Results 91 to 100 of about 168,164 (259)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

The Voices of Black South African Men on Renal Dialysis at a Tertiary Hospital: A Phenomenological Inquiry. [PDF]

Am J Mens Health, 2021
Mokwena J, Sodi T, Makgahlela M, Nkoana S.   +3 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Porcine kidney xenotransplantation: From primate models to clinical reality

Animal Models and Experimental Medicine, EarlyView.
In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo, Ling Zhang, Shoulong Deng, Chuan Qin   +3 more
wiley   +1 more source

Determinants of protective humoral response to mRNA-1273 and BNT162b2 vaccines in peritoneal dialysis patients: a prospective cohort study

BMC Nephrology
Patients with chronic kidney disease (CKD) on dialysis have a higher mortality rate associated with SARS-CoV-2 infection. Although vaccines are now available, the protective response rates and determinants of humoral response to the vaccine are poorly ...
Yves Dimitrov, Thierry Krummel, François Chantrel, Françoise Heibel, Marc Kribs, Thierry Hannedouche   +5 more
doaj   +1 more source

Using patient feedback to adapt intervention materials based on acceptance and commitment therapy for people receiving renal dialysis. [PDF]

BMC Urol, 2021
Elander J, Kapadi R, Coyne E, Taal MW, Selby NM, Stalker C, Mitchell K.   +6 more
europepmc   +1 more source

Preservation of Peritoneal Dialysis in Liver Surgery with Robotic Technique: A Case Report

Case Reports in Nephrology and Dialysis
Introduction: During the last year, the features of peritoneal dialysis patients have changed, and the cases in which there is a need to perform abdominal surgery are growing.
Paolo Ria, Stefano Garritano, Vilma Martella, Antonio De Pascalis, Anna Zito, Marcello Napoli, Marcello Spampinato, Stefano D'Ugo   +7 more
doaj   +1 more source

Describing nurses' awareness of biological risk in delivering care for renal-dialysis patients: an Italian pilot survey. [PDF]

Acta Biomed, 2021
Magnaghi C, Caruso R, Brioni E, Apuzzo L, Galli M, Massari C, Del Pin M, Magon A, Vezzoli G, Villa G, Manara D.   +10 more
europepmc   +1 more source

Unusual Presentation of Cutaneous B-Cell Lymphoma Atop an Arteriovenous Fistula Made for Renal Dialysis. [PDF]

Dermatol Pract Concept, 2021
Abdelbary A, Shakshouk H.
europepmc   +1 more source

The Prepare for Kidney Care Study: prepare for renal dialysis versus responsive management in advanced chronic kidney disease. [PDF]

Nephrol Dial Transplant, 2021
Murphy E, Burns A, Murtagh FEM, Rooshenas L, Caskey FJ.   +4 more
europepmc   +1 more source