Pub Date : 2024-01-16eCollection Date: 2024-01-01DOI: 10.14744/hf.2022.2022.0046
Kadir Intas
Herbal medicines are widely used worldwide to treat minor ailments and prevent disease. Scotch pine (Pinus sylvestris) has many medicinal applications but is most well-known for its antiseptic properties and beneficial effects on the respiratory system. Herbal products can cause adverse side effects like liver injury, which is referred to as herb-induced liver damage (HILI). In this article, we present a patient who used Scotch pine to treat asthma and developed HILI. To the best of our knowledge, this is the first case of Scotch pine-related HILI described in the literature.
草药在世界各地被广泛用于治疗小病和预防疾病。苏格兰松(Pinus sylvestris)有许多药用价值,但最著名的是它的杀菌特性和对呼吸系统的有益作用。草药产品可能会导致肝损伤等不良副作用,这种副作用被称为草药引起的肝损伤(HILI)。本文介绍了一位使用苏格兰松治疗哮喘并导致 HILI 的患者。据我们所知,这是文献中描述的第一例与苏格兰松相关的 HILI。
{"title":"Scotch pine-induced liver injury: A case report.","authors":"Kadir Intas","doi":"10.14744/hf.2022.2022.0046","DOIUrl":"10.14744/hf.2022.2022.0046","url":null,"abstract":"<p><p>Herbal medicines are widely used worldwide to treat minor ailments and prevent disease. Scotch pine (<i>Pinus sylvestris</i>) has many medicinal applications but is most well-known for its antiseptic properties and beneficial effects on the respiratory system. Herbal products can cause adverse side effects like liver injury, which is referred to as herb-induced liver damage (HILI). In this article, we present a patient who used Scotch pine to treat asthma and developed HILI. To the best of our knowledge, this is the first case of Scotch pine-related HILI described in the literature.</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":"5 1","pages":"47-48"},"PeriodicalIF":1.2,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10809342/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571413","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}
Pub Date : 2024-01-16eCollection Date: 2024-01-01DOI: 10.14744/hf.2023.2023.0010
Mesut Akarsu, Suleyman Dolu, Murat Harputluoglu, Sezai Yilmaz, Murat Akyildiz, Genco Gencdal, Kamil Yalcin Polat, Dinc Dincer, Haydar Adanir, Ilker Turan, Fulya Gunsar, Zeki Karasu, Hale Gokcan, Sedat Karademir, Gokhan Kabacam, Meral Akdogan Kayhan, Murat Kiyici, Murat Taner Gulsen, Yasemin Balaban, Ahmet Bulent Dogrul, Ali Senkaya, Zeynep Melekoglu Ellik, Fatih Eren, Ramazan Idilman
Background and aim: This study aimed to identify the indications for liver transplantation (LT) based on underlying etiology and to characterize the patients who underwent LT.
Materials and methods: We conducted a multicenter cross-sectional observational study across 11 tertiary centers in Turkiye from 2010 to 2020. The study included 5,080 adult patients.
Results: The mean age of patients was 50.3±15.2 years, with a predominance of female patients (70%). Chronic viral hepatitis (46%) was the leading etiological factor, with Hepatitis B virus infection at 35%, followed by cryptogenic cirrhosis (24%), Hepatitis C virus infection (8%), and alcohol-related liver disease (ALD) (6%). Post-2015, there was a significant increase in both the number of liver transplants and the proportion of living donor liver transplants (p<0.001). A comparative analysis of patient characteristics before and after 2015 showed a significant decline in viral hepatitis-related LT (p<0.001), whereas fatty liver disease-related LT significantly increased (p<0.001).
Conclusion: Chronic viral hepatitis continues to be the primary indication for LT in Turkiye. However, the proportions of non-alcoholic fatty liver disease (NAFLD) and ALD-related LT have seen an upward trend over the years.
