Results 91 to 100 of about 303,187 (263)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Case Report of a Transplant Renal Artery Stenosis: Delayed Diagnosis, Correct Treatment

Turkish Journal of Nephrology, 2019
Renal artery stenosis is observed in 1-23% of the transplanted kidneys. It may result in graft dysfunction and hypertension but anuria is rare in patients with graft renal artery stenosis.
Ayhan HASPULAT, İbrahim AKDAĞ, Hadim AKOĞLU, Güner KARAVELİ GÜRSOY, Özlem YAYAR, Zafer ERCAN, Özgür MERHAMETSİZ, Ebru GÖK OĞUZ, Tolga YILDIRIM, Deniz AYLI   +9 more
doaj  

Analysis of energy expenditure and behavioral characteristics in different mouse strains under normal and disease conditions

Animal Models and Experimental Medicine, EarlyView.
Mouse metabolic and behavioral phenotypes are tightly linked to strain, age and disease state, with distinct dysregulation in each disease model, underscoring the need for standardized preclinical experimental conditions. Abstract Background Metabolic and behavioral traits in mice exhibit substantial variability across strains, ages, and disease states,
Jiacheng Zeng, Yuanjun Ji, Yan Zou, Jing Tan, Teng Wu, Conghui Shen, Tongsheng Huang, Shijie Xiong, Mengying Liu, Maoquan Yang, Jingwei Lai, Jiangwei Ma, Junhong Wan, Xinlu Fu, Jiang Qian, Hui Li, Ludong Yuan, Weibin Cai   +17 more
wiley   +1 more source

Age Is an Effect Modifier of Thrombectomy Benefit in a Socioeconomically Vulnerable Stroke Population

Annals of Neurology, EarlyView.
Objective Randomized trials from high‐income countries have shown that endovascular treatment (EVT) yields similar benefits in elderly and non‐elderly patients with large vessel occlusion stroke (LVOS). However, evidence from low/middle‐income countries remains scarce.
Fabricio O. Lima, Francisco José de A. Mont'Alverne, Letícia C. Rebello, Daniel G. Abud, Gisele S. Silva, Michel E. Frudit, Mário B. Wagner, Jamary Oliveira‐Filho, Diogo C. Haussen, David S. Liebeskind, Octávio M. Pontes‐Neto, Norberto A.F. Frota, Guilherme Dabus, Gabriel R. de Freitas, Adson F. de Lucena, Jeffrey L. Saver, Raul G. Nogueira, Sheila C.O. Martins, for the RESILIENT Trial Investigators   +18 more
wiley   +1 more source

Tunable Regional Targeting of Self‐Assembling Peptide Nanomaterials in Acute Myocardial Infarction

Advanced NanoBiomed Research, EarlyView.
In a rat model of acute myocardial infarction, intravascular delivery of peptide nanofibers with a collagen‐targeting peptide bound to the infarct vasculature while globular peptide nanoparticles penetrated into the infarct area. This study demonstrated that size, shape, and surface chemistry of nanomaterials control the delivery location within the ...
Alexander Chen, Michael B. Nguyen, Elliot Widd, Julian Cheng, Benjamin D. Bridgelal, Kate E. Reimold, Selena Cao, Connor Uhre, Houston Harding, Chloe Hurteau, Anika Yogi, Colin Luo, Rebecca L. Braden, Pedro Cabrales, Karen L. Christman   +14 more
wiley   +1 more source

Does salinity make a difference—Kidney anatomy of Saimaa (Pusa saimensis) and Baltic ringed seals (Pusa hispida botnica)

The Anatomical Record, EarlyView.
Abstract As habitat salinity markedly differs between the endangered, freshwater‐dwelling Saimaa ringed seal (Pusa saimensis Nordquist, 1899) and the brackish water‐inhabiting Baltic ringed seal (Pusa hispida botnica Gmelin, 1788), we investigated whether this difference has resulted in morphological changes to their kidneys.
Heini Nihtilä, Juha Laakkonen
wiley   +1 more source

