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Alicia M Williams, Suman Medda, Meghan K Wally, Rachel B Seymour, Alexander Hysong, Amber Stanley, Givenchy Manzano, Joseph R Hsu
BACKGROUND: Gluteal Compartment Syndrome (GCS) is a rare subtype of acute compartment syndrome (ACS), complex to diagnose and potentially fatal if left untreated. The incidence of ACS is estimated to be 7.3 per 100,000 in males and 0.7 per 100,000 in females [1-3]. Given its rare occurrence, the incidence of GCS is not well reported. In the case of GCS, the most common etiologies are surgical positioning, prolonged immobilization secondary to substance use or loss of consciousness, and traumatic injury...
June 2024: Trauma Case Reports
#22
JOURNAL ARTICLE
Felicity Liew, Claudia Efstathiou, Sara Fontanella, Matthew Richardson, Ruth Saunders, Dawid Swieboda, Jasmin K Sidhu, Stephanie Ascough, Shona C Moore, Noura Mohamed, Jose Nunag, Clara King, Olivia C Leavy, Omer Elneima, Hamish J C McAuley, Aarti Shikotra, Amisha Singapuri, Marco Sereno, Victoria C Harris, Linzy Houchen-Wolloff, Neil J Greening, Nazir I Lone, Matthew Thorpe, A A Roger Thompson, Sarah L Rowland-Jones, Annemarie B Docherty, James D Chalmers, Ling-Pei Ho, Alexander Horsley, Betty Raman, Krisnah Poinasamy, Michael Marks, Onn Min Kon, Luke S Howard, Daniel G Wootton, Jennifer K Quint, Thushan I de Silva, Antonia Ho, Christopher Chiu, Ewen M Harrison, William Greenhalf, J Kenneth Baillie, Malcolm G Semple, Lance Turtle, Rachael A Evans, Louise V Wain, Christopher Brightling, Ryan S Thwaites, Peter J M Openshaw
One in ten severe acute respiratory syndrome coronavirus 2 infections result in prolonged symptoms termed long coronavirus disease (COVID), yet disease phenotypes and mechanisms are poorly understood1 . Here we profiled 368 plasma proteins in 657 participants ≥3 months following hospitalization. Of these, 426 had at least one long COVID symptom and 233 had fully recovered. Elevated markers of myeloid inflammation and complement activation were associated with long COVID. IL-1R2, MATN2 and COLEC12 were associated with cardiorespiratory symptoms, fatigue and anxiety/depression; MATN2, CSF3 and C1QA were elevated in gastrointestinal symptoms and C1QA was elevated in cognitive impairment...
April 2024: Nature Immunology
#23
Rowan Saloner, Adam Staffaroni, Eric Dammer, Erik C B Johnson, Emily Paolillo, Amy Wise, Hilary Heuer, Leah Forsberg, Argentina Lario Lago, Julia Webb, Jacob Vogel, Alexander Santillo, Oskar Hansson, Joel Kramer, Bruce Miller, Jingyao Li, Joseph Loureiro, Rajeev Sivasankaran, Kathleen Worringer, Nicholas Seyfried, Jennifer Yokoyama, William Seeley, Salvatore Spina, Lea Grinberg, Lawren VandeVrede, Peter Ljubenkov, Ece Bayram, Andrea Bozoki, Danielle Brushaber, Ciaran Considine, Gregory Day, Bradford Dickerson, Kimiko Domoto-Reilly, Kelley Faber, Douglas Galasko, Daniel Geschwind, Nupur Ghoshal, Neill Graff-Radford, Chadwick Hales, Lawrence Honig, Ging-Yuek Hsiung, Edward Huey, John Kornak, Walter Kremers, Maria Lapid, Suzee Lee, Irene Litvan, Corey McMillan, Mario Mendez, Toji Miyagawa, Alexander Pantelyat, Belen Pascual, Henry Paulson, Leonard Petrucelli, Peter Pressman, Eliana Ramos, Katya Rascovsky, Erik Roberson, Rodolfo Savica, Allison Snyder, A Campbell Sullivan, Carmela Tartaglia, Marijne Vandebergh, Bradley Boeve, Howie Rosen, Julio Rojas, Adam Boxer, Kaitlin Casaletto
The pathophysiological mechanisms driving disease progression of frontotemporal lobar degeneration (FTLD) and corresponding biomarkers are not fully understood. We leveraged aptamer-based proteomics (> 4,000 proteins) to identify dysregulated communities of co-expressed cerebrospinal fluid proteins in 116 adults carrying autosomal dominant FTLD mutations ( C9orf72 , GRN , MAPT ) compared to 39 noncarrier controls. Network analysis identified 31 protein co-expression modules. Proteomic signatures of genetic FTLD clinical severity included increased abundance of RNA splicing (particularly in C9orf72 and GRN ) and extracellular matrix (particularly in MAPT ) modules, as well as decreased abundance of synaptic/neuronal and autophagy modules...
