Results 41 to 50 of about 198,266 (267)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

PRINCIPLES OF COMBINED ESOPHAGEAL IMPEDANCE-PH MONITORING IN CHILDREN: INDICATIONS, BENEFITS AND LIMITATIONS [PDF]

Romanian Journal of Pediatrics, 2014
The standard test for suspected gastroesophageal refl ux is pH monitoring. However, the majority of gastroesophageal refl ux episodes in infants and children are nonacidic (pH > 4) and extraesophageal symptoms apparently can be caused by both acidic (pH <
Mihai-Mirel Stoicescu, Felicia Galos, Mihai Munteanu, Simina Visan, Coriolan Ulmeanu, Mihaela Balgradean   +5 more
doaj   +1 more source

Characteristics and Outcomes of Male Participants in a Multicenter Longitudinal Australian Study Cohort

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to determine the differences in demographic, serologic, and clinical characteristics between male and female patients with systemic sclerosis (SSc) in an Australian cohort. Methods This was a retrospective observational study using data from the Australian Scleroderma Cohort Study.
Emily Lin, Dylan Hansen, Laura Ross, Gene‐Siew Ngian, Susanna Proudman, Gabor Major, Maryam Tabesh, Mandana Nikpour, Jennifer Walker, Lauren Host, Nava Ferdowsi, Alannah Quinlivan, Wendy Stevens, Joanne Sahhar, Diane Apostolopoulos   +14 more
wiley   +1 more source

Discordance Between Patient and Physician Global Assessments in Early Systemic Sclerosis

Arthritis Care &Research, EarlyView.
Objective This study aims to identify factors associated with patient global assessment (PtGA) and physician global assessment (PhGA) and discordance between them in systemic sclerosis (SSc). Methods Data from adults with early SSc (<5 years) from the Collaborative National Quality and Efficacy Registry were included.
Ellen Romich, Alexis Ogdie, Alisa Stephens Shields, Peter A. Merkel, Shervin Assassi, Elana J. Bernstein, Andreea Bujor, Flavia V. Castelino, Lorinda Chung, Luke B. Evnin, Tracy M. Frech, Jessica K. Gordon, Melissa Griffith, Faye N. Hant, Monica L. Harding, Laura K. Hummers, Dinesh Khanna, Kimberly S. Lakin, Dorota J. Lebiedz‐Odrobina, Yiming Luo, Ashima Makol, Maureen D. Mayes, Zsuzsanna H. McMahan, Jerry Molitor, Duncan F. Moore, Julie Paik, Carrie Richardson, Brian Skaug, Ami A. Shah, Ankoor Shah, Virginia Steen, John M. VanBuren, Elizabeth R. Volkmann, Carleigh Zahn, Nora Sandorfi, for the CONQUER Investigators   +35 more
wiley   +1 more source

Immunosuppressive Drug Use in Limited Systemic Sclerosis: An International Survey

Arthritis Care &Research, EarlyView.
Objective Current guidelines recommend immunosuppressive treatment for diffuse cutaneous systemic sclerosis but are less clear on their use in limited cutaneous systemic sclerosis (lcSSc) in the absence of internal organ complications. We conducted an international survey to understand current immunosuppressive drug prescribing patterns in lcSSc ...
Sabrina Hoa, Yicheng Mu, Marie Hudson, Janet Pope   +3 more
wiley   +1 more source

Clinical outcomes of EGFR-TKI in advanced lung squamous cell carcinoma and EGFR-TKI remodel tumor immune microenvironment

Annals of Medicine
Background Clinical data is scarce in epidermal growth factor receptor (EGFR)-mutated lung squamous cell carcinoma (LUSC), and the resistance mechanisms to EGFR-tyrosine kinase inhibitor (TKI) is rarely studied. This study aimed to assess the efficacy of
Zhixin Chen, Jiali Gong, Jing Chen, Lan Yang, Shumin Hu, Lingru Chen, Hongyang Lu   +6 more
doaj   +1 more source

The Gut–Heart Axis in Systemic Sclerosis: Evidence From a Large Prospective Early Disease Cohort

Arthritis Care &Research, EarlyView.
Objective Cardiac involvement significantly impacts prognosis in systemic sclerosis (SSc), highlighting the need for early risk stratification. Gastrointestinal (GI) symptoms are common and often manifest early. Emerging data suggest a link between GI and cardiac manifestations, possibly through shared mechanisms like dysautonomia.
Francesca R. Di Ciommo, Ashish P. Balar, Aidan K. Strother, Subhash Kulkarni, Michael Hughes, Brian Skaug, Maureen D. Mayes, Shervin Assassi, Ali Y. Ayla, Zsuzsanna H. McMahan   +9 more
wiley   +1 more source

Pulmonary salivary gland tumor–hyalinizing clear cell carcinoma: a literature review

Diagnostic Pathology
Primary pulmonary hyalinizing clear cell carcinoma (HCCC) is a very rare lung tumor that accounts for less than 0.09% of all primary lung tumors and has no specific epidemiology.
Xinyuan Wang, Shumin Hu, Hongyang Lu
doaj   +1 more source

Current Management of High-Risk Barrett's Adenocarcinoma: How Deep Can We Dive Endoscopically?

Journal of Digestive Endoscopy
The proliferation of advanced endoscopic resection techniques has provided a minimally invasive alternative to esophagectomy and revolutionized outcomes for patients with early-stage esophageal adenocarcinoma (EAC).
Niroshan Muwanwella, Allon Kahn, Krish Ragunath, Prasad G. Iyer   +3 more
doaj   +1 more source

Understanding the Burden of Orofacial Involvement and Patient Treatment Preferences in Systemic Sclerosis: Results From a Large International Survey

Arthritis Care &Research, EarlyView.
Objective Orofacial manifestations are significantly impactful in patients with systemic sclerosis (SSc) yet remain understudied, with no dedicated clinical guidelines to inform their management. Methods An international online survey comprised38 questions addressing orofacial manifestations of SSc, including patients’ confidence in their treating ...
Eleni Deligianni, Lee Shapiro, Deana Gibbs, Zsuzsanna H. McMahan, Michael Hughes   +4 more
wiley   +1 more source