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Serum Levels of Coagulation Factors in Patients with Inflammatory Bowel Disease. 炎症性肠病患者血清凝血因子水平
Q3 Medicine Pub Date : 2026-01-01 Epub Date: 2025-11-11 DOI: 10.30699/IJP.2025.2061251.3460
Bahram Memar, Ali Moradi, Shohreh Khatami, Hassan Vosoughinia, Mitra Ahadi

Background & objective: Inflammatory bowel diseases (IBD) is described by increased coagulability and prothrombotic state and can be associated with coagulopathies. Although many causes of increased coagulability and thrombosis have been reported in IBD, there is no definitive evidence for most of them. This study aimed to define the changes in Blood Coagulation Factors in patients with IBD compared to healthy controls.

Methods: In this case-control study, serum levels of protein C, protein S, antithrombin III, fibrinogen, and Homocysteine were evaluated in 59 patients with a confirmed IBD, (23 with Crohn disease and 36 with ulcerative colitis) (case group) and 29 healthy individuals (control group) matched for age and gender.

Results & conclusion: Significant differences were found in all five studied markers between IBD and non-IBD patients (protein C (P=0.033), protein S (P=0.006), antithrombin III (P<0.001), fibrinogen (P=0.016) and Homocysteine ​​(P<0.001)), however, multivariate analysis showed a significant role for only Homocysteine (OR=0.957, 95%CI: 0.93-0.986, P=0.003) in predicting IBD. Regarding the results, it can be alleged that despite the significant difference in the level of Blood Coagulation Factors between the IBD and non-IBD patients, only the serum level of Homocysteine has a predictive role for IBD.

背景与目的:炎症性肠病(IBD)表现为凝血能力和血栓形成前状态增高,可能与凝血功能障碍相关。虽然在IBD中已经报道了许多引起凝血能力增强和血栓形成的原因,但大多数原因都没有明确的证据。本研究旨在确定与健康对照相比,IBD患者凝血因子的变化。方法:在本病例对照研究中,对59例确诊IBD患者(克罗恩病23例,溃疡性结肠炎36例)(病例组)和29例年龄和性别匹配的健康个体(对照组)进行血清蛋白C、蛋白S、抗凝血酶III、纤维蛋白原和同型半胱氨酸水平的检测。结果与结论:显著差异被发现在所有5个研究标记IBD和non-IBD之间患者(蛋白C (P = 0.033),蛋白S (P = 0.006),抗凝血酶III (P
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引用次数: 0
Right Atrium Large Masses Due to Endocarditis Following Permcath Insertion After Covid-19-Induced Renal Failure. 冠状病毒引起的肾功能衰竭后插入永久导管后心内膜炎引起的右心房大肿块。
Q3 Medicine Pub Date : 2026-01-01 Epub Date: 2025-11-11 DOI: 10.30699/ijp.2025.2068882.3506
Seyed Mohsen Mirhosseini, Hossein Yarmohammadi, Arash Anisian, Fatemeh Ravand, Mahdi Rezaei, Masood Soltanipu

Background & objective: COVID-19 infection is known to affect the kidneys, potentially resulting in Acute Kidney Injury (AKI). In some patients, however, renal failure may necessitate hemodialysis following a COVID-19 infection. Pneumothorax, hemothorax, cardiac arrhythmias, and endocarditis are some complications associated with Permcath insertion, a type of vascular access used in hemodialysis.

Case presentation: In this report, we present a 29-year-old man who suffered from endocarditis following hemodialysis treatments through a Permcath because of acute renal failure following COVID-19. Removing the large masses (3×3 cm) inside the right atrium (RA) and taking out the Permcath was completed surgically.

Conclusion: A suitable Permcath and its accurate insertion are recommended to provide prompt AKI treatment and prevent further complications, such as endocarditis and thrombosis.

