8,894 results on '"Hypophosphatemia"'
Search Results
2. Study of the Safety, Pharmacodynamics (PD) and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH)
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- 2024
3. Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH)
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Kyowa Kirin Co., Ltd.
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- 2024
4. Study of KRN23 (Burosumab), a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH)
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Kyowa Kirin Co., Ltd.
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- 2024
5. Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Patients Less Than 1 Year of Age
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- 2024
6. Baby Detect : Genomic Newborn Screening
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Centre Hospitalier Régional de la Citadelle, University of Liege, Sanofi, Orchard Therapeutics, Takeda, Zentech-Lacar Company, Leon Fredericq Foundation, and Laurent Servais, Professor
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- 2024
7. IV Iron-induced Hypophosphatemia After RYGB (IVORY)
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Lucie Favre, Co-director of the Obesity Center, CHUV
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- 2024
8. Metabolic Pathway Analysis in Intensive Care Unit Patients With Refeeding Syndrome
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Martin Sundstrom Rehal, Principal Investigator
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- 2024
9. Burosumab for Fibroblast Growth Factor-23 Mediated Hypophosphatemia in Fibrous Dysplasia
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- 2024
10. Calcitriol Monotherapy for X-Linked Hypophosphatemia
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National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and Eva Liu, Assistant Professor of Medicine
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- 2024
11. X-linked Hypophosphatemia Disease Monitoring Program
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Kyowa Kirin Co., Ltd.
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- 2024
12. Expanded Access to Burosumab
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Kyowa Kirin Co., Ltd.
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- 2024
13. Validation of the GIDS and Description of Phosphate Disorders (GUTPHOS)
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Annika Reintam Blaser, Associate Professor
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- 2024
14. The Impact of Phosphate Metabolism on Healthy Aging
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National Center for Advancing Translational Sciences (NCATS)
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- 2024
15. Elemental Milk Formula as a Possible Cause of Hypophosphatemic Rickets in Wiedemann-Steiner Syndrome.
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Al-Juraibah, Fahad, Melha, Maali, Alromaih, Azam, Al-Sunaid, Areej, and Alkhalaf, Hamad Abdullah
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OSTEOPENIA , *RADIOGRAPHY , *PHOSPHORUS , *PHOSPHOLIPIDS , *SUGAR phosphates , *RICKETS , *INFANT formulas , *AMINO acids , *BIOAVAILABILITY , *MULTIPLE human abnormalities , *HYPOPHOSPHATEMIA , *DISEASE complications - Abstract
Phosphate has a fundamental role in bone mineralization, and its chronic deficiency has multiple negative consequences in the body, including defects in bone mineralization that will manifest in children as rickets and osteomalacia. Here we present a young boy known to have Wiedemann-Steiner syndrome with multiple co-morbidities that necessitated gastric tube feeding. The child at 22 months was found to have hypophosphatemia and a high alkaline phosphatase level associated with rachitic skeletal manifestations that were attributed to low phosphate intake and/or gastrointestinal absorption, as there was no evidence of excessive phosphate wasting based on appropriate tubular renal re-absorption of phosphate. The primary nutritional source was an elemental amino acid-based milk formula (Neocate®) from 12 months of age. After switching from Neocate® to another elemental amino-acid based milk formula, all biochemical and radiological abnormalities returned to normal, indicating that the Neocate® formula was the possible cause of the patient's low phosphate intake. However, in the literature, this formula-associated effect was only described in a limited number of patients. Whether or not some patient-related factors, such as the very rare syndrome described in our patient, could influence this effect warrants further exploration. [ABSTRACT FROM AUTHOR]
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- 2024
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16. Burosumab Efficacy and Safety in Patients with X-Linked Hypophosphatemia: Systematic Review and Meta-analysis of Real-World Data.
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Kiafzezi, Damiani, Stamati, Athina, Karagiannis, Thomas, Goulis, Dimitrios G., and Christoforidis, Athanasios
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CONFIDENCE intervals , *HYPOPHOSPHATEMIA , *PATIENT safety , *CLINICAL trials , *RICKETS - Abstract
To assess the efficacy and safety of burosumab in children and adults with X-linked hypophosphatemia based on real-world evidence. MEDLINE (via PubMed) and Cochrane Library were searched until 18 October 2023 for single-arm (before-after) studies. Registries including Clinicaltrials.gov, EU Clinical Trials, WHO International Clinical Trials Registry Platform, and conference abstracts. The outcomes were a change in serum phosphorus concentrations and change in RSS, a change in serum ALP, bone-specific ALP, a change in the ratio of Tubular maximum reabsorption of Phosphate to Glomerular Filtrate rate, a change in serum 1,25(OH)2D and 25(OH)2D concentrations, change in height Z-score, McMaster Universities Osteoarthritis Index (WOMAC) and safety outcomes. An inverse variance random-effects meta-analysis was applied for data synthesis. Fifteen studies (289 participants) were included. Burosumab treatment improved serum phosphate concentrations [mean difference 0.88 mg/dl, 95% confidence interval 0.70 to 1.07, I2 = 92%), Rickets Severity score (mean difference − 1.86, 95% confidence interval − 2.5 to − 1.21, I2 = 71%), serum alkaline phosphate concentrations (mean difference − 1.86, 95% confidence interval − 2.5 to − 1.21, I2 = 71%), serum 1,25(OH)2D concentrations (mean difference 18.91 pg/ml, 95% confidence interval 6.39 to 31.43, I2 = 96%) and renal phosphate reabsorption (mean difference 1.22 mg/dl, 95% confidence interval 0.70 to 1.74, I2 93%). Burosumab treatment improved overall clinical and laboratory findings in patients with X-linked hypophosphatemia. [ABSTRACT FROM AUTHOR]
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- 2024
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17. Meta-analysis and systematic review: burosumab as a promising treatment for children with X-linked hypophosphatemia.
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Kangning Wang, Runze Zhang, Ziyi Chen, Yi Bai, and Qing He
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GLOMERULAR filtration rate ,CHILD patients ,ALKALINE phosphatase ,BIOMARKERS ,HYPOPHOSPHATEMIA - Abstract
Objective: The aim of this study was to evaluate the effectiveness of burosumab therapy in children with X-Linked Hypophosphatemia (XLH). Materials and methods: We systematically reviewed literature from PubMed, Web of Science, The Cochrane Library, and Embase up until January 2024, using EndNote Web for study organization. The Newcastle-Ottawa scale guided quality assessment, while Revman software was used for data analysis and visualization. Study selection, quality evaluation, and data aggregation were independently performed by three researchers. Results: The meta-analysis encompassed ten studies, including eight cohort studies that examined burosumab's impact pre- and post-administration, and two randomized controlled trials comparing burosumab to standard therapy. The evidence from this review suggests burosumab's superiority in managing XLH in pediatric populations, particularly in improving key biochemical markers including 1,25-dihydroxyvitamin D (1,25-(OH)
2 D), phosphorus, and alkaline phosphatase (ALP), alongside improvements in the renal tubular maximum reabsorption rate of phosphate to glomerular filtration rate (TmP/GFR), and significant skeletal improvements as indicated by the rickets severity score (RSS) and the 6-minute walk test (6MWT). However, the long-term safety and effects, including height and quality of life (QOL) data, remains to be elucidated. Conclusions: Burosumab has shown significant therapeutic effectiveness in treating children with XLH, highlighting its potential as a key treatment option. [ABSTRACT FROM AUTHOR]- Published
- 2024
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18. Contributing factors to hypophosphatemia development in critically Ill ventilated patients: a retrospective cohort study.
