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Hypoparathyroid

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https://www.readbyqxmd.com/read/28433099/other-organ-involvement-and-clinical-aspects-of-wilson-disease
#1
Karolina Dzieżyc, Tomasz Litwin, Anna Członkowska
Wilson disease (WD) is a rare disorder of copper metabolism that presents mainly with hepatic and neuropsychiatric features. Copper accumulates not only in the liver and brain, but also in other organs. Liver injury can also be the cause of secondary impairment of other tissues. Therefore, the clinical manifestation of WD may be renal, cardiac, skin, osteoarticular, or endocrinologic and include other organ disturbances. Renal abnormalities include tubular dysfunction (e.g., renal tubular acidosis, aminoaciduria) and nephrolithiasis...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28422826/idiopathic-hypoparathyroidism-with-extensive-intracranial-calcification-in-children-first-report-from-saudi-arabia
#2
Naglaa M Kamal, Hamed A Alghamdi, Abdulrahman A Halabi, Ayman A Bakkar, Ali Algarni, Abdullah Alharbi, Abdulla A Alharthi, Rawan A Alharbi, Laila M Sherief
RATIONALE: Pediatric idiopathic hypoparathyroidism with extensive intracranial calcifications outside the basal ganglia (BG) is extremely rare with less than 10 cases worldwide. PATIENT CONCERNS: An 11-year-old Saudi male child presented with tetany with otherwise normal neurological and other body system examination diagnoses severe hypocalcemia for differential diagnosis. INTERVENTIONS: Further investigations revealed hyperphosphatemia and undetectable serum intact parathyroid hormone...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28421700/growth-characteristics-and-endocrine-abnormalities-in-22q11-2-deletion-syndrome
#3
Yael Levy-Shraga, Doron Gothelf, Zohar Goichberg, Uriel Katz, Raz Somech, Orit Pinhas-Hamiel, Dalit Modan-Moses
22q11.2 deletion syndrome (22q11.2DS) has a wide range of clinical features including endocrine abnormalities. We aimed to characterize growth patterns, hypoparathyroidism, and thyroid dysfunction of individuals with 22q11.2DS. Anthropometric and laboratory measurements were obtained from the charts of 48 individuals (males=28, 8.0±6.8 visits/participant) followed at a national 22q11.2DS clinic between 2009 and 2016. Age at diagnosis was 4.3±4.9 years and age at last evaluation 11.2±7.2 years. Median height-SDS was negative at all ages...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28409443/role-of-prophylactic-central-neck-dissection-in-clinically-node-negative-differentiated-thyroid-cancer-assessment-of-the-risk-of-regional-recurrence
#4
Pietro Giorgio Calò, Celestino Pio Lombardi, Francesco Podda, Luca Sessa, Luigi Santini, Giovanni Conzo
Prophylactic central neck dissection in clinically node-negative patients remains controversial. The aim of this multicenter retrospective study was to determine the rate of metastases in the central neck in clinically node-negative differentiated thyroid cancer patients, to examine the morbidity, and to assess the risk of regional recurrence in patients treated with total thyroidectomy with concomitant bilateral or ipsilateral central neck dissection compared with those undergoing total thyroidectomy alone...
April 13, 2017: Updates in Surgery
https://www.readbyqxmd.com/read/28391286/basal-ganglia-calcification-with-tetanic-seizure-suggest-mitochondrial-disorder
#5
Josef Finsterer, Barbara Enzelsberger, Adam Bastowansky
BACKGROUND Basal ganglia calcification (BGC) is a rare sporadic or hereditary central nervous system (CNS) abnormality, characterized by symmetric or asymmetric calcification of the basal ganglia. CASE REPORT We report the case of a 65-year-old Gypsy female who was admitted for a tetanic seizure, and who had a history of polyneuropathy, restless-leg syndrome, retinopathy, diabetes, hyperlipidemia, osteoporosis with consecutive hyperkyphosis, cervicalgia, lumbalgia, struma nodosa requiring thyroidectomy and consecutive hypothyroidism, adipositas, resection of a vocal chord polyp, arterial hypertension, coronary heart disease, atheromatosis of the aorta, peripheral artery disease, chronic obstructive pulmonary disease, steatosis hepatis, mild renal insufficiency, long-term hypocalcemia, hyperphosphatemia, impingement syndrome, spondylarthrosis of the lumbar spine, and hysterectomy...
