Article
Clinical Neurology
Jasodhara Chaudhuri, Samar Biswas, Goutam Gangopadhyay, Tamoghna Biswas, Jyotishka Datta, Atanu Biswas, Alak Pandit, Amlan Kusum Datta, Adreesh Mukherjee, Atanu Kumar Dutta, Paramita Bhattacharya, Avijit Hazra
Summary: The study aimed to correlate genotype with clinical and radiological features in Indian WD patients. The most important features for predicting common mutation were revealed by statistical methods, but further studies are needed for a better understanding of the genetic landscape of Wilson disease.
ACTA NEUROLOGICA BELGICA
(2022)
Article
Genetics & Heredity
Santanu Das, Ameena Mohammed, Taniya Mandal, Saptarshi Maji, Jay Verma, Ruturaj, Arnab Gupta
Summary: Mutation in ATP7B gene can cause Wilson disease (WD), and some mutations can affect the localization and transport function of the protein, leading to different clinical manifestations.
Article
Biology
Michael N. Weiss, Daniel W. Franks, Deborah A. Giles, Sadie Youngstrom, Samuel K. Wasser, Kenneth C. Balcomb, David K. Ellifrit, Paolo Domenici, Michael A. Cant, Samuel Ellis, Mia L. K. Nielsen, Charli Grimes, Darren P. Croft
Summary: The study on southern resident killer whales reveals that interactions between associated individuals are not random, and that age and sex can influence social network structures. Females and young individuals show higher centrality within the contact network, suggesting parallels with social bond formation in primates and other terrestrial social mammals.
PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2021)
Article
Gastroenterology & Hepatology
Mingming Li, Jing Ma, Wenlong Wang, Xu Yang, Kaizhong Luo
Summary: In this study, three novel mutations were identified in 103 WD patients from southern China, enriching the mutational spectrum of the ATP7B gene. The most common mutations were c.2333G>T (p.Arg778 Leu) and c.2975C>T (p.Pro992Leu), with allelic frequencies of 28.6% and 13.0%, respectively. Phenotype-genotype correlation analysis revealed significant associations between certain mutations and clinical characteristics of WD, providing insights into the population genetics of WD in China.
BMC GASTROENTEROLOGY
(2021)
Article
Pediatrics
Aabha Nagral, Snehal Mallakmir, Nikita Garg, Kritika Tiwari, Suzena Masih, Nishtha Nagral, Ojas Unavane, Ajay Jhaveri, Shubha Phadke, GaneshPrasad ArunKumar, Rakesh Aggarwal
Summary: This study reports genotype data of Wilson disease patients from India, adding to the available spectrum of causative variants in ATP7B gene. It also found genetic and phenotypic diversity in the Indian population.
INDIAN JOURNAL OF PEDIATRICS
(2023)
Article
Genetics & Heredity
Lihua Wu, Jianhong Wang, Lei Wang, Qi Xu, Bo Zhou, Zhen Zhang, Qi Li, Hui Wang, Lu Han, Qian Jiang, Lin Wang
Summary: This study provides detailed knowledge about the clinical manifestations, genetic spectrum, and physical, language, neurodevelopment features and genotype-phenotype correlations of Chinese patients with Mowat-Wilson syndrome (MWS). The study found that all patients had lower height and weight, and some had microcephaly. Patients performed better in cognitive play and social communication than in receptive and expressive language.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Eduardo Couchonnal, Sophie Bouchard, Thomas Damgaard Sandahl, Cecile Pagan, Laurence Lion-Francois, Olivier Guillaud, Dalila Habes, Dominique Debray, Thierry Lamireau, Pierre Broue, Alexandre Fabre, Claire Vanlemmens, Rodolphe Sobesky, Frederic Gottrand, Laure Bridoux-Henno, Abdelouahed Belmalih, Aurelia Poujois, Anne Sophie Brunet, Alain Lachaux, Muriel Bost
Summary: The spectrum of ATP7B variants in the French population showed significant heterogeneity, with p.His1069Gln being the most prevalent variant at 14.2%. Exons 14, 8, and 2 accounted for 41.7% of total variants. Nonsense/Frameshift variants were found to be associated with lower levels of ceruloplasmin.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2021)
Article
Engineering, Electrical & Electronic
Nived Rajaraman, Rahul Vaze, Goonwanth Reddy
Summary: A versatile scheduling problem, called the age and quality of information (AQI), is considered to model a tradeoff between age of information, quality/distortion, and energy transmission cost. A greedy algorithm and a maximum weight matching based algorithm are shown to be 2-competitive for the AQI problem.
