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JOURNAL ARTICLE
Twan Sia, Riki O Tanaka, Albert Mousad, Aditya P Narayan, Kristen Si, Leeon Bacchus, Hind Ouerghi, Aashka Patel, Arnav Patel, Evan Cunningham, Taylor Epstein, Jerry Fu, Stanley Liu, Raisa Khuda, Paige McDonald, Shibani Mallik, Joanna McNulty, Michelle Pan, John Leung
BACKGROUND: Food malabsorption and intolerance is implicated in gastrointestinal symptoms among patients with irritable bowel syndrome (IBS). Key triggers include fructose and fructan. Prior studies examined fructose and fructan malabsorption separately in IBS patients. None have concurrently assessed both within the same patient group. We aimed to investigate the association between fructose and fructan malabsorption in the same patients with IBS using hydrogen breath testing (HBT). METHODS: We retrospectively identified patients with IBS who underwent fructose and fructan HBTs and abstracted their results from the electronic medical record...
April 24, 2024: BMC Gastroenterology
#2
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Elizabeth E Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill A Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna Mm Howson, Stephan J Sanders, Anne O'Donnell-Luria, Nicola Whiffin
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes 1 . Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify the non-coding RNA RNU4-2 as a novel syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome 2 . We identify an 18 bp region of RNU4-2 mapping to two structural elements in the U4/U6 snRNA duplex (the T-loop and Stem III) that is severely depleted of variation in the general population, but in which we identify heterozygous variants in 119 individuals with NDD...
April 9, 2024: medRxiv
#3
JOURNAL ARTICLE
Tsukasa Nozu, Hideyuki Arie, Saori Miyagishi, Masatomo Ishioh, Kaoru Takakusaki, Toshikatsu Okumura
Visceral hypersensitivity resulting from compromised gut barrier with activated immune system is a key feature of irritable bowel syndrome (IBS). Corticotropin-releasing factor (CRF) and Toll-like receptor 4 (TLR4) activate proinflammatory cytokine signaling to induce these changes, which is one of the mechanisms of IBS. As activation of the NLRP3 inflammasome by lipopolysaccharide (LPS) or TLR4 leads to release interleukin (IL)-1β, the NLRP3 inflammasome may be involved in the pathophysiology of IBS...
April 20, 2024: International Immunopharmacology
#4
JOURNAL ARTICLE
Amy Needleman, Michael Sheaff, Ruth J Pepper, Rhys D R Evans
BACKGROUND: Immunoglobulin G4-related disease is an inflammatory disease affecting multiple organs including the kidney. Immunoglobulin G4-related kidney disease most commonly manifests as a tubulointerstitial nephritis and is associated with glomerular disease in a proportion of cases. Membranous nephropathy is the most frequent glomerular lesion. Herein, we report the first documented case of immunoglobulin G4-related disease presenting with nephrotic syndrome owing to minimal change disease...
April 20, 2024: Journal of Medical Case Reports
#5
JOURNAL ARTICLE
Tinaye Mutetwa, Yuxin Liu, Richard Silvera, Michelle Evans, Michael Yurich, Joseph Tripodi, Issa Leonard, Jane Houldsworth, Zeynep Gümüş, Anne M Bowcock, Keith Sigel, Michael Gaisa, Paz Polak
BACKGROUND: People living with HIV (PLWH) have substantially increased incidence of anal precancer and cancer. There are very little data regarding genomic disturbances in anal precancers among PLWH. Here, we identified specific chromosomal variants in anal squamous intraepithelial lesions. METHODS: We collected 63 anal biopsy specimens (27 low-grade intraepithelial lesions [LSIL] and 36 high-grade intraepithelial lesions [HSIL]) from PLWH obtained as part of anal cancer screening in our NYC-based health system...
April 15, 2024: Journal of Acquired Immune Deficiency Syndromes: JAIDS
#6
Evan J Gorgas, Shawn C Dowling
Appendicitis is one of the most common diagnoses that general surgeons encounter in practice. An exceedingly rare cause of this disease is neoplasm. We report the case of a 24-year-old female who presented with non-specific right lower quadrant abdominal pain and equivocal findings of appendicitis and pelvic congestion syndrome on CT imaging. After an extensive work-up, the patient underwent a diagnostic laparoscopy with an appendectomy. The appendix appeared grossly normal; however, on a pathologic review of the specimen, a low-grade appendiceal mucinous neoplasm (LAMN) was found...
