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https://www.readbyqxmd.com/read/28530318/-severe-infantile-hypophosphatasia
#1
Evgenia Gurevich, Daniel Landau
Hypophosphatasia is the inborn error of metabolism that is characterized by low serum alkaline-phosphatase activity, due to loss-of-function mutations within the gene for tissuenonspecific isoenzyme of alkaline phosphatase [TNSALP]. The manifestations of hypophosphatasia range from neonatal death with almost no skeletal mineralization to dental problems in adults without any bone symptoms. There are no case reports of infantile hypophosphatasia in Israel. The existence of enzymatic replacement treatment for this disease makes it important to diagnose this problem as soon as possible...
January 2017: Harefuah
https://www.readbyqxmd.com/read/28516132/life-threatening-hypercalcemia-during-prodrome-of-pneumocystis-jiroveci-pneumonia-in-an-immunocompetent-infant
#2
Judith Sebestyen VanSickle, Tarak Srivastava, Uri S Alon
Severe hypercalcemia in infants is usually attributed to genetic etiologies and less commonly to acquired ones. An 8-week-old girl presented with failure to thrive, mild respiratory distress, and life-threatening hypercalcemia (23.5 mg/dL). Serum 1,25(OH)2-vitamin D (1,25(OH)2-D) level was elevated and parathyroid hormone undetectable. Evaluation for genetic mutations and malignant etiologies of hypercalcemia was negative. Treatment with intravenous hydration, loop diuretic, and calcitonin failed to correct the hypercalcemia, which was subsequently controlled with bisphosphonate therapy...
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28512409/immunoglobulin-d-multiple-myeloma-presenting-as-spontaneous-fracture
#3
Samer Al Hadidi, Khalil Katato, Ghassan Bachuwa
Immunoglobulin D multiple myeloma is a rare type of multiple myeloma that usually presents as bone pain, fatigue, or weight loss. We report a case of immunoglobulin D multiple myeloma in a 53-year-old Caucasian male patient with previous medical history of anaplastic oligodendroglioma status post-surgical resection who was evaluated for back pain while mowing the lawn. His physical examination showed tenderness over the lower thoracic vertebrae with no sensory or motor impairment. Initial lab investigations showed normocytic anemia and hypercalcemia with low parathyroid hormone...
January 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28509133/denosumab-for-treatment-of-immobilization-related-hypercalcemia-in-a-patient-with-end-stage-renal-disease
#4
Atsuko Uehara, Masahiko Yazawa, Atsumi Kawata, Rina Hachisuka, Yugo Shibagaki
The efficacy and safety of denosumab for the treatment of immobilization-related hypercalcemia in end-stage renal disease remain uncertain. We describe the case of a hemodialysis patient with immobilization-related hypercalcemia who was successfully treated with denosumab. A 79-year-old man admitted for hemodialysis after sustaining an acute kidney injury developed immobilization-related hypercalcemia due to the impairment resulting from an acute myocardial infarction, acute heart failure, and catheter-related bloodstream infection...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28508984/successful-treatment-of-myeloma-cast-nephropathy-using-bortezomib-based-chemotherapy-plus-selective-plasma-exchange
#5
Mayuko Kawabe, Izumi Yamamoto, Ai Katsuma, Naomi Hayashi, Yo Komatsuzaki, Yasuyuki Nakada, Akihiro Shimizu, Yudo Tanno, Ichiro Ohkido, Nobuo Tsuboi, Kazuhito Suzuki, Takaki Shimada, Yoji Ogasawara, Katsuki Sugiyama, Keisuke Aiba, Takashi Yokoo
Myeloma cast nephropathy is a major complication of multiple myeloma. Recent evidence has demonstrated that the earlier induction of bortezomib-based chemotherapy with plasma exchange (PE) provides better results for kidney function and patient survival. Due to its non-selectivity, PE with albumin replacement carries the risk of fibrinogen loss, leading to bleeding. We herein report a case of successful treatment of myeloma cast nephropathy using bortezomib-based chemotherapy and selective PE. A 61-year-old woman who had a 20-year history of type II diabetes mellitus was admitted to our hospital for the evaluation of hypercalcemia, severe kidney dysfunction, and anemia...