背景与目的:已知COVID-19感染会影响肾脏,可能导致急性肾损伤(AKI)。然而,在一些患者中,在COVID-19感染后,肾功能衰竭可能需要血液透析。气胸、血胸、心律失常和心内膜炎是与Permcath插入相关的一些并发症,Permcath插入是一种用于血液透析的血管通路。病例介绍:在本报告中,我们报告了一名29岁的男性,由于COVID-19后急性肾功能衰竭,通过Permcath进行血液透析治疗后出现心内膜炎。手术切除右心房(RA)内的大肿块(3×3 cm)并取出Permcath。结论:推荐使用合适的Permcath并准确插入,可及时治疗AKI,防止心内膜炎、血栓形成等并发症的发生。
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引用次数: 0
Plasmacytoma of the Cervix Possibly Caused by Neglected Pessary: A Case Report and Literature Review. 宫颈浆细胞瘤可能由子宫内膜疏忽引起:1例报告及文献复习。
Q3 Medicine Pub Date : 2026-01-01 Epub Date: 2025-11-11 DOI: 10.30699/ijp.2025.2061514.3465
Noviana Nugrohowati, Bening Rahimi Titisari, Hanggoro Tri Rinonce, Rita Cempaka, Irianiwati Widodo Widodo, Tania Kusuma

Background & objective: Plasmacytoma is a rare plasma cell dyscrasia marked by localized monoclonal plasma cell proliferation, distinct from multiple myeloma by its lack of systemic symptoms. Extramedullary plasmacytoma (EMP), the rarest form, typically occurs in the upper respiratory tract. Cervical involvement is rare. Chronic inflammation may play a role in the development of cervical plasmacytoma, though this remains unproven for cervical cases.

Case presentation: We present a unique case of a 74-year-old woman who presented with vaginal bleeding linked to a neglected pessary inserted 15 years earlier. Upon examination, we discovered overgrown tissue with active bleeding. The biopsy revealed a monomorphic plasma cell infiltration, and immunohistochemistry confirmed CD138-positive, BCL2-negative cervical plasmacytoma, a rare occurrence in the cervix.

Conclusion: This case highlights the importance of considering cervical EMP in atypical cytology and suggests a possible link to chronic pessary-induced inflammation. Early diagnosis through histopathology and immunohistochemistry is essential.

背景与目的:浆细胞瘤是一种罕见的浆细胞病变,以局部单克隆浆细胞增生为特征,与多发性骨髓瘤不同,它没有全身性症状。髓外浆细胞瘤(EMP)是最罕见的类型,通常发生在上呼吸道。很少累及颈椎。慢性炎症可能在宫颈浆细胞瘤的发展中起作用,尽管这在宫颈病例中尚未得到证实。病例介绍:我们提出了一个独特的情况下,74岁的妇女谁提出阴道出血与一个被忽视的子宫托插入15年前。经检查,我们发现过度生长的组织伴有活动性出血。活检显示单形态浆细胞浸润,免疫组化证实cd138阳性,bcl2阴性宫颈浆细胞瘤,在宫颈少见。结论:本病例强调了在非典型细胞学中考虑宫颈EMP的重要性,并提示其可能与慢性子宫内膜炎症有关。通过组织病理学和免疫组织化学进行早期诊断是必要的。
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引用次数: 0
Upregulation of the HOXA10-AS1 LncRNA in Gastric Cancer: An Expression and Bioinformatics Analysis. 胃癌中HOXA10-AS1 LncRNA的表达及生物信息学分析
Q3 Medicine Pub Date : 2026-01-01 Epub Date: 2025-11-11 DOI: 10.30699/ijp.2025.2046969.3385
Farideh Ghanbari Mardasi, Sharareh Eskandarieh, Reza Taslimi, Mohsen Eghtedari, Zeinab Jamali, Masoomeh Safaei, Majid Kabuli, Reza Shirkoohi

Background & objective: Gastric cancer (GC) is a lethal disease with poor prognosis. Long non-coding RNAs (lncRNAs) involved in the development of cancer through changes in their expression levels. In present study, we aimed to evaluate HOXA10-AS gene expression and its potential as a biomarker in GC.

Methods: In this study 60 subjects (30 gastric carcinoma tissues and 30 adjacent non-carcinoma tissues) were examined. The expression level of the HOXA10-AS gene was evaluated using quantitative PCR. Furthermore, clinicopathological characteristicswere taken into consideration. Diagnostic value of the HOXA10-AS was examined by ROC curve analysis. Bioinformatics analysis was performed using different databases.

Results: Expression of HOXA10-AS was significantly upregulated in GC tumoral tissues. Roc curve analysis revealed that the diagnostic power of HOXA10-AS was high (AUC = 0.64) in the tumor compared to the normal GC tissues.

Conclusion: Our findings show that HOXA10-AS expression level is higher in the GC tumor compared to the adjacent non-carcinoma tissues and can act as a strong diagnostic biomarker in GC patients.

