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    1 OF 112

    Developments in rare bone diseases and mineral disorders.
    Ther Adv Chronic Dis 2018 Jan 24;9(1):51-60. Epub 2017 Nov 24.
    University College Dublin, Belfield, Dublin, 4, Ireland.
    In the last decade, there have been a number of significant advances made in the field of rare bone diseases. In this review, we discuss the expansion of the classification system for osteogenesis imperfecta (OI) and the resultant increase in therapeutic options available for management of OI. Bisphosphonates remain the most widely used intervention for OI, although the effect on fracture rate reduction is equivocal. Read More

    EPIC Trial: education programme impact on serum phosphorous control in CKD 5D patients on hemodialysis.
    J Bras Nefrol 2017 Oct-Dec;39(4):398-405
    Universidade de São Paulo, Instituto de Ciências Biomédicas, Departamento de Farmacologia, São Paulo - SP, Brazil.
    Introduction: In stage 5D chronic kidney disease (CKD 5D) patients, the encouragement of treatment adherence by health professionals is a significant clinical challenge.

    Objectives: This study evaluates the impact of a nutritional education programme on hyperphosphatemia, utilizing the transtheoretical model of behavior change (TMBC).

    Subjects And Methods: A prospective interventional study comprising 179 CKD 5D patients with hypophosphatemia. Read More

    Hyperphosphatemia is associated with high mortality in severe burns.
    PLoS One 2018 9;13(1):e0190978. Epub 2018 Jan 9.
    Kidney Research Center, Department of Nephrology, Change Gung Memorial Hospital, Linkou branch, Taoyuan, Taiwan.
    Introduction: Phosphate level is often deranged during acute illness, regardless of the presence of kidney injury or not. A few studies described that hypophosphatemia may associated with outcome in patients admitted to the burn unit, but the literatures for hyperphosphatemia is limited. Our study aims to evaluate if hyperphosphatemia, one of the sign of severe tissue damage or kidney injury, will associate with mortality of patients with severe burns. Read More

    Hypophosphatemia, severe bone pain, gait disturbance and fatigue fractures after iron substitution in inflammatory bowel disease: a case report.
    J Bone Miner Res 2018 Jan 3. Epub 2018 Jan 3.
    Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Med. Dept. Hanusch Hospital, Vienna, Austria.
    We thank the editors for giving us the opportunity to respond to the commentary letters by Drs. Urbina and Tournis and their colleagues. They describe patients with gastrointestinal diseases who developed hypophosphatemia after infusions of ferric carboxymaltose. Read More

    Efficacy and safety of regorafenib for advanced gastrointestinal stromal tumor after failure with imatinib and sunitinib treatment: A meta-analysis.
    Medicine (Baltimore) 2017 Dec;96(48):e8698
    Department of Colorectal Surgery, The First Affiliated Hospital of Harbin Medical University.
    Aims: This meta-analysis aimed to evaluate the safety and efficacy of regorafenib as a treatment for patients with advanced (metastatic and/or unresectable) gastrointestinal stromal tumor (AGIST) after developing resistance to imatinib and sunitinib.

    Methods: A literature search of databases such as PubMed, Embase, and Cochrane library was conducted up to February 2017. The pooled percentages and the corresponding 95% confidence intervals (CIs) were calculated using the Stata 11. Read More

    [Hypophosphatemia is associated with poor prognosis of critically ill patients: a meta-analysis of 1 555 patients].
    Zhonghua Wei Zhong Bing Ji Jiu Yi Xue 2018 Jan;30(1):34-40
    Department of Intensive Care Unit, Affiliated Hospital of Guizhou Medical University, Guiyang 550004, Guizhou, China (Liu B, Cheng YM, Shen F, Wang YH, Wu YQ); Department of Intensive Care Unit, Second Affiliated Hospital of Guizhou Medical University, Kaili 556000, Guizhou, China (Yao L); Department of Intensive Care Unit, Fourth People's Hospital of Zhenjiang City, Zhenjiang 212000, Jiangsu, China (Liu YQ); Department of Oncology, Mineral Hospital of Liupanshui City, Liupanshui 553000, Guizhou, China (Gou XB). Corresponding author: Shen Feng, Email:
    Objective: To evaluate the relationship between hypophosphatemia and prognosis in critically ill patients.

