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Hypoparathyroid

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https://www.readbyqxmd.com/read/28524840/a-novel-de-novo-gata-binding-protein-3-mutation-in-a-patient-with-hypoparathyroidism-sensorineural-deafness-and-renal-dysplasia-syndrome
#1
Xue-Ying Chu, Yue-Peng Li, Min Nie, Ou Wang, Yan Jiang, Mei Li, Wei-Bo Xia, Xiao-Ping Xing
No abstract text is available yet for this article.
June 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28515471/clinical-and-molecular-investigation-of-14-japanese-patients-with-complete-tfp-deficiency-a-comparison-with-caucasian-cases
#2
Ryosuke Bo, Kenji Yamada, Hironori Kobayashi, Purevsuren Jamiyan, Yuki Hasegawa, Takeshi Taketani, Seiji Fukuda, Ikue Hata, Yo Niida, Yosuke Shigematsu, Kazumoto Iijima, Seiji Yamaguchi
Mitochondrial trifunctional protein (TFP) deficiency is an inherited metabolic disorder of mitochondrial fatty-acid oxidation. Isolated long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is often reported in Caucasian countries due to a common mutation. However, the molecular and clinical basis of complete TFP deficiency has not been extensively reported. In this study, 14 Japanese cases (13 families) with complete TFP deficiency, including 9 previously reported cases, were analyzed to clarify the clinical and molecular characteristics of TFP deficiency...
May 18, 2017: Journal of Human Genetics
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
#3
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/28506418/timing-and-extension-of-lymphadenectomy-in-medullary-thyroid-carcinoma-a-case-series-from-a-single-institution
#4
Andrea Polistena, Alessandro Sanguinetti, Roberta Lucchini, Sergio Galasse, Massimo Monacelli, Stefano Avenia, Andrea Boccolini, Louis Banka Johnson, Nicola Avenia
BACKGROUND: Medullary thyroid carcinoma is an aggressive tumor and presents with significant morbidity and mortality and a high rate of lymph node metastases. The combination of total thyroidectomy and cervical lymphadenectomy is the essential treatment for those patients presenting with cervical lymph node metastases. MATERIALS AND METHODS: A retrospective analysis of 117 patients operated for medullary thyroid carcinoma over a period of 15 years at a single institution...
May 2017: International Journal of Surgery
https://www.readbyqxmd.com/read/28501106/concurrent-endocrine-and-other-surgical-procedures-an-institutional-experience
#5
Rachel Morris, Tina W F Yen, Kara Doffek, Azadeh A Carr, Stuart D Wilson, Douglas B Evans, Tracy S Wang
INRODUCTION: The number of endocrine procedures, specifically parathyroidectomy, thyroidectomy, and adrenalectomy, being performed is increasing. There is a paucity of literature on the feasibility of combining these procedures with other surgical procedures. Therefore, the aim of this study was to determine the effect of performing concurrent surgical procedures on postoperative outcomes. METHODS: This is a single institution retrospective review of multiple prospectively maintained databases of patients who underwent elective thyroidectomy, parathyroidectomy, and/or adrenalectomy in combination with another procedure...
May 1, 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/28493593/superior-parathyroid-gland-approach-to-the-recurrent-laryngeal-nerve
#6
Ezzeddin Elsheikh
BACKGROUND: The superior parathyroid gland is known to be almost constant in its location under the false thyroid capsule. Could it be a landmark to point to the site of incision of the false thyroid capsule and find the plane of the recurrent laryngeal nerve (RLN) during thyroidectomy? METHODS: The study included 48 patients with benign goiter scheduled for hemithyroidectomy or total thyroidectomy; there were 16 cases of solitary thyroid nodules, 27 cases of multinodular goiter, and 5 cases of toxic goiter...