IEEE JOURNAL ON SELECTED AREAS IN COMMUNICATIONS
(2021)
Article
Medicine, General & Internal
Matthias Van Gils, Justin Depauw, Paul J. J. Coucke, Shari Aerts, Shana Verschuere, Lukas Nollet, Olivier M. M. Vanakker
Summary: Pseudoxanthoma elasticum (PXE) is a rare calcification disorder caused by ABCC6 mutations. Reduced levels of PPi were found in PXE patients and carriers, but it is not a predictive biomarker for disease severity and progression.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Geriatrics & Gerontology
Alexander L. M. Siegel, Teal S. Eich
Summary: A study found that age-related declines in memory inhibitory ability are more pronounced in older women, especially when suppressing information actively held in working memory. This suggests that biological sex plays an important role as a mediator in the relationship between age and memory inhibition.
JOURNALS OF GERONTOLOGY SERIES B-PSYCHOLOGICAL SCIENCES AND SOCIAL SCIENCES
(2021)
Article
Multidisciplinary Sciences
Laura Carman, Thor Besier, N. Susan Stott, Julie Choisne
Summary: Torsional, angular, and linear measurements in paediatric population are not well defined. From a large dataset of pediatric CT scans, we observed sex differences in linear measurements in bones of children aged 13+, while femoral and tibial torsion were similar between males and females. This dataset can be used as an atlas for researchers and clinicians to understand typical development of critical rotational profiles and linear bone measurements in children.
SCIENTIFIC REPORTS
(2023)
Article
Chemistry, Applied
Xiaowei Zhang, Jianhua Xie, Tingting Chen, Dongdong Ma, Tianming Yao, Fangting Gu, Jongbin Lim, Mitchell R. Tuinstra, Bruce R. Hamaker
Summary: The study reveals a high specificity of fiber structure to gut bacteria use and short chain fatty acid production, with different genotype-specific effects on gut microbiota and SCFA profiles.
CARBOHYDRATE POLYMERS
(2021)
Article
Multidisciplinary Sciences
Jason Ioannidis, Gunes Taylor, Debiao Zhao, Long Liu, Alewo Idoko-Akoh, Daoqing Gong, Robin Lovell-Badge, Silvana Guioli, Mike J. McGrew, Michael Clinton
Summary: In birds, sex determination is thought to depend on a sex chromosome gene dosage mechanism, with the gene DMRT1 playing a key role. Experiments showed that ZZ chickens lacking DMRT1 developed ovaries instead of testes, while blocking estrogen synthesis in ZW embryos led to testis development, highlighting the interconnected roles of DMRT1 and estrogen in avian sex determination.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Agronomy
Kendall K. K. Beals, Sarah L. L. Lebeis, Joseph K. K. Bailey, Jennifer A. A. Schweitzer
Summary: The taxonomic and functional composition of soil microbial communities have varying effects on plant phenotypes, depending on plant traits and species. This study highlights the association between specific microbial taxa and shifts in plant phenotype.
