加深人们对巨大脾肿大引起的异常肾脏移位及其潜在治疗方案的了解。
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引用次数: 0
Acute lymphoblastic leukemia with pneumatosis cystoides intestinalis after hematopoietic stem cell transplantation: a case report. 急性淋巴细胞白血病伴造血干细胞移植后肠气肿囊肿:病例报告。
IF 1.4 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-09-01 DOI: 10.1177/03000605241274581
Sha-Sha You, Zhou-Ning Lin, Li-Xia Sheng, Yan-Li Lai

Pneumatosis cystoides intestinalis (PCI) is a rare condition characterized by air accumulation within the subserosa or submucosa of the gastrointestinal wall. We herein report a case involving a woman in her early 30s who developed PCI after undergoing allogeneic hematopoietic stem cell transplantation (HSCT) for acute lymphoblastic leukemia. The patient had a history of multiple COVID-19 infections. Imaging revealed extensive pneumoperitoneum and mesenteric emphysema; nevertheless, the patient remained clinically stable with a benign abdominal examination. She eventually recovered after 1 month of conservative treatment. We believe the PCI in this case had a multifactorial etiology, potentially involving both HSCT and COVID-19. Raising awareness of PCI may help avoid unnecessary surgical interventions and associated morbidity.

肠腔积气(PCI)是一种罕见的疾病,其特征是胃肠壁的粘膜下或粘膜下有空气积聚。我们在此报告了一例因急性淋巴细胞白血病接受异基因造血干细胞移植(HSCT)后患上肠腔积气的 30 多岁女性病例。患者有多次COVID-19感染病史。影像学检查发现了广泛的腹腔积气和肠系膜气肿;尽管如此,患者的临床状况依然稳定,腹部检查呈良性。经过一个月的保守治疗,她最终康复了。我们认为本病例中的 PCI 有多因素病因,可能涉及造血干细胞移植和 COVID-19。提高对 PCI 的认识有助于避免不必要的外科干预和相关发病率。
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引用次数: 0
Causal associations between COVID-19 and erectile dysfunction: a Mendelian randomization study. COVID-19 与勃起功能障碍之间的因果关系:孟德尔随机研究。
IF 1.4 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-09-01 DOI: 10.1177/03000605241274236
Chao Ma, Li Ma, Pu Wang

Objective: In this study, we aimed to explore the potential association between COVID-19 infection, hospitalization, severe COVID-19, and erection dysfunction (ED) using the two-sample Mendelian randomization (MR) method.

Methods: Data pertaining to COVID-19 were extracted from the latest version of the COVID-19 Host Genetics Initiative genome-wide association study (GWAS) meta-analyses (Round 7, April 2022), and outcome data were obtained from the Open GWAS database. We applied various MR analysis methods, including the inverse variance weighted method, weighted median method, and MR-Egger regression.

Results: Our investigation revealed a negative causal association between COVID-19 hospitalization and ED (total testosterone levels: beta = -0.026; 95% confidence interval: -0.049 to -0.001). However, no evidence supported causal relationships between COVID-19 infection, hospitalization for COVID-19, or severe COVID-19 and other ED risk factors.

Conclusion: The results of this comprehensive MR analysis suggest a negative causal link between COVID-19 hospitalization and total testosterone levels. Nonetheless, COVID-19 (comprising infection, hospitalization, and severe illness) may not directly correlate with an increased risk of ED. These findings imply that COVID-19 may exert a distinct impact on ED through indirect pathways.

