keyword
https://read.qxmd.com/read/38634358/predictors-of-sinonasal-improvement-after-highly-effective-modulator-therapy-in-adults-with-cystic-fibrosis
#1
JOURNAL ARTICLE
Daniel M Beswick, Christine M Liu, Jonathan B Overdevest, Anna Zemke, Aastha Khatiwada, David A Gudis, Jessa E Miller, Adam Kimple, Jeremy P Tervo, Emily DiMango, Jennifer L Goralski, Claire Keating, Brent Senior, Amanda L Stapleton, Patricia H Eshaghian, Jess C Mace, Karolin Markarian, Jeremiah A Alt, Todd E Bodner, Naweed I Chowdhury, Anne E Getz, Peter H Hwang, Ashoke Khanwalker, Jivianne T Lee, Douglas A Li, Meghan Norris, Jayakar V Nayak, Cameran Owens, Zara M Patel, Katie Poch, Rodney J Schlosser, Kristine A Smith, Timothy L Smith, Zachary M Soler, Jeffrey D Suh, Grant A Turner, Marilene B Wang, Milene T Saavedra, Jennifer L Taylor Cousar
OBJECTIVES: The 22-question SinoNasal Outcome Test (SNOT-22) assesses chronic rhinosinusitis (CRS) severity. We aimed to identify predictors of SNOT-22 score improvement following highly effective modulator therapy (HEMT) initiation and to corroborate the SNOT-22 minimal clinically important difference (MCID) in adults with cystic fibrosis (CF). METHODS: Prospective observational data was pooled from four studies across 10 US centers investigating people with CF (PwCF) and CRS...
April 18, 2024: Laryngoscope
https://read.qxmd.com/read/38631704/a-biosocial-analysis-of-perinatal-and-late-neonatal-mortality-among-indigenous-maya-kaqchikel-communities-in-tecp%C3%A3-n-guatemala-a-mixed-methods-study
#2
JOURNAL ARTICLE
Anahí Venzor Strader, Magda Sotz, Hannah N Gilbert, Ann C Miller, Anne Cc Lee, Peter Rohloff
INTRODUCTION: Neonatal mortality is a global public health challenge. Guatemala has the fifth highest neonatal mortality rate in Latin America, and Indigenous communities are particularly impacted. This study aims to understand factors driving neonatal mortality rates among Maya Kaqchikel communities. METHODS: We used sequential explanatory mixed methods. The quantitative phase was a secondary analysis of 2014-2016 data from the Global Maternal and Newborn Health Registry from Chimaltenango, Guatemala...
April 17, 2024: BMJ Global Health
https://read.qxmd.com/read/38618710/cytotoxic-activity-and-cell-specificity-of-a-novel-lhrh-peptide-drug-conjugate-d-cys6-lhrh-vedotin-against-ovarian-cancer-cell-lines
#3
JOURNAL ARTICLE
Subramanyam Vankadara, Zhiyuan Ke, Sifang Wang, Sin Yun Foo, Jayantha Gunaratne, May Ann Lee, Xiaoying Koh, C S Brian Chia
Ovarian cancer is the most deadly female gynaecological malignancy in developed countries and new treatments are urgently needed. The luteinising hormone releasing hormone (LHRH) peptide drug conjugate Zoptarelin doxorubicin is one such potential new drug modality that entered clinical trials for treating LHRH receptor-positive gynaecological cancers. However, development stopped after disappointing Phase 3 results in 2017. We believe the lack of efficacy was due to linker instability and payload potency. In this work, we replaced its linker-toxin with vedotin (MC-VC-PABC-MMAE), yielding the novel peptide drug conjugate D-Cys6-LHRH vedotin...
April 2024: Chemical Biology & Drug Design
https://read.qxmd.com/read/38613431/safety-profile-and-effects-on-the-peripheral-immune-response-of-fecal-microbiota-transplantation-in-clinically-healthy-dogs
#4
JOURNAL ARTICLE
Mary Ann Lee, Maria Questa, Patrawin Wanakumjorn, Amir Kol, Bridget McLaughlin, Bart C Weimer, Agostino Buono, Jan S Suchodolski, Sina Marsilio
BACKGROUND: Fecal microbiota transplantation (FMT) is increasingly used for gastrointestinal and extra-gastrointestinal diseases in veterinary medicine. However, its effects on immune responses and possible adverse events have not been systematically investigated. HYPOTHESIS/OBJECTIVES: Determine the short-term safety profile and changes in the peripheral immune system after a single FMT administration in healthy dogs. ANIMALS: Ten client-owned, clinically healthy dogs as FMT recipients, and 2 client-owned clinically healthy dogs as FMT donors...