Outcomes after stenting of renal artery stenosis in patients with high-risk clinical features

The Egyptian Heart Journal
Background In patients with renal artery stenosis, revascularization was seen as a mean to improve outcomes, but large studies failed to show significant benefit in general population.
Calin Homorodean, Mihai Claudiu Ober, Mihail Spinu, Maria Olinic, Dan-Alexandru Tataru, Horea Laurentiu Onea, Alexandru Achim, Leontin Florin Lazar, Romana Homorodean, Balasz Deak, Dan Mircea Olinic   +10 more
doaj   +1 more source

Unveiling Endotypes in Systemic Lupus Erythematosus Through Multiomic Analysis: Insights Into Cardiovascular and Renal Complications

Arthritis &Rheumatology, EarlyView.
Objective Systemic lupus erythematosus (SLE) shows clinical and molecular heterogeneity, and cardiovascular (CV) complications and lupus nephritis (LN) remain leading causes of morbidity and mortality. This study investigated whether omic profiling can reveal molecular endotypes linked to these outcomes.
Tomás Cerdó, Laurel Woodridge, Sagrario Corrales, Juan Rafael Muñoz‐Castañeda, Ana Isabel Torralbo, Anisur Rahman, Filipa Farinha, Rafaela Ortega Castro, Pedro Segui, Ismael Sanchez‐Pareja, Laura Muñoz‐Barrera, Christian Merlo, Desiree Ruiz‐Vilchez, M. Carmen Ábalos‐Aguilera, Pilar Font, Nuria Barbarroja Puerto, PRECISESADS Clinical Consortium, Lorenzo Beretta, Barbara Vigone, Jacques‐Olivier Pers, Alain Saraux, Valérie Devauchelle‐Pensec, Divi Cornec, Sandrine Jousse‐Joulin, Bernard Lauwerys, Julie Ducreux, Anne‐Lise Maudoux, Carlos Vasconcelos, Ana Tavares, Esmeralda Neves, Raquel Faria, Mariana Brandão, Ana Campar, António Marinho, Fátima Farinha, Isabel Almeida, Miguel Angel Gonzalez‐Gay Mantecón, Ricardo Blanco Alonso, Alfonso Corrales Martínez, Ricard Cervera, Ignasi Rodríguez‐Pintó, Gerard Espinosa, Rik Lories, Ellen De Langhe, Nicolas Hunzelmann, Doreen Belz, Torsten Witte, Niklas Baerlecken, Georg Stummvoll, Michael Zauner, Michaela Lehner, Eduardo Collantes, Ma Carmen Castro‐Villegas, Norberto Ortego, María Concepción Fernández Roldán, Enrique Raya, Inmaculada Jiménez Moleón, Enrique de Ramon, Isabel Díaz Quintero, Pier Luigi Meroni, Maria Gerosa, Tommaso Schioppo, Carolina Artusi, Carlo Chizzolini, Aleksandra Zuber, Donatienne Wynar, Laszló Kovács, Attila Balog, Magdolna Deák, Márta Bocskai, Sonja Dulic, Gabriella Kádár, Falk Hiepe, Velia Gerl, Silvia Thiel, Manuel Rodriguez Maresca, Antonio López‐Berrio, Rocío Aguilar‐Quesada, Héctor Navarro‐Linares, Marta Alarcón‐Riquelme, Alejandro Escudero‐Contreras, M. Ángeles Aguirre‐Zamorano, Carlos Perez‐Sanchez, Elizabeth C. Jury, Chary Lopez‐Pedrera   +84 more
wiley   +1 more source

Percutaneous Transluminal Renal Artery Stenting in Takayasu Arteritis: A Reversible Cause of Young Hypertension

Indian Journal of Clinical Cardiology
Renal artery involvement is commonly seen in Takayasu arteritis (TA) and patients often present with renovascular hypertension resistant to conventional antihypertensive therapy.
Basant Kumar, Arghadip Bose, Rahul Nema
doaj   +1 more source