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Statlender, Liran, Raphaeli, Orit, Shochat, Tzippy, Robinson, Eyal, Hellerman Itzhaki, Moran, Bendavid, Itai, Fishman, Guy, Singer, Pierre, and Kagan, Ilya
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APACHE (Disease classification system) , *HYPOPHOSPHATEMIA , *BREASTFEEDING , *CRITICALLY ill , *PROPORTIONAL hazards models - Abstract
Hypophosphatemia (serum phosphate < 2.5 mg/dL) is a major concern when initiating nutritional support. We evaluated which factors contribute to hypophosphatemia development in critically ill patients, as well as the association between hypophosphatemia and mortality. A retrospective cohort study of patients who were ventilated for at least 2 days in a 16-bed mixed ICU. Data collected includes demographics, Acute Physiology & Chronic Health Evaluation 2 (APACHE2) admission score, Sequential Organ Failure Assessment score at 24 h (SOFA24), hourly energy delivery, plasma phosphate levels during the first 2 weeks of admission, ICU length of stay (LOS), length of ventilation (LOV), and mortality (ICU and 90 days). For the hypophosphatemia development model, we considered mortality as a competing risk. For mortality analysis, we used the Cox proportional hazards model considering hypophosphatemia development as a time-varying covariate. 462 patients were used in the analysis. 59.52% of the patients developed hypophosphatemia. Several factors were associated with a decreased risk of hypophosphatemia: age, BMI, pre-admission diabetes diagnosis, APACHE2, SOFA24, first kidney SOFA score, hospital admission time before ICU admission, and admission after liver transplantation. Admission due to trauma was associated with an increased risk of hypophosphatemia. Survival analysis with hypophosphatemia as a time-varying covariate showed a protective effect of hypophosphatemia from mortality (HR 0.447, 95% CI 0.281, 0.712). Age, APACHE2, and SOFA24 score were found to be significantly associated with ICU mortality. Fasting duration in the ICU before nutritional support initiation was not found to be significantly associated with hypophosphatemia. We examined several fasting intervals (12 h, 24 h, 36 h, 48 h, 60 h, 72 h). In each fast interval, we compared the prevalence of hypophosphatemia among patients who fasted the specified length of time, with those who did not fast for the same length of time. In each fasting interval, hypophosphatemia prevalence was lower in the fasting group compared to the non-fasting group. However, this difference was insignificant. BMI, APACHE2, and hospital LOS before ICU admission were inversely associated with hypophosphatemia development. Fasting for up to 72 h in the ICU before starting nutritional support did not affect hypophosphatemia occurrence. Hypophosphatemia was associated with lower mortality. [ABSTRACT FROM AUTHOR]
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- 2024
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19. Intermittent hemodialysis as a rewarming strategy for severe hypothermia in patients without renal failure: a case report.
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Usman, Shaheryar, Daloya, Jordan, Khan, Muhammad Jahanzaib, Haseeb, Shahan, Patel, Himani, Mustafa, Saleem, and Pantic, Dorjan
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HYPOTHERMIA treatment , *HYPOTHERMIA , *EXTRACORPOREAL membrane oxygenation , *THERMOTHERAPY , *HYPERKALEMIA , *HEMODIALYSIS , *SEVERITY of illness index , *TREATMENT effectiveness , *CARDIOPULMONARY bypass , *RESUSCITATION , *LACTIC acidosis , *TEMPERATURE , *ALCOHOL drinking , *DRUGS , *HYPOPHOSPHATEMIA , *DISEASE complications - Abstract
This case report highlights the effective use of intermittent hemodialysis (IHD) in warming a 71-year-old female patient with severe hypothermia who presented with a rectal temperature of 25 °C and signs of hemodynamic instability. The patient, found unconscious after prolonged exposure to cold exacerbated by alcohol consumption, initially showed some improvement in core temperature through active external rewarming methods. However, soon, her temperature plateaued at 27 °C. Patient was deemed unsuitable for extracorporeal membrane oxygenation (ECMO) or cardiopulmonary bypass (CPB) due to her age, and urgent IHD was initiated. This approach resulted in a stable increase in core temperature at approximately 2.0 °C/hr, along with normalization of lactic acidosis, creatinine phosphokinase, and correction of electrolyte imbalances, culminating in her full recovery and discharge after seven days in the hospital. After reviewing this case alongside similar ones from before, this case report highlights the efficacy and safety of IHD as an efficient, readily available, and less invasive method for rewarming moderate to severe hypothermic patients who are hemodynamically unstable patients but do not have cardiac arrest or renal dysfunction. IHD is especially useful when less invasive cooling devices (Artic Sun/ CoolGard) are not available or more invasive extracorporeal life support options (ECMO/ CPB) are either not indicated or unavailable. IHD can also help improve concurrent electrolyte imbalances and/or toxin buildup. The report further emphasizes the necessity of monitoring for potential complications, such as post-dialysis hypophosphatemia and rebound hyperkalemia, following successful rewarming. [ABSTRACT FROM AUTHOR]
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- 2024
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20. Hypophosphatemia attenuates improvements in vitality after intravenous iron treatment in patients with inflammatory bowel disease.
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Bjorner, J. B., Kennedy, N., Lindgren, S., and Pollock, R. F.
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IRON deficiency anemia , *INFLAMMATORY bowel diseases , *COST effectiveness , *QUALITY of life , *HYPOPHOSPHATEMIA , *MALTOSE - Abstract
Purpose: Iron deficiency anemia is common in people with inflammatory bowel disease (IBD), causing deterioration in quality of life, which can be reversed by treatment that increases iron stores and hemoglobin levels. The present post hoc analyses estimate health state utility values for patients with IBD after treatment with ferric derisomaltose or ferric carboxymaltose and evaluate the health domains driving the changes. Methods: SF-36v2 responses were recorded at baseline and day 14, 35, 49, and 70 from 97 patients enrolled in the randomized, double-blind, PHOSPHARE-IBD trial (ClinicalTrials.gov ID: NCT03466983), in which patients with IBD across five European countries were randomly allocated to either ferric derisomaltose or ferric carboxymaltose. Changes in SF-36v2 scale scores and SF-6Dv2 health utility values were analyzed by mixed models. Results: In both treatment arms, SF-6Dv2 utility values and all SF-36v2 scale scores, except Bodily Pain, improved significantly (p = < 0.0001). The improvement in SF-6Dv2 utility values showed no significant treatment group difference. The improvement in utility values was completely explained by improvement in Vitality scores. Vitality scores showed significantly larger improvement with ferric derisomaltose versus ferric carboxymaltose (p = 0.026). Patients with the smallest decrease in phosphate had significantly larger improvements in Vitality scores at each time point (p = < 0.05 for all comparisons) and overall (p = 0.0006). Conclusions: Utility values improved significantly with intravenous iron treatment. Improvement in utility values was primarily driven by Vitality scores, which showed significantly greater improvement in the ferric derisomaltose arm. Smaller decreases in phosphate were associated with significantly higher Vitality scores, suggesting that quality of life improvement is attenuated by hypophosphatemia. The utility values can inform future cost-utility analysis. [ABSTRACT FROM AUTHOR]
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- 2024
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21. A first-in-human phase I trial of daily oral zelenirstat, a N-myristoyltransferase inhibitor, in patients with advanced solid tumors and relapsed/refractory B-cell lymphomas.
