Avicenna Journal of Medicine最新文献

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Zinc, Magnesium, and Copper Levels in Patients with Sickle Cell Disease: A Systematic Review and Meta-analysis. 镰状细胞病患者的锌、镁和铜水平:系统回顾和荟萃分析
Avicenna Journal of Medicine Pub Date : 2022-07-02 eCollection Date: 2022-04-01 DOI: 10.1055/s-0042-1749612
Ibrahim H Elkhidir, Shahd S Ali, Waad K Ali, Hind R Madani, Rawya A Basheir, Rayan M Altayeb, Rayan H S Shazali, Safaa Fadlelmoula, Wisal M Eltayeb, Zeina I Omar, Mahmoud Elnil, Sagad O O Mohamed
{"title":"Zinc, Magnesium, and Copper Levels in Patients with Sickle Cell Disease: A Systematic Review and Meta-analysis.","authors":"Ibrahim H Elkhidir,&nbsp;Shahd S Ali,&nbsp;Waad K Ali,&nbsp;Hind R Madani,&nbsp;Rawya A Basheir,&nbsp;Rayan M Altayeb,&nbsp;Rayan H S Shazali,&nbsp;Safaa Fadlelmoula,&nbsp;Wisal M Eltayeb,&nbsp;Zeina I Omar,&nbsp;Mahmoud Elnil,&nbsp;Sagad O O Mohamed","doi":"10.1055/s-0042-1749612","DOIUrl":"https://doi.org/10.1055/s-0042-1749612","url":null,"abstract":"<p><p><b>Background</b>  Sickle cell disease (SCD) is associated with oxidative stress due to an imbalance between production and elimination of the reactive oxygen species. It has been reported that SCD patients are at risk of multiple micronutrients' deficiencies, including several trace elements involved in the antioxidation mechanisms. We aimed to assess the status of these micronutrients in SCD patients. <b>Methods</b>  This study was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines. The databases of MedLine, Embase, and PsycInfo were used for the systematic search from time the databases existed until April 2021. A total of 36 studies fulfilled the eligibility criteria. We calculated the pooled standardized mean difference (SMD) of serum zinc, magnesium, or copper levels among patients with SCD and their healthy controls. <b>Results</b>  SCD patients had significantly lower zinc (SMD = -1.27 [95% CI: 1.67-0.87, <i>p</i> 0.001]) and magnesium levels (SMD = -0.53 [95% CI: 1.0-0.06, <i>p</i> 0.026] than their controls. Copper level was found to be significantly higher in SCD patients, with SMD = 0.68 (95% CI: 0.05-1.32, <i>p</i> 0.004). <b>Conclusion</b>  This review showed that SCD patients may potentially prompt to have lower zinc and magnesium levels and higher copper levels compared with those without the disease. Future research need to be directed to investigate clinical outcome of nutritional difficiencies in patients with SCD, as well as the possibility of implementing nutritional supplement programs which may help minimizing the harmful effects of the disease on human body.</p>","PeriodicalId":32889,"journal":{"name":"Avicenna Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9a/ab/10-1055-s-0042-1749612.PMC9272455.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40592250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Loperamide-Induced Ventricular Tachycardia Storm. 洛哌丁胺诱发室性心动过速风暴。
Avicenna Journal of Medicine Pub Date : 2022-06-22 eCollection Date: 2022-04-01 DOI: 10.1055/s-0042-1749628
William Giesing, Cameron Koester, Mohammad Al-Akchar, Abhishek Kulkarni, Mohamed Labedi
{"title":"Loperamide-Induced Ventricular Tachycardia Storm.","authors":"William Giesing,&nbsp;Cameron Koester,&nbsp;Mohammad Al-Akchar,&nbsp;Abhishek Kulkarni,&nbsp;Mohamed Labedi","doi":"10.1055/s-0042-1749628","DOIUrl":"https://doi.org/10.1055/s-0042-1749628","url":null,"abstract":"<p><p>Loperamide is an over-the-counter antilaxative medication with minor opioid properties. For this reason, it has recently become a drug of concern for the Food and Drug Administration due to its potential for abuse. In addition, further apprehension pertaining to its over-the-counter availability has developed due to the recent increase in reported cases of loperamide overdose or prolonged use leading to arrhythmias. We described a rare case of loperamide-induced ventricular tachycardia storm.</p>","PeriodicalId":32889,"journal":{"name":"Avicenna Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/35/ae/10-1055-s-0042-1749628.PMC9272451.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40615300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Low-Grade Fibromyxoid Sarcoma Featuring an Unusual EWSR1-CREB3L2 Gene Fusion: Report of a Rare Case Arising in the Parotid Gland. 以罕见EWSR1-CREB3L2基因融合为特征的低级别纤维黏液样肉瘤:腮腺罕见病例报告。
