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https://www.readbyqxmd.com/read/28938448/novel-autosomal-dominant-pth-gene-signal-sequence-mutation-in-a-family-with-familial-isolated-hypoparathyroidism
#1
Luigia Cinque, Angelo Sparaneo, Laura Penta, Amedea Mencarelli, Daniela Rogaia, Susanna Esposito, Federico Pio Fabrizio, Filomena Baorda, Alberto Verrotti, Alberto Falorni, Gabriela Stangoni, Geoffrey N Hendy, Vito Guarnieri, Paolo Prontera
Context: Familial isolated hypoparathyroidism (FIH) is a genetically heterogeneous disorder due to mutations of the calcium-sensing receptor (CASR), glial cells missing-2 (GCM2), guanine nucleotide binding protein alpha 11 (GNA11), or parathyroid hormone (PTH) genes. Thus far, only 4 cases with homozygous and 2 cases with heterozygous mutations in the PTH gene have been reported. Objective: To clinically describe an FIH family and identify and characterize the causal gene mutation...
August 18, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938396/transgenic-expression-of-the-vitamin-d-receptor-restricted-to-the-ileum-cecum-and-colon-of-vitamin-d-receptor-knockout-mice-rescues-vitamin-d-receptor-dependent-rickets
#2
Puneet Dhawan, Vaishali Veldurthy, Ghassan Yehia, Connie Hsaio, Angela Porta, Ki-In Kim, Nishant Patel, Liesbet Lieben, Lieve Verlinden, Geert Carmeliet, Sylvia Christakos
Although the intestine plays the major role in 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) action on calcium homeostasis, the mechanisms involved remain incompletely understood. The established model of 1,25(OH)2D3 regulated intestinal calcium absorption postulates a critical role for the duodenum. However it is the distal intestine where 70 -80% of the ingested calcium is absorbed. In order to test directly the role of 1,25(OH)2D3 and the vitamin D receptor (VDR) in the distal intestine, 3 independent knockout (KO) /transgenic (TG) lines expressing VDR exclusively in the ileum, cecum and colon were generated by breeding VDR KO mice with TG mice expressing human (h)VDR under the control of the 9...
September 11, 2017: Endocrinology
https://www.readbyqxmd.com/read/28937071/insomnia-in-hemodialysis-patients-a-multicenter-study-from-morocco
#3
Mohamed Amine Hamzi, Kawtar Hassani, Mohamed Asseraji, Driss El Kabbaj
Previous studies have shown that insomnia is a common sleep disorder in patients with end-stage renal disease. This study aims to determine the prevalence and risk factors of insomnia in our chronic hemodialysis (HD) patients. This is a cross-sectional study conducted in three HD units in Morocco. To assess the prevalence of insomnia, we used a specific questionnaire. Patients complaining of difficulty in falling asleep and/or nocturnal awakenings occurring seven nights a week during the last month were included in the group "insomnia;" the other patients were used as controls...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28937054/the-importance-of-bone-biopsy-in-chronic-kidney-disease-mineral-bone-disorders
#4
REVIEW
Periklis Dousdampanis, Kostantina Trigka
Renal osteodystrophy (ROD) is not a uniform bone disease; it is a heterogeneous group of metabolic bone diseases due to chronic kidney disease (CKD). The traditional term of ROD does not accurately include the wide spectrum of "CKD-mineral and bone disorder" (CKD-MBD) and has been restricted to define the several specific histologic disturbances of bone disease associated with CKD. Circulating parathyroid hormone (PTH) and total alkaline phosphatase levels do not always reflect bone turnover in CKD-MBD, whereas bone biopsy provides precise information regarding bone pathology...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28937024/celiac-disease-related-osteopathy-among-saudi-celiac-patients-are-we-adherent-to-recommendations
#5
Mona A Fouda
BACKGROUND/AIMS: There are no reports from Saudi Arabia documenting the picture of osteopathy in celiac disease (CD) and the adherence of physicians to the guidelines and recommendations to screen for bone disease. We conducted this study to document the prevalence of CD-related osteopathy and the Saudi physicians' adherence to the screening recommendations. PATIENTS AND METHODS: We identified the biopsy proven CD cases diagnosed between 2003 and 2012. In addition to demographic data, we collected laboratory (serum calcium, phosphate, alkaline phosphatase, 25-dihydroxy vitamin D, and parathyroid hormone levels) and imaging [Dual-energy X-ray absorptiometry (DEXA)] data...
