Results 51 to 60 of about 173,392,339 (131)

Magnesium and Anti-phosphate Treatment with Bisphosphonates for Generalised Arterial Calcification of Infancy: A Case Report

JCRPE, 2019
Generalized arterial calcification of infancy (GACI) is a rare autosomal-recessive disorder, characterized by calcification of the internal elastic lamina, fibrotic myointimal proliferation of muscular arteries and resultant arterial stenosis.
Fatma Dursun, Tülay Atasoy Öztürk, Serçin Güven, Heves Kırmızıbekmez, Gülcan Seymen Karabulut, Sevinç Kalın, Betül Sözeri   +6 more
doaj   +1 more source

The molecular and physiological roles of ABCC6: more than meets the eye

Frontiers in Genetics, 2012
Abnormal mineralization occurs in the context of several common conditions, including advanced age, diabetes, hypercholesterolemia, chronic renal failure and certain genetic conditions. Metabolic, mechanical, infectious, and inflammatory injuries promote
Olivier eLe Saux, Ludovic eMartin, Zouhair eAherrahrou, Georges eLeftheriotis, Andras eVaradi, Christopher N. Brampton   +5 more
doaj   +1 more source

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases

Orphanet Journal of Rare Diseases, 2022
Background ENPP1 Deficiency—caused by biallelic variants in ENPP1—leads to widespread arterial calcification in early life (Generalized Arterial Calcification of Infancy, GACI) or hypophosphatemic rickets in later life (Autosomal Recessive ...
Lauren M. Chunn, Jeffrey Bissonnette, Stefanie V. Heinrich, Stephanie A. Mercurio, Mark J. Kiel, Frank Rutsch, Carlos R. Ferreira   +6 more
doaj   +1 more source

Improving the Pharmacodynamics and In Vivo Activity of ENPP1‐Fc Through Protein and Glycosylation Engineering

Clinical and Translational Science, 2021
Enzyme replacement with ectonucleotide pyrophosphatase phospodiesterase‐1 (ENPP1) eliminates mortality in a murine model of the lethal calcification disorder generalized arterial calcification of infancy. We used protein engineering, glycan optimization,
Paul R. Stabach, Kristin Zimmerman, Aaron Adame, Dillon Kavanagh, Christopher T. Saeui, Christian Agatemor, Shawn Gray, Wenxiang Cao, Enrique M. De La Cruz, Kevin J. Yarema, Demetrios T. Braddock   +10 more
doaj   +1 more source

Mapping the Landscape of Over‐Scanning in CT Imaging: A Scoping Review

Journal of Medical Radiation Sciences, EarlyView.
Over‐scanning in CT is highly prevalent and contributes to unnecessary radiation exposure, with notable impact on radiosensitive organs. Standardised protocols and AI‐assisted planning show strong potential to optimise scan range and reduce excess dose.
Mo'men Bani‐Ahmad, Aoife O Sullivan, Yasser H. Hadi, Laura McLaughlin, Andrew England, Mark McEntee   +5 more
wiley   +1 more source

Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant, Carlos Robles, Seungwoo Lee, Prakesh S. Shah, Greg Ryan, Elka Miller, Shiri Shinar   +6 more
wiley   +1 more source

Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis. [PDF]

PLoS ONE, 2016
Otitis media (OM), inflammation of the middle ear, is a common cause of hearing loss in children and in patients with many different syndromic diseases.
Cong Tian, Belinda S Harris, Kenneth R Johnson   +2 more
doaj   +1 more source

Ruta graveolens L. in Evidence‐Based Phytotherapy: Pharmacological Activities, Bioactive Compounds and Safety

Phytotherapy Research, EarlyView.
Graphical representation of ethnomedical uses, major bioactive compounds, pharmacological potential and toxicological risks of Ruta graveolens L. ABSTRACT Ruta graveolens L. is widely used in traditional European, Asian, African, and South American medicine for digestive, nervous, cardiovascular, respiratory, and reproductive disorders.
Tetiana Serhiienko, Victoriya Georgiyants, Liudas Ivanauskas, Olha Mykhailenko   +3 more
wiley   +1 more source

Generalized Arterial Calcification of Infancy

Journal of Pediatrics & Neonatal Biology, 2019
A 33 weeks’ gestation female infant was in significant respiratory distress upon delivery and developed severe hypertension. An echocardiogram revealed biventricular hypertrophy and thickening of the aorta and pulmonary artery. Further imaging demonstrated calcifications in the vessels of the neck, abdomen and extremities and a diagnosis of generalized
openaire   +1 more source

Periodontal Medicine Rewired: Mechanisms Linking Periodontitis to Systemic Diseases

Journal of Periodontal Research, EarlyView.
This review reorganizes decades of research in periodontal medicine into a multi‐dimensional framework, illustrating how periodontitis influences systemic health through at least seven interconnected mechanisms. ABSTRACT Periodontitis is now recognized not merely as a localized oral condition but as a systemic disease linked to over 70 communicable and
Mario Romandini, George Hajishengallis, Mike Curtis, Giacomo Baima   +3 more
wiley   +1 more source