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Sangha, Randeep, Jamal, Rahima, Spratlin, Jennifer, Kuruvilla, John, Sehn, Laurie H., Beauchamp, Erwan, Weickert, Michael, Berthiaume, Luc G., and Mackey, John R.
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BREAST cancer prognosis ,MELANOMA prognosis ,DRUG toxicity ,FEBRILE neutropenia ,DIARRHEA ,GASTROINTESTINAL tumors ,APPENDIX (Anatomy) ,PHYSICAL diagnosis ,PATIENT compliance ,ADENOCARCINOMA ,GALLBLADDER tumors ,BLADDER tumors ,SQUAMOUS cell carcinoma ,ANEMIA ,CANCER relapse ,RESEARCH funding ,LIQUID chromatography-mass spectrometry ,MELANOMA ,ANTINEOPLASTIC agents ,INVESTIGATIONAL drugs ,CLINICAL trials ,FATIGUE (Physiology) ,OVARIAN tumors ,COMPUTED tomography ,BLOOD collection ,ABDOMINAL pain ,BREAST tumors ,LEIOMYOSARCOMA ,CHOLANGITIS ,ORAL drug administration ,CANCER patients ,COLORECTAL cancer ,POSITRON emission tomography computed tomography ,DESCRIPTIVE statistics ,PROSTATE tumors ,PLEURAL tumors ,FEVER ,SMALL molecules ,EXPERIMENTAL design ,THROMBOCYTOPENIA ,KAPLAN-Meier estimator ,PANCREATIC tumors ,DRUG efficacy ,RESEARCH ,BLOOD plasma ,ANOREXIA nervosa ,LUNG tumors ,GASTRITIS ,VOMITING ,PROGRESSION-free survival ,DRUGS ,ANAL tumors ,MESOTHELIOMA ,DIVERTICULITIS ,B cell lymphoma ,DRUG tolerance ,HEMORRHAGE ,NEUTROPENIA ,NAUSEA ,OVERALL survival ,DISEASE progression ,GASTROESOPHAGEAL reflux ,DEHYDRATION ,HYPOPHOSPHATEMIA - Abstract
Myristoylation, the N-terminal addition of the fatty acid myristate to proteins, regulates membrane-bound signal transduction pathways important in cancer cell biology. This modification is catalyzed by two N-myristoyltransferases, NMT1 and NMT2. Zelenirstat is a first-in-class potent oral small molecule inhibitor of both NMT1 and NMT2 proteins. Patients with advanced solid tumors and relapsed/refractory (R/R) B-cell lymphomas were enrolled in an open label, phase I dose escalation trial of oral daily zelenirstat, administered in 28-day cycles until progression or unacceptable toxicity. The endpoints were to evaluate dose-limiting toxicities (DLT) to establish a maximum tolerated dose (MTD), pharmacokinetic parameters, and anticancer activity. Twenty-nine patients were enrolled (25 advanced solid tumor; 4 R/R B-cell lymphoma) and 24 were DLT-evaluable. Dosing ranged from 20 mg once daily (OD) to 210 mg OD without DLT, but gastrointestinal DLTS were seen in the 280 mg cohort. MTD and recommended phase 2 dose were 210 mg OD. Common adverse events were predominantly Gr ≤ 2 nausea, vomiting, diarrhea, and fatigue. Plasma concentrations peaked at 2 h with terminal half-lives averaging 10 h. Steady state was achieved by day 15, and higher doses achieved trough concentrations predicted to be therapeutic. Stable disease as best response was seen in eight (28%) patients. Progression-free survival and overall survival were significantly better in patients receiving 210 mg OD compared to those receiving lower doses. Zelenirstat is well-tolerated, achieves plasma exposures expected for efficacy, and shows early signs of anticancer activity. Further clinical development of zelenirstat is warranted. [ABSTRACT FROM AUTHOR]
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- 2024
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22. The Diagnostic Odyssey in Children and Adolescents With X-linked Hypophosphatemia: Population-Based, Case–Control Study.
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Boardman-Pretty, Freya, Clift, Ashley Kieran, Mahon, Hadley, Sawoky, Nadine, and Mughal, M Zulf
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SYSTEMATIZED Nomenclature of Medicine ,HYPOPHOSPHATEMIA ,DELAYED diagnosis ,PRIMARY care ,FISHER exact test ,TEENAGE girls - Abstract
Context X-linked hypophosphatemia (XLH) is a rare genetic disorder causing renal phosphate wasting, which predicates musculoskeletal manifestations such as rickets. Diagnosis is often delayed. Objective To explore the recording of clinical features, and the diagnostic odyssey of children and adolescents with XLH in primary care electronic healthcare records (EHRs) in the United Kingdom. Methods Using the Optimum Patient Care Research Database, individuals aged 20 years or younger after January 1, 2000, at date of recorded XLH diagnosis were identified using Systematized Nomenclature of Medicine Clinical Terms (SNOMED)/Read codes and age-matched to 100 controls. Recording of XLH-related clinical features was summarized then compared between cases and controls using chi-squared or Fisher's exact test. Results In total, 261 XLH cases were identified; 99 met the inclusion criteria. Of these, 84/99 had at least 1 XLH-related clinical feature recorded in their primary care EHR. Clinical codes for rickets, genu varum, and low phosphate were recorded prior to XLH diagnosis in under 20% of cases (median of 1, 1, and 3 years prior, respectively). Rickets, genu varum, low phosphate, nephrocalcinosis, and growth delay were significantly more likely to be recorded in cases. Conclusion This characterization of the EHR phenotypes of children and adolescents with XLH may inform future case-finding approaches to expedite diagnosis in primary care. [ABSTRACT FROM AUTHOR]
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- 2024
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23. Relationship between gut microbiome and bone deficits in primary hyperparathyroidism: A proof-of-concept pilot study.
