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An Unusual Presentation of Pulmonary Mucormycosis as a “Mass-like” Consolidation in an Infant with Chronic Granulomatous: A Case Report Study 一例慢性肉芽肿性婴儿肺毛霉菌病“肿块样”合并症的异常表现:病例报告研究
Q3 Medicine Pub Date : 2023-05-19 DOI: 10.5812/compreped-136054
Narges Lashkarbolouk, Mahdi Mazandarani, Ali Ahani Azari, Lobat Shahkar
Introduction: Chronic granulomatous disease (CGD) is a primary hereditary immunodeficiency condition caused by a defect in the nicotinamide adenine dinucleotide phosphate (NADP) oxidase complex. Recurrent infections and inflammatory complications with a narrow bacterial and fungal spectrum characterize CGD. Acute inflammatory and infectious complications are vexing and fatal for them. Therefore, managing CGD with prophylactic antibiotics and antifungal agents is essential. Case Presentation: We present a 23-month-old infant with a chief complaint of recent lymphadenopathy diagnosed with CGD. Two months later, she was hospitalized with uncontrolled fever and lung involvement while receiving prophylactic treatment with trimethoprim/sulfamethoxazole. A mass-like consolidation was seen in her radiography evaluation. Based on the biopsy and bronchoalveolar lavage (BAL) pathology report, pulmonary mucormycosis was confirmed. Two weeks after starting the standard treatment regimen with amphotericin B, the patient’s symptoms improved. She was discharged in good general condition with oral voriconazole and trimethoprim/sulfamethoxazole and referred to do hematopoietic stem cell transplantation (HSCT). Conclusions: Mucormycosis in CGD is not a common infection and usually infects patients with impaired cell-mediated immunity, hematological malignancies, steroid treatment, and diabetes. Patients with CGD are vulnerable when treated with a high dose of immunosuppressant medications. In our case report, the patient was infected with mucormycosis despite not receiving immunosuppressant medications and having no history of hematologic malignancies or diabetes. Our patient also had a mass-like consolidation in her radiological result, a rare feature of pulmonary mucormycosis involvement in CGD patients.
慢性肉芽肿病(CGD)是一种由烟酰胺腺嘌呤二核苷酸磷酸(NADP)氧化酶复合物缺陷引起的原发性遗传性免疫缺陷疾病。复发性感染和炎症并发症与狭窄的细菌和真菌谱是CGD的特征。急性炎症和感染并发症对他们来说是令人烦恼和致命的。因此,用预防性抗生素和抗真菌药物治疗CGD是必不可少的。病例介绍:我们提出了一个23个月大的婴儿,最近的主要主诉淋巴结病诊断为CGD。两个月后,她因发热失控和肺部受累住院,同时接受甲氧苄啶/磺胺甲恶唑预防性治疗。x线检查显示肿块样实变。根据活检和支气管肺泡灌洗(BAL)病理报告,确认肺毛霉菌病。在开始使用两性霉素B的标准治疗方案两周后,患者的症状有所改善。出院时情况良好,口服伏立康唑和甲氧苄氨苄/磺胺甲恶唑,拟行造血干细胞移植。结论:CGD中的毛霉病不是一种常见的感染,通常感染细胞介导免疫受损、血液系统恶性肿瘤、类固醇治疗和糖尿病患者。当使用高剂量的免疫抑制药物治疗时,CGD患者是脆弱的。在我们的病例报告中,患者感染了毛霉菌病,尽管没有接受免疫抑制药物治疗,也没有血液恶性肿瘤或糖尿病史。我们的患者在放射学结果中也有肿块样实变,这是CGD患者肺部毛霉菌病累及的罕见特征。
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引用次数: 0
Prevalence and Related Factors for Non-alcoholic Fatty Liver Disease in Obese Students 肥胖学生非酒精性脂肪肝患病率及相关因素分析
Q3 Medicine Pub Date : 2023-05-18 DOI: 10.5812/compreped-135095
F. Imanzadeh, Beheshteh Olang, A. Sayyari, N. Dara, K. Khatami, A. Hosseini, Maryam Kazemi Aghdam, M. Khalili, M. Hajipour, Zahra Fazeli Farsan, Negar Imanzadeh, Ayeh Yaraghi, Tahereh Hatami, S. Mohammadi