September 2017: Saudi Journal of Gastroenterology: Official Journal of the Saudi Gastroenterology Association
https://www.readbyqxmd.com/read/28934958/integrated-network-analysis-to-explore-the-key-genes-regulated-by-parathyroid-hormone-receptor-1-in-osteosarcoma
#6
Donghui Guan, Honglai Tian
BACKGROUND: As an invasive malignant tumor, osteosarcoma (OS) has high mortality. Parathyroid hormone receptor 1 (PTHR1) contributes to maintaining proliferation and undifferentiated state of OS. This study is designed to reveal the action mechanisms of PTHR1 in OS. METHODS: Microarray dataset GSE46861, which included six PTHR1 knockdown OS samples and six control OS samples, was obtained from the Gene Expression Omnibus database. The differentially expressed genes (DEGs) were identified and then performed with enrichment analysis separately using the limma package and DAVID online tool...
September 21, 2017: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28933742/vitamin-d-supplementation-improves-quality-of-life-and-physical-performance-in-osteoarthritis-patients
#7
Pacharee Manoy, Pongsak Yuktanandana, Aree Tanavalee, Wilai Anomasiri, Srihatach Ngarmukos, Thanathep Tanpowpong, Sittisak Honsawek
(1) Background: Lower levels of serum 25-hydroxyvitamin D (25(OH)D) are common in osteoarthritis (OA) patients. However, the effect of vitamin D supplementation on muscle strength and physical performance remains unclear. This study will investigate the effects of vitamin D₂ supplementation on muscle strength and physical performance in knee OA patients; (2) Methods: One hundred and seventy-five primary knee OA patients with low levels of serum 25(OH)D (<30 ng/mL) received 40,000 IU vitamin D₂ (ergocalciferol) per week for six months...
July 26, 2017: Nutrients
https://www.readbyqxmd.com/read/28930844/health-related-quality-of-life-assessment-in-surgical-patients-with-papillary-thyroid-carcinoma-a-single-center-analysis-from-mainland-china
#8
Juxiang Gou, Wenjie Cheng, Jianyong Lei, Qian Pan, Wei You, Ming Cai, Huairong Tang, Yali Lei, Zhihui Li, Rixiang Gong, Jinqiang Zhu
Even with a favorable prognosis, the health-related quality of life (HRQoL) of papillary thyroid carcinoma (PTC) patients remains unclear and conflicting. Thus, in the present study, we compared the HRQoL of PTC patients with that of the general population (GP).The study was performed in our thyroid and parathyroid surgery department, and 186 PTC patients who had undergone thyroidectomy were included. The exclusion criteria were an age < 18 years, no follow-up, and the presence of other malignant neoplasms...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28929381/recombinant-parathyroid-hormone-versus-usual-care-do-the-outcomes-justify-the-cost
#9
Kathryn H Chomsky-Higgins, Holly M Rochefort, Carolyn D Seib, Jessica E Gosnell, Wen T Shen, Quan-Yang Duh, Insoo Suh
BACKGROUND: Hypoparathyroidism is a potential outcome of anterior neck surgery. Commonly it is managed by calcium and vitamin D supplementation in large doses, with attendant side effects. A recombinant human parathyroid hormone (rhPTH) is now available in the USA, offering a potentially more effective treatment. No cost-effectiveness model investigating this new medication versus standard care has yet been published. METHODS: We constructed a decision analytic model comparing usual care versus rhPTH treatment for postsurgical hypoparathyroidism...
September 19, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28928248/carbonic-anhydrase-iii-protects-osteocytes-from-oxidative-stress
#10
Chao Shi, Yuhei Uda, Christopher Dedic, Ehab Azab, Ningyuan Sun, Amira I Hussein, Christopher A Petty, Keertik Fulzele, Maria C Mitterberger-Vogt, Werner Zwerschke, Renata Pereira, Kunzheng Wang, Paola Divieti Pajevic
Osteocytes are master orchestrators of bone remodeling; they control osteoblast and osteoclast activities both directly via cell-to-cell communication and indirectly via secreted factors, and they are the main postnatal source of sclerostin and RANKL (receptor activator of NF-kB ligand), two regulators of osteoblast and osteoclast function. Despite progress in understanding osteocyte biology and function, much remains to be elucidated. Recently developed osteocytic cell lines-together with new genome editing tools-has allowed a closer look at the biology and molecular makeup of these cells...
