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Hypocalcaemia

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https://www.readbyqxmd.com/read/28741586/a-new-mutation-in-the-calcium-sensing-receptor-gene-causing-hypocalcaemia-case-report-of-a-father-and-two-sons
#1
M K Schoutteten, B Bravenboer, S Seneca, K Stouffs, B Velkeniers
BACKGROUND: Regulation of calcium is mediated by parathyroid hormone (PTH) and 1.25-dihydroxyvitamine D3. The calcium-sensing receptor (CaSR) regulates PTH release by a negative feedback system. Gain-of-function mutations in the CaSR gene reset the calcium-PTH axis, leading to hypocalcaemia. PATIENTS AND METHODS: We analysed a family with hypocalcaemia. The proband was a 47-year-old man (index, patient I1), who presented with paraesthesias in both limbs. He has two sons (patient II1 a nd I I2)...
July 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/28740532/is-this-a-seizure
#2
Giulio Franceschet, Marta Mazzucato, Simona Censi, Stefano Simmini, Marco Boscaro, Valentina Camozzi
We describe a case of a 65-year-old woman admitted to the hospital for suspected of epileptic crisis. She was affected by diabetes and hiatal hernia for which she was taking Proton Pump Inhibitors (PPIs) for about 8 years. She showed hypocalcaemia, hypomagnesaemia, hyperparathyroidism and severe hypovitaminosis D. We exclude malabsorption and magnesium loss. After restored vitamin D levels, stopped use of PPI, start calcium and magnesium supplementation normal values of the ions were restored. This case underlies the importance of evaluate magnesium routinely, other than calcium and vitamin D, and use PPI more carefully...
January 2017: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/28728986/intra-capsular-total-thyroid-enucleation-versus-total-thyroidectomy-in-treatment-of-benign-multinodular-goiter-a-prospective-randomized-controlled-clinical-trial
#3
Alaa M Sewefy, Tohamy A Tohamy, Tarek M Esmael, Ahmed M Atyia
BACKGROUND: Due to high recurrence rate after subtotal thyroidectomy, most of centers have shifted to total thyroidectomy as a surgical treatment for benign multinodular goiter (BMNG), but serious complications, as laryngeal nerve affection & hypocalcaemia, are still present. This study aimed to evaluate treatment of BMNG using intra-capsular total thyroid enucleation in comparison to standard total thyroidectomy. PATIENTS &METHODS: This is a prospective randomized controlled clinical trial conducted in a hospital in the period from December 2009 to December 2015...
July 18, 2017: International Journal of Surgery
https://www.readbyqxmd.com/read/28727345/-denosumab-in-clinical-practice-beware-before-during-and-after
#4
Olivier Lamy, Elena Gonzalez-Rodriguez, Delphine Stoll, Bérengère Aubry-Rozier
Denosumab is a very effective treatment of osteoporosis, easy to use and very well tolerated. Due to some associated risks, a close clinical follow-up is necessary. Before the first injection, it is necessary to correct hypocalcaemia or vitamin D deficiency when present. Calcemia has to be followed in case of renal insufficiency. Injections of denosumab should be done scrupulously every 6 months (± 3 weeks). Discontinuation of denosumab is associated with a severe rebound effect characterized by increased markers of bone remodeling, a rapid decrease of bone density values, and a risk of multiple spontaneous vertebral fractures...
April 19, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28694734/case-report-of-unexplained-hypocalcaemia-in-a-slightly-haemolysed-sample
#5
Michael Cornes
The case presented highlights a common pre-analytical problem identified in the laboratory that was initially missed. It concerns a young, generally healthy adult patient with no significant medical history and no significant family history. They presented with common flu like symptoms to their primary care clinician who considered this was most likely a viral problem that would pass with time. The clinician, however, did some routine bloods to reassure the patient despite a lack of clinical indication. When the sample was analysed the sample was haemolysed with strikingly low calcium...
June 15, 2017: Biochemia Medica: časopis Hrvatskoga Društva Medicinskih Biokemičara
https://www.readbyqxmd.com/read/28685493/peripheral-neuropathy-episodic-rhabdomyolysis-and-hypoparathyroidism-in-a-patient-with-mitochondrial-trifunctional-protein-deficiency
#6
Peter van Vliet, Annelies E Berden, Mojca K M van Schie, Jaap A Bakker, Christian Heringhaus, Irenaeus F M de Coo, Mirjam Langeveld, Marielle A Schroijen, M Sesmu Arbous
A combination of unexplained peripheral neuropathy, hypoparathyroidism, and the inability to cope with metabolic stress could point to a rare inborn error of metabolism, such as mitochondrial trifunctional protein (MTP) deficiency.Here, we describe a 20-year-old woman who was known since childhood with axonal motor sensory polyneuropathy of unknown origin. She presented with progressive dyspnoea, and increased muscle weakness, preceded by 6 days of fever, vomiting, and diarrhoea. Laboratory testing showed rhabdomyolysis, and hypocalcaemia with low parathyroid levels...
