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JOURNAL ARTICLE
Jonas Ghouse, Gardar Sveinbjörnsson, Marijana Vujkovic, Anne-Sofie Seidelin, Helene Gellert-Kristensen, Gustav Ahlberg, Vinicius Tragante, Søren A Rand, Joseph Brancale, Silvia Vilarinho, Pia Rengtved Lundegaard, Erik Sørensen, Christian Erikstrup, Mie Topholm Bruun, Bitten Aagaard Jensen, Søren Brunak, Karina Banasik, Henrik Ullum, Niek Verweij, Luca Lotta, Aris Baras, Tooraj Mirshahi, David J Carey, David E Kaplan, Julie Lynch, Timothy Morgan, Tae-Hwi Schwantes-An, Daniel R Dochtermann, Saiju Pyarajan, Philip S Tsao, Triin Laisk, Reedik Mägi, Julia Kozlitina, Anne Tybjærg-Hansen, David Jones, Kirk U Knowlton, Lincoln Nadauld, Egil Ferkingstad, Einar S Björnsson, Magnus O Ulfarsson, Árni Sturluson, Patrick Sulem, Ole B Pedersen, Sisse R Ostrowski, Daniel F Gudbjartsson, Kari Stefansson, Morten Salling Olesen, Kyong-Mi Chang, Hilma Holm, Henning Bundgaard, Stefan Stender
We report a multi-ancestry genome-wide association study on liver cirrhosis and its associated endophenotypes, alanine aminotransferase (ALT) and γ-glutamyl transferase. Using data from 12 cohorts, including 18,265 cases with cirrhosis, 1,782,047 controls, up to 1 million individuals with liver function tests and a validation cohort of 21,689 cases and 617,729 controls, we identify and validate 14 risk associations for cirrhosis. Many variants are located near genes involved in hepatic lipid metabolism...
April 17, 2024: Nature Genetics
#22
JOURNAL ARTICLE
Shunichi Kosugi, Chikashi Terao
Short- and long-read sequencing technologies are routinely used to detect DNA variants, including SNVs, indels, and structural variations (SVs). However, the differences in the quality and quantity of variants detected between short- and long-read data are not fully understood. In this study, we comprehensively evaluated the variant calling performance of short- and long-read-based SNV, indel, and SV detection algorithms (6 for SNVs, 12 for indels, and 13 for SVs) using a novel evaluation framework incorporating manual visual inspection...
April 17, 2024: Human Genome Variation
#23
JOURNAL ARTICLE
Mitsuhiro Irie, Chiaki Kita, Tetsushi Yamagami, Takuma Miyoshi, Naoyuki Fujiki, Yuko Kuriyagawa, Yasuko Hanafusa, James Kenn Chambers, Kazuyuki Uchida
Pus discharge containing black granular materials (1-2 mm in diameter) was found in the abdominal skin of a 13-year-old sterilized female cat. Abdominal ultrasonography revealed a large intra-abdominal mass with abundant blood flow beneath the skin lesion. Laparotomy revealed a large mass that adhered to the spleen and left kidney. Similar small lesions were found in the abdominal wall and mesentery. The masses were surgically removed along with the spleen and kidney. Histopathologically, the mass lesions consisted of granulomas with lesional pigmented fungi, and the cat was diagnosed with phaeohyphomycosis...
April 16, 2024: Journal of Veterinary Medical Science
#24
JOURNAL ARTICLE
Kathryn A W Knight, Catriona Barbour-Hastie, Angus Gane, Jonathan O'Riordan
A man in his 30s was referred to neurology with right-sided paraesthesia, tremors, chest pain and lower urinary tract and erectile dysfunction. He had a medical history of left acetabular dysplasia, and subjective memory impairment, the latter being in the context of depression and chronic pain with opioid use. There was no notable family history. On examination, he had a spastic paraparesis. Imaging revealed atrophy of the thoracic spine. Lumbar puncture demonstrated a raised protein but other constituents were normal, including no presence of oligoclonal bands...
