Results 221 to 230 of about 1,460,646 (299)

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Liposomal amphotericin B as an antifungal prophylaxis in bilateral lung transplantation: a safety analysis. [PDF]

BMC Pharmacol Toxicol
Boscolo A, Sella N, Congedi S, Paiusco I, Pistollato E, Zanaga A, Chiapperini F, Zarantonello F, Mormando G, Pagliarini G, De Cassai A, Pettenuzzo T, Dell'Amore A, Navalesi P.   +13 more
europepmc   +1 more source

Transplantation of the Lung: Lung and Heart-Lung Transplantation.

Jinko Zoki, 1994
openaire   +1 more source

Environmental Exposures, Chronic Sinusitis, and Olfaction in People With Cystic Fibrosis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Environmental air pollutants may contribute to chronic rhinosinusitis (CRS), but their relationship with upper airway disease in people with cystic fibrosis (CF) remains poorly understood. This study evaluated associations between long‐term ambient air pollutant exposure and CRS severity and olfactory dysfunction in adults with CF ...
Benton Tullis, Larissa Nicolas, Jeremiah A. Alt, Todd E. Bodner, Michael Chang, Naweed I. Chowdhury, Sei Chung, Patricia Eshaghian, Yuqing A. Gao, Anne Getz, Amarbir S. Gill, Peter H. Hwang, Ashoke Khanwalkar, Adam J. Kimple, Todd Kingdom, Jivianne T. Lee, Douglas A. Li, Jess C. Mace, Jayakar V. Nayak, Meghan Norris, Jonathan B. Overdevest, Zara M. Patel, Katie Poch, Rodney J. Schlosser, Kristine A. Smith, Zachary M. Soler, Jeffrey D. Suh, Grant A. Turner, Marilene B. Wang, Milene T. Saavedra, Jennifer L. Taylor, Daniel M. Beswick   +31 more
wiley   +1 more source

Single-shot intrathecal morphine in bilateral lung transplantation: Early experience and feasibility. [PDF]

JHLT Open
Pearce H, Patvardhan C.
europepmc   +1 more source

Impact of Highly Effective Modulator Therapy on Olfactory‐Specific Gene Expression in People With Cystic Fibrosis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis is common in people with cystic fibrosis (PwCF). Highly effective modulator therapy (HEMT) has been shown to improve sinonasal outcomes. However, prior studies failed to show improvement in objective olfaction with HEMT, and the impact of HEMT on olfactory‐specific quality of life has yet to be studied ...
Michael R. Xiang, Ankit Chauhan, Gina Hong, Denis Hadjiliadis, Daniel Dorgan, Michael M. Rey, Samantha Kane, James N. Palmer, Nithin D. Adappa, Noam A. Cohen, Michael A. Kohanski, Jennifer E. Douglas   +11 more
wiley   +1 more source

Pre-transplant HbA1c and BMI are associated with long-term survival after lung transplantation. [PDF]

Transpl Int
Rosselli Z, Saccarello L, Macedo A, Gaisl T, Steinack C, Pumo F, Atasayar N, Lang G, Senbaklavaci Ö, Opitz I, Dubach IL, Ulrich S, Müller J, Hage R, Schuurmans MM.   +14 more
europepmc   +1 more source

Olfactory Function in Cystic Fibrosis: Outcome Measures, Olfactory Dysfunction Prevalence and the Impact of Management—A Systematic Review and Meta‐Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction (OD) is an increasingly recognized but under‐investigated comorbidity of cystic fibrosis (CF). Its prevalence, assessment methods, and response to CF‐directed treatment, including highly effective modulator therapy (HEMT) remains incompletely characterized.
Luca Cox, Kofi Cox, Katherine Whitcroft, Susanne Weise, Sonal Kansra, Eishaan Bhargava   +5 more
wiley   +1 more source

Global strategies to improve equitable access to heart and lung transplantation- ISHLT Consortium Report. [PDF]

JHLT Open
Breathett K, Contreras J, Lewsey S, Grossi AA, Kim KH, Akilzhanova A, Amubieya O, Avdimiretz N, Boyle A, Duhaney L, Guerrero C, Ilonze O, Keyt H, Kleinmahon J, Moreno JCL, Montes L, Montgomery M, Morley-Smith A, Olm F, Prasad J, Rakhimova S, Seijo L, Potena L.   +22 more
europepmc   +1 more source

The Nuclear Receptor Testicular Receptor 4 Orchestrates Cytoskeletal Organization in a G Protein Subunit Alpha 12/Rho‐Associated Protein Kinase–Dependent Manner to Promote Myofibroblast Differentiation and Tissue Fibrosis in Systemic Sclerosis

Arthritis &Rheumatology, EarlyView.
Objective Members of the superfamily of nuclear receptors have been implicated in inflammatory processes and pathologic tissue remodeling and have emerged as attractive targets for pharmaceutical intervention. However, the role of testicular receptor 4 (TR4; or Nr2c2) in fibroblast activation and rheumatologic diseases has not yet been investigated ...
Yun Zhang, Lichong Shen, Junhui Zheng, Gisela Baur, Dilidaer Yasen, Honglin Zhu, Yi‐Nan Li, Xianyi Meng, Thuong Trinh‐Minh, Tim Filla, Debomita Chakraborty, Andrea‐Hermina Györfi, Christina Bergmann, Adam Reich, Alexander Kreuter, Georg Schett, Jörg H. W. Distler   +16 more
wiley   +1 more source