Results 31 to 40 of about 11,057 (205)

Sotos Syndrome and Nephrocalcinosis a Rare But Possible Association Due to Impact on Contiguous Genes [PDF]

One-month old, breastfeeding infant, born at term, with normal anthropometric measurements at birth was referred to Pediatric Nephrology due to a nephrocalcinosis. The patient presented with dysmorphic features and heart disease.
Juan A. Bafalliu-Vidal, Salvador Ibáñez-Micó, Ascensión Vera-Carbonell, Ana Lorente-Nicolás, Francisca Bermejo-Costa, José María Donate-Legaz, Juan D. González-Rodríguez, Esther Q. Inglés-Torres, José E. Cabrera-Sevilla, Pedro Cortés-Mora   +9 more
core   +1 more source

Histopathologic Characterization of Cutaneous Oxalosis Mimicking Calciphylaxis: Diagnostic Pitfalls and Polarized Light Evaluation

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Cutaneous oxalosis is an uncommon manifestation of primary hyperoxalosis, which can often resemble other cutaneous manifestations of end stage renal disease (ESRD), particularly calciphylaxis. We report the case of a 46 year old female with primary hyperoxaluria type one (PH1) believed to be well‐controlled on lumasiran, a small interfering ...
Shrina Patel, Brad Graham, Kaci Reaves, Mya Phelps   +3 more
wiley   +1 more source

Hypophosphataemia in adults: approach to diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Hypophosphataemia is a common electrolyte disorder which can have clinically significant consequences for bone, muscle, neurological and haematological function. Its causes range from transient transcellular shifts in hospitalised patients to chronic renal phosphate‐wasting disorders mediated by fibroblast growth factor 23 (FGF23).
Kajanan Parameshwaran, Mawson Wang, Kirtan Ganda   +2 more
wiley   +1 more source

Genetic evaluation of paediatric nephrocalcinosis: phenotype-driven genetic panels reveal a rare diagnosis [PDF]

, 2022
Monogenic causes of paediatric nephrocalcinosis are associated with extensive phenotypic variability. We report a 14-year-old male who presented at eight years of age with incidentally identified nephrocalcinosis alongside growth impairment and dental ...
Patterson, Jenny, Jacob, Zoe, Reynolds, Ben C.   +2 more
core   +1 more source

Acute freshwater CO2 exposure does not impair seawater transfer in three different sizes of Atlantic salmon (Salmo salar) subjected to different photoperiod manipulations

Journal of Fish Biology, EarlyView.
Abstract There is a growing interest in Atlantic salmon (Salmo salar) aquaculture to extend the time fish are reared in freshwater (FW) recirculating aquaculture systems (RAS), producing larger FW salmon that can then be induced to undergo smoltification before transfer into marine net pens for grow‐out and harvest.
Le Thi Hong Gam, Daniel W. Montgomery, Daniel S. Laronde, Rachael Mackinnon, Jeffrey G. Richards, Colin J. Brauner   +5 more
wiley   +1 more source

Five years results after intrafamilial kidney post-transplant in a case of familial hypomagnesemia due to a claudin-19 mutation

Brazilian Journal of Nephrology, 2014
Introduction: Familial Hypomagnesaemia with hypercalciuria and nephrocalcinosis, with severe ocular impairment secondary to claudin-19 mutation, is a rare recessive autossomic disorder. Its spectrum includes renal Mg2+ wasting, medullary nephrocalcinosis
Jorge Reis Almeida, Gabriel de Almeida Machado, Márcia Maria Guimarães dos Santos, Patricia de Fátima Lopes, Jorge Paulo Strogoff de Matos, Aderbal Cypriano Neves, Jocemir Ronaldo Lugon   +6 more
doaj   +1 more source

Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis

Kidney & Blood Pressure Research, 2021
Background: Distal renal tubular acidosis (dRTA) is characterized by an impairment of urinary acidification resulting in metabolic acidosis, hypokalemia, and inappropriately elevated urine pH.
Viola D’Ambrosio, Alessia Azzarà, Eugenio Sangiorgi, Fiorella Gurrieri, Bernhard Hess, Giovanni Gambaro, Pietro Manuel Ferraro   +6 more
doaj   +1 more source

Francisella orientalis in Aquacultured Tilapia (Oreochromis spp.): A Case Work‐Up of Diagnostics and Pathologic Findings in the North Central Region (USA)

Journal of Fish Diseases, EarlyView.
ABSTRACT Tilapia (Oreochromis spp.) is an increasingly popular aquacultured fish worldwide. While tilapia enjoy a ‘hardy‐fish’ reputation among fish farmers, they are susceptible to a variety of infectious diseases that can be difficult to recognize pondside and have similarities in their gross presentations. This report describes gross and microscopic
S. E. Edmonds, N. O. Hickey, C. Q. Reis, I. Kamonchai, M. J. Kebus, A. P. Pessier, T. B. Waltzek, K. R. Snekvik   +7 more
wiley   +1 more source

A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings

The Turkish Journal of Pediatrics, 2018
Familial hypomagnesemic hypercalciuric nephrocalcinosis (FHHNC) (OMIM: 248250) is characterized by hypomagnesemia, hypercalciuria and nephrocalcinosis. FHHNC inevitably progresses to end-stage renal disease in decades.
Caner Alparslan, Elif Perihan Öncel, Sinem Akbay, Demet Alaygut, Fatma Mutlubaş, Mansur Tatlı, Martin Konrad, Önder Yavaşcan, Belde Kasap-Demir   +8 more
doaj   +1 more source

Effect of Two Therapeutic Renal Diets on Hormonal and Regulatory Pathways Affecting Calcium Homeostasis in Cats With Early‐Stage Chronic Kidney Disease

Journal of Animal Physiology and Animal Nutrition, EarlyView.
ABSTRACT Chronic kidney disease (CKD) is a known risk factor for hypercalcemia in cats. Phosphate‐restricted diets have also been implicated in causing hypercalcemia, in part because phosphate restriction increases the Ca:P ratio. The primary objective of this study was to evaluate the impact of two different therapeutic renal foods on ionized (iCa ...
Jean A. Hall, Elizabeth M. Morris, Dale A. Fritsch, John J. Brejda, Kim M. Wilson   +4 more
wiley   +1 more source