Avicenna Journal of Medicine Pub Date : 2022-06-21 eCollection Date: 2022-04-01 DOI: 10.1055/s-0042-1749611
Doaa M Alayed, Majed M Pharaon
{"title":"Low-Grade Fibromyxoid Sarcoma Featuring an Unusual <i>EWSR1-CREB3L2</i> Gene Fusion: Report of a Rare Case Arising in the Parotid Gland.","authors":"Doaa M Alayed,&nbsp;Majed M Pharaon","doi":"10.1055/s-0042-1749611","DOIUrl":"https://doi.org/10.1055/s-0042-1749611","url":null,"abstract":"<p><p>Low-grade fibromyxoid sarcoma (LGFMS), also known as Evan's tumor, is a fibroblastic tumor with a deceptively bland morphology but a high metastasizing potential and late recurrence. It presents clinically as a slowly growing mass in the deep soft tissue of extremities and trunk. Morphologically, it shows a biphasic pattern with alternating fibrous and myxoid areas, whorling growth pattern, hypocellularity, and bland fibroblasts with curvilinear or arcuate vessels in between. Collagen rosettes with central hyalinization is a helpful feature but not specific. MUC-4 is the most sensitive immunostain in LGFMS. The majority of cases harbor a gene fusion in <i>FUS</i> - <i>CREB3L2.</i> Herein, we present a 23-year-old female patient with a slow growing painless mass in the left parotid gland, which was later diagnosed as LGFMS. Involvement of the head and neck region by LGFMS is uncommonly encountered. To date, only two cases within the parotid gland have been described.</p>","PeriodicalId":32889,"journal":{"name":"Avicenna Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e4/1b/10-1055-s-0042-1749611.PMC9425117.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40342371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characteristics of School Injuries Presenting to the Emergency Department. 急诊科学校伤害的特点
Avicenna Journal of Medicine Pub Date : 2022-06-20 eCollection Date: 2022-04-01 DOI: 10.1055/s-0042-1748832
Serdar Özdemir, Hatice Şeyma Akça, Abdullah Algın, Kamil Kokulu, Abuzer Özkan
{"title":"Characteristics of School Injuries Presenting to the Emergency Department.","authors":"Serdar Özdemir,&nbsp;Hatice Şeyma Akça,&nbsp;Abdullah Algın,&nbsp;Kamil Kokulu,&nbsp;Abuzer Özkan","doi":"10.1055/s-0042-1748832","DOIUrl":"https://doi.org/10.1055/s-0042-1748832","url":null,"abstract":"<p><p><b>Background</b>  School injuries account for approximately one-fifth of pediatric injuries. We aimed to investigate the frequency and severity of school injuries among school-aged children and determine clinical diagnoses and surgery requirement data. <b>Methods</b>  In this prospective study, children who were admitted to the emergency department due to school accidents over a 5-month period were included. Demographics, activity during trauma, mechanism of trauma, nature, severity, emergency department outcomes, and surgery requirement were evaluated. <b>Results</b>  The study included a total of 504 school-aged children, of whom 327 (64.9%) were male and 177 (35.1%) were female. Of the children, 426 (84.5%) had no evidence of injury or minor injury, while 78 (15.5%) had moderate or severe injury. There was a statistically significant difference between these two groups in terms of gender ( <i>p</i>  = 0.031). Of the 78 children with moderate or severe injuries, 45 had extremity fractures, 18 had lacerations, 5 had maxillofacial injuries, 4 had cerebral contusion, 1 had lung contusion, and 1 had cervical soft-tissue damage. Two patients with fractures and two with eyelid lacerations were treated surgically, and four patients with brain contusion were hospitalized for a close follow-up. <b>Conclusion</b>  This study revealed that the most common moderate or severe injuries in school accidents referred to emergency department were distal radius fractures and lacerations.</p>","PeriodicalId":32889,"journal":{"name":"Avicenna Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f9/7a/10-1055-s-0042-1748832.PMC9272454.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40615299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Efficacy and Safety of SGLT2 Inhibitors as Adjunctive Treatment in Type 1 Diabetes in a Tertiary Care Center in Saudi Arabia. SGLT2抑制剂作为辅助治疗1型糖尿病在沙特阿拉伯三级保健中心的疗效和安全性