April 9, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28384917/delayed-post-surgical-hypoparathyroidism-the-forgotten-chameleon
#6
Sangita Deepak Kamath, Balllamudi Srinivas Rao
Delayed hypoparathyroidism, due to accidental gland removal or ischemia of parathyroids can present many years after thyroidectomy and symptoms may be non-specific. This condition, if not diagnosed timely, may prove fatal and have serious consequences. Hence, clinicians must have a high index of suspicion to treat this condition. All patients with a history of previous thyroid surgery, who come with vague symptoms like fatigue, muscle aches should undergo estimation of serum calcium, phosphorus and Parathyroid Hormone (PTH) due to the lack of any pathognomonic features of hypoparathyroidism...
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28382733/iatrogenic-calcinosis-cutis-successfully-treated-with-topical-sodium-thiosulfate
#7
Emilio García-García, Rocío López-López, Concepción Álvarez-Del-Vayo, José Bernabeu-Wittel
Calcinosis cutis is a term used to describe a group of disorders in which calcium salt deposits form in the skin and subcutaneous tissue. We report a 6-year-old boy with hypoparathyroidism after thyroidectomy who was admitted to the hospital for severe hypocalcemia being treated with calcium gluconate intravenous infusion through peripheral veins. Within a few days we made a diagnosis of iatrogenic calcinosis cutis and treatment with 10% topical sodium thiosulfate was prescribed; complete resolution of lesions was achieved after 6 months, with no local or systemic adverse effects...
April 6, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28381757/an-adult-case-of-chromosome-22q11-2-deletion-syndrome-associated-with-a-high-positioned-right-aortic-arch
#8
Yoichi Hoshino, Moriya Machida, Shun-Ichi Shimano, Teizo Taya
Chromosome 22q11.2 deletion syndrome (22q11.2 DS) has a very wide phenotypic spectrum that includes dysmorphic features, cardiac anomalies, and hypocalcemia arising from hypoparathyroidism. We herein describe an adult case of 22q11.2 DS with associated hypoparathyroidism and anomalies of the aortic arch. Because the patient had been diagnosed with primary hypoparathyroidism at another hospital, a diagnosis of 22q11.2 DS had been overlooked. A chest X-ray examination revealed widening of the mediastinum caused by a high-positioned right aortic arch, and we subsequently confirmed a diagnosis of 22q11...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28374646/staged-surgery-for-advanced-thyroid-cancers-safety-and-oncologic-outcomes-of-neural-monitored-surgery
#9
Behzad Salari, Rebecca J Hammon, Dipti Kamani, Gregory W Randolph
Objective Thyroidectomy with extensive multicompartment bilateral neck dissections for advanced-stage thyroid cancer may lead to increased risk of complications, including bilateral recurrent laryngeal nerve (RLN) paralysis and hypoparathyroidism. A planned staged approach derived from a detailed preoperative radiographic map is associated with a low complication profile. This study evaluates oncologic results and safety of neural monitored, staged thyroid cancer surgery for management of advanced thyroid cancer...
April 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28373577/parathyroid-hormone-controls-paracellular-ca-2-transport-in-the-thick-ascending-limb-by-regulating-the-tight-junction-protein-claudin14
#10
Tadatoshi Sato, Marie Courbebaisse, Noriko Ide, Yi Fan, Jun-Ichi Hanai, Jovana Kaludjerovic, Michael J Densmore, Quan Yuan, Hakan R Toka, Martin R Pollak, Jianghui Hou, Beate Lanske
Renal Ca(2+) reabsorption is essential for maintaining systemic Ca(2+) homeostasis and is tightly regulated through the parathyroid hormone (PTH)/PTHrP receptor (PTH1R) signaling pathway. We investigated the role of PTH1R in the kidney by generating a mouse model with targeted deletion of PTH1R in the thick ascending limb of Henle (TAL) and in distal convoluted tubules (DCTs): Ksp-cre;Pth1r(fl/fl) Mutant mice exhibited hypercalciuria and had lower serum calcium and markedly increased serum PTH levels. Unexpectedly, proteins involved in transcellular Ca(2+) reabsorption in DCTs were not decreased...
