Results 51 to 60 of about 2,344 (196)

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +1 more source

An Interactive Computational Pipeline to Investigate Ventricular Hemodynamics with Real‐Time Three‐Dimensional Echocardiography and Computational Fluid Dynamics

Engineering Reports, Volume 7, Issue 1, January 2025.
In this work, we develop an interactive pipeline for geometry preparation of moving mesh simulations of cardiac hemodynamics. The open source tool is easy to use and can be seamlessly integrated into downstream CFD workflows. ABSTRACT Blood flow within the ventricle can provide important information on the performance of the heart. The determined blood
Jan‐Niklas Thiel, Daniel Verhülsdonk, Ulrich Steinseifer, Katharina Linden, Ulrike Herberg, Ingeborg Friehs, Daniel Diaz‐Gil, Michael Neidlin   +7 more
wiley   +1 more source

Oxalosis and Livedo Reticularis

Actas Dermo-Sifiliográficas (English Edition), 2013
Oxalosis is a disease caused by the deposition of calcium oxalate in extrarenal tissues, most commonly bone, myocardium, retina, blood vessels, and skin, causing the clinical manifestations of the disease. Involvement of the blood vessels of the skin can give rise to livedo reticularis, acrocyanosis, ulcers, and gangrene.
E, Jorquera-Barquero, M C, Súarez-Marrero, F, Fernández Girón, J J, Borrero Martín   +3 more
openaire   +2 more sources

Aspergillus tubingensis: A Rare Fungal Pathogen Complicating COVID‐19 Case

Case Reports in Infectious Diseases, Volume 2025, Issue 1, 2025.
Background Coronavirus disease 2019 (COVID‐19) has been associated with invasive fungal infection. Several COVID‐19 cases were complicated due to coinfection with Aspergillus, Rhizopus, and Mucor species. We present COVID‐19 with Aspergillus tubingensis coinfection.
Aiah M. Khateb, Fadwa S. Alofi, Abdullah Z. Almutairi, Mohammad A. Turkistani, Ziab Z. Alahmadey, Hessa A. Al-Sharif, Esam I. Azhar, Dawei Cui   +7 more
wiley   +1 more source

Oxalobacter formigenes treatment combined with intensive dialysis lowers plasma oxalate and halts disease progression in a patient with severe infantile oxalosis

, 2020
Background!#!Infantile oxalosis, the most devastating form of primary hyperoxaluria type 1 (PH1), often leads to end-stage renal disease (ESRD) during the first weeks to months of life.!##!Case-diagnosis!#!Here, we report the outcome of the therapeutic ...
Krohne, Tim U., Hoppe, Bernd, Pape, Lars, Birtel, Johannes, Ahlenstiel-Grunow, Thurid   +4 more
core   +1 more source

Systemic Oxalosis in Infants: Two Cases and Literature Review

Turkish Journal of Nephrology, 2019
The infantile form of primary hyperoxaluria is a very rare disease and often presents as a lifethreatening condition because of rapid progression to end-stage renal disease and systemic oxalosis.
Zübeyde GÜNDÜZ, Funda BAŞTUĞ, Sebahat TÜLPAR, Hakan POYRAZOĞLU, Hülya AKGÜN, Ruhan DÜŞÜNSEL   +5 more
doaj  

Unique Pathological Findings of Polarized Calcium Oxalate Crystals in Spondylodiscitis of an ESRD Hemodialysis Patient: A Case Report

Clinical Case Reports, Volume 12, Issue 12, December 2024.
ABSTRACT Patients with end‐stage renal disease (ESRD) undergoing chronic hemodialysis are at an increased risk of developing spondylodiscitis, an infectious condition affecting the vertebral column. In this case report, we present a 22‐year‐old male with ESRD, a history of hyperoxaluria, nephrolithiasis, and anemia, who developed spondylodiscitis ...
Parisa Mehrasa, Sepideh Hadimaleki, Nadia Shafiee, Amirreza Khalaji   +3 more
wiley   +1 more source

Nedosiran population pharmacokinetic and pharmacodynamic modelling and simulation to guide clinical development and dose selection in patients with primary hyperoxaluria type 1

British Journal of Clinical Pharmacology, Volume 90, Issue 12, Page 3176-3189, December 2024.
Abstract Aim To characterize pharmacokinetic and pharmacodynamic profiles of nedosiran in patients with primary hyperoxaluria type 1 (PH1), identify influential covariates and confirm therapeutic doses. Methods A population pharmacokinetic (PK)/pharmacodynamic (PD) (POP‐PKPD) model was developed to characterize the concentration‐time course of ...
Steven Zhang, Aniruddha Amrite, Beesan Tan, Kris Jamsen, Sudeep Pradhan, Steve Choy, Horacio Plotkin   +6 more
wiley   +1 more source

Oxalosis with oral manifestations in a patient with chronic renal failure

, 2017
Oxalosis resulting from hyperoxaluria caused by chronic renal failure can be speculated in rare cases among patients with multiple alveolar bone resorption and tooth root resorption events in the oral cavity ...
강상훈, 김문기
core   +1 more source

Accelerated Oxalosis Contributing to Delayed Graft Function after Renal Transplantation

Case Reports in Transplantation, 2019
Hyperoxaluria is an important and underrecognized cause for allograft dysfunction and loss after transplantation. It is potentially treatable if recognized in a timely fashion.
Yvelynne P. Kelly, Astrid Weins, Melissa Y. Yeung   +2 more
doaj   +1 more source