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Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Jill A Rosenfeld, Vanesa C Lerma, Alyssa Tran, Megan A Longley, Richard A Lewis, Monika Weisz-Hubshman, Mir Reza Bekheirnia, Nasim Bekheirnia, Lauren Massingham, Michael Zech, Matias Wagner, Hartmut Engels, Kirsten Cremer, Elisabeth Mangold, Sophia Peters, Jessica Trautmann, Claudia Perne, Jessica L Mester, Maria J Guillen Sacoto, Richard Person, Pamela P McDonnell, Stacey R Cohen, Laina Lusk, Ana S A Cohen, Jean-Baptiste Le Pichon, Tomi Pastinen, Dihong Zhou, Kendra Engleman, Caroline Racine, Laurence Faivre, Sébastien Moutton, Anne-Sophie Denommé-Pichon, Hyun Yong Koh, Annapurna Poduri, Jeffrey Bolton, Cordula Knopp, Dong Sun Julia Suh, Andrea Maier, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Reza Maroofian, Gerald Bradley Schaefer, Vijayalakshmi Ramakumaran, Pradeep Vasudevan, Benito Banos-Pinero, Alistair T Pagnamenta, Chitra Prasad, Matthew Osmond, Sarah Schuhmann, Georgia Vasileiou, Sophie Russ-Hall, Ingrid E Scheffer, Gemma L Carvill, Heather Mefford, Carlos A Bacino, Brendan H Lee, Hsiao-Tuan Chao
No abstract text is available yet for this article.
April 4, 2024: American Journal of Human Genetics
#22
JOURNAL ARTICLE
Bhavana Kunisetty, Bailey A Martin-Giacalone, Xiaonan Zhao, Pamela N Luna, Brian P Brooks, Robert B Hufnagel, Chad A Shaw, Jill A Rosenfeld, A J Agopian, Philip J Lupo, Daryl A Scott
PURPOSE: A molecular diagnosis is only made in a subset of individuals with nonisolated microphthalmia, anophthalmia, and coloboma (MAC). This may be due to underutilization of clinical (whole) exome sequencing (cES) and an incomplete understanding of the genes that cause MAC. The purpose of this study is to determine the efficacy of cES in cases of nonisolated MAC and to identify new MAC phenotypic expansions. METHODS: We determined the efficacy of cES in 189 individuals with nonisolated MAC...
March 5, 2024: Investigative Ophthalmology & Visual Science
#23
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, Kay-Marie Lamar, Miriam C Aziz, Pauline Monin, Melanie O'Leary, Julia K Goodrich, Kiran V Garimella, Eleina England, Esther Yoon, Ben Weisburd, Francois Aguet, Carlos A Bacino, David R Murdock, Hongzheng Dai, Jill A Rosenfeld, Lisa T Emrick, Shamika Ketkar, Yael Sarusi, Damien Sanlaville, Saima Kayani, Brian Broadbent, Bertrand Isidor, Alisée Pengam, Benjamin Cogné, Daniel G MacArthur, Igor Ulitsky, Gemma L Carvill, Anne O'Donnell-Luria
Genes encoding long non-coding RNAs (lncRNAs) comprise a large fraction of the human genome, yet haploinsufficiency of a lncRNA has not been shown to cause a Mendelian disease. CHASERR is a highly conserved human lncRNA adjacent to CHD2- a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here we report three unrelated individuals each harboring an ultra-rare heterozygous de novo deletion in the CHASERR locus. We report similarities in severe developmental delay, facial dysmorphisms, and cerebral dysmyelination in these individuals, distinguishing them from the phenotypic spectrum of CHD2 haploinsufficiency...