April 3, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28363614/acute-symptomatic-hypocalcemia-from-immune-checkpoint-therapy-induced-hypoparathyroidism
#11
Myint Aung Win, Kyaw Zin Thein, Aiham Qdaisat, Sai-Ching Jim Yeung
BACKGROUND: Ipilimumab (a monoclonal antibody against CTLA-4) and nivolumab (a humanized antibody against PD-1) target these immune checkpoint pathways and are used for treatment of melanoma and an increasing number of other cancers. However, they may cause immune-related adverse effects (IRAEs). Although many endocrinopathies are known to be IRAEs, primary hypoparathyroidism with severe hypocalcemia has never been reported. This is the first case of hypoparathyroidism as an IRAE presenting to an Emergency Department with acute hypocalcemia...
February 27, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28362393/two-techniques-to-create-hypoparathyroid-mice-parathyroidectomy-using-gfp-glands-and-diphtheria-toxin-mediated-parathyroid-ablation
#12
Ruiye Bi, Yi Fan, En Luo, Quan Yuan, Michael Mannstadt
Hypoparathyroidism (HP) is a disorder characterized by low levels of PTH which lead to hypocalcemia, hyperphosphatemia, and low bone turnover. The most common cause of the disease is accidental removal of the parathyroid glands during thyroid surgery. Novel therapies for HP are needed, but testing them requires reliable animal models of acquired HP. Here, we demonstrate the generation of two mouse models of acquired HP. In the GFP-PTX model, mice with green fluorescent protein (GFP) expressed specifically in the parathyroids (PTHcre-mTmG) were created by crossing PTHcre(+) mice with Rosa-mTmG(fl/fl) mice...
March 14, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28359102/surgery-for-neck-recurrence-of-differentiated-thyroid-cancer-outcomes-and-risk-factors
#13
Livia Lamartina, Isabelle Borget, Haitham Mirghani, Abir Al Ghuzlan, Amandine Berdelou, François Bidault, Désirée Deandreis, Eric Baudin, Jean-Paul Travagli, Martin Schlumberger, Dana M Hartl, Sophie Leboulleux
Background: Persistent/recurrent disease in the neck is frequent in patients with differentiated thyroid cancer (DTC). Objective: Assess efficacy, safety, and prognostic factors of first neck reoperation in DTC. Methods: Retrospective study of consecutive patients undergoing neck reoperation for recurrent/persistent DTC in a referral cancer center. Response after reoperation was defined according to the 2015 American Thyroid Association guidelines...
March 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28358958/association-of-parathyroid-gland-biopsy-excision-technique-with-ex-vivo-radiation-counts-during-radioguided-parathyroid-surgery
#14
Andrew M Hinson, Bradley R Lawson, Aime T Franco, Brendan C Stack
Importance: Parathyroid biopsy represents a means for normal and hyperfunctional glands to be distinguished intraoperatively. However, no data exist to guide surgeons regarding how much of a parathyroid gland must be biopsied to satisfy the 20% rule. Objective: To quantify the relative proportion of a hyperfunctional parathyroid gland that must be evaluated with the gamma probe to satisfy the 20% rule. Design, Setting, and Participants: A retrospective review of surgical data for 24 consecutive patients (16 women, 18 men; mean [SD] age, 66...
March 30, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28350886/parathyroid-score-can-predict-the-duration-of-required-calcium-supplementation-after-total-thyroidectomy
#15
Bup-Woo Kim, Soo Young Kim, Yong Sang Lee, Seok-Mo Kim, Hang-Seok Chang, Cheong Soo Park
BACKGROUND: Postoperative hypoparathyroidism is the most common complication after total thyroidectomy, owing to unintentional injury or decreased blood flow to the parathyroid glands. Prediction of postoperative hypoparathyroidism would be helpful for surgeons to manage postoperative hypocalcemia. In this study, we scored the discoloration of the parathyroid glands using a new parathyroid scoring system and evaluated the correlation between the parathyroid score and duration of required calcium supplementation after total thyroidectomy...
