Balkan Medical Journal最新文献

筛选
英文 中文
Severe Fever with Thrombocytopenia Syndrome in a 1-Year-Old Boy: A Rarely Reported Case with Coxiella burnetii Co‑Infection. 1岁男孩发热伴血小板减少综合征:一例罕见的伯纳氏杆菌感染病例。
IF 4.5 4区 医学
Balkan Medical Journal Pub Date : 2026-10-01 Epub Date: 2026-09-11 DOI: 10.4274/balkanmedj.galenos.2026.2026-7-20
Long Gao, Xiaohan Liu, Lingling He, Jiabin Li, Yufeng Gao
{"title":"Severe Fever with Thrombocytopenia Syndrome in a 1-Year-Old Boy: A Rarely Reported Case with <i>Coxiella burnetii</i> Co‑Infection.","authors":"Long Gao, Xiaohan Liu, Lingling He, Jiabin Li, Yufeng Gao","doi":"10.4274/balkanmedj.galenos.2026.2026-7-20","DOIUrl":"10.4274/balkanmedj.galenos.2026.2026-7-20","url":null,"abstract":"","PeriodicalId":8690,"journal":{"name":"Balkan Medical Journal","volume":" ","pages":"594-598"},"PeriodicalIF":4.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13635655/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148928965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Does Methadone Affect TERT Expression and Telomere Length? 美沙酮是否影响TERT表达和端粒长度?
IF 4.5 4区 医学
Balkan Medical Journal Pub Date : 2026-10-01 Epub Date: 2026-08-31 DOI: 10.4274/balkanmedj.galenos.2026.2026-7-2
Nafiseh Omidpanah, Mostafa Saadat
{"title":"Does Methadone Affect <i>TERT</i> Expression and Telomere Length?","authors":"Nafiseh Omidpanah, Mostafa Saadat","doi":"10.4274/balkanmedj.galenos.2026.2026-7-2","DOIUrl":"10.4274/balkanmedj.galenos.2026.2026-7-2","url":null,"abstract":"","PeriodicalId":8690,"journal":{"name":"Balkan Medical Journal","volume":" ","pages":"599-600"},"PeriodicalIF":4.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13635654/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148863497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
HUCMSCs-Derived Exosomes Attenuate Keloid Fibroblast Pathological Phenotypes with Associated Metabolic-Redox-Matrix Network Remodeling: A Proteomic and In Vivo Study. hucmscs衍生的外显体减弱瘢痕疙瘩成纤维细胞病理表型与相关的代谢-氧化还原-基质网络重塑:蛋白质组学和体内研究。
IF 4.5 4区 医学
Balkan Medical Journal Pub Date : 2026-10-01 DOI: 10.4274/balkanmedj.galenos.2026.2026-5-27
Zimiao Chen, Lina Lu, Qin Liu, Xiaosong Chen
{"title":"HUCMSCs-Derived Exosomes Attenuate Keloid Fibroblast Pathological Phenotypes with Associated Metabolic-Redox-Matrix Network Remodeling: A Proteomic and <i>In Vivo</i> Study.","authors":"Zimiao Chen, Lina Lu, Qin Liu, Xiaosong Chen","doi":"10.4274/balkanmedj.galenos.2026.2026-5-27","DOIUrl":"10.4274/balkanmedj.galenos.2026.2026-5-27","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Human umbilical cord mesenchymal stem cell-derived exosomes (HUCMSCs-Exo) have emerged as investigational cell-free candidates for the treatment of fibrotic diseases.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Aims: &lt;/strong&gt;To examine the phenotypic effects of HUCMSCs-Exo on keloid fibroblasts (KFs) &lt;i&gt;in vitro&lt;/i&gt;, characterize associated proteomic, hub-protein, and redox-mitochondrial changes, and evaluate their &lt;i&gt;in vivo&lt;/i&gt; effects using a nude mouse xenograft model.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design: &lt;/strong&gt;&lt;i&gt;In vitro&lt;/i&gt; and &lt;i&gt;in vivo&lt;/i&gt; study.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;HUCMSCs-Exo were isolated by differential ultracentrifugation and characterized using transmission electron microscopy, nanoparticle tracking analysis, and Western blotting for CD9, CD63, and CD81. Label-free quantitative proteomics, Gene Ontology and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses, and protein-protein interaction (PPI) network analysis were performed. Western blot validation, DCFH-DA, JC-1, and MitoSOX assays, and peritumoral administration of HUCMSCs-Exo &lt;i&gt;in vivo&lt;/i&gt;, together with biosafety evaluations based on hematology, serum biochemistry, and organ histopathology, were performed.