Diagnostic imaging, including computed tomography, of a two-month-old foal with renal failure indicated that its right kidney was probably absent and that its left kidney was abnormal in shape. The foal was stabilised and released, but three days later its clinical signs recurred. Postmortem examination revealed renal hypoplasia and dysplasia, the first reported case of this condition in an American miniature horse.
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http://dx.doi.org/10.1136/vr.149.7.199 | DOI Listing |
J Med Case Rep
January 2025
Department of Internal Medicine, University of Illinois College of Medicine, Peoria, IL, 61637, USA.
Background: Nephrogenic diabetes insipidus is a rare, often underrecognized complication of long-term lithium therapy. Lithium-induced nephrogenic diabetes insipidus results from chronic renal exposure, leading to significant polyuria, dehydration, and hypernatremia.
Case Presentation: We describe a case of a 55-year-old White caucasian male with a schizoaffective disorder managed with lithium who presented with altered mental status and electrolyte abnormalities following a recent stroke.
BMJ Case Rep
January 2025
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Paired box 2 ()-related disorder, also known as renal coloboma syndrome, is a variably penetrant autosomal dominant condition, associated with renal and ophthalmological abnormalities. We report a child with -related disorder who presented atypically with acute ataxia on a background of stage 3 chronic kidney disease. Extensive biochemical, radiological and gene agnostic rapid trio exome sequencing was non-diagnostic.
View Article and Find Full Text PDFFront Pediatr
January 2025
Henan Provincial Institute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.
Objective: Our study aimed to collect fetuses with recurrent 1q21.1 deletion or duplication syndrome for systematic clinical phenotype analysis to further delineate the intrauterine phenotype features of the two reciprocal syndromes.
Methods: Prenatal samples, including amniotic fluid and chorionic villus samples, were obtained by amniocentesis and chorionic villus sampling at our center, respectively.
BMC Nephrol
January 2025
Department of Clinical Dietetics, Medical University of Warsaw, Erazma Ciolka 27 Street, Warsaw, 01-445, Poland.
Background: Kidney transplantation (kTx) is by far the most effective method of treating end-stage renal disease, with immunosuppressive therapy being obligatory for all, except identical twins. Despite kTx being the most effective treatment for end-stage renal disease, the patients face significant morbidity. They are often burdened with diabetes, anaemia, lipid disorders, all of which pose heightened risks for cardiovascular disease.
View Article and Find Full Text PDFBr J Hosp Med (Lond)
December 2024
Department of Hematology, Hebei General Hospital, Shijiazhuang, Hebei, China.
Peripheral nerve injury affects some people with multiple myeloma; this condition can be brought on by the disease itself or by the treatments they receive. Such a complication increases patients' financial burden, causes treatment to be interrupted or delayed, and reduces treatment efficacy. However, opinions regarding the risk factors for peripheral neuropathy are currently divided.
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