背景与目的:胃癌是一种预后不良的致死性疾病。长链非编码rna (lncRNAs)通过其表达水平的变化参与癌症的发展。在本研究中,我们旨在评估HOXA10-AS基因在GC中的表达及其作为生物标志物的潜力。方法:对60例患者(30例胃癌组织和30例癌旁非癌组织)进行检查。采用定量PCR法检测HOXA10-AS基因的表达水平。此外,还考虑了临床病理特征。采用ROC曲线分析检验HOXA10-AS的诊断价值。使用不同的数据库进行生物信息学分析。结果:HOXA10-AS在胃癌组织中表达明显上调。Roc曲线分析显示,HOXA10-AS在肿瘤中的诊断能力较正常胃癌组织高(AUC = 0.64)。结论:HOXA10-AS在胃癌组织中的表达水平高于癌旁非癌组织,可作为胃癌患者强有力的诊断生物标志物。
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引用次数: 0
Pan-PCR Diagnostic Efficacy in Comparison with Traditional Methods in Patients with Septic Arthritis. 泛pcr与传统方法对脓毒性关节炎的诊断效果比较
Q3 Medicine Pub Date : 2026-01-01 Epub Date: 2025-11-11 DOI: 10.30699/ijp.2025.2058193.3456
Erta Rajabi, Kousha Farhadi, Malihe Hasannezhad, Mahsa Azadbakhsh, Alireza Abdollahi, Seyed Hadi Kalantar, Sara Ghaderkhani

Background & objective: Septic arthritis is an emergent condition caused by an infection of the joint synovial fluid. If left untreated, it can lead to irreversible damage to the affected joint. Our study focused on providing a concise profile of the Iranian population and the diagnostic roles of synovial pan-PCR and culture.

Methods: In an observational study, we evaluated the characteristics of all patients diagnosed with septic arthritis and admitted to a teaching center hospital complex. We extracted and analyzed the study of population's demographics and laboratory values.

Results: This study included 50 patients diagnosed with septic arthritis. 56% of our study population were male, and the mean age was 50.48. There were significant associations between synovial WBC counts and positive synovial culture results. Further comparison of the two diagnostic methods revealed higher pan-PCR accuracy than synovial culture.

Conclusion: Pan-PCR may have higher diagnostic accuracy than synovial culture in hospitalized patients with septic arthritis.

背景与目的:脓毒性关节炎是一种由关节滑液感染引起的急症。如果不及时治疗,它会对受影响的关节造成不可逆转的损害。我们的研究重点是提供伊朗人口的简明概况和滑膜泛pcr和培养的诊断作用。方法:在一项观察性研究中,我们评估了所有被诊断为脓毒性关节炎并入住教学中心医院的患者的特征。我们提取和分析研究人口的人口统计和实验室值。结果:本研究纳入了50例诊断为脓毒性关节炎的患者。56%的研究人群为男性,平均年龄为50.48岁。滑膜白细胞计数与阳性滑膜培养结果之间存在显著关联。两种诊断方法的进一步比较显示泛pcr的准确性高于滑膜培养。结论:Pan-PCR对脓毒性关节炎的诊断准确性高于滑膜培养。
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引用次数: 0
Clinical Outcomes and Predictive Factors in Adrenalectomy: A Retrospective Cohort Study. 肾上腺切除术的临床结果和预测因素:一项回顾性队列研究。
Q3 Medicine Pub Date : 2026-01-01 Epub Date: 2025-11-11 DOI: 10.30699/ijp.2025.2052015.3407
Seyed Alireza Mirsharifi, Shirzad Nasiri, Seyed Mohammad Tavangar, Mohammadamin Parsaei

Background & objective: Adrenal tumors present a notable prevalence of 4-7% in individuals above 40 years old. Current guidelines recommend adrenalectomy for hormone-secreting, potentially malignant, or large (>4 cm) lesions. However, the outcomes of adrenalectomy and their clinical-pathological associations remain poorly defined. This study assessed adrenalectomy outcomes and explored its clinical, demographic, and pathologic correlates.

Methods: In this retrospective cohort study, the medical records of all patients who underwent adrenalectomy from March 2016 to March 2021 at a referral center in Tehran were reviewed. Also, a clinical follow-up via telephone was conducted. The chi-square test, independent t-test, and analysis of variance were utilized for statistical analysis.

