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JOURNAL ARTICLE
Jian Xiong, Yuxin Sun, Hui Huang, Yu Liu, Fayang Ling, Yin Wei, Qianhua Zheng, Wenchuan Qi, Fanrong Liang
PURPOSE: Two-sample Mendelian randomization (MR) was conducted to assess the causal relationship between angina pectoris and gout. Material and Methods . Based on genome-wide association studies, single nucleotide polymorphisms (SNPs) that were closely associated with gout were selected from the UK Biobank-Neale Lab (ukb-a-107) as genetic instrumental variables. Considering that gout is characterized by elevated blood uric acid levels, SNPs related to blood uric acid levels were screened from BioBank Japan (bbj-a-57) as auxiliary gene instrumental variables...
2024: Pain Research & Management
#22
JOURNAL ARTICLE
Yanjing Chen, Ping Liu, Zhiyi Zhang, Yingling Ye, Sijie Yi, Chunhua Fan, Wei Zhao, Jun Liu
BACKGROUND: The existence of chronic pain increases susceptibility to virus and is now widely acknowledged as a prominent feature recognized as a major manifestation of long-term coronavirus disease 2019 (COVID-19) infection. Given the ongoing COVID-19 pandemic, it is imperative to explore the genetic associations between chronic pain and predisposition to COVID-19. METHODS: We conducted genetic analysis at the single nucleotide polymorphism (SNP), gene, and molecular levels using summary statistics of genome-wide association study (GWAS) and analyzed the drug targets by summary data-based Mendelian randomization analysis (SMR) to alleviate the multi-site chronic pain in COVID-19...
2024: Frontiers in Immunology
#23
JOURNAL ARTICLE
Sylvanus Toikumo, Mariela V Jennings, Benjamin K Pham, Hyunjoon Lee, Travis T Mallard, Sevim B Bianchi, John J Meredith, Laura Vilar-Ribó, Heng Xu, Alexander S Hatoum, Emma C Johnson, Vanessa K Pazdernik, Zeal Jinwala, Shreya R Pakala, Brittany S Leger, Maria Niarchou, Michael Ehinmowo, Greg D Jenkins, Anthony Batzler, Richard Pendegraft, Abraham A Palmer, Hang Zhou, Joanna M Biernacka, Brandon J Coombes, Joel Gelernter, Ke Xu, Dana B Hancock, Nancy J Cox, Jordan W Smoller, Lea K Davis, Amy C Justice, Henry R Kranzler, Rachel L Kember, Sandra Sanchez-Roige
Tobacco use disorder (TUD) is the most prevalent substance use disorder in the world. Genetic factors influence smoking behaviours and although strides have been made using genome-wide association studies to identify risk variants, most variants identified have been for nicotine consumption, rather than TUD. Here we leveraged four US biobanks to perform a multi-ancestral meta-analysis of TUD (derived via electronic health records) in 653,790 individuals (495,005 European, 114,420 African American and 44,365 Latin American) and data from UK Biobank (ncombined = 898,680)...
April 17, 2024: Nature Human Behaviour
#24
J D Oleas Quezada, J A Coyago Iñiguez, E R Guerrero Cevallos
This case report examines peripartum cardiomyopathy (PPCM), a rare variant of heart failure with reduced ejection fraction, which manifests at the end of labor or puerperium. The frequency of this pathology varies globally, and its association with risk factors such as genetic disorders, autoimmune diseases, viral infections, suggests a multifactorial etiology. Diagnostic criteria include: Heart failure secondary to left ventricular systolic dysfunction, manifested in the puerperium or at the end of pregnancy and lack of other identifiable causes of heart failure...
April 16, 2024: Hipertensión y Riesgo Vascular
#25
JOURNAL ARTICLE
Nicola J Wyatt, Hannah Watson, Carl A Anderson, Nicholas A Kennedy, Tim Raine, Tariq Ahmad, Dean Allerton, Michelle Bardgett, Emma Clark, Dawn Clewes, Cristina Cotobal Martin, Mary Doona, Jennifer A Doyle, Katherine Frith, Helen C Hancock, Ailsa L Hart, Victoria Hildreth, Peter M Irving, Sameena Iqbal, Ciara Kennedy, Andrew King, Sarah Lawrence, Charlie W Lees, Robert Lees, Laura Letchford, Trevor Liddle, James O Lindsay, Rebecca H Maier, John C Mansfield, Julian R Marchesi, Naomi McGregor, Rebecca E McIntyre, Jasmin Ostermayer, Tolulope Osunnuyi, Nick Powell, Natalie J Prescott, Jack Satsangi, Shriya Sharma, Tara Shrestha, Ally Speight, Michelle Strickland, James Ms Wason, Kevin Whelan, Ruth Wood, Gregory R Young, Xinyue Zhang, Miles Parkes, Christopher J Stewart, Luke Jostins-Dean, Christopher A Lamb
INTRODUCTION: Characterised by chronic inflammation of the gastrointestinal tract, inflammatory bowel disease (IBD) symptoms including diarrhoea, abdominal pain and fatigue can significantly impact patient's quality of life. Therapeutic developments in the last 20 years have revolutionised treatment. However, clinical trials and real-world data show primary non-response rates up to 40%. A significant challenge is an inability to predict which treatment will benefit individual patients...
