Results 251 to 260 of about 274,252 (355)

Delayed diagnosis of 3β‐HSD7 deficiency in adolescence: Two case reports and review of the literature

JPGN Reports, EarlyView.
ABSTRACT Congenital bile acid synthesis defects (BASD), the most common of which is 3β‐hydroxy‐Δ5‐C27‐steroid dehydrogenase oxidoreductase (3β‐HSD7) deficiency, are a rare cause of fat‐soluble vitamin malabsorption. We describe a 14‐year‐old girl who presented at 14 months with a left distal femur fracture and failure to thrive.
Samantha Pendleton, Mojdeh Mostafavi, Jamie Mathew, Kayla Ganzburg, Barry Hirsch, Nadia Ovchinsky, Wael Sayej   +6 more
wiley   +1 more source

Cranial nerve neuropathies: a rare manifestation of cat scratch disease. [PDF]

BMC Infect Dis
Yakubovsky M, Kosman A, Kadar L, Paran Y, Grisaru-Soen G, Gadoth A, Yahav D, Ben-Ami R, Strahilevitz J, Zimhony O, Ephros M, Giladi M.   +11 more
europepmc   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

Anti-GQ1b Antibody Syndrome: A Clinician-Oriented Perspective on Diagnostics, Therapy, and Atypical Phenotypes-With an Illustrative 16-Case Institutional Series. [PDF]

J Clin Med
Bannai T, Yamada M, Seki T, Shiio Y, Yamasoba T.   +4 more
europepmc   +1 more source

Multiparametric Ultrasound Findings of Testicular Sarcoidosis

Journal of Ultrasound in Medicine, EarlyView.
Objectives To characterize the multiparametric ultrasound (MPUS) features of testicular sarcoidosis, incorporating greyscale, color Doppler ultrasound (CDUS), contrast‐enhanced ultrasound (CEUS), and strain elastography (SE), and to assess their collective diagnostic value.
Huahui Liu, Razan Abudalo, Ghali Salahia, Gibran T. Yusuf, Dean Y. Huang, Paul S. Sidhu   +5 more
wiley   +1 more source

Exploration of a Multimodal Machine Learning Model Integrating Ultrasound and Clinical Indicators for the Diagnosis of Diabetic Peripheral Neuropathy

Journal of Ultrasound in Medicine, EarlyView.
Objectives Based on ultrasound technology and clinical indicators, this study intends to develop multiple risk prediction models for diabetic peripheral neuropathy (DPN), conduct comparative analyses of these models, and further evaluate and validate the diagnostic efficacy of the optimal model for DPN as well as its potential in clinical application ...
Bo‐yu She, Meng‐lu Song, Wen‐bin Chen, Kun‐bin Wu, Zhen‐han Lai   +4 more
wiley   +1 more source

Borrelia and Genital Lichen Sclerosus: A Critical Review of the Evidence

JEADV Clinical Practice, EarlyView.
ABSTRACT Background Lichen sclerosus (LSc) is a chronic inflammatory dermatosis that primarily affects the genitalia. Growing evidence supports chronic occlusive urine exposure as the principal pathogenic driver, though other mechanisms, including mechanical irritation, hormonal influences, autoimmunity, and infection, have been proposed.
Liang Zhi Wong, Richard Watchorn, Sandra Jerkovic Gulin, Christopher B. Bunker, Georgios Kravvas   +4 more
wiley   +1 more source

Migratory and opportunistic wild and domestic birds, as <i>Toxoplasma gondii</i> carriers. [PDF]

Parasite Epidemiol Control
Tsakmakidis I, Moustakidis K, Alvanou MV, Lefkaditis M, Athanasakopoulou Z, Zaralis K, Giantsis IA.   +6 more
europepmc   +1 more source

Serology as an early diagnostic tool in pediatric patients with Shiga toxin-producing <i>Escherichia coli</i>-associated hemolytic uremic syndrome: a <i>post hoc</i> analysis of a phase 2 clinical trial. [PDF]

J Clin Microbiol
Landivar SM, Melli LJ, Pichel M, Rivas M, Colonna M, Massa C, Zylberman V, Sanguineti S, Spatz L, Goldbaum F, Comerci DJ, Ugalde JE, Ciocchini AE, INM004 Study Group.   +13 more
europepmc   +1 more source