Results 151 to 160 of about 190,847 (266)

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

PRO-ADD: Patient-empowered dose-finding trials integrating safety, preliminary efficacy and patient-reported outcomes for optimal dose selection. [PDF]

Stat Methods Med Res
Alger E, Mandrekar SJ, Yin J, Yap C.
europepmc   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

Optimising patient centred drug development to realise impact. [PDF]

Commun Med (Lond)
Calvert M, Kamudoni P, Yap C, Snyder C, Wilson R, Aiyegbusi OL.   +5 more
europepmc   +1 more source

Effect of Budesonide Nasal Irrigation in Patients With Chronic Rhinosinusitis With Nasal Polyps Without Prior Sinus Surgery: A Randomized, Double‐Blind, Placebo‐Controlled Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The indication for nasal irrigation with corticosteroids after sinus surgery in patients with Chronic Rhinosinusitis with Nasal Polyps (CRSwNP) is well established, as surgery facilitates distribution throughout the sinonasal cavity.
Juliana Sant'Ana, Isabela Pontes, Caio Floriano, Renato Rios, Marlos Cortez, Marcel Miyake   +5 more
wiley   +1 more source

Estimated Oral Semaglutide Exposure Has Distinct Relationships With Glycaemic Response, Weight Loss and Gastrointestinal Tolerability. [PDF]

Diabetes Obes Metab
Fadini GP, Morieri ML, Boscaro C, Bonora BM, Cignarella A.   +4 more
europepmc   +1 more source

Dosing Interval Extension of Dupilumab in CRSwNP: Five‐Year Real World Outcomes

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is a persistent, often Type 2‐mediated inflammatory disease that markedly impairs quality of life. While dupilumab provides rapid improvement, there is limited evidence on long‐term outcomes beyond 2 years, and the clinical impact of dosing‐interval extension remains unclear.
Nicholas J. Campion, Dioni‐Pinelopi Petsiou, Florian C. Fally, Karina Berbalk, Noah F. Melamed, Aldine Tu, Christina Morgenstern, Fana Alem Kidane, Mohammed Zghaebi, Linda Liu, Minghao Pan, Tina J. Bartosik, Victoria Stanek, Katarina Gangl, Julia Eckl‐Dorna, Sven Schneider   +15 more
wiley   +1 more source

Ultra-Low-Dose Isotretinoin for Acne: A Pilot Evaluation of Efficacy and Tolerability in Chinese Patients. [PDF]

J Cosmet Dermatol
Shi S, Liu J, Pan L, Hua W.
europepmc   +1 more source

Effect of Laser Posterior Nasal Neurolysis for the Treatment of Chronic Rhinitis: A Randomized Controlled Trial

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background To determine the safety and efficacy of laser ablation of the posterior nasal nerve (PNN) for the treatment of chronic rhinitis. Methods This study was a single‐center, prospective, single‐blinded, randomized sham‐controlled trial. Patients with a 24‐h reflective Total Nasal Symptom Score (rTNSS) ≧ 5, rhinorrhea ≧ 2, and congestion ≧
Jyun‐Yi Liao, En‐Ying Wang, Ying‐Shuo Hsu, Ming‐Shao Tsai, Cheng‐Jung Wu, Chia‐Hao Chang, Yi‐Li Hwang, Han‐Lo Teng, Jun‐Wei Hsieh, Chien‐Yu Huang   +9 more
wiley   +1 more source