研究目的本研究旨在利用双样本孟德尔随机化(MR)方法探讨COVID-19感染、住院、严重COVID-19和勃起功能障碍(ED)之间的潜在关联:与COVID-19相关的数据提取自最新版的COVID-19宿主遗传学倡议全基因组关联研究(GWAS)荟萃分析(第7轮,2022年4月),结果数据来自开放式GWAS数据库。我们采用了多种MR分析方法,包括逆方差加权法、加权中值法和MR-Egger回归法:我们的调查显示,COVID-19住院治疗与ED之间存在负因果关系(总睾酮水平:β=-0.026;95%置信区间:-0.049至-0.001)。然而,没有证据支持COVID-19感染、COVID-19住院或严重COVID-19与其他ED风险因素之间存在因果关系:这项全面的 MR 分析结果表明,COVID-19 住院治疗与总睾酮水平之间存在负因果关系。然而,COVID-19(包括感染、住院和重病)可能与 ED 风险的增加并不直接相关。这些研究结果表明,COVID-19 可能通过间接途径对 ED 产生独特的影响。
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引用次数: 0
Are important predictors of adverse outcome in children with symptomatic congenital cytomegalovirus infection overlooked in clinical settings? 无症状先天性巨细胞病毒感染患儿不良预后的重要预测因素是否在临床中被忽视了?
IF 1.4 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-09-01 DOI: 10.1177/03000605241274226
Ivana Đaković, Ivica Kostović, Katarina Vulin, Iva Prvčić, Goran Tešović, Goran Krakar, Tomislav Gojmerac, Jadranka Sekelj Fureš, Vlatka Mejaški Bošnjak

Objective: Congenital cytomegalovirus infection (cCMV) is a common, frequently unrecognized cause of childhood disability. The aim of the present study was to determine the symptoms that raise the suspicion of cCMV, define the neurodevelopmental outcomes, and assess their correlations.

Methods: This longitudinal observational study comprised 78 children with symptomatic cCMV who underwent neuropediatric follow-up for 4 to 17.9 years.

Results: Symptoms of central nervous system involvement, hearing/visual impairments, and hepatic involvement were mostly recognized. The average age of disease suspicion was 3.3 months. In terms of outcomes, 10.53% of the children developed complex minor neurological dysfunction and 23.68% developed cerebral palsy. Visual and hearing impairments occurred in 38.16% and 14.47% of patients, respectively. Intellectual disability was present in 30.26% of patients, and epilepsy in 21.05%. Microcephaly and hearing impairment was significantly associated with overall neurodevelopmental outcome. Microcephaly was also associated with poor motor outcomes, hearing impairment, and severe visual impairment. Furthermore, microcephaly and intrauterine growth restriction were significantly associated with poor cognitive outcomes.

Conclusion: Symptoms that raised the suspicion of cCMV-especially microcephaly, hearing impairment, and intrauterine growth restriction-were important parameters that were associated with outcomes; however, their recognition was often insufficient and/or late.

目的:先天性巨细胞病毒感染(cCMV先天性巨细胞病毒感染(cCMV)是导致儿童残疾的常见病因,但常常不被人们所认识。本研究旨在确定引起对 cCMV 怀疑的症状、确定神经发育结果并评估其相关性:这项纵向观察研究包括 78 名有症状的 cCMV 患儿,他们接受了 4 至 17.9 年的神经儿科随访:结果:大多数患儿都有中枢神经系统受累、听力/视力障碍和肝脏受累的症状。怀疑患病的平均年龄为 3.3 个月。就结果而言,10.53%的患儿出现复杂的轻微神经功能障碍,23.68%的患儿出现脑瘫。分别有 38.16% 和 14.47% 的患者出现视力和听力障碍。30.26%的患者存在智力障碍,21.05%的患者患有癫痫。小头畸形和听力障碍与总体神经发育结果显著相关。小头畸形还与运动能力差、听力障碍和严重视力障碍有关。此外,小头畸形和胎儿宫内生长受限与认知能力差有显著相关性:结论:小头畸形、听力障碍和宫内生长受限等症状引起了对 cCMV 的怀疑,这些症状是与预后相关的重要参数;然而,对这些症状的识别往往不够充分和/或较晚。
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引用次数: 0
Hybrid convolutional neural network optimized with an artificial algae algorithm for glaucoma screening using fundus images. 使用人工藻类算法优化的混合卷积神经网络,利用眼底图像筛查青光眼。
IF 1.4 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-09-01 DOI: 10.1177/03000605241271766
M Shanmuga Eswari, S Balamurali, Lakshmana Kumar Ramasamy

Objective: We developed an optimized decision support system for retinal fundus image-based glaucoma screening.