Results: Data from a total of 75 patients (55 females) were reviewed. The mean age of the participants was 42.67 years. Of them, 60%, 22.7%, 14.7%, and 1.3% had pheochromocytoma, Cushing's syndrome, Conn's syndrome, and insulinoma, respectively. Malignancy was associated with greater tumor size (p<0.000) and mitotic rate (p=0.046), and the presence of necrosis (p=0.001), and capsular and vascular invasion (p<0.000). Clinical follow-up visits of 45 patients indicated 84.4% showed a complete response to the treatment (surgical ± medical). Treatment response was significantly influenced by approach (laparoscopic favored; p=0.001), surgery duration (<150 minutes better; p=0.017), mass pathology (adenoma favored; p=0.034), and capsular invasion (absence better; p=0.012).

Conclusion: Adrenalectomy outcomes were significantly affected by surgical approach and tumor pathology, notably capsular invasion. Larger studies are needed to determine the predictive values of clinical and pathologic variables in adrenalectomy for adrenal tumors.

背景与目的:肾上腺肿瘤在40岁以上人群中的患病率为4-7%。目前的指南推荐肾上腺激素分泌,潜在恶性或大(bbb4cm)病变切除。然而,肾上腺切除术的结果及其临床病理关系仍然不明确。本研究评估肾上腺切除术的结果,并探讨其临床、人口统计学和病理相关性。方法:在这项回顾性队列研究中,回顾了2016年3月至2021年3月在德黑兰一家转诊中心接受肾上腺切除术的所有患者的医疗记录。同时,通过电话进行了临床随访。统计学分析采用卡方检验、独立t检验和方差分析。结果:共回顾了75例患者(55例女性)的资料。参与者的平均年龄为42.67岁。其中,嗜铬细胞瘤占60%,库欣综合征占22.7%,康氏综合征占14.7%,胰岛素瘤占1.3%。结论:手术入路和肿瘤病理对肾上腺切除术的预后有显著影响,尤其是囊膜的侵犯。需要更大规模的研究来确定肾上腺肿瘤切除术的临床和病理变量的预测价值。
{"title":"Clinical Outcomes and Predictive Factors in Adrenalectomy: A Retrospective Cohort Study.","authors":"Seyed Alireza Mirsharifi, Shirzad Nasiri, Seyed Mohammad Tavangar, Mohammadamin Parsaei","doi":"10.30699/ijp.2025.2052015.3407","DOIUrl":"10.30699/ijp.2025.2052015.3407","url":null,"abstract":"<p><strong>Background & objective: </strong>Adrenal tumors present a notable prevalence of 4-7% in individuals above 40 years old. Current guidelines recommend adrenalectomy for hormone-secreting, potentially malignant, or large (>4 cm) lesions. However, the outcomes of adrenalectomy and their clinical-pathological associations remain poorly defined. This study assessed adrenalectomy outcomes and explored its clinical, demographic, and pathologic correlates.</p><p><strong>Methods: </strong>In this retrospective cohort study, the medical records of all patients who underwent adrenalectomy from March 2016 to March 2021 at a referral center in Tehran were reviewed. Also, a clinical follow-up via telephone was conducted. The chi-square test, independent t-test, and analysis of variance were utilized for statistical analysis.</p><p><strong>Results: </strong>Data from a total of 75 patients (55 females) were reviewed. The mean age of the participants was 42.67 years. Of them, 60%, 22.7%, 14.7%, and 1.3% had pheochromocytoma, Cushing's syndrome, Conn's syndrome, and insulinoma, respectively. Malignancy was associated with greater tumor size (p<0.000) and mitotic rate (p=0.046), and the presence of necrosis (p=0.001), and capsular and vascular invasion (p<0.000). Clinical follow-up visits of 45 patients indicated 84.4% showed a complete response to the treatment (surgical ± medical). Treatment response was significantly influenced by approach (laparoscopic favored; p=0.001), surgery duration (<150 minutes better; p=0.017), mass pathology (adenoma favored; p=0.034), and capsular invasion (absence better; p=0.012).</p><p><strong>Conclusion: </strong>Adrenalectomy outcomes were significantly affected by surgical approach and tumor pathology, notably capsular invasion. Larger studies are needed to determine the predictive values of clinical and pathologic variables in adrenalectomy for adrenal tumors.</p>","PeriodicalId":38900,"journal":{"name":"Iranian Journal of Pathology","volume":"21 1","pages":"29-40"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12860231/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146107955","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}
引用次数: 0
Harnessing Tumor-Infiltrating Lymphocytes for Improved Cancer Outcomes. 利用肿瘤浸润淋巴细胞改善癌症预后。
Q3 Medicine Pub Date : 2026-01-01 Epub Date: 2025-11-11 DOI: 10.30699/ijp.2025.2068603.3502
Gunvanti Rathod, Pragnesh Parmar
{"title":"Harnessing Tumor-Infiltrating Lymphocytes for Improved Cancer Outcomes.","authors":"Gunvanti Rathod, Pragnesh Parmar","doi":"10.30699/ijp.2025.2068603.3502","DOIUrl":"10.30699/ijp.2025.2068603.3502","url":null,"abstract":"","PeriodicalId":38900,"journal":{"name":"Iranian Journal of Pathology","volume":"21 1","pages":"143-145"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12860233/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146108011","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}
引用次数: 0
Assessment of Urinary Ferritin as a Non-Invasive Diagnostic Test for Iron Deficiency Anemia in Pediatric Populations: A Case-Control Study. 评估尿铁蛋白作为儿童人群缺铁性贫血的无创诊断试验:一项病例对照研究。
Q3 Medicine Pub Date : 2026-01-01 Epub Date: 2025-11-12 DOI: 10.30699/ijp.2025.2049356.3395
Hossein Esfahani, Arya Derakhshesh, Ali Reza Soltanian, Hassan Bazmamoun, Alireza Rastgoo Haghi