February 7, 2024: medRxiv
#24
JOURNAL ARTICLE
Nicholas Howell, Ryan J Middleton, Frederic Sierro, Naomi A Wyatt, Andrew Chacon, Benjamin H Fraser, Keith R Bambery, Elle Livio, Christopher Dobie, Joseph J Bevitt, Justin Davies, Anthony Dosseto, Daniel R Franklin, Ulf Garbe, Susanna Guatelli, Ryoichi Hirayama, Naruhiro Matsufuji, Akram Mohammadi, Karl Mutimer, Louis M Rendina, Anatoly B Rosenfeld, Mitra Safavi-Naeini
PURPOSE: Neutron Capture Enhanced Particle Therapy (NCEPT) is a proposed augmentation of charged particle therapy which exploits thermal neutrons generated internally, within the treatment volume via nuclear fragmentation, to deliver a biochemically targeted radiation dose to cancer cells. This work is the first experimental demonstration of NCEPT, performed using both carbon and helium ion beams with two different targeted neutron capture agents (NCAs). MATERIALS AND METHODS: Human glioblastoma cells (T98G) were irradiated by carbon and helium ion beams in the presence of NCAs, [10 B]-BPA and [157 Gd]-DOTA-TPP...
March 11, 2024: International Journal of Radiation Oncology, Biology, Physics
#25
JOURNAL ARTICLE
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa Osei-Owusu, Heidi L Rehm, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio F Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, Seema Lalani, Jill A Rosenfeld, Lindsay C Burrage
Biallelic pathogenic variants in MAP3K20, which encodes a mitogen-activated protein kinase, are a rare cause of split-hand foot malformation (SHFM), hearing loss, and nail abnormalities or congenital myopathy. However, heterozygous variants in this gene have not been definitively associated with a phenotype. Here, we describe the phenotypic spectrum associated with heterozygous de novo variants in the linker region between the kinase domain and leucine zipper domain of MAP3K20. We report five individuals with diverse clinical features, including craniosynostosis, limb anomalies, sensorineural hearing loss, and ectodermal dysplasia-like phenotypes who have heterozygous de novo variants in this specific region of the gene...
March 7, 2024: Human Genetics
#26
MULTICENTER STUDY
Rebecca O'Dwyer, Sean Stern, Clarence T Wade, Anuradha Guggilam, William E Rosenfeld
BACKGROUND: Cenobamate is an antiseizure medication (ASM) approved in the US and Europe for the treatment of uncontrolled focal seizures. OBJECTIVE: This post hoc analysis of a phase III, open-label safety study assessed the safety and efficacy of adjunctive cenobamate in older adults versus the overall study population. METHODS: Adults aged 18-70 years with uncontrolled focal seizures taking stable doses of one to three ASMs were enrolled in the phase III, open-label safety study; adults aged 65-70 years from that study were included in our safety analysis...
March 2024: Drugs & Aging
#27
JOURNAL ARTICLE
Evelyn Tran, Scott Rosenfeld, Esther Ngan, J Herman Kan
OBJECTIVE: To assess the clinical impact of diagnostic musculoskeletal (MSK) injections on treatment decision-making in adolescent and adult patients at a children's hospital. MATERIALS AND METHODS: Retrospective study in patients who underwent diagnostic MSK injections by fluoroscopy or ultrasound (US) between 8/2020 and 3/2023 at a children's hospital. Patients received ropivacaine and triamcinolone acetonide at pain site, reporting quantitative FACES pain score prior to, immediately following, and 2-3 days following injection...
March 2, 2024: Skeletal Radiology
#28
REVIEW
Jordana E Hoppe, Jacquelyn Sjoberg, Gina Hong, Katie Poch, Edith T Zemanick, Stephanie Thee, Claire Edmondson, Dhiren Patel, Meghana Sathe, Drucy Borowitz, Melissa S Putman, Noah Lechtzin, Kristin A Riekert, Melissa Basile, Christopher H Goss, Mary Elizabeth Jarosz, Margaret Rosenfeld
The COVID-19 pandemic necessitated a rapid shift in clinical research to perform virtual visits and remote endpoint assessments, providing a key opportunity to optimize the use of remote endpoints for clinical trials in cystic fibrosis. The use of remote endpoints could allow more diverse participation in clinical trials while minimizing participant burden but must be robustly evaluated to ensure adequate performance and feasibility. In response, the Cystic Fibrosis Foundation convened the Remote Endpoint Task Force (Supplemental Table 1), a multidisciplinary group of CF researchers with remote endpoint expertise and community members tasked to better understand the current and future use of remote endpoints for clinical research...
