Results 181 to 190 of about 293,955 (289)

Retinoblastoma Plus Lipomatosis: An Autosomal Dominant Syndrome

Archives of Plastic Surgery, 2014
Stefania Tenna, Mauro Barone, Pierluigi Gigliofiorito, Paolo Persichetti   +3 more
doaj   +1 more source

Progressive endocannabinoid system dysregulation in autosomal dominant polycystic kidney disease. [PDF]

Mol Med
Betkar S, Nemirovski A, Ruppo S, Hinden L, Tam J.   +4 more
europepmc   +1 more source

Evaluation of Soluble Triggering Receptor Expressed on Myeloid Cells 2 (sTREM2) in Cerebrospinal Fluid, Serum, and Plasma Using the Fully Automated Lumipulse Platform

Journal of Clinical Laboratory Analysis, EarlyView.
Relationship between serum and CSF sTREM2 concentration. ABSTRACT Background In this study, we first evaluated the relationship between sTREM2 concentrations in CSF, serum, and plasma of Alzheimer's disease (AD) patients using the newly developed Lumipulse G sTREM2 assay.
Luisa Agnello, Anna Maria Ciaccio, Fabio Del Ben, Caterina Maria Gambino, Tommaso Piccoli, Mauro Midiri, Concetta Scazzone, Anna Masucci, Martina Tamburello, Marcello Ciaccio   +9 more
wiley   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Cystinuria in an Australian Cattle Dog Family-A Seemingly Androgen-Associated Autosomal Dominant Trait. [PDF]

Vet Sci
Kehl A, Brockmann M, Helmes S, Hildebrand A, Döll S, Mueller E, Giger U.   +6 more
europepmc   +1 more source

Cervical Artery Dissection in Autosomal Dominant Polycystic Kidney Disease. [PDF]

Medicina (Kaunas)
Liu A, Xeros H, Wahood W, Keser Z, Khan M.   +4 more
europepmc   +1 more source

The Role of Magnetic Resonance Spectroscopy (MRS), Diffusion‐Tensor‐Imaging (DTI) and Structural MRI in the Alzheimer's Disease and Mild Cognitive Impairment Diagnosis: A Review

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Alzheimer's disease (AD) is one of the most common neurological disorders affecting older adults, with approximately 7.2 million cases only in the United States. This number is projected to increase to 13.8 million in the United States by 2060, leading to increased expenditures for healthcare, long‐term care and hospice services. Consequently,
Valentina Zecca, Gianmauro Palombelli, Nicola Vanacore, Rossella Canese   +3 more
wiley   +1 more source

Web-based LAS-FNAME and blood biomarkers in autosomal dominant Alzheimer's disease. [PDF]

Alzheimers Dement (Amst)
Gonzalez Corona C, Ospina Lopera P, Rowe MC, Vila-Castelar C, Giudicessi A, Malotaux V, He B, Tristão-Pereira C, Martinez JE, Osorio Asprilla L, Ramírez Gallego MS, Alzate Echeverri DP, Serna L, Ashton NJ, Cuello AC, Aguillon D, Quiroz YT.   +16 more
europepmc   +1 more source

Juvenile polyposis in a SMAD4‐mutated child: A call for early surveillance

JPGN Reports, EarlyView.
Abstract We report the case of a 10‐year‐old boy with hereditary hemorrhagic telangiectasia (HHT) and a family history of SMAD4‐related juvenile polyposis syndrome (JPS), presenting with hypoferritinaemia unresponsive to oral supplementation. Endoscopic evaluation revealed multiple gastrointestinal polyps, including duodenal, gastric, and colonic ...
Claudia Lorusso, Giuseppe Lassandro, Stefania Castellaneta, Valentina Palladino, Giovanni la Grasta, Vanessa Nadia Dargenio, Vittorio Labriola, Alberto Gaeta, Paola Giordano, Fernanda Cristofori, Ruggiero Francavilla   +10 more
wiley   +1 more source

Perioperative Outcomes of Nephrectomy for Autosomal Dominant Polycystic Kidney Disease. [PDF]

Urol Pract
Bacchus MW, Wong V, Sood A, Singer EA, Dason S.   +4 more
europepmc   +1 more source