September 19, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28926829/continuous-subcutaneous-recombinant-parathyroid-hormone-1-34-infusion-in-the-management-of-childhood-hypoparathyroidism-associated-with-malabsorption
#11
Vrinda Saraff, Anya Rothenbuhler, Wolfgang Högler, Agnès Linglart
BACKGROUND/AIMS: Hypoparathyroidism associated with malabsorption can be particularly challenging to manage due to limited and erratic intestinal absorption of calcium and vitamin D analogues, resulting in episodes of hypo- or hypercalcaemia. We evaluated the role of continuous subcutaneous recombinant parathyroid hormone (rhPTH 1-34) infusion (CSPI) in children with hypoparathyroidism associated with intestinal malabsorption resistant to conventional therapy. METHOD: Four patients (8-13 years of age), with symptomatic hypocalcaemia resistant to conventional therapy, were started on CSPI (follow-up 3-8 years) in two paediatric endocrinology units in Europe...
September 19, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28926360/relationship-of-vitamin-d-and-parathyroid-hormone-with-the-nocturnal-blood-pressure-decline-in-hypertension
#12
Makbule K Karadag, Ozlem Secen
OBJECTIVES: Vitamin D deficiency and high parathyroid hormone (PTH) levels have been linked with hypertension. Nondipper hypertension is associated with increased morbidity and mortality. We aimed to investigate the relationship of vitamin D and PTH levels with nondipper hypertension and nocturnal decline in untreated hypertensive patients. PATIENTS AND METHODS: This cross-sectional study included a total of 73 hypertensive and 34 normotensive participants. Each patient underwent 24-hour ambulatory blood pressure monitoring, routine biochemical tests, vitamin D, and PTH analysis...
September 18, 2017: Blood Pressure Monitoring
https://www.readbyqxmd.com/read/28923463/hyperparathyroidism
#13
REVIEW
John P Bilezikian, Leonardo Bandeira, Aliya Khan, Natalie E Cusano
Primary hyperparathyroidism is a common endocrine disorder of calcium metabolism characterised by hypercalcaemia and elevated or inappropriately normal concentrations of parathyroid hormone. Almost always, primary hyperparathyroidism is due to a benign overgrowth of parathyroid tissue either as a single gland (80% of cases) or as a multiple gland disorder (15-20% of cases). Primary hyperparathyroidism is generally discovered when asymptomatic but the disease always has the potential to become symptomatic, resulting in bone loss and kidney stones...
September 15, 2017: Lancet
https://www.readbyqxmd.com/read/28922546/single-dose-local-administration-of-teriparatide-with-a-octacalcium-phosphate-collagen-composite-enhances-bone-regeneration-in-a-rodent-critical-sized-calvarial-defect
#14
Fumihiko Kajii, Atsushi Iwai, Hidenori Tanaka, Keiko Matsui, Tadashi Kawai, Shinji Kamakura
Octacalcium phosphate and collagen composite (OCP/Col) achieves stable bone regeneration without cell transplantation in preclinical studies. Recently, a sponsor-initiated clinical trial was conducted to commercialize the material. The present study investigated bone regeneration by OCP/Col with the single local administration of teriparatide (parathyroid hormone 1-34; TPTD). OCP/Col was prepared by mixing sieved granules of OCP and atelocollagen for medical use and a disk was molded. After the creation of a rodent critical-sized calvarial defect, OCP/Col or OCP/Col with dripped TPTD solution (1...
September 18, 2017: Journal of Biomedical Materials Research. Part B, Applied Biomaterials
https://www.readbyqxmd.com/read/28921422/high-incidence-of-secondary-hyperparathyroidism-in-bariatric-patients-comparing-different-procedures
#15
Jih-Hua Wei, Wei-Jei Lee, Keong Chong, Yi-Chih Lee, Shu-Chun Chen, Po-Hsun Huang, Shing-Jong Lin
BACKGROUND: Bariatric surgery is an effective therapy for morbid obesity but may reduce calcium absorption and significantly decrease the bone mineral density. This study examined the prevalence of secondary hyperparathyroidism (SHPT) in obese subjects during follow-up after different bariatric surgeries. We investigated predictors of SHPT. METHODS: We enrolled 1470 obese subjects undergoing bariatric/metabolic surgery with at least 1-year follow-up, including 322 patients undergoing Roux-en-Y gastric bypass (RYGB), 695 undergoing single anastomosis (mini-) gastric bypass (SAGB), 93 undergoing laparoscopic adjustable gastric banding (LAGB), and 360 undergoing sleeve gastrectomy (SG)...
September 18, 2017: Obesity Surgery
https://www.readbyqxmd.com/read/28920943/expression-function-and-regulation-of-the-embryonic-transcription-factor-tbx1-in-parathyroid-tumors
#16
Chiara Verdelli, Laura Avagliano, Vito Guarnieri, Filomena Cetani, Stefano Ferrero, Leonardo Vicentini, Edoardo Beretta, Alfredo Scillitani, Pasquale Creo, Gaetano Pietro Bulfamante, Valentina Vaira, Sabrina Corbetta
Transcription factors active in embryonic parathyroid cells can be maintained in adult parathyroids and be involved in tumorigenesis. TBX1, the candidate gene of 22q11.2-DiGeorge syndrome, which includes congenital hypoparathyroidism, is involved in parathyroid embryogenesis. The study aimed to investigate expression, function, and regulation of the parathyroid embryonic transcription factor TBX1 in human parathyroid adult normal and tumor tissues. TBX1 transcripts were detected in normal parathyroids and were deregulated in parathyroid tumors...