Background: Non-alcoholic fatty liver disease (NAFLD) occurs with the pathological accumulation of fat in the liver and is one of the most common liver disorders worldwide among adults and even children. Obesity is a risk factor for NAFLD. Objectives: Considering the increasing prevalence of obesity in Iran and worldwide, this study was conducted to determine the prevalence of NAFLD and its related factors in overweight and obese students of schools in Tehran, Iran. Methods: This cross-sectional study was performed on 115 overweight and obese students [body mass index (BMI) ≥ 25] with an age range of 7 - 17 years. Eligible individuals were classified into two groups with and without NAFLD. Liver ultrasonography and measurement of serum parameters, including fasting blood sugar, lipid profile, and liver enzymes, were performed. Next, the demographic and anthropometric characteristics were compared between the two groups. Results: Out of 115 studied students, 71 subjects were boys (61.7%). The results showed that the mean BMI in patients with fatty liver was significantly higher than in individuals without fatty liver (P = 0.03). According to our findings, the mean total cholesterol in NAFLD patients was significantly higher than in the group without NAFLD (P = 0.008). The univariate logistic regression model results for measuring factors related to fatty liver in students showed a significant positive correlation between male gender, BMI, total cholesterol, aspartate aminotransferase, and alanine aminotransferase. Conclusions: NAFLD is a substantial problem in school children and correlates with elevated BMI. Therefore, the measurement of BMI can be used as a useful predictor and screening tool for NAFLD in school children.
背景:非酒精性脂肪肝(NAFLD)伴随着肝脏中脂肪的病理性积聚而发生,是全世界成年人甚至儿童最常见的肝脏疾病之一。肥胖是NAFLD的一个危险因素。目的:考虑到伊朗和世界范围内肥胖的患病率不断上升,本研究旨在确定伊朗德黑兰学校超重和肥胖学生中NAFLD的患病率及其相关因素。方法:对115名年龄在7-17岁的超重和肥胖学生[体重指数(BMI)≥25]进行横断面研究。符合条件的个体被分为患有和不患有NAFLD的两组。进行肝脏超声检查和血清参数测量,包括空腹血糖、血脂和肝酶。接下来,对两组患者的人口统计学和人体测量特征进行比较。结果:在115名研究学生中,71名受试者是男孩(61.7%)。结果显示,患有脂肪肝的患者的平均BMI显著高于没有脂肪肝的个体(P=0.03)。根据我们的研究结果,NAFLD患者的平均总胆固醇显著高于非NAFLD组(P=0.008)。测量学生脂肪肝相关因素的单变量逻辑回归模型结果显示,男性、BMI、总胆固醇、天冬氨酸转氨酶和丙氨酸转氨酶之间存在显著正相关。结论:NAFLD是在校儿童的一个严重问题,与BMI升高有关。因此,BMI的测量可以作为学龄儿童NAFLD的有用预测因子和筛查工具。
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引用次数: 0
Prevalence of Overweight and Obesity in Children Diagnosed with Phenylketonuria 苯丙酮尿症患儿超重和肥胖的患病率
Q3 Medicine Pub Date : 2023-05-17 DOI: 10.5812/compreped-136499
Hoda Atef Abdelsattar Ibrahim, Gihan Fouad Ahmed, Khaled Mohamed Abdelhamid ElKhashab, A. Amin, Aya Farag Attia Elsebaey, Enas Sayed Abbas
Background: Growing evidence suggests a higher occurrence of overweight and obesity in children diagnosed with phenylketonuria (PKU), yet the exact cause is still unknown. Objectives: The objective is to address the prevalence of overweight and obesity in children with PKU. Methods: In our cross-sectional study, we included 47 children with PKU who were receiving care at the nutritional clinic of the National Nutrition Institute. We conducted anthropometric assessments, which involved measuring weight, height, and BMI. Additionally, we performed biochemical evaluations, including measurements of fasting total cholesterol (TC), low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, very low-density lipoprotein (VLDL) cholesterol, and triglycerides. Moreover, we assessed fasting blood sugar levels. Results: In the study group, 57.44% were males, and 42.55% were females, with no significant gender difference observed. Malnourished children exhibited significantly higher phenylalanine (PHE) levels. Most participants (n = 26, 55.3%) were overweight or obese. A positive and significant correlation (rs = 0.6, P = 0.01) was found between PHE levels and fasting blood sugar levels. Conclusions: Children with PKU have a high prevalence of overweight and obesity, emphasizing the importance of obesity screening in this population.