    Methods: Some hypophosphatemia-associated prospective or retrospective clinical cohort studies were searched through CNKI, Wanfang Data, PubMed, Embase, Cochrane library, and Google Scholar English database respectively, with the guidance of these key words such as hypophosphatemia, intensive care, prognosis and fatality rate. The articles were concerned about the correlation between hypophosphatemia and the prognosis of patients in intensive care unit (ICU). Read More

    Severe FGF23-based hypophosphataemic osteomalacia due to ferric carboxymaltose administration.
    BMJ Case Rep 2018 Jan 3;2018. Epub 2018 Jan 3.
    Department of Medicine/Endocrinology, University of North Carolina, Chapel Hill, North Carolina, USA.
    Ferric carboxymaltose (FCM) is a novel iron formulation increasingly prescribed due to its effectiveness and fast infusion time. FCM administration can cause an asymptomatic hypophosphataemia secondary to fibroblast growth factor 23 (FGF23) dysregulation. In patients with chronic iron needs, however, a severe, long-lasting hypophosphataemia can lead to osteomalacia with associated bone pain. Read More

    Letter to the editor. Hypophosphatemia, severe bone pain, gait disturbance and fatigue fractures after iron substitution in inflammatory bowel disease: a case report†.
    J Bone Miner Res 2017 Dec 27. Epub 2017 Dec 27.
    Department of Clinical Therapeutics, National and Kapodistrian University of Athens, School of Medicine, "Alexandra" General Hospital, Athens, Greece.
    We read with great interest the case report by Bartko J, et al1 concerning a patient with osteomalacia due to long-standing hypophosphatemia following long-term intravenous (iv) iron administration. We would like to add our experience regarding a similar case of a male patient with Hirschsprung disease suffering from severe hypophosphatemia due to continuous iv iron administration. Read More

    Iron supplementation induced phosphaturic osteomalacia: FGF23 is the culprit Comment on the paper by Bartko J. et al.
    J Bone Miner Res 2017 Dec 27. Epub 2017 Dec 27.
    Assistance Publique-Hopitaux de Paris, Hôpitaux Universitaires Paris-Sud, Department of Rheumatology, Le Kremlin Bicêtre, France, Université Paris-Sud, INSERM U1184, Le Kremlin Bicêtre, France.
    Sir, we read with interest the recently published article of Bartko J. et al 1 . In this paper the authors report a case of hypophosphatemia and fatigue fractures occurring after iron substitution in a patient with inflammatory bowel disease. Read More

    Severe asymptomatic hypophosphataemia in a child with T-acute lymphoblastic leukaemia.
    Malays J Pathol 2017 Dec;39(3):317-320
    University Malaya, Faculty of Medicine, Department of Pathology, Kuala Lumpur, Malaysia.
    Hypophosphataemia is a metabolic disorder that is commonly encountered in critically ill patients. Phosphate has many roles in physiological functions, thus the depletion of serum phosphate could lead to impairment in multiple organ systems, which include the respiratory, cardiovascular, neurological and muscular systems and haematological and metabolic functions. Hypophosphataemia is defined as plasma phosphate level below 0. Read More

    Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.
    Pediatr Nephrol 2017 Dec 23. Epub 2017 Dec 23.
    Institute of Physiology, University of Zurich, Winterthurerstrasse 190, 8057, Zurich, Switzerland.
    Renal phosphate handling critically determines plasma phosphate and whole body phosphate levels. Filtered phosphate is mostly reabsorbed by Na+-dependent phosphate transporters located in the brush border membrane of the proximal tubule: NaPi-IIa (SLC34A1), NaPi-IIc (SLC34A3), and Pit-2 (SLC20A2). Here we review new evidence for the role and relevance of these transporters in inherited disorders of renal phosphate handling. Read More

    Peptide Receptor Radionuclide and Octreotide: A Novel Approach for Metastatic Tumor-Induced Osteomalacia.
    J Endocr Soc 2017 Jun 3;1(6):726-730. Epub 2017 May 3.
    Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, 110029, India.
    Key Messages: Octreotide can be used as an adjunctive therapy to increase phosphorus levels in patients with tumor-induced osteomalacia. Malignant phosphaturic mesenchymal tumor (PMT) may benefit from treatment with peptide receptor radionucleotide therapy.

