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Thyrotoxicosis leading to Renal Tubular Acidosis presenting as periodic paralysis – A case report 甲状腺毒症导致肾小管酸中毒,表现为周期性麻痹1例
Pub Date : 2019-07-16 DOI: 10.17352/IJCEM.000039
Sourya Sourabh Mohakuda, R. Pakhetra, N. Yadav
Periodic fl accid paralysis is related to loss of tone and power transiently and which occurs repeatedly over time. Etiologies like channelopathies, myasthenia gravis and thyroid disorders are common. There have been case reports of thyroid disorders leading to periodic paralysis. The pathophysiology attributed to it is the increased uptake of potassium by the cells in the thyrotoxic state. Thyrotoxicosis is also an uncommon cause for distal renal tubular acidosis.
周期性痉挛性麻痹与张力和力量的短暂性丧失有关,并随时间反复发生。病因如经络病,重症肌无力和甲状腺疾病是常见的。有甲状腺疾病导致周期性瘫痪的病例报告。病理生理学归因于在甲状腺中毒状态下细胞对钾的摄取增加。甲状腺毒症也是远端肾小管酸中毒的罕见病因。
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引用次数: 0
Hemodynamic and cardiopulmonary structural and functional changes post TIPSS: A review TIPSS后血液动力学和心肺结构和功能的变化:综述
Pub Date : 2019-07-09 DOI: 10.17352/IJCEM.000038
G. A. Kumar, Tu Rong Fnag, Tang Ying Mei, Tong Yu Yun
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.
深入了解TIPSS患者从急性即刻到慢性长期的心肺和血流动力学变化,为及时干预提供基础,以降低TIPSS后患者的相关发病率和死亡率。
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引用次数: 1
Type A Insulin Resistance Syndrome- Novel insulin receptor gene mutation and familiar phenotypic variability A型胰岛素抵抗综合征-新的胰岛素受体基因突变和熟悉的表型变异性
Pub Date : 2019-06-13 DOI: 10.17352/IJCEM.000037
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
Type A Insulin Resistance Syndrome is due to heterozygous mutations in the insulin receptor (INSR) gene or its signaling pathway. We 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. We 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.
A型胰岛素抵抗综合征是由胰岛素受体(INSR)基因或其信号通路的杂合突变引起的。我们报告一个14岁的初潮前女孩,BMI正常,严重多毛,黑棘皮症,阴蒂肥大,声音低沉,多囊卵巢肿大,严重高胰岛素血症和生化高雄激素症。我们在INSR的酪氨酸激酶结构域发现了一个新的杂合错义变体(p.l u1150pro),在参与胰岛素通路的SH2B适配器蛋白1中发现了一个杂合错义变体(p.a ala663val)。有趣的是,患者的母亲和兄弟有相同的INSR突变,尽管表型较轻,这就是为什么他们的IR未被诊断出来的原因。
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引用次数: 1
A fatal case of myxedema coma 黏液水肿昏迷1例死亡
Pub Date : 2019-05-02 DOI: 10.17352/IJCEM.000036
FatimaZahraEl Bouazzaoui, I. Boubagura, S. Rafi, G. Mghari, N. Ansari
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.
黏液性水肿昏迷是一种罕见的临床症状,它代表严重的甲状腺功能减退,代偿失调通常发生在长期未确诊的甲状腺功能减退患者中,通常由感染和停止补充治疗引起。
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引用次数: 0
Maturity Onset Diabetes of the Young: A Rare Monogenic Form of Diabetes 青少年成熟型糖尿病:一种罕见的单基因型糖尿病
Pub Date : 2019-02-12 DOI: 10.17352/ijcem.000034
Mini Kallarackal
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.
糖尿病是一组与微血管和大血管并发症相关的代谢紊乱。这种疾病的流行率和发病率迅速增加,正在造成一个重大的世界卫生问题。成熟型糖尿病(MODY)是一种罕见的由单个基因突变引起的单基因糖尿病。目前已鉴定的MODY基因有13种。MODY的两种主要类型是由肝细胞核因子1A和糖酵解酶葡萄糖激酶(GCK)的突变引起的。基因检测是诊断MODY的黄金标准。确定MODY亚型对于确定管理和治疗方案至关重要。
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引用次数: 0
Periodontal status at two years of follow-up in patients with Newly Diagnosis of type 2 Diabetes Mellitus 新诊断2型糖尿病患者2年随访时牙周状况
Pub Date : 2019-02-11 DOI: 10.17352/IJCEM.000033
Arely Saindaleth López Reyes, Eder Patiño-Rivera, A. C. García-Ulloa, S. Hernández-Jiménez
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. Aim 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. Methods: 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.
背景:糖尿病会增加患牙周病的风险。将牙周护理与2型糖尿病(T2DM)的治疗相结合,可能有助于这两种疾病的治疗。研究目的:评估2型糖尿病患者两年时的牙周状况,并根据牙周炎的严重程度和扩展程度评估糖化血红蛋白(HbA1c)。方法:这是一项描述性队列研究。在基线、3个月、12个月和24个月进行全口牙周评估并采集血样分析HbA1c。测量临床依恋水平、探诊深度、探诊出血及口腔卫生状况。我们根据牙周炎的严重程度和扩展程度分析平均糖化血红蛋白。
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引用次数: 0
Therapeutic options for advanced thyroid cancer. 晚期甲状腺癌的治疗选择。
Pub Date : 2019-01-01 DOI: 10.17352/ijcem.000040
Apoorva Jayarangaiah, Gurinder Sidhu, Jordonna Brown, Odeth Barrett-Campbell, Gul Bahtiyar, Irini Youssef, Shalini Arora, Samara Skwiersky, Samy I McFarlane

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.

