Recep Tayyip Erdoğan Üniversitesi Kurumsal Akademik Arşivi
DSpace@RTEÜ, Recep Tayyip Erdoğan Üniversitesi tarafından doğrudan ve dolaylı olarak yayınlanan; kitap, makale, tez, bildiri, rapor, araştırma verisi gibi tüm akademik kaynakları uluslararası standartlarda dijital ortamda depolar, Üniversitenin akademik performansını izlemeye aracılık eder, kaynakları uzun süreli saklar ve yayınların etkisini artırmak için telif haklarına uygun olarak Açık Erişime sunar.
Güncel Gönderiler
Homozygous GBA1 p.T82I variant in type 1 Gaucher disease: clinical and biochemical characterization
(Future Medicin, 2025) Genç, Selin; Mercantepe, Filiz; Bayram, Fahri
ackground: Gaucher disease (GD) is the most common lysosomal storage disorder caused by biallelic pathogenic variants in GBA1, resulting in deficient β-glucocerebrosidase activity. Clinical characterization of rare GBA1 variants is crucial for understanding disease heterogeneity. We report an extremely rare GBA1 variant previously catalogued at the sequence level in HGMD and UniProtKB, and recently listed in ClinVar without a clinical significance assertion, but lacking phenotypic data.
Case presentation: A 23-year-old male presented with fatigue, chills, shivering, and diffuse bone pain. Physical examination revealed hepatosplenomegaly, and laboratory tests showed moderate thrombocytopenia. Leukocyte β-glucocerebrosidase activity was markedly reduced (0.90 nmol/mg/h), and plasma Lyso-Gb1 was highly elevated (431.3 ng/mL; reference <14.0 ng/mL). DXA (Dual-energy X-ray Absorptiometry) demonstrated osteopenia (lumbar spine Z-score: -2.3). Genetic analysis identified a homozygous GBA1 NM_000157.4:c.245C>T (p.Thr82Ile; rs1141811) variant. Family screening showed heterozygosity in both parents and one sibling.
Conclusion: This report provides the first comprehensive clinical characterization of the rare GBA1 p.Thr82Ile variant, expanding the phenotypic spectrum of Type 1 GD.
Fibrotic MASH resolutionVCTE index to diagnose fibrotic MASH resolution and predict LREs: A global multicenter study
(Cell Press, 2025) Feng, Gong; Boursier, Jerome; Loup, Marc de Saint; Yılmaz, Yusuf; Takahashi, Hirokazu; Isoda, Hiroshi; VCTE-Prognosis Study Group; Paired Liver Biopsy Group
Background: Non-invasive assessment of improvement in fibrotic metabolic dysfunction-associated steatohepatitis (MASH) is an important clinical problem. We aimed to develop and validate the fibrotic MASH resolutionVCTE index, a non-invasive tool for identifying fibrotic MASH resolution and predicting liver-related events (LREs).
Methods: We collected data from 2,017 individuals who had two liver biopsies, separated in time, across 40 centers in the first dataset. This dataset included two independent cohorts, which were used to develop and externally validate the tool (including the baseline and change in acFibroMASH index plus change in serum alanine aminotransferase levels). The second independent dataset, comprising 17,949 patients who underwent vibration-controlled transient elastography (VCTE) at 16 centers, was used to examine associations between the developed index and the risk of incident LREs.
Findings: After application of the inclusion and exclusion criteria, 252 and 8,752 patients were included in the first and second datasets, respectively. The fibrotic MASH resolutionVCTE index accurately identified fibrotic MASH resolution with an area under the receiver operating curve (AUROC) of 0.82 (95% CI 0.74-0.90) in the derivation cohort and 0.80 (95% CI 0.72-0.88) in the validation cohort. Patients with a fibrotic MASH resolutionVCTE index >0.61 had a substantially lower risk of incident LREs than those with an index <0.24 (adjusted-hazard ratio 0.043). The index achieved AUROCs of 0.86 and 0.87, respectively, for predicting the 5- and 10-year probability of not developing LREs.
Conclusions: This global multicenter study suggests that the fibrotic MASH resolutionVCTE index may offer a non-invasive approach to estimate fibrotic MASH resolution and stratify long-term risk of LREs.
Funding: National Natural Science Foundation.
Union for international cancer control 9th edition TNM classification for head and neck malignancies: what is new?
(AVES, 2025) Bayram, Ali; Erdivanlı, Özlem Çelebi; Society for Head and Neck Surgery Scientific Group
The 9th edition of the Union for International Cancer Control (UICC) tumor-nodemetastasis (TNM) classification of malignant tumors implements substantial, evidencebased revisions to the staging protocols for head and neck malignancies. Driven by the
expanding evidence base and the imperative for refined prognostic stratification, these
modifications ultimately aim to enhance the accuracy and clinical utility of the staging
system within this complex anatomical region
Off-label stent as a rescue option for angulated proximal internal carotid artery stenosis in technically unfeasible or inoperable patients
(Springer, 2025) Özdemir, Gökhan; Eren, Fettah; Ersoy, Ayşe Nur; Doğruer, Asena Begüm; Gültekin, Muhammet Mustafa; Gündoğdu, Ömer Lütfi; Demirbaş, Hayri
Purpose: To evaluate the feasibility, safety, and short-term outcomes of off-label stent use for extracranial internal carotid artery (ICA) revascularization in anatomically challenging patients.