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;PKH67-labeled exosomes were internalized by KFs in a time-dependent manner. &lt;i&gt;In vitro&lt;/i&gt;, HUCMSCs-Exo inhibited KF proliferation in a dose- and time-dependent manner, induced apoptosis, caused cell-cycle arrest at the G0/G1 phase, and suppressed migration. The expression of fibrosis-associated markers, including fibronectin (FN1), alpha-smooth muscle actin (α-SMA), collagen type I (COL-I), and collagen type III (COL-III), was downregulated at both the mRNA and protein levels. Label-free quantitative proteomics identified 951 differentially expressed proteins. KEGG enrichment analysis demonstrated enrichment in metabolic pathways, carbon metabolism, and glycolysis/gluconeogenesis. PPI network analysis identified seven candidates hub proteins, of which APEX1, MMP2, and HMOX1 remained significant after Benjamini-Hochberg correction; the other four candidates, including TGFB1, did not survive correction. Therefore, the matrix- and TGF-beta-related findings are supported by orthogonal validation rather than by the corrected proteomic screen alone. Western blot validation demonstrated reduced abundance of TGFB1, MMP2, TIMP1, and TXN2 and increased abundance of APEX1 after HUCMSCs-Exo treatment. The DCFH-DA, JC-1, and MitoSOX assays indicated reduced intracellular reactive oxygen species levels, preservation of mitochondrial membrane potential, and reduced mitochondrial superoxide signals. &lt;i&gt;In vivo&lt;/i&gt;, peritumoral administration of HUCMSCs-Exo suppressed keloid xenograft growth and was accompanied by reduced collagen deposition and lower expression of FN1, α-SMA, COL-I, and COL-III. Biosafety evaluation revealed no detectable abnormalities in hematology, serum biochemistry, or organ histopathology under the conditio","PeriodicalId":8690,"journal":{"name":"Balkan Medical Journal","volume":" ","pages":""},"PeriodicalIF":4.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149103417","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
Nodular Fatty Deposition of the Liver Mimicking Hepatic Metastases. 模拟肝转移的肝脏结节性脂肪沉积。
IF 4.5 4区 医学
Balkan Medical Journal Pub Date : 2026-10-01 DOI: 10.4274/balkanmedj.galenos.2026.2026-7-8
Feng Pan, Anqi Li
{"title":"Nodular Fatty Deposition of the Liver Mimicking Hepatic Metastases.","authors":"Feng Pan, Anqi Li","doi":"10.4274/balkanmedj.galenos.2026.2026-7-8","DOIUrl":"https://doi.org/10.4274/balkanmedj.galenos.2026.2026-7-8","url":null,"abstract":"","PeriodicalId":8690,"journal":{"name":"Balkan Medical Journal","volume":"43 10","pages":"588-590"},"PeriodicalIF":4.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13635653/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149103501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Image-Guided Thyroid Ablation versus Surgery for T1N0M0 Papillary Thyroid Carcinoma: A Consensus-Aligned Systematic Review and Meta-Analysis. 影像引导甲状腺消融与手术治疗T1N0M0乳头状甲状腺癌:一致的系统评价和荟萃分析
IF 4.5 4区 医学
Balkan Medical Journal Pub Date : 2026-10-01 Epub Date: 2026-08-26 DOI: 10.4274/balkanmedj.galenos.2026.2026-3-104
Mustafa Şahin, Atilla Halil Elhan, Giovanni Mauri
{"title":"Image-Guided Thyroid Ablation versus Surgery for T1N0M0 Papillary Thyroid Carcinoma: A Consensus-Aligned Systematic Review and Meta-Analysis.","authors":"Mustafa Şahin, Atilla Halil Elhan, Giovanni Mauri","doi":"10.4274/balkanmedj.galenos.2026.2026-3-104","DOIUrl":"10.4274/balkanmedj.galenos.2026.2026-3-104","url":null,"abstract":"<p><p>Image-guided thyroid ablation (IGTA), including radiofrequency ablation, microwave ablation, and laser ablation, has emerged as a minimally invasive, organ-sparing treatment strategy for carefully selected patients with low-risk papillary thyroid carcinoma (PTC) and selected patients with recurrent differentiated thyroid carcinoma (DTC). Although accumulating evidence supports favorable local tumor control and low procedure-related morbidity, comparative oncologic and safety outcomes relative to surgery require standardized synthesis using internationally accepted IGTA terminology and reporting criteria. This study aimed to compare IGTA with surgery for T1N0M0 PTC using consensus-aligned terminology, efficacy definitions, and complication reporting. Evidence regarding