Results 61 to 70 of about 5,906 (249)

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
core   +2 more sources

Molecular pathophysiology of chronic kidney disease–mineral and bone disorder: Focus on the fibroblast growth factor 23–Klotho axis and bone turnover dynamics

Experimental Physiology, EarlyView.
Abstract Chronic kidney disease–mineral and bone disorder (CKD‐MBD) is a major complication of chronic kidney disease (CKD), characterized by disruptions in mineral metabolism, abnormal bone turnover and vascular calcification, which collectively increase the risk of fractures and cardiovascular disease.
Alief Waitupu, Laras Pratiwi, Henry Sutanto, Djoko Santoso, Decsa Medika Hertanto   +4 more
wiley   +1 more source

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
openaire   +2 more sources

Fanconi Syndrome After a Single Exposure to Intravenous Zoledronic Acid

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Bisphosphonates are commonly used to reduce fracture risk in patients with osteoporosis, in those with malignant metastatic bone disease and for treatment of malignant hypercalcaemia. We present the case of a woman in her 80s admitted with recurrent falls who developed Fanconi syndrome after a single dose of intravenous Zoledronic acid despite
Rita Deb, Muhammad Elboghdady, Alvin Shrestha   +2 more
wiley   +1 more source

Clinical practice guidelines for paediatric X‐linked hypophosphataemia in the era of burosumab

Journal of Paediatrics and Child Health, 2022
X‐linked hypophosphataemia (XLH), the most common inherited form of rickets, is caused by a PHEX gene mutation that leads to excessive serum levels of fibroblast growth factor 23 (FGF23).
J. Sandy, P. Simm, A. Biggin, C. Rodda, Christie-Lee Wall, A. Siafarikas, C. Munns   +6 more
semanticscholar   +1 more source

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
core   +1 more source

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
doaj   +1 more source

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations [PDF]

, 2015
Background: Raine syndrome (RS) is a rare autosomal recessive bone dysplasia typified by osteosclerosis and dysmorphic facies due to FAM20C mutations. Initially reported as lethal in infancy, survival is possible into adulthood. We describe the molecular
A Linde, A Rejjal, AE Kan, Alan J Mighell, Ana Carolina Acevedo, AX Acosta, C Chaussain-Miller, C Gaucher, Caroline Lourenço de Lima, Chris F Inglehearn, Claire E L Smith, Clare V Logan, CM Giachelli, Colin A Johnson, D Chitayat, D Nalbant, David A Parry, E Katchburian, FK Ababneh, G Hulskamp, G Jaureguiberry, GS Kochar, HM Kingston, HO Ishikawa, J Dong, J Hao, J Raine, James A Poulter, K Al-Mane, KA Al Mane, L Ye, LI Al-Gazali, Lilian M Paula, Luiz Claudio Castro, LW Fisher, M Dure-Molla de la, M Fradin, M Koob, MA DePristo, MA Simpson, MA Simpson, P Vogel, Paulo Marcio Yamaguti, PJ Patel, Priscila Gomes Alves, PS Hart, S Takeyari, SA Shalev, SH Rafaelsen, SK Wang, SK Wang, SM Hebsgaard, T Gunes, T Mahafza, T Sreenath, V Faundes, VS Tagliabracci, X Wang, X Wang, X Wang, X Wang, Y Kinoshita   +61 more
core   +2 more sources

Mosunetuzumab is effective and well tolerated in older patients with relapsed/refractory follicular lymphoma: Subgroup analysis of a phase I/II study

British Journal of Haematology, Volume 208, Issue 1, Page 149-158, January 2026.
Summary A high unmet need for novel, safe and effective therapies exists among older patients with non‐Hodgkin lymphoma (NHL). We report safety and efficacy of mosunetuzumab in a subgroup analysis of a phase I/II study, which examined the prognostic impact of age in 218 patients with relapsed/refractory (R/R) B‐cell NHL (B‐NHL; ≥65 years, n = 102; <65 ...
Swetha Kambhampati Thiruvengadam, Leslie L. Popplewell, Alex F. Herrera, Matthew Mei, Liana Nikolaenko, Xiaofang Zuo, Shen Yin, Mingzhu Zhou, Yong Mun, Mei Wu, Michael C. Wei, Lihua E. Budde   +11 more
wiley   +1 more source

Successful management of euglycaemic diabetic ketoacidosis in a bexagliflozin‐treated cat

Veterinary Record Case Reports, Volume 13, Issue 4, December 2025.
Abstract A 9‐year‐old, spayed, female, domestic shorthair cat was presented with an acute onset of lethargy, vomiting and anorexia. The cat had a prior diagnosis of diabetes mellitus and was being managed with bexagliflozin, a sodium‐glucose cotransporter‐2 inhibitor.
Ingrid Madeleine Preteseille, Maria D. Vegas Cómitre   +1 more
wiley   +1 more source