Methods: We combined computer vision algorithms with a convolutional network for fundus images and applied a faster region-based convolutional neural network (FRCNN) and artificial algae algorithm with support vector machine (AAASVM) classifiers. Optic boundary detection, optic cup, and optic disc segmentations were conducted using TernausNet. Glaucoma screening was performed using the optimized FRCNN. The Softmax layer was replaced with an SVM classifier layer and optimized with an AAA to attain enhanced accuracy.

Results: Using three retinal fundus image datasets (G1020, digital retinal images vessel extraction, and high-resolution fundus), we obtained accuracy of 95.11%, 92.87%, and 93.7%, respectively. Framework accuracy was amplified with an adaptive gradient algorithm optimizer FRCNN (AFRCNN), which achieved average accuracy 94.06%, sensitivity 93.353%, and specificity 94.706%. AAASVM obtained average accuracy of 96.52%, which was 3% ahead of the FRCNN classifier. These classifiers had areas under the curve of 0.9, 0.85, and 0.87, respectively.

Conclusion: Based on statistical Friedman evaluation, AAASVM was the best glaucoma screening model. Segmented and classified images can be directed to the health care system to assess patients' progress. This computer-aided decision support system will be useful for optometrists.

目的:我们为基于视网膜眼底图像的青光眼筛查开发了优化的决策支持系统:我们为基于视网膜眼底图像的青光眼筛查开发了一个优化的决策支持系统:我们将计算机视觉算法与眼底图像的卷积网络相结合,并应用了更快的基于区域的卷积神经网络(FRCNN)和支持向量机的人工藻类算法(AAASVM)分类器。使用 TernausNet 进行了视边界检测、视杯和视盘分割。青光眼筛查使用优化的 FRCNN 进行。用 SVM 分类器层取代了 Softmax 层,并用 AAA 进行了优化,以提高准确性:使用三个视网膜眼底图像数据集(G1020、数字视网膜图像血管提取和高分辨率眼底),我们分别获得了 95.11%、92.87% 和 93.7% 的准确率。采用自适应梯度算法优化器 FRCNN(AFRCNN)提高了框架的准确性,其平均准确率为 94.06%,灵敏度为 93.353%,特异性为 94.706%。AAASVM 的平均准确率为 96.52%,比 FRCNN 分类器高出 3%。这些分类器的曲线下面积分别为 0.9、0.85 和 0.87:根据弗里德曼的统计评估,AAASVM 是最佳的青光眼筛查模型。经过分割和分类的图像可直接导入医疗系统,以评估患者的病情进展。这种计算机辅助决策支持系统对视光师很有帮助。
{"title":"Hybrid convolutional neural network optimized with an artificial algae algorithm for glaucoma screening using fundus images.","authors":"M Shanmuga Eswari, S Balamurali, Lakshmana Kumar Ramasamy","doi":"10.1177/03000605241271766","DOIUrl":"https://doi.org/10.1177/03000605241271766","url":null,"abstract":"<p><strong>Objective: </strong>We developed an optimized decision support system for retinal fundus image-based glaucoma screening.</p><p><strong>Methods: </strong>We combined computer vision algorithms with a convolutional network for fundus images and applied a faster region-based convolutional neural network (FRCNN) and artificial algae algorithm with support vector machine (AAASVM) classifiers. Optic boundary detection, optic cup, and optic disc segmentations were conducted using TernausNet. Glaucoma screening was performed using the optimized FRCNN. The Softmax layer was replaced with an SVM classifier layer and optimized with an AAA to attain enhanced accuracy.</p><p><strong>Results: </strong>Using three retinal fundus image datasets (G1020, digital retinal images vessel extraction, and high-resolution fundus), we obtained accuracy of 95.11%, 92.87%, and 93.7%, respectively. Framework accuracy was amplified with an adaptive gradient algorithm optimizer FRCNN (AFRCNN), which achieved average accuracy 94.06%, sensitivity 93.353%, and specificity 94.706%. AAASVM obtained average accuracy of 96.52%, which was 3% ahead of the FRCNN classifier. These classifiers had areas under the curve of 0.9, 0.85, and 0.87, respectively.</p><p><strong>Conclusion: </strong>Based on statistical Friedman evaluation, AAASVM was the best glaucoma screening model. Segmented and classified images can be directed to the health care system to assess patients' progress. This computer-aided decision support system will be useful for optometrists.</p>","PeriodicalId":16129,"journal":{"name":"Journal of International Medical Research","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289295","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
Comparison of Qanadli score with conventional risk stratifiers in non-massive pulmonary emboli. Qanadli 评分与非大面积肺栓塞传统风险分层法的比较。
IF 1.4 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-09-01 DOI: 10.1177/03000605241276481
Shokoufeh Hajsadeghi, Ali Shamsedini, Pooriya Bahadoran, Erfan Amouei, Shayan Mirshafiee