April 13, 2024: Journal of Veterinary Internal Medicine
https://read.qxmd.com/read/38607917/sars-cov-2-variant-of-concern-fitness-and-adaptation-in-primary-human-airway-epithelia
#5
JOURNAL ARTICLE
Rita M Meganck, Caitlin E Edwards, Michael L Mallory, Rhianna E Lee, Hong Dang, Alexis B Bailey, Jason A Wykoff, Samuel C Gallant, Deanna R Zhu, Boyd L Yount, Takafumi Kato, Kendall M Shaffer, Satoko Nakano, Anne Marie Cawley, Vishwaraj Sontake, Jeremy R Wang, Robert S Hagan, Melissa B Miller, Purushothama Rao Tata, Scott H Randell, Longping V Tse, Camille Ehre, Kenichi Okuda, Richard C Boucher, Ralph S Baric
The severe acute respiratory syndrome coronavirus 2 pandemic is characterized by the emergence of novel variants of concern (VOCs) that replace ancestral strains. Here, we dissect the complex selective pressures by evaluating variant fitness and adaptation in human respiratory tissues. We evaluate viral properties and host responses to reconstruct forces behind D614G through Omicron (BA.1) emergence. We observe differential replication in airway epithelia, differences in cellular tropism, and virus-induced cytotoxicity...
April 10, 2024: Cell Reports
https://read.qxmd.com/read/38604489/inpatient-management-of-epidermolysis-bullosa-consensus-based-hands-on-instructions-for-neonates-and-post-neonates
#6
JOURNAL ARTICLE
Brenda Abreu Molnar, Laura Levin, Duri Yun, Kimberly Morel, Karen Wiss, Julie Wieser, Christopher Ward, Haley Trice, Maria Teresa Garcia-Romero, Allison Stephenson, Adrienne Provost, Harper N Price, Marissa J Perman, Morgan Moxon, Beth Moeves, Catherine C McCuaig, Christine McCarthy, Anne W Lucky, Moise L Levy, Michelle Lee, Irene Lara-Corrales, Natalia Henner, Nichole Halliburton, Emily Griffith, Emily Gorell, Sharon Glick, Lawrence Eichenfield, Clara Collins, Anna L Bruckner, Brenda Boulrice, Susan Bayliss, Kellie Badger, Amy S Paller
BACKGROUND: Epidermolysis bullosa (EB), characterized by skin fragility and blistering, often requires hospitalization. Training for inpatient management of EB is limited, with no unified recommendations available in North America. OBJECTIVE: To develop consensus-derived best practices for hands-on inpatient management of EB in both the neonatal and post-neonatal period. METHODS: A modified Delphi method (expert-based input via two surveys and a final review) was implemented...
April 9, 2024: Journal of the American Academy of Dermatology
https://read.qxmd.com/read/38601924/pain-mechanisms-in-the-transgender-individual-a-review
#7
REVIEW
Jennifer T Anger, Laura K Case, Andrew P Baranowski, Ardin Berger, Rebecca M Craft, Lyn Ann Damitz, Rodney Gabriel, Tracy Harrison, Kirsten Kaptein, Sanghee Lee, Anne Z Murphy, Engy Said, Stacey Abigail Smith, David A Thomas, Maria Del C Valdés Hernández, Victor Trasvina, Ursula Wesselmann, Tony L Yaksh
SPECIFIC AIM: Provide an overview of the literature addressing major areas pertinent to pain in transgender persons and to identify areas of primary relevance for future research. METHODS: A team of scholars that have previously published on different areas of related research met periodically though zoom conferencing between April 2021 and February 2023 to discuss relevant literature with the goal of providing an overview on the incidence, phenotype, and mechanisms of pain in transgender patients...