背景:越来越多的证据表明,在诊断为苯丙酮尿症(PKU)的儿童中,超重和肥胖的发生率更高,但确切的原因尚不清楚。目的:目的是解决超重和肥胖的患病率儿童PKU。方法:在我们的横断面研究中,我们纳入了47名在国家营养研究所营养诊所接受治疗的PKU儿童。我们进行了人体测量评估,包括测量体重、身高和身体质量指数。此外,我们进行了生化评估,包括空腹总胆固醇(TC)、低密度脂蛋白(LDL)胆固醇、高密度脂蛋白(HDL)胆固醇、极低密度脂蛋白(VLDL)胆固醇和甘油三酯的测量。此外,我们还评估了空腹血糖水平。结果:研究组中男性占57.44%,女性占42.55%,性别差异无统计学意义。营养不良儿童苯丙氨酸(PHE)水平明显升高。大多数参与者(n = 26, 55.3%)超重或肥胖。PHE水平与空腹血糖水平呈显著正相关(rs = 0.6, P = 0.01)。结论:PKU患儿超重和肥胖的患病率较高,强调了在这一人群中进行肥胖筛查的重要性。
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引用次数: 1
Pediatric Dilemma of the Third Wave Pandemic of COVID-19 in A Tertiary Care Hospital for Children 第三波新冠肺炎大流行在某儿童三级医院的儿科困境
Q3 Medicine Pub Date : 2023-05-03 DOI: 10.5812/compreped-136070
Hoda Atef Abdelsattar Ibrahim, R. Gamal, Mona Mohsen, A. Amin, Yasmeen AbdElSalam, M. Aziz
Background: In February 2020, a novel coronavirus caused a pandemic affecting children and adults with different presentations and outcomes. Objectives: The current study aimed to provide descriptive values regarding the clinical and laboratory profiles of children suspected of coronavirus disease 2019 (COVID-19). This purpose was achieved by studying all presentations, whether clinical or laboratory, typical or atypical, of suspected COVID-19-affected children at the peak of the third wave in a large tertiary hospital. Methods: This cross-sectional study enrolled 404 children with suspected COVID-19 who were tested in the Emergency Room of Abu El-Reesh Japanese Hospital, Cairo, Egypt, during the study period, which was from March 2021 to the end of October 2021. According to age, the patients were divided into four groups, including those under 2 years, the early childhood group (2 - 6 years), the late childhood group (6 - 12 years), and those over 12 years. The enrolled cases met the diagnostic criteria for COVID-19 according to the Egyptian Ministry of Health protocol. Results: In this study, 58 out of 404 tested children were positive for COVID-19 (14%), with a higher male predominance (n = 230/404, or 56.9% of the study group). The median age of the study participants was 1.6 years. Out of all presentations, the non-respiratory ones predominated and had the upper hand. It represented 62.9% (254/404) of the total presentations of the enrolled children. Among the non-respiratory manifestations, gastrointestinal ones were predominant (n = 63). Thrombocytopenia, leucopenia, and pancytopenia were significantly higher in children with non-respiratory manifestations than in those with respiratory manifestations. Conclusions: Children might have atypical manifestations of COVID-19 infections. The non-respiratory system could predominate in children. Thrombocytopenia could be a laboratory marker for COVID-19 infection, especially in those with predominant non-respiratory manifestations. Respiratory manifestations in children could be a guide for other systemic affections.