    Context: The success of treatment modalities for malignant PMT is limited. Read More

    Is refeeding syndrome relevant for critically ill patients?
    Curr Opin Clin Nutr Metab Care 2017 Dec 14. Epub 2017 Dec 14.
    Department of Intensive Care, Gelderse Vallei Hospital, Ede, The Netherlands.
    Purpose Of Review: To summarize recent relevant studies regarding refeeding syndrome (RFS) in critically ill patients and provide recommendations for clinical practice.

    Recent Findings: Recent knowledge regarding epidemiology of refeeding syndrome among critically ill patients, how to identify ICU patients at risk, and strategies to reduce the potential negative impact on outcome are discussed.

    Summary: RFS is a potentially fatal acute metabolic derangement that ultimately can result in marked morbidity and even mortality. Read More

    Avelumab in metastatic urothelial carcinoma after platinum failure (JAVELIN Solid Tumor): pooled results from two expansion cohorts of an open-label, phase 1 trial.
    Lancet Oncol 2018 Jan 5;19(1):51-64. Epub 2017 Dec 5.
    Genitourinary Malignancies Branch, Center for Cancer Research, National Cancer Institute, Magnuson Clinical Center, Bethesda, MD, USA. Electronic address:
    Background: The approval of anti-programmed death ligand 1 (PD-L1) and anti-programmed death 1 agents has expanded treatment options for patients with locally advanced or metastatic urothelial carcinoma. Avelumab, a human monoclonal anti-PD-L1 antibody, has shown promising antitumour activity and safety in this disease. We aimed to assess the safety profile in patients (both post-platinum therapy and cisplatin-naive) treated with avelumab and to assess antitumour activity of this drug in post-platinum patients. Read More

    Efficacy, safety and patient-reported outcomes of ledipasvir/sofosbuvir in NS3/4A protease inhibitor-experienced individuals with hepatitis C virus genotype 1 and HIV coinfection with and without cirrhosis (ANRS HC31 SOFTRIH study).
    HIV Med 2017 Dec 7. Epub 2017 Dec 7.
    Hepatogastroenterology Department, APHP, Hôpital Saint Louis, Paris, France.
    Objectives: Studies evaluating the efficacy and safety of the fixed-dose combination ledipasvir (LDV)/sofosbuvir (SOF) in patients coinfected with HIV-1 and hepatitis C virus (HCV) have mainly included treatment-naïve patients without cirrhosis. We aimed to evaluate the efficacy and safety of this combination in treatment-experienced patients with and without cirrhosis.

    Methods: We conducted a multicentre, open-label, double-arm, nonrandomized study in patients coinfected with HIV-1 and HCV genotype 1 with and without cirrhosis, who had good viral suppression on their antiretroviral regimens. Read More

    Targeting epigenetics for treatment of BRAF mutated metastatic melanoma with decitabine in combination with vemurafenib: A phase lb study.
    Oncotarget 2017 Oct 26;8(51):89182-89193. Epub 2017 Sep 26.
    Department of Hematology, Oncology and Blood and Marrow Transplantation and the Holden Comprehensive Cancer Center, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA.
    Introduction: Epigenetic modifications play an important role in progression and development of resistance in V600EBRAF positive metastatic melanoma. Therefore, we hypothesized that the action of vemurafenib (BRAF inhibitor) can be made more effective by combining with low dose decitabine (a DNA methyltransferase inhibitor). The primary objective of this phase lb study was to determine the dose limiting toxicity and maximum tolerated dose of combination of subcutaneous decitabine with oral vemurafenib in patients with V600EBRAF positive metastatic melanoma with or without any prior treatment. Read More