April 17, 2024: BMJ Case Reports
#25
JOURNAL ARTICLE
Rebecca R Valentino, William J Scotton, Shanu F Roemer, Tammaryn Lashley, Michael G Heckman, Maryam Shoai, Alejandro Martinez-Carrasco, Nicole Tamvaka, Ronald L Walton, Matthew C Baker, Hannah L Macpherson, Raquel Real, Alexandra I Soto-Beasley, Kin Mok, Tamas Revesz, Elizabeth A Christopher, Michael DeTure, William W Seeley, Edward B Lee, Matthew P Frosch, Laura Molina-Porcel, Tamar Gefen, Javier Redding-Ochoa, Bernardino Ghetti, Andrew C Robinson, Christopher Kobylecki, James B Rowe, Thomas G Beach, Andrew F Teich, Julia L Keith, Istvan Bodi, Glenda M Halliday, Marla Gearing, Thomas Arzberger, Christopher M Morris, Charles L White, Naguib Mechawar, Susana Boluda, Ian R MacKenzie, Catriona McLean, Matthew D Cykowski, Shih-Hsiu J Wang, Caroline Graff, Rashed M Nagra, Gabor G Kovacs, Giorgio Giaccone, Manuela Neumann, Lee-Cyn Ang, Agostinho Carvalho, Huw R Morris, Rosa Rademakers, John A Hardy, Dennis W Dickson, Jonathan D Rohrer, Owen A Ross
BACKGROUND: Pick's disease is a rare and predominantly sporadic form of frontotemporal dementia that is classified as a primary tauopathy. Pick's disease is pathologically defined by the presence in the frontal and temporal lobes of Pick bodies, composed of hyperphosphorylated, three-repeat tau protein, encoded by the MAPT gene. MAPT has two distinct haplotypes, H1 and H2; the MAPT H1 haplotype is the major genetic risk factor for four-repeat tauopathies (eg, progressive supranuclear palsy and corticobasal degeneration), and the MAPT H2 haplotype is protective for these disorders...
May 2024: Lancet Neurology
#26
JOURNAL ARTICLE
Kendall Ansley Alsup, Jessica L Pearson, Andrew Bowe, Padmashree Woodham
OBJECTIVE: This study aimed to develop an algorithm for pediatricians to use for infants diagnosed with fetal echogenic bowel (FEB) to ensure that each patient is fully evaluated for possible complications while avoiding unnecessary morbidity and mortality and healthcare associated costs. STUDY DESIGN: This was a prospective cohort of neonates for which a diagnosis of FEB was made during a Level 2 anatomy ultrasound between February 2016 and January 2017. Women diagnosed with FEB were offered perinatal genetic counseling and testing...
April 17, 2024: American Journal of Perinatology
#27
JOURNAL ARTICLE
Ana C Zamora, Lewis J Wesselius, Michael B Gotway, Henry D Tazelaar, Alejandro Diaz-Arumir, Vivek Nagaraja
Interstitial lung disorders are a group of respiratory diseases characterized by interstitial compartment infiltration, varying degrees of infiltration, and fibrosis, with or without small airway involvement. Although some are idiopathic (e.g., idiopathic pulmonary fibrosis, idiopathic interstitial pneumonias, and sarcoidosis), the great majority have an underlying etiology, such as systemic autoimmune rheumatic disease (SARD, also called Connective Tissue Diseases or CTD), inhalational exposure to organic matter, medications, and rarely, genetic disorders...
April 17, 2024: Seminars in Respiratory and Critical Care Medicine
#28
JOURNAL ARTICLE
Shaotong Zhao, Chunzi Lyu, Yingbo Liu, Xiyao Wang, Zhaowen Zhang, Hong Lv, Tianxiang Ni, Junhao Yan
No abstract text is available yet for this article.