Background & objective: Iron deficiency anemia is the most prevalent form of anemia worldwide and can cause complications in children and adolescents. This study investigates the correlation between serum and urinary ferritin and evaluates the feasibility of using urinary ferritin to diagnose iron deficiency.

Methods: In this case-control study, 45 patients with iron deficiency anemia were included in the case group and 45 healthy children in the control group. From each participant, 1.5 mL blood and 5 mL of urine were collected, and serum and urinary ferritin levels were measured using the chemiluminescent immunoassay (CLIA) method with Mindray kits. The results were analyzed and compared using SPSS software, version 16 (IBM Corp).

Results: The mean age of patients was 7.95 years, and that of controls was 7.26 years. Female patients constituted 62.2% of the case group, and female controls represented 46.7% of the control group. In patients, the mean serum ferritin level was 13.39 ng/mL (SD = 6.37), and the mean urinary ferritin level was 3.50 ng/mL (SD = 2.65). In controls, the mean serum ferritin level was 63.7 ng/mL (SD = 41.8), and the mean urinary ferritin level was 3.98 ng/mL (SD = 2.89). Urinary ferritin demonstrated lower diagnostic accuracy for iron deficiency anemia compared with serum ferritin. The Spearman correlation coefficient between serum and urinary ferritin was 0.155, indicating a weak positive correlation.

Conclusion: The findings of this study demonstrate an insignificant relationship between urine and serum ferritin levels. These findings indicate that urinary ferritin is not a reliable non-invasive alternative for diagnosing iron deficiency.