March 28, 2024: Research Square
#24
Kyle B Williams, Alex T Larsson, Bryant J Keller, Katherine E Chaney, Rory L Williams, Minu M Bhunia, Garrett M Draper, Tyler A Jubenville, Sue K Rathe, Christopher L Moertel, Nancy Ratner, David A Largaespada
Neurofibromatosis Type 1 (NF1) is a common cancer predisposition syndrome, caused by heterozygous loss of function mutations in the tumor suppressor gene NF1 . Individuals with NF1 develop benign tumors of the peripheral nervous system (neurofibromas), originating from the Schwann cell linage after somatic loss of the wild type NF1 allele, some of which progress further to malignant peripheral nerve sheath tumors (MPNST). There is only one FDA approved targeted therapy for symptomatic plexiform neurofibromas and none approved for MPNST...
March 25, 2024: bioRxiv
#25
JOURNAL ARTICLE
Ryan M Pace, Elana A King-Nakaoka, Andrew G Morse, Kelsey J Pascoe, Anna Winquist, Beatrice Caffé, Alexandra D Navarrete, Kimberly A Lackey, Christina D W Pace, Bethaney D Fehrenkamp, Caroline B Smith, Melanie A Martin, Celestina Barbosa-Leiker, Sylvia H Ley, Mark A McGuire, Courtney L Meehan, Janet E Williams, Michelle K McGuire
BACKGROUND: There is a paucity of data on the presence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in feces of lactating women with coronavirus disease 2019 (COVID-19) and their breastfed infants as well as associations between fecal shedding and symptomatology. OBJECTIVE: We examined whether and to what extent SARS-CoV-2 is detectable in the feces of lactating women and their breastfed infants following maternal COVID-19 diagnosis. METHODS: This was a longitudinal study carried out from April 2020 to December 2021 involving 57 breastfeeding maternal-infant dyads: 33 dyads were enrolled within 7 d of maternal COVID-19 diagnosis, and 24 healthy dyads served as controls...
2024: Frontiers in Immunology
#26
JOURNAL ARTICLE
Kristen Hyberg, Iqbal El-Assaad, Wei Liu, Iqbal El-Assaad, Orkun Baloglu, Howard Heching, William Hanna
To identify risk factors associated with post-pericardiotomy syndrome (PPS) in patients undergoing surgical repair of atrial septal defects (ASD). A single-center retrospective study. Tertiary academic hospital. Included were patients of all ages who underwent surgical ASD repair, while exclusion criteria included the absence of post-operative electrocardiogram (ECG), lack of follow-up post-discharge and factors hindering ECG interpretation. Demographic and clinical data, including ECG changes indicative of pericardial inflammation, were collected...
April 6, 2024: Pediatric Cardiology
#27
JOURNAL ARTICLE
Marisa H Fisher, Rhonda S Black, Rebecca R Kammes
This article describes the development of a distance-delivered social skills training program for adults with Williams syndrome (SSTP-WS) through a community engaged approach. Throughout six phases of development, the research team received input from adults with Williams syndrome, caregivers, service providers, educators, and researchers on (a) the need for a training program and topics to be addressed (Phase 1), (b) an initial draft of the SSTP-WS (Phase 3), (c) the intervention pilot study (Phase 5), and (d) feedback to provide context for the results of the study (Phase 6)...