February 29, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
#29
Billy Zhao, Hyun Jae Kim, Landon Tam, Wei Xiong, Greg Rosenfeld
Gastric extranodal NK/T-cell lymphoma (ENKTL) is a rare presentation of a rare disease. We report a 33-year-old woman presenting with epigastric pain, nausea, and vomiting. Endoscopic examination revealed gastric and duodenal ulceration. Biopsy of the ulcers revealed ENKTL. The patient began treatment, but developed hemorrhagic shock from her ulcers and died. Gastric ENKTL is a rare disease that presents with gastric ulceration. It has a high rate of mortality, and treatment is challenging because of its aggressive nature and lack of high-quality data to guide therapy...
March 2024: ACG Case Reports Journal
#30
Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Riccardo Sangermano, Sohil G Patankar, Mohamed Abdel-Hamid, Lama AlAbdi, Sylvia Safwat, Kyle P Flannery, Zain Dardas, Jawid M Fatih, Chaya Murali, Varun Kannan, Timothy E Lotze, Isabella Herman, Farah Ammouri, Brianna Rezich, Stephanie Efthymiou, Shahryar Alavi, David Murphy, Zahra Firoozfar, Mahya Ebrahimi Nasab, Amir Bahreini, Majid Ghasemi, Nourelhoda A Haridy, Hamid Reza Goldouzi, Fatemeh Eghbal, Ehsan Ghayoor Karimiani, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Haowei Du, Shalini N Jhangiani, Zeynep Coban-Akdemir, Dana Marafi, Lance Rodan, Sedat Isikay, Jill A Rosenfeld, Subhadra Ramanathan, Michael Staton, Kerby C Oberg, Robin D Clark, Catharina Wenman, Sam Loughlin, Ramy Saad, Tazeen Ashraf, Alison Male, Shereen Tadros, Reza Boostani, Ghada M H Abdel-Salam, Maha Zaki, Ebtesam Abdalla, M Chiara Manzini, Davut Pehlivan, Jennifer E Posey, Richard A Gibbs, Henry Houlden, Fowzan S Alkuraya, Kinga Bujakowska, Reza Maroofian, James R Lupski, Long Nam Nguyen
FLVCR1 encodes Feline leukemia virus subgroup C receptor 1 (FLVCR1), a solute carrier (SLC) transporter within the Major Facilitator Superfamily. FLVCR1 is a widely expressed transmembrane protein with plasma membrane and mitochondrial isoforms implicated in heme, choline, and ethanolamine transport. While Flvcr1 knockout mice die in utero with skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia, rare biallelic pathogenic FLVCR1 variants are linked to childhood or adult-onset neurodegeneration of the retina, spinal cord, and peripheral nervous system...
February 13, 2024: medRxiv
#31
JOURNAL ARTICLE
Marcello Scala, Valeria Tomati, Matteo Ferla, Mariateresa Lena, Julie S Cohen, Ali Fatemi, Elly Brokamp, Anna Bican, John A Phillips, Mary E Koziura, Michael Nicouleau, Marlene Rio, Karine Siquier, Nathalie Boddaert, Ilaria Musante, Serena Tamburro, Simona Baldassari, Michele Iacomino, Paolo Scudieri, Jill A Rosenfeld, Gary Bellus, Sara Reed, Hind Al Saif, Rossana Sanchez Russo, Matthew B Walsh, Vincent Cantagrel, Amy Crunk, Stefano Gustincich, Sarah M Ruggiero, Mark P Fitzgerald, Ingo Helbig, Pasquale Striano, Mariasavina Severino, Vincenzo Salpietro, Nicoletta Pedemonte, Federico Zara
The Rab family of guanosine triphosphatases (GTPases) includes key regulators of intracellular transport and membrane trafficking targeting specific steps in exocytic, endocytic, and recycling pathways. DENND5B (Rab6-interacting Protein 1B-like protein, R6IP1B) is the longest isoform of DENND5, an evolutionarily conserved DENN domain-containing guanine nucleotide exchange factor (GEF) that is highly expressed in the brain. Through exome sequencing and international matchmaking platforms, we identified five de novo variants in DENND5B in a cohort of five unrelated individuals with neurodevelopmental phenotypes featuring cognitive impairment, dysmorphism, abnormal behavior, variable epilepsy, white matter abnormalities, and cortical gyration defects...