2024: Front Pain Res (Lausanne)
https://read.qxmd.com/read/38600381/necroptosis-blockade-prevents-lung-injury-in-severe-influenza
#8
JOURNAL ARTICLE
Avishekh Gautam, David F Boyd, Sameer Nikhar, Ting Zhang, Ioannis Siokas, Lee-Ann Van de Velde, Jessica Gaevert, Victoria Meliopoulos, Bikash Thapa, Diego A Rodriguez, Kathy Q Cai, Chaoran Yin, Daniel Schnepf, Julius Beer, Carly DeAntoneo, Riley M Williams, Maria Shubina, Brandi Livingston, Dingqiang Zhang, Mark D Andrake, Seungheon Lee, Raghavender Boda, Anantha L Duddupudi, Jeremy Chase Crawford, Peter Vogel, Christian Loch, Martin Schwemmle, Lawrence C Fritz, Stacey Schultz-Cherry, Douglas R Green, Gregory D Cuny, Paul G Thomas, Alexei Degterev, Siddharth Balachandran
Severe influenza A virus (IAV) infections can result in hyper-inflammation, lung injury and acute respiratory distress syndrome1-5 (ARDS), for which there are no effective pharmacological therapies. Necroptosis is an attractive entry point for therapeutic intervention in ARDS and related inflammatory conditions because it drives pathogenic lung inflammation and lethality during severe IAV infection6-8 and can potentially be targeted by receptor interacting protein kinase 3 (RIPK3) inhibitors. Here we show that a newly developed RIPK3 inhibitor, UH15-38, potently and selectively blocked IAV-triggered necroptosis in alveolar epithelial cells in vivo...
April 10, 2024: Nature
https://read.qxmd.com/read/38589559/perinatal-inflammation-fetal-growth-restriction-and-long-term-neurodevelopmental-impairment-in-bangladesh
#9
JOURNAL ARTICLE
Anne Cc Lee, Sara Cherkerzian, Fahmida Tofail, Lian V Folger, Salahuddin Ahmed, Sayedur Rahman, Nabid H Chowdhury, Rasheda Khanam, Ingrid Olson, Emily Oken, Raina Fichorova, Charles A Nelson, Abdullah H Baqui, Terrie Inder
BACKGROUND: There are limited data on the impact of perinatal inflammation on child neurodevelopment in low-middle income countries and among growth-restricted infants. METHODS: Population-based, prospective birth cohort study of 288 infants from July 2016-March 2017 in Sylhet, Bangladesh. Umbilical cord blood was analyzed for interleukin(IL)-1α, IL-1β, IL-6, IL-8, and C-reactive protein(CRP). Child neurodevelopment was assessed at 24 months with Bayley-III Scales of Infant Development...
April 8, 2024: Pediatric Research
https://read.qxmd.com/read/38588785/discovery-of-n-1-4-benzoxazin-3-one-urea-analogs-as-mode-selective-trpv1-antagonists
#10
JOURNAL ARTICLE
Guocheng Huang, Aeran Jung, Li-Xuan Li, Nayeon Do, Sungwon Jung, Yubum Jeon, Dongxu Zuo, Minh Thanh La, Nguyen Van Manh, Peter M Blumberg, Hongryul Yoon, Yoonji Lee, Jihyae Ann, Jeewoo Lee
A series of 1,4-benzoxazin-3-one analogs were investigated to discover mode-selective TRPV1 antagonists, since such antagonists are predicted to minimize target-based adverse effects. Using the high-affinity antagonist 2 as the lead structure, the structure activity relationship was studied by modifying the A-region through incorporation of a polar side chain on the benzoxazine and then by changing the C-region with a variety of substituted pyridine, pyrazole and thiazole moieties. The t-butyl pyrazole and thiazole C-region analogs provided high potency as well as mode-selectivity...
April 6, 2024: Bioorganic & Medicinal Chemistry Letters
https://read.qxmd.com/read/38587289/gender-assigned-sex-at-birth-and-gender-diversity-windows-into-diagnostic-timing-disparities-in-autism
#11
JOURNAL ARTICLE
Goldie A McQuaid, Allison B Ratto, Allison Jack, Alexis Khuu, Jessica V Smith, Sean C Duane, Ann Clawson, Nancy Raitano Lee, Alyssa Verbalis, Kevin A Pelphrey, Lauren Kenworthy, Gregory L Wallace, John F Strang
Later autism diagnosis is associated with risk for mental health problems. Understanding factors related to later autism diagnosis may help reduce mental health risks for autistic people. One characteristic associated with later autism diagnosis is female sex. However, studies often do not distinguish sex assigned at birth and gender identity. Gender diversity may be more common in autistic relative to neurotypical people, and autism is more common in gender-diverse populations. We studied age at autism diagnosis by sex assigned at birth, gender identity, and gender diversity (gender-diverse vs cisgender) status, separately...