April 17, 2024: Chinese Medical Journal
#29
JOURNAL ARTICLE
Chloe Alexandre, Giulia Miracca, Victor Duarte Holanda, Ashley Sharma, Kamila Kourbanova, Ashley Ferreira, Maíra A Bicca, Xiangsunze Zeng, Victoria A Nassar, Seungkyu Lee, Satvinder Kaur, Sridevi V Sarma, Pierre Sacré, Thomas E Scammell, Clifford J Woolf, Alban Latremoliere
Spontaneous pain, a major complaint of patients with neuropathic pain, has eluded study because there is no reliable marker in either preclinical models or clinical studies. Here, we performed a comprehensive electroencephalogram/electromyogram analysis of sleep in several mouse models of chronic pain: neuropathic (spared nerve injury and chronic constriction injury), inflammatory (Freund's complete adjuvant and carrageenan, plantar incision) and chemical pain (capsaicin). We find that peripheral axonal injury drives fragmentation of sleep by increasing brief arousals from non-rapid eye movement sleep (NREMS) without changing total sleep amount...
April 17, 2024: Science Translational Medicine
#30
JOURNAL ARTICLE
Flory L Nkoy, Bryan L Stone, Yue Zhang, Gang Luo
Inhaled corticosteroid (ICS) is a mainstay treatment for controlling asthma and preventing exacerbations in patients with persistent asthma. Many types of ICS drugs are used, either alone or in combination with other controller medications. Despite the widespread use of ICSs, asthma control remains suboptimal in many people with asthma. Suboptimal control leads to recurrent exacerbations, causes frequent ER visits and inpatient stays, and is due to multiple factors. One such factor is the inappropriate ICS choice for the patient...
April 17, 2024: JMIR Medical Informatics
#31
REVIEW
Jillian Pecoriello, Anna- Grace Lilly, Dona Jalili, Clarisa Mendoza, Gwendolyn P Quinn, Christina A Penfield
PURPOSE: The purpose of this narrative review was to assess the limited literature on fetal anomalies diagnosed in the second trimester of pregnancy and parental decision-making and identify sources of information deemed as facilitators and barriers to medical decisions. METHODS: This was a literature review of source material and information about fetal anomalies diagnosed in the second trimester of pregnancy, decision-making, decision tools or aids, and sources of information for anomalies...
April 17, 2024: Journal of Assisted Reproduction and Genetics
#32
JOURNAL ARTICLE
Isabel Jimenez-Alcantara, Estefania Lozano-Velasco, Sheila Caño-Carrillo, Juan Manuel Castillo-Casas, Ana Belen Garcia-Ruano, Jose Maria Segura-Aumente, Jose Angel Urbano-Moral, Diego Franco
No abstract text is available yet for this article.
April 17, 2024: Journal of Cardiovascular Translational Research
#33
JOURNAL ARTICLE
Xiaoshen Zhang, Xuanhe Wang, Yaokai Wen, Shen Chen, Caicun Zhou, Fengying Wu
BACKGROUND: Recurrent malignant pleural effusion (MPE) resulting from non-small-cell lung cancer (NSCLC) is easily refractory to conventional therapeutics and lacks predictive markers. The cellular or genetic signatures of recurrent MPE still remain largely uncertain. METHODS: 16 NSCLC patients with pleural effusions were recruited, followed by corresponding treatments based on primary tumours. Non-recurrent or recurrent MPE was determined after 3-6 weeks of treatments...
April 2024: Clinical and Translational Medicine
#34
JOURNAL ARTICLE
Helga Elidottir, Selma R Bjarnadottir, Olafur Baldursson, Brynja Jonsdottir
BACKGROUND: Cystic fibrosis (CF) is most common in populations of Northern European ancestry where the F508del variant predominates. In 2020, Iceland became a member of the European Cystic Fibrosis Society Patient Registry, and we launched an epidemiological study of CF in Iceland. The study aimed to determine the prevalence and the genetic variants present in the country. Furthermore, we aimed to describe the previous and the current situation regarding lung function, infections, complications, treatment, and follow-up to understand the strengths and weaknesses of CF care in Iceland...