{"title":"Changing trends in the etiology of liver transplantation in Turkiye: A multicenter study.","authors":"Mesut Akarsu, Suleyman Dolu, Murat Harputluoglu, Sezai Yilmaz, Murat Akyildiz, Genco Gencdal, Kamil Yalcin Polat, Dinc Dincer, Haydar Adanir, Ilker Turan, Fulya Gunsar, Zeki Karasu, Hale Gokcan, Sedat Karademir, Gokhan Kabacam, Meral Akdogan Kayhan, Murat Kiyici, Murat Taner Gulsen, Yasemin Balaban, Ahmet Bulent Dogrul, Ali Senkaya, Zeynep Melekoglu Ellik, Fatih Eren, Ramazan Idilman","doi":"10.14744/hf.2023.2023.0010","DOIUrl":"10.14744/hf.2023.2023.0010","url":null,"abstract":"<p><strong>Background and aim: </strong>This study aimed to identify the indications for liver transplantation (LT) based on underlying etiology and to characterize the patients who underwent LT.</p><p><strong>Materials and methods: </strong>We conducted a multicenter cross-sectional observational study across 11 tertiary centers in Turkiye from 2010 to 2020. The study included 5,080 adult patients.</p><p><strong>Results: </strong>The mean age of patients was 50.3±15.2 years, with a predominance of female patients (70%). Chronic viral hepatitis (46%) was the leading etiological factor, with Hepatitis B virus infection at 35%, followed by cryptogenic cirrhosis (24%), Hepatitis C virus infection (8%), and alcohol-related liver disease (ALD) (6%). Post-2015, there was a significant increase in both the number of liver transplants and the proportion of living donor liver transplants (p<0.001). A comparative analysis of patient characteristics before and after 2015 showed a significant decline in viral hepatitis-related LT (p<0.001), whereas fatty liver disease-related LT significantly increased (p<0.001).</p><p><strong>Conclusion: </strong>Chronic viral hepatitis continues to be the primary indication for LT in Turkiye. However, the proportions of non-alcoholic fatty liver disease (NAFLD) and ALD-related LT have seen an upward trend over the years.</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":"5 1","pages":"3-6"},"PeriodicalIF":1.2,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10809344/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571354","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}
Pub Date : 2024-01-16eCollection Date: 2024-01-01DOI: 10.14744/hf.2022.2022.0052
Methiye Mancak, Dudu Altintas, Yasemin Balaban, Ufuk Koca Caliskan
The liver is the main organ for metabolic and detoxification reactions in the body. Therefore, its diseases can be associated with both metabolic disorders, such as insulin resistance, obesity, diabetes, or dyslipidemia, and exogenous insults such as drugs, xenobiotics, or alcohol. Indeed, lifestyle changes are the primary approaches for the prevention and treatment of liver diseases. Since ancient times, herbals have also been used for preventive and therapeutic purposes, because of their anti-apoptotic, anti-inflammatory, and antioxidant effects. Here, the literature was reviewed for potential therapeutic effects of plants and their compounds by including in vitro and in vivo studies, as well as clinical trials. Although the available data imply some beneficial roles of herbals on the liver, the indications and posology of specific plants need to be clarified through multicenter, randomized clinical trials.