November 2016: CEN Case Reports
https://www.readbyqxmd.com/read/28508965/cinacalcet-in-hyperparathyroidism-management-after-pediatric-renal-transplantation
#6
Olivier Niel, Anne Maisin, Marie-Alice Macher, Michel Peuchmaur, Georges Deschênes
Secondary hyperparathyroidism is often associated with end stage renal disease; even after renal transplantation, hyperparathyroidism may persist, and is responsible for hypercalcemia, hypophosphatemia and elevated parathyroid hormone (iPTH) levels. Parathyroid hyperplasia is frequently associated with persistent hyperparathyroidism, and may require a surgical treatment. Here, we report hyperparathyroidism along with parathyroid hyperplasia in a 7-year-old child, which persisted after renal transplant. Calcitonin and pamidronate failed to decrease serum calcium levels; clodronate was also inefficient...
November 2016: CEN Case Reports
https://www.readbyqxmd.com/read/28502336/silicone-injection-related-granulomatous-hypercalcemia
#7
Michael L Granda, Liwei E Huang
Cosmetic filler injections are known to cause a number of acute and chronic effects, including local inflammation, nodule formation and granulomatous reaction. The timeline of these events is highly variable, occurring from hours to decades following injection. In few cases, systemic effects have been observed. We report a case of granulomatous disease secondary to illicit silicone injection causing recalcitrant hypercalcemia. Additionally, we review the pathophysiology of inflammation in cosmetic filler injections, the prevailing understanding of hypercalcemia in granulomatous disease and summarize the most effective treatment modalities for this rare condition...
May 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28488045/-musculoskeletal-manifestations-of-sarcoidosis
#8
REVIEW
P Korsten, G Chehab
Musculoskeletal manifestations in the context of sarcoidosis are frequently observed. The rheumatologist regularly encounters this disease in clinical practice. In the present review, we aim to give a current overview of the manifestations and treatments relevant to the practicing rheumatologist. The most frequently encountered manifestation is Lofgren's syndrome, which is characterized by bilateral ankle periarthritis, bilateral hilar lymphadenopathy, and erythema nodosum and has an excellent prognosis. Chronic arthropathy most commonly manifests as oligoarthritis, which sometimes hampers its differentiation from spondylarthropathies, especially when sacroiliitis, enthesitis or dactylitis are simultaneously present...
May 9, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28487781/hypocalciuric-hypercalcemia-due-to-impaired-renal-tubular-calcium-excretion-in-a-type-2-diabetic-patient
#9
Sihao Yang, Yan Ren, Xi Li, Haoming Tian, Zhenmei An, Tao Chen
The case we presented here was a 73-year-old gentleman, who was admitted to endocrinology department due to recurrent fatigue for 1 year. He had medical histories of type 2 diabetes for 18 years and developed CKD 4 years ago. He also suffered from dilated cardiomyopathy, and coronary heart disease, moderate sleep apnea syndrome, primary hypothyroidism, and gout. His treatment regimen was complicated which included Caltrate D and compound α-keto acid (1200 mg calcium/d). Laboratory examination revealed that his serum calcium level elevated, 24-hour urine calcium output decreased, PTH level was suppressed, and 25-hydroxyvitamin D was in normal low range...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28484656/gastrointestinal-stromal-tumor-induced-hypercalcemia
#10
Aram Barbaryan, Stefania Bailuc, Padma Poddutoori, Aida Richardson, Aibek E Mirrakhimov
Hypercalcemia in patients with cancer is a common laboratory finding affecting up to 44% of that patient population. 1,25-Dihydroxyvitamin D3 mediated hypercalcemia is one of the rare mechanisms of this endocrine emergency in cancer patients. It is even rarer for solid organ neoplasms to present with hypercalcemia mediated through the production of 1,25-dihydroxyvitamin D3. We report a case of a 77-year-old female who presented to the hospital with hypercalcemia and later was found to have metastatic gastrointestinal stromal tumor...