recurrent DTC is summarized only as contextual clinical background rather than as the primary focus of the meta-analysis. A systematic review and meta-analysis comparing IGTA with surgery for T1N0M0 PTC was conducted using the PubMed, Scopus, and Web of Science databases through June 2026. Outcome definitions, volume-related efficacy measures, and complication categories were aligned with the international consensus statement on IGTA and the PRISMA reporting recommendations. The meta-analysis showed that the odds of overall complications were significantly higher after surgery than after ablation [odds ratio (OR) = 2.75, 95% confidence interval (CI) 1.79-4.22]. No significant between-group differences were observed in tumor progression (OR = 0.81), lymph node metastasis (OR = 0.99), or overall hoarseness (OR = 1.20). However, surgery was associated with significantly lower odds of recurrence (OR = 0.64, 95% CI 0.42-0.97) but higher odds of permanent hoarseness (OR = 2.24) and transient hypoparathyroidism (OR = 5.67). In patients with recurrent DTC, ablation provided significant clinical benefits, including marked reductions in lesion volume and serum thyroglobulin levels. IGTA is a promising, minimally invasive, organ-sparing treatment option for selected patients with T1N0M0 PTC. In the present analysis, surgery was associated with lower odds of recurrence, whereas IGTA was associated with lower procedure-related morbidity, particularly lower rates of overall complications, permanent hoarseness, and transient hypoparathyroidism. Therefore, IGTA should be considered within a multidisciplinary, patient-centered decision-making framework rather than as a universal replacement for surgery. Longer-term prospective comparative studies and standardized registries are needed to determine long-term oncologic equivalence.</p>","PeriodicalId":8690,"journal":{"name":"Balkan Medical Journal","volume":" ","pages":"546-553"},"PeriodicalIF":4.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13635649/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148817253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Epiglottic Lesions as the Initial and Primary Presentation of Pemphigus Vulgaris. 会厌病变是寻常型天疱疮的初始和原发性表现。
IF 4.5 4区 医学
Balkan Medical Journal Pub Date : 2026-10-01 Epub Date: 2026-08-24 DOI: 10.4274/balkanmedj.galenos.2026.2026-7-14
Qingli Yu, Juanjuan Hu, Yijun Dong, Wei Mo, Hui Yang
{"title":"Epiglottic Lesions as the Initial and Primary Presentation of Pemphigus Vulgaris.","authors":"Qingli Yu, Juanjuan Hu, Yijun Dong, Wei Mo, Hui Yang","doi":"10.4274/balkanmedj.galenos.2026.2026-7-14","DOIUrl":"10.4274/balkanmedj.galenos.2026.2026-7-14","url":null,"abstract":"","PeriodicalId":8690,"journal":{"name":"Balkan Medical Journal","volume":" ","pages":"586-587"},"PeriodicalIF":4.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13635643/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148808264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Patient Perceptions Across a Fixed Sequence of Physician Attire and Surgical-Context Images in Urology: An Image-Based Cross-Sectional Survey. 在泌尿外科医生服装和手术背景图像的固定序列的患者感知:基于图像的横断面调查。
IF 4.5 4区 医学
Balkan Medical Journal Pub Date : 2026-10-01 Epub Date: 2026-09-02 DOI: 10.4274/balkanmedj.galenos.2026.2026-7-15
Engin Denizhan Demirkıran, Massimo Menozzi, Giovanalberto Pini, Giorgio Bozzini, Davide Perri
{"title":"Patient Perceptions Across a Fixed Sequence of Physician Attire and Surgical-Context Images in Urology: An Image-Based Cross-Sectional Survey.","authors":"Engin Denizhan Demirkıran, Massimo Menozzi, Giovanalberto Pini, Giorgio Bozzini, Davide Perri","doi":"10.4274/balkanmedj.galenos.2026.2026-7-15","DOIUrl":"10.4274/balkanmedj.galenos.2026.2026-7-15","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Physician attire is associated with patient trust and confidence, yet it has rarely been examined in urology or in the surgical context in which the physician is seen.