背景与目的:缺铁性贫血是世界上最常见的贫血形式,可引起儿童和青少年的并发症。本研究探讨血清铁蛋白与尿铁蛋白的相关性,探讨用尿铁蛋白诊断缺铁的可行性。方法:将45例缺铁性贫血患儿作为病例组,45例健康儿童作为对照组。每位参与者采集1.5 mL血液和5 mL尿液,采用化学发光免疫分析法(CLIA)和迈瑞试剂盒检测血清和尿铁蛋白水平。使用SPSS软件,version 16 (IBM Corp .)对结果进行分析和比较。结果:患者平均年龄7.95岁,对照组平均年龄7.26岁。女性患者占病例组的62.2%,女性对照组占对照组的46.7%。患者血清铁蛋白平均水平为13.39 ng/mL (SD = 6.37),尿铁蛋白平均水平为3.50 ng/mL (SD = 2.65)。对照组血清铁蛋白平均水平为63.7 ng/mL (SD = 41.8),尿铁蛋白平均水平为3.98 ng/mL (SD = 2.89)。与血清铁蛋白相比,尿铁蛋白对缺铁性贫血的诊断准确性较低。血清铁蛋白与尿铁蛋白的Spearman相关系数为0.155,呈弱正相关。结论:本研究结果表明尿铁蛋白水平与血清铁蛋白水平之间的关系不显著。这些发现表明尿铁蛋白不是诊断缺铁的可靠的非侵入性替代方法。
{"title":"Assessment of Urinary Ferritin as a Non-Invasive Diagnostic Test for Iron Deficiency Anemia in Pediatric Populations: A Case-Control Study.","authors":"Hossein Esfahani, Arya Derakhshesh, Ali Reza Soltanian, Hassan Bazmamoun, Alireza Rastgoo Haghi","doi":"10.30699/ijp.2025.2049356.3395","DOIUrl":"10.30699/ijp.2025.2049356.3395","url":null,"abstract":"<p><strong>Background & objective: </strong>Iron deficiency anemia is the most prevalent form of anemia worldwide and can cause complications in children and adolescents. This study investigates the correlation between serum and urinary ferritin and evaluates the feasibility of using urinary ferritin to diagnose iron deficiency.</p><p><strong>Methods: </strong>In this case-control study, 45 patients with iron deficiency anemia were included in the case group and 45 healthy children in the control group. From each participant, 1.5 mL blood and 5 mL of urine were collected, and serum and urinary ferritin levels were measured using the chemiluminescent immunoassay (CLIA) method with Mindray kits. The results were analyzed and compared using SPSS software, version 16 (IBM Corp).</p><p><strong>Results: </strong>The mean age of patients was 7.95 years, and that of controls was 7.26 years. Female patients constituted 62.2% of the case group, and female controls represented 46.7% of the control group. In patients, the mean serum ferritin level was 13.39 ng/mL (SD = 6.37), and the mean urinary ferritin level was 3.50 ng/mL (SD = 2.65). In controls, the mean serum ferritin level was 63.7 ng/mL (SD = 41.8), and the mean urinary ferritin level was 3.98 ng/mL (SD = 2.89). Urinary ferritin demonstrated lower diagnostic accuracy for iron deficiency anemia compared with serum ferritin. The Spearman correlation coefficient between serum and urinary ferritin was 0.155, indicating a weak positive correlation.</p><p><strong>Conclusion: </strong>The findings of this study demonstrate an insignificant relationship between urine and serum ferritin levels. These findings indicate that urinary ferritin is not a reliable non-invasive alternative for diagnosing iron deficiency.</p>","PeriodicalId":38900,"journal":{"name":"Iranian Journal of Pathology","volume":"21 1","pages":"41-46"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12863426/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146114545","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}
引用次数: 0
A Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type Iiib. 一个罕见的复合杂合NAGLU基因突变在两个兄弟姐妹粘多糖病Iiib型。
Q3 Medicine Pub Date : 2026-01-01 Epub Date: 2025-11-11 DOI: 10.30699/ijp.2025.2055938.3426
Laleh Vahedi-Larijani, Maryam Sotoudeh Anvari, Alireza Biglari, Maryam Nabati, Hosna Banihashemi, Marzie Mohammadi Kharkeshi

Background & objective: Mucopolysaccharidosis (MPS) type III, or Sanfilippo syndrome, is an autosomal recessive lysosomal storage disorder caused by mutations in genes encoding enzymes responsible for glycosaminoglycan (GAG) degradation. This case report describes two siblings with MPS type IIIB who exhibit a rare compound heterozygous mutation in the NAGLU gene.

Case presentation: A 7-year-old girl and her 4-year-old brother were referred for evaluation due to learning disabilities, aggressiveness, and coarse facial features. Enzyme assay using tandem mass spectrometry on dried blood spots in both siblings revealed absent N-acetyl-α-glucosaminidase activity.

Conclusion: Targeted sequencing confirmed the diagnosis, identifying two heterozygous mutations-an in-frame insertion and a missense mutation-in exon 3 of the NAGLU gene: c.214_237dup (p.Ala72_Gly79dup) and c.625A>C (p.Thr209Pro). This rare genetic finding in two siblings with Sanfilippo syndrome type B underscores the importance of precise mutation identification. Accurate characterization of defective gene variants may provide insights into potential targets for gene therapy in monogenic disorders.