April 8, 2024: Autism: the International Journal of Research and Practice
https://read.qxmd.com/read/38585811/expanding-the-genetics-and-phenotypes-of-ocular-congenital-cranial-dysinnervation-disorders
#12
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Sarah MacKinnon, Mary C Whitman, Paola M Matos Ruiz, Brandon M Pratt, Eleina M England, Lynn Pais, Gabrielle Lemire, Emily Groopman, Carmen Glaze, Kathryn A Russell, Moriel Singer-Berk, Silvio Alessandro Di Gioia, Arthur S Lee, Caroline Andrews, Sherin Shaaban, Megan M Wirth, Sarah Bekele, Melissa Toffoloni, Victoria R Bradford, Emma E Foster, Lindsay Berube, Cristina Rivera-Quiles, Fiona M Mensching, Alba Sanchis-Juan, Jack M Fu, Isaac Wong, Xuefang Zhao, Michael W Wilson, Ben Weisburd, Monkol Lek, Harrison Brand, Michael E Talkowski, Daniel G MacArthur, Anne O'Donnell-Luria, Caroline D Robson, David G Hunter, Elizabeth C Engle
PURPOSE: To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). METHODS: We coupled phenotyping with exome or genome sequencing of 467 pedigrees with genetically unsolved oCCDDs, integrating analyses of pedigrees, human and animal model phenotypes, and de novo variants to identify rare candidate single nucleotide variants, insertion/deletions, and structural variants disrupting protein-coding regions...
March 26, 2024: medRxiv
https://read.qxmd.com/read/38579696/brand-a-platform-for-closed-loop-experiments-with-deep-network-models
#13
JOURNAL ARTICLE
Yahia Hassan Ali, Kevin L Bodkin, Mattia Rigotti-Thompson, Kushant Patel, Nicholas S Card, Bareesh Bhaduri, Samuel R Nason-Tomaszewski, Domenick M Mifsud, Xianda Hou, Claire Nicolas, Shane Allcroft, Leigh Hochberg, Nicholas Au Yong, Sergey D Stavisky, Lee E Miller, David Brandman, Chethan Pandarinath
OBJECTIVE: Artificial neural networks (ANNs) are state-of-the-art tools for modeling and decoding neural activity, but deploying them in closed-loop experiments with tight timing constraints is challenging due to their limited support in existing real-time frameworks. Researchers need a platform that fully supports high-level languages for running ANNs (e.g., Python and Julia) while maintaining support for languages that are critical for low-latency data acquisition and processing (e...
April 5, 2024: Journal of Neural Engineering
https://read.qxmd.com/read/38572173/parity-affects-mammary-development-in-late-pregnant-swine
#14
JOURNAL ARTICLE
Chantal Farmer, Jakob C Johannsen, Caroline Gillies, Lee-Anne Huber, Russell C Hovey
The goal of this project was to determine whether various measures of mammary development differed between gilts and multiparous sows at the end of gestation. During gestation, Yorkshire × Landrace gilts ( n  = 19) and sows (second and third gestations, n  = 17) were fed one daily meal of a conventional corn-based diet, where the amount fed was based on body weight (BW) and backfat thickness (BF) at mating. On day 110 ± 1 of gestation, a jugular blood sample was obtained from all gilts and sows to measure insulin-like growth factor-1 (IGF-1), glucose, free fatty acids, and urea...
2024: Translational Animal Science
https://read.qxmd.com/read/38571764/deep-conditional-generative-model-for-longitudinal-single-slice-abdominal-computed-tomography-harmonization
#15
JOURNAL ARTICLE
Xin Yu, Qi Yang, Yucheng Tang, Riqiang Gao, Shunxing Bao, Leon Y Cai, Ho Hin Lee, Yuankai Huo, Ann Zenobia Moore, Luigi Ferrucci, Bennett A Landman
PURPOSE: Two-dimensional single-slice abdominal computed tomography (CT) provides a detailed tissue map with high resolution allowing quantitative characterization of relationships between health conditions and aging. However, longitudinal analysis of body composition changes using these scans is difficult due to positional variation between slices acquired in different years, which leads to different organs/tissues being captured. APPROACH: To address this issue, we propose C-SliceGen, which takes an arbitrary axial slice in the abdominal region as a condition and generates a pre-defined vertebral level slice by estimating structural changes in the latent space...
