Results 251 to 260 of about 520,580 (355)

Sickle Cell Diastolic Cardiomyopathy and Mortality Risk: A Novel Echocardiographic Framework for Prognostic Stratification

American Journal of Hematology, EarlyView.
ABSTRACT Cardiovascular complications are the leading cause of mortality in sickle cell anemia (SCA) patients. While extensive data have identified diastolic dysfunction (DD) to increase morbidity and mortality, the unique hemodynamic conditions inherent to SCA challenge the current recommendations to assess diastolic function. Thus, there is an urgent
Théo Simon, Laurent Savale, Kristoffer Grundtvig Skaarup, Paul Breillat, Luu‐Ly Pham, Seyed‐Mehdi Nouraie, Niklas Dyrby Johansen, Jocelyn Inamo, Francois Lionnet, Gylna Loko, Christelle Chantalat, Anne Laure Pham Hung d’Alexandry d’Orengiani, Anoosha Habibi, Gonzalo de Luna, Sihem Iles, Frédéric Galactéros, Etienne Audureau, Tor Biering‐Sørensen, Pablo Bartolucci, Geneviève Derumeaux, Thomas d’Humières   +20 more
wiley   +1 more source

Myocardial impairment in rheumatoid arthritis patients with normal left ventricular function: findings from speckle tracking echocardiography. [PDF]

Front Med (Lausanne)
Dhahri R, Houaida M, Dergaa I, Ben Ammar L, Ceylan Hİ, Ben Abderrazek Y, Fenniche I, Chenik S, Fehri W, Muntean RI, Gharsallah I.   +10 more
europepmc   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

A DIAPHRAGMATIC GRAFT FOR AUGMENTING LEFT VENTRICULAR FUNCTION

, 1973
Eisuke Kusba, Wolfgang H. Schraut, Satoshi Sawatani, Dov Jaron, Paul S. Freed, Ádrian Kantrowitz   +5 more
openalex   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Assessment of Left Ventricular Function After Percutaneous Coronary Intervention for Chronic Total Occlusion. [PDF]

J Soc Cardiovasc Angiogr Interv
Sammour YM, Bou Chaaya RG, Kharsa C, Philip J, Hatab T, Samimi S, Elias J, Islam M, Sella G, Aoun J, Goel SS, Kleiman NS, Shah AR.   +12 more
europepmc   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

Predicting Cardiovascular Risk Factors for Acute Leukemia Patients by Assessing Subclinical Atherosclerosis and Left Ventricular Function Before Chemotherapy. [PDF]

Life (Basel)
Militaru AG, Lighezan DF, Cimpean AM, Amaricai E, Militaru M.   +4 more
europepmc   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source