April 5, 2024: Journal of Intellectual Disabilities: JOID
#28
Munna William, Amrit Bhusal, Syed Muhammad Umar, Ayesha Jamal, Abdul Sattar Anjum, Mudasira Habib
INTRODUCTION AND IMPORTANCE: PHACE syndrome is a rare neurocutaneous disorder characterized by large segmental hemangiomas on the face and is associated with multiple developmental defects. PHACE stands for posterior fossa malformations, hemangiomas, arterial abnormalities, cardiac defects, and eye anomalies, with the most common manifestation being hemangioma in the cervico-facial region in early childhood. CASE PRESENTATION: The authors report a case of a 15-year-female with complaints of facial hemangioma which on multisystemic imaging showed features of central nervous system (CNS) anomalies that led to the diagnosis of PHACE syndrome...
April 2024: Annals of Medicine and Surgery
#29
REVIEW
Randy Felber, William New, Suzanne I Riskin
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus responsible for the coronavirus disease 2019 (COVID-19) pandemic, uses the surface angiotensin-converting enzyme 2 (ACE2) receptor as the site of entry into host cardiac, respiratory, intestinal, renal, and nervous system cells. Predisposing risk factors such as cardiovascular disease increase the risk of developing severe disease. Hypertension is characterized by the stimulation of the renin-angiotensin-aldosterone system (RAAS). Angiotensin-converting enzyme inhibitors (ACEis) and angiotensin 2 receptor blockers (ARBs), medications used to treat hypertension, inhibit RAAS and its downstream effects; however, they have also been shown to upregulate ACE2 receptors...
March 2024: Curēus
#30
Nicolas Engrand, Quentin Salardaine, Jean-Philippe Desilles, Cécile Echard, Pierre Bourdillon, Marc Williams, Guillaume Baille
OBJECTIVES: Spontaneous intracranial hypotension (SIH) is frequently complicated by subacute subdural hematoma (SDH) and more rarely by bilateral thalamic ischemia. Here, we report a case of SIH-related SDH treated with three epidural patches (EPs), with follow-up of the intracranial pressure and lumbar intrathecal pressure. METHODS: A 46-year-old man presented bilateral thalamic ischemia, then a growing SDH. After failure of urgent surgical evacuation, he underwent three saline EPs, two dynamic myelography examinations and one digital subtraction angiography-phlebography examination...
2024: Frontiers in Neurology
#31
JOURNAL ARTICLE
Christopher J Hatch, Sebastian D Piombo, Jennifer S Fang, Johannes S Gach, Makena L Ewald, William K Van Trigt, Brian G Coon, Jay M Tong, Donald N Forthal, Christopher C W Hughes
BACKGROUND: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), responsible for COVID-19, has caused nearly 7 million deaths worldwide. Severe cases are marked by an aggressive inflammatory response known as hypercytokinemia, contributing to endothelial damage. Although vaccination has reduced hospitalizations, hypercytokinemia persists in breakthrough infections, emphasizing the need for disease models mimicking this response. Using a 3D microphysiological system (MPS), we explored the vascular role in SARS-CoV-2-induced hypercytokinemia...
2024: Frontiers in Cardiovascular Medicine
#32
JOURNAL ARTICLE
Mzwanele Ngubo, Zhaoyi Chen, Darin McDonald, Rana Karimpour, Amit Shrestha, Julien Yockell-Lelièvre, Aurélie Laurent, Ojong Tabi Ojong Besong, Eve C Tsai, F Jeffrey Dilworth, Michael J Hendzel, William L Stanford
Hutchinson-Gilford Progeria syndrome (HGPS) is a lethal premature aging disorder caused by a de novo heterozygous mutation that leads to the accumulation of a splicing isoform of Lamin A termed progerin. Progerin expression deregulates the organization of the nuclear lamina and the epigenetic landscape. Progerin has also been observed to accumulate at low levels during normal aging in cardiovascular cells of adults that do not carry genetic mutations linked with HGPS. Therefore, the molecular mechanisms that lead to vascular dysfunction in HGPS may also play a role in vascular aging-associated diseases, such as myocardial infarction and stroke...