背景:2020年2月,一种新型冠状病毒引发了一场影响儿童和成年人的大流行,其表现和结果各不相同。目的:本研究旨在提供有关2019冠状病毒病(新冠肺炎)疑似儿童临床和实验室资料的描述性价值。这一目的是通过在一家大型三级医院研究第三波疫情高峰期疑似受新冠肺炎影响的儿童的所有表现来实现的,无论是临床表现还是实验室表现,无论是典型表现还是非典型表现。方法:这项横断面研究纳入了404名疑似新冠肺炎儿童,他们在研究期间(2021年3月至2021年10月底)在埃及开罗Abu El-Reesh日本医院急诊室接受了检测。根据年龄,患者被分为四组,包括2岁以下的患者、幼儿组(2-6岁)、儿童晚期组(6-12岁)和12岁以上的患者。根据埃及卫生部的协议,登记病例符合新冠肺炎诊断标准。结果:在这项研究中,404名接受检测的儿童中有58名新冠肺炎呈阳性(14%),男性占更高比例(n=230/404,占研究组的56.9%)。研究参与者的中位年龄为1.6岁。在所有陈述中,非呼吸系统的陈述占主导地位。它占注册儿童总陈述的62.9%(254/404)。在非呼吸道表现中,胃肠道表现为主(n=63)。非呼吸道表现的儿童血小板减少症、白细胞减少症和全血细胞减少症明显高于有呼吸道症状的儿童。结论:儿童感染新冠肺炎可能有非典型表现。非呼吸系统可能在儿童中占主导地位。血小板减少症可能是新冠肺炎感染的实验室标志物,尤其是在那些主要非呼吸道表现的患者中。儿童的呼吸道表现可以作为其他系统性疾病的指南。
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引用次数: 0
Neonatal Multisystem Inflammatory Syndrome Associated with COVID-19 Exposure in Two Cases from Iran 伊朗两例新生儿多系统炎症综合征与COVID-19暴露相关
Q3 Medicine Pub Date : 2023-04-11 DOI: 10.5812/compreped-134897
Maryam Saeedi, Kayvan Mirnia, Razieh Sangsari, Zeynab Jannatmakan, Vahid Ziaee
Introduction: Immune dysregulation happens after exposure to corona virus disease-2019 (COVID-19) and affects many organs. It is confirmed with a positive COVID-19 test history, fever, and the involvement of 2 or more organs, but it is hard to diagnose in neonates. Case Presentation: There were 2 Persian neonates admitted to the Neonatal Intensive Care Unit or neonatal ward of the Children’s Medical Center, Tehran, Iran, with sepsis in this case presentation. The trunk and extremities were affected by macular rashes in both cases. COVID-19 tests in both cases were negative, but both of their mothers were affected by COVID-19 before delivery. In both cases, systemic and macular rashes responded to corticosteroids. Conclusions: Macular rash can present multisystem inflammatory disease in neonates. Neonates with a positive history of COVID-19 in parents or relatives should be considered for this syndrome.
导语:暴露于冠状病毒病-2019 (COVID-19)后会发生免疫失调,并影响许多器官。确诊为COVID-19检测呈阳性、发热、2个或2个以上器官受累,但在新生儿中很难诊断。病例介绍:在伊朗德黑兰儿童医学中心的新生儿重症监护室或新生儿病房中,有2名波斯新生儿患有败血症。两例患者的躯干和四肢均出现黄斑疹。两例患者的COVID-19检测结果均为阴性,但她们的母亲在分娩前都感染了COVID-19。在这两种情况下,全身和黄斑皮疹对皮质类固醇有反应。结论:新生儿黄斑疹可表现为多系统炎性疾病。父母或亲属中有COVID-19阳性病史的新生儿应考虑为本综合征。
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引用次数: 0
Is There Any Correlation Between QT Dispersion and Echocardiographic Indices in Term Neonates with and Without Maternal Gestational Diabetes Mellitus? 有无妊娠期糖尿病足月新生儿QT离散度与超声心动图指标是否相关?