    Concomitant AIDS cholangiopathy and Fanconi syndrome as complications of HIV in a single patient.
    BMJ Case Rep 2017 Nov 21;2017. Epub 2017 Nov 21.
    Acute Medical Unit, Croydon University Hospital, London, UK.
    We describe the case of a 50-year-old woman presenting to our acute medicine department with generalised non-specific symptoms on a background of HIV managed on triple therapy (tenofovir, lamivudine and zidovudine). On admission, she was noted to be acidotic with proteinuria, glycosuria, hypophosphataemia and generalised body pain, and was diagnosed with Fanconi's renotubular syndrome secondary to tenofovir. It was also noted that she had elevated liver dysfunction markers, and an MRI of the liver revealed a focal stricture near the ampulla of Vater, resulting in a diagnosis of AIDS cholangiopathy. Read More

    A controlled study of the effects of ferric carboxymaltose on bone and haematinic biomarkers in chronic kidney disease and pregnancy.
    Nephrol Dial Transplant 2017 Nov 17. Epub 2017 Nov 17.
    Department of Renal Medicine, Eastern Health, Melbourne, VIC, Australia.
    Background: Intravenous (IV) iron can modulate fibroblast growth factor 23 (FGF23) concentrations and cause transient but significant hypophosphataemia. However, it is unknown what other markers might be involved, especially in different patient groups. This study aimed to determine changes in bone and haematinic biomarkers following IV ferric carboxymaltose (FCM) and to identify risk factors for hypophosphataemia in pregnant subjects and those with chronic kidney disease (CKD). Read More

    Association between Extreme Values of Markers of Chronic Kidney Disease: Mineral and Bone Disorder and 5-Year Mortality among Prevalent Hemodialysis Patients.
    Blood Purif 2017 Nov 22;45(1-3):1-7. Epub 2017 Nov 22.
    Department of Nephrology, Tianjin Union Medicine Center, Tianjin, PR China.
    Background/aims: We examined the association between markers of chronic kidney disease - mineral and bone disorder (CKD-MBD) and mortality in hemodialysis (HD) patients.

    Methods: We retrospectively reviewed the association between markers of CKD-MBD and mortality in 1,126 HD patients from 2009 to 2013 with baseline (B), time-average (TA), and time-dependent (TD) Cox regression models.

    Results: Hypercalcemia (10. Read More

    Early recovery pathway for hepatectomy: data-driven liver resection care and recovery.
    Hepatobiliary Surg Nutr 2017 Oct;6(5):297-311
    Division of Surgical Oncology, Department of Surgery, City of Hope National Medical Center, Duarte, CA, USA.
    In recent years, great progress has been made toward safer hepatobiliary surgical interventions. This has resulted in more widely available treatments for patients who in the past were ineligible for curative resection of primary liver tumors, liver metastases, and advanced biliary tumors. However, the rise in procedures has seen increasingly heterogeneous perioperative management, yielding strikingly disparate outcomes. Read More

    Osteoglophonic Dysplasia: Phenotypic and Radiological Clues.
    J Pediatr Genet 2017 Dec 5;6(4):247-251. Epub 2017 May 5.
    Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India.
    Osteoglophonic dysplasia (OD) is an extremely rare, skeletal dysplasia with an autosomal dominant mode of inheritance. Rhizomelic dwarfism, craniosynostosis, impacted teeth, hypodontia or anodontia, and multiple nonossifying bone lesions are the salient features of this condition. We report a 14-year-old girl with clinical and radiological features consistent with OD. Read More

    Impact of Conventional Medical Therapy on Bone Mineral Density and Bone Turnover in Adult Patients with X-Linked Hypophosphatemia: A 6-Year Prospective Cohort Study.
    Calcif Tissue Int 2017 Nov 15. Epub 2017 Nov 15.
    Department of Pediatrics, Kolding Hospital at Lillebaelt Hospital, Sygehusvej 24, DK-6000, Kolding, Denmark.
    X-linked hypophosphatemia (XLH) is a rare, inheritable disorder manifesting as rickets in children and osteomalacia in adults. While conventional medical treatment with oral phosphate and alfacalcidol is recommended in childhood, it is undecided whether adults should continue therapy. The aim of this 6-year prospective study was to determine the impact of conventional medical treatment on areal bone mineral density (aBMD), bone turnover markers (BTMs) and measures of calcium homeostasis in 27 adult patients with XLH, 11 of whom received medical treatment. Read More