背景与目的:粘多糖病(MPS) III型,或称Sanfilippo综合征,是一种常染色体隐性溶酶体贮积症,由编码糖胺聚糖(GAG)降解酶的基因突变引起。本病例报告描述了两个患有MPS IIIB型的兄弟姐妹,他们在NAGLU基因中表现出罕见的复合杂合突变。病例介绍:一个7岁的女孩和她4岁的弟弟因学习障碍、攻击性和粗糙的面部特征而被转介进行评估。用串联质谱法对兄弟姐妹的干血斑点进行酶分析,发现n -乙酰-α-氨基葡萄糖酶活性缺失。结论:靶向测序证实了诊断,鉴定出NAGLU基因外显子3的C .214_237dup (p.Ala72_Gly79dup)和C . 625a >C (p.Thr209Pro)两个杂合突变(帧内插入和错义突变)。这一罕见的遗传发现出现在患有B型圣菲利波综合征的两个兄弟姐妹身上,强调了精确突变鉴定的重要性。准确描述缺陷基因变异可能为单基因疾病的基因治疗提供潜在靶点。
{"title":"A Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type Iiib.","authors":"Laleh Vahedi-Larijani, Maryam Sotoudeh Anvari, Alireza Biglari, Maryam Nabati, Hosna Banihashemi, Marzie Mohammadi Kharkeshi","doi":"10.30699/ijp.2025.2055938.3426","DOIUrl":"10.30699/ijp.2025.2055938.3426","url":null,"abstract":"<p><strong>Background & objective: </strong>Mucopolysaccharidosis (MPS) type III, or Sanfilippo syndrome, is an autosomal recessive lysosomal storage disorder caused by mutations in genes encoding enzymes responsible for glycosaminoglycan (GAG) degradation. This case report describes two siblings with MPS type IIIB who exhibit a rare compound heterozygous mutation in the <i>NAGLU</i> gene.</p><p><strong>Case presentation: </strong>A 7-year-old girl and her 4-year-old brother were referred for evaluation due to learning disabilities, aggressiveness, and coarse facial features. Enzyme assay using tandem mass spectrometry on dried blood spots in both siblings revealed absent N-acetyl-α-glucosaminidase activity.</p><p><strong>Conclusion: </strong>Targeted sequencing confirmed the diagnosis, identifying two heterozygous mutations-an in-frame insertion and a missense mutation-in exon 3 of the <i>NAGLU</i> gene: c.214_237dup (p.Ala72_Gly79dup) and c.625A>C (p.Thr209Pro). This rare genetic finding in two siblings with Sanfilippo syndrome type B underscores the importance of precise mutation identification. Accurate characterization of defective gene variants may provide insights into potential targets for gene therapy in monogenic disorders.</p>","PeriodicalId":38900,"journal":{"name":"Iranian Journal of Pathology","volume":"21 1","pages":"128-135"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12860241/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146107931","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}
引用次数: 0
Evaluation of Serum CTRP-4 and CTRP-12 Levels in Hashimoto's Thyroiditis Patients: A Comparative Analysis with a Control Group and Their Correlation with Biochemical Factors. 桥本甲状腺炎患者血清CTRP-4、CTRP-12水平与对照组的比较分析及其与生化因素的相关性
Q3 Medicine Pub Date : 2025-01-01 Epub Date: 2025-01-10 DOI: 10.30699/ijp.2024.2025001.3276
Doaa Jawad Al-Husseini, Mohsen Saravani, Shahin Nosratzehi, Hamideh Akbari, Afsaneh Shafiei, Seyyed Mehdi Jafari

Background & objective: Hashimoto's thyroiditis (HT) is one of the most common thyroid disorders and is characterized by manifestations attributed to thyroid gland damage and inflammatory conditions. Disturbances in thyroid hormones have physiological effects on lipoprotein metabolism and liver enzymes. CTRP family: C1q/TNF-related protein (CTRP) is an adipokine superfamily of proteins. Its essential role is anti-inflammatory activation, insulin sensitization, and regulation of blood lipids. In this study, we investigated the levels of CTRP-4 and CTRP-12 in the serum of HT patients and determined their association with biochemical factors.

Methods: The study included 60 participants, divided into HT patients and control groups. Diagnostic criteria for HT patients included anti-thyroid peroxidase antibodies (anti-TPO)>50 IU/mL. Serum levels of CTRP-4, CTRP-12, and anti-TPO were measured using an Enzyme-Linked Immunosorbent Assay.

Results: Our findings showed that the CTRP-4 and CTRP-12 levels in HT patients were higher than in the control groups (P=0.012 and P=0.003, respectively). HT patients also exhibited higher fasting blood glucose (FBG), cholesterol, TG, HDL, and LDL serum levels. Spearman's correlation analysis revealed a positive association between serum levels of CTRP-4 and CTRP-12 and anti-TPO (respectively, r= 0.295, P=0.022 and r = 0.346, P=0.007).