Article
Genetics & Heredity
Victor Faundes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Bjornsson, Lisa Bradley, Angela F. Brady, Elise Brischoux-Boucher, Han Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, Maria Cristina Digilio, Frances Elmslie, Andrew E. Fry, Harinder Gill, Jane Hurst, Diana Johnson, Sophie Julia, Katherine Lachlan, Robert Roger Lebel, Melissa Byler, Eric Gershon, Edmond Lemire, Maria Gnazzo, Francesca Romana Lepri, Antonia Marchese, Meriel McEntagart, Julie McGaughran, Seiji Mizuno, Nobuhiko Okamoto, Claudine Rieubland, Jonathan Rodgers, Erina Sasaki, Emmanuel Scalais, Ingrid Scurr, Mohnish Suri, Ineke van der Burgt, Naomichi Matsumoto, Noriko Miyake, Valerie Benoit, Damien Lederer, Siddharth Banka
Summary: The study revealed that clinical features common in KS2 patients include neonatal feeding difficulties, hypoglycemia, postnatal growth retardation, intellectual disability, microcephaly, congenital heart anomalies, among others. Males were more likely to be born prematurely, have shorter stature, and experience severe developmental delay/ID.
GENETICS IN MEDICINE
(2021)
Review
Gastroenterology & Hepatology
Ferenci Peter, Reiberger Thomas, Stadlbauer Vanessa, Zoller Heinz
Summary: The introduction of Hepatitis B Immunoglobulins (HBIg) prophylaxis has improved long-term survival for liver transplant patients with chronic hepatitis B virus (HBV) infection. However, it is unclear whether long-term HBIg prophylaxis is necessary for patients co-infected with hepatitis D virus (HDV) and HBV.
LIVER INTERNATIONAL
(2023)
Editorial Material
Pediatrics
Massimo Pettoello-Mantovani, Tudor Lucian Pop, Ida Giardino, Mehmet Vural, Pietro Ferrara, Eli Somekh
JOURNAL OF PEDIATRICS
(2023)
Letter
Gastroenterology & Hepatology
Mathias Jachs, Thomas Reiberger, Peter Ferenci
ALIMENTARY PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Gastroenterology & Hepatology
Berivan Gurbuz, Nurdan Guldiken, Philipp Reuken, Lei Fu, Katharina Remih, Christian Preisinger, Radan Bruha, Martin Lenicek, Jaromir Petrtyl, Johanna Reissing, Mahmoud Aly, Malin Fromme, Biaohuan Zhou, Isabel Karkossa, Kristin Schubert, Martin von Bergen, Andreas Stallmach, Tony Bruns, Pavel Strnad
Summary: This study aimed to characterize changes in hepatocellular serum proteins and evaluate their diagnostic value in cirrhosis. Untargeted proteomic analysis of serum from 29 healthy controls and 43 patients with cirrhosis revealed 65 downregulated and 16 upregulated proteins in cirrhosis patients. Hierarchical clustering identified two main clusters and six sub-clusters. The study also found that serum apolipoprotein AI may be a useful prognostic marker in patients with decompensated cirrhosis.
HEPATOLOGY INTERNATIONAL
(2023)
Editorial Material
Pediatrics
Massimo Pettoello-Mantovani, Tudor Lucian Pop, Ida Giardino, Mehmet Vural, Flavia Indrio, Pietro Ferrara
JOURNAL OF PEDIATRICS
(2023)
Article
Gastroenterology & Hepatology
Katerina Zizalova, Barbora Novakova, Marek Vecka, Jaromir Petrtyl, Vera Lanska, Kveta Pelinkova, Vaclav Smid, Radan Bruha, Libor Vitek, Martin Lenicek
Summary: The study suggests that taurochenodeoxycholic acid (TCDCA) may be a promising noninvasive marker of clinically significant portal hypertension. Its predictive potential may be further enhanced when combined with the AST/ALT ratio and spleen diameter.