{"title":"Evidence-based herbal treatments in liver diseases.","authors":"Methiye Mancak, Dudu Altintas, Yasemin Balaban, Ufuk Koca Caliskan","doi":"10.14744/hf.2022.2022.0052","DOIUrl":"10.14744/hf.2022.2022.0052","url":null,"abstract":"<p><p>The liver is the main organ for metabolic and detoxification reactions in the body. Therefore, its diseases can be associated with both metabolic disorders, such as insulin resistance, obesity, diabetes, or dyslipidemia, and exogenous insults such as drugs, xenobiotics, or alcohol. Indeed, lifestyle changes are the primary approaches for the prevention and treatment of liver diseases. Since ancient times, herbals have also been used for preventive and therapeutic purposes, because of their anti-apoptotic, anti-inflammatory, and antioxidant effects. Here, the literature was reviewed for potential therapeutic effects of plants and their compounds by including <i>in vitro</i> and <i>in vivo</i> studies, as well as clinical trials. Although the available data imply some beneficial roles of herbals on the liver, the indications and posology of specific plants need to be clarified through multicenter, randomized clinical trials.</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":"5 1","pages":"50-60"},"PeriodicalIF":1.2,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10809338/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571376","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}
Pub Date : 2024-01-16eCollection Date: 2024-01-01DOI: 10.14744/hf.2023.2023.0045
Lubna Kamani, Adeel Rahat, Yusuf Yilmaz
{"title":"Addressing the looming epidemic of metabolic dysfunction-associated steatotic liver disease in Pakistan: A call for action.","authors":"Lubna Kamani, Adeel Rahat, Yusuf Yilmaz","doi":"10.14744/hf.2023.2023.0045","DOIUrl":"10.14744/hf.2023.2023.0045","url":null,"abstract":"","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":"5 1","pages":"1-2"},"PeriodicalIF":1.2,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10809346/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571233","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}
Pub Date : 2024-01-16eCollection Date: 2024-01-01DOI: 10.14744/hf.2022.2022.0003
Shahinul Alam, Pallab Kumar Datta, Mahabubul Alam, Mohammad Jahid Hasan
Background and aim: To compare the effects of probiotics on liver stiffness and steatosis in obese and non-obese patients with nonalcoholic fatty liver disease (NAFLD),the pragmatic clinical trial included 50 obese body mass index (BMI) ≥25 kg/m2 and 50 non-obese NAFLD BMI <25 kg/m2 age and sex-matched patients.
Materials and methods: Fibroscan with controlled attenuated parameter (CAP) was done at day 0 and at the end of 6 months. Probiotics supplementation was provided for both groups for 6 months along with lifestyle modifications.
Results: At inclusion, both groups had comparable characteristics except BMI, metabolic syndrome and waist circumference (WC). Beneficial changes occurred in BMI (p=0.024), WC (p=0.045), ALT (p=0.024), total cholesterol (p=0.016), LDL (p=0.025) and triglyceride (p=0.021) of obese group, systolic blood pressure (p=0.003) and LDL level (p=0.018) in non-obese group. No significant change was observed in liver enzymes and glycemic profiles. Significant improvement in CAP was observed in both groups. But after adjusting for changes in BMI and WC, the change in CAP among non-obese participants were significantly higher compared to obese, mean change of 19.33±48.87 and 16.02±51.58 dB/m in non-obese and obese patients, respectively; p=0.044).
Conclusion: Probiotics improve CAP/ steatosis in both obese and non-obese NAFLD patients and improvement was higher in non-obese, irrespective of BMI change.