March 2024: Curēus
#7
JOURNAL ARTICLE
Masatomo Ishioh, Tsukasa Nozu, Saori Miyagishi, Sho Igarashi, Takuya Funayama, Nobuhiro Ueno, Toshikatsu Okumura
Intestinal barrier dysfunction, leaky gut, is implicated in various diseases, including irritable bowel syndrome (IBS) and neurodegenerative conditions like Alzheimer's disease. Our recent investigation revealed that basal forebrain cholinergic neurons (BFCNs), critical for cognitive function, receive signals from butyrate and orexin, playing a role in regulating intestinal barrier function through adenosine A2B signaling and the vagus. This study explores the involvement and function of brain histamine, linked to BFCNs, in the regulation of intestinal barrier function...
April 10, 2024: Biochemical Pharmacology
#8
JOURNAL ARTICLE
Sergey S Gutor, Bradley W Richmond, Vineet Agrawal, Evan L Brittain, Ciara M Shaver, Pingsheng Wu, Taryn K Boyle, Ravinder R Mallugari, Katrina Douglas, Robert N Piana, Joyce E Johnson, Robert F Miller, John H Newman, Timothy S Blackwell, Vasiliy V Polosukhin
Exertional dyspnea has been documented in U.S. military personnel after deployment to Iraq and Afghanistan. We studied whether continued exertional dyspnea in this patient population is associated with pulmonary vascular disease (PVD). We performed detailed histomorphometry of pulmonary vasculature in 52 Veterans with biopsy-proven post-deployment respiratory syndrome (PDRS) and then recruited five of these same Veterans with continued exertional dyspnea to undergo a follow-up clinical evaluation, including symptom questionnaire, pulmonary function testing, surface echocardiography, and right heart catheterization (RHC)...
April 9, 2024: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
#9
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
#10
REVIEW
Randolph W Evans
Posttraumatic headaches are one of the most common and controversial secondary headache types. After a mild traumatic brain, an estimated 11% to 82% of people develop a postconcussion syndrome, which has been controversial for more than 160 years. Headache is estimated as present in 30% to 90% of patients after a mild head injury. Most headaches are tension-type-like or migraine-like. Headaches in civilians, soldiers, athletes, and postcraniotomy are reviewed. The treatments are the same as for the primary headaches...
May 2024: Neurologic Clinics
#11
JOURNAL ARTICLE
Minping Zhang, Li Chen, Qunping Xu, Xiaohua Yang, Xiang Liu, Luanmei Liu
It has been reported that the effective inhibition of vascular endothelial growth factor (VEGF) can prevent the progression of ovarian hyperstimulation syndrome (OHSS). The present study aimed to investigate the mechanism underlying the effect of vitamin D3 (VD3) on OHSS in mouse models and granulosa cells. The effects of VD3 administration (16 and 24 IU) on ovarian permeability were determined using Evans blue. In addition, ovarian pathology, corpus luteum count, inflammatory responses, and hormone and VEGFA levels were assessed using pathological sections and ELISA...
April 4, 2024: In Vitro Cellular & Developmental Biology. Animal
#12
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
#13
JOURNAL ARTICLE
Hang-Jing Wu, Evan Krystofiak, John Kuchtey, Rachel W Kuchtey
Two major constituents of exfoliation material (XFM), fibrillin- 1 and lysyl oxidase-like 1 (encoded by FBN1 and LOXL1) are implicated in exfoliation glaucoma (XFG), yet their individual contributions to ocular phenotype are minor. To test the hypothesis that a combination of FBN1 mutation and LOXL1 deficiency exacerbates ocular phenotypes, pan-LOX inhibitor, β-aminopropionitrile (BAPN) was used to treat adult wild-type (wt) and Fbn1C1041G/+ mice for 8 weeks and their eyes were examined. Although intraocular pressure was not changed and XFM not detected in the eyes, BAPN treatment worsened optic nerve and axon expansion in Fbn1C1041G/+ mice, an early sign of axonal damage in rodent models of glaucoma...
March 26, 2024: American Journal of Pathology
#14
JOURNAL ARTICLE
Mohamed Hbibi, Mounira El Alaoui El Hanafi, Zakaria Kasmi, Hind Ouair, Sarra Benmiloud, Fatima Ailal, Moustapha Hida, Ahmed Aziz Bousfiha
Autoimmune cytopenias are defined by autoantibodies' immune destruction of one or more blood elements. Most often it is autoimmune hemolytic anemia or immune thrombocytopenia or both that define Evans syndrome. It may be secondary to infection or to underlying pathology such as systemic autoimmune disease or primary immunodeficiency, especially when it becomes chronic over several years. Primary Immunodeficiencies or inborn errors of immunity (IEI) are no longer defined solely by infections: autoimmunity is part of the clinical features of several of these diseases...
January 5, 2024: La Tunisie Médicale
#15
REVIEW
Mohammad Abufaraj, Raghad Ramadan, Amro Alkhatib
Neuroendocrine prostate cancer (NEPC) is a rare subtype of prostate cancer (PCa) that usually results in poor clinical outcomes and may be accompanied by paraneoplastic syndromes (PNS). NEPC is becoming more frequent. It can initially manifest as PNS, complicating diagnosis. Therefore, we reviewed the literature on the different PNS associated with NEPC. We systematically reviewed English-language articles from January 2017 to September 2023, identifying 17 studies meeting PRISMA guidelines for NEPC and associated PNS...
