Results 101 to 110 of about 7,423 (270)

Mucocutaneous Disease Activity and Damage Accrual in Systemic Lupus Erythematosus: Analyses From the Asia‐Pacific Lupus Collaboration Longitudinal Cohort Study

Arthritis Care &Research, EarlyView.
Objective This research article aims to describe the prevalence, associations, and health‐related quality of life (HRQoL) impact of mucocutaneous features of systemic lupus erythematosus (SLE). Methods Data from the Asia‐Pacific Lupus Collaboration cohort were analyzed (2013–2021).
Amanda M. Saracino, Yanjie Hao, Dylan Hansen, Yi‐Hsing Chen, Alberta Hoi, Vera Golder, Jiacai Cho, Aisha Lateef, Worawit Louthrenoo, Laniyati Hamijoyo, Shue Fen Luo, Yeong‐Jian Jan Wu, Sandra Navarra, Leonid Zamora, Chak Sing Lau, Shirley Chan, Zhanguo Li, Hai‐hong Yao, Sargunan Sockalingam, B. M. D. B. Basnayake, Yasuhiro Katsumata, Masayoshi Harigai, Zhuoli Zhang, Jun Kikuchi, Yuko Kaneko, Tsutomu Takeuchi, Madelynn Chan, Sang‐Cheol Bae, Fiona Goldblatt, Sean O'Neill, Geraldine Hassett, Kristine Ng, Nicola Tugnet, Mark Sapsford, Yih Jia Poh, Michael Tee, Cherica Tee, Naoaki Ohkubo, Yoshiya Tanaka, Rangi Kandane‐Rathnayake, Eric Morand, Shereen Oon, Mandana Nikpour   +42 more
wiley   +1 more source

Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous‐Heterozygous Mosaicism of Ectrodactyly‐Ectodermal Dysplasia‐Clefting Syndrome

Stem Cells Translational Medicine, 2016
Ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome is a rare autosomal dominant disease caused by mutations in the p63 gene. To date, approximately 40 different p63 mutations have been identified, all heterozygous.
Vanessa Barbaro, Annamaria Assunta Nasti, Paolo Raffa, Angelo Migliorati, Patrizia Nespeca, Stefano Ferrari, Elisa Palumbo, Marina Bertolin, Claudia Breda, Francesco Miceli, Antonella Russo, Luciana Caenazzo, Diego Ponzin, Giorgio Palù, Cristina Parolin, Enzo Di Iorio   +15 more
doaj   +1 more source

Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report. [PDF]

Cureus, 2023
Mohd Jais MF, Wan Dien T, Ang WJ, Raja Omar RN, Mohamad NF.   +4 more
europepmc   +1 more source

Oral phenotypes in EEC syndrome: contribution to the clinical genetic detailing of the syndrome

A fissura labiopalatina (FLP) é a malformação mais comum diagnosticada na região craniofacial em recém-nascidos vivos. No Brasil, possui uma prevalência de aproximadamente 1:650 nascidos vivos.
Azevedo, Maria Cecilia de
core   +1 more source

Cracking the Code: Which Ocular Symptoms Predict Dry Eye Signs? Insights From a Large International Sicca Registry

Arthritis Care &Research, EarlyView.
Objective The study aimed to identify symptom‐based predictors of dry eye disease (DED) signs in the Sjögren's International Collaborative Clinical Alliance (SICCA) cohort. Methods We performed a retrospective analysis examining 16 ocular symptoms (most graded 0–4) and artificial tear (AT) use (graded 0–3) as predictors of DED signs (abnormal ocular ...
Pragnya R. Donthineni, Chloe Shields, Rohit Muralidhar, Shreya Bhatt, Alan Baer, Robert Fox, Sara S. McCoy, Anat Galor   +7 more
wiley   +1 more source

Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function [PDF]

, 2016
Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome is a rare autosomal dominant disease caused by heterozygous mutations in the p63 gene and characterized by limb defects, orofacial clefting, ectodermal dysplasia, and ocular defects.
PALU', GIORGIO, Parolin, Cristina, Ferrari, Stefano, Di Iorio, Enzo, NASTI, ANNAMARIA ASSUNTA, Ponzin, Diego, Willoughby, Colin E., Nasti, Annamaria A., Barbaro, Vanessa, Lariccia, Vincenzo, MIGLIORATI, ANGELO, PAROLIN, MARIA CRISTINA, RAFFA, PAOLO, NESPECA, PATRIZIA, Palù, Giorgio, DEL VECCHIO, CLAUDIA, Willoughby, Colin, DI IORIO, MARIO VINCENZO, Biasolo, Mariangela   +18 more
core   +1 more source

Real‐World Longitudinal Data on the Impact of Hydroxychloroquine Blood Level Monitoring on Lupus Outcomes: Results of a Prospective Longitudinal Cohort Study

Arthritis Care &Research, EarlyView.
Objective Hydroxychloroquine (HCQ) is a cornerstone therapy in systemic lupus erythematosus (SLE), but the weight‐based dosing does not account for clinical factors that can introduce individual variability in drug metabolism and clearance. We leveraged longitudinal data from a prospective SLE cohort to identify clinical factors that predict ...
Jay J. Patel, Fauzia Hollangel, Caroline Packee, Amita Kapoor, Brad Rovin, Nathalie Costedoat‐Chalumeau, Shivani Garg   +6 more
wiley   +1 more source

Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene

Stem Cell Research, 2018
Oral mucosa epithelial stem cells from a patient affected by Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome carrying the R279H mutation in the TP63 gene were reprogrammed into human induced pluripotent stem cells (hiPSCs) with episomal vectors.
Marta Trevisan, Enzo Di Iorio, Giulia Masi, Silvia Riccetti, Luisa Barzon, Gualtiero Alvisi, Luciana Caenazzo, Vanessa Barbaro, Giorgio Palù   +8 more
doaj   +1 more source

Race and Household Income Are Associated With Disease Outcomes in Pediatric Patients With Antineutrophil Cytoplasmic Antibody–Associated Vasculitis Hospitalized in the United States

Arthritis Care &Research, EarlyView.
Objective Race and household income impact outcomes in patients with rheumatic conditions; however, their role in pediatric antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis (AAV) remains poorly understood. We aimed to evaluate whether race and ethnicity and household income are associated with severe AAV disease and renal outcomes among
Roberto Alejandro Valdovinos, William Daniel Soulsby III, Emily von Scheven   +2 more
wiley   +1 more source

A Case of Ectrodactyly, Ectodermal Dysplasia, Cleft Lip and Palate Syndrome Associated with Hydrocephaly

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013
Ectrodactyly, ectodermal dysplasia, cleft lip, and palate syndrome (EEC) is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia and orofacial clefts (cleft lip/ palate). A few cases have been reported in literature.
Buket Uysal Aladag, Fatma Hilal Yilmaz, Nadir Kocak, Ali Annagur   +3 more
doaj