Article
Gastroenterology & Hepatology
Xiao-Tong Mao, Shun-Jiang Deng, Rui-Lin Kang, Yuan-Chen Wang, Zhao-Shen Li, Wen-Bin Zou, Zhuan Liao
Summary: There were no associations between the CEL VNTR length and ACP or pancreatic cancer. However, homozygosity for short VNTR lengths may confer susceptibility to ICP.
Article
Gastroenterology & Hepatology
Xiao-Tong Mao, Wen-Bin Zou, Yu Cao, Yuan-Chen Wang, Shun-Jiang Deng, David N. Cooper, Claude Ferec, Zhao-Shen Li, Jian-Min Chen, Zhuan Liao
Summary: This study demonstrated that the expression of CEL-HYB1 gene in mice leads to pancreatitis through endoplasmic reticulum stress and impaired autophagy. These findings contribute to the identification of therapeutic targets for chronic pancreatitis.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2022)
Article
Gastroenterology & Hepatology
Karianne Fjeld, Anny Gravdal, Ranveig S. Brekke, Jahedul Alam, Steven J. Wilhelm, Khadija El Jellas, Helene N. Pettersen, Jianguo Lin, Marie H. Solheim, Solrun J. Steine, Bente B. Johansson, Pal R. Njolstad, Caroline S. Verbeke, Xunjun Xiao, Mark E. Lowe, Anders Molven
Summary: A new mouse model has been developed that confirms the association between the CEL-HYB1 variant and increased risk of chronic pancreatitis, showing characteristics of chronic pancreatitis including inflammation, acinar atrophy, and fatty replacement. These features became more pronounced as the animals aged.
Article
Biochemistry & Molecular Biology
Anny Gravdal, Xunjun Xiao, Miriam Cnop, Khadija El Jellas, Stefan Johansson, Pal R. Njolstad, Mark E. Lowe, Bente B. Johansson, Anders Molven, Karianne Fjeld
Summary: The study found that single-base deletions in different VNTR segments of the CEL gene can lead to specific genetic disorders, such as MODY8. DEL1 and DEL4 variants had the highest pathological potential, affecting cell secretion, intracellular aggregation, and endoplasmic reticulum stress significantly.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2021)
Article
Gastroenterology & Hepatology
Erling Tjora, Anny Gravdal, Trond Engjom, Miriam Cnop, Bente B. Johansson, Georg G. Dimcevski, Anders Molven, Karianne Fjeld
Summary: The hybrid allele of the carboxyl ester lipase gene (CEL-HYB1) is a genetic risk factor for chronic pancreatitis (CP). The research shows that CEL-HYB1 may cause disease through a misfolding-dependent pathway in conjunction with other known pancreatitis risk factors.
EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
(2021)
Article
Gastroenterology & Hepatology
Michael Hirth, Philipp Goeltl, Christel Weiss, Matthias P. Ebert, Alexander Schneider
Summary: In patients with alcoholic chronic pancreatitis, advanced pancreatic burnout is closely associated with liver cirrhosis, disease duration, and rate of calcification, but not with the amount of alcohol consumption. The liver appears to be more vulnerable to alcohol damage compared to the pancreas.
Article
Biotechnology & Applied Microbiology
Parneet Kaur, Asim Kumar Jana
Summary: The aim of this study was to functionalize Fe3O4 coated multiwalled carbon nanotubes (MWCNTs) with carboxyl groups and immobilize Candida rugosa lipase on MWCNTs using N-(3-dimethylaminopropyl)-N'-ethylcarbodiimide hydrochloride (EDC) / N-hydroxysuccinimide (NHS), dopamine, ethyl methacrylate and adipic acid for improved enzyme characteristics and use in ester production. The immobilized enzyme nanoparticles were characterized using various techniques. The maximum protein loading and immobilized enzyme activity were achieved under optimal conditions. The immobilized enzyme showed stability and high esterification yields. It could be separated and reused for multiple cycles. This study demonstrates the potential of the immobilized enzyme for producing various fruit flavor esters.
BIOTECHNOLOGY AND BIOPROCESS ENGINEERING
(2023)
Article
Veterinary Sciences
Sue Yee Lim, Jorg M. Steiner, Harry Cridge
Summary: This article discusses commonly used lipase assays in veterinary medicine, highlights potential diagnostic pitfalls, and proposes a decision tree for interpreting lipase assays in a clinical patient context.