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Coskun, Meric, Babayeva, Afruz, Barlas, Tugba, Muhittin Yalcin, Mehmet, Akturk, Mujde, Balos Toruner, Fusun, Ayhan Karakoc, Mehmet, Karakan, Tarkan, Cindoruk, Mehmet, Yetkin, Ilhan, and Eroglu Altinova, Alev
- Abstract
Parathyroid hormone (PTH) interacts with components of the gut microbiota to exert its bone-regulating effects. This study aimed to investigate the gut microbial composition in patients with primary hyperparathyroidism (PHPT). Nine patients with PHPT and nine age–sex and body mass index-matched healthy controls were included. Gut microbial composition was assessed using 16S rRNA gene amplicon sequencing in both groups at baseline and 1 month after parathyroidectomy in the PHPT group. Data were imported into QIIME-2 and both QIIME-2 and R packages were used for microbiome analysis. Alpha and beta diversities were similar between the groups and remained unchanged after parathyroidectomy. The relative abundance of S ubdoligranulum was significantly higher, whereas Ruminococcus, Alloprevotella, Phascolarctobacterium, and Clostridium sensu stricto_1 were significantly lower in PHPT than in controls (p < 0.001). After parathyroidectomy, the relative abundance of Subdoligranulum decreased, and Ruminococcus and Alloprevotella increased (p < 0.001). The PHPT group had lower total femoral and lumbar bone mineral density (BMD) than the controls (p < 0.05). At baseline, Alloprevotella abundance was positively correlated with serum phosphorus and Subdoligranulum was positively correlated with total lumbar BMD. Clostridium sensu stricto_1 was negatively correlated with serum calcium and positively correlated with femoral neck BMD. Postoperatively, Alloprevotella was positively correlated with baseline serum phosphorus and Phascolarctobacterium was positively correlated with distal radius BMD. This study demonstrated that the diversity of the gut microbiome was altered, possibly in response to electrolyte changes in PHPT, both before and after parathyroidectomy. [ABSTRACT FROM AUTHOR]
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- 2024
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24. The association between serum phosphate and length of hospital stay and all-cause mortality in adult patients: a cross-sectional study.
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Zhou, Yiquan, Zhang, Shuyi, Chen, Zhiqi, Zhang, Xiaomin, Feng, Yi, and Xu, Renying
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Background: Data is limited on the prevalence of hypophosphatemia in general hospitalized patients, and its association with length of hospital stay (LOS) and mortality remained unclear. We aimed to investigate the prevalence of admission phosphate abnormality and the association between serum phosphate level and length of hospital stay and all-cause mortality in adult patients. Methods: This was a multi-center retrospective study based on real-world data. Participants were classified into five groups according to serum phosphate level (inorganic phosphorus, iP) within 48 h after admission: G1, iP < 0.64 mmol/L; G2, iP 0.64–0.8 mmol/L; G3, iP 0.8–1.16 mmol/L; G4, iP 1.16–1.45 mmol/L; and G5, iP ≥ 1.45 mmol/L, respectively. Both LOS and in-hospital mortality were considered as outcomes. Clinical information, including age, sex, primary diagnosis, co-morbidity, and phosphate-metabolism related parameters, were also abstracted from medical records. Results: A total number of 23,479 adult patients (14,073 males and 9,406 females, aged 57.7 ± 16.8 y) were included in the study. The prevalence of hypophosphatemia was 4.74%. An "L-shaped" non-linear association was determined between serum phosphate level and LOS and the inflection point was 1.16 mmol/L in serum phosphate level. Compared with patients in G4, patients in G1, G2 or G3 were significantly associated with longer LOS after full adjustment of covariates. Each 0.1 mmol/L decrease in serum phosphate level to the left side of the inflection point led to 0.64 days increase in LOS [95% confidence interval (CI): 0.46, 0.81; p for trend < 0.001]. But there was no association between serum phosphate and LOS where serum levels of phosphate ≥ 1.16 mmol/L. Multivariable logistic regression analysis showed that adjusted all-cause in-hospital mortality was 3.08-fold greater in patients in G1 than those in G4 (95% CI: 1.52, 6.25; p for trend = 0.001). Similarly, no significant association with either LOS or mortality were found in patients in G5, comparing with G4. Conclusions: Hypophosphatemia, but not hyperphosphatemia, was associated with LOS and all-cause mortality in adult inpatients. It is meaningful to monitor serum levels of phosphate to facilitate early diagnosis and intervention. [ABSTRACT FROM AUTHOR]
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- 2024
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25. Long-term Evolution of Hypophosphatemia and Osteomalacia in a Patient With Multiple Myeloma.
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Zomorodian, Alireza and Maalouf, Naim M.
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FANCONI syndrome , *BONE density , *MULTIPLE myeloma , *LONG-Term Evolution (Telecommunications) , *BONE diseases , *HYPOPHOSPHATEMIA - Abstract
Multiple myeloma commonly manifests with symptoms arising from the involvement of various organs, particularly the bone and kidneys. In this report, we detail the case of a 44-year-old man who was diagnosed with multiple myeloma associated with reduced bone density. He exhibited clinical findings of osteomalacia due to Fanconi syndrome (characterized clinically by bone pain and proximal weakness and biochemically by elevated serum alkaline phosphatase, hypophosphatemia, hypouricemia, and glucosuria). With phosphate replacement, there was a notable improvement in bone pain, osteomalacia, and bone mineral density. Nevertheless, the patient continued to experience renal wasting of phosphate, uric acid, and glucose despite achieving remission from multiple myeloma for nearly 2 years. Our case highlights several important clinical features of myeloma-associated Fanconi syndrome, including the need to recognize this complication to appropriately treat the underlying bone disease while avoiding osteoclast inhibitors and the long-term persistence of the proximal renal tubulopathy despite achieving remission from myeloma and correction of osteomalacia. [ABSTRACT FROM AUTHOR]
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- 2024
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26. Effect of dietary phosphorus deprivation during the dry period on the liver transcriptome of high-yielding periparturient dairy cows.
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Ringseis, Robert, Wächter, Sophia, Cohrs, Imke, Eder, Klaus, and Grünberg, Walter
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LACTATION in cattle , *LACTATION , *DAIRY cattle , *SOMATOMEDIN C , *PROGESTERONE , *HOLSTEIN-Friesian cattle , *LIVER , *TRANSCRIPTOMES - Abstract
Although dietary phosphorus (P) deprivation extending from the dry period into early lactation impairs health and productivity of cows, restricting dietary P supply during the dry period not only appears to be innocuous but rather effectively mitigates hypocalcemia during the first wk of lactation. To investigate possible negative metabolic effects of P deprivation during the dry period, the present study tested the hypothesis that restricted dietary P supply during the dry period alters the liver transcriptome of dairy cows during the periparturient period. Thirty late-pregnant multiparous Holstein-Friesian dairy cows entering their second, third, or fourth lactation were assigned to either a dry cow ration with low (LP, 0.16% P in DM) or adequate P content (AP, 0.35% in DM) during the last 4 wk of the dry period (n = 15/group). Liver transcriptomics, which was carried out in a subset of 5 second-parity cows of each group (n = 5), and determination of selected hormones and metabolites in blood of all cows, was performed ∼1 wk before calving and on d 3 postpartum. Liver tissue specimens and blood samples were obtained by a micro-invasive biopsy technique from the right tenth intercostal space and puncture of a jugular vein, respectively. One hundred seventy-five hepatic transcripts were expressed differentially between LP versus AP cows in late pregnancy, and 165 transcripts differed between LP versus AP cows in early lactation (fold change >1.3 and <−1.3, P < 0.05). In late pregnancy, the enriched biological processes of the upregulated and the downregulated transcripts were mainly related to immune processes and signal transduction (P < 0.05), respectively. In early lactation, the enriched biological processes of the upregulated and the downregulated transcripts were involved in mineral transport and biotransformation (P < 0.05), respectively. The plasma concentrations of the hormones and acute-phase proteins (progesterone, insulin-like growth factor 1, serum amyloid α, haptoglobin, and 17β-estradiol) determined were not affected by P supply. These results suggest that P deprivation during the dry period moderately affects the liver transcriptome of cows in late pregnancy and early lactation, and causes no effects on important plasma hormones and acute-phase proteins indicating no obvious impairment of health or metabolism of the cows. [ABSTRACT FROM AUTHOR]
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- 2024
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27. The Power and Perils of Electronic Health Record-Enabled Pragmatic Trials.