    [Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review].
    Zhonghua Er Ke Za Zhi 2017 Nov;55(11):858-861
    Department of Endocrinology, Capital Institute of Pediatrics, Beijing 100020, China.
    Objective: To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" . The literature retrieval was confined from 1980 to February 2017. Read More

    Evidence for a role of PDZ domain-containing proteins to mediate hypophosphatemia in calcium stone formers.
    Nephrol Dial Transplant 2017 Nov 6. Epub 2017 Nov 6.
    Department of Medicine, University of Chicago, Chicago, IL, USA.
    Background: Hypophosphatemia (HYP) is common among calcium stone formers (SFs) and in rare cases is associated with mutations in sodium-phosphate cotransporters or in Na+/H+ exchanger regulatory factor 1 (NHERF1), but the majority of cases are unexplained. We hypothesized that reduced sodium-phosphate cotransporter activity mediated via NHERF1 or a similar PDZ domain-containing protein, causes HYP. If so, other transport activities controlled by NHERF1, such as NHE3 and URAT1, might be reduced in HYP. Read More

    Sporadic primary hyperparathyroidism and stone disease: a comprehensive metabolic evaluation before and after parathyroidectomy.
    BJU Int 2017 Nov 10. Epub 2017 Nov 10.
    Section of Endourology, Division of Urology, Hospital das Clínicas, University of Sao Paulo Medical School, Sao Paulo, Brazil.
    Objectives: To characterize the stone risk and the impact of parathyroidectomy on the metabolic profile of patients with primary hyperparathyroidism (PHPT) and urolithiasis.

    Patients And Methods: We analysed the prospectively collected charts of patients treated at our stone clinic between January 2001 and January 2016 searching for patients with PHPT and urolithiasis. Imaging evaluation of the kidneys, bones and parathyroid glands was assessed. Read More

    Atypical manifestation of parathyroid carcinoma with late-onset distant metastases.
    Endocrinol Diabetes Metab Case Rep 2017 28;2017. Epub 2017 Oct 28.
    Department of Pathophysiology, National and Kapodistrian University of Athens, Athens, Greece.
    Parathyroid carcinoma is an extremely rare endocrine malignancy that accounts for less than 1% of cases of primary hyperparathyroidism. We report a 44-year-old woman who presented with fatigue and diffuse bone pain. Laboratory findings revealed highly elevated serum calcium and parathyroid hormone (PTH) levels and a 4. Read More

    Treatment Outcome of Combined Continuous Venovenous Hemofiltration and Hemoperfusion in Acute Paraquat Poisoning: A Prospective Controlled Trial.
    Crit Care Med 2018 Jan;46(1):100-107
    Center for Nephrology and Clinical Metabolomics and Division of Nephrology and Rheumatology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, PR China.
    Objectives: To investigate whether combined continuous venovenous hemofiltration and hemoperfusion among paraquat-poisoned patients would improve survival.

    Design: Prospective, controlled interventional study over 4 years.

    Setting: Single, tertiary, academic medical center. Read More

    Nutrients intake, and serum calcium and phosphorus levels: An evidence-based study.
    J Clin Lab Anal 2017 Nov 7. Epub 2017 Nov 7.
    Metabolic syndrome Research center, Mashhad University of Medical Sciences, Mashhad, Iran.
    Introduction: Dietary calcium and phosphorus appear to be important determinants of dyslipidemia and hypertension. We have investigated (1) the prevalence of hypocalcemia and hypophosphatemia in an Iranian population, and (2) the association between nutrient's intake and serum levels of calcium and phosphorus.

