Results 41 to 50 of about 4,220 (205)

Hypophosphataemia in anorexia nervosa [PDF]

Postgraduate Medical Journal, 2001
The prevalence, causes, and consequences of hypophosphataemia in the clinical treatment of various diseases are described in the literature, but are not so seriously regarded as a severe electrolytical disturbance.1-3 The clinical conditions when hypophosphataemia should be suspected are listed in fig 1.
openaire   +2 more sources

The calcilytic agent NPS 2143 rectifies hypocalcemia in a mouse model with an activating calcium-sensing-receptor (CaSR) mutation:relevance to autosomal dominant hypocalcemia type 1 (ADH1) [PDF]

, 2015
Autosomal dominant hypocalcemia type 1 (ADH1) is caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR) and may lead to symptomatic hypocalcemia, inappropriately low serum parathyroid hormone (PTH) concentrations and ...
Allen M. Spiegel, Breitwieser, Dong, Drude, Enikö Kallay, Fadil M. Hannan, Gerard V. Walls, Gowen, Hannan, Hannan, Harding, Hofer, Hough, Hu, Hu, Huang, Jianxin Hu, John, Kinoshita, Kumar, Leach, Leach, Letz, Letz, Lia-Baldini, Loupy, M. Andrew Nesbit, Miedlich, Nemeth, Nemeth, Nesbit, Pearce, Pearce, Petrel, Rajesh V. Thakker, Raue, Roger D. Cox, Stechman, Tertius A. Hough, Thim, Valerie N. Babinsky, Vargas-Poussou, Watanabe, William D. Fraser, Yamamoto   +44 more
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Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations [PDF]

, 2015
open9noDent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes.
Angela D’Angelo, Daniela Cremasco, Dorella Del Prete, Enrica Tosetto, Franca Anglani, Luciana Bonfante, Luisa Maria Bertizzolo, Maria Antonietta Addis, Monica Ceol, null null   +9 more
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Tumour-induced osteomalacia due to phosphaturic mesenchymal tumour of the ethmoid

Journal of Clinical and Scientific Research, 2017
Tumour-induced hypophosphatemic osteomalacia is often due to mesenchymal tumours. Surgical resection of tumour gives complete relief. We present the case of a 66-year-old male who sustained fracture of the hip after a trivial fall.
Honey Ashok, Gayatri Polamarsetty, Neha Gupta, Anisha Tandon, Nandita Ghosal, Shabnam Roohi, G R Prashant, C V Harinarayan   +7 more
doaj   +1 more source

Influencia del aporte proteico parenteral en las alteraciones electrolíticas en recién nacidos prematuros

Anales de Pediatría, 2021
Resumen: Introducción: La nutrición parenteral agresiva con aportes energéticos y proteicos altos se utiliza para mejorar el crecimiento y el neurodesarrollo en recién nacidos prematuros de muy bajo peso. No obstante, hallazgos recientes sugieren que su
Carlos Javier Parramón-Teixidó, Laura Gómez-Ganda, Beatriz García-Palop, Marcos Linés-Palazón, Albert Blanco-Grau, José Bruno Montoro-Ronsano, Susana Clemente-Bautista   +6 more
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The effect of Tenofovir on renal function among Ugandan adults on long-term antiretroviral therapy: a cross-sectional enrolment analysis. [PDF]

, 2016
BACKGROUND: WHO recommends using Tenofovir containing first line antiretroviral therapy (ART), however, Tenofovir has been reported to be associated with renal impairment and dysfunction.
CoLTART study team, Kaleebu, Pontiano, Kasamba, Ivan, Kazooba, Patrick, Mayanja, Billy Nsubuga, Munderi, Paula, Salome, Tino, Were, Jackson   +7 more
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Severe hypophosphataemia in anorexia nervosa [PDF]

Postgraduate Medical Journal, 1994
Summary In addition to well-described acid-base and electrolyte disturbances, anorexia nervosa may be complicated by severe hypophosphataemia. We report a case of anorexia nervosa complicated by life-threatening hypophosphataemia manifesting as generalized muscle weakness and bulbar muscle dysfunction, resulting in an aspiration ...
A K, Cariem, E R, Lemmer, M G, Adams, T A, Winter, S J, O'Keefe   +4 more
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Drug-induced metabolic acidosis [PDF]

, 2017
Summary: Drug causes of metabolic acidosis are numerous and their mechanisms are diverse. Broadly, they can cause metabolic acidosis with either a normal anion gap (e.g. drug-induced renal tubular acidosis) or an elevated anion gap (e.g.
Boton, Burdett, Burges, Dragovic, Fenves, Figge, Gerbaud, Hunter, Hussain, Kam, Karet, Knights, Kraut, Lee, Mirza, Oh, O’Connell, Peters, Porras, Reddi, Reyes, Robergs, Roscoe, Salpeter, Sawaya, Skinner, Soriano, Stewart, Tsao, Viollet, Walsh, Yombi, Yunos, Zamlauski-Tucker   +33 more
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Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia

Frontiers in Genetics, 2022
X-linked hypophosphataemia (XLH) is an X-linked dominant rare disease that refers to the most common hereditary hypophosphatemia (HH) caused by mutations in the phosphate-regulating endopeptidase homolog X-linked gene (PHEX; OMIM: * 300550).
Yanting Yang, Yanting Yang, Yanting Yang, Yuanda Wang, Ying Shen, Mohan Liu, Siyu Dai, Siyu Dai, Siyu Dai, Xiaodong Wang, Xiaodong Wang, Hongqian Liu, Hongqian Liu, Hongqian Liu   +13 more
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Genetic background influences tumour development in heterozygous Men1 knockout mice [PDF]

, 2020
Multiple endocrine neoplasia type 1 (MEN1), an autosomal dominant disorder caused by MEN1 germline mutations, is characterised by parathyroid, pancreatic and pituitary tumours. MEN1 mutations also cause familial isolated primary hyperparathyroidism (FIHP)
Christie, Paul T., Javid, Mahsa, Kooblall, Kreepa G., Lines, Kate E., Mallon, Ann-Marie, Newey, Paul J., Piret, Sian E., Reed, Anita Ac, Simon, Michelle, Stevenson, Mark, Thakker, Rajesh V., Walls, Gerard V.   +11 more
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