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Maiga, Amelia W., DeMasi, Stephanie C., Qian, Edward T., Semler, Matthew W., and Casey, Jonathan D.
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CRITICALLY ill patient care , *CLINICAL trials monitoring , *HYPOPHOSPHATEMIA , *H2 receptor antagonists , *RETURN of spontaneous circulation , *HEALTH information technology , *TRAUMA surgery , *DATA visualization software - Abstract
This article explores the benefits and challenges of conducting pragmatic trials using electronic health records (EHRs). Pragmatic trials are crucial for informing clinical practice when there is limited data available. EHRs offer advantages such as accessibility and the ability to enroll large numbers of patients quickly. However, there are unique challenges in conducting EHR-enabled trials, including potential biases and contamination of treatment groups. Real-time monitoring of enrollment and safety events is also difficult. Despite these challenges, EHR-enabled trials have shown promising results in various fields. The article emphasizes the importance of careful planning, monitoring, and validation of data in EHR-enabled trials to ensure accurate and reliable results. It also discusses the potential benefits and limitations of EHR-enabled trials in improving patient care. [Extracted from the article]
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- 2024
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28. A Randomized Noninferiority Trial to Compare Enteral to Parenteral Phosphate Replacement on Biochemistry, Waste, and Environmental Impact and Healthcare Cost in Critically Ill Patients With Mild to Moderate Hypophosphatemia.
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Nguyen, Chinh D., Panganiban, Haustine P., Fazio, Timothy, Karahalios, Amalia, Ankravs, Melissa J., Mac Isaac, Christopher M., Rechnitzer, Thomas, Arno, Lucy, Tran-Duy, An, McAlister, Scott, Abdelhamid, Yasmine Ali, and Deane, Adam M.
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POTASSIUM dihydrogen phosphate , *CRITICALLY ill , *HYPOPHOSPHATEMIA , *MEDICAL care costs , *CRITICALLY ill patient care , *PHOSPHATES , *ENTERAL feeding - Abstract
OBJECTIVES: Hypophosphatemia occurs frequently. Enteral, rather than IV, phosphate replacement may reduce fluid replacement, cost, and waste. DESIGN: Prospective, randomized, parallel group, noninferiority clinical trial. SETTING: Single center, 42-bed state trauma, medical and surgical ICUs, from April 20, 2022, to July 1, 2022. PATIENTS: Patients with serum phosphate concentration between 0.3 and 0.75 mmol/L. INTERVENTIONS: We randomized patients to either enteral or IV phosphate replacement using electronic medical record-embedded program. MEASUREMENT AND MAIN RESULTS: Our primary outcome was serum phosphate at 24 hours with a noninferiority margin of 0.2 mmol/L. Secondary outcomes included cost savings and environmental waste reduction and additional IV fluid administered. The modified intention-to-treat cohort comprised 131 patients. Baseline phosphate concentrations were similar between the two groups. At 24 hours, mean (sd) serum phosphate concentration were enteral 0.89 mmol/L (0.24 mmol/L) and IV 0.82 mmol/L (0.28 mmol/L). This difference was noninferior at the margin of 0.2 mmol/L (difference, 0.07 mmol/L; 95% CI, -0.02 to 0.17 mmol/L). When assigned IV replacement, patients received 408 mL (372 mL) of solvent IV fluid. Compared with IV replacement, the mean cost per patient was ten-fold less with enteral replacement ($3.7 [$4.0] vs. IV: $37.7 [$31.4]; difference = $34.0 [95% CI, $26.3-$41.7]) and weight of waste was less (7.7 g [8.3 g] vs. 217 g [169 g]; difference = 209 g [95% CI, 168-250 g]). CO2 emissions were 60-fold less for comparable phosphate replacement (enteral: 2 g producing 14.2 g and 20 mmol of potassium dihydrogen phosphate producing 843 g of CO2 equivalents). CONCLUSIONS: Enteral phosphate replacement in ICU is noninferior to IV replacement at a margin of 0.2 mmol/L but leads to a substantial reduction in cost and waste. [ABSTRACT FROM AUTHOR]
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- 2024
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29. Contributing factors to hypophosphatemia development in critically Ill ventilated patients: a retrospective cohort study
- Author
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Liran Statlender, Orit Raphaeli, Tzippy Shochat, Eyal Robinson, Moran Hellerman Itzhaki, Itai Bendavid, Guy Fishman, Pierre Singer, and Ilya Kagan
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Hypophosphatemia ,Refeeding syndrome ,Fast ,Medicine ,Science - Abstract
Abstract Hypophosphatemia (serum phosphate
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- 2024
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30. The association between serum phosphate and length of hospital stay and all-cause mortality in adult patients: a cross-sectional study
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Yiquan Zhou, Shuyi Zhang, Zhiqi Chen, Xiaomin Zhang, Yi Feng, and Renying Xu
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Hypophosphatemia ,Hyperphosphatemia ,Length of hospital stay ,Mortality ,Real-world data ,Nutrition. Foods and food supply ,TX341-641 ,Nutritional diseases. Deficiency diseases ,RC620-627 - Abstract
Abstract Background Data is limited on the prevalence of hypophosphatemia in general hospitalized patients, and its association with length of hospital stay (LOS) and mortality remained unclear. We aimed to investigate the prevalence of admission phosphate abnormality and the association between serum phosphate level and length of hospital stay and all-cause mortality in adult patients. Methods This was a multi-center retrospective study based on real-world data. Participants were classified into five groups according to serum phosphate level (inorganic phosphorus, iP) within 48 h after admission: G1, iP
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- 2024
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31. Effect of dietary phosphorus deprivation during the dry period on the liver transcriptome of high-yielding periparturient dairy cows
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Robert Ringseis, Sophia Wächter, Imke Cohrs, Klaus Eder, and Walter Grünberg
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transition cow ,metabolism ,inflammation ,hypophosphatemia ,Dairy processing. Dairy products ,SF250.5-275 ,Dairying ,SF221-250 - Abstract
ABSTRACT: Although dietary phosphorus (P) deprivation extending from the dry period into early lactation impairs health and productivity of cows, restricting dietary P supply during the dry period not only appears to be innocuous but rather effectively mitigates hypocalcemia during the first wk of lactation. To investigate possible negative metabolic effects of P deprivation during the dry period, the present study tested the hypothesis that restricted dietary P supply during the dry period alters the liver transcriptome of dairy cows during the periparturient period. Thirty late-pregnant multiparous Holstein-Friesian dairy cows entering their second, third, or fourth lactation were assigned to either a dry cow ration with low (LP, 0.16% P in DM) or adequate P content (AP, 0.35% in DM) during the last 4 wk of the dry period (n = 15/group). Liver transcriptomics, which was carried out in a subset of 5 second-parity cows of each group (n = 5), and determination of selected hormones and metabolites in blood of all cows, was performed ∼1 wk before calving and on d 3 postpartum. Liver tissue specimens and blood samples were obtained by a micro-invasive biopsy technique from the right tenth intercostal space and puncture of a jugular vein, respectively. One hundred seventy-five hepatic transcripts were expressed differentially between LP versus AP cows in late pregnancy, and 165 transcripts differed between LP versus AP cows in early lactation (fold change >1.3 and
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- 2024
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32. Osteolytic mystery: A rare case of pathologic fracture from a phosphaturic mesenchymal tumor in hip and femur
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Murad Aldoghmi, Erwin Ho, Ryan O'Connell, MD, and Roozbeh Houshyar, MD
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Phosphaturic mesenchymal tumor ,Osteomalacia ,Multiple myeloma ,Neoplasm ,Connective tissue ,Hypophosphatemia ,Medical physics. Medical radiology. Nuclear medicine ,R895-920 - Abstract
Phosphaturic mesenchymal tumor (PMT) is a rare tumor causing bone complications and myopathy. Histologically, PMT displays a mix of spindled cells, osteoclast-like giant cells, basophilic matrix, and flocculent or “grungy” calcification. Here we describe a case of PMT in the right hip and proximal femur, initially suspected to be multiple myeloma, presenting with osteolytic lesions and elevated alkaline phosphatase. Tests for malignancy were negative, but a subsequent biopsy confirmed PMT. The patient underwent hip biopsy, femur resection, and hemiarthroplasty, with follow-up MRI recommended.