背景和目的:为了比较益生菌对肥胖和非肥胖非酒精性脂肪肝(NAFLD)患者肝脏僵硬度和脂肪变性的影响,该实用临床试验纳入了50名体重指数(BMI)≥25 kg/m2的肥胖患者和50名年龄和性别匹配的非肥胖NAFLD BMI 2患者:在第 0 天和 6 个月结束时使用受控衰减参数(CAP)进行纤维扫描。两组患者均补充益生菌 6 个月,同时改变生活方式:除了体重指数(BMI)、代谢综合征和腰围(WC)外,两组在纳入时的特征具有可比性。肥胖组的体重指数(p=0.024)、腰围(p=0.045)、谷丙转氨酶(p=0.024)、总胆固醇(p=0.016)、低密度脂蛋白(p=0.025)和甘油三酯(p=0.021),以及非肥胖组的收缩压(p=0.003)和低密度脂蛋白水平(p=0.018)都发生了有益的变化。肝酶和血糖谱未观察到明显变化。两组的 CAP 均有明显改善。但在调整体重指数(BMI)和腹围(WC)的变化后,非肥胖参与者的 CAP 变化明显高于肥胖者,非肥胖患者和肥胖患者的平均变化分别为(19.33±48.87)和(16.02±51.58)dB/m;P=0.044):结论:益生菌可改善肥胖和非肥胖非酒精性脂肪肝患者的CAP/脂肪变性,非肥胖患者的改善程度更高,与体重指数的变化无关。
{"title":"Effect of probiotics supplementation on liver stiffness and steatosis in patients with NAFLD.","authors":"Shahinul Alam, Pallab Kumar Datta, Mahabubul Alam, Mohammad Jahid Hasan","doi":"10.14744/hf.2022.2022.0003","DOIUrl":"10.14744/hf.2022.2022.0003","url":null,"abstract":"<p><strong>Background and aim: </strong>To compare the effects of probiotics on liver stiffness and steatosis in obese and non-obese patients with nonalcoholic fatty liver disease (NAFLD),the pragmatic clinical trial included 50 obese body mass index (BMI) ≥25 kg/m<sup>2</sup> and 50 non-obese NAFLD BMI <25 kg/m<sup>2</sup> age and sex-matched patients.</p><p><strong>Materials and methods: </strong>Fibroscan with controlled attenuated parameter (CAP) was done at day 0 and at the end of 6 months. Probiotics supplementation was provided for both groups for 6 months along with lifestyle modifications.</p><p><strong>Results: </strong>At inclusion, both groups had comparable characteristics except BMI, metabolic syndrome and waist circumference (WC). Beneficial changes occurred in BMI (p=0.024), WC (p=0.045), ALT (p=0.024), total cholesterol (p=0.016), LDL (p=0.025) and triglyceride (p=0.021) of obese group, systolic blood pressure (p=0.003) and LDL level (p=0.018) in non-obese group. No significant change was observed in liver enzymes and glycemic profiles. Significant improvement in CAP was observed in both groups. But after adjusting for changes in BMI and WC, the change in CAP among non-obese participants were significantly higher compared to obese, mean change of 19.33±48.87 and 16.02±51.58 dB/m in non-obese and obese patients, respectively; p=0.044).</p><p><strong>Conclusion: </strong>Probiotics improve CAP/ steatosis in both obese and non-obese NAFLD patients and improvement was higher in non-obese, irrespective of BMI change.</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":"5 1","pages":"18-24"},"PeriodicalIF":1.2,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10809339/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571372","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}
Pub Date : 2024-01-16eCollection Date: 2024-01-01DOI: 10.14744/hf.2022.2022.0035
Yavuz Ozden, Sebnem Gursoy
We present a case of POEMS syndrome from Turkiye, a rare, multisystemic condition resulting from plasma cell dyscrasia. POEMS is an acronym representing its cardinal features: Peripheral neuropathy; Organomegaly; Endocrinopathy; Monoclonal plasma-cell proliferative disorder; and Skin changes. The syndrome has an estimated prevalence of 0.3 per 100,000 individuals and typically manifests in the fifth or sixth decade of life. Progressive peripheral neuropathy is the syndrome's most prominent symptom. To ensure an accurate diagnosis, a thorough medical history, physical examination, and comprehensive diagnostic evaluations are essential. These evaluations should include serum immunoelectrophoresis, serum cytokines, and growth factors, a skeletal survey, and a bone marrow biopsy. Early recognition and treatment of POEMS syndrome are crucial to prevent debilitating progression and to optimize clinical outcomes.