LIVER INTERNATIONAL
(2023)
Article
Biochemistry & Molecular Biology
Louis C. Penning, Marina Berenguer, Anna Czlonkowska, Kay L. Double, Petr Dusek, Carmen Espinos, Svetlana Lutsenko, Valentina Medici, Wiebke Papenthin, Wolfgang Stremmel, Jose Willemse, Ralf Weiskirchen
Summary: Wilson disease is a rare inherited metabolic disorder with diverse clinical presentations affecting the liver, neurological system, psychiatric status, and vision, often in combination. Mutations in the ATP7B gene lead to copper accumulation in hepatocytes and/or neurons, making clinical diagnosis challenging. Diagnosis is complicated by mild and non-specific manifestations, mutations with unclear effects on protein function, and ambiguous laboratory tests, particularly concerning serum ceruloplasmin levels. Establishing a global collaboration of researchers, clinicians, and patient advocacy groups is crucial for identifying and addressing the outstanding challenges of Wilson disease.
Article
Biochemistry & Molecular Biology
Claudia Sirbe, Medeea Badii, Tania O. Crisan, Gabriel Benta, Alina Grama, Leo A. B. Joosten, Simona Rednic, Tudor Lucian Pop
Summary: Autoimmune hepatitis (AIH) is an immune-mediated liver disease that causes inflammation, liver failure, and fibrosis. This study analyzed the proteomic profiling data of pediatric AIH patients and controls and identified 16 proteins with significantly different abundance in AIH patients, which could potentially serve as biomarkers for AIH.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Editorial Material
Pediatrics
Donjeta Bali, Maria Pastore, Flavia Indrio, Ida Giardino, Mehmet Vural, Clara Pettoello-Mantovani, Tudor Lucian Pop, Massimo Pettoello-Mantovani
JOURNAL OF PEDIATRICS
(2023)
Editorial Material
Pediatrics
Luigi Nigri, Angel Carrasco-Sanz, Tudor Lucian Pop, Ida Giardino, Mehmet Vural, Pietro Ferrara, Flavia Indrio, Massimo Pettoello-Mantovani
JOURNAL OF PEDIATRICS
(2023)
Editorial Material
Pediatrics
Donjeta Bali, Mehmet Vural, Tudor Lucian Pop, Angel Carrasco-Sanz, Ida Giardino, Maria Pastore, Massimo Pettoello-Mantovani
JOURNAL OF PEDIATRICS
(2023)
Review
Immunology
Alina Grama, Alexandra Mititelu, Claudia Sirbe, Gabriel Benta, Tudor Lucian Pop
Summary: Cholangiopathies are characterized by damage to the bile ducts, which can be caused by immune-mediated, genetic, infectious, and other factors. Immune-mediated cholangiopathies, such as primary sclerosing cholangitis and autoimmune cholangitis, have similarities in clinical and histopathological manifestations, making it difficult to distinguish them. Understanding the mechanisms and pathophysiology of immune cholangiopathies can lead to better treatments and prevention strategies.
FRONTIERS IN IMMUNOLOGY
(2023)
Editorial Material
Gastroenterology & Hepatology
LANCET GASTROENTEROLOGY & HEPATOLOGY
(2023)
Review
Pediatrics
Francesca Casini, Francesca Scaltrito, Maria Teresa Grimaldi, Tudor Lucian Pop, Valeria Calcaterra, Gian Vincenzo Zuccotti, Massimo Pettoello-Mantovani, Pietro Ferrara, Giovanni Corsello, Valentina Fabiano
Summary: This article reviews the epidemiology, efficacy, and safety of complementary and alternative medicine (CAM) in pediatric oncology, neurology, and hepatology. CAM is used to improve the success of conventional therapies and alleviate the pain and discomfort caused by the diseases and their treatment.
ITALIAN JOURNAL OF PEDIATRICS
(2023)
Correction
Pediatrics
Massimo Pettoello-Mantovani, Tudor Lucian Pop, Ida Giardino, Mehmet Vural, Pietro Ferrara, Eli Somekh
JOURNAL OF PEDIATRICS
(2023)