May 11, 2017: Head & Neck
https://www.readbyqxmd.com/read/28492904/screening-for-thyroid-cancer-updated-evidence-report-and-systematic-review-for-the-us-preventive-services-task-force
#7
Jennifer S Lin, Erin J Aiello Bowles, Selvi B Williams, Caitlin C Morrison
Importance: The incidence of detected thyroid cancer cases has been increasing in the United States since 1975. The majority of thyroid cancers are differentiated cancers with excellent prognosis and long-term survival. Objective: To systematically review the benefits and harms associated with thyroid cancer screening and treatment of early thyroid cancer in asymptomatic adults to inform the US Preventive Services Task Force. Data Sources: Searches of MEDLINE, PubMed, and the Cochrane Central Register of Controlled Trials for relevant studies published from January 1966 through January 2016, with active surveillance through December 2016...
May 9, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28474427/robotic-thyroidectomy-and-parathyroidectomy-an-initial-experience-with-retroauricular-approach
#8
Mohammed Alshehri, Hossam Eldin Mohamed, Thomas Moulthrop, Emad Kandil
BACKGROUND: New approaches for robotic-assisted thyroidectomy were recently described. The purpose of this study was to present the report of our initial experience using a retroauricular approach for thyroid and parathyroid surgeries. METHODS: This is a prospective study that was conducted under institutional review board approval and all surgeries were performed by a single surgeon at a North American academic institution. Some patients underwent an additional concomitant neck lift surgery in addition to the thyroid surgery...
May 5, 2017: Head & Neck
https://www.readbyqxmd.com/read/28460061/population-based-assessment-of-complications-following-surgery-for-thyroid-cancer
#9
Maria Papaleontiou, David T Hughes, Cui Guo, Mousumi Banerjee, Megan R Haymart
Context: As thyroid cancer incidence rises, more patients undergo thyroid surgery. Although post-operative complication rates have been reported in single institution studies, population-based data is limited. Objective: Determine thyroid cancer surgery complication rates and identify at-risk populations. Design/Setting/Patients: Using the Surveillance, Epidemiology, and End Results-Medicare database, we evaluated general complications within 30 days and thyroid surgery specific complications within one year in 27,912 patients who underwent surgery for differentiated or medullary thyroid cancer between 1998-2011...
April 28, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28458664/childhood-polyarthritis-as-early-manifestation-of-autoimmune-polyendocrinopathy-with-candidiasis-and-ectodermal-dystrophy-syndrome
#10
Maria J Gutierrez, Julieta Gilson, Jamie Zacharias, Faoud Ishmael, C April Bingham
Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) is a rare disorder of immune dysregulation caused by mutations in the autoimmune regulator (AIRE) gene. Individuals affected with APECED develop a clinical syndrome characterized by ectodermal abnormalities, autoantibody production, and organ-specific autoimmune manifestations. Inflammatory arthritis is usually not described as a part of the syndrome, and only sporadic cases are reported. We describe the case of a preschool-age girl who presented with hypoparathyroidism, hepatitis, interstitial pneumonitis, and chronic polyarthritis at 4 years of age and was found to have two compound heterozygous disease-associated mutations in the AIRE gene...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28454667/optimal-extent-of-prophylactic-central-neck-dissection-for-papillary-thyroid-carcinoma-comparison-of-unilateral-versus-bilateral-central-neck-dissection
#11
Han Seok Yoo, Myung Chul Shin, Yong Bae Ji, Chang Myeon Song, Seung Hwan Lee, Kyung Tae
OBJECTIVE: The aim of the study was to determine the optimal extent of prophylactic central neck dissection (pCND) in papillary thyroid carcinoma (PTC). MATERIALS AND METHODS: We studied 384 patients with clinically node-negative unilateral PTC who had undergone total thyroidectomy with pCND. Of these, 169 patients underwent unilateral pCND, and 215, bilateral pCND. RESULTS: Age, sex, and TNM stage did not differ between the two groups. The rates of occult central lymph node metastasis were 34...
