Gulen Akyol

Transaldolase deficiency is a rare autosomal recessive disease caused by biallelic mutations in the TALDO1 gene. This disorder is characterized by multisystem involvement, including liver disease. Here, we present 2 siblings with transaldolase deficiency and a novel homozygous mutation in the TALDO1 gene. The index case was presented with hepatosplenomegaly and elevated transaminases in infancy. The 11-year-old sibling, who was diagnosed through family screening, also had chronic liver disease with fibrotic changes, despite initially normal liver function tests. Both patients exhibited additional findings, including dysmorphic facial features, hypergonadotropic hypogonadism, proteinuria, and skeletal anomalies such as scoliosis. Liver biopsies revealed periportal and bridging fibrosis without necroinflammatory activity or malignant transformation. In the second case, a 6 mm T2-hyperintense nodular lesion detected on MRI prompted close monitoring for hepatocellular carcinoma. This report highlights the phenotypic variability of TALDO deficiency, the potential for progressive liver damage in asymptomatic patients, and the importance of liver biopsy and imaging in surveillance. Early diagnosis using genetic testing and family screening facilitates the timely management of complications. Given the multisystem nature of the disorder, multidisciplinary follow-up is essential.

Background/Aims: The International Autoimmune Hepatitis (AIH) Group recommends the new histological criteria (HC) (2022) and modified immunoserological testing for diagnosing AIH. The diagnostic utility of the 2022 HC was evaluated. The simplified criteria were also updated with the 2022 HC and immunoserological testing and assessed the diagnostic performance. Materials and Methods: The data of 207 patients (111 AIH, 33 primary biliary cholangitis, 35 drug-induced liver injury, and 28 metabolic dysfunction–associated fatty liver disease) were evaluated. Results: The 2022 HC and the 2008 simplified HC showed 95% vs. 88% sensitivity and 82% vs. 49% specificity for possible/compatible AIH. For likely/typical AIH, sensitivity was 60% vs. 42% and specificity was 98% vs. 95% for the 2022 HC and the 2008 HC, respectively. The area under the curve (AUC) was better for the 2022 HC than for the 2008 simplified HC (0.932 vs. 0.771, P < .001). The updated simplified criteria had a sensitivity comparable with the simplified criteria (88% vs. 87%) but a better specificity (94% vs. 80%) for prob able AIH. The sensitivity was slightly lower (57% vs. 63%), but the specificity was greater (97% vs. 89%) for definitive AIH. The AUC was higher in the updated simplified criteria than in the simplified criteria (0.959 vs. 0.894, P = .016). Conclusion: The 2022 HC showed better sensitivity and specificity than the 2008 simplified HC for AIH. The updated simplified criteria worked well with improved accuracy of AIH diagnosis. Our results suggest that the diagnostic algorithm of AIH should be modified based on recent recommendations. Cite this article as: Moral K, Efe C, Sert A, et al. Evaluation of histological criteria and immunoserological testing of simplified criteria for the diagnosis of autoimmune hepatitis. Turk J Gastroenterol. Published online September 18, 2025. doi: 10.5152/ tjg.2025.25402.

Background and Aim: The histological diagnosis of autoimmune hepatitis (AIH) is challenging. A new consensus recommendation was provided by the International AIH Pathology Group to address the problems in the histological diagnosis. The purpose of this study is to compare the 2008 ‘simplified’ criteria for AIH with the ‘consensus recommendation’ of 2022 in terms of diagnostic sensitivity. Materials and Methods: A retrospective analysis was conducted on pathological specimens of patients diagnosed with Autoimmune Hepatitis (AIH) between 2010 and 2022. Out of 188 patients enlisted, 88 were selected based on exclusion criteria. The specimens were examined by two experienced hepatopathologists and a resident pathologist. All specimens were analyzed using both the “simplified” criteria and the new consensus recommendations. Results: Out of a total of 78 patients, the 2022 consensus recommendations raised the diagnostic category of 16 patients (20.5%) to a higher level. Six patients who were previously diagnosed as “atypical” were now considered “possible AIH”, while 10 patients with a “compatible” diagnosis were elevated to “likely AIH” category. No patients were found to fall into a lower diagnostic category according to the new recommendations. A significant difference in diagnostic sensitivity was observed between the 2008 criteria and the 2022 consensus report (p