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Aim: &lt;/strong&gt;To examine how physician attire and the displayed surgical context are associated with patients' initial perceptions of urologists using standardized, artificial intelligence (AI)-generated images.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design: &lt;/strong&gt;Cross-sectional study.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A total of 220 adult urological patients rated 10 standardized AI-generated physician images, presented in the same fixed order, using 11 5-point Likert items and one binary acceptance item. Five images varied by attire (casual, business suit, suit with a white coat, scrubs, and scrubs with a white coat), and five varied by surgical context (neutral, open, endourological, laparoscopic, and robotic). Images were matched to each participant's stated physician-gender preference; the male-image stream (n = 189) formed the primary analysis, and the female-image stream (n = 31) formed a secondary analysis. Within-subject comparisons used the Friedman test with Bonferroni adjustment across outcomes, Page's trend test for the ordered attire hypothesis, and Wilcoxon signed-rank tests. Treatment acceptance was modeled using generalized estimating equations (GEEs) with an exchangeable working correlation.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Ratings varied across the fixed, ordered attire sequence for every perception item (Friedman tests, all Bonferroni-adjusted &lt;i&gt;p&lt;/i&gt; &lt; 0.001); Page's trend tests for the two primary outcomes were also significant (both Bonferroni-adjusted &lt;i&gt;p&lt;/i&gt; &lt; 0.001). Because the attire category was perfectly confounded with presentation position, this pattern cannot be attributed to attire independently of order. For male images, mean trust increased from 2.98 ± 1.34 (casual clothing) to 4.26 ± 0.81 (scrubs with a white coat), and choice likelihood increased from 3.07 ± 1.37 to 4.29 ± 0.84; observed binary treatment acceptance increased from 56.1% to 97.4%. In the adjusted GEE model, acceptance was higher at position 5 (scrubs with a white coat) than at position 1 (casual clothing) [odds ratio, 39.1; 95% confidence interval (CI), 13.1-116.7; adjusted risk difference, +40.3 percentage points; 95% CI, 32.6-48.0]. By contrast, only leadership and attractiveness remained significant among the surgical context comparisons after adjustment, and all context effect sizes were small (Kendall's W ≤ 0.03). Because the context images also differed in several unintended visual respects beyond the operative setting, this comparison is restricted to the specific images shown.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;In this standardized, image-based survey, ratings varied systematically across the fixed, ordered image sequence, with the largest and most consistent differences appearing across the images intended to vary in physician attire. Becaus","PeriodicalId":8690,"journal":{"name":"Balkan Medical Journal","volume":" ","pages":"554-562"},"PeriodicalIF":4.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13635657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148872971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical and Molecular Spectrum of KBG Syndrome in the Largest Independent Turkish Cohort 最大的独立土耳其队列中KBG综合征的临床和分子谱:新的ANKRD11变体,16q24.3缺失,以及稳健ANKRD11变体解释的结构见解
IF 4.5 4区 医学
Balkan Medical Journal Pub Date : 2026-09-29 DOI: 10.4274/balkanmedj.galenos.2026.2026-7-44
İrem Kalay, Tahir Atik, Elif Yılmaz Güleç, Aysel Ünal, Mine Balasar, Hayriye Nermin Keçeci, Çağrı Doğan, Esra Usluer, Burcu Yeter, Kübra Ateş, Alper Gezdirici, Hilmi Bolat, Kübra Taşar, Zeynep Esener, Esra Dirimtekin, Sümeyra Oğuz, Oğuzhan Bahadır, Süheyla Emre, Öznur Yılmaz Bayer, Abdullah İhsan Gürler, Uğur Gümüş, Yusuf Can Doğan, Serdar Bozlak, Halil İbrahim Yılmaz, Sema Nur Kır, Hilal Akalın, Aslıhan Kiraz, İbrahim Tekedereli, Munis Dündar
