Endocrinology&Metabolism International Journal最新文献_第2页

Hypophosphatasia screening in pediatric age based on records 基于记录的儿童低磷酸症筛查

Endocrinology&Metabolism International Journal Pub Date : 2021-02-15 DOI: 10.15406/EMIJ.2021.09.00300

O. Villate, I. Díez-Lopez, L. Aldámiz-Echevarría, F. Andrade, P. Suárez, D. González-Lamuño, M. Unceta, Arantza Arza, María del Mar Rovira

{"title":"Hypophosphatasia screening in pediatric age based on records","authors":"O. Villate, I. Díez-Lopez, L. Aldámiz-Echevarría, F. Andrade, P. Suárez, D. González-Lamuño, M. Unceta, Arantza Arza, María del Mar Rovira","doi":"10.15406/EMIJ.2021.09.00300","DOIUrl":"https://doi.org/10.15406/EMIJ.2021.09.00300","url":null,"abstract":"Introduction: hypophosphatasia (HPP) is a congenital disease, characterized by a defect in bone and dentary mineralization, secondary to a deficiency in the biosynthesis of non-specific tissue isoenzyme of alkaline phosphatase (TNSALP), resulting in decreased levels of alkaline phosphatase (ALP) activity and the extracellular accumulation of its substrates. Our goal was to establish the interest of screening the hospital databases of pediatric patients with low levels of ALP for the diagnosis of HPP. Materials and methods: during the period from September 2016 to September 2017, 23231 patients were tested for ALP, 1752 of them showed low levels of ALP. Based on the clinic, basal disease and that in previous analyses they did not present ALT norm values, 14 cases were selected: 8 cases associated with early puberty, 1 case of low size, 1 case of liver disease and myasthenia and 1 case of teething problems. ALPL gene was studied in those cases. Results: the latter case was of an 8-year-old male with a pathological variant of HPP: c.343_348dupACCGCC (p.Thr115_Ala116dup) in exon 5 in dominant heterozygous, inherited from his mother. At the substrate level the levels of pyridoxal-5-phosphate were above 50μg/L. Conclusion: the diagnostic strategy with a high index of clinical suspicion of HPP should include the observation of low levels of serum ALP activity. Our study shows that HPP is an underdiagnosed disease.An appropriate protocol to detect HPP in a clinical setting in tertiary care hospitals is required.","PeriodicalId":272684,"journal":{"name":"Endocrinology&Metabolism International Journal","volume":"100 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132813224","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

Appropriate management for patients with cytologically Bethesda indeterminate thyroid nodules 细胞学Bethesda不确定甲状腺结节患者的适当处理

Endocrinology&Metabolism International Journal Pub Date : 2021-02-10 DOI: 10.15406/EMIJ.2021.09.00299

R. García-mayor

引用次数: 0

Alcohol consumption and the incidence of type 2 diabetic mellitus: “issue that requires more attention” 饮酒与2型糖尿病的发病率:需要更多关注的问题

Endocrinology&Metabolism International Journal Pub Date : 2021-01-08 DOI: 10.15406/EMIJ.2021.08.00298

Addisu Dabi Wake

引用次数: 0

Persistent risk: psychological comorbidity in polycystic ovary syndrome 持续风险:多囊卵巢综合征的心理合并症

Endocrinology&Metabolism International Journal Pub Date : 2020-12-31 DOI: 10.15406/EMIJ.2020.08.00297

Mohadetheh Moulana PhD

引用次数: 1

Polycystic ovary syndrome and increased risk of psychiatric disorders 多囊卵巢综合征和精神疾病风险增加

Endocrinology&Metabolism International Journal Pub Date : 2020-12-29 DOI: 10.15406/EMIJ.2020.08.00296

Mohadetheh Moulana PhD, Anju P Sukumaran MD

{"title":"Polycystic ovary syndrome and increased risk of psychiatric disorders","authors":"Mohadetheh Moulana PhD, Anju P Sukumaran MD","doi":"10.15406/EMIJ.2020.08.00296","DOIUrl":"https://doi.org/10.15406/EMIJ.2020.08.00296","url":null,"abstract":"Aim: This study is aimed to assess, for the first time the prevalence of polycystic ovary syndrome (PCOS) and associated psychological disorders among women at reproductive age in Mississippi. Methods: The data was collected through “the Patient Cohort Explorer” system at the University of Mississippi Medical Center (UMMC) from January 2013 to December 2018. De-identified patients were searched with diagnosis code for PCOS, age, ethnicity, and associated diagnosis including weight gain, anxiety, depression, attention-deficit/hyperactivity disorder (ADHD), and other psychological concerns. Results: Collected data from 166,748 females (19-45 years) showed 1.4% (95% CI: 1.32 – 1.44) prevalence of PCOS in women seen in UMMC clinics during the period of study. Almost 51% of patients with PCOS suffered from one or more psychological disorders; anxiety 21% (95% CI: 19.3 – 22.6), depression 20% (95% CI: 18.9 – 22.1), ADHD 3.2% (95% CI: 2.6 – 4.0), and bipolar disorder 2.5% (95% CI: 1.9 – 3.2). In addition, prevalence values suggest a positive correlation between obesity, anxiety, and depression in PCOS patients. Conclusion: Results from this study provide 1) for the first time an estimate regarding the prevalence of PCOS and associated psychological disorders in women with PCOS in a Mississippi, 2) associated psychological disorders in PCOS women may be diverse based on race and ethnicity. Our data clearly highlight that the psychological well-being of women with PCOS are affected. Therefore, it is critical for the primary care and specialty clinics to use appropriate psychological screenings. Left undiagnosed and/or untreated, chronic psychological disorders may exacerbate physical and mental health conditions.","PeriodicalId":272684,"journal":{"name":"Endocrinology&Metabolism International Journal","volume":"90 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124612970","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