Avicenna Journal of Medicine Pub Date : 2022-02-21 eCollection Date: 2022-01-01 DOI: 10.1055/s-0041-1742196
Walla Fallatah, Imad Brema, Ahmed Alobedallah, Reem Alkhathami, Shawana Zaheer, Eyad AlMalki, Mohammed Almehthel, Saad Alzahrani, Mussa H AlMalki
{"title":"Efficacy and Safety of SGLT2 Inhibitors as Adjunctive Treatment in Type 1 Diabetes in a Tertiary Care Center in Saudi Arabia.","authors":"Walla Fallatah, Imad Brema, Ahmed Alobedallah, Reem Alkhathami, Shawana Zaheer, Eyad AlMalki, Mohammed Almehthel, Saad Alzahrani, Mussa H AlMalki","doi":"10.1055/s-0041-1742196","DOIUrl":"10.1055/s-0041-1742196","url":null,"abstract":"<p><p><b>Background</b>  Adjunctive treatment with sodium-glucose co-transporters 2 inhibitors (SGLT2- I) has been successfully used in patients with type 1 diabetes mellitus (T1DM) in recent years to improve glycemic control and reduce body weight without increasing the risk of hypoglycemia; however, there is a scarcity of evidence for real-world experience in their use in T1DM Saudi patients. The purpose of this study was to evaluate the efficacy and safety of empagliflozin as off-label adjunctive therapy in Saudi patients with T1DM. <b>Methods</b>  This study was a retrospective study for T1DM patients, who were prescribed empagliflozin as an adjunctive therapy. Baseline characteristics including age, changes in HbA1c, body weight, total daily insulin dose, lipid profile, and well as side effects such as urinary tract infections (UTIs) and diabetes ketoacidosis (DKA) were evaluated before and after initiation empagliflozin in 37 T1DM patients. <b>Results</b>  The mean age was 25.8 ± 8.0 years, mean weight was 75.3 ± 14.8 kg, mean body mass index (BMI) was 28.1 ± 6.7 kg/m <sup>2</sup> , mean duration of diabetes was 10.1 ± 6.5 years, and mean HbA1c was 9.4 ± 1.4%. After a mean follow-up duration of 15.8 ± 6.0 months, the mean reduction in the HbA1c% from baseline was 0.82% ( <i>p</i>  = 0.001) and mean weight reduction from baseline was 1.7 kg ( <i>p</i>  = 0.097). The total daily insulin dose was decreased by 2.9 units. UTIs and DKA episodes were reported among 2.7% and 10.8% of the participants, respectively. <b>Conclusion</b>  Empagliflozin in combination with insulin in overweight Saudi T1DM subjects resulted in a significant improvement in glycemic control, mild non-significant reduction in body weight, and a small but statistically significant reduction in the total daily insulin dose with a slight increase in the risk of DKA and UTIs. Further larger prospective studies are needed for better evaluation of the efficacy and safety of these agents in Saudi T1DM patients.</p>","PeriodicalId":32889,"journal":{"name":"Avicenna Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9110106/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45765455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mechanical Thrombectomy and Thrombolysis with Stent Placement for Superior Mesenteric Artery Thrombosis in a COVID-19 Patient 机械取栓加支架置入术治疗1例COVID-19患者肠系膜上动脉血栓形成
Avicenna Journal of Medicine Pub Date : 2022-01-01 DOI: 10.1055/s-0041-1740645
Abdulmajeed Bin Dahmash, Aljabriyah Alfutais, S. Alshehri, O. Bashir