March 2024: Journal of Medical Imaging
https://read.qxmd.com/read/38563834/tumor-infiltrating-lymphocytes-in-triple-negative-breast-cancer
#16
JOURNAL ARTICLE
Roberto A Leon-Ferre, Sarah Flora Jonas, Roberto Salgado, Sherene Loi, Vincent de Jong, Jodi M Carter, Torsten O Nielsen, Samuel Leung, Nazia Riaz, Stephen Chia, Gérôme Jules-Clément, Giuseppe Curigliano, Carmen Criscitiello, Vincent Cockenpot, Matteo Lambertini, Vera J Suman, Barbro Linderholm, John W M Martens, Carolien H M van Deurzen, A Mieke Timmermans, Tatsunori Shimoi, Shu Yazaki, Masayuki Yoshida, Sung-Bae Kim, Hee Jin Lee, Maria Vittoria Dieci, Guillaume Bataillon, Anne Vincent-Salomon, Fabrice André, Marleen Kok, Sabine C Linn, Matthew P Goetz, Stefan Michiels
IMPORTANCE: The association of tumor-infiltrating lymphocyte (TIL) abundance in breast cancer tissue with cancer recurrence and death in patients with early-stage triple-negative breast cancer (TNBC) who are not treated with adjuvant or neoadjuvant chemotherapy is unclear. OBJECTIVE: To study the association of TIL abundance in breast cancer tissue with survival among patients with early-stage TNBC who were treated with locoregional therapy but no chemotherapy. DESIGN, SETTING, AND PARTICIPANTS: Retrospective pooled analysis of individual patient-level data from 13 participating centers in North America (Rochester, Minnesota; Vancouver, British Columbia, Canada), Europe (Paris, Lyon, and Villejuif, France; Amsterdam and Rotterdam, the Netherlands; Milan, Padova, and Genova, Italy; Gothenburg, Sweden), and Asia (Tokyo, Japan; Seoul, Korea), including 1966 participants diagnosed with TNBC between 1979 and 2017 (with follow-up until September 27, 2021) who received treatment with surgery with or without radiotherapy but no adjuvant or neoadjuvant chemotherapy...
April 2, 2024: JAMA
https://read.qxmd.com/read/38558239/the-standardized-ileal-digestible-lysine-to-net-energy-ratio-in-the-diets-of-sows-to-optimize-milk-nitrogen-retention-is-dynamic-during-lactation
#17
JOURNAL ARTICLE
Madelaine C Watzeck, Lee-Anne Huber
Fifty-two multiparous sows (average parity 3.1 ± 0.9 and initial BW 245.6 ± 32.5 kg) were used to evaluate the effects of dietary standardized ileal digestible (SID) Lys-to-net energy (NE) ratios on nitrogen (N) utilization throughout a 24-day lactation period. Sows were randomly assigned to one of five isoenergetic feeding programs that provided equally spaced and increasing SID Lys-to-NE ratios between 2.79 and 5.50 g SID Lys/Mcal NE. The feeding programs were generated by blending the two extreme diets in varying proportions and were provided to sows immediately after farrowing (d1) and until weaning at d24 ± 1...
April 1, 2024: Journal of Animal Science
https://read.qxmd.com/read/38552658/clinical-and-biological-landscape-of-constitutional-mismatch-repair-deficiency-syndrome-an-international-replication-repair-deficiency-consortium-cohort-study
#18
JOURNAL ARTICLE
Ayse Bahar Ercan, Melyssa Aronson, Nicholas R Fernandez, Yuan Chang, Adrian Levine, Zhihui Amy Liu, Logine Negm, Melissa Edwards, Vanessa Bianchi, Lucie Stengs, Jiil Chung, Abeer Al-Battashi, Agnes Reschke, Alex Lion, Alia Ahmad, Alvaro Lassaletta, Alyssa T Reddy, Amir F Al-Darraji, Amish C Shah, An Van Damme, Anne Bendel, Aqeela Rashid, Ashley S Margol, Bethany L Kelly, Bojana Pencheva, Brandie Heald, Brianna Lemieux-Anglin, Bruce Crooks, Carl Koschmann, Catherine Gilpin, Christopher C Porter, David Gass, David Samuel, David S Ziegler, Deborah T Blumenthal, Dennis John Kuo, Dima Hamideh, Donald Basel, Dong-Anh Khuong-Quang, Duncan Stearns, Enrico Opocher, Fernando Carceller, Hagit Baris Feldman, Helen Toledano, Ira Winer, Isabelle Scheers, Ivana Fedorakova, Jack M Su, Jaime Vengoechea, Jaroslav Sterba, Jeffrey Knipstein, Jordan R Hansford, Julieta Rita Gonzales-Santos, Kanika Bhatia, Kevin J Bielamowicz, Khurram Minhas, Kim E Nichols, Kristina A Cole, Lynette Penney, Magnus Aasved Hjort, Magnus Sabel, Maria Joao Gil-da-Costa, Matthew J Murray, Matthew