Q3 Medicine Pub Date : 2023-04-10 DOI: 10.5812/compreped-132915
M. Zarkesh, Seyyedeh Azade Hoseini Nouri, Manijeh Tabrizi, Esfandiar Nazari, Atbin Latifi, Sadroddin Mahdipour, E. Kazemnezhad leili
Background: Gestational diabetes mellitus (GDM) can cause diastolic dysfunction and asymmetric ventricular septal hypertrophy in infants of gestational diabetic mothers (IGDMs). Ventricular thickness can affect QT interval and other QT parameters. Objectives: This study aimed to evaluate and compare the duration of QT, corrected QT (QTc), QT dispersion (QTD), and echocardiographic indices in two groups of neonates of mothers with and without GDM. Methods: In this case-control study, 76 term neonates were enrolled. The case group (n = 38) included IGDM, and the control group (n = 38) included neonates born to healthy mothers. The QT, QTD, and QTc were calculated based on electrocardiographic results. Ejection fraction (EF), interventricular septal thickness at the end of diastole (IVSTD), left ventricular end-diastolic diameter (LVEDD), left ventricular end-systolic diameter (LVESD), and left ventricular posterior wall thickness (LVPWT) were evaluated by performing echocardiography, and the two groups were compared regarding them. Data were analyzed using SPSS version 21. Results: In this study, neonates' mean age and weight were 4.18 ± 1.3 days and 3418.16 ± 549.24 grams, respectively. As for the gender of neonates, 68.4% in the case group and 47.4% in the control group were female. The two groups had no significant difference regarding age, weight, and sex (P > 0.05). Minimum QTc (QTc min) was significantly higher in the case group (P = 0.046). Considerably lower EF and higher IVSTD were found in the case group (P = 0.011 and P = 0.05 respectively). In univariate analysis, echocardiographic parameters were not the predictors of QTD (P > 0.05); in multivariate analysis, however, QTD was significantly correlated with LVEDD (P = 0.001) and LVESD (P = 0.015). Conclusions: A higher proportion of septal hypertrophy was detected in IGDMs compared to infants of the healthy mothers without any correlation with ECG indices. This involvement was accompanied by relatively decreased EF verified by echocardiography. Most ECG findings, including QTD values, had no linear relationship with echocardiographic parameters except for LVEDD and LVESD.
背景:妊娠期糖尿病(GDM)可导致妊娠期糖尿病母亲(igdm)的婴儿舒张功能障碍和不对称室间隔肥厚。心室厚度可影响QT间期及其他QT参数。目的:本研究旨在评估和比较两组有和无GDM母亲的新生儿QT间期、校正QT间期(QTc)、QT离散度(QTD)和超声心动图指标。方法:本病例对照研究纳入76例足月新生儿。病例组(n = 38)包括IGDM,对照组(n = 38)包括健康母亲所生的新生儿。根据心电图结果计算QT、QTD和QTc。采用超声心动图评价两组患者的射血分数(EF)、舒张末期室间隔厚度(IVSTD)、左室舒张末期内径(LVEDD)、左室收缩末期内径(LVESD)、左室后壁厚度(LVPWT),并进行比较。数据采用SPSS version 21进行分析。结果:本组新生儿平均年龄为4.18±1.3 d,体重为3418.16±549.24 g。新生儿性别方面,病例组为68.4%,对照组为47.4%。两组患者年龄、体重、性别差异无统计学意义(P < 0.05)。病例组最小QTc (QTc min)显著高于病例组(P = 0.046)。病例组EF明显降低,IVSTD明显升高(P = 0.011, P = 0.05)。单因素分析中,超声心动图参数不是QTD的预测因子(P < 0.05);然而,在多变量分析中,QTD与LVEDD (P = 0.001)和LVESD (P = 0.015)显著相关。结论:与健康母亲的婴儿相比,igdm婴儿中隔肥厚的比例更高,与ECG指标无相关性。超声心动图证实,这种受累伴有相对降低的EF。除LVEDD和LVESD外,大多数心电图表现(包括QTD值)与超声心动图参数无线性关系。
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引用次数: 0
Successful Therapy of Infarct Stroke with Nephrotic Syndrome in Children: A Rare Case Report 小儿缺血性脑卒中合并肾病综合征的成功治疗:一例罕见病例报告
Q3 Medicine Pub Date : 2023-04-10 DOI: 10.5812/compreped-135106
N. A. Risan, Dea Aprilianti Permana, A. Widiasta, Mia Milanti Dewi, D. Hilmanto
Introduction: Nephrotic syndrome (NS) is characterized by swelling, proteinuria, hypoalbuminemia, or hyperlipidemia. The incidence of NS depends on the country and ethnicity and is highest in Asia than in Europe. Nephrotic syndrome can cause complications such as arterial thromboembolism (ATE) due to a hypercoagulable state. Case Presentation: We encountered a 9-year-old boy with NS and infarct stroke, which was treated with corticosteroid and low molecular weight of heparin with clinical improvement. Conclusions: We recommend that all NS children with high platelet levels perform thromboelastography (TEG) examination and use prophylactic anticoagulation with monitoring of bleeding risk during therapy.