Autoimmune hepatitis (AIH) is a rare, immune-mediated liver disease. It has a heterogeneous nature with varied clinical presentations. The management of patients with AIH is challenging in many ways. The main difficulties are inexperience due to the rarity of the disease, diagnostic confusion in controversial areas such as variant/overlap cases, acute presentations, the presence of non-alcoholic fatty liver disease or drug-induced liver injury features, and the long and complex course of treatment. Here, we provide a clear, concise, and visualized review regarding the diagnosis and treatment of AIH, including illustrative cases.

Regular follow-up of patients with lung cancer treated surgically is crucial to detect local recurrence or distant metastasis of the tumor. Postoperative follow-ups are performed with thorax computed tomography (CT) and, if necessary, positron emission tomography (PET)/CT. Sometimes, inflammatory tissue reactions due to the materials used during the surgery for hemostasis may cause the appearance of tumor recurrence in imaging modalities. In this study, we presented that oxidized regenerated cellulose (ORC) used intraoperatively may cause false tumor recurrence on PET/CT. The records of patients who had local tumor recurrence after lung cancer surgery was reviewed retrospectively. Inclusion criteria were the presence of local recurrence of cancer on PET/CT, specification of using ORC in the surgical notes, and histopathological diagnosis of the recurrence site of tumor was reported as a foreign body reaction. Data of patients were collected according to age, gender, surgery performed, adjuvant therapy status, resolution status and time ORC, and standard uptake value of ¹⁸F-fluorodeoxyglucose on PET/CT. Eleven patients (1 female, 10 males) who met the criteria were included in the study. The median age was 64. Histopathological results of all patients were reported as foreign body reactions. The median detection time of PET/CT positivity after surgery was 139 days (range: 52-208 days). False tumor recurrence was resolved in 8 patients (72.7%) in their control radiological examinations and median resolution time was 334 days (range: 222-762 days). The median maximum standard uptake value of the lesions was 6.2 (1.7-11) on the PET/CT. ORC used intraoperatively in patients undergoing surgery for lung cancer may cause false tumor recurrence in imaging modalities in postsurgical follow-ups. When tumor recurrence is suspected in the follow-up of these patients, histopathological confirmation is necessary to prevent unnecessary operations and treatments.

Objectives: Breast cancer is the most common cancer and the most common reason for cancer death in women population. The immunohistochemical markers which could have prognostic information are always needed.Methods: This study included 365 cases of invasive ductal carcinoma (IDC), ductal carcinoma in situ (DCIS) and ductal epithelial hyperplasia. The cases divided into the following two groups according to the presence of cancer: 1) cancer group (298 cases; cases with IDC and DCIS), 2) non-cancer group (67 cases without cancer; cases with usual ductal epithelial hyperplasia [UDH] and atypical ductal epithelial hyperplasia [ADH]). All histological slides stained with high molecular weight cytokeratin (HMWCK), p27, C-X-C chemokine receptor type 4 (CXCR-4), stromal cell-derived factor 1 (SDF-1) immunohistochemically.Results: IDC was present in 277 cases, of which 213 had pure IDC, and 64 had DCIS component adjacent to the invasive tumor. Twenty-one cases had only DCIS. Of 67 cases with epithelial hyperplasia, 31 had ADH, and 36 had UDH. Among cases with IDC, 143 had lymph node excision, of which 73 had metastasis in one or more lymph nodes, and 70 did not have metastatic disease. The expression of p27 was found to be significantly lower in the cancer group as compared to that in the non-cancer group (p < 0.0001). CXCR-4 expression in IDC was found to be higher than that of DCIS group. SDF-1 expression was observed to be significantly higher in cancer cases than that of non-cancer cases (p = 0.03). Conclusions: The higher CXCR-4 and SDF-1 expressions are associated with tumor progression, tumor size, and lymph node status. In benign proliferative lesions, both HMWK and p27 expressions were helpful in differential diagnosis of borderline atypical ductal hyperplasia and DCIS.