Results 51 to 60 of about 31,105 (207)

Clinicopathological findings, correlations and outcomes in patients with renal disease and living with antiretroviral‐treated human immunodeficiency virus infection

Internal Medicine Journal, EarlyView.
Abstract Background and Aims Antiretroviral therapy (ART) has modified the incidence of renal complications and the patterns of renal disease in people living with Human Immunodeficiency Virus (PLWH). We reviewed (2011–2021) the progress and outcomes (follow‐up to mid‐2025) of 158 such individuals.
Jacqueline A. Evans, Christopher S. B. Sia, Gopal Basu, Orla O’Brien, Alan H. Pham, Rowan G. Walker   +5 more
wiley   +1 more source

Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome

BMC Nephrology, 2021
Background Dent disease is an X-linked form of progressive renal disease. This rare disorder was characterized by hypercalciuria, low molecular weight (LMW) proteinuria and proximal tubular dysfunction, caused by pathogenic variants in CLCN5 (Dent ...
Nan Duan, Chenwei Huang, Lu Pang, Shiju Jiang, Wenshuang Yang, Haixia Li   +5 more
doaj   +1 more source

Soft tissue abnormalities in the congenital limb malformation radial dysplasia (RD): Their clinical impact and treatment significance

Journal of Anatomy, EarlyView.
We review the characteristic changes to the limb soft tissue and neurovascular abnormalities that have been described in the congenital limb birth defect, Radial Dysplasia. These include consistent changes in muscle anatomy or absence of specific muscles, persistent median arteries and absent radial arteries and consistent alterations in neural ...
Marco Correia Duarte, Sultan M. Al‐Zyoud, Eleanor M. Feneck, Duane James, Gillian D. Smith, Branavan Sivakumar, Malcolm P. O. Logan   +6 more
wiley   +1 more source

Urine glyceraldehyde excretion is elevated in the renal Fanconi syndrome

, 1989
Urine glyceraldehyde excretion is elevated in the renal Fanconi syndrome. We analyzed urinary constituents using GC/MS in 16 children with the renal Fanconi syndrome and 13 normal individuals.
Conley, Susan B., Jonas, Adam J., Schneider, Jerry A., Williams, Julian C., Lin, Shen-Nan, Caprioli, Richard C.   +5 more
core   +1 more source

Nephrogenic diabetes insipidus with idiopathic Fanconi′s syndrome in a child who presented as vitamin D resistant rickets

Indian Journal of Endocrinology and Metabolism, 2011
Fanconi′s syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders.
Soumya Patra, Gulnaz Nadri, Harish Chowdhary, Harish K Pemde, Varinder Singh, Jagdish Chandra   +5 more
doaj   +1 more source

Early‐Onset Oral Squamous Cell Carcinoma: Emerging Biological Insights, Risk Factors and Clinical Implications

Journal of Oral Pathology &Medicine, EarlyView.
ABSTRACT Background Early‐onset oral squamous cell carcinoma (EO‐OSCC), commonly defined as occurring in individuals under 50 years of age, is increasingly recognized as a potentially distinct clinical subset with differences in exposure patterns and tumor biology compared with conventional oral squamous cell carcinoma (OSCC).
Gennaro Musella, Cristina D'Antonio, Federica Canfora, Michele D. Mignogna, Valentino Vellone, Vito Carlo Alberto Caponio, Amerigo Giudice, Alessandro Villa, Daniela Adamo   +8 more
wiley   +1 more source

Psychogenic polydipsia in dogs – a review of pathogenesis, diagnosis and treatment

Journal of Small Animal Practice, EarlyView.
Polyuria and polydipsia represent a common clinical presentation in dogs and may result from numerous disorders affecting different body systems. Compulsive water consumption is characteristic of psychogenic polydipsia, a primary polydipsia disorder rooted in neurologic, behavioural or environmental factors.
G. Pavlovsky
wiley   +1 more source

Telomere length in inherited bone marrow failure syndromes

Haematologica, 2015
Telomeres are long DNA repeats and a protein complex at chromosome ends that are essential for genome integrity. Telomeres are very short in patients with dyskeratosis congenita due to germline mutations in telomere biology genes.
Blanche P. Alter, Neelam Giri, Sharon A. Savage, Philip S. Rosenberg   +3 more
doaj   +1 more source

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

Drug-induced Fanconi syndrome associated with fumaric acid esters treatment for psoriasis: A case series [PDF]

, 2016
Background: Fumaric acid esters (FAEs), an oral immunomodulating treatment for psoriasis and multiple sclerosis, have been anecdotally associated with proximal renal tubular dysfunction due to a drug-induced Fanconi syndrome.
Balak, D.M.W. (Deepak), De Vries, A.P.J. (Aiko P. J.), Martino Neumann, H.A. (Hendrik A.), Zietse, R. (Bob), Bavinck, J.N.B. (Jan Nico Bouwes), Hartman, J. (Jenny), Thio, H.B. (Bing)   +6 more
core   +1 more source