Results 81 to 90 of about 332,339 (267)

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

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

Coronary artery pathology and left ventricular ejection fraction changes in patients with primary non-Q wave myocardial infarction

Российский кардиологический журнал, 2008
Coronary angiography was performed in 90 patients with acute non-Q wave myocardial infarction (non-Q MI) - 68 men and 22 women aged 32-78 years (mean age 64,5±2,2 years).
V. V. Krylov, A. A. Filatov, A. Yu. Lebedeva, L. L. Klykov, I. G. Gordeev   +4 more
doaj  

Mortality-Related Factors and 1-Year Survival in Patients After Intracranial Stenting for Intracranial Arterial Critical Stenosis and Occlusion

Medicina
Background: Studies analyzing factors associated with mortality after intracranial stenting are limited. We aimed to investigate potential factors associated with 1-year mortality after urgent or elective intracranial stenting in those patients with ...
Yusuf Inanc, Esra Polat, Mesut Karatas, Cengiz Sabanoglu, Kader Eliz Sahin, Ibrahim Halil Inanc   +5 more
doaj   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Nesfatin-1 as a Potential Biomarker for Ischemic Stroke: A Case-Controlled Study of a Comparative Analysis of Patients with and Without Internal Carotid Artery Stenosis

Diagnostics
Objectives: Recently, the need for early diagnosis of modifiable risk factors involved in the etiology of stroke has been highlighted in the literature.
Şennur Delibaş Kati, Serkan Özben, Ertan Küçüksayan, Mert Van, Esra Yeğin Cilli, Aylin Yaman, Tomris Özben   +6 more
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Sex-Specific Molecular Signatures of Fibrocalcific Aortic Valve Disease

JACC: Basic to Translational Science, 2021
Florian Schlotter, MD, Holger Thiele, MD
doaj   +1 more source

A Case of Interstitial Cystitis With Hunner Lesions Involving Bilateral Ureters

IJU Case Reports
Introduction Interstitial cystitis with Hunner lesion (IC/HL) is an enigmatic, chronic inflammatory disease of the urinary bladder. Few documented cases have reported the IC/HL involving the upper urinary tract.
Satoki Otsuka, Yoshiyuki Akiyama, Daichi Maeda, Aya Niimi, Kenichi Hashimoto, Jun Kamei, Satoru Taguchi, Yuta Yamada, Yusuke Sato, Daisuke Yamada, Tomonori Minagawa, Tetsuo Ushiku, Yukio Homma, Haruki Kume   +13 more
doaj   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source