{"title":"Mechanical Thrombectomy and Thrombolysis with Stent Placement for Superior Mesenteric Artery Thrombosis in a COVID-19 Patient","authors":"Abdulmajeed Bin Dahmash, Aljabriyah Alfutais, S. Alshehri, O. Bashir","doi":"10.1055/s-0041-1740645","DOIUrl":"https://doi.org/10.1055/s-0041-1740645","url":null,"abstract":"the respiratory system, from mild to severe symptoms such as acute respiratory distress syn-drome. Owing to the global in fl ammatory response and en-dothelial damage, COVID-19 may predispose to coagulation that can lead to thrombotic complications. Here, we present a case of superior mesenteric artery (SMA) thrombosis as a consequence of COVID-19, which was treated with an endovascular approach by mechanical thrombectomy with thrombolysis and stent placement in the SMA.","PeriodicalId":32889,"journal":{"name":"Avicenna Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46863228","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 of Minimal Change Disease after SARS-CoV-2 Vaccination under the Age of 18 一例18岁以下接种严重急性呼吸系统综合征冠状病毒2型疫苗后的微小变化疾病
Avicenna Journal of Medicine Pub Date : 2022-01-01 DOI: 10.1055/s-0042-1743209
M. Alhosaini
{"title":"A Case of Minimal Change Disease after SARS-CoV-2 Vaccination under the Age of 18","authors":"M. Alhosaini","doi":"10.1055/s-0042-1743209","DOIUrl":"https://doi.org/10.1055/s-0042-1743209","url":null,"abstract":"This is a care report of a 16-year-old-male who developed de novo minimal change disease following the second dose of the Pfizer vaccine. The patient developed sudden onset edema and 10 kg weight gain. He had nephrotic range proteinuria with normal renal function. Kidney biopsy with adequate sample confirmed minimal change disease. The patient improved after 1 week of starting prednisone. This is the first case of minimal change disease after the Pfizer vaccine in the teenager population since expanding the age groups to allow younger subjects to receive the vaccine. Reporting cases at different age groups will help in trying to clarify whether the increasing reports of nephrotic syndrome following the vaccination are accidental or cause–effect relationship.","PeriodicalId":32889,"journal":{"name":"Avicenna Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44182822","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: 5
Perception of Faculty toward Challenges in Teaching and the Role of Medical Education Workshops in Addressing Them: A Mixed-Methods Study 教师对教学挑战的认识以及医学教育研讨会在应对挑战中的作用:一项混合方法研究
Avicenna Journal of Medicine Pub Date : 2022-01-01 DOI: 10.1055/s-0042-1744434
S. Shrivastava, Shivasakthy Manivasakan, P. Shrivastava, L. Somu
{"title":"Perception of Faculty toward Challenges in Teaching and the Role of Medical Education Workshops in Addressing Them: A Mixed-Methods Study","authors":"S. Shrivastava, Shivasakthy Manivasakan, P. Shrivastava, L. Somu","doi":"10.1055/s-0042-1744434","DOIUrl":"https://doi.org/10.1055/s-0042-1744434","url":null,"abstract":"Background  A medical teacher has a very complex job profile, wherein they are expected to train a cohort of newly joined medical aspirants to competent health care professionals. The current study was conducted to identify the challenges faced by the faculty members in medical teaching and to assess the perception of teachers on the role of medical education workshops in addressing these challenges. Methods  It was a Mixed Methods study conducted over a period of 9 months from January to September 2021 in a tertiary teaching medical college and hospital of Chengalpet District of Tamil Nadu amongst the faculty members of the teaching medical college and hospital. In the first phase, universal sampling method was employed, wherein all faculty members were asked to fill the online semi-structured questionnaire. In the second phase, purposive sampling was employed, wherein all teachers who have a minimum teaching experience of 3 years and have attended any medical education workshop were included and interviewed using a focus group discussion guide. The quantitative date was analyzed using descriptive statistics, while the qualitative data was analyzed using manual content analysis. Results  In the quantitative phase, 149 faculty members filled the online questionnaire, of which majority were females (52.3%) and were from the clinical departments (63.1%). The manual thematic content analysis of the FGD resulted in the identification of two themes (challenges and utility of