International journal of clinical endocrinology and metabolism最新文献

{"title":"Thyrotoxicosis leading to Renal Tubular Acidosis presenting as periodic paralysis – A case report","authors":"Sourya Sourabh Mohakuda, R. Pakhetra, N. Yadav","doi":"10.17352/IJCEM.000039","DOIUrl":"https://doi.org/10.17352/IJCEM.000039","url":null,"abstract":"Periodic fl accid paralysis is related to loss of tone and power transiently and which occurs repeatedly \u0000over time. Etiologies like channelopathies, myasthenia gravis and thyroid disorders are common. There \u0000have been case reports of thyroid disorders leading to periodic paralysis. The pathophysiology attributed \u0000to it is the increased uptake of potassium by the cells in the thyrotoxic state. Thyrotoxicosis is also an \u0000uncommon cause for distal renal tubular acidosis.","PeriodicalId":73435,"journal":{"name":"International journal of clinical endocrinology and metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72591321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hemodynamic and cardiopulmonary structural and functional changes post TIPSS: A review","authors":"G. A. Kumar, Tu Rong Fnag, Tang Ying Mei, Tong Yu Yun","doi":"10.17352/IJCEM.000038","DOIUrl":"https://doi.org/10.17352/IJCEM.000038","url":null,"abstract":"A deep understanding of the cardiopulmonary and hemodynamic changes from acute immediate to chronic long-term in the patients undergoing TIPSS is essential for providing a base for timely intervention to decrease the associated morbidity and mortality in the patients post TIPSS.","PeriodicalId":73435,"journal":{"name":"International journal of clinical endocrinology and metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82973918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Type A Insulin Resistance Syndrome- Novel insulin receptor gene mutation and familiar phenotypic variability","authors":"A. Freire, P. Scaglia, M. Gryngarten, Mariana L. Gutiérrez, A. Arcari, Laura Suarez, M. Ballerini, Laura E. Valinotto, M. Natale, Kenny Y Del Toro Camargo, I. Bergadá, R. Rey, M. Ropelato","doi":"10.17352/IJCEM.000037","DOIUrl":"https://doi.org/10.17352/IJCEM.000037","url":null,"abstract":"Type A Insulin Resistance Syndrome is due to heterozygous mutations in the insulin receptor (INSR) gene or its signaling pathway. \u0000We present a premenarcheal 14 year-old girl with normal BMI, severe hirsutism, acanthosis nigricans, clitoral hypertrophy, deep voice, enlarged polycystic ovaries, severe hyperinsulinemia and biochemical hyperandrogenism. \u0000We identified a novel heterozygous missense variant in the tyrosine kinase domain of INSR (p.Leu1150Pro) and an heterozygous missense variant in SH2B adapter protein 1 involved in the insulin pathway (p.Ala663Val). Interestingly, the patients’ mother and brother had the same INSR mutation although of a milder phenotype, reason why their IR went undiagnosed.","PeriodicalId":73435,"journal":{"name":"International journal of clinical endocrinology and metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82731049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A fatal case of myxedema coma","authors":"FatimaZahraEl Bouazzaoui, I. Boubagura, S. Rafi, G. Mghari, N. Ansari","doi":"10.17352/IJCEM.000036","DOIUrl":"https://doi.org/10.17352/IJCEM.000036","url":null,"abstract":"Myxedema coma is a rare clinical condition that represents severe hypothyroidism decompensation usually occurs in patient with long-standing undiagnosed hypothyroidism and is usually precipitated by infection and discontinuation of supplements treatment.","PeriodicalId":73435,"journal":{"name":"International journal of clinical endocrinology and metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88979280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Maturity Onset Diabetes of the Young: A Rare Monogenic Form of Diabetes","authors":"Mini Kallarackal","doi":"10.17352/ijcem.000034","DOIUrl":"https://doi.org/10.17352/ijcem.000034","url":null,"abstract":"Diabetes Mellitus is a group of metabolic disorders associated with microvascular and macrovascular complications. The rapidly increasing prevalence and incidence of this disease is causing a