February 16, 2024: American Journal of Human Genetics
#32
JOURNAL ARTICLE
Fernando de Frutos, Carles Diez-Lopez, Elena García-Romero, Leire Gondra, Leire Madariaga, Gema Ariceta, Alejandro García-Castaño, Edoardo Melilli, Lorena Herrador, Laura Triguero-Llonch, Ferran Gran, Laia Rosenfeld, Roger Llatjos, Josep Comin-Colet, José González-Costello
No abstract text is available yet for this article.
February 19, 2024: Circulation. Genomic and Precision Medicine
#33
JOURNAL ARTICLE
M W Fittall, M Brewer, J de Boisanger, L Kviat, A Babiker, H Taylor, F Saran, J Konadu, F Solda, A Creak, L C Welsh, N Rosenfelder
Predicting survival is essential to tailoring treatment for patients diagnosed with brain metastases. We have evaluated the performance of widely used, validated prognostic scoring systems (Graded Prognostic Assessment and diagnosis-specific Graded Prognostic Assessment) in over 1000 'real-world' patients treated with stereotactic radiosurgery to the brain, selected according to National Health Service commissioning criteria. Survival outcomes from our dataset were consistent with those predicted by the prognostic systems, but with certain cancer subtypes showing a significantly better survival than predicted...
February 9, 2024: Clinical Oncology: a Journal of the Royal College of Radiologists
#34
JOURNAL ARTICLE
Alexander E Graf, Alla Mehl, Amelia De Costa, Richard M Rosenfeld, Sara Abu-Ghanem
OBJECTIVE: Despite widespread use of high flow nasal cannula (HFNC) for respiratory support, the effect of HFNC on swallowing physiology is poorly understood. Flow rates that permit safe swallowing have not been established. We aim to assess if healthy individuals have diminished swallowing function and safety at high flow rates. STUDY DESIGN: Repeated measures with planned data collection. SETTING: Outpatient dysphagia clinic. METHODS: Swallowing function in a cohort of healthy individuals was assessed using Flexible Endoscopic Evaluation of Swallowing (FEES)...
February 14, 2024: Otolaryngology—Head and Neck Surgery
#35
Jackson Wezeman, Martin Darvas, Nadia Postupna, Jenna Klug, Ruby Sue Mangalindan, Addison Keely, Kathryn Nguyen, Chloe Johnson, Manuela Rosenfeld, Warren Ladiges
The process of aging is defined by the breakdown of critical maintenance pathways leading to an accumulation of damage and its associated phenotypes. Aging affects many systems and is considered the greatest risk factor for a number of diseases. Therefore, interventions aimed at establishing resilience to aging should delay or prevent the onset of age-related diseases. Recent studies have shown a three-drug cocktail consisting of rapamycin, acarbose, and phenylbutyrate delayed the onset of physical, cognitive, and biological aging phenotypes in old mice...
January 30, 2024: bioRxiv
#36
JOURNAL ARTICLE
Rebecca Calthorpe, Margaret Rosenfeld, Christopher H Goss, Nicole Green, Mark Derleth, Siobhán B Carr, Alan Smyth, Iain Stewart
BACKGROUND: Relieving gastrointestinal symptoms is a research priority in cystic fibrosis. Emerging evidence highlights effects of cystic fibrosis transmembrane conductance regulator (CFTR) modulators on gastrointestinal function, including pancreatic sufficiency. This study explores ivacaftor licensing and treatment on recorded pancreatic enzyme replacement therapy (PERT) prescription in the US and UK CF registries. METHODS: Retrospective longitudinal registry study of recorded pancreatic PERT use between 2008 and 2017...