Objective: The management and risk stratification of non-massive pulmonary embolism (PE) remain unclear. However, early assessment of PE severity can aid physicians in establishing better treatment milestones. There has been no direct comparison of mortality rates in patients with non-massive PE, and existing data are sometimes contradictory. Therefore, we examined the relationship between the Qanadli index and conventional risk stratifiers in PE.

Methods: We retrospectively analyzed 200 consecutively selected patients diagnosed with PE. The assessment included computed tomography pulmonary angiography, electrocardiography, echocardiography findings, outcomes, and a comparison with the Simplified Pulmonary Embolism Severity Index (SPESI) score. Descriptive, regression, and receiver operating characteristic analyses were performed.

Results: The mean Qanadli score was 13.5 ± 1.15. Pearson correlation analysis revealed significant associations between the total Qanadli score and several variables: right ventricular enlargement, follow-up ejection fraction, and SPESI score. Although the Qanadli score did not significantly predict mortality, the risk of death increased by 58.8% for each 1-unit increase in the SPESI score.

Conclusions: Although the Qanadli index is valuable in assessing PE and guiding treatment strategies, its standalone predictive value for mortality may be insufficient. Therefore, incorporating scoring systems such as the SPESI and echocardiographic findings is recommended for more accurate mortality prediction.

目的:非大面积肺栓塞(PE)的治疗和风险分层仍不明确。不过,早期评估 PE 的严重程度有助于医生制定更好的治疗里程碑。目前尚未对非大面积肺栓塞患者的死亡率进行直接比较,现有数据有时相互矛盾。因此,我们研究了 Qanadli 指数与 PE 传统风险分层指标之间的关系:方法:我们对连续挑选出的 200 名确诊为 PE 的患者进行了回顾性分析。评估内容包括计算机断层扫描肺血管造影、心电图、超声心动图结果、预后以及与简化肺栓塞严重程度指数(SPESI)评分的比较。对结果进行了描述性分析、回归分析和接收器操作特征分析:Qanadli评分的平均值为(13.5 ± 1.15)分。皮尔逊相关分析显示,Qanadli总分与几个变量之间存在显著关联:右心室扩大、随访射血分数和SPESI评分。虽然Qanadli评分不能显著预测死亡率,但SPESI评分每增加1个单位,死亡风险就会增加58.8%:结论:尽管卡纳德利指数在评估 PE 和指导治疗策略方面很有价值,但其单独预测死亡率的价值可能不足。因此,建议结合 SPESI 等评分系统和超声心动图检查结果,以更准确地预测死亡率。
{"title":"Comparison of Qanadli score with conventional risk stratifiers in non-massive pulmonary emboli.","authors":"Shokoufeh Hajsadeghi, Ali Shamsedini, Pooriya Bahadoran, Erfan Amouei, Shayan Mirshafiee","doi":"10.1177/03000605241276481","DOIUrl":"10.1177/03000605241276481","url":null,"abstract":"<p><strong>Objective: </strong>The management and risk stratification of non-massive pulmonary embolism (PE) remain unclear. However, early assessment of PE severity can aid physicians in establishing better treatment milestones. There has been no direct comparison of mortality rates in patients with non-massive PE, and existing data are sometimes contradictory. Therefore, we examined the relationship between the Qanadli index and conventional risk stratifiers in PE.</p><p><strong>Methods: </strong>We retrospectively analyzed 200 consecutively selected patients diagnosed with PE. The assessment included computed tomography pulmonary angiography, electrocardiography, echocardiography findings, outcomes, and a comparison with the Simplified Pulmonary Embolism Severity Index (SPESI) score. Descriptive, regression, and receiver operating characteristic analyses were performed.</p><p><strong>Results: </strong>The mean Qanadli score was 13.5 ± 1.15. Pearson correlation analysis revealed significant associations between the total Qanadli score and several variables: right ventricular enlargement, follow-up ejection fraction, and SPESI score. Although the Qanadli score did not significantly predict mortality, the risk of death increased by 58.8% for each 1-unit increase in the SPESI score.</p><p><strong>Conclusions: </strong>Although the Qanadli index is valuable in assessing PE and guiding treatment strategies, its standalone predictive value for mortality may be insufficient. Therefore, incorporating scoring systems such as the SPESI and echocardiographic findings is recommended for more accurate mortality prediction.</p>","PeriodicalId":16129,"journal":{"name":"Journal of International Medical Research","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289293","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
Eosinophilic ascites and enteritis: a neglected case report from Vietnam. 嗜酸性粒细胞腹水和肠炎:越南一例被忽视的病例报告。
IF 1.4 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-09-01 DOI: 10.1177/03000605241277401
Tien Manh Huynh, Nhu Thi Hanh Vu, Tran Thi Luong Vo, Duy Le Pham, Phat Tan Ho, Duc Trong Quach

