Results 121 to 130 of about 704,886 (359)

Long‐Term Quality of Life in 1777 Persons With Hodgkin Lymphoma and 6166 Matched Comparators

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Survival has improved substantially for patients with Hodgkin lymphoma (HL), but long‐term quality of life (QoL) remains incompletely understood. This was a Danish, nationwide, cross‐sectional study of QoL among persons with a diagnosis of HL matched 1:10 to general population comparators.
Sissel Johanne Godtfredsen   +13 more
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio   +16 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello   +10 more
wiley   +1 more source

Características clínicas y epidemiológicas de la isquemia cerebral transitoria en pacientes egresados de un hospital provincial universitario Clinical and epidemiological characteristics of the little stroke in patients discharged from a provincial university hospital

open access: yesMedisan, 2011
Se realizó un estudio observacional, descriptivo y transversal de los 139 pacientes egresados del Servicio de Cerebrovascular del Hospital Provincial Clinicoquirúrgico Docente "Saturnino Lora Torres" de Santiago de Cuba con el diagnóstico de ataque ...
María del Carmen Ricardo Cobas   +1 more
doaj  

Tricuspid valve dysplasia in dogs [PDF]

open access: yes, 2018
A general overview of tricuspid valve dysplasia in dogs is presented in this review. This congenital disease has been described in numerous large dog breeds but especially the Labrador retriever is predisposed.
Bavegems, Valérie   +5 more
core   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth   +7 more
wiley   +1 more source

Modeling and Analysis of Hybrid Blood Nanofluid as Drug Carriers through Artery with Rheological Effects

open access: yesMaterials Proceedings
In this current work, we assume the mathematical modelling of non-Newtonian time-dependent hybrid nanoparticles via a cylindrical stenosis artery.
Tahir Zaman   +3 more
doaj   +1 more source

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