February 10, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
#37
MULTICENTER STUDY
Sami Aboumatar, Louis Ferrari, Sean Stern, Clarence T Wade, Mindl Weingarten, Gregory S Connor, William E Rosenfeld
OBJECTIVE: Many patients with epilepsy require polytherapy, which increases their antiseizure medication (ASM) drug load, a measure that considers the doses of all ASMs a patient is taking. Changes in concomitant ASM drug load after adding cenobamate were evaluated post-hoc in a subset of the open-label, phase 3 study. METHODS: Patients 18-70 years old with uncontrolled focal seizures taking 1-3 ASMs were enrolled. Total concomitant ASM drug load (not including cenobamate) was calculated by dividing the patient's prescribed dose for each ASM by its defined daily dose, per the World Health Organization, then summing the ratios...
February 2024: Epilepsy Research
#38
JOURNAL ARTICLE
Ioannis Fakriadis, Iris Meiri-Ashkenazi, Chen Bracha, Hanna Rosenfeld, Aldo Corriero, Rosa Zupa, Chrysovalentinos Pousis, Maria Papadaki, Constantinos C Mylonas
We compared the endocrine status of the pituitary-gonad axis of wild and captive-reared greater amberjack (Seriola dumerili) during the reproductive cycle (April - July), reporting on the expression and release of the two gonadotropins for the first time in the Mediterranean Sea. Ovaries from wild females were characterized histologically as DEVELOPING in early May and SPAWNING capable in late May-July, the latter having a 3 to 4-fold higher gonadosomatic index (GSI). SPAWNING capable wild females exhibited an increase in pituitary follicle stimulating hormone (Fsh) content, plasma testosterone (T) and 17,20β-dihydroxy-4-pregnen-3-one (17,20β-P), while almost a 10-fold increase was observed in pituitary luteinizing hormone (Lh) content...
February 7, 2024: General and Comparative Endocrinology
#39
JOURNAL ARTICLE
Mashiat Khan, Xiao Xiao Lily Chen, Michelle Dias, Jhune Rizsan Santos, Sukhleen Kour, Justin You, Rebekah van Bruggen, Mohieldin M M Youssef, Ying-Wooi Wan, Zhandong Liu, Jill A Rosenfeld, Qiumin Tan, Udai Bhan Pandey, Hari Krishna Yalamanchili, Jeehye Park
Matrin-3 (MATR3) is an RNA-binding protein implicated in neurodegenerative and neurodevelopmental diseases. However, little is known regarding the role of MATR3 in cryptic splicing within the context of functional genes and how disease-associated variants impact this function. We show that loss of MATR3 leads to cryptic exon inclusion in many transcripts. We reveal that ALS-linked S85C pathogenic variant reduces MATR3 solubility but does not impair RNA binding. In parallel, we report a novel neurodevelopmental disease-associated M548T variant, located in the RRM2 domain, which reduces protein solubility and impairs RNA binding and cryptic splicing repression functions of MATR3...
February 6, 2024: FEBS Letters
#40
JOURNAL ARTICLE
Susanna Meade, Elizabeth Squirell, Thomas Tam Hoang, James Chow, Gregory Rosenfeld
BACKGROUND: Biological medications for inflammatory bowel disease (IBD) account for a significant burden on provincial budgets. In an effort to curb these rising costs, nationwide switching to biosimilars is expected to be complete in Canada before the end of 2023. Biosimilar products do not require the same rigor for licensing as the originator and therefore there has been appropriate scepticism as to how biosimilars will perform in real-world practice. METHODS: We have performed a systematic review including real-world observational studies of adult patients with IBD...
February 2024: Journal of the Canadian Association of Gastroenterology
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