    Methods: A total of 908 individuals were enrolled using a stratified-cluster sampling method from the Mashhad stroke and heart atherosclerosis disorder (MASHHAD) study. Read More

    Correction to: X-linked hypophosphatemia and growth.
    Rev Endocr Metab Disord 2017 Nov 7. Epub 2017 Nov 7.
    Division of Pediatrics, Department of Medicine, Faculty of Medicine, University of Oviedo, Oviedo, Asturias, Spain.
    The authors of the article would like to note an error in the acknowledgements section of this paper. Read More

    Long-Term Use of Cinacalcet in Kidney Transplant Recipients With Hypercalcemic Secondary Hyperparathyroidism: A Single-Center Prospective Study.
    Exp Clin Transplant 2017 Oct 31. Epub 2017 Oct 31.
    From the Department of Nephrology and Renal Transplantation, University Hospital of Patras, Patras, Greece.
    Objectives: Persistent secondary hyperparathyroidism is common after successful kidney transplant, with concomitant hypercalcemia and hypophosphatemia potentially leading to reduced graft survival and increased cardiovascular risk. Cinacalcet, a calcimimetic agent that activates the calcium-sensing receptors in parathyroid glands, is a therapeutic option. In this study, we assessed the long-term treatment effects of cinacalcet for a period of up to 5 years in a cohort of kidney transplant recipients. Read More

    The Foot That Broke Both Hips: A Case Report and Literature Review of Tumor-Induced Osteomalacia.
    Case Rep Rheumatol 2017 14;2017:3191673. Epub 2017 Sep 14.
    Rheumatology Department, Allegheny Health Network, Pittsburgh, PA, USA.
    Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by hypophosphatemia and clinical symptoms of osteomalacia. Only discussed as case reports, there is still limited knowledge of this condition as a potentially curable cause of osteomalacia among clinicians and pathologists. In this article, we present a case of tumor-induced osteomalacia in a 59-year-old gentleman followed by an up-to-date review of the existing literature on TIO. Read More

    Risk Factors for the Development of Refeeding Syndrome-Like Hypophosphatemia in Very Low Birth Weight Infants.
    Dis Markers 2017 5;2017:9748031. Epub 2017 Sep 5.
    Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, 23-3 Shimoaizuki, Matsuoka, Eiheiji-cho, Yoshida-gun, Fukui 910-1193, Japan.
    Background: Refeeding syndrome is characterized by metabolic disturbance including hypophosphatemia and hypokalemia upon reinstitution of nutrition in severely malnourished patients.

    Objective: The present study sought to identify the risk factors for the development of refeeding syndrome-like metabolic disturbance in very low birth weight infants.

    Methods: The correlations of severe hypophosphatemia with the serum levels of potassium and ionized calcium, daily calorie and phosphate intake, and umbilical cord blood flow on ultrasonography were analyzed in 49 very low birth weight infants. Read More

    The safety of available treatment options for iron-deficiency anemia.
    Expert Opin Drug Saf 2018 Feb 20;17(2):149-159. Epub 2017 Nov 20.
    c Nephrology, Hull and East Yorkshire Hospitals NHS Trust , Hull York Medical School , Kingston upon Hull , UK.
    Introduction: Iron deficiency (ID), with or without anemia, is highly prevalent worldwide and has clinical consequences. The prevention and treatment of ID is a major public health goal. Accurate diagnosis, selection of the appropriate iron replacement therapy and addressing the underlying cause, remain as the main challenges in ID management. Read More

    [Incidence of hypophosphatemia in not critically ill patients with enteral feeding].
    Nutr Hosp 2017 Jul 28;34(4):761-766. Epub 2017 Jul 28.
    Servicio de Endocrinología y Nutrición. Complexo Hospitalario UNiversitario de Ourense.
    Background: Up to 30-40% of the patients starting artificial nutritional support develop hypophosphatemia. In general, patients with mild and moderate hypophosphatemia do not have symptoms, but severe hypophosphatemia is the hallmark of refeeding syndrome.