March 21, 2024: Current Oncology
#16
JOURNAL ARTICLE
Tori Kinamon, Ursula Waack, Mark Needles, Daniel Rubin, Deborah Collyar, Sarah B Doernberg, Scott R Evans, Toshimitsu Hamasaki, Thomas L Holland, Jessica Howard-Anderson, Henry Chambers, Vance G Fowler, Sumati Nambiar, Peter Kim, Helen W Boucher, Ramya Gopinath
BACKGROUND: Desirability of outcome ranking (DOOR) is an innovative approach to clinical trial design and analysis that uses an ordinal ranking system to incorporate the overall risks and benefits of a therapeutic intervention into a single measurement. Here, we derived and evaluated a disease-specific DOOR endpoint for registrational trials for hospital-acquired bacterial pneumonia and ventilator-associated bacterial pneumonia (HABP/VABP). METHODS: Through comprehensive examination of data from nearly 4,000 participants enrolled in six registrational trials for HABP/VABP submitted to the FDA between 2005-2022, we derived and applied a HABP/VABP specific endpoint...
March 25, 2024: Clinical Infectious Diseases
#17
JOURNAL ARTICLE
Deiziane V S Costa, Nathalie V Pham, Andrea V Loureiro, Suemin E Yang, Brian W Behm, Cirle A Warren
OBJECTIVES: In the US, Clostridioides difficile (C. difficile) infection (CDI) is the 8th leading cause for hospital readmission and 7th for mortality among all gastrointestinal (GI) disorders. Here, we investigated GI dysfunction post-CDI in human and mice post-acute infection. MATERIALS AND METHODS: From March 2020 to July 2021, we reviewed the clinical records of 67 patients referred to the UVA Complicated C. difficile clinic for fecal microbiota transplantation (FMT) eligibility...
March 23, 2024: Anaerobe
#18
JOURNAL ARTICLE
Barbara Salzinger, Kristina Lundwall, Marie Evans, Josefin Mörtberg, Håkan Wallén, Tomas Jernberg, Thomas Kahan, Pia Lundman, Per Tornvall, David Erlinge, Bertil Lindahl, Tomasz Baron, Melinda Rezeli, Jonas Spaak, Stefan H Jacobson
BACKGROUND: The links between chronic kidney disease (CKD) and the high burden of cardiovascular disease remain unclear. We aimed to explore the association between selected inflammatory and angiogenic biomarkers, kidney function and long-term outcome in patients with an acute coronary syndrome (ACS) and to test the hypothesis that CKD status modifies this association. METHODS: A total of 1293 ACS patients hospitalized between 2008 and 2015 were followed until 31 December 2017...
March 2024: Clinical Kidney Journal
#19
JOURNAL ARTICLE
Marit Jalink, Chaja F Jacobs, Jahanzaib Khwaja, Dorothea Evers, Coty Bruggeman, Bruno Fattizzo, Marc Michel, Etienne Crickx, Quentin A A Hill, Ulrich Jaeger, Arnon P Kater, Anja B U Mäkelburg, Anouk Breedijk, Peter A W Te Te Boekhorst, Marlijn P A Hoeks, Masja de de Haas, Shirley P D'Sa, Josephine M I M I Vos
Autoimmune hemolytic anemia (AIHA) is a rare autoantibody-mediated disease. For steroid and/or rituximab-refractory AIHA, there is no consensus on optimal treatment. Daratumumab, a monoclonal antibody targeting CD38, could be beneficial by suppression of CD38+ plasmacells and thus autoantibody secretion. In addition, since CD38 is also expressed by activated T-cells, daratumumab may also act via immunomodulatory effects. We evaluated efficacy and safety of daratumumab monotherapy in an international retrospective study including 19 adult patients with heavily pretreated refractory AIHA...
March 20, 2024: Blood Advances
#20
JOURNAL ARTICLE
Alexander R Evans, Xiaochun Zhao, Griffin L Ernst, Jorge Ortiz-Garcia, Ian F Dunn, John Burke
INTRODUCTION: The dialysis disequilibrium syndrome (DDS) is a complication in those undergoing dialysis for chronic kidney disease (CKD) or acute kidney injury (AKI), characterized by nonspecific symptoms that may progress to coma and death secondary to cerebral edema. This syndrome is associated with rapid change in electrolytes during dialysis with changes in intracranial pressure (ICP) and may have a higher incidence in the elderly neurosurgical patient population. METHODS: Literature review and illustrative case example...
March 15, 2024: GeroScience
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