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- 2024
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33. Human Genetics of Ventricular Septal Defect
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Perrot, Andreas, Rickert-Sperling, Silke, Crusio, Wim E., Series Editor, Dong, Haidong, Series Editor, Radeke, Heinfried H., Series Editor, Rezaei, Nima, Series Editor, Steinlein, Ortrud, Series Editor, Xiao, Junjie, Series Editor, Rickert-Sperling, Silke, editor, Kelly, Robert G., editor, and Haas, Nikolaus, editor
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- 2024
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34. Burden of Disease and Functional Impairment in XLH (IdeFIX)
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Kyowa Kirin, Inc.
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- 2023
35. Characterising Pain, QoL, Body Composition, Arterial Stiffness, Muscles and Bones in Adult Persons With XLH and Healthy Controls
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- 2023
36. Effects of Treatments for Anemia and Iron Deficiency on the Electrolyte Balance in Lung Transplant Recipients: A Special Focus on Hypophosphatemia
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- 2023
37. Newborn Phosphocalcic Metabolism After Intravenous Iron Administration During Pregnancy
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Fanny Schumacher, resident doctor
- Published
- 2023
38. Retrospective and Prospective Disease Progression and Quality of Life in XLH
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- 2023
39. Foot Disorders in X-linked Hypophosphatemia
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Forian Wenzel-Schwarz, Orthopedic surgeon
- Published
- 2023
40. National Registry of Rare Kidney Diseases (RaDaR)
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- 2023
41. Challenging diagnosis of a rare disease: hypophosphatemic osteomalacia - case report and literature review.
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Nowak, Agnieszka, Partyka, Alicja, Pach, Magdalena, Dobrzańska, Justyna, Dziedzic, Mariola, Michalczewska, Aneta, Fugas, Agnieszka, Wierzejska, Natalia, Chmielowiec, Zuzanna, and Smykiewicz, Karolina
- Subjects
OSTEOMALACIA ,DIAGNOSIS ,RARE diseases ,MUSCLE weakness ,THERAPEUTIC complications - Abstract
Hypophosphatemic osteomalacia is a rare condition caused by different causes, all resulting in disturbances of calcium-phosphate management. One of the most common causes among adults is tumor-induced osteomalacia, which is characterized by increased secretion of fibroblast growth factor-23. Its symptoms are vague, tests necessary for diagnosis are not commonly used by clinicians and some of them are only available in highly specialized centers. Due to these reasons, patients often are misdiagnosed for more common conditions and are left without proper treatment for many years. We present a case of a patient suffering from multiple fractures, diffuse bone pain, and muscle weakness, who was previously misdiagnosed for osteoporosis, primary and secondary hyperparathyroidism. We discuss the pathophysiology of tumor-induced osteomalacia, diagnostic path, differential diagnosis, available forms of treatment and possible complications. [ABSTRACT FROM AUTHOR]
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- 2024
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42. Hypophosphatemic osteomalacia due to cadmium toxicity in silverware industry: A curious case of aches and pains
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Ayan Roy, Taurja Saha, Jayaprakash Sahoo, and Abanti Das
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cadmium ,heavy metal ,hypophosphatemia ,nephropathy ,osteomalacia ,Medicine - Abstract
Hypophosphatemic osteomalacia in an adult often gives clinical diagnostic challenges. Usually, they are caused by either tumor-induced osteomalacia or due to genetically mediated hypophosphatemia, particularly X-linked hypophosphatemia. However, heavy metal toxicity, leading to global proximal renal tubular dysfunction, is a rare cause, and in particular, cadmium toxicity is rarely encountered in clinical practice. The presence of bony pain and neurological deficit, along with a classical exposure history, provides the diagnostic clue. In this background, here we present a middle-aged man who had severe bony pains all over his body and lower back stiffness for five years. He underwent an initial workup as a suspected spondyloarthropathy but was later on, found to have hypophosphatemic osteomalacia and severe proximal renal tubular dysfunction. Further, the workup revealed elevated FGF-23. His occupational history revealed prolonged exposure to cadmium fumes in the silverware industry. He improved moderately with treatment; however, significant renal damage is still present. This case highlights the importance of considering cadmium toxicity in proper clinical and occupational contexts in the evaluation of hypophosphatemic osteomalacia in an adult.