July 7, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28677878/hypocalcaemia-induced-tetany-secondary-to-total-thyroidectomy-a-nursing-case-review
#7
Shannon Bakon, Judy Craft, Martin Christensen
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...
July 5, 2017: Nursing in Critical Care
https://www.readbyqxmd.com/read/28657248/dilated-cardiomyopathy-secondary-to-vitamin-d-deficiency-and-hypocalcaemia-in-the-irish-paediatric-population-a-case-report
#8
S Glackin, P Mayne, D Kenny, C J McMahon, D Cody
We identified three infants with dilated cardiomyopathy (DCM) secondary to severe vitamin D deficieny and hypocalcaemia. All infants were exclusively breast fed, from dark skinned ethnic backgrounds, born and living in Ireland. None of these pregnant mothers or infants received the recommended vitamin D supplementation. Each infant presented in heart failure and required inotropic support as well as calcium and vitamin D replacement. Cardiac function subsequently improved. This highlights the public health issue that many high risk pregnant mothers and infants are not receiving the recommended vitamin D supplementation...
March 10, 2017: Irish Medical Journal
https://www.readbyqxmd.com/read/28648114/pseudohypoparathyroidism-type-1b-a-rare-cause-of-tetany-case-report
#9
Catarina Garcia, Cátia R Correia, Lurdes Lopes
Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to the parathyroid hormone (PTH). A 16-year-old boy presented with a 2-year history of involuntary dystonic movements involving mainly the left hand, initially after writing and later during physical exercise. Serum calcium was 1.37 mmol/L (2.20-2.69), phosphate 2.1 mmol/L (0.8-1.45) and PTH 302 ng/L (12-88). CT scan of the head demonstrated multiple subcortical and diffuse basal ganglia calcifications. Genetic analysis confirmed a methylation defect in the GNAS cluster on chromosome 20q13...
June 26, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28624464/complex-phenotypes-associated-with-stim1-mutations-in-both-coiled-coil-and-ef-hand-domains
#10
Elizabeth Harris, Umar Burki, Chiara Marini-Bettolo, Marcella Neri, Chiara Scotton, Judith Hudson, Marta Bertoli, Teresinha Evangelista, Bas Vroling, Tuomo Polvikoski, Mark Roberts, Ana Töpf, Kate Bushby, Daniel McArthur, Hanns Lochmüller, Alessandra Ferlini, Volker Straub, Rita Barresi
Dominant mutations in STIM1 are a cause of three allelic conditions: tubular aggregate myopathy, Stormorken syndrome (a complex phenotype including myopathy, hyposplenism, hypocalcaemia and bleeding diathesis), and a platelet dysfunction disorder, York platelet syndrome. Previous reports have suggested a genotype-phenotype correlation with mutations in the N-terminal EF-hand domain associated with tubular aggregate myopathy, and a common mutation at p.R304W in a coiled coil domain associated with Stormorken syndrome...
May 4, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28618127/regional-citrate-anticoagulation-in-membrane-based-plasma-exchange-safety-efficacy-and-effect-on-calcium-balance
#11
Daniel Christiadi, Chari Mercado, Richard Singer
AIM: To assess the efficacy, safety and calcium balance of a membrane based regional citrate anticoagulation plasma exchange protocol METHODS: This was an observational, prospective, single center study of membrane separation plasma exchange using regional citrate anticoagulation. It was performed using a fixed dose pre-filter citrate infusion that was based on the plasma flow rate. Patients received a post filter calcium infusion which was modified during treatment based on systemic ionized calcium monitoring...
June 15, 2017: Nephrology
https://www.readbyqxmd.com/read/28588170/early-postoperative-parathyroid-hormone-level-as-a-predictor-of-hypocalcaemia-after-total-thyroidectomy
#12
S B Sharif, S A Rakib, K S Naznin, S M Alam
Postoperative transient hypocalcaemia is a common squeal after total thyroidectomy usually due to parathyroid insufficiency. Objective of this study is to find out the optimum cut-off value of parathyroid hormone (PTH) level in early postoperative period as a best predictor for hypocalcaemia. This prospective observational study was carried out from July 2013 to July 2014 in the Department of Surgery Sir Salimullah Medical College & Mitford Hospital (SSMC&MH), in collaboration with department of Otolaryngology SSMC&MH, department of Otolaryngology Bangabandhu Sheikh Mujib Medical University (BSMMU) and department of Otolaryngology Dhaka Medical College & Hospital (DMC&H), Dhaka...
April 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28587998/clinical-and-genetic-analysis-of-two-chinese-families-with-vitamin-d-dependent-rickets-type-ia-and-follow-up
#13
Chen Ruimin, Li Yunfei, Yuan Xin, Lin Xiangquan, Yang Xiaohong, Zhang Ying
OBJECTIVE: Vitamin D-dependent rickets type IA (VDDR-IA) is a rare autosomal recessive disorder characterized by the early onset of severe rickets. The objectives of this study were twofold: 1) to analyze the clinical characteristics and therapy of two patients with VDDR-IA from two separate Chinese family, and 2) investigate the CYP27B1 gene in two large pedigrees. METHODS: Medical history, clinical manifestations, physical examination, radiological findings and laboratory data were analyzed from two patients with VDDR-IA...
