Results 41 to 50 of about 13,710 (218)

Furosemide stimulation of parathormone in humans: role of the calcium-sensing receptor and the renin-angiotensin system. [PDF]

, 2015
Interactions between sodium and calcium regulating systems are poorly characterized but clinically important. Parathyroid hormone (PTH) levels are increased shortly after furosemide treatment by an unknown mechanism, and this effect is blunted by the ...
Anex, C., Bonny, O., Burnier, M., Forni Ogna, V., Maillard, M., Muller, M.E., Stoudmann, C., Wuerzner, G., Zweiacker, C.   +8 more
core   +1 more source

Periodontitis treatment and microbiome in a patient with FAM20A mutation: Case study of 1.5 years

Clinical Advances in Periodontics, EarlyView.
Abstract Background Enamel‐renal‐gingival syndrome (ERGS) is an autosomal recessive disorder caused by mutations in the FAMily with sequence similarity 20A (FAM20A) gene, and is characterized by amelogenesis imperfecta, delayed or failed tooth eruption, and periodontitis.
John Rong Hao Tay, Preethi Balan, Chaminda Jayampath Seneviratne   +2 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

Treatment of renal stones by extracorporeal shockwave lithotripsy - An update [PDF]

, 2001
Aim: Despite the extensive experience with minimal invasive stone therapy, there are still different views on the ideal management of renal stones. Materials and Methods: Analysis of the literature includes more than 14,000 patients.
Chaussy, Christian, Rassweiler, Jens J., Renner, Christian, Thüroff, Stefan   +3 more
core   +1 more source

More Than a Question of Correlation: Characterization of the Evidentiary Basis for Biomarker Surrogates Used in European Marketing Authorizations

Clinical Pharmacology &Therapeutics, EarlyView.
Traditionally, clinical outcomes measuring how a patient feels, functions, or survives are preferred endpoints in clinical trials; however, some may take a long time to manifest in slowly developing diseases. Biomarkers, if properly validated, can serve as surrogate endpoints, acting as substitutes for clinical outcomes.
Renske Johanna Grupstra, Viktoriia Starokozhko, Elisabeth Bakker, Anna Maria Gerdina Pasmooij, Peter Gerardus Maria Mol   +4 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

A Case of Failure to Thrive- Investigation Beyond a Positive Sweat Test

Çocuk Dergisi, 2021
Failure to thrive represents a difficult entity to define and can be associated with several diseases. Therefore, combining all the data (family history, perinatal and infancy information) with the physical examination and laboratory findings is a ...
Sara Maria Mosca Ferreira Da Silva, Telma Barbosa, Ana Teixeira, Céu R. Mota, Teresa Costa, Liane Correia Costa   +5 more
doaj   +1 more source

Renal function impairment in children with intestinal failure receiving parenteral nutrition: A descriptive cohort study

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Background Children with intestinal failure are at risk for kidney dysfunction; however, the contributing factors are not well established. We aimed to describe risk factors associated with glomerular and tubular renal dysfunction in children with intestinal failure.
Amanda M. Braga da Mata, Heitor Pons Leite, Eduardo F. Hatanaka, Mariana Janiques Barcia Magalhães Fonseca, Marta Liliane de Almeida Maia, Giovana S. G. Sabio, Maria Fernanda C. de Camargo, Paulo C. Koch Nogueira   +7 more
wiley   +1 more source

Expression of osteogenic proteins in kidneys of cats with nephrocalcinosis

Journal of Veterinary Internal Medicine
Background Nephrocalcinosis is a common pathological finding in cats with chronic kidney disease and nephrolithiasis. Understanding its pathogenesis may identify future therapeutic targets.
Nuttha Hengtrakul, Eva Furrow, Michael Borofsky, Ferenc Toth, Jody P. Lulich   +4 more
doaj   +1 more source

Hypercalciuria caused by CYP24A1 mutation: Fourteen years of the patient’s follow-up [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2018
Introduction. Recently, inactivation mutations of CYP24A1, the gene encoding vitamin D 24-hydroxylase, were identified in hypercalciuric nephrolithiasis and nephrocalcinosis.
Peco-Antić Amira, Ivelja Biljana, Miloševski-Lomić Gordana, Paripović Dušan, Konrad Martin   +4 more
doaj   +1 more source