workshops). The challenges theme consisted of three categories of Faculty, Students, and Administration, while Utility of workshops theme included two categories of refinement of skills, and suggestions for future Conclusion  In conclusion, lack of teamwork in the department, multiple responsibilities assigned to a single person, and shortage of clinical material during COVID-19 were identified as the main challenges in teaching–learning. The medical education workshops play a significant role in improving the knowledge of various domains of teaching and assessment, introduction of innovations, and ensure better performance of the faculty members.","PeriodicalId":32889,"journal":{"name":"Avicenna Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49441091","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
COVID-19: The Impact on Internal Medicine Resident Training 新冠肺炎:对内科住院医师培训的影响
Avicenna Journal of Medicine Pub Date : 2022-01-01 DOI: 10.1055/s-0042-1743210
O. L. Garcia, K. Sawalha, Mohammad Al-Akchar
{"title":"COVID-19: The Impact on Internal Medicine Resident Training","authors":"O. L. Garcia, K. Sawalha, Mohammad Al-Akchar","doi":"10.1055/s-0042-1743210","DOIUrl":"https://doi.org/10.1055/s-0042-1743210","url":null,"abstract":"The novel coronavirus disease 2019 (COVID-19) pandemic has impacted the lives of physicians at all levels. The workloads and working hours have increased tremendously which affected the time spent on administrative and academic duties. The COVID-19 pandemic imposed a lot of challenges on academic institutions in term of providing quality of care to patients and maintaining the quality of education for trainee. Herein, we discuss the challenges and impact of the pandemic on residents training.","PeriodicalId":32889,"journal":{"name":"Avicenna Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47810587","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
Prevalence of Associated Endocrine Diseases in Patients with Neurofibromatosis Type 1 1型神经纤维瘤病患者相关内分泌疾病的患病率
Avicenna Journal of Medicine Pub Date : 2022-01-01 DOI: 10.1055/s-0041-1742197
Aysha A Alshahrani, Zainah A Abuoliat, Awad Alshahrani, M. A. Al Balwi
{"title":"Prevalence of Associated Endocrine Diseases in Patients with Neurofibromatosis Type 1","authors":"Aysha A Alshahrani, Zainah A Abuoliat, Awad Alshahrani, M. A. Al Balwi","doi":"10.1055/s-0041-1742197","DOIUrl":"https://doi.org/10.1055/s-0041-1742197","url":null,"abstract":"Background  Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous disorder that increases the risk of developing benign and malignant tumors. Several associated endocrine diseases in NF-1 patients have been explained in the literature. Thus, this study aims to assess the endocrine manifestations as there no previous local data have discussed this association. Methods  A retrospective cross-sectional study was conducted at KAMC and KASCH, Riyadh, Saudi Arabia by including all patients genetically confirmed with NF1 from 2004 until 2019 using a consecutive non-probability sampling technique. The included data were demographics, consanguinity, genetic variant mutations as well as associated endocrine diseases. Results  The prevalence of patients with associated endocrine diseases was estimated to be 19.4%. Short stature showed the highest frequency of associated endocrine diseases followed by subclinical hypothyroidism. Positive consanguinity, sporadic mutation, and pathogenic variant showed high frequencies. Conclusion  The coexistence of endocrine diseases was found in NF-1 patients. Therefore, screening for endocrine abnormality in patients with NF-1 by comprehensive history and physical exam as well as investigations to minimize complications and the late presentation should be considered; however, further studies are necessary to address the need.","PeriodicalId":32889,"journal":{"name":"Avicenna Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47119211","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: 2
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