JAVMA-JOURNAL OF THE AMERICAN VETERINARY MEDICAL ASSOCIATION
(2022)
Review
Endocrinology & Metabolism
Siyu Sun, Siqian Gong, Meng Li, Xirui Wang, Fang Wang, Xiaoling Cai, Wei Liu, Yingying Luo, Simin Zhang, Rui Zhang, Lingli Zhou, Yu Zhu, Yumin Ma, Qian Ren, Xiuying Zhang, Jing Chen, Ling Chen, Jing Wu, Leili Gao, Xianghai Zhou, Yufeng Li, Liyong Zhong, Xueyao Han, Linong Ji
Summary: This study aims to summarize the genetic and clinical characteristics of CEL-MODY patients and determine its prevalence in Chinese early-onset type 2 diabetes patients. CEL-MODY is a very rare disease caused by frameshift mutations in the CEL gene. Signs of exocrine pancreatic dysfunction are diagnostic clues for CEL-MODY, and genetic testing is crucial for accurate diagnosis.
Article
Medicine, General & Internal
Tomomi Kondoh, Yoko Nakajima, Katsuyuki Yokoi, Yuji Matsumoto, Hidehito Inagaki, Takema Kato, Yoichi Nakajima, Tetsuya Ito, Tetsushi Yoshikawa, Hiroki Kurahashi
Summary: Maturity-onset diabetes of the young (MODY) is a rare form of diabetes characterized by familial inheritance and mutations in the CEL gene. This case study highlights the fluctuating insulin secretion capacity in a patient, leading to suspicion of MODY.
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE
(2022)
Review
Medicine, General & Internal
Nishith M. Ekka, Archana D. Kujur, Rishi Guria, Mrityunjay Mundu, Brajesh Mishra, Sulakshana Sekhar, Amit Kumar, Jay Prakash, Hirendra Birua
Summary: An L/A ratio of more than 3 can be used to differentiate alcoholic pancreatitis from non-alcoholic pancreatitis. A systematic literature review identified 9 studies with 1825 patients, and the SROC curve had an estimated area under the curve of 0.75. Pooled estimates showed a sensitivity of 74% and specificity of 63%. The conclusion is that an L/A ratio of more than 3 has moderate accuracy for the diagnosis of alcoholic pancreatitis.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Medicine, General & Internal
Engin Kose, Elcin Cagatay, Tutku Yaras, Pelin Teke Kisa, Seminay Guler, Zumrut Arslan Gulten, Mesut Akarsu, Yavuz Oktay, Hulya Ayar Kayali, Nur Arslan
Summary: This study found a significant decrease in LAL activity in patients with cirrhosis. LAL activity level may be an important parameter for assessing the severity of cirrhosis.
TURKISH JOURNAL OF MEDICAL SCIENCES
(2022)
Article
Criminology & Penology
Laura J. Brown, Hattie Lowe, Andrew Gibbs, Colette Smith, Jenevieve Mannell
Summary: This study examines IPV risk contexts in different countries globally and identifies three distinct risk contexts, which are associated with country income classification. The findings suggest that in addition to gender norms, a history of colonialism is also associated with IPV.
JOURNAL OF INTERPERSONAL VIOLENCE
(2023)
Article
Pharmacology & Pharmacy
Roseann S. Gammal, Munir Pirmohamed, Andrew A. Somogyi, Sarah A. Morris, Christine M. Formea, Amanda L. Elchynski, Kazeem A. Oshikoya, Howard L. McLeod, Cyrine E. Haidar, Michelle Whirl-Carrillo, Teri E. Klein, Kelly E. Caudle, Mary Relling
Summary: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with the development of acute hemolytic anemia in the presence of oxidative stress. This guideline provides information on using G6PD genotype for diagnosing G6PD deficiency and categorizes medications based on their risk level in individuals with G6PD deficiency. High-risk medications should be avoided, medium-risk medications should be used with caution, and low-risk medications can be used without considering the G6PD phenotype.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Pharmacology & Pharmacy
Muhammed Shiraz Moosa, Giusy Russomanno, Jeffrey R. Dorfman, Hannah Gunter, Chandni Patel, Eithne Costello, Dan Carr, Gary Maartens, Munir Pirmohamed, Christopher Goldring, Karen Cohen
Summary: This study investigated the concentrations of miR-122 in participants with antituberculosis drug-induced liver injury (AT-DILI) and its correlation with alanine aminotransferase (ALT) concentrations. The study found that miR-122 concentrations in AT-DILI patients were significantly higher than those in healthy volunteers and in patients on antituberculosis therapy without liver injury, and N-acetylcysteine (NAC) had no effect on miR-122 concentrations.