June 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28586591/celiac-crisis-a-rare-or-rarely-recognized-disease
#14
Nadia Waheed, Huma Arshad Cheema, Hassan Suleman, Zafar Fayyaz, Iqra Mushtaq, Muhammad, Almas Hashmi
BACKGROUND: Celiac crisis is a serious life threatening complication of celiac disease characterized by profuse diarrhoea, severe dehydration and metabolic disturbances leading to neuromuscular weakness, cardiac arrhythmias and sudden death. It has been described as rare condition and not well documented in the literature. To improve awareness and facilitate diagnosis of this condition, we studied risk factors, pattern of presentation and management plans of celiac crisis. METHODS: It was a descriptive cross sectional study...
October 2016: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28567198/biochemical-derangements-prior-to-emergency-laparotomy-at-queen-elizabeth-central-hospital-blantyre-malawi-a-cross-sectional-pilot-study
#15
Mark G Williams
BACKGROUND: The aim of this study was to examine biochemical investigations not routinely performed prior to emergency laparotomy in patients at Queen Elizabeth Central Hospital, a low-resource public hospital in Blantyre, Malawi. METHODS: A prospective cross-sectional study of adults (N = 15) needing emergency laparotomy over a 4-week period were studied at Queen Elizabeth Central Hospital. Biochemical investigations, not routinely performed for economic reasons, were performed preoperatively; these included sodium, potassium, chloride, carbon dioxide, urea, and calcium levels...
March 2017: Malawi Medical Journal: the Journal of Medical Association of Malawi
https://www.readbyqxmd.com/read/28552629/clinical-and-pathological-analysis-of-19-cases-of-medullary-thyroid-carcinoma-without-an-increase-in-calcitonin
#16
Qiufeng Zhou, Shuanglei Yue, Ye Cheng, Ju Jin, Haimiao Xu
BACKGROUND: Medullary thyroid carcinoma (MTC), defined as a malignant tumour with C-cell differentiation, is of neuroendocrine origin and is characterized by the synthesis and secretion of calcitonin (CT). MTC without CT secretion has been reported on rare occasions. The purpose of this study was to evaluate the histological, immunohistochemical, and molecular pathologic features as well as the clinical significance of non-secretory MTC (NCR-MTC). METHODS: A retrospective analysis of patients with NCR-MTC was performed...
May 25, 2017: Experimental and Toxicologic Pathology: Official Journal of the Gesellschaft Für Toxikologische Pathologie
https://www.readbyqxmd.com/read/28537560/analysis-of-factors-affecting-the-development-of-hypocalcaemia-after-multinodular-goitre-surgery
#17
Piotr Papaj, Sławomir Kozieł, Sławomir Mrowiec
INTRODUCTION: Thyroidectomy is a common surgery performed especially in treatment of multinodular goitre. The most common post-thyroidectomy complication is a postoperative hypocalcaemia, and the percentage of postoperative hypoparathyroidism could reach even 50%. Tested group and methods: A forward-looking, randomized testing was done on a group of 113 women being subject to multinodular goitre surgery. In this article, we wish to present an analysis of the results obtained in the control group, focusing on the predicative factors which determine the development of postoperative hypocalcaemia...
April 30, 2017: Polski Przeglad Chirurgiczny
https://www.readbyqxmd.com/read/28512123/treatment-of-severe-hypocalcaemia-due-to-osteoblastic-metastases-in-a-patient-with-post-thyroidectomy-hypoparathyroidism-with-153-sm-edtmp
#18
Eva Kassi, Ifigeneia Kapsali, Michalis Kokkinos, Helen Gogas
Symptomatic hypocalcaemia is an uncommon finding in patients with malignant tumours. We describe a patient with advanced metastatic breast cancer who developed severe hypocalcaemia caused by the combination of osteoblastic metastases and a permanent postoperative hypoparathyroidism. The patient failed to be treated with the conventional replacement therapy and was submitted effectively to radionucleotide therapy with (153)Sm.
May 16, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28511481/relationship-of-on-admission-hypocalcaemia-and-illness-severity-as-measured-by-apache-ii-and-sofa-score-in-intensive-care-patients
#19
Samarjit Dey, Habib Md Reazaul Karim, Mohd Yunus, Angkita Barman, Prithwis Bhattacharyya, Manas Pratim Borthakur
INTRODUCTION: Hypocalcaemia is very much prevalent in critically ill patients yet very less is known about its association with severity of illness. Acute Physiology and Chronic Health Evaluation (APACHE) and Sequential Organ Failure Assessment (SOFA) are two commonly used and validated scoring tool used to assess the severity of illness in critically ill patients. AIM: To analyze the relation of on admission hypocalcaemia with severity of illness as measured by APACHE-II and SOFA scores...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28507402/proton-pump-inhibitor-associated-hypomagnesaemia-and-hypocalcaemia
#20
Christopher Morris, Peter Pillans
No abstract text is available yet for this article.
April 2017: Australian Prescriber
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