April 17, 2024: BMJ Open
#26
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
#27
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
#28
JOURNAL ARTICLE
Wei Sun, Fan Yang, Yan Wang, Yan Yang, Rui Du, Xiao-Liang Wang, Zhi-Xin Luo, Jun-Jie Wu, Jun Chen
Neuropathic pain can occur during the prediabetic stage, even in the absence of hyperglycemia. The presence of prediabetic neuropathic pain (PDNP) poses challenges to the management of individuals with prediabetes. However, the mechanisms underlying this pain remain unclear. This study aims to investigate the underlying mechanism and identify potential therapeutic targets of PDNP. A prediabetic animal model induced by a high-energy diet exhibits both mechanical allodynia and thermal hyperalgesia. Furthermore, hyperexcitability and decreased potassium currents are observed in the dorsal root ganglion (DRG) neurons of these rats...
April 16, 2024: Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
#29
REVIEW
Yun Han Chen, Anastasios Xenitidis, Paul Hoffman, Leslie Matthews, Swathi G Padmanabhan, Lakshmi Aravindan, Ruth Ressler, Inesh Sivam, Sahana Sivam, Chase F Gillispie, Senthilkumar Sadhasivam
INTRODUCTION: Opioids are commonly used for perioperative analgesia, yet children still suffer high rates of severe post-surgical pain and opioid-related adverse effects. Persistent and severe acute surgical pain greatly increases the child's chances of chronic surgical pain, long-term opioid use, and opioid use disorder. AREAS COVERED: Enhanced recovery after surgery (ERAS) protocols, are often inadequate in treating a child's severe surgical pain. Research suggests that 'older' and longer-acting opioids such as methadone are providing better methods to treat acute post-surgical pain...
April 16, 2024: Expert Review of Clinical Pharmacology
#30
JOURNAL ARTICLE
Arianna N Lopez, Fuller W Bazer, Guoyao Wu
The bone is a large and complex organ (12-15% of body weight) consisting of specialized connective tissues (bone matrix and bone marrow), whereas joints are composed of cartilage, tendons, ligaments, synovial joint capsules and membranes, and a synovial joint cavity filled with synovial fluid. Maintaining healthy bones and joints is a dynamic and complex process, as bone deposition (formation of new bone materials) and resorption (breakdown of the bone matrix to release calcium and phosphorus) are the continuous processes to determine bone balance...
2024: Advances in Experimental Medicine and Biology
#31
JOURNAL ARTICLE
Sukanya Vijayan, Thirumal Margesan
Obesity is a growing global health crisis intricately connected to various chronic conditions, including arthritis. This paper explores the intricate web of hormonal changes in the context of obesity and their profound influence on the development and progression of arthritis. Hormones, such as leptin, insulin, cortisol, and estrogen, all altered in obesity, play pivotal roles in inflammation, cartilage degradation, mechanical stress, and pain associated with obesity-related arthritis. Additionally, the mechanical stress placed on weight-bearing joints by excess body weight accelerates joint wear and tear, contributing to arthritis...
April 15, 2024: Current Rheumatology Reviews
#32
JOURNAL ARTICLE
Mónica Escorial, Javier Muriel, Laura Agulló, Thomas Zandonai, César Margarit, Domingo Morales, Ana M Peiró
BACKGROUND: Opioids are widely used in chronic non-cancer pain (CNCP) management. However, they remain controversial due to serious risk of causing opioid use disorder (OUD). Our main aim was to develop a predictive model for future clinical translation that include pharmacogenetic markers. METHODS: An observational study was conducted in 806 pre-screened Spanish CNCP patients, under long-term use of opioids, to compare cases (with OUD, N.=137) with controls (without OUD, N...
April 12, 2024: Minerva Anestesiologica
#33
JOURNAL ARTICLE
John H McDermott, Videha Sharma, William G Newman, Paul Wilson, Katherine Payne, Stuart Wright
AIMS: Genetic testing can be used to improve the safety and effectiveness of commonly prescribed medicines-a concept known as pharmacogenetics. This study aimed to quantify members of the UK public's preferences for a pharmacogenetic service to be delivered in primary care in the National Health Service. METHODS: Members of the UK population were surveyed via an online panel company. Respondents completed 1 of 2 survey versions, asking respondents to select their preferred pharmacogenetic testing service in the context of a presentation of low mood or pain...
April 14, 2024: British Journal of Clinical Pharmacology
#34
JOURNAL ARTICLE
Gianfranco Vornetti, Giulio Vara, Maria Chiara Baroni, Elisabetta Mariucci, Andrea Donti, Luigi Cirillo, Stefano Ratti, Elena Cantoni, Greta Venturi, Caterina Tonon, Raffaele Lodi, Luca Spinardi
PURPOSE: Dural ectasia (DE) may significantly impact Marfan syndrome (MFS) patients' quality of life due to chronic lower back pain, postural headache and urinary disorders. We aimed to evaluate the association of quantitative measurements of DE, and their evolution over time, with demographic, clinical and genetic characteristics in a cohort of MFS patients. METHODS: We retrospectively included 88 consecutive patients (39% females, mean age 37.1 ± 14...