September 18, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28920787/calcinosis-circumscripta-in-a-cohort-of-related-juvenile-african-lions-panthera-leo
#17
Kendra L Bauer, Samantha J Sander, James C Steeil, Timothy F Walsh, Donald L Neiffer
Three juvenile, genetically related African lions (Panthera leo) were evaluated for discrete dome-shaped subcutaneous masses present over the proximal lateral metatarsal-tarsal area. The lesions measured 3-8 cm in diameter, were fluctuant to firm, nonulcerated, and attached to underlying structures. On radiographic evaluation, the lesions were characterized by well-circumscribed punctate mineralizations in the soft tissue surrounded by soft tissue swelling without evidence of adjacent bony involvement. On cut surface, the lesions were made of numerous loculi containing 2-5-mm round-to-ovoid, white-to-gray, firm structures interspersed with fibrous tissue and pockets of serosanguinous fluid...
September 2017: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/28919050/disease-and-treatment-factors-associated-with-lower-quality-of-life-scores-in-adults-with-multiple-endocrine-neoplasia-type-i
#18
Sneha Goswami, Benjamin J Peipert, Irene Helenowski, Susan E Yount, Cord Sturgeon
BACKGROUND: Physical and psychosocial morbidity of multiple endocrine neoplasia type-1 is ill-defined. How disease and treatment-related factors relate to patient-reported outcomes including health-related quality of life is unknown. We hypothesized that disease and treatment burden negatively impacts health-related quality of life in adults with multiple endocrine neoplasia type-1. METHODS: Adults (≥18 years) with multiple endocrine neoplasia type-1 completed an online survey of demographics, disease features, treatments, and Patient-Reported Outcomes Measurement Information System 29-item profile measure, and scores were compared with normative US data...
September 14, 2017: Surgery
https://www.readbyqxmd.com/read/28918310/effect-of-eplerenone-on-markers-of-bone-turnover-in-patients-with-primary-hyperparathyroidism-the-randomized-placebo-controlled-epath-trial
#19
Nicolas Verheyen, Martin R Grübler, Andreas Meinitzer, Christian Trummer, Verena Schwetz, Karin Amrein, Hans P Dimai, Winfried März, Cristiana Catena, Dirk von Lewinski, Jakob Voelkl, Ioana Alesutan, Astrid Fahrleitner-Pammer, Helmut Brussee, Stefan Pilz, Andreas Tomaschitz
Mineralocorticoid receptor (MR) antagonism may affect bone turnover via direct and indirect pathways involving parathyroid hormone, but randomized controlled trials are lacking. In a pre-specified analysis of the "Eplerenone in primary hyperparathyroidism" placebo-controlled, randomized trial (ISRCTN 33941607), effects of eight weeks MR-blockade with eplerenone on bone turnover markers in 97 patients with primary hyperparathyroidism were tested. Mean age was 67.5±9.5years, and 76 (78.4%) were females. In analysis of covariance with adjustment for baseline values, eplerenone had no significant effect on isoform 5b of the tartrate-resistant acid phosphatase (TRAP), beta-crosslaps, N-terminal propeptide of procollagen type 1 (P1NP), osteocalcin and bone-specific alkaline phosphatase...
September 14, 2017: Bone
https://www.readbyqxmd.com/read/28917827/recommendations-on-the-use-of-neuromonitoring-in-thyroid-and-parathyroid-surgery
#20
José Luis Pardal-Refoyo, Pablo Parente-Arias, Marta María Arroyo-Domingo, Juan Manuel Maza-Solano, José Granell-Navarro, Jesús María Martínez-Salazar, Ramón Moreno-Luna, Elvylins Vargas-Yglesias
INTRODUCTION: Thyroid and parathyroid surgery (TPTS) is associated with risk of injury to the recurrent laryngeal nerve, superior laryngeal nerve and voice changes. Intraoperative neuromonitoring (IONM), intermittent or continuous, evaluates the functional state of the laryngeal nerves and is being increasingly used. This means that points of consensus on the most controversial aspects are necessary. OBJECTIVE: To develop a support document for guidance on the use of IONM in TPTS...
September 14, 2017: Acta Otorrinolaringológica Española
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