Eosinophilic gastroenteritis poses a significant diagnostic challenge, particularly in developing countries, where the awareness of this condition may be limited. Here, the case of a patient in her early 30s, who presented with recurrent episodes of abdominal pain and diarrhea, is reported. Initial standard laboratory investigations revealed normal complete blood counts and elevated total serum immunoglobulin E levels. Upper and lower endoscopic evaluations with systemic biopsies did not reveal any significant abnormalities. However, computed tomography revealed a thickened small intestine wall, halo signs, and mild ascites. Analysis of the ascitic fluid confirmed eosinophilia. These findings prompted a diagnosis of eosinophilic gastroenteritis. The patient responded well to a targeted elimination diet, corticosteroids, and antileukotriene medication. The present case emphasizes the importance of considering eosinophilic gastroenteritis in the differential diagnosis of patients who present with abdominal pain and eosinophilic ascites.

嗜酸性粒细胞性胃肠炎给诊断带来了巨大挑战,尤其是在发展中国家,人们对这种疾病的认识可能有限。这里报告的病例是一名 30 岁出头的患者,反复发作腹痛和腹泻。最初的标准实验室检查显示全血细胞计数正常,血清总免疫球蛋白 E 水平升高。上、下内窥镜评估和系统活检未发现任何明显异常。然而,计算机断层扫描显示小肠壁增厚、晕轮征和轻度腹水。腹水分析证实了嗜酸性粒细胞增多。这些结果提示了嗜酸性粒细胞性胃肠炎的诊断。患者对有针对性的消除饮食、皮质类固醇和抗白三烯药物反应良好。本病例强调了在对出现腹痛和嗜酸性粒细胞腹水的患者进行鉴别诊断时考虑嗜酸性粒细胞胃肠炎的重要性。
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引用次数: 0
Paraganglioma-induced pheochromocytoma crisis successfully treated by veno-arterial extracorporeal membrane oxygenation: a case report. 通过静脉-动脉体外膜氧合成功治疗副神经节瘤诱发的嗜铬细胞瘤危象:病例报告。
IF 1.4 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-09-01 DOI: 10.1177/03000605241270655
Mengqi Tong, Shan Wang, Ying Bai, Hao Wang