{"title":"From hepatomegaly to POEMS syndrome: A case report.","authors":"Yavuz Ozden, Sebnem Gursoy","doi":"10.14744/hf.2022.2022.0035","DOIUrl":"10.14744/hf.2022.2022.0035","url":null,"abstract":"<p><p>We present a case of POEMS syndrome from Turkiye, a rare, multisystemic condition resulting from plasma cell dyscrasia. POEMS is an acronym representing its cardinal features: Peripheral neuropathy; Organomegaly; Endocrinopathy; Monoclonal plasma-cell proliferative disorder; and Skin changes. The syndrome has an estimated prevalence of 0.3 per 100,000 individuals and typically manifests in the fifth or sixth decade of life. Progressive peripheral neuropathy is the syndrome's most prominent symptom. To ensure an accurate diagnosis, a thorough medical history, physical examination, and comprehensive diagnostic evaluations are essential. These evaluations should include serum immunoelectrophoresis, serum cytokines, and growth factors, a skeletal survey, and a bone marrow biopsy. Early recognition and treatment of POEMS syndrome are crucial to prevent debilitating progression and to optimize clinical outcomes.</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":"5 1","pages":"44-46"},"PeriodicalIF":1.2,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10809343/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571379","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}
Pub Date : 2023-12-07eCollection Date: 2024-01-01DOI: 10.14744/hf.2023.2023.0018
Eren Sahin, Ali Dag, Fatih Eren
Coronavirus disease-2019 (COVID-19) is a novel multisystemic viral disease caused pandemic. The disease impact involves liver and associated systems. Undoubtedly, host genetic background influences the predisposition and prediction of infection. Variants among human populations might increase susceptibility or protect against severe outcomes. In this manner, rs738409 variant of patatin-like phospholipase domain-containing protein 3 gene appears to be protective in some populations in spite of its aggravating effect on non-alcoholic fatty liver diseases (NAFLDs) and steatohepatitis. DRB1*15:01 allele of human leukocyte antigen is associated with protective effect in European and Japanese populations. DRB1*03:01 contrarily increases the susceptibility of severe COVID-19 infection in European populations. rs1260326 in glucokinase regulatory protein gene, rs112875651 in tribbles homolog 1 gene, rs429358 in apolipoprotein 1, and rs58542926 in transmembrane 6 superfamily 2 alleles are found related with NAFLD and obesity; thus, hypercoagulability and severe COVID-19 outcomes. In chronic or acute liver diseases, comorbid syndromes are the key factors to explain increased severity. There might not be a direct association between the variant and severe COVID-19 infection. As it is concluded, there are genes and variants known and unknown yet to be studied to reveal the association with disease severity.
{"title":"The pleiotropic approach to coronavirus disease-19 pathogenesis: The impact of liver diseases associated host genetic variants.","authors":"Eren Sahin, Ali Dag, Fatih Eren","doi":"10.14744/hf.2023.2023.0018","DOIUrl":"10.14744/hf.2023.2023.0018","url":null,"abstract":"<p><p>Coronavirus disease-2019 (COVID-19) is a novel multisystemic viral disease caused pandemic. The disease impact involves liver and associated systems. Undoubtedly, host genetic background influences the predisposition and prediction of infection. Variants among human populations might increase susceptibility or protect against severe outcomes. In this manner, rs738409 variant of patatin-like phospholipase domain-containing protein 3 gene appears to be protective in some populations in spite of its aggravating effect on non-alcoholic fatty liver diseases (NAFLDs) and steatohepatitis. DRB1*15:01 allele of human leukocyte antigen is associated with protective effect in European and Japanese populations. DRB1*03:01 contrarily increases the susceptibility of severe COVID-19 infection in European populations. rs1260326 in glucokinase regulatory protein gene, rs112875651 in tribbles homolog 1 gene, rs429358 in apolipoprotein 1, and rs58542926 in transmembrane 6 superfamily 2 alleles are found related with NAFLD and obesity; thus, hypercoagulability and severe COVID-19 outcomes. In chronic or acute liver diseases, comorbid syndromes are the key factors to explain increased severity. There might not be a direct association between the variant and severe COVID-19 infection. As it is concluded, there are genes and variants known and unknown yet to be studied to reveal the association with disease severity.</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":"5 2","pages":"93-96"},"PeriodicalIF":0.8,"publicationDate":"2023-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10936119/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140132736","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}
Pub Date : 2023-12-07eCollection Date: 2024-01-01DOI: 10.14744/hf.2022.2022.0032
Hussam Bukhari, Andre Mattman, Gordon Ritchie, Laura Burns, Eric Yoshida, David Schaeffer, Hui-Min Yang
Background and aim: Patients suspected of Alpha 1-Antitrypsin (A1AT) abnormality based on low serum concentration are routinely confirmed through polymerase chain reaction (PCR) testing of peripheral blood. Genotyping formalin-fixed paraffin-embedded (FFPE) tissue is a novel approach that could aid in detecting variant A1AT. We performed qPCR on FFPE liver explants with Periodic Acid Schiff after Diastase (PASD)- and A1AT-positive globules to confirm and estimate the frequency of A1AT deficiency in transplant cases.
