Results 181 to 190 of about 36,061 (316)

Echocardiographic Evaluation in Kawasaki Disease. [PDF]

J Med Ultrasound
Hwang B.
europepmc   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Coronary Angioscopy and Optical Coherence Tomography Assessment of the Pathophysiology of Intraplaque Hemorrhage. [PDF]

JACC Case Rep
Kimura S, Fujii H, Yamaguchi Y, Isobe S, Iwasawa J, Tamura Y, Goya M.   +6 more
europepmc   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Pathologic observations in human allograft recipients treated with FK 506 [PDF]

, 1990
Banner, B, Demetris, AJ, Fung, JJ, Starzl, TE, Sysyn, G, Todo, S, Zerbe, T   +6 more
core  

Extensive Invasion of the Pelvicalyceal System Shortly After Combined Locoregional Treatment of Renal Cell Carcinoma: A Report of an Unusual Complication. [PDF]

Cureus
Moschouris H, Stylianou C, Adamaki T, Evripidi DE, Arvanitidis K.   +4 more
europepmc   +1 more source

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

Immunoglobulin G4-related sclerosing cholecystitis presenting as gallbladder cancer: a case report [PDF]

, 2015
Ayaka Tsuboi, Emi Ota, Hideki Asakawa, Hideto Ito, Kazuhito Mita, Keiichi Fujino, Kodai Takahashi, Masatoshi Hashimoto, Sigeru Okamoto, Takashi Hayashi, Toshio Katsube   +10 more
core   +1 more source

Congenital Toxoplasmosis With Atypical Neuroimaging: Hydrocephalus and Bilateral Chorioretinitis Without Intracranial Calcifications. [PDF]

Case Rep Radiol
Dhakal S, Regmi PR, Dhakal P, Adhikari B, Shingh SS, Paudel BS.   +5 more
europepmc   +1 more source