April 25, 2017: Asian Journal of Surgery
https://www.readbyqxmd.com/read/28450981/-fahr-syndrome-secondary-to-primary-hypoparathyroidism-about-a-case
#12
Fatima El Boukhrissi, Ghizlane Zoulati, Issam En-Nafaa, Hassan Ouleghzal, Sara Derrou, Soumaya Safi, Youssef Bamou, Lhoussine Balouch
Fahr syndrome is a rare anatomo-clinic disease whose most common cause is primary or postoperative hypoparathyroidism. It is characterized by bilateral and symmetrical intracerebral calcifications located in the central gray nuclei, most often associated with phosphocalcium metabolism disorders. We here report the case of a 54-year old patient who had been treated for primary hypoparathyroidism for 20 years, presenting with amnesic disorders revealing Fahr syndrome secondary to hypoparathyroidism.
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28446514/autoimmune-polyendocrine-syndrome-type-1-in-an-indian-cohort-a-longitudinal-study
#13
Ghazala Zaidi, Vijayalakshmi Bhatia, Saroj Sahoo, Aditya Narayan Sarangi, Niharika Bharti, Li Zhang, Liping Yu, Daniel Eriksson, Sophie Bensing, Olle Kämpe, Nisha Bhavani, Surender K Yachha, Anil Bhansali, Alok Sachan, Vandana Jain, Nalini Shah, Rakesh Aggarwal, Amita Aggarwal, Muthuswany Srinivasan, Sarita Agarwal, Eesh Bhatia
OBJECTIVE: Autoimmune polyendocrine syndrome type 1 (APS 1) is a rare autosomal recessive disorder characterized by progressive organ-specific autoimmunity. There is scant information on APS1 in ethnic groups other than European Caucasians. We studied clinical aspects and autoimmune regulator (AIRE) gene mutations in a cohort of Indian APS1 patients. DESIGN: Twenty-three patients (19 families) from six referral centres in India, diagnosed between 1996-2016, were followed for [median (range)] 4 (0...
April 26, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28444664/endocrine-complications-of-surgical-treatment-of-thyroid-cancer-an-update
#14
Pedro Iglesias, Juan José Díez
Postoperative hypoparathyroidism (HypoPT) and hypothyroidism (HypoT) are the main endocrine complications after the surgical treatment for thyroid cancer. Postsurgical HypoPT can be transient, protracted or permanent. Its frequency varies according to the underlying cervical pathology, surgical technique, and mainly the experience of the surgeon. Risk factors for HypoPT include aggressiveness of the tumor, extent of surgery, the presence of parathyroid gland in the pathologic specimen, and surgeon experience...
April 25, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28444561/a-rare-variant-in-the-fhl1-gene-associated-with-x-linked-recessive-hypoparathyroidism
#15
Nir Pillar, Oren Pleniceanu, Mingyan Fang, Limor Ziv, Einat Lahav, Shay Botchan, Le Cheng, Benjamin Dekel, Noam Shomron
Isolated familial hypoparathyroidism is an extremely rare disorder, which to date has been linked to several loci including mutations in CASR, GCM2, and PTH, as well as a rare condition defined as X-linked recessive hypoparathyroidism, previously associated with a 1.5 Mb region on Xq26-q27. Here, we report a patient with hypocalcemia-induced seizures leading to the diagnosis of primary hypoparathyroidism. Mutations in CASR, GCM2, and PTH were ruled out, while whole exome sequencing of the family suggested FHL1, located on chromosome Xq26, as the most likely causative gene variant (FHL1, exon 4, c...
April 25, 2017: Human Genetics
https://www.readbyqxmd.com/read/28441802/-central-compartment-reoperation-for-recurrent-persistent-differentiated-thyroid-cancer
#16
Y B Zhang, B Zhang, D G Yan, X W Zhang, Z G Xu, P Z Tang
Objective: To analyze the incidences of complications after central compartment reoperation for recurrent/persistent differentiated thyroid cancer, and to investigate the safety and feasiblity of central compartment reoperation. Methord: A total of 109 patients who underwent central compartment reoperation for recurrent/persistent differentiated thyroid cancer from January 1, 2011 to March 31, 2016 in Cancer Hospital, Chinese Academy of Medical Sciences was analysed retrospectively, and the incidences of reoperation-related complications were evaluated...
April 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28433099/other-organ-involvement-and-clinical-aspects-of-wilson-disease
#17
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
#18
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
#19
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
#20
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
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