major worldwide health problem. Maturity onset diabetes of the young (MODY) is a rare monogenic form of diabetes resulting from mutation in a single gene. There are 13 types of MODY genes identified currently. The two main types of MODY is caused by mutations in the hepatocyte nuclear factor 1A and glycolytic enzyme glucokinase (GCK). Genetic testing is the gold standard for diagnosing MODY. It is essential to identify the MODY subtype to determine the management and treatment options.","PeriodicalId":73435,"journal":{"name":"International journal of clinical endocrinology and metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88911444","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Periodontal status at two years of follow-up in patients with Newly Diagnosis of type 2 Diabetes Mellitus","authors":"Arely Saindaleth López Reyes, Eder Patiño-Rivera, A. C. García-Ulloa, S. Hernández-Jiménez","doi":"10.17352/IJCEM.000033","DOIUrl":"https://doi.org/10.17352/IJCEM.000033","url":null,"abstract":"Background: Diabetes increases the risk of periodontal disease. Integrating periodontal care with the treatment of type 2 diabetes (T2DM) may facilitate the management of both diseases. \u0000Aim of the study: To evaluate the periodontal status at two years in patients with T2DM and assess glycated hemoglobin (HbA1c) according to the severity and extension of periodontitis. \u0000Methods: This is a descriptive cohort study. Full-mouth periodontal evaluation was performed and blood samples were obtained to analyze HbA1c at baseline, 3, 12 and 24 months. Clinical attachment level, probing depth, bleeding on probing and oral hygiene were measured. We analyzed mean HbA1c according to severity and extension of periodontitis.","PeriodicalId":73435,"journal":{"name":"International journal of clinical endocrinology and metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80691747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Therapeutic options for advanced thyroid cancer.","authors":"Apoorva Jayarangaiah,&nbsp;Gurinder Sidhu,&nbsp;Jordonna Brown,&nbsp;Odeth Barrett-Campbell,&nbsp;Gul Bahtiyar,&nbsp;Irini Youssef,&nbsp;Shalini Arora,&nbsp;Samara Skwiersky,&nbsp;Samy I McFarlane","doi":"10.17352/ijcem.000040","DOIUrl":"https://doi.org/10.17352/ijcem.000040","url":null,"abstract":"<p><p>Thyroid cancer can be largely classified as well-differentiated, poorly differentiated, medullary and anaplastic. Differentiated thyroid cancer (DTC) includes follicular and papillary subtypes, with the incidence of papillary thyroid cancer (PTC) on the rise. The mainstay of treatment for DTC includes a combination of surgery, radioactive iodine (RAI) and levothyroxine suppression. DTC portends a favorable prognosis, even in the presence of distant metastases, with a 50% rate of 5-year survival largely due to tumor cell's sensitivity to RAI therapy influencing disease outcome. In radioactive iodine refractory differentiated thyroid cancer (RAI-refractory DTC) there is a lower survival rate prompting the use of other therapeutic options available. RAI refractoriness is more common in older patients (age >40), large metastases and lesions that are fluorodeoxyglucose (FDG) avid on position emission tomography (PET). Over the past decade, Identification of genetic mutations in the signaling pathway involved in thyroid tumorigenesis has led to the approval of tyrosine kinase inhibitors (TKIs); Sorafenib and Lenvatinib in RAI-refractory DTC. Similarly, metastatic medullary thyroid cancer (MTC) implies an unfavorable 10-year survival rate of only 20% as the principal treatment options focuses on loco regional control via surgical and/or non-surgical options. The approval of TKIs such as Cabozantinib and Vandetanib has introduced an encouraging, novel, systemic therapeutic option for metastatic MTC. Lastly, anaplastic thyroid cancer (ATC) carries the worst prognosis with high recurrence rates. Treatment includes surgery, chemotherapy and external beam radiation. The FDA recently approved Dabrafenib plus trametinib for BRAF V600E mutated ATC. Considering the modality of chemotherapy and the expanding field of targeted therapies, the role of the oncologist and interaction