April 4, 2024: Aging Cell
#33
JOURNAL ARTICLE
Jean-Louis A Parmasad, Konrad M Ricke, Benjamin Nguyen, Morgan G Stykel, Brodie Buchner-Duby, Amanda Bruce, Haley M Geertsma, Eric Lian, Nathalie A Lengacher, Steve M Callaghan, Alvin Joselin, Julianna J Tomlinson, Michael G Schlossmacher, William L Stanford, Jiyan Ma, Patrik Brundin, Scott D Ryan, Maxime W C Rousseaux
Parkinson's disease (PD) is a debilitating neurodegenerative disease characterized by the loss of midbrain dopaminergic neurons (DaNs) and the abnormal accumulation of α-Synuclein (α-Syn) protein. Currently, no treatment can slow nor halt the progression of PD. Multiplications and mutations of the α-Syn gene (SNCA) cause PD-associated syndromes and animal models that overexpress α-Syn replicate several features of PD. Decreasing total α-Syn levels, therefore, is an attractive approach to slow down neurodegeneration in patients with synucleinopathy...
April 4, 2024: Cell Death & Disease
#34
JOURNAL ARTICLE
Chloe K Nagasawa, Aaron O Bailey, William Russell, Mariano A Garcia-Blanco
Forkhead box P3 (FOXP3) is the master fate-determining transcription factor in regulatory T (Treg) cells and is essential for their development, function and homeostasis. Mutations in FOXP3 cause immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome, and aberrant expression of FOXP3 has been implicated in other diseases such as multiple sclerosis and cancer. We previously demonstrated that pre-mRNA splicing of FOXP3 RNAs is highly sen-sitive to levels of DExD-box polypeptide 39B (DDX39B) and here we investigate the mechanism of this sensitivity...
April 4, 2024: RNA
#35
JOURNAL ARTICLE
William Rosenbaum, Erik Bovinder Ylitalo, Guillaume Castel, Andreas Sjödin, Pär Larsson, Julia Wigren Byström, Mattias N E Forsell, Clas Ahlm, Lisa Pettersson, Anne Tuiskunen Bäck
Orthohantaviruses, transmitted primarily by rodents, cause hemorrhagic fever with renal syndrome (HFRS) in Eurasia and hantavirus pulmonary syndrome in the Americas. These viruses, with documented human-to-human transmission, exhibit a wide case-fatality rate, 0.5-40 %, depending on the virus species, and no vaccine or effective treatment for severe Orthohantavirus infections exists. In Europe, the Puumala virus (PUUV), carried by the bank vole Myodes glareolus, causes a milder form of HFRS. Despite the reliance on serology and PCR for diagnosis, the three genomic segments of Swedish wild-type PUUV have yet to be completely sequenced...
March 30, 2024: Journal of Clinical Virology
#36
JOURNAL ARTICLE
Jordan R Hansford, Anirban Das, Rose B McGee, Yoshiko Nakano, Jack Brzezinski, Sarah R Scollon, Surya P Rednam, Jaclyn Schienda, Orli Michaeli, Sun Young Kim, Mary-Louise C Greer, Rosanna Weksberg, Douglas R Stewart, William D Foulkes, Uri Tabori, Kristian W Pajtler, Stefan M Pfister, Garrett M Brodeur, Junne Kamihara
Tumors of the central nervous system (CNS) comprise the second most common group of neoplasms in childhood. The incidence of germline predisposition among children with brain tumors continues to grow as our knowledge on disease aetiology increases. Some children with brain tumors may present with non-malignant phenotypic features of specific syndromes (e.g. nevoid basal cell carcinoma syndrome, neurofibromatosis type 1 and type 2, DICER1 syndrome, and constitutional mismatch repair deficiency), while others may present with a strong family history of cancer (e...
