Results 41 to 50 of about 2,344 (196)

Miocardiopatías infiltrativas. Aporte de la ecocardiografía

Revista Colombiana de Cardiología, 2019
Resumen: Las miocardiopatías infiltrativas se caracterizan por un depósito de sustancias anormales dentro de la pared ventricular que generan rigidez y así disfunción diastólica progresiva, que típicamente precede la disfunción sistólica. Estas entidades
Claudia P. Jaimes, Laura Catalina Arcos, Nubia Esperanza Carrero, Julián Gelves, Luis Sánchez   +4 more
doaj   +1 more source

Primary hyperoxaluria: a case series

Journal of Medical Case Reports, 2023
Background Primary hyperoxaluria (PH) is a rare genetic disorder characterized by the excessive production and accumulation of oxalate. We present five cases of PH, each exhibiting varying manifestations of the disorder including a case presenting as ...
Jawad Iqbal Rather, Rabiya Rasheed, Muzafar Maqsood Wani, Mohammad Ashraf Bhat, Imtiyaz Ahmad Wani   +4 more
doaj   +1 more source

Incidence and Risk Factors of Primary Arteriovenous Access Failure in Dialysis Patients: A National‐Based Retrospective Cohort Study

Health Science Reports, Volume 8, Issue 9, September 2025.
ABSTRACT Background and Aim The demand for hemodialysis (HD) among patients with end‐stage kidney disease (ESKD) is rising globally. A well‐functioning vascular access (VA) is crucial for effective dialysis therapy. This study aims to determine the incidence and risk factors of primary arterio‐venous access (AVA) maturation failure in HD patients ...
Tarek A. Ghonimi, Abdullah Hamad, Musaab Elgaali, Mohamed Farid, Mohamed Ezat, Rania A/Aziz, Mohamed Amin, Hassan Al‐Malki, Mohamad Alkadi   +8 more
wiley   +1 more source

Systemic Oxalosis in Infants: Two Cases and Literature Review

, 2013
The infantile form of primary hyperoxaluria is a very rare disease and often presents as a life-threatening condition because of rapid progression to end-stage renal disease and systemic oxalosis.
Hakan Poyrazoglu, Hulya Akgun, Tulpar, Sebahat, Poyrazoglu, Hakan, Dusunsel, Ruhan, Ruhan Dusunsel, Akgun, Hlya, Gunduz, Zubeyde, Sebahat Tulpar, Zubeyde Gunduz, Funda Bastug, Bastug, Funda   +11 more
core   +1 more source

Tocilizumab as Adjuvant Therapy in Refractory Antibody Mediated Rejection in Pediatric Kidney Transplant Recipients

Pediatric Transplantation, Volume 29, Issue 6, September 2025.
ABSTRACT Background Antibody mediated rejection (ABMR) is a major cause of graft loss in kidney transplantation. There are limited treatment options with poor efficacy. Intravenous tocilizumab has been reported to be of benefit in a small number of patients.
Anne M. Durkan, Melanie Aldridge, Stephen I Alexander, Deirdre Hahn   +3 more
wiley   +1 more source

Successful strategies for renal transplantation in primary oxalosis

, 1984
Successful strategies for renal transplantation in primary oxalosis. Eleven patients, aged 6 months to 47 years, with renal failure due to primary oxalosis, received renal allografts and were followed for 1 to 9 years.
Scheinman, Jon I., Michael Mauer, S., Najarian, John S.   +2 more
core   +1 more source

Hiperoxaluria primaria con pancitopenia: a propósito de un caso

Revista Médica Herediana, 2005
Se presenta el caso de un varón, de 15 años de edad, con diagnóstico de litiasis renal desde la infancia que evolucionó a Insuficiencia Renal Crónica, requiriendo hemodiálisis.
Jessica Bravo Zuñiga, Michael Cieza Terrones, Reyner Loza Muñarriz, Juan Carlos Ferrufino Llach, Nancy Mayo Simon   +4 more
doaj  

A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Human alanine:glyoxylate aminotransferase (AGT) is a liver peroxisomal enzyme that metabolizes glyoxylate, the oxalate precursor, to glycine. AGT deficiency, due to recessive pathogenic changes in the AGXT gene, results in calcium oxalate accumulation and kidney stones, a condition known as primary hyperoxaluria type 1 (PH1).
Luana Ruta, Andrea G. Cogal, Gioena Pampalone, David J. Sas, John C. Lieske, Gill Rumsby, Barbara Cellini, Peter C. Harris   +7 more
wiley   +1 more source

A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT The concept of IMDs has evolved over a century from rare deficits in amino acid catabolism diagnosed by the accumulation of biochemical markers such as phenylketonuria (PKU) to diseases affecting organelle metabolism, synthesis of complex molecules, and cellular trafficking.
Jean‐Marie Saudubray, Manuel Schiff
wiley   +1 more source

Oxalosis as a complication of chronic renal failure

, 1973
Oxalosis as a complication of chronic renal failure. The occurrence of renal and myocardial calcium oxalate deposition was studie at autopsy in patients with normal renal function, acute renal failure, chronic renal failure, and chronic renal failure ...
Salyer, William R., Keren, David
core   +1 more source