2017: PloS One
https://www.readbyqxmd.com/read/28337546/robotic-thyroidectomy-versus-conventional-open-thyroidectomy-for-thyroid-cancer-a-systematic-review-and-meta-analysis
#16
Jing-Hua Pan, Hong Zhou, Xiao-Xu Zhao, Hui Ding, Li Wei, Li Qin, Yun-Long Pan
BACKGROUND: Despite the new technical alternative offered by the robotic surgery for minimally invasive thyroid surgery, the role of the robotic thyroidectomy (RT) in thyroid cancer has been highly disputed. This paper gives a systematic review and meta-analysis aiming to compare RT and open thyroidectomy (OT) based on the surgical outcomes and oncologic results. METHODS: Relevant literature was searched from various databases up to July 2016, including PubMed, MEDLINE, EMBASE, Cochrane Library, Web of science and Clinical Trials...
March 23, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28332412/drug-safety-evaluation-of-parathyroid-hormone-for-hypocalcemia-in-patients-with-hypoparathyroidism
#17
Gemma Marcucci, Giuseppe Della Pepa, Maria Luisa Brandi
Hypoparathyroidism is a rare disorder characterized by low serum calcium levels and high serum phosphate levels. This disease is commonly treated with calcium supplements and active vitamin D metabolites or analogues, but large doses of these supplements are often utilized to relieve the symptoms caused by hypocalcemia, without guarantee of a physiological normalization of calcium-phosphate homeostasis. Areas covered: Several studies have investigated replacement therapy with recombinant human PTH [rhPTH (1-84) and rhPTH (1-34)] for subjects with hypoparathyroidism...
March 23, 2017: Expert Opinion on Drug Safety
https://www.readbyqxmd.com/read/28326749/a-case-of-autoimmune-polyendocrine-syndrome-type-i-with-strong-positive-gad-antibody-titer-followed-up-with-glucose-tolerance-measured-by-oral-glucose-tolerance-test
#18
Rie Murakami, Toshihide Kawai, Shu Meguro, Matsuhiko Hayashi, Hiroshi Itoh
A 26-year-old Japanese woman presented with adrenal insufficiency, and treatment was started with cortisone and fludrocortisone in 1975. A few years later, she presented with hypoparathyroidism and was diagnosed with autoimmune polyendocrine syndrome type I (APS I), and treatment with calcium and alfacalcidol was started. She was found to have subacute thyroiditis and relative adrenal failure in 2006. Her condition remained stable under treatment with cortisone, fludrocortisone, levothyroxine, calcium lactate, precipitated calcium carbonate and alfacalcidol...
January 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28324108/hypoparathyroidism-less-severe-hypocalcemia-with-treatment-with-vitamin-d2-compared-to-calcitriol
#19
Elizabeth A Streeten, Yasaman Mohtasebi, Manige Konig, Lisa Davidoff, Kathleen Ryan
Context: Options for chronic treatment of hypoparathyroidism include calcitriol, recombinant human parathyroid hormone and high dose vitamin D (D2). D2 is used in a minority because of fear of prolonged hypercalcemia and renal toxicity. There is a paucity of recent data about D2 use in hypoparathyroidism. Objective: Compare renal function, hypercalcemia and hypocalcemia in patients with hypoparathyroidism treated chronically with either D2 or calcitriol. Design, setting, patients: A retrospective study of patients with hypoparathyroidism treated at University of Maryland Hospital...
January 23, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323927/exome-sequencing-reveals-mutations-in-aire-as-a-cause-of-isolated-hypoparathyroidism
#20
Dong Li, Elizabeth A Streeten, Alice Chan, Wint Lwin, Lifeng Tian, Renata Pellegrino da Silva, Cecilia E Kim, Mark S Anderson, Hakon Hakonarson, Michael A Levine
Context: Most cases of autosomal recessive hypoparathyroidism (HYPO) are caused by loss-of-function mutations in GCM2 or PTH. Objective: To identify the underlying genetic basis for isolated HYPO in a kindred in which three of ten siblings were affected. Subjects: We studied the parents and the three adult affected subjects, each of whom was diagnosed with HYPO in the first decade of life. Methods: We collected clinical and biochemical data and performed whole exome sequencing (WES) analysis on DNA from the three affected subjects after negative genetic testing for known causes of HYPO...
February 21, 2017: Journal of Clinical Endocrinology and Metabolism
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