Pheochromocytoma crisis is rare but potentially fatal if not recognized early and properly managed. Here, a woman in her 20s with a paraganglioma-induced pheochromocytoma crisis, who was successfully treated by veno-arterial extracorporeal membrane oxygenation (VA-ECMO) and interval tumor resection, is described. In July 2022, the patient was brought to hospital with a complaint of sudden-onset of palpitations with vomiting. The patient developed cardiorespiratory failure with hypoxia. Computed tomography scan showed pulmonary oedema and a mass anterior to the inferior vena cava. She was transferred to the intensive care unit and treated with VA-ECMO. The patient's ECMO was withdrawn after 6 days without any complications. After hemodynamic stabilization, the patient underwent tumor resection 4 months later. The postoperative course was uneventful and she was discharged on postoperative day 7. Histopathological analysis confirmed a paraganglioma. VA-ECMO may play a significant role in saving lives and providing time for accurate diagnosis and specific treatment of a patient with pheochromocytoma crisis. Appropriate individual management can help avoid the occurrence of ECMO complications.

嗜铬细胞瘤危象虽然罕见,但如果不及早发现和妥善处理,有可能致命。本文描述了一名20多岁女性因患副神经节瘤引发的嗜铬细胞瘤危象而接受静脉-动脉体外膜氧合(VA-ECMO)和间期肿瘤切除术的成功治疗。2022 年 7 月,患者因突发心悸并伴有呕吐被送往医院。患者出现心肺功能衰竭,伴有缺氧。计算机断层扫描显示肺水肿,下腔静脉前方有肿块。她被转入重症监护室,接受了 VA-ECMO 治疗。6 天后,患者的 ECMO 被撤除,未出现任何并发症。血液动力学稳定后,患者在 4 个月后接受了肿瘤切除术。术后过程顺利,她于术后第 7 天出院。组织病理分析证实为副神经节瘤。VA-ECMO 可在挽救生命方面发挥重要作用,并为嗜铬细胞瘤危象患者的准确诊断和具体治疗提供时间。适当的个体化管理有助于避免 ECMO 并发症的发生。
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引用次数: 0
Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report. BBS2 基因新型复合杂合子基因型的临床特征:病例报告。
IF 1.4 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-08-01 DOI: 10.1177/03000605241274239
Mojiang Li, Yingshu Li, Ting Wen, Haiyan Zhou, Wanqin Xie

Bardet-Biedl syndrome is a rare autosomal recessive genetic disorder with heterogenous clinical manifestations. The present study reports the clinical features of a novel compound heterozygous genotype of the BBS2 gene in a 14-year-old girl and her 6-year-old sister who had complaints of early-onset low vision. Fundus images revealed retinitis pigmentosa-like changes, and full-field electroretinograms showed no amplitude for the rod or cone response in both patients. Interestingly, nystagmus was observed in the older sister. On physical examination, the sisters had moderate obesity without polydactyly, hypogonadism, or intellectual disability. Exome sequencing revealed a novel compound heterozygous genotype of BBS2 in the sisters, namely the paternally inherited NM_031885.5:c.534 + 1G > T variant and the maternally inherited NM_031885.5:c.700C > T (p.Arg234Ter) variant. Both variants were classified as pathogenic according to the American College of Medical Genetics and Genomics guidelines. This study provides useful information on the genotype-phenotype relationships of the BBS2 gene for genetic counseling and diagnosis.

巴尔德-比德尔综合征(Bardet-Biedl Syndrome)是一种罕见的常染色体隐性遗传疾病,具有不同的临床表现。本研究报告了一名 14 岁女孩及其 6 岁妹妹的 BBS2 基因新型复合杂合基因型的临床特征。眼底图像显示出视网膜色素变性样改变,全视野视网膜电图显示这两名患者的视杆细胞或视锥细胞均无振幅反应。有趣的是,姐姐出现了眼球震颤。经体格检查,姐妹俩均为中度肥胖,但没有多指畸形、性腺功能低下或智力障碍。外显子组测序发现,姐妹俩的 BBS2 存在一种新型复合杂合基因型,即父方遗传的 NM_031885.5:c.534 + 1G > T 变异和母方遗传的 NM_031885.5:c.700C > T (p.Arg234Ter) 变异。根据美国医学遗传学和基因组学学院(American College of Medical Genetics and Genomics)的指南,这两个变异均被归类为致病性变异。这项研究为遗传咨询和诊断提供了有关 BBS2 基因基因型与表型关系的有用信息。
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引用次数: 0
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