Results 251 to 260 of about 797,682 (335)

Phenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams–Beuren Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in patients with Williams–Beuren syndrome (WBS), but their prevalence and possible causes are not yet fully known. This study assessed GI symptoms' prevalence and their possible origin by performing a predefined set of tests in adult WBS patients.
Maria Francesca Bedeschi, Annarita Baldassarri, Roberta Villa, Federico Tanzi, Simona Salera, Vincenza Lombardo, Alessandro Draghi, Nicole Piazza O'Sed, Giovanni Casazza, Maurizio Vecchi, Mirella Fraquelli   +10 more
wiley   +1 more source

Systematic literature review and meta-analysis by Wahida et al. 2023. [PDF]

J Taibah Univ Med Sci
Billany RE.
europepmc   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Measurement of serum adropin levels in chronic renal failure patients receiving routine hemodialysis treatment. [PDF]

Medicine (Baltimore)
Kiliç AF, Erkuş E, Duysak L.
europepmc   +1 more source

International Expert Opinion on Standard of Care for Patients With Schinzel‐Giedion Syndrome: A Modified Delphi Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Schinzel‐Giedion Syndrome (SGS) is an ultra‐rare, multisystem, genetic developmental disorder caused by gain‐of‐function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.
Jessica Duis, Laura Agresta, William E. Bennett Jr, Henry Chambers, Antonia Clarke, Charlie Fairhurst, Julie Hoover‐Fong, Feilim Murphy, Garey Noritz, Scott Schwantes, Michael Shreve, Kabelo Thusang, Darcy Weidemann, Rebecca Beale, Aditi Mehta, Andrew Wilhelmsen, Nuala Summerfield   +16 more
wiley   +1 more source

Treatment Patterns, Adverse Events, and Clinical Outcomes with Steroidal Mineralocorticoid Receptor Antagonists: A Retrospective Analysis of Administrative Claims Data (RELICS). [PDF]

Pragmat Obs Res
Richard EL, Desai NR, Willey VJ, Gay A, Scott C, Folkerts K, Pessina E, Singh R, Teng CC, Oberprieler NG.   +9 more
europepmc   +1 more source

Meeting the Needs of Aboriginal and Torres Strait Islander People With Hearing Loss in the Context of the National Disability Insurance Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT Hearing loss is a poignant issue in many Aboriginal and Torres Strait Islander communities and, without sufficient support, it can also contribute to disabling life experiences. The National Disability Insurance Scheme (NDIS) is intended to provide support to eligible people experiencing disability, however, to effectively serve this ...
Hannah Lack, Jody Barney, Marie Huska, Damien Howard, Alexandra Devine   +4 more
wiley   +1 more source

Kidney Transplantation in Children and Adolescents With C3 Glomerulopathy or Immune Complex Membranoproliferative Glomerulonephritis: An International Survey of Current Practice. [PDF]

Pediatr Transplant
Patry C, Webb NJA, Meier M, Pape L, Fichtner A, Höcker B, Tönshoff B.   +6 more
europepmc   +1 more source

Impact of Acute Kidney Injury, Co-Existing with and without Chronic Kidney Disease on the Short-Term Adverse Outcomes Following Atherosclerotic Cardiovascular Disease Events in Patients with Diabetes. [PDF]

J Multidiscip Healthc
Chou CL, Zheng CM, Chiu HW, Tsou LL, Kao PF, Hsu YH, Lin CL, Sung LC.   +7 more
europepmc   +1 more source

Description of unilateral kidney embolism and contralateral nephrectomy as a less invasive remnant kidney model in cats; a proof‐of‐concept study

Animal Models and Experimental Medicine, EarlyView.
Unilateral, minimally invasive, renal arterial embolization and delayed contralateral nephrectomy was described in cats as a novel remnant kidney model of chronic kidney disease using two doses of embolic particles. Renal function declined and characteristic histopathological markers of kidney disease were present 6 months after the embolism procedure.
Chad W. Schmiedt, Bianca N. Lourenço, Lauren E. Markovic, Meghan Lancaster, Sanjeev Gumber, Juliane Wannemacher, Peter Florian, Amanda E. Coleman   +7 more
wiley   +1 more source