Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#1
JOURNAL ARTICLE
Şule Haskoloğlu, Gökcan Öztürk, Nazlı Deveci Demirbaş, Can Akal, Candan İslamoğlu, Kübra Baskın, Aylin Heper, Ömer Erdeve, Serdar Ceylaner, Figen Doğu, Aydan İkincioğulları
Junctional epidermolysis bullosa (JEB) is a rare, incurable, devastating, and mostly fatal congenital genetic disorder characterized by painful blistering of the skin and mucous membranes in response to minor trauma or pressure. JEB is classified roughly into 2 subtypes: JEB-Herlitz is caused by mutations on genes encoding laminin-332. The authors present a patient consulted with a suspicion of primary immunodeficiency due to skin sores that started at the age of 1 month and a history of 3 siblings who died with similar sores, who was diagnosed with JEB-Herlitz after detecting a homozygous LAMC2 gene mutation in WES analysis...
April 23, 2024: American Journal of Dermatopathology
#2
JOURNAL ARTICLE
Tyler B Waltz, Dongman Chao, Eve K Prodoehl, Jonathan D Enders, Vanessa L Ehlers, Bhavya S Dharanikota, Nancy M Dahms, Elena Isaeva, Quinn H Hogan, Bin Pan, Cheryl L Stucky
Patients with Fabry disease suffer from chronic debilitating pain and peripheral sensory neuropathy with minimal treatment options, but the cellular drivers of this pain are unknown. Here, we propose a mechanism we believe to be novel in which altered signaling between Schwann cells and sensory neurons underlies the peripheral sensory nerve dysfunction we observed in a genetic rat model of Fabry disease. Using in vivo and in vitro electrophysiological recordings, we demonstrated that Fabry rat sensory neurons exhibited pronounced hyperexcitability...
March 7, 2024: JCI Insight
#3
Michael Sabina, Zein Barakat, Jennifer M Jost, Rachel Tatro, Wan Sai
This report of two cases confronts the longstanding perception of Sickle Cell Trait (SCT) as a clinically benign condition, highlighting its complex and severe clinical manifestations, particularly in the context of blood loss anemia and vaso-occlusive crises (VOCs). The hallmark of sickle cell disease is the severe pain caused by acute vaso-occlusion of the microvasculature that leads to bone marrow infarction. We report two cases of patients with SCT and severe anemia in the setting of blood loss secondary to uterine fibroids subsequently causing VOCs with likely bone sequestration...
March 2024: Curēus
#4
Christal N Davis, Yousef Khan, Sylvanus Toikumo, Zeal Jinwala, Dorret I Boomsma, Daniel F Levey, Joel Gelernter, Rachel L Kember, Henry R Kranzler
There is considerable comorbidity across externalizing and internalizing behavior dimensions of psychopathology. We applied genomic structural equation modeling (gSEM) to genome-wide association study (GWAS) summary statistics to evaluate the factor structure of externalizing and internalizing psychopathology across 16 traits and disorders among European-ancestry individuals (n's = 16,400 to 1,074,629). We conducted GWAS on factors derived from well-fitting models. Downstream analyses served to identify biological mechanisms, explore drug repurposing targets, estimate genetic overlap between the externalizing and internalizing spectra, and evaluate causal effects of psychopathology liability on physical health...
April 9, 2024: medRxiv
#5
JOURNAL ARTICLE
Shazia Rasheed, Ghulam Kubra, Lubna Baqai, Muhammad Liaquat Raza, Fariha Hassan, Syed Ghazi Abbas Rizvi
BACKGROUND: Premature aortic involvement and comprehensive management strategies in familial hypercholesterolemia familial hypercholesterolemia (FH), a rare autosomal dominant genetic disorder, poses significant challenges due to its propensity for elevated low-density lipoprotein cholesterol, premature coronary heart disease, and vascular atherosclerosis. CASE PRESENTATION: Unraveling Cardiovascular Complexities: A Striking Familial Hypercholesterolemia. This case study delves into a remarkable instance of FH in a 16-year-old female who presented with chest pain and worsening dyspnea...