{"title":"Clinical and Molecular Spectrum of KBG Syndrome in the Largest Independent Turkish Cohort","authors":"İrem Kalay, Tahir Atik, Elif Yılmaz Güleç, Aysel Ünal, Mine Balasar, Hayriye Nermin Keçeci, Çağrı Doğan, Esra Usluer, Burcu Yeter, Kübra Ateş, Alper Gezdirici, Hilmi Bolat, Kübra Taşar, Zeynep Esener, Esra Dirimtekin, Sümeyra Oğuz, Oğuzhan Bahadır, Süheyla Emre, Öznur Yılmaz Bayer, Abdullah İhsan Gürler, Uğur Gümüş, Yusuf Can Doğan, Serdar Bozlak, Halil İbrahim Yılmaz, Sema Nur Kır, Hilal Akalın, Aslıhan Kiraz, İbrahim Tekedereli, Munis Dündar","doi":"10.4274/balkanmedj.galenos.2026.2026-7-44","DOIUrl":"10.4274/balkanmedj.galenos.2026.2026-7-44","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder caused by haploinsufficiency of &lt;i&gt;ANKRD11&lt;/i&gt; on chromosome 16q24.3. Populations outside Western Europe and North America remain underrepresented in the literature, and cohorts that comprehensively evaluate both sequence variants and copy-number variants (CNVs) remain limited.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Aims: &lt;/strong&gt;To characterize the clinical and molecular spectrum of KBG syndrome associated with an identified &lt;i&gt;ANKRD11&lt;/i&gt; alteration in a Turkish multicenter cohort, investigate genotype-phenotype correlations, and assess the contributions of sequence variants and CNVs to disease diagnosis and variant interpretation.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design: &lt;/strong&gt;Multicenter, retrospective cohort study.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;We retrospectively evaluated the clinical, anthropometric, and molecular characteristics of 36 Turkish individuals with KBG syndrome and an identified &lt;i&gt;ANKRD11&lt;/i&gt; alteration (31 pathogenic or likely pathogenic variants and five variants of uncertain significance) who were recruited from multiple pediatric genetics centers. Molecular analyses included whole-exome sequencing, clinical exome sequencing, and chromosomal microarray analysis (CMA). Variants were classified according to the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines. An exploratory genotype-phenotype analysis was performed by comparing truncating, non-truncating sequence variant, and CNV/deletion groups using Fisher's exact and Mann-Whitney U tests, with Benjamini-Hochberg correction for multiple comparisons.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;The cohort comprised 22 males and 14 females (male-to-female ratio, 1.57:1). A total of 29 distinct &lt;i&gt;ANKRD11&lt;/i&gt; alterations were identified, including 25 sequence variants and four distinct 16q24.3 deletions. Truncating variants were predominant (n = 25), while 11 sequence variants and four distinct 16q24.3 deletions further expanded the known molecular spectrum of KBG syndrome. The recurrent variant c.1903_1907del (p.Lys635GlnfsTer26) was identified in three unrelated individuals, supporting exon 9 as a major mutational hotspot. All three missense variants were clustered within the C-terminal degron, consistent with the previously reported enrichment of pathogenic missense variants in this functionally important region. 16q24.3 deletions accounted for 19.4% (7/36) of cases, underscoring the diagnostic value of copy-number analysis in patients with suspected KBG syndrome.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;This study finding expand the clinical and molecular spectrum associated with &lt;i&gt;ANKRD11&lt;/i&gt;, provide further evidence supporting haploinsufficiency as the primary disease mechanism, and underscore the diagnostic importance of CMA in syndromic neurodevelopmental disorders. Furthermore, integrating our cohort data with published findings provides a practical framework for interpre","PeriodicalId":8690,"journal":{"name":"Balkan Medical Journal","volume":" ","pages":""},"PeriodicalIF":4.5,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149073471","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
Inhalation Injury: Update on Pathogenesis, Emerging Hazards, and Management. 吸入性损伤:发病机制、新出现的危害和管理的最新进展。
IF 4.5 4区 医学
Balkan Medical Journal Pub Date : 2026-09-25 DOI: 10.4274/balkanmedj.galenos.2026.2026-7-35
Metin Akgün, Benoit Nemery
