Results 121 to 130 of about 383,475 (246)

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

open access: yesAmerican 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   +6 more
wiley   +1 more source

Janus kinase 2 inhibition by pacritinib as potential therapeutic target for liver fibrosis

open access: yesHepatology, EarlyView., 2022
Diagram of the activation of the profibrotic and procontractile Janus kinase 2 (JAK2)/Ras homolog family member A/Rho‐kinase pathway and the inhibition of phosphorylated JAK2 by pacritinib to inhibit hepatic stellate cell activity. Abstract Background and Aims Janus kinase 2 (JAK2) signaling is increased in human and experimental liver fibrosis with ...
Sandra Torres   +21 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

open access: yesHepatology, EarlyView., 2022
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Abstract Background and Aims Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real‐world data are lacking.
Shannon M. Vandriel   +93 more
wiley   +1 more source

BIOCHEMICAL AND ENDOSCOPIC EVALUATION OF UPPER-GASTROINTESTINAL BLEED IN PATIENTS WITH LIVER CIRRHOSIS

open access: yesPakistan Armed Forces Medical Journal, 2019
Objectives: Evaluating the causes of UGIB, their relation with Child-Turcotte-Pugh (CTP) score and biochemicalmarkers and the predictors of varices. Study Design: Prospective comparative study. Place and Duration of Study: Fauji Foundation Hospital
Zubia Jamil   +3 more
doaj  

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir   +6 more
wiley   +1 more source

Diagnostic and prognostic performance of urinary neutrophil gelatinase‐associated lipocalin in patients with cirrhosis and acute kidney injury

open access: yesHepatology, EarlyView., 2022
Diagnostic and prognostic ability of urinary NGAL in patients with cirrhosis and AKI. Abstract Background and Aims Acute kidney injury (AKI) commonly occurs in patients with decompensated cirrhosis. Urinary neutrophil gelatinase–associated lipocalin (uNGAL) could help discriminate between different etiologies of AKI.
Carmine Gambino   +14 more
wiley   +1 more source

Superselective embolisation in acute lower gastrointestinal haemorrhage: a single institution experience

open access: yes, 2010
Background: Superselective embolisation has been recognised as integral in the management of lower gastrointestinal haemorrhage. It has also reduced the need for emergency surgery.
Mohamad, Zahiah   +3 more
core   +1 more source

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