April 17, 2024: Pediatric Pulmonology
#35
JOURNAL ARTICLE
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Duyzend, Peter N Robinson, Damian Smedley
PURPOSE: Existing resources that characterise the essentiality status of genes are based on either proliferation assessment in human cell lines, viability evaluation in mouse knockouts, or constraint metrics derived from human population sequencing studies. Several repositories document phenotypic annotations for rare disorders, however there is a lack of comprehensive reporting on lethal phenotypes. METHODS: We queried Online Mendelian Inheritance in Man for terms related to lethality and classified all Mendelian genes according to the earliest age of death recorded for the associated disorders, from prenatal death to no reports of premature death...
April 13, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#36
JOURNAL ARTICLE
Minal Narkhede, Avinash Pardeshi, Rahul Bhagat, Gajanan Dharme
Cardiovascular disease (CVD) remains a foremost global health concern, necessitating ongoing exploration of innovative therapeutic strategies. This review surveys the latest developments in cardiovascular therapeutics, offering a comprehensive overview of emerging approaches poised to transform disease management. The examination begins by elucidating the current epidemiological landscape of CVD and the economic challenges it poses to healthcare systems. It proceeds to scrutinize the limitations of traditional therapies, emphasizing the need for progressive interventions...
April 16, 2024: Current Cardiology Reviews
#37
REVIEW
Priyanka Arya, Vikram Sharma, Surabhi Thapliyal, Rahul Sagar, Priyanka Singh
Atherosclerosis is a primary cause of illness and death globally and its mechanism is still unclear. Different animal models have been created to evaluate the progression of atherosclerosis, allowing researchers to carefully control the circumstances of the experiment as well as the nutrition and environmental risk factors. To investigate the negative effects of various interventions, pathophysiological alterations might be generated utilizing genetic or pharmacological methods. These models' molecular and pathophysiological mechanisms have been clarified through experiments, and they have served as platforms for the creation of new drugs...
2024: Iranian Journal of Basic Medical Sciences
#38
JOURNAL ARTICLE
Jinfeng Liu, Sijie Liu, Dan Li, Hongbin Li, Fan Zhang
Background NFE2L2 (nuclear factor erythroid-2-related factor-2) encodes a basic leucine zipper (bZIP) transcription factor and exhibits variations in various tumor types, including lung cancer. In this study, we comprehensively investigated the impact of simultaneous mutations on the survival of NFE2L2 -mutant lung cancer patients within specific subgroups. Methods A cohort of 1,103 lung cancer patients was analyzed using hybridization capture-based next-generation sequencing. Results The NFE2L2 gene had alterations in 3...
June 2024: Global medical genetics
#39
JOURNAL ARTICLE
Xingxing Xie, Jie Zhang, Fujing Huang, Ling Fan
Abrocitinib is a highly selective Janus kinase 1 (JAK1) inhibitor that can block a multitude of inflammatory signaling pathways that underlie atopic dermatitis (AD). In addition, abrocitinib inhibits JAK1 signaling in sensory neurons to alleviate acute and chronic pruritus during AD. However, substantial variations in efficacy and safety risks remain due to variations in doses applied in clinical use. Therefore for the present study, differences in the efficacy and tolerability of 100 and 200 mg abrocitinib for treating pruritus and eczema symptoms in patients with moderate-to-severe AD were evaluated compared with placebo...
May 2024: Biomedical Reports
#40
Steven Baker, Dylan Baker, Robert Baker, Craig J Brown
This case series describes the aggregate rate of recovery in five consecutive subjects (six eyes) with retinal vein occlusion (RVO) who received l-methylfolate and other vitamins via Ocufolin® , a medical food. Subjects were followed for 10-33 months by a single ophthalmologist. Ocufolin® was prescribed at the time of diagnosis and subjects remained on the regimen throughout the time of observation. Examinations were performed in an un-masked fashion at 3-month intervals with recording of best corrected visual acuity (BCVA), average retinal nerve fiber layer (ARNFL) and central macular thickness (CMT), and fundus (examination of the retina, macula, optic nerve, and vessels) photography...
2024: Therapeutic Advances in Ophthalmology
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