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- 2024
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43. Nomogram for predicting early hypophosphatemia in term infants
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Wan Tao, Shina Zhan, Yingjie Shen, Tianjiao Zhao, Feitian Li, Miao Gao, Tingting Yang, and Jinqian Yu
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Hypophosphatemia ,Nomogram ,Male ,Birth weight ,Maternal diabetes ,Cesarean delivery ,Pediatrics ,RJ1-570 - Abstract
Abstract Background Physiological processes rely on phosphate, which is an essential component of adenosine triphosphate (ATP). Hypophosphatasia can affect nearly every organ system in the body. It is crucial to monitor newborns with risk factors for hypophosphatemia and provide them with the proper supplements. We aimed to evaluate the risk factors and develop a nomogram for early hypophosphatemia in term infants. Methods We conducted a retrospective study involving 416 term infants measured serum phosphorus within three days of birth. The study included 82 term infants with hypophosphatemia (HP group) and 334 term infants without hypophosphatemia (NHP group). We collected data on the characteristics of mothers, newborn babies, and childbirth. Furthermore, univariate and multivariate logistic regression analyses were performed to identify independent risk factors for hypophosphatemia in term infants, and a nomogram was developed and validated based on the final independent risk factors. Results According to our analysis, the multivariate logistic regression analysis showed that male, maternal diabetes, cesarean delivery, lower serum magnesium, and lower birth weight were independent risk factors for early hypophosphatemia in term infants. In addition, the C-index of the developed nomogram was 0.732 (95% CI = 0.668–0.796). Moreover, the calibration curve indicated good consistency between the hypophosphatemia diagnosis and the predicted probability, and a decision curve analysis (DCA) confirmed the clinical utility of the nomogram. Conclusions The analysis revealed that we successfully developed and validated a nomogram for predicting early hypophosphatemia in term infants.
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- 2024
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44. 18F-AlF-NOTA-octreotide PET/ CT in the localization of tumor-induced osteomalacia: case series and literature review.
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Jing Li
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LITERATURE reviews ,POSITRON emission tomography computed tomography ,POSITRON emission tomography ,OSTEOMALACIA ,COMPUTED tomography ,SYMPTOMS ,NOMOGRAPHY (Mathematics) - Abstract
Introduction: This study explores tumor-induced osteomalacia (TIO) through a case series and literature review, assessing the diagnostic potential of
18 F-AlFNOTA-octreotide (18 F-OC) positron emission tomography/computed tomography (PET/CT). Methods: We analyzed TIO patients who underwent18 F-OC PET/CT. Parameters such as tumor dimension, the maximum standardized uptake value (SUVmax), the mean standardized uptake value (SUVmean) and metabolic tumor volume (MTV) were meticulously assessed. Clinical features and imaging characteristics pertinent to TIO were reviewed. Results: 6 patients with clinical suspicion of TIO exhibited hypophosphatemia (0.25 to 0.64 mmol/L), elevated alkaline phosphatase (ALP) levels (142 to 506 U/ L), and increased parathyroid hormone (PTH) levels (92.9 to 281.7 pg/mL). Of these patients, two underwent FGF-23 testing, with results of 3185.00 pg/ml and 17.56 pg/ml, respectively. Conventional imaging modalities depicted widespread osteoporosis, with several cases demonstrating fractures indicative of osteomalacic and associated pathological fractures. Subsequent18 F-OC PET/ CT facilitated the accurate localization of causative tumors, with histopathological examination confirming the diagnosis of phosphaturic mesenchymal tumor (PMT). The interval from initial clinical presentation to definitive TIO diagnosis spanned approximately 2.5 years (range: 1 - 4 years), with tumors varying in size (maximum diameter: 7.8 to 40.0 mm), SUVmax (5.47 to 25.69), SUVmean (3.43 to 7.26), and MTV (1.27 to 18.59 cm³). Conclusion: The implementation of whole-body18 F-OC PET/CT imaging emerges as a critical tool in the identification of occult tumors causing TIO. Future investigations incorporating a broader cohort are imperative to further delineate the diagnostic and therapeutic implications of18 F-OC PET/CT in managing TIO. [ABSTRACT FROM AUTHOR]- Published
- 2024
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45. Tumor-Induced Osteomalacia due to Sarcomatoid Non–Small Cell Lung Carcinoma Confounded by Drug-Induced Fanconi Syndrome.
- Author
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AlHamer, Bassam, Singh, Ajit, Patrascu, Carmen, and Mukaddam, Mona Al
- Subjects
- *
FANCONI syndrome , *HYPOPHOSPHATEMIA , *RIB fractures , *OSTEOMALACIA , *LUNGS , *DRUG side effects , *SPONTANEOUS fractures - Abstract
Tumor-induced osteomalacia (TIO) is an exceedingly rare paraneoplastic condition characterized by hypophosphatemia, osteomalacia, fragility fractures, and fatigue. A 39-year-old man was assessed for hemoptysis, pathological rib fractures, and fatigue, and was found to have a chest mass with lung metastasis. Biopsy of the mass suggested high-grade epithelioid and spindle cell neoplasm. He was initially treated for soft tissue sarcoma with an ifosfamide-based regimen and developed Fanconi syndrome that resolved on cessation of ifosfamide. Serum phosphate remained low. A low tubular maximum reabsorption of phosphate to glomerular filtration rate ratio (TmP/GFR) indicated disproportionate phosphaturia, while a severely elevated fibroblast growth factor-23 (FGF23) level enabled a diagnosis of TIO. He was started on phosphate and calcitriol supplementation. Subsequent next-generation sequencing demonstrated a RET -fusion mutation, leading to reclassification of his malignancy to a sarcomatoid non–small cell lung carcinoma. He was switched to selpercatinib, a targeted RET -kinase inhibitor approved for locally advanced or metastatic RET -fusion–positive solid tumors. This induced tumor remission with subsequent normalization of his FGF23 levels and hypophosphatemia. Despite the presence of a confounding etiology like drug-induced Fanconi syndrome, persistence of hypophosphatemia should prompt a workup of TIO, especially in the presence of a tumor. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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46. Hypophosphatemic osteomalacia due to cadmium toxicity in silverware industry: A curious case of aches and pains.
- Author
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Roy, Ayan, Saha, Taurja, Sahoo, Jayaprakash, and Das, Abanti
- Subjects
- *
HEAVY metal toxicology , *HEAVY metals , *KIDNEY diseases , *HYPOPHOSPHATEMIA , *CADMIUM , *RENAL tubular transport disorders , *OSTEOMALACIA - Abstract
Hypophosphatemic osteomalacia in an adult often gives clinical diagnostic challenges. Usually, they are caused by either tumor‑induced osteomalacia or due to genetically mediated hypophosphatemia, particularly X‑linked hypophosphatemia. However, heavy metal toxicity, leading to global proximal renal tubular dysfunction, is a rare cause, and in particular, cadmium toxicity is rarely encountered in clinical practice. The presence of bony pain and neurological deficit, along with a classical exposure history, provides the diagnostic clue. In this background, here we present a middle‑aged man who had severe bony pains all over his body and lower back stiffness for five years. He underwent an initial workup as a suspected spondyloarthropathy but was later on, found to have hypophosphatemic osteomalacia and severe proximal renal tubular dysfunction. Further, the workup revealed elevated FGF‑23. His occupational history revealed prolonged exposure to cadmium fumes in the silverware industry. He improved moderately with treatment; however, significant renal damage is still present. This case highlights the importance of considering cadmium toxicity in proper clinical and occupational contexts in the evaluation of hypophosphatemic osteomalacia in an adult. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