Eruptive xanthomas, lipemia retinalis in a lean young female patient with new onset diabetes mellitus and hypertriglyceredemia 新发糖尿病和高脂血症的年轻女性患者的突发性黄瘤，视网膜脂血症

Endocrinology&Metabolism International Journal Pub Date : 2020-12-08 DOI: 10.15406/EMIJ.2020.08.00295

Asad Ullah, S. Ali

引用次数: 0

Acromegaly and testicular seminoma: a rare association 肢端肥大症和睾丸精原细胞瘤:罕见的关联

Endocrinology&Metabolism International Journal Pub Date : 2020-10-30 DOI: 10.15406/EMIJ.2020.08.00293

A. L, E. H., I. A, M. A., Essadi Ismail, A. A., B. H

引用次数: 0

Clinical profiles of thyroid dermopathy: a dermato-endocrinology minireview 甲状腺皮肤病的临床概况:皮肤内分泌学综述

Endocrinology&Metabolism International Journal Pub Date : 2020-10-30 DOI: 10.15406/EMIJ.2020.08.00294

T. Azeez, Ayobami Chioma Egbu

{"title":"Clinical profiles of thyroid dermopathy: a dermato-endocrinology minireview","authors":"T. Azeez, Ayobami Chioma Egbu","doi":"10.15406/EMIJ.2020.08.00294","DOIUrl":"https://doi.org/10.15406/EMIJ.2020.08.00294","url":null,"abstract":"Background: Thyroid disorders sometimes have extra-thyroidal manifestations. Hyperthyroidism is a clinical syndrome resulting from excessive secretion of thyroid hormones. The commonest cause is Graves’ disease. About 0.5 – 4.3% of patients with Graves’ disease have an infiltrative dermopathy called thyroid dermopathy. It is due to excessive deposition of glycosaminoglycans from activated fibroblasts. Skin fibroblasts are activated by thyroid stimulating hormone receptor antibodies and the whole process is initiated by T lymphocytes. Thyroid dermopathy is rarely also found in other thyroid disorders such as Hashimoto thyroiditis. The diffuse non-pitting oedema variant is the commonest clinical presentation. Other variants include the nodular, plaque, mixed and elephantiasis types. The main concerns of the patients usually are cosmetic, discomfort and difficulty in wearing shoes. Thyroid dermopathy usually presents after the diagnosis of Graves diseases but it may present together or sometime after. Rarely, thyroid dermopathy presents before the diagnosis of Graves’ disease is made. Apart from the shin and feet, other sites that can be affected include arms, forearms, back, thighs, pinna and nose. Conclusion: The management is multidisciplinary, involving Dermatologists and Endocrinologists. Usually, controlling the thyroid dysfunction does not translate into regression of the skin lesion. However, many patients have their thyroid dermopathy regressing spontaneously while others usually require local therapy. Other therapeutic options include systemic therapy such as pentoxifylline, compressive physiotherapy and surgery.","PeriodicalId":272684,"journal":{"name":"Endocrinology&Metabolism International Journal","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116701785","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

A case report of recurrent uterovaginal prolapse and cervical elongation in anulliparous female with a distorted Pelvis 一例报告复发性子宫阴道脱垂和宫颈伸长的无产子女性与扭曲的骨盆

Endocrinology&Metabolism International Journal Pub Date : 2020-10-28 DOI: 10.15406/EMIJ.2020.08.00291

N. Hameed, Binyamin Butt, Rabia Jamshaid

引用次数: 0

HMGB1: a potential target of controlling pulmonary inflammation in people living with HIV HMGB1:控制HIV感染者肺部炎症的潜在靶点

Endocrinology&Metabolism International Journal Pub Date : 2020-10-28 DOI: 10.15406/EMIJ.2020.08.00292

Li Wang, Yu-Wen Ding

{"title":"HMGB1: a potential target of controlling pulmonary inflammation in people living with HIV","authors":"Li Wang, Yu-Wen Ding","doi":"10.15406/EMIJ.2020.08.00292","DOIUrl":"https://doi.org/10.15406/EMIJ.2020.08.00292","url":null,"abstract":"AIDS combined with pulmonary infection is one of the most common diseases in opportunistic infections, accounting for 50%-69.6% of opportunistic infections.2 The pathogenic microorganismincludes bacteria, fungi, Pneumocystis carinii, Mycobacterium, cytomegalovirus (CMV), etc.CD4+T lymphocytes of HIV-infected patients are progressively reduced or even disappeared, leading to cellular immune deficiency and increasing the probability of lung infection.Pulmonary opportunistic infections were rarely seen in patients with CD4+T lymphocytes >500/mm3.When CD4+T lymphocytes were >350/mm3, the clinical symptoms were similar to those of ordinary pulmonary tuberculosis patients.However, when CD4+T lymphocytes <200/ mm3, they were susceptible to Pneumocystis carinii, CMV, fungi, bacteria and mycobacterium atypia.There are many different kinds of lung infection, such as pneumocystis carinii pneumonia (PCP), CMV pneumonia, toxoplasma infection,tuberculosis, atypical mycobacteria disease and candida pneumonia etc. Among these infections, PCP and tuberculosisoccur more frequently, they often exist as one or more pathogenic microorganism. These infections develop fast, bring to clinical diagnosis and treatment of great difficulties, to become one of the leading causes of death among AIDS patients.3,4","PeriodicalId":272684,"journal":{"name":"Endocrinology&Metabolism International Journal","volume":"2013 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129945286","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