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
(2023)
Article
Pharmacology & Pharmacy
Tjeerd Pieter van Staa, Munir Pirmohamed, Anita Sharma, Iain Buchan, Darren M. Ashcroft
Summary: This study evaluated drug-drug interactions (DDIs) between antibiotics and nonantibiotic drugs listed with warnings of severe outcomes in the British National Formulary. The results showed no substantial risk of DDIs despite the warnings in the national formulary.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Surgery
Victoria K. Proctor, Olivia M. O'Connor, Flora A. Burns, Susie Green, Adele E. Sayers, Deborah J. Hawkins, Neil J. Smart, Matthew J. Lee
Summary: This study aimed to report the rates of surgical site infection (SSI) following repair of acutely symptomatic hernias, as well as explore the use of patient-reported outcome measures. The results showed that SSI is common in this type of surgery and is associated with BMI and the location of the hernia.
Article
Medicine, General & Internal
Maribel Aranda-Guillen, Ellen Christine Royrvik, Sara Fletcher-Sandersjoo, Haydee Artaza, Ileana Ruxandra Botusan, Marianne A. Grytaas, Asa Hallgren, Lars Breivik, Maria Pettersson, Anders P. Jorgensen, Anna Lindstrand, Elinor Vogt, Eystein S. Husebye, Olle Kampe, Anette S. Boe Wolff, Sophie Bensing, Stefan Johansson, Daniel Eriksson
Summary: By constructing and evaluating a polygenic risk score (PRS) for autoimmune Addison's disease (AAD), the study explores the pathogenesis of primary adrenal insufficiency (PAI) in pediatric patients. The PRS can effectively differentiate cases from controls and estimate susceptibility in individual patients. The PRS shows promise as a clinical tool to detect disease etiologies other than autoimmunity.
JOURNAL OF INTERNAL MEDICINE
(2023)
Article
Genetics & Heredity
Pol Sole-Navais, Christopher Flatley, Valgerdur L. Steinthorsdottir, Marc Vaudel, Julius Juodakis, Jing Chen, Triin Laisk, Abigail C. LaBella, David Westergaard, Jonas Bacelis, Ben Brumpton, Line Skotte, Maria Borges, Oyvind A. Helgeland, Anubha Mahajan, Matthias N. Wielscher, Frederick P. Lin, Catherine Briggs, Carol Wang, Gunn-Helen E. Moen, Robin R. Beaumont, Jonathan Bradfield, Abin A. Abraham, Gudmar Thorleifsson, Maiken Gabrielsen, Sisse Ostrowski, Dominika Modzelewska, Ellen M. Nohr, Elina Hypponen, Amit M. Srivastava, Octavious Talbot, Catherine Allard, Scott Williams, Ramkumar Menon, Beverley Shields, Gardar Sveinbjornsson, Huan B. Xu, Mads F. Melbye, William Lowe, Luigi Bouchard, Emily I. Oken, Ole I. Pedersen, Daniel T. Gudbjartsson, Christian Erikstrup, Erik Sorensen, Rolv Lie, Kari Teramo, Mikko T. Hallman, Thorhildur Juliusdottir, Hakon Hakonarson, Henrik L. Ullum, Andrew Hattersley, Line Sletner, Mario Merialdi, Sheryl Rifas-Shiman, Thora Steingrimsdottir, Denise A. Scholtens, Christine H. Power, Jane West, Mette A. Nyegaard, John Capra, Anne Skogholt, Per Magnus, Ole E. Andreassen, Unnur Thorsteinsdottir, Struan F. A. M. Grant, Elisabeth Qvigstad, Craig I. Pennell, Marie-France A. Hivert, Geoffrey M. Hayes, Marjo-Riitta Jarvelin, Mark I. McCarthy, Deborah Lawlor, Henriette Nielsen, Reedik Maegi, Antonis Rokas, Kristian Hveem, Kari J. Stefansson, Bjarke M. Feenstra, Pal Njolstad, Louis Muglia, Rachel Freathy, Stefan Johanson, Ge Zhang, Bo Jacobsson
Summary: The study conducted a meta-analysis and identified genetic variants associated with gestational duration and preterm delivery. It revealed the importance of maternal alleles in influencing gestational duration and the complex relationship between gestational duration and birth weight. The study also identified antagonistic pleiotropy, where maternal alleles that increase gestational duration have negative effects on birth weight.