April 20, 2024: Egyptian Heart Journal: EHJ
#6
REVIEW
Andrew Dancis, Ashutosh K Pandey, Debkumar Pain
Iron‑sulfur (FeS) clusters are cofactors of numerous proteins involved in various essential functions including cellular respiration, protein translation, DNA synthesis and repair, ribosome maturation, anti-viral responses, and isopropylmalate isomerase activity. Novel FeS cluster proteins are still being discovered due to the widespread use of cryogenic electron microscopy (cryo-EM) and elegant genetic screens targeted at protein discovery. A complex sequence of biochemical reactions mediated by a conserved machinery controls biosynthesis of FeS clusters...
April 17, 2024: Biochimica et Biophysica Acta. Molecular Cell Research
#7
JOURNAL ARTICLE
Michiel M A van Buuren, Noortje S Riedstra, Myrthe A van den Berg, Fleur D E M Boel, Harbeer Ahedi, Vahid Arbabi, Nigel K Arden, Sita M A Bierma-Zeinstra, Cindy G Boer, Flavia Cicuttini, Timothy F Cootes, Kay Crossley, David Felson, Willem Paul Gielis, Joshua Heerey, Graeme Jones, Stefan Kluzek, Nancy E Lane, Claudia Lindner, John A Lynch, J Van Meurs, Andrea B Mosler, Amanda E Nelson, M Nevitt, Edwin Oei, Jos Runhaar, Jinchi Tang, Harrie Weinans, Rintje Agricola
PURPOSE: Hip osteoarthritis (OA) is a major cause of pain and disability worldwide. Lack of effective therapies may reflect poor knowledge on its aetiology and risk factors, and result in the management of end-stage hip OA with costly joint replacement. The Worldwide Collaboration on OsteoArthritis prediCtion for the Hip (World COACH) consortium was established to pool and harmonise individual participant data from prospective cohort studies. The consortium aims to better understand determinants and risk factors for the development and progression of hip OA, to optimise and automate methods for (imaging) analysis, and to develop a personalised prediction model for hip OA...
April 18, 2024: BMJ Open
#8
JOURNAL ARTICLE
Annachiara Spagna, Nadine Attal
Neuropathic pain poses a significant challenge due to its complex mechanisms, necessitating specific treatments. In recent decades, significant progress has been made in the clinical research of neuropathic pain, marking a shift from empirical strategies to evidence-based medicine in its management. This review outlines both pharmacological and non-pharmacological interventions. Antidepressants (tricyclic and serotonin-noradrenaline reuptake inhibitors), antiepileptics (gabapentin, pregabalin), and topical agents constitute the main pharmacological treatments...
April 16, 2024: La Presse Médicale
#9
JOURNAL ARTICLE
Felicia Jennysdotter Olofsgård, Caroline Ran, Yuyan Qin, Carmen Fourier, Elisabet Waldenlind, Anna Steinberg, Christina Sjöstrand, Andrea Carmine Belin
Up to 25% of individuals who live with cluster headache (CH), an extremely painful primary headache disorder, do not adequately respond to the first-line treatment, triptans. Studies have indicated that genetic variants can play a role in treatment response. Likewise, differences in clinical characteristics can give clues to mechanisms underlying triptan non-response. Our aim was to investigate five genetic variants previously implicated in triptan response and their relation to triptan usage in our Swedish CH cohort and to investigate potential distinctions in clinical characteristics...
April 18, 2024: Journal of Molecular Neuroscience: MN
#10
JOURNAL ARTICLE
Dilek Uludağ Alkaya, Hasan Emir Taner, Timur Yıldırım, Evren Akpınar, Beyhan Tüysüz
Mucopolysaccharidosis type 10 is caused by biallelic variants in ARSK, which encodes for a lysosomal sulfatase. To date, seven patients with a mild phenotype resembling spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia have been described. In this report, we present two novel ARSK variants and report clinical and radiological findings of three patients. The patients' initial complaints were hip or knee pain and a waddling gait. All patients showed normal intelligence, normal hearing and eye examinations, and none had organomegaly...
April 18, 2024: American Journal of Medical Genetics. Part A
#11
Nishal N Patel, Adam Kurnick, Inna Bukharovich
A 60-year-old female with a past medical history of hypertension presents to the ED with one day of throbbing left knee pain with associated numbness that worsened with ambulation. EKG shows lateral T-wave inversions with no prior for comparison. The patient had bloodwork drawn and a chest x-ray ordered. Her pain was improving with acetaminophen, and during further workup, she went into cardiac arrest. The advanced cardiac life support protocol was initiated, the patient was intubated, and point-of-care ultrasound revealed pericardial effusion...
March 2024: Curēus
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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)
#20
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
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