    Aim: To determine the incidence of hypophosphatemia in not critically ill patients receiving enteral feeding. Read More

    Evidence for Bone and Mineral Metabolism Alterations in Children With Autosomal Dominant Polycystic Kidney Disease.
    J Clin Endocrinol Metab 2017 Nov;102(11):4210-4217
    Department of Pediatric Nephrology, University Hospitals Leuven, Leuven 3000, Belgium.
    Context: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease. Hypophosphatemia was demonstrated in adult patients with preserved renal function, together with high fibroblast growth factor 23 (FGF23) and low soluble Klotho levels. The latter explained the relative FGF23 hyporesponsiveness in this cohort. Read More

    [Causes, consequences and treatment of hypophosphatemia: A systematic review].
    Presse Med 2017 Nov 28;46(11):987-999. Epub 2017 Oct 28.
    University hospital of Brest, department of biochemistry and pharmaco-toxicology, 29200 Brest, France.
    Context: Although hypophosphatemia is usually very seldom, it can reach two to 3% of hospitalized patients and until 28% of intensive care unit patients. Due to the lack of knowledge, clinical practice regarding seeking or treatment of hypophosphatemia is very heterogenous. However its clinical consequences might be heavy. Read More

    Aggressive Treatment of Life-Threatening Hypophosphatemia During Recovery From Fulminant Hepatic Failure: A Case Report.
    J Intensive Care Med 2017 Jan 1:885066617738715. Epub 2017 Jan 1.
    1 Department of Pharmacy Services, University of Kentucky HealthCare, Lexington, KY, USA.
    Acute liver failure secondary to acetaminophen overdose can be a life-threatening condition, characterized by severe electrolyte derangements. Hepatocyte regeneration is associated with phosphorous utilization and is a known complication of liver recovery following injury. We report the case of profound, life-threatening hypophosphatemia following recovery from acute fulminant liver failure. Read More

    Hormonal Regulation of Osteocyte Perilacunar and Canalicular Remodeling in the Hyp Mouse Model of X-Linked Hypophosphatemia.
    J Bone Miner Res 2017 Oct 30. Epub 2017 Oct 30.
    Harvard Medical School, Boston, MA, USA.
    Osteocytes remodel their surrounding perilacunar matrix and canalicular network to maintain skeletal homeostasis. Perilacunar/canalicular remodeling is also thought to play a role in determining bone quality. X-linked hypophosphatemia (XLH) is characterized by elevated serum fibroblast growth factor 23 (FGF23) levels, resulting in hypophosphatemia and decreased production of 1,25 dihydroxyvitamin D (1,25D). Read More

    Randomized Clinical Trial of Sevelamer Carbonate on Serum Klotho and Fibroblast Growth Factor 23 in CKD.
    Clin J Am Soc Nephrol 2017 Dec 26;12(12):1930-1940. Epub 2017 Oct 26.
    Due to the number of contributing authors, the affiliations are provided in the Supplemental Material.
    Background And Objectives: Epidemiologic studies suggest that higher serum phosphaturic hormone fibroblast growth factor 23 levels are associated with increase morbidity and mortality. The aim of the FGF23 Reduction Efficacy of a New Phosphate Binder in CKD Trial was to evaluate the effect of sevelamer carbonate on serum C-terminal fibroblast growth factor 23 levels in normophosphatemic patients with CKD stage 3b/4.

    Design, Setting, Participants, & Measurements: Patients with CKD, eGFR between 45 and 15 ml/min per 1. Read More

    Hypophosphatemia, Severe Bone Pain, Gait Disturbance, and Fatigue Fractures After Iron Substitution in Inflammatory Bowel Disease: A Case Report.
    J Bone Miner Res 2017 Oct 25. Epub 2017 Oct 25.
    Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Med. Dept., Hanusch Hospital, Vienna, Austria.
    Intravenous infusions of different iron formulations are recognized as a cause of hypophosphatemia. Chronic hypophosphatemia can alter bone metabolism and bone material structure. As a consequence, osteomalacia may develop and lead to bone fragility. Read More