47. A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene.
- Author
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Fraga, Gloria, Herreros, M. Alba, Pybus, Marc, Aza-Carmona, Miriam, Pilco-Teran, Melissa, Furlano, Mónica, García-Borau, M. José, Torra, Roser, and Ars, Elisabet
- Subjects
- *
GENETIC variation , *HYPOPHOSPHATEMIA , *GENETIC testing , *GENETIC engineering , *SYMPTOMS , *POLYCYSTIC kidney disease - Abstract
X-linked hypophosphatemia (XLH) is a rare inherited disorder of renal phosphate wasting with a highly variable phenotype caused by loss-of-function variants in the PHEX gene. The diagnosis of individuals with mild phenotypes can be challenging and often delayed. Here, we describe a three-generation family with a very mild clinical presentation of XLH. The diagnosis was unexpectedly found in a 39-year-old woman who was referred for genetic testing due to an unclear childhood diagnosis of a tubulopathy. Genetic testing performed by next-generation sequencing using a kidney disease gene panel identified a novel non-canonical splice site variant in the PHEX gene. Segregation analysis detected that the consultand's father, who presented with hypophosphatemia and decreased tubular phosphate reabsorption, and the consultand's son also carried this variant. RNA studies demonstrated that the non-canonical splice site variant partially altered the splicing of the PHEX gene, as both wild-type and aberrant splicing transcripts were detected in the two male members with only one copy of the PHEX gene. In conclusion, this case contributes to the understanding of the relationship between splicing variants and the variable expressivity of XLH disease. The mild phenotype of this family can be explained by the coexistence of PHEX transcripts with aberrant and wild-type splicing. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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48. Le syndrome de renutrition inappropriée.
- Author
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Achamrah, Najate
- Abstract
Refeeding Syndrome (RS) is poorly understood and remains under-diagnosed, -despite its clinical consequences and the risk of death. It is defined by the clinical and biological manifestations that occur during the refeeding of patients after prolonged fasting or in the context of undernutrition. It results from the abrupt shift from catabolism to anabolism. The intracellular displacement of electrolytes (phosphorus, magnesium, potassium) in response to insulin secretion after -refeeding, and thiamine (vitamin B1) deficiency, play a major role in the pathophysiology of RS. Clinical symptoms are associated with hydroelectrolyte disorders, -hydrosaline retention, and/or organ failure. Patient management should be immediate with regular clinical examinations and close biological monitoring, including electrolytes monitoring. Correction of hydroelectrolyte disorders and systematic thiamine supplementation are essential during refeeding. Whether oral, enteral, or parenteral, refeeding should be cautious and very progressively. Identifying patients at risk of RS and preventive measures are crucial. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
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49. Incidence and Prevalence of Fibrous Dysplasia/McCune-Albright Syndrome: A Nationwide Registry-Based Study in Denmark.
- Author
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Meier, Maartje E, Vágó, Emese, Abrahamsen, Bo, Dekkers, Olaf M, Horváth-Puhó, Erzsébet, Rejnmark, Lars, and Appelman-Dijkstra, Natasha M
- Subjects
METABOLIC disorders ,GENETIC disorders ,HYPOPHOSPHATEMIA ,DYSPLASIA ,SYNDROMES ,MEDICAL registries - Abstract
Context Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare genetic disorder. Incidence and prevalence are not well-studied. Epidemiological research is complicated by the rarity of FD/MAS, absence of registries, heterogeneous presentation, and possibly asymptomatic phenotype. FD/MAS may present with FGF23-mediated hypophosphatemia, of which the epidemiology is also unclear. Objective Evaluate incidence and prevalence of FD/MAS and FD/MAS-related hypophosphatemia. Methods This cohort study based on the nationwide Danish National Patient Registry from 1995-2018, included patients identified by ICD-10 codes M85.0 (monostotic FD [MFD]) and Q78.1 (polyostotic FD [PFD]/MAS). Incidence rates and prevalence were calculated and stratified by sex, age, calendar period, and diagnosis code. Cases were screened for FD-associated hypophosphatemia by diagnosis code E.83 (disorder of mineral metabolism) and dispatched vitamin D analogues. Results A total of 408 patients were identified, 269 with MFD (66%), 139 with PFD/MAS (34%), comparable between sexes. Incidence of FD/MAS demonstrated increasing secular trend with a rate of 3.6 per 1 000 000 person-years (95% CI: 2.9, 4.5) in 2015-2018. Incidence peaked between age 11 and 20. Prevalence of FD/MAS increased over time to 61.0 (95% CI: 54.6, 67.4) per 1 000 000 persons in 2018. The incidence rate of MFD was 1.5-fold that of PFD/MAS in the first decade, rising to 2.5-fold in the last decade. No FD/MAS cases were registered with diagnosis code or treatment for hypophosphatemia. Conclusion FD/MAS is rare, diagnosis peaks during adolescence without sex predominance, and MFD is most prevalent. Hypophosphatemia may be underdiagnosed and undertreated, or it may be underregistered, comparing this study to literature. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
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50. Cardiovascular health in pediatric patients with X-linked hypophosphatemia under two years of burosumab therapy.
- Author
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Brener, Avivit, Cleper, Roxana, Baruch, Guy, Rothschild, Ehud, Yackobovitch-Gavan, Michal, Beer, Gil, Zeitlin, Leonid, and Kapusta, Livia
- Subjects
CHILD patients ,HYPOPHOSPHATEMIA ,FIBROBLAST growth factors ,CARDIOVASCULAR diseases risk factors ,MANUFACTURING defects ,BLOOD pressure - Abstract
Introduction: X-linked hypophosphatemia (XLH) is caused by an inactivating mutation in the phosphate-regulating endopeptidase X-linked (PHEX) gene whose defective product fails to control phosphatonin fibroblast growth factor 23 (FGF23) serum levels. Although elevated FGF23 levels have been linked with detrimental cardiac effects, the cardiologic outcomes in XLH patients have been subject to debate. Our study aimed to evaluate the prevalence and severity of cardiovascular morbidity in pediatric XLH patients before, during, and after a 2- year treatment period with burosumab, a recombinant anti-FGF23 antibody Methods: This prospective observational study was conducted in a tertiary medical center, and included 13 individuals with XLH (age range 0.6--16.2 years) who received burosumab every 2 weeks. Clinical assessment at treatment initiation and after .5, 1, and 2 years of uninterrupted treatment included anthropometric measurements and cardiologic evaluations (blood pressure [BP], electrocardiogram, conventional echocardiography, and myocardial strain imaging). Results: The linear growth of all patients improved significantly (mean height zscore: from -1.70 ± 0.80 to -0.96 ± 1.08, P=0.03). Other favorable effects were decline in overweight/obesity rates (from 46.2% to 23.1%) and decreased rates of elevated BP (systolic BP from 38.5% to 15.4%; diastolic BP from 38.5% to 23.1%). Electrocardiograms revealed no significant abnormality throughout the study period. Cardiac dimensions and myocardial strain parameters were within the normative range for age at baseline and remained unchanged during the study period. Conclusion: Cardiologic evaluations provided reassurance that 2 years of burosumab therapy did not cause cardiac morbidity. The beneficial effect of this treatment was a reduction in cardiovascular risk factors, as evidenced by the lower prevalence of both overweight/obesity and elevated BP. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
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