Methods: We conducted a retrospective multicenter cohort study including all consecutive patients treated for extracranial internal carotid artery stenosis between 2017 and 2025 across several high-volume stroke centers. Patients underwent one of three revascularization strategies: carotid endarterectomy (CEA), conventional carotid artery stenting (CAS), or off-label intracranial stent deployment in patients where severe tortuosity, high-cervical anatomy, sharply angulated bulbs, or unfavorable access rendered CEA and standard CAS technically unfeasible. Clinical presentation, angiographic severity, technical success, 30 day mortality, restenosis ≥ 50% at 3 months, and functional outcome (modified Rankin Scale (mRS) ≤ 2) were recorded. Three-group comparisons were performed using ANOVA/Kruskal-Wallis and chi-square/Fisher's exact tests. Given the small, anatomically preselected off-label cohort and low event numbers, neither propensity score matching nor multivariable regression was feasible. Statistical significance was set at p < 0.05.
Results: A total of 1,522 patients underwent carotid revascularization (48 ACCLINO® stent, 1,274 CAS, 200 CEA). At baseline, pre-procedural near-occlusion or complete occlusion was significantly more common in the off-label group (68.8% [33/48]) compared with CAS (25.5% [325/1274]) and CEA (23.0% [46/200]) (p < 0.001). Symptomatic presentation was also highest in the off-label cohort (100% [48/48]) versus CAS (75.6% [963/1274]) and CEA (81.5% [163/200]) (p < 0.001). Acute ischemic stroke occurred in 25.0% (12/48), 7.8% (99/1274), and 6.0% (12/200) respectively (p < 0.001). Technical success was achieved in all off-label and CEA procedures and in 99.4% of CAS (p = 0.41). Thirty-day mortality did not differ significantly (6.3% vs. 2.7% vs. 3.0%; p = 0.17). At 3 months, restenosis ≥ 50% was comparable across groups (4.2% vs. 5.3% vs. 5.5%; p = 0.78). Functional independence (mRS ≤ 2) improved from 31.3 to 100% in the off-label cohort (p < 0.001), compared with 87.2% → 96.5% in CAS and 82.0% → 94.0% in CEA (all p < 0.001).
Conclusions: Off-label stenting may offer high technical feasibility, acceptable vessel patency, and meaningful functional recovery in patients with complex, surgically challenging proksimal ICA stenosis, suggesting that it could serve as a potential rescue option in carefully selected anatomically difficult patients.
Emergency bronchial artery embolization using n-2-butyl-cyanoacrylate: a safe and effective solution for massive hemoptysis
(BioMed Central, 2025) Beyazal, Mehmet; Solak, Merve
Rationale and objectives: Massive hemoptysis is a serious respiratory emergency. In most cases, the bleeding source is the bronchial circulation, and bronchial artery embolization (BAE) is considered the primary approach for treating massive hemoptysis. However, there is no standardized protocol regarding embolic agents. The aim of this study is to evaluate the efficacy and safety of BAE performed with n-butyl-2-cyanoacrylate (NBCA) in the treatment of massive hemoptysis.
Materials and methods: This single-center, retrospective study included patients who underwent BAE with NBCA for massive hemoptysis between January 2021 and December 2024. Demographic data and etiological factors were documented. BAE procedural details were thoroughly analyzed and recorded. Postprocedural complications, technical success, and clinical success rates (within 24 h and 1 month) were evaluated. Recurrence rates beyond 1 month were assessed.
Results: The study included 41 patients (33 male, 8 female). The most frequently identified etiologies were tuberculosis (28.5%), bronchiectasis (20%). The mean 24-hour hemoptysis volume was 535 ± 448.2 mL (range: 240-1200 mL). The most common DSA findings were bronchial artery hypertrophy/tortuosity (78.2%), hypervascularization (67.4%). BAE procedures most frequently targeted the right bronchial artery (57.14%). Embolization involved a single vessel in 75% of cases, two vessels in 17.5%, and three vessels in 7.5%. The mean NBCA/Lipiodol volume per vessel was 1.625 ± 0.66 mL (range: 0.5-2 mL). Technical success was achieved in 97.14% of cases. Clinical success rates were 100% within 24 h and 97.5% at 1-month follow-up. Over a median follow-up period of 13 months, no recurrence requiring repeat embolization was observed.
Conclusion: Our study demonstrates that BAE using NBCA/Lipiodol is an effective and safe method for treating massive hemoptysis, with high technical and clinical success rates. When carefully administered by experienced specialists, NBCA/Lipiodol may be considered as a potential primary embolic agent for BAE.