Materials and methods: Eighteen (12.68%) of 142 patients with end-stage liver disease showed PASD/A1AT positive globules. FFPE of the explants was tested through qPCR to detect S and Z alleles. A second age- and sex-matched control group consisting of five liver transplant patients with negative globules was included in the study.
Results: qPCR assay was successful with all the samples meeting QC parameters. All patients included in the study elucidated Z allele variants; 2 homozygous (11.1%) and 16 heterozygous (88.9%). The control group demonstrated normal wild-type MM allele.
Conclusion: Screening for A1AT deficiency using serum levels is not sufficiently sensitive to detect deficiency, especially in carriers. If A1AT testing was not performed preoperatively and the risk is high based on the PASD/A1AT-positive globules in the explants, then molecular testing of FFPE tissue can be a viable method for confirming the diagnosis.
背景和目的:因血清浓度低而怀疑α-1-抗胰蛋白酶(A1AT)异常的患者通常要通过外周血聚合酶链反应(PCR)检测来确认。对福尔马林固定石蜡包埋(FFPE)组织进行基因分型是一种有助于检测变异 A1AT 的新方法。我们对FFPE肝脏外植体进行了qPCR检测,检测结果显示PASD和A1AT阳性球蛋白,以确认和估计移植病例中A1AT缺乏的频率:142例终末期肝病患者中有18例(12.68%)出现PASD/A1AT阳性球蛋白。通过 qPCR 检测外植体的 FFPE,以检测 S 和 Z 等位基因。结果:qPCR 检测成功,所有样本均符合质控参数。研究中的所有患者都阐明了 Z 等位基因变异:2 例同源变异(11.1%)和 16 例杂合变异(88.9%)。对照组显示出正常的野生型 MM 等位基因:结论:使用血清水平筛查 A1AT 缺乏症的灵敏度不够,尤其是在携带者中。如果术前未进行 A1AT 检测,且根据外植体中的 PASD/A1AT 阳性球粒来看风险很高,那么对 FFPE 组织进行分子检测是确诊的可行方法。
{"title":"Molecular confirmation of alpha 1-antitrypsin deficiency in liver transplant setting: A province-wide experience.","authors":"Hussam Bukhari, Andre Mattman, Gordon Ritchie, Laura Burns, Eric Yoshida, David Schaeffer, Hui-Min Yang","doi":"10.14744/hf.2022.2022.0032","DOIUrl":"10.14744/hf.2022.2022.0032","url":null,"abstract":"<p><strong>Background and aim: </strong>Patients suspected of Alpha 1-Antitrypsin (A1AT) abnormality based on low serum concentration are routinely confirmed through polymerase chain reaction (PCR) testing of peripheral blood. Genotyping formalin-fixed paraffin-embedded (FFPE) tissue is a novel approach that could aid in detecting variant A1AT. We performed qPCR on FFPE liver explants with Periodic Acid Schiff after Diastase (PASD)- and A1AT-positive globules to confirm and estimate the frequency of A1AT deficiency in transplant cases.</p><p><strong>Materials and methods: </strong>Eighteen (12.68%) of 142 patients with end-stage liver disease showed PASD/A1AT positive globules. FFPE of the explants was tested through qPCR to detect S and Z alleles. A second age- and sex-matched control group consisting of five liver transplant patients with negative globules was included in the study.</p><p><strong>Results: </strong>qPCR assay was successful with all the samples meeting QC parameters. All patients included in the study elucidated Z allele variants; 2 homozygous (11.1%) and 16 heterozygous (88.9%). The control group demonstrated normal wild-type MM allele.</p><p><strong>Conclusion: </strong>Screening for A1AT deficiency using serum levels is not sufficiently sensitive to detect deficiency, especially in carriers. If A1AT testing was not performed preoperatively and the risk is high based on the PASD/A1AT-positive globules in the explants, then molecular testing of FFPE tissue can be a viable method for confirming the diagnosis.</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":"5 2","pages":"68-72"},"PeriodicalIF":0.8,"publicationDate":"2023-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10936117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140132734","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}
