3′ Untranslated Region Structural Elements in CYP24A1 Are Associated With Infantile Hypercalcemia Type 1
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DOI: 10.1002/jbmr.4769
Abstract: Loss‐of‐function mutations in the CYP24A1 protein‐coding region causing reduced 25 hydroxyvitamin D (25OHD) and 1,25 dihydroxyvitamin D (1,25(OH)2D) catabolism have been observed in some cases of infantile hypercalcemia type 1 (HCINF1), which can manifest as… read more here.
Keywords: untranslated region; hypercalcemia; infantile hypercalcemia; structural elements ... See more keywords
Particle disease: a unique cause of hypercalcemia
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DOI: 10.1007/s00198-020-05621-8
Abstract: Hypercalcemia as a result of ectopic 1, 25-dihydroxyvitamin D (1,25-(OH)2 D) production has been well-described in sarcoidosis and other granulomatous diseases. The 1-alpha-hydroxylase enzyme in activated macrophages is not subject to physiologic regulations, resulting in… read more here.
Keywords: hypercalcemia; cause hypercalcemia; particle disease; production ... See more keywords
A toddler with severe hypercalcemia and pyelonephritis: Questions
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Nephrology"
DOI: 10.1007/s00467-020-04710-4
Abstract: A 3-year-old female was admitted for evaluation and management of severe hypercalcemia in the setting of pan-sensitive Escherichia coli pyelonephritis. Past medical and surgical history were negative except for chronic constipation. There was no significant… read more here.
Keywords: reference interval; severe hypercalcemia; hypercalcemia; level ... See more keywords
PTH-Independent Paraneoplastic Hypercalcemia in a Child with Nonmetastatic Renal Ewing Sarcoma
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DOI: 10.1007/s12098-022-04194-0
Abstract: To the Editor: Malignancy-associated hypercalcemia (MAH) in children is rare and often an uneasy surprise [1]. In this communique, we report a case of MAH in a child with nonmetastatic Ewing sarcoma of the kidney.… read more here.
Keywords: sarcoma; child; ewing sarcoma; tumor ... See more keywords
Endocrine Disorders with Parathyroid Hormone-Independent Hypercalcemia.
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DOI: 10.1016/j.ecl.2021.07.002
Abstract: The most common causes of hypercalcemia are primary hyperparathyroidism and malignancy, constituting 80% to 90% of all cases. Although less common, several nonparathyroid endocrine disorders are associated with hypercalcemia. The most well described is hyperthyroidism,… read more here.
Keywords: hormone independent; disorders parathyroid; endocrine disorders; hypercalcemia ... See more keywords
Primary Hyperparathyroidism Associated With Atypical Headshaking Behavior in a Warmblood Gelding.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of equine veterinary science"
DOI: 10.1016/j.jevs.2019.102840
Abstract: A 14-year-old Zweibrücker Warmblood gelding was presented for evaluation of lethargy and headshaking. The horse had a history of bouts of lameness in different limbs and back problems. It also had many mild colic episodes… read more here.
Keywords: hyperparathyroidism associated; primary hyperparathyroidism; hyperparathyroidism; hypercalcemia ... See more keywords
Primary hyperparathyroidism presenting as a brown tumor with hypercalcemia crisis in a second-trimester pregnant woman
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DOI: 10.1097/md.0000000000025968
Abstract: Abstract Introduction: Primary hyperparathyroidism (PHPT) in pregnancy is rare and unrecognized because the maternal physiological adaptations blurs the symptoms. There is no standard treatment strategy for maternal PHPT. Early diagnosis and interventions can prevent catastrophic… read more here.
Keywords: patient; woman; primary hyperparathyroidism; calcium ... See more keywords
Hypercalcemia worsened after vitamin D supplementation in a sarcoidosis patient: A case report
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DOI: 10.1097/md.0000000000030883
Abstract: Rationale: There are many causes of hypercalcemia, with hyperparathyroidism and malignancy accounting for 90% of cases. Sarcoidosis and the intake of vitamin D supplements may also cause hypercalcemia, although the occurrence rate is low if… read more here.
Keywords: sarcoidosis; supplementation sarcoidosis; hypercalcemia; vit ... See more keywords
Hypercalcemia and Disseminated Osteolytic Lesions With Normal Blood Counts and Absence of Circulating Blasts: A Rare Presentation of Childhood B-Lymphoblastic Leukemia.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001822
Abstract: Hypercalcemia and disseminated osteolytic bone lesions are a rare presentation of pediatric acute lymphoblastic leukemia (ALL). The authors report a 3-year-old boy who presented with hypercalcemia and diffuse osteolytic lesions involving axial and appendicular bones.… read more here.
Keywords: hypercalcemia disseminated; blood; osteolytic lesions; rare presentation ... See more keywords
Persistence and Recurrence of Hypercalcemia after Parathyroidectomy Over Five Decades (1965-2010) in a Community-based Cohort.
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DOI: 10.1097/sla.0000000000005688
Abstract: BACKGROUND There is limited long term follow up of patients undergoing parathyroidectomy. Recurrence is described as 4-10%. This study evaluated persistence and recurrence of hypercalcemia in primary hyperparathyroidism (PHPT) after parathyroidectomy. METHODS Single-institution retrospective (1965-2010)… read more here.
Keywords: persistence; hypercalcemia; recurrence; post operative ... See more keywords
Reduced affinity of calcium sensing-receptor heterodimers and reduced mutant homodimer trafficking combine to impair function in a model of familial hypocalciuric hypercalcemia type 1
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DOI: 10.1101/2022.04.11.487493
Abstract: Heterozygous loss-of-function mutation of the calcium sensing-receptor (CaSR), causes familial hypocalciuric hypercalcemia type 1 (FHH1), a typically benign condition characterized by mild hypercalcemia. In contrast, homozygous mutation of this dimer-forming G-protein coupled receptor manifests as… read more here.
Keywords: calcium; function; hypercalcemia; type ... See more keywords