{"title":"Inhalation Injury: Update on Pathogenesis, Emerging Hazards, and Management.","authors":"Metin Akgün, Benoit Nemery","doi":"10.4274/balkanmedj.galenos.2026.2026-7-35","DOIUrl":"https://doi.org/10.4274/balkanmedj.galenos.2026.2026-7-35","url":null,"abstract":"<p><p>Inhalation injury, the pulmonary and systemic damage caused by a single or brief exposure to toxic gases, vapors, aerosols, or particulate matter, encompasses exposure categories ranging from structural-fire smoke and industrial chemical releases to wildfire smoke, earthquake-generated dust, and novel consumer products. Relevant exposures differ markedly in timescale, and four entities are distinguished: acute inhalation injury; subacute toxic pneumonitis, which follows repeated exposure peaks or sustained exposure over weeks to months; chronic inhalational disease; and population-level environmental exposure, which indicates the scale of exposure rather than the incidence of acute injury. Mass-casualty disasters of the twentieth century, from urban smog and industrial chemical releases to fires and warfare, shaped early understanding of the field, and several contemporary exposure categories have emerged in recent years. Injury involves three potentially interacting processes: thermal damage to the upper airway, chemical irritation and inflammatory injury throughout the lower airways and alveoli, and systemic toxicity from absorbed asphyxiants. The site of injury is determined by the water solubility of inhaled gases and the aerodynamic diameter of inhaled particles, and both chemicals and ultrafine particles can translocate across the alveolar-capillary membrane into the systemic circulation. Underrecognized categories include chloramines generated by mixing household cleaning agents, fumigants used in ships, freight containers, and greenhouses, fluorine-based agents from waterproofing sprays and polymer pyrolysis, and pesticides that injure the lung by inhalation or systemic absorption. Management has relied largely on observational data, small case series, and expert opinion; international guidelines for acute respiratory distress syndrome now provide a firmer evidence base for ventilatory support, whereas adjunctive therapies, including nebulized anticoagulants, hyperbaric oxygen, and corticosteroids, remain uncertain. Most survivors recover, but a clinically important minority develop reactive airways dysfunction syndrome, bronchiolitis obliterans, organizing pneumonia, bronchiectasis, or accelerated decline in lung function, and long-term data for emerging exposure categories are sparse. Sequelae are not confined to the lung: structural airway lesions, sinonasal and ocular damage, late neurological effects, and psychosocial and medicolegal consequences all contribute to the burden and are systematically underrecorded. This review is organized around mechanism rather than setting, bringing together the pathogenesis of injury, the widening spectrum of environmental.</p>","PeriodicalId":8690,"journal":{"name":"Balkan Medical Journal","volume":" ","pages":""},"PeriodicalIF":4.5,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149036402","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
Toward Continuous, Multimodal Perioperative Intelligence: Translating Artificial Intelligence from Risk Prediction to Clinical Practice. 面向连续的、多模式的围手术期智能:将人工智能从风险预测应用到临床实践。
IF 4.5 4区 医学
Balkan Medical Journal Pub Date : 2026-09-21 DOI: 10.4274/balkanmedj.galenos.2026.2026.070926
Lizbeth Hu, Ozan Akca, Jochen D Muehlschlegel, Gari Clifford
{"title":"Toward Continuous, Multimodal Perioperative Intelligence: Translating Artificial Intelligence from Risk Prediction to Clinical Practice.","authors":"Lizbeth Hu, Ozan Akca, Jochen D Muehlschlegel, Gari Clifford","doi":"10.4274/balkanmedj.galenos.2026.2026.070926","DOIUrl":"https://doi.org/10.4274/balkanmedj.galenos.2026.2026.070926","url":null,"abstract":"","PeriodicalId":8690,"journal":{"name":"Balkan Medical Journal","volume":" ","pages":""},"PeriodicalIF":4.5,"publicationDate":"2026-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149011786","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信
小红书