Pub Date : 2023-09-20eCollection Date: 2023-01-01DOI: 10.14744/hf.2023.2023.0008
Mohammad Fawad Khattak, Sam Thomson
A 36-year-old patient presented with severe early-onset obstetric cholestasis on a background of having pre-term induction of labor at 33 weeks during her only previous pregnancy. The patient had significantly abnormal liver biochemistry with a bilirubin of 78 µmol/L, ALP of 318 u/L, ALT of 280 µmol/L, and bile acid levels of 420 µmol/L. The patient received ursodeoxycholic acid 750 mg 3 times a day, rifampicin 500 mg twice a day, aspirin 150 mg once a day, and metformin 500 mg 3 times a day. However, despite this, the patient still suffered from intractable pruritus and her bile acid level was still above the 100 µmol/L target that the obstetrics team was aiming for to avoid early delivery at 32 weeks. Due to the nature and severity of her cholestasis, the patient had a number of investigations done postnatally including genetic analysis, which confirmed that the patient was heterozygous for a pathogenic variant of the ATP-binding cassette subfamily B member 4 gene (c.959C>T [p.Ser320Phe]) and also a variant of unknown significance (c.1679C>T [p.Thr560Met]).
{"title":"Recurrent early-onset severe obstetric cholestasis in a patient with two variants in the ABCB4 gene.","authors":"Mohammad Fawad Khattak, Sam Thomson","doi":"10.14744/hf.2023.2023.0008","DOIUrl":"10.14744/hf.2023.2023.0008","url":null,"abstract":"<p><p>A 36-year-old patient presented with severe early-onset obstetric cholestasis on a background of having pre-term induction of labor at 33 weeks during her only previous pregnancy. The patient had significantly abnormal liver biochemistry with a bilirubin of 78 µmol/L, ALP of 318 u/L, ALT of 280 µmol/L, and bile acid levels of 420 µmol/L. The patient received ursodeoxycholic acid 750 mg 3 times a day, rifampicin 500 mg twice a day, aspirin 150 mg once a day, and metformin 500 mg 3 times a day. However, despite this, the patient still suffered from intractable pruritus and her bile acid level was still above the 100 µmol/L target that the obstetrics team was aiming for to avoid early delivery at 32 weeks. Due to the nature and severity of her cholestasis, the patient had a number of investigations done postnatally including genetic analysis, which confirmed that the patient was heterozygous for a pathogenic variant of the ATP-binding cassette subfamily B member 4 gene (c.959C>T [p.Ser320Phe]) and also a variant of unknown significance (c.1679C>T [p.Thr560Met]).</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":"4 3","pages":"142-144"},"PeriodicalIF":0.8,"publicationDate":"2023-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/31/68/hf-4-142.PMC10564254.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41214616","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}
Background and aim: Alcohol-induced liver disease has become one of the major causes of chronic liver disease worldwide with the increasing use of alcohol in society. The most important step in treatment is cessation of alcohol consumption. In patients with advanced liver disease, the most effective treatment is liver transplantation. Careful evaluation of patients with alcoholic liver disease before transplantation can help identify those at high risk of relapsing.
