Results 101 to 110 of about 472,176 (299)

A Case of Stenotic Change from Gastric Candidiasis Managed with Temporary Stent Insertion

Gut and Liver, 2011
Invasive gastric Candida infection in patient with co-morbidity can cause stenotic change if it is developed at anatomically narrowing portion, such as distal antrum, pylorus, or duodenal bulb.
doaj   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Differentiated approach to the treatment of patients with fractures of lower thoracic and lumbar vertebral bodies and traumatic spinal stenosis

Хирургия позвоночника, 2016
Objective. To analyze clinical effectiveness of repositioning decompression of the dural sac and to justify a differentiated ap- proach to the decompression for traumatic spinal stenosis caused by damages of lower thoracic and lumbar vertebral bodies ...
Asker A. Afaunov, Aleksandr V. Kuzmenko, Igor V. Basankin   +2 more
doaj   +1 more source

Long-term risk of carotid restenosis in patients randomly assigned to endovascular treatment or endarterectomy in the Carotid and Vertebral Artery Transluminal Angioplasty Study (CAVATAS): long-term follow-up of a randomised trial [PDF]

, 2009
Background In the Carotid and Vertebral Artery Transluminal Angioplasty Study (CAVATAS), early recurrent carotid stenosis was more common in patients assigned to endovascular treatment than it was in patients assigned to endarterectomy (CEA), raising ...
Sandercock, Peter, Ederle, Jörg, Gaines, Peter A., Sandercock, P, Ederle, Joerg, Brown, Martin M., Venables, Graham S, McCabe, Dominick J. H., Beard, Jonathan D., Markus, Hugh S, Dobson, Joanna, Featherstone, RL, McCabe, Dominick JH, Bonati, Leo H., Venables, Graham S., Gaines, Peter A, Brown, MM, Markus, HS, Venables, GS, McCabe, Dominick J H, Bonati, LH, CAVATAS Investigators, Dobson, J, Gaines, PA, Bonati, Leo H, McCabe, DJ, Clifton, Andrew, Beard, JD, Beard, Jonathan D, Brown, Martin M, Kalra, Lalit, Clifton, A, ?, ?, Featherstone, Roland L., Sellar, Robin, Ederle, J, Featherstone, Roland L, Markus, Hugh S.   +37 more
core   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Popliteal access for endovascular procedures in femoropopliteal artery occlusive disease

Advances in Interventional Cardiology, 2023
Seyhan Yilmaz, Feryaz Kızıltan, Mehmet Kalender, Hakan Parlar, Hüseyin Şaşkın, Özgür Barış   +5 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Cor Triatriatum in the Adult with Aortic Stenosis and Mitral Stenosis [PDF]

, 2018
Background：Cor triatriatum is a rare congenital cardiac anomaly, in which the left atrium or right atrium is separated by an abnormal fibromuscular membrane with one or more restrictive orifices.
Fukuda, Hirotsugu, Kuwata, Toshiyuki, Ogata, Koji, Hori, Takayuki, Kanno, Yasuyuki, Ogawa, Hironaga, Shibasaki, Ikuko, Takei, Yusuke   +7 more
core  

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

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source