Miller, Maude L Blundell, Maura Massimino, Maysa Al-Hussaini, Mazin F Al-Jadiry, Melanie A Comito, Michael Osborn, Michael P Link, Michal Zapotocky, Mithra Ghalibafian, Najma Shaheen, Naureen Mushtaq, Nicolas Waespe, Nobuko Hijiya, Noemi Fuentes-Bolanos, Olfat Ahmad, Omar Chamdine, Paromita Roy, Pavel N Pichurin, Per Nyman, Rachel Pearlman, Rebecca C Auer, Reghu K Sukumaran, Rejin Kebudi, Rina Dvir, Robert Raphael, Ronit Elhasid, Rose B McGee, Rose Chami, Ryan Noss, Ryuma Tanaka, Salmo Raskin, Santanu Sen, Scott Lindhorst, Sebastien Perreault, Shani Caspi, Shazia Riaz, Shlomi Constantini, Sophie Albert, Stanley Chaleff, Stefan Bielack, Stefano Chiaravalli, Stuart Louis Cramer, Sumita Roy, Suzanne Cahn, Suzanne Penna, Syed Ahmer Hamid, Tariq Ghafoor, Uzma Imam, Valerie Larouche, Vanan Magimairajan Issai, William D Foulkes, Yi Yen Lee, Paul C Nathan, Yosef E Maruvka, Mary-Louise C Greer, Carol Durno, Adam Shlien, Birgit Ertl-Wagner, Anita Villani, David Malkin, Cynthia Hawkins, Eric Bouffet, Anirban Das, Uri Tabori
BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and aggressive cancer predisposition syndrome. Because a scarcity of data on this condition contributes to management challenges and poor outcomes, we aimed to describe the clinical spectrum, cancer biology, and impact of genetics on patient survival in CMMRD. METHODS: In this cohort study, we collected cross-sectional and longitudinal data on all patients with CMMRD, with no age limits, registered with the International Replication Repair Deficiency Consortium (IRRDC) across more than 50 countries...
March 26, 2024: Lancet Oncology
https://read.qxmd.com/read/38537680/dosimetric-parameters-predict-radiation-induced-temporal-lobe-necrosis-in-nasopharyngeal-carcinoma-patients-a-systematic-review-and-meta-analysis
#19
JOURNAL ARTICLE
Jun Dong, Wai Tong Ng, Charlene H L Wong, Ji-Shi Li, Heleen Bollen, James C H Chow, Avraham Eisbruch, Anne W M Lee, Victor H F Lee, Sweet Ping Ng, Sandra Nuyts, Robert Smee, Alfio Ferlito
This systematic review examines the role of dosimetric parameters in predicting temporal lobe necrosis (TLN) risk in nasopharyngeal carcinoma (NPC) patients treated with three-dimensional conformal RT (3D-CRT), intensity-modulated radiation therapy (IMRT) and volumetric modulated arc therapy (VMAT). TLN is a serious late complication that can adversely affect the quality of life of NPC patients. Understanding the relationship between dosimetric parameters and TLN can guide treatment planning and minimize radiation-related complications...
March 25, 2024: Radiotherapy and Oncology
https://read.qxmd.com/read/38531898/expanding-the-clinical-spectrum-of-biglycan-related-meester-loeys-syndrome
#20
JOURNAL ARTICLE
Josephina A N Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S Atwal, Antoine Benichou, Clarisse Billon, Jan D Blankensteijn, Paul Brennan, Stephanie A Bucks, Ian M Campbell, Solène Conrad, Stephanie L Curtis, Majed Dasouki, Carolyn L Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari-Tiri, Liina Kuulavainen, Kelvin Lee, Karen J Low, Alan C Lu, Morgan L McManus, Stephen P Oakley, James Oliver, Nicole M Organ, Eline Overwater, Nicole Revencu, Alison H Trainer, Bhavya Trivedi, Claire L S Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart L Loeys
Pathogenic loss-of-function variants in BGN, an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrome (MRLS), a thoracic aortic aneurysm/dissection syndrome. Since the initial publication of five probands in 2017, we have considerably expanded our MRLS cohort to a total of 18 probands (16 males and 2 females). Segregation analyses identified 36 additional BGN variant-harboring family members (9 males and 27 females). The identified BGN variants were shown to lead to loss-of-function by cDNA and Western Blot analyses of skin fibroblasts or were strongly predicted to lead to loss-of-function based on the nature of the variant...
March 26, 2024: NPJ Genomic Medicine
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