April 14, 2024: European Spine Journal
#35
REVIEW
Courtney Popp, William Miller, Cindy Eide, Jakub Tolar, John A McGrath, Christen L Ebens
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic disease resulting from inadequate type VII collagen (C7). Although recurrent skin blisters and wounds are the most apparent disease features, the impact of C7 loss is not confined to the skin and mucous membranes. RDEB is a systemic disease marred by chronic inflammation, fibrotic changes, pain, itch, and anemia, significantly impacting QOL and survival. In this narrative review, we summarize these systemic features of RDEB and promising research avenues to address them...
April 12, 2024: Journal of Investigative Dermatology
#36
REVIEW
Gloria Angima, Yunyao Qu, Si Hong Park, David C Dallas
Lactose intolerance, which affects about 65-75% of the world's population, is caused by a genetic post-weaning deficiency of lactase, the enzyme required to digest the milk sugar lactose, called lactase non-persistence. Symptoms of lactose intolerance include abdominal pain, bloating and diarrhea. Genetic variations, namely lactase persistence, allow some individuals to metabolize lactose effectively post-weaning, a trait thought to be an evolutionary adaptation to dairy consumption. Although lactase non-persistence cannot be altered by diet, prebiotic strategies, including the consumption of galactooligosaccharides (GOSs) and possibly low levels of lactose itself, may shift the microbiome and mitigate symptoms of lactose consumption...
March 29, 2024: Nutrients
#37
REVIEW
Javier Plaza, Alejandro Mínguez, Guillermo Bastida, Remedios Marqués, Pilar Nos, Jose Luis Poveda, Inés Moret-Tatay
Inflammatory bowel disease (IBD) is a chronic inflammatory disorder of the digestive tract usually characterized by diarrhea, rectal bleeding, and abdominal pain. IBD includes Crohn's disease and ulcerative colitis as the main entities. IBD is a debilitating condition that can lead to life-threatening complications, involving possible malignancy and surgery. The available therapies aim to achieve long-term remission and prevent disease progression. Biologics are bioengineered therapeutic drugs that mainly target proteins...
March 27, 2024: International Journal of Molecular Sciences
#38
JOURNAL ARTICLE
Kelsen Dantas Eulálio, Daniel R Kollath, Liline Maria Soares Martins, Antonio de Deus Filho, Maria do Amparo Salmito Cavalcanti, Lucas Machado Moreira, Bernardo Guerra Tenório, Lucas Gomes de Brito Alves, Danielle Yamauchi, Ligia Vizeu Barrozo, George R Thompson Iii, Mathieu Nacher, Jason E Stajich, Gil Benard, Eduardo Bagagli, Maria Sueli Soares Felipe, Bridget M Barker, Luciana Trilles, Marcus de Melo Teixeira
Coccidioidomycosis, listed as a priority mycosis by the WHO, is endemic in the United States but often overlooked in Central and South America. Employing a multi-institutional approach, we investigate how disease characteristics, pathogen genetic variation, and environmental factors impact coccidioidomycosis epidemiology and outcomes in South America. We identified 292 cases (1978-2021) and 42 outbreaks in Piauí and Maranhão states, Brazil, the largest series outside the US/Mexico epidemic zone. The male-to-female ratio was 57...
April 12, 2024: Nature Communications
#39
JOURNAL ARTICLE
Yan Qiao, Jinghong Zhao, Ji Wu, Lewei Cao, Guiqin Song, Jingxin Mao
RATIONALE: Gitelman syndrome (GS), also known as familial hypokalemia and hypomagnesemia, is a rare autosomal recessive inherited disease caused by primary renal desalinization caused by impaired reabsorption of sodium and chloride ions in the distal renal tubules. We report a case of clinical and genetic characteristics of GS accompanied with Graves disease and adrenocorticotrophic hormone (ACTH)-independent adrenocortical adenoma. PATIENT CONCERNS: The patient is a 45 year old female, was admitted to our hospital, due to a left adrenal gland occupying lesion as the chief complaint...
April 12, 2024: Medicine (Baltimore)
#40
Nia A Gecheva, Valentin Angelov, Radka Kaneva, Milka Dikova
Nail-patella syndrome, also known as Fong disease, is an uncommon autosomal dominant disorder characterized by a distinctive set of features, including fingernail abnormalities, hypoplastic patellae, radial head dislocation, and iliac horns. This condition often leads to patellar subluxation or dislocation, resulting in knee instability and pain. While existing literature predominantly focuses on the clinical and radiological aspects of nail-patella syndrome-related knee manifestations, only a limited number of articles delve into a meticulous approach to the condition with a comprehensive strategy for diagnosis...
April 2024: Journal of Surgical Case Reports
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