2017: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/28470390/biallelic-mutations-in-cyp24a1-or-slc34a1-as-a-cause-of-infantile-idiopathic-hypercalcemia-iih-with-vitamin-d-hypersensitivity-molecular-study-of-11-historical-iih-cases
#11
Ewa Pronicka, Elżbieta Ciara, Paulina Halat, Agnieszka Janiec, Marek Wójcik, Elżbieta Rowińska, Dariusz Rokicki, Paweł Płudowski, Ewa Wojciechowska, Aldona Wierzbicka, Janusz B Książyk, Agnieszka Jacoszek, Martin Konrad, Karl P Schlingmann, Mieczysław Litwin
Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned out to be a side effect of rickets over-prophylaxis. It was recently discovered that the condition is linked to two genes, CYP24A1 and SLC34A1. The aim of the study was to search for pathogenic variants of the genes in adult persons who were shortlisted in infancy as IIH caused by "hypersensitivity to vit...
May 3, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28457369/safety-and-efficacy-of-citrate-anticoagulation-for-continuous-renal-replacement-therapy-for-acute-kidney-injury-after-liver-transplantation-a-single-center-experience
#12
N Pertica, L Cicciarella, A Carraro, U Montin, P Violi, A Lupo, G Zaza
BACKGROUND: Acute kidney injury (AKI) after liver transplantation (LT) is a frequent and serious complication. The incidence of AKI requiring continuous renal replacement therapy (CRRT) ranges from 10% to 30%. Kidney Disease: Improving Global Outcomes guidelines indicate the use of citrate as a locoregional anticoagulant drug for CRRT regardless of the patient's hemorrhagic risk. Despite this indication, however, the use of citrate is still under debate in patients with liver failure and/or LT owing to the potential risk of plasmatic citrate accumulation due to reduced liver clearance...
May 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28451002/-costal-metastasis-revealing-esophageal-squamous-cell-carcinoma
#13
Mamadou Ngoné Gueye, Gnagna Diouf, Daouda Dia, Awa Boye, Thierno Fall, Jean Louis Diémé, Oumar Ba, Mouhamadou Mbengue
Esophageal cancer is associated with poor prognosis. Its severity is linked to delayed diagnosis which is most often made once a cancer has metastasized, in Africa. Costal metastases are rare. We report a case of a 38-year old Senegalese patient with squamous cell carcinoma of the lower esophagus with lytic metastases to the ribs. Mrs. TD, aged 38, was admitted with painful swelling in right hemithorax associated with weight loss. The patient also reported mechanical dysphagia evolving during 4 months which had not motivated consultation...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28448545/vitamin-d3-induced-hypercalcemia-increases-carbon-tetrachloride-induced-hepatotoxicity-through-elevated-oxidative-stress-in-mice
#14
Hiroki Yoshioka, Haruki Usuda, Nobuhiko Miura, Nobuyuki Fukuishi, Tsunemasa Nonogaki, Satomi Onosaka
The aim of this study was to determine whether calcium potentiates acute carbon tetrachloride (CCl4) -induced toxicity. Elevated calcium levels were induced in mice by pre-treatment with cholecalciferol (vitamin D3; V.D3), a compound that has previously been shown to induce hypercalcemia in human and animal models. As seen previously, mice injected with CCl4 exhibited increased plasma levels of alanine aminotransferase, aspartate aminotransferase, and creatinine; transient body weight loss; and increased lipid peroxidation along with decreased total antioxidant power, glutathione, ATP, and NADPH...
2017: PloS One
https://www.readbyqxmd.com/read/28443817/childhood-sustained-hypercalcemia-a-diagnostic-challenge
#15
Nisa Eda Çullas İlarslan, Zeynep Şıklar, Merih Berberoğlu
OBJECTIVE: This study aimed to call attention to hypercalcemia, a rare finding in children, which carries the potential of leading serious complications without proper intervention. METHODS: Diagnosis, treatment and clinical course of children with sustained hypercalcemia between 2006-2016 were reviewed. Group 1 (PTH-dependent) consisted of patients with high/unsupressed PTH level and Group 2 (PTH-independent) included cases with normal/supressed PTH level. RESULTS: Twenty patients (11 male, 9 female) with a median age of 6,25 (0,03-17,88) years were evaluated...