Article
Public, Environmental & Occupational Health
Jenevieve Mannell, Laura Washington, Sivuyile Khaula, Zamakhoza Khoza, Smanga Mkhwanazi, Rochelle A. Burgess, Laura J. Brown, Rachel Jewkes, Nwabisa Shai, Samantha Willan, Andrew Gibbs
Summary: Coproduction is vital for effective and sustainable health interventions. Four methods to improve coproduction practice are identified: building trust, involving end users in data interpretation, embracing conflicts, and challenging research strategies. Coproduction should be seen as a complex intervention, with research teams as potential beneficiaries.
Article
Surgery
George S. Bethell, Clare M. Rees, Jonathan Sutcliffe, Nigel J. Hall
Summary: This is a prospective multicentre observational study comparing operative to non-operative management of children treated for uncomplicated appendicitis in the UK and Ireland. The study found that operative treatment was associated with higher odds of complications, while non-operative management had lower odds of certain complications. Non-operative management is a safe and valid alternative to appendicectomy for children with uncomplicated appendicitis.
Review
Geriatrics & Gerontology
Eve Braithwaite, Oliver M. Todd, Abigail Atkin, Rachel Hulatt, Ragy Tadrous, David P. Alldred, Munir Pirmohamed, Lauren Walker, Rebecca Lawton, Andrew Clegg
Summary: A systematic review with meta-analysis was conducted to examine interventions aimed at reducing anticholinergic burden in older adults. The results showed no significant difference in outcomes between control and intervention group for falls, cognition, anticholinergic burden, or quality of life. Short follow-up time and lack of training and support surrounding successful deprescribing may have contributed to these results.
Article
Endocrinology & Metabolism
Pernille Svalastoga, Alba Kaci, Janne Molnes, Marie H. Solheim, Bente B. Johansson, Lars Krogvold, Torild Skrivarhaug, Eivind Valen, Stefan Johansson, Anders Molven, Jorn V. Sagen, Eirik Softeland, Lise Bjorkhaug, Erling Tjora, Ingvild Aukrust, Pal R. Njolstad
Summary: Combining clinical phenotyping with functional protein studies provides a powerful tool for obtaining an accurate diagnosis of HNF1A-MODY.
Article
Pharmacology & Pharmacy
Victoria Rollinson, Neil French, Richard Turner, Munir Pirmohamed
Summary: This study aimed to assess the current educational status of pharmacogenomics within the UK pharmacy profession and identify future educational and infrastructure needs of pharmacists. A survey was conducted among practicing pharmacists, preregistration pharmacists, and MPharm students. The findings indicate the need for further education and the development of PGx guidelines to prepare the pharmacy workforce for PGx implementation.
JOURNAL OF CLINICAL PHARMACY AND THERAPEUTICS
(2023)
Article
Multidisciplinary Sciences
Sebastian Beer, Jonas Babel, Neef Martin, Valentin Blank, Johannes Wiegand, Thomas Karlas
Summary: Fatty liver diseases, especially metabolic dysfunction-associated fatty liver disease, are becoming increasingly important for patients and healthcare providers. The underlying pathophysiological links between fatty liver disease and coronary artery disease are not fully understood.
Article
Gastroenterology & Hepatology
Brian Ho, Andrew Thompson, Andrea L. Jorgensen, Munir Pirmohamed
Summary: This study assessed the utility of the fatty liver index (FLI) for risk stratification of non-alcoholic fatty liver disease (NAFLD) and associated comorbidities. The results showed that FLI can effectively identify the risk of NAFLD and related comorbidities, including cardiovascular metabolic diseases and malignant tumors, and is closely associated with all-cause mortality risk.
Article
Biochemical Research Methods
Luis Francisco Hernandez Sanchez, Bram Burger, Rodrigo Alexander Castro Campos, Stefan Johansson, Pal Rasmus Njolstad, Harald Barsnes, Marc Vaudel
Summary: This study uses Reactome pathway database to build biological networks and investigates the impact of different topological representations on the network structure. The results show that improving the modeling increases the number of nodes and interactions, but annotation of isoforms and post-translational modifications is still limited. It is also found that small molecule information can distort the network topology, but restricting the connections to biochemical reactions improves the overall connectivity.