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Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels.
Bianchi, F, Simoncini, C, Brugnoni, R, Ricci, G, Siciliano, G
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. 2020;(1):36-39
Abstract
Mutations of the main voltage-gated K channel members Kv1.1 are linked to several clinical conditions, such as periodic ataxia type 1, myokymia and seizure disorders. Due to their role in active magnesium reabsorption through the renal distal convoluted tubule segment, mutations in the KCNA1 gene encoding for Kv1.1 has been associated with hypomagnesemia with myokymia and tetanic crises. Here we describe a case of a young female patient who came to our attention for a history of muscular spasms, tetanic episodes and muscle weakness, initially misdiagnosed for fibromyalgia. After a genetic screening she was found to be carrier of the c.736A > G (p.Asn255Asp) mutation in KCNA1, previously described in a family with autosomal dominant hypomagnesemia with muscular spasms, myokymia and tetanic episodes. However, our patient has always presented normal serum and urinary magnesium values, whereas she was affected by hypocalcemia. Calcium supplementation gave only partial clinical benefit, with an improvement on tetanic episodes yet without a clinical remission of her spasms, whereas magnesium supplementation worsened her muscular symptomatology.
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Coronary artery disease with normal lipids and low coronary artery calcium in two women with high lipoprotein(a).
Haxhi, J, Pershwitz, G, Thompson, PD
Journal of clinical lipidology. 2020;(2):186-188
Abstract
We present 2 patients with elevated levels of lipoprotein (a) and significant coronary artery disease despite having little coronary artery calcification. Clinicians should be aware that patients with elevated lipoprotein (a) may have important coronary artery disease with low coronary artery calcification scores.
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Refractory Hypercalcemia in Squamous Cell Carcinoma of the Esophagus-a Case Report and Review of Literature.
Arif, H, Beg, M, Zahid, S, Sial, M, Talwar, A, Christou, A, Babich, M
Journal of gastrointestinal cancer. 2019;(4):939-942
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4.
Hypocalcaemia-induced tetany secondary to total thyroidectomy: a nursing case review.
Bakon, S, Craft, J, Christensen, M
Nursing in critical care. 2019;(6):349-354
Abstract
Presentations to the emergency department with a diagnosis of hypocalcaemia-induced tetany secondary to total thyroidectomy are rare. A patient presented to the emergency department of a regional Australian hospital with hypocalcaemia-induced tetany. A case study was employed to reflect on the care provided and identify knowledge practice deficits within this unusual patient presentation. Calcium plays a central role within the nervous system and is vital for both cardiac and muscular contraction. The clinical manifestations of electrolyte disturbances such as hypocalcaemia can be life threatening, and therefore, appropriate assessment, monitoring and management are essential to ensure positive patient outcomes. Understanding the importance of calcium imbalance for the emergency and critical care nurse is paramount in preventing complications associated with cardiac conduction and muscle tone, especially the potential for airway compromise. Education is central to this and may include clinical case reviews, the application of pathophysiological presentations of electrolyte imbalance and a review of electrolyte administration guidelines. Understanding the role of calcium within the body will assist emergency and critical care nurses to assess, monitor and intervene appropriately, thereby preventing the life-threatening manifestations of hypocalcaemia.
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5.
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.
Barone, V, Del Re, V, Gamberucci, A, Polverino, V, Galli, L, Rossi, D, Costanzi, E, Toniolo, L, Berti, G, Malandrini, A, et al
Human mutation. 2017;(12):1761-1773
Abstract
Here, we report the identification of three novel missense mutations in the calsequestrin-1 (CASQ1) gene in four patients with tubular aggregate myopathy. These CASQ1 mutations affect conserved amino acids in position 44 (p.(Asp44Asn)), 103 (p.(Gly103Asp)), and 385 (p.(Ile385Thr)). Functional studies, based on turbidity and dynamic light scattering measurements at increasing Ca2+ concentrations, showed a reduced Ca2+ -dependent aggregation for the CASQ1 protein containing p.Asp44Asn and p.Gly103Asp mutations and a slight increase in Ca2+ -dependent aggregation for the p.Ile385Thr. Accordingly, limited trypsin proteolysis assay showed that p.Asp44Asn and p.Gly103Asp were more susceptible to trypsin cleavage in the presence of Ca2+ in comparison with WT and p.Ile385Thr. Analysis of single muscle fibers of a patient carrying the p.Gly103Asp mutation showed a significant reduction in response to caffeine stimulation, compared with normal control fibers. Expression of CASQ1 mutations in eukaryotic cells revealed a reduced ability of all these CASQ1 mutants to store Ca2+ and a reduced inhibitory effect of p.Ile385Thr and p.Asp44Asn on store operated Ca2+ entry. These results widen the spectrum of skeletal muscle diseases associated with CASQ1 and indicate that these mutations affect properties critical for correct Ca2+ handling in skeletal muscle fibers.