with endocrinologist in the management of thyroid cancer needs further clarification aiming at collaborative management plans more than ever. This review summarizes the key phase III trials that led to the approval of TKIs in the treatment of DTC and metastatic MTC. Additionally, the review aims to clarify the patient selection criteria for initiation of TKIs and examine the implications, considerations and adverse effects prior to utilizing targeted therapy. Clinical trials are ongoing with promising results and may contribute to the addition of several targeted molecules and immune check point inhibitors to the therapeutic armamentarium for RAI-refractory DTC, medullary and anaplastic thyroid cancer.</p>","PeriodicalId":73435,"journal":{"name":"International journal of clinical endocrinology and metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10534964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ovarian Hyperstimulation Syndrome and Myocardial Infarction: A Systematic Review.","authors":"Mohammed Al-Sadawi,&nbsp;Richi Chowdhury,&nbsp;Seline Asun,&nbsp;Justina Ray,&nbsp;Lina Soni,&nbsp;Gul Bahtiyar,&nbsp;Debora Ponse,&nbsp;Samy I McFarlane","doi":"10.17352/ijcem.000035","DOIUrl":"https://doi.org/10.17352/ijcem.000035","url":null,"abstract":"<p><strong>Background: </strong>Ovarian hyperstimulation syndrome (OHSS) is a rare but serious complication of ovarian stimulation occurring during assisted reproduction technologies (ART). It is characterized by increased vascular permeability and hypercoagulable states resulting in strokes and peripheral ischemia. Acute myocardial infarction and cardiac thrombosis, however, have been rarely reported complications of OHSS.</p><p><strong>Methods: </strong>A literature search was performed for reports on myocardial infarction and cardiac thrombosis associated with ovarian stimulation with a summary of their clinical characteristics.</p><p><strong>Results: </strong>A total of twelve published cases were reviewed with 5 out of 12 (41.67%) of the reported cases were 35 years of age or older. Myocardial infarction was reported in 10 out of the 12 cases (83.3%). Two of the cases were pregnant at presentation (16.67%). The mean duration between starting ovarian stimulation medications and clinical presentation was 23 days. Chest pain was the most common presenting symptom (66.67%), 2 cases presented with stroke (16.67%) and 2 cases presented with abdominal distention (16.67%). A total of 8 patients underwent coronary angiography with 2 of these cases were treated with percutaneous coronary intervention. No mortality reported in any of the twelve cases.</p><p><strong>Conclusion: </strong>Women of a relatively younger age undergoing ovarian stimulation may be at risk for developing myocardial infarction and cardiac thrombosis. Once thrombosis is suspected, initiating appropriate therapy in a timely manner is crucial.</p>","PeriodicalId":73435,"journal":{"name":"International journal of clinical endocrinology and metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9100395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Parathyroid adenoma-An incidental diagnosis","authors":"N. Chatterjee, C. Chatterjee","doi":"10.17352/IJCEM.000032","DOIUrl":"https://doi.org/10.17352/IJCEM.000032","url":null,"abstract":"A 50 year old man was referred to us with inadequate control of blood pressure for last few years. He was being treated as a case of essential hypertension on a four drug regime. Subsequent work up led to the diagnosis of primary hyper parathyroidism due to left inferior parathyroid adenoma.","PeriodicalId":73435,"journal":{"name":"International journal of clinical endocrinology and metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81429402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Two cases of traumatic isolated ACTH deficiency","authors":"Ishizuka Tatsuo","doi":"10.17352/ijcem.000030","DOIUrl":"https://doi.org/10.17352/ijcem.000030","url":null,"abstract":"","PeriodicalId":73435,"journal":{"name":"International journal of clinical endocrinology and metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75684277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}