April 4, 2024: Clinical Cancer Research
#37
JOURNAL ARTICLE
Carter Burns, Jacob Jo, Kristen Williams, Phil Davis, Amad Amedy, Trevor J Anesi, Olivia L Prosak, Grant H Rigney, Douglas P Terry, Scott L Zuckerman
INTRODUCTION: In adolescent and collegiate athletes with sport-related concussion (SRC), we sought to evaluate the prevalence and predictors of long-term psychological symptoms. METHODS: A cohort study was conducted of athletes 12-24-year-old diagnosed with SRC between November 2017 and April 2022. Athletes/proxies were interviewed on psychological symptoms (i.e. anger, anxiety, depression, and stress). Participants who scored ≥75th percentile on one or more PROMIS (Patient-Reported Outcomes Measurement System) measures were operationalized to have subclinical, long-term psychological symptoms...
April 4, 2024: Brain Injury
#38
JOURNAL ARTICLE
Xinchun Gu, Conall Watson, Utkarsh Agrawal, Heather Whitaker, William H Elson, Sneha Anand, Ray Borrow, Anna Buckingham, Elizabeth Button, Lottie Curtis, Dominic Dunn, Alex J Elliot, Filipa Ferreira, Rosalind Goudie, Uy Hoang, Katja Hoschler, Gavin Jamie, Debasish Kar, Beatrix Kele, Meredith Leston, Ezra Linley, Jack Macartney, Gemma L Marsden, Cecilia Okusi, Omid Parvizi, Catherine Quinot, Praveen Sebastianpillai, Vanashree Sexton, Gillian Smith, Timea Suli, Nicholas P B Thomas, Catherine Thompson, Daniel Todkill, Rashmi Wimalaratna, Matthew Inada-Kim, Nick Andrews, Victoria Tzortziou-Brown, Rachel Byford, Maria Zambon, Jamie Lopez-Bernal, Simon de Lusignan
BACKGROUND: Prepandemic sentinel surveillance focused on improved management of winter pressures, with influenza-like illness (ILI) being the key clinical indicator. The World Health Organization (WHO) global standards for influenza surveillance include monitoring acute respiratory infection (ARI) and ILI. The WHO's mosaic framework recommends that the surveillance strategies of countries include the virological monitoring of respiratory viruses with pandemic potential such as influenza...
April 3, 2024: JMIR Public Health and Surveillance
#39
JOURNAL ARTICLE
Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik S Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
Nine out of 19 genes encoding GABAA receptor subunits have been linked to monogenic syndromes characterized by seizures and developmental disorders. Previously, we reported the de novo variant p.(Thr300Ile) in GABRA4 in a patient with epilepsy and neurodevelopmental abnormalities. However, no new cases have been reported since then. Through an international collaboration, we collected molecular and phenotype data of individuals carrying de novo variants in GABRA4. Patients and their parents were investigated either by exome or genome sequencing, followed by targeted Sanger sequencing in some cases...
April 2, 2024: European Journal of Human Genetics: EJHG
#40
JOURNAL ARTICLE
Wayne C Zheng, Nicole Evans, Diem Dinh, Jason E Bloom, Angela L Brennan, Jocasta Ball, Jeffrey Lefkovits, James A Shaw, Christopher M Reid, William Chan, Dion Stub
BACKGROUND: Clinical outcomes of patients with renal transplant (RT) undergoing percutaneous coronary intervention (PCI) remain poorly elucidated. METHOD: Between 2014 and 2021, data were analysed for the following three groups of patients undergoing PCI enrolled in a multicentre Australian registry: (1) RT recipients (n=226), (2) patients on dialysis (n=992), and (3) chronic kidney disease (CKD) patients (estimated glomerular filtration rate [eGFR], 30‒60 mL/min per 1...
April 1, 2024: Heart, Lung & Circulation
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