Materials and methods: Of a total of 42 patients who underwent liver transplantation for alcohol-related liver failure in our hospital between 2011 and 2022, 26 surviving patients were included in the study. Patient data were analyzed retrospectively. Demographic data, MELD score, history of alcohol consumption, alcohol treatment, post-transplant prognosis and survival were analyzed. The Barratt Impulsivity Scale-11 Short Form (BIS-11 SF) was applied to the surviving patients for impulsivity analysis to predict the possibility of relapse.
Results: Of the 26 patients who were included in the study, all were male. The mean age at transplantation was 53 (31-71) years. Mean MELD score was 22.31 (9-36). 12 patients (46.2%) received living donor liver transplantation and 14 patients (53.8%) received cadaveric liver transplantation. 25 patients (96.2%) had no post-transplant dependence, while 1 patient (3.8%) had post-transplant dependence. 5 patients (19.2%) continued to consume alcohol after transplantation.
Conclusion: In our study, we observed that patients with high motor impulsivity tendency according to BSI-11 SF had alcohol relapse. We believe that revising this scale with more detailed questions for alcohol-dependent liver patients and applying it to patients before transplantation will be effective in better selection for transplantation and guiding patients to appropriate therapy and thus preventing relapse after transplantation.
{"title":"A new method for predicting alcohol relapse in patients undergoing liver transplantation for alcohol-related liver failure: Barratt scale.","authors":"Veysel Umman, Tufan Gumus, Ebubekir Korucuk, Recep Temel, Ozen Onen Sertoz, Fulya Gunsar, Alper Uguz, Murat Zeytunlu, Sukru Emre","doi":"10.14744/hf.2023.2023.0048","DOIUrl":"10.14744/hf.2023.2023.0048","url":null,"abstract":"<p><strong>Background and aim: </strong>Alcohol-induced liver disease has become one of the major causes of chronic liver disease worldwide with the increasing use of alcohol in society. The most important step in treatment is cessation of alcohol consumption. In patients with advanced liver disease, the most effective treatment is liver transplantation. Careful evaluation of patients with alcoholic liver disease before transplantation can help identify those at high risk of relapsing.</p><p><strong>Materials and methods: </strong>Of a total of 42 patients who underwent liver transplantation for alcohol-related liver failure in our hospital between 2011 and 2022, 26 surviving patients were included in the study. Patient data were analyzed retrospectively. Demographic data, MELD score, history of alcohol consumption, alcohol treatment, post-transplant prognosis and survival were analyzed. The Barratt Impulsivity Scale-11 Short Form (BIS-11 SF) was applied to the surviving patients for impulsivity analysis to predict the possibility of relapse.</p><p><strong>Results: </strong>Of the 26 patients who were included in the study, all were male. The mean age at transplantation was 53 (31-71) years. Mean MELD score was 22.31 (9-36). 12 patients (46.2%) received living donor liver transplantation and 14 patients (53.8%) received cadaveric liver transplantation. 25 patients (96.2%) had no post-transplant dependence, while 1 patient (3.8%) had post-transplant dependence. 5 patients (19.2%) continued to consume alcohol after transplantation.</p><p><strong>Conclusion: </strong>In our study, we observed that patients with high motor impulsivity tendency according to BSI-11 SF had alcohol relapse. We believe that revising this scale with more detailed questions for alcohol-dependent liver patients and applying it to patients before transplantation will be effective in better selection for transplantation and guiding patients to appropriate therapy and thus preventing relapse after transplantation.</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":"4 3","pages":"118-122"},"PeriodicalIF":0.8,"publicationDate":"2023-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/67/15/hf-4-118.PMC10564253.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41214608","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}