Conclusion: Our findings showed that the CTRP-4 and CTRP-12 levels in HT patients were higher than those in the control groups. These factors probably play a role in the pathogenesis of Hashimoto's thyroiditis. The clinical significance of these factors should be evaluated in future studies.

背景与目的:桥本甲状腺炎(Hashimoto’s thyroiditis, HT)是最常见的甲状腺疾病之一,其特点是甲状腺损伤和炎症。甲状腺激素紊乱对脂蛋白代谢和肝酶有生理影响。CTRP家族:C1q/ tnf相关蛋白(CTRP)是一个脂肪因子超家族蛋白。它的基本作用是抗炎激活、胰岛素增敏和调节血脂。本研究探讨了HT患者血清中CTRP-4和CTRP-12的水平,并确定其与生化因素的关系。方法:研究对象60例,分为HT患者组和对照组。HT患者的诊断标准包括抗甲状腺过氧化物酶抗体(anti-TPO)>50 IU/mL。采用酶联免疫吸附法测定血清CTRP-4、CTRP-12和抗tpo水平。结果:我们的研究结果显示,HT患者的CTRP-4和CTRP-12水平高于对照组(P=0.012和P=0.003)。HT患者还表现出更高的空腹血糖(FBG)、胆固醇、TG、HDL和LDL血清水平。Spearman相关分析显示血清CTRP-4、CTRP-12水平与抗tpo呈正相关(r = 0.295, P=0.022, r= 0.346, P=0.007)。结论:HT患者的CTRP-4和CTRP-12水平明显高于对照组。这些因素可能在桥本甲状腺炎的发病机制中起作用。这些因素的临床意义应在今后的研究中加以评价。
{"title":"Evaluation of Serum CTRP-4 and CTRP-12 Levels in Hashimoto's Thyroiditis Patients: A Comparative Analysis with a Control Group and Their Correlation with Biochemical Factors.","authors":"Doaa Jawad Al-Husseini, Mohsen Saravani, Shahin Nosratzehi, Hamideh Akbari, Afsaneh Shafiei, Seyyed Mehdi Jafari","doi":"10.30699/ijp.2024.2025001.3276","DOIUrl":"10.30699/ijp.2024.2025001.3276","url":null,"abstract":"<p><strong>Background & objective: </strong>Hashimoto's thyroiditis (HT) is one of the most common thyroid disorders and is characterized by manifestations attributed to thyroid gland damage and inflammatory conditions. Disturbances in thyroid hormones have physiological effects on lipoprotein metabolism and liver enzymes. CTRP family: C1q/TNF-related protein (CTRP) is an adipokine superfamily of proteins. Its essential role is anti-inflammatory activation, insulin sensitization, and regulation of blood lipids. In this study, we investigated the levels of CTRP-4 and CTRP-12 in the serum of HT patients and determined their association with biochemical factors.</p><p><strong>Methods: </strong>The study included 60 participants, divided into HT patients and control groups. Diagnostic criteria for HT patients included anti-thyroid peroxidase antibodies (anti-TPO)>50 IU/mL. Serum levels of CTRP-4, CTRP-12, and anti-TPO were measured using an Enzyme-Linked Immunosorbent Assay.</p><p><strong>Results: </strong>Our findings showed that the CTRP-4 and CTRP-12 levels in HT patients were higher than in the control groups (P=0.012 and P=0.003, respectively). HT patients also exhibited higher fasting blood glucose (FBG), cholesterol, TG, HDL, and LDL serum levels. Spearman's correlation analysis revealed a positive association between serum levels of CTRP-4 and CTRP-12 and anti-TPO (respectively, r= 0.295, <i>P</i>=0.022 and r = 0.346, <i>P</i>=0.007).</p><p><strong>Conclusion: </strong>Our findings showed that the CTRP-4 and CTRP-12 levels in HT patients were higher than those in the control groups. These factors probably play a role in the pathogenesis of Hashimoto's thyroiditis. The clinical significance of these factors should be evaluated in future studies.</p>","PeriodicalId":38900,"journal":{"name":"Iranian Journal of Pathology","volume":"20 1","pages":"42-48"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11887634/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587387","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}
引用次数: 0
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Iranian Journal of Pathology
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