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Electrochemotherapy and calcium electroporation inducing a systemic immune response with local and distant remission of tumors in a patient with malignant melanoma - a case report.
Falk, H, Lambaa, S, Johannesen, HH, Wooler, G, Venzo, A, Gehl, J
Acta oncologica (Stockholm, Sweden). 2017;(8):1126-1131
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Regression of vascular calcification in a parathyroidectomized patient on dialysis with untreated hypocalcemia over 12-year follow-up
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Molina, P, Górriz, JL, Beltrán, S, Vizcaino, B, Pallardo, LM
Clinical nephrology. 2016;(12):333-339
Abstract
Although some experimental targets involved in calcium deposition are emerging, no intervention has been described to reliably reverse vascular calcification (VC). We report a case of severe VC regression in a parathyroidectomized patient on hemodialysis over 12-year follow-up, highlighting the use of calcium-free phosphate binders and a 2.5 mEq/L calcium dialysate for reducing calcium loading, despite persistent asymptomatic hypocalcemia occurrences. This case suggests that phosphate-binder choice and calcium dialysate concentration could be influenced by other components of CKD-MBD besides biochemical parameters, such as the presence of VC, so concluding that asymptomatic hypocalcemia may not be as harmful as once supposed, and conferring greater prognostic weight to the presence of VC than to calcium levels.
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Association of primary hyperparathyroidism and humoral hypercalcemia of malignancy in a patient with clear cell renal carcinoma.
Gomes, Lda S, Kulak, CA, Costa, TM, Vasconcelos, EC, Carvalho, Md, Borba, VZ
Archives of endocrinology and metabolism. 2015;(1):84-8
Abstract
Hypercalcemia is found frequently in patients with cancer. Besides the etiology related to the malignancy, other causes should be considered in the differential diagnostic, as primary hyperparathyroidism, granulomatous diseases and the use of thiazide diuretics. We present a case report of a severe hypercalcemia due to a rare association and review the relevant literature. A female patient, 57 years old, sent to the Endocrinology Service of Hospital das Clínicas da Universidade do Paraná (SEMPR) in order to investigate severe hypercalcemia with frequent need of hospitalization. The patient was in chemotherapy treatment for recurrence of clear cell renal cancer. During the investigation she presented high level of parathyroid hormone (PTH) and parathyroid scintigraphy suggestive of hyperplasia/ adenoma of parathyroid, histopathological diagnosis was confirmed after parathyroidectomy. After surgery the patient presented undetectable levels of PTH. However, she continued with progressive increase of serum calcium, with no signs of bone metastases or change in vitamin D metabolism. The investigation showed high levels of PTH-related protein (PTHrP), leading us to the diagnosis of hypercalcemia of malignancy. The patient presented severe hypercalcemia due to the rare association of primary hyperparathyroidism and humoral hypercalcemia of malignancy due to secretion of PTHrP by tumor cells. The presence of isolated primary hyperparathyroidism, as a cause of hypercalcemia in cancer patients, has been described in approximately 5-10% of the patients. However, the association of primary hyperparathyroidism and humoral hypercalcemia of malignancy (which means with concomitant elevation of PTH and PTHrP) is rare, only three cases have been described in the literature.
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9.
Recalcitrant Hypocalcemia after Thyroidectomy in Patients Post Sleeve Gastrectomy--Challenges in Management.
Vemuri, SR, Koganti, SB, Mukerji, A, Razi, S, Shah, A, Gilchrist, BF
The American surgeon. 2015;(12):E426-7
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10.
Calcium maelstrom: recalcitrant hypocalcaemia following rapid correction of thyrotoxicosis, exacerbated by pregnancy.
Shin, T, Guerrero, AF
BMJ case reports. 2015
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Abstract
A 29-year-old pregnant woman with Graves' disease presented with severe persistent hypocalcaemia after thyroidectomy. Six months prior to presentation she was diagnosed with Graves' disease and remained uncontrolled with methimazole. She was confirmed pregnant prior to radioactive iodine ablation (RAI), and underwent total thyroidectomy during her second trimester. After surgery, continuous intravenous calcium infusion was required until delivery of the fetus allowed discontinuation at postoperative day 18, despite oral calcium and calcitriol administration. A total of 38 g of oral and 7.5 g of intravenous elemental calcium was administered. We report an unusual case of recalcitrant hypocalcaemia thought to be due to a combination of postoperative hypoparathyroidism, combined with thyrotoxic osteodystrophy and pregnancy, after surgical correction of Graves' disease. Increased vigilance and early calcium supplementation should be a priority in the management of these patients.