    Epidermal nevus syndromes: New insights into whorls and swirls.
    Pediatr Dermatol 2017 Oct 16. Epub 2017 Oct 16.
    Department of Dermatology, University of California, San Francisco, Santa Rosa, CA, USA.
    Knowledge of the molecular underpinnings of many epidermal nevi and epidermal nevus syndrome has expanded rapidly in recent years. In this review and update on epidermal nevus syndrome, we will cover recent genetic discoveries involving epidermal nevi, including nevus sebaceus, keratinocytic epidermal nevus, nevus comedonicus, congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome, phakomatosis pigmentokeratotica, Becker's nevus, porokeratotic adnexal ostial nevus, inflammatory linear verrucous epidermal nevi, and cutaneous-skeletal hypophosphatemia syndrome. We will discuss how newly defined mutations relate to the biology reflected in the cutaneous patterns seen in these mosaic disorders and how new molecular data has informed our understanding of these diseases and shaped management decisions. Read More

    Phosphaturic mesenchymal tumor (PMT): exceptionally rare disease, yet crucial not to miss.
    Autops Case Rep 2017 Jul-Sep;7(3):32-37. Epub 2017 Sep 30.
    University of California, Davis, Department of Pathology, Laboratory Medicine. Sacramento, CA, USA.
    Phosphaturic mesenchymal tumors (PMTs) are very rare tumors which are frequently associated with Tumor Induced Osteomalacia (TIO), a paraneoplastic syndrome that manifests as renal phosphate wasting. The tumor cells produce a peptide hormone-like substance known as fibroblast growth factor 23 (FGF23), a physiologic regulator of phosphate levels. FGF23 decreases proximal tubule reabsorption of phosphates and inhibits 1-α-hydroxylase, which reduces levels of 1-α, 25-dihydroxyvitamine D3. Read More

    Sorafenib-Regorafenib Sequential Therapy in Advanced Hepatocellular Carcinoma: A Single-Institute Experience.
    Dig Dis 2017 17;35(6):611-617. Epub 2017 Oct 17.
    Department of Gastroenterology and Hepatology, Kindai University Faculty of Medicine, Osaka-Sayama, Japan.
    Objectives: Previously, no therapeutic agent has been known to improve the overall survival compared with placebo in patients with hepatocellular carcinoma (HCC), who have progressed after sorafenib. In this patient population, regorafenib was first demonstrated to confer a survival benefit in the RESORCE trial, and subsequently it was approved as a second-line treatment for patients with advanced HCC. An open-label expanded access program (EAP) of regorafenib was implemented for compassionate use. Read More

    A multicenter, randomized study of decitabine as epigenetic priming with induction chemotherapy in children with AML.
    Clin Epigenetics 2017 5;9:108. Epub 2017 Oct 5.
    Department of Translational Genomics and Norris Comprehensive Cancer Center, Jane Anne Nohl Division of Hematology, Keck School Medicine of University of Southern California, Los Angeles, CA USA.
    Background: Decitabine is a deoxycytidine nucleoside derivative inhibitor of DNA-methyltransferases, which has been studied extensively and is approved for myelodysplastic syndrome in adults but with less focus in children. Accordingly, we conducted a phase 1 multicenter, randomized, open-label study to evaluate decitabine pre-treatment before standard induction therapy in children with newly diagnosed AML to assess safety and tolerability and explore a number of biologic endpoints.

    Results: Twenty-four patients were fully assessable for all study objectives per protocol (10 in Arm A = epigenetic priming induction, 14 in Arm B = standard induction). Read More

    Comparative safety of intravenous Ferumoxytol versus Ferric Carboxymaltose for the Treatment of Iron Deficiency Anemia: rationale and study design of a randomized double-blind study with a focus on acute hypersensitivity reactions.
    J Blood Med 2017 26;8:155-163. Epub 2017 Sep 26.
    AMAG Pharmaceuticals, Inc., Waltham, MA, USA.
    Background: Intravenous (IV) iron is often used to treat iron deficiency anemia in patients who are unable to tolerate or are inadequately managed with oral iron. However, IV iron treatment has been associated with acute hypersensitivity reactions. The comparative risk of adverse events (AEs) with IV iron preparations has been assessed by a few randomized controlled trials, which are most often limited by small patient numbers, which lack statistical power to identify differences in low-frequency AE such as hypersensitivity reactions. Read More

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