甲状腺癌可分为高分化癌、低分化癌、髓样癌和间变性癌。分化型甲状腺癌(DTC)包括滤泡型和乳头状型亚型,其中乳头状甲状腺癌(PTC)的发病率呈上升趋势。DTC的主要治疗包括手术、放射性碘(RAI)和左旋甲状腺素抑制的联合治疗。即使存在远处转移,DTC也预示着良好的预后,50%的5年生存率主要是由于肿瘤细胞对RAI治疗的敏感性影响疾病结局。在放射性碘难治性分化甲状腺癌(rai -难治性DTC)中,生存率较低,促使使用其他可用的治疗方案。RAI难治性更常见于老年患者(>40岁)、大转移灶和位置发射断层扫描(PET)显示氟脱氧葡萄糖(FDG)的病变。在过去的十年中,在甲状腺肿瘤发生的信号通路中基因突变的鉴定导致酪氨酸激酶抑制剂(TKIs)的批准;索拉非尼和Lenvatinib治疗rai难治性DTC。同样,转移性甲状腺髓样癌(MTC)的10年生存率仅为20%,因为主要的治疗选择侧重于通过手术和/或非手术选择进行局部控制。tki如Cabozantinib和Vandetanib的批准为转移性MTC提供了一种令人鼓舞的、新颖的系统性治疗选择。最后,间变性甲状腺癌(ATC)预后最差,复发率高。治疗方法包括手术、化疗和外部放射治疗。FDA最近批准Dabrafenib + trametinib治疗BRAF V600E突变ATC。考虑到化疗的方式和靶向治疗领域的扩大,肿瘤学家在甲状腺癌管理中的作用以及与内分泌学家的互动需要进一步明确,针对协作管理计划比以往任何时候都更重要。本综述总结了导致TKIs被批准用于治疗DTC和转移性MTC的关键III期试验。此外,该综述旨在阐明启动tki的患者选择标准,并检查使用靶向治疗之前的影响、注意事项和不良反应。临床试验正在进行中,结果令人鼓舞,并可能有助于将几种靶向分子和免疫检查点抑制剂添加到rai难治性DTC、髓样和间变性甲状腺癌的治疗方案中。
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引用次数: 31
Ovarian Hyperstimulation Syndrome and Myocardial Infarction: A Systematic Review. 卵巢过度刺激综合征与心肌梗死:系统综述。
Pub Date : 2019-01-01 DOI: 10.17352/ijcem.000035
Mohammed Al-Sadawi, Richi Chowdhury, Seline Asun, Justina Ray, Lina Soni, Gul Bahtiyar, Debora Ponse, Samy I McFarlane

Background: 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.

Methods: A literature search was performed for reports on myocardial infarction and cardiac thrombosis associated with ovarian stimulation with a summary of their clinical characteristics.

Results: 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.

Conclusion: 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.

背景:卵巢过度刺激综合征(OHSS)是辅助生殖技术(ART)中卵巢刺激引起的一种罕见但严重的并发症。其特点是血管通透性增加和高凝状态,导致中风和外周缺血。然而,急性心肌梗死和心脏血栓形成很少被报道为OHSS的并发症。方法:对卵巢刺激引起的心肌梗死和心脏血栓形成进行文献检索,总结其临床特点。结果:共回顾12例已发表病例,12例中有5例(41.67%)年龄≥35岁。12例患者中有10例(83.3%)发生心肌梗死。2例患者就诊时已怀孕(16.67%)。从开始使用卵巢刺激药物到临床表现的平均时间为23天。以胸痛为主(66.67%),以脑卒中为主(16.67%),以腹胀为主(16.67%)。8例患者行冠状动脉造影,其中2例行经皮冠状动脉介入治疗。12例病例均无死亡报告。结论:相对年轻的女性接受卵巢刺激可能有发生心肌梗死和心脏血栓的风险。一旦怀疑血栓形成,及时开始适当的治疗至关重要。
{"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}
引用次数: 6
Parathyroid adenoma-An incidental diagnosis 甲状旁腺瘤——偶然诊断
Pub Date : 2018-12-18 DOI: 10.17352/IJCEM.000032
N. Chatterjee, C. Chatterjee
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.
一位50岁的男性因近几年来血压控制不佳而来就诊。他被当作原发性高血压患者接受四种药物治疗。随后的工作导致诊断原发性甲状旁腺功能亢进由于左下甲状旁腺瘤。
{"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}
引用次数: 0
Two cases of traumatic isolated ACTH deficiency 外伤性孤立性ACTH缺乏2例
Pub Date : 2018-10-30 DOI: 10.17352/ijcem.000030
Ishizuka Tatsuo
{"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}
引用次数: 1
期刊
International journal of clinical endocrinology and metabolism
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