April 26, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28435742/immobilisation-induced-hypercalcemia-following-spinal-cord-injury-affecting-the-kidney-function-in-two-young-native-greenlanders
#16
Michael V Linstow, Fin Biering-Sørensen
INTRODUCTION: Immobilisation-induced hypercalcemia following SCI affecting the kidney function, is a rare but potentially serious condition. We report immobilisation-induced hypercalcemia affecting the kidney function in two young native Greenlanders with spinal cord injury (SCI). CASE PRESENTATIONS: Two 15- and 24-year-old male native Greenlanders, both with traumatic C5 SCI were admitted to our spinal cord unit. They were non-smokers without history of daily alcohol intake pre- or immediately post-injury...
2017: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/28433267/dose-response-effects-of-supplementation-with-calcifediol-on-serum-25-hydroxyvitamin-d-status-and-its-metabolites-a-randomized-controlled-trial-in-older-adults
#17
Anouk M M Vaes, Michael Tieland, Margot F de Regt, Jonas Wittwer, Luc J C van Loon, Lisette C P G M de Groot
BACKGROUND & AIMS: Oral supplementation with vitamin D is recommended for older adults to maintain a sufficient 25-hydroxyvitamin D (25(OH)D) status throughout the year. While supplementation with vitamin D2 or D3 is most common, alternative treatment regimens exist which require further investigation with respect to increasing 25(OH)D concentration. We investigated the dose-response effects of supplementation with calcifediol compared to vitamin D3 and assessed the dose which results in mean serum 25(OH)D3 concentrations between 75 and 100 nmol/L...
March 31, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28427853/treatment-of-critical-hypercalcemia-using-pamidronate-in-acute-megakaryoblastic-leukemia-in-an-18-month-old-girl
#18
Tsung-Yen Chang, Tang-Her Jaing, Shih-Hsiang Chen
No abstract text is available yet for this article.
March 18, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28412561/metastatic-human-breast-cancer-to-the-spine-produces-mechanical-hyperalgesia-and-gait-deficits-in-rodents
#19
Rachel Sarabia-Estrada, Alejandro Ruiz-Valls, Hugo Guerrero-Cazares, Ana M Ampuero, Ismael Jimenez-Estrada, Samantha De Silva, Lydia J Bernhardt, C Rory Goodwin, A Karim Ahmed, Yuxin Li, Neil A Phillips, Ziya L Gokaslan, Alfredo Quiñones-Hinojosa, Daniel M Sciubba
BACKGROUND CONTEXT: Metastases to the spine are a common source of severe pain in cancer patients. The secondary effects of spinal metastases include pain, bone fractures, hypercalcemia, and neurological deficits. As the disease progresses, pain severity can increase until it becomes refractory to medical treatments and leads to a decreased quality of life for patients. A key obstacle in the study of pain-induced spinal cancer is the lack of reliable and reproducible spine cancer animal models...
April 13, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28404687/selective-calcium-dependent-inhibition-of-atp-gated-p2x3-receptors-by-bisphosphonates-induced-endogenous-atp-analogue-apppi
#20
Yevheniia Ishchenko, Anastasia Shakirzyanova, Raisa Giniatullina, Andrei Skorinkin, Geneviev Bart, Petri Turhanen, Jorma Maatta, Jukka Monkkonen, Rashid Giniatullin
Pain is the most unbearable symptom accompanying primary bone cancers and bone metastases. Bone resorptive disorders are often associated with hypercalcemia contributing to the pathological process. Nitrogen-containing bisphosphonates (NBP) are efficiently used to treat bone-cancers and metastases. NBP, apart from their toxic effect on cancer cells, also provide analgesia via poorly understood mechanisms. We have previously shown, that NBP, by inhibiting the mevalonate pathway, induced the formation of the novel ATP-analogues such as ApppI which can potentially be involved in NBP analgesia...
April 12, 2017: Journal of Pharmacology and Experimental Therapeutics
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