Results 31 to 40 of about 1,083 (179)

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

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Glomerular filtration rate measured by 51Cr-EDTA clearance: evaluation of captopril-induced changes in hypertensive patients with and without renal artery stenosis

Clinics, 2010
INTRODUCTION: Renal artery stenosis can lead to renovascular hypertension; however, the detection of stenosis alone does not guarantee the presence of renovascular hypertension.
Anna Alice Rolim Chaves, Carlos Alberto Buchpiguel, Jose Nery Praxedes, Luiz Aparecido Bortolotto, Marcelo Tatit Sapienza   +4 more
doaj   +1 more source

Treatment of Atherosclerotic Renal Artery Stenosis [PDF]

Journal of the American Society of Nephrology, 2002
The increasing prevalence of atherosclerotic renal artery stenosis (ARAS) has prompted in recent years a more aggressive treatment of this condition for reducing BP and for preserving the jeopardized renal function. Percutaneous transluminal renal angioplasty (PTRA), alone or in conjunction with stent implantation, may be useful for both these goals ...
A. Morganti, C. Bencini, C. Del Vecchio, M. Strata   +3 more
openaire   +2 more sources

Porcine kidney xenotransplantation: From primate models to clinical reality

Animal Models and Experimental Medicine, EarlyView.
In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo, Ling Zhang, Shoulong Deng, Chuan Qin   +3 more
wiley   +1 more source

When stenting in renal artery stenosis? Update on pathophysiology of ischemic nephropathy and management strategies

Italian Journal of Medicine, 2013
In recent years, decisions taken on the optimal management of patients with renal artery stenosis have triggered off controversy and debate among clinicians dealing with renovascular disease. The main reason underlying this ongoing controversy may be the
Alessandro Zuccalà, Renato Rapanà, Marcora Mandreoli   +2 more
doaj   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

A rare and overlooked mechanical complication of partial nephrectomy: Accelerated hypertension due to renal artery stenosis

Türk Kardiyoloji Derneği Arşivi, 2019
Secondary hypertension accounts for 5% to 10% of all hypertensive cases, and renal artery stenosis is one of the most common causes of secondary hypertension. Although atherosclerotic vascular disease and fibromuscular dysplasia are the leading causes of
Yusuf Ziya Şener, Uğur Canpolat, Mustafa Sertaç Yazıcı, Enver Atalar   +3 more
doaj   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Pre‐Existing and New‐Onset Atrial Fibrillation in Patients Undergoing Transcatheter Aortic Valve Implantation

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Background Atrial fibrillation (AF) is a frequent comorbidity in patients with severe aortic valve stenosis undergoing transcatheter aortic valve implantation (TAVI). In addition, new‐onset AF can occur after TAVI. However, data on how AF affects outcomes in patients undergoing TAVI remain conflicting.
Kimberley I. Hemelrijk, Astrid C. van Nieuwkerk, Philomene J. Vojacek, Livia Gheorge, Didier Tchétché, Fabio S. de Brito Jr., Marco Barbanti, Ran Kornowski, Azeem Latib, Augusto D'Onofrio, Flavio Ribichini, Geoffrey Yanes Bowden, Nicolas Dumonteil, Rogerio Sarmento Leite, Samantha Sartori, Paola D'Errigo, Giuseppe Tarantini, Stefano Andreaggi, Katia Orvin, Matteo Pagnesi, Lluis Asmarats, George Dangas, Roxana Mehran, Ronak Delewi   +23 more
wiley   +1 more source