导读:肾病综合征(NS)以肿胀、蛋白尿、低白蛋白血症或高脂血症为特征。NS的发病率取决于国家和种族,在亚洲比在欧洲最高。肾病综合征可引起并发症,如动脉血栓栓塞(ATE)由于高凝状态。病例介绍:我们遇到了一个患有NS和梗死性脑卒中的9岁男孩,经皮质类固醇和低分子肝素治疗,临床改善。结论:我们建议所有血小板水平高的NS患儿进行血栓弹性成像(TEG)检查,并在治疗期间使用预防性抗凝治疗并监测出血风险。
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引用次数: 1
Etiology, Presenting Features, and Endoscopic Findings of Portal Vein Hypertension in Children 儿童门静脉高压的病因、表现特征和内窥镜检查结果
Q3 Medicine Pub Date : 2023-04-09 DOI: 10.5812/compreped-134763
P. Rohani, Mehrnaz Rezghi, F. Imanzadeh, Sharareh Kamfar, M. Hajipour
Background: Portal hypertension (PH) refers to a clinical syndrome characterized by an elevation in the pressure gradient between the portal and hepatic veins. It is necessary to identify the underlying causes to manage this disorder effectively. Objectives: This study aimed to investigate the etiology, clinical manifestations, and endoscopic findings in children with PH. Methods: This analytic cross - sectional study was performed on patients (< 18 years) with PH who were referred to the Pediatric Gastroenterology Clinic of Mofid Children’s Hospital in Tehran, Iran, within 2014 - 2020. The demographic details of the patients were collected from their medical records. Clinical manifestations, age at diagnosis, family history, and endoscopic findings were also recorded. Results: A total of 102 patients participated in this study. The subjects’ mean age was 6.81 ± 4.46 years. The results revealed that 50 (49.0%) and 46 (45%) cases had PH due to extrahepatic and intrahepatic diseases, respectively. Autoimmune hepatitis and portal vein thrombosis were the most common etiology of intrahepatic and extrahepatic PH, respectively. Based on the endoscopic analysis, esophageal varices were the most common findings (95.8%) observed in patients with PH. Conclusions: Extrahepatic diseases were the most prevalent PH etiology in children referred to the Pediatric Gastroenterology Clinic of Mofid Children’s Hospital.
背景:门静脉高压(PH)是指以门静脉和肝静脉之间压力梯度升高为特征的一种临床综合征。有必要确定潜在的原因,以有效地管理这种疾病。目的:本研究旨在探讨儿童PH的病因、临床表现和内窥镜检查结果。方法:本分析横断面研究对2014 - 2020年在伊朗德黑兰Mofid儿童医院儿科胃肠病学诊所转诊的PH患者(< 18岁)进行了研究。从患者的医疗记录中收集了患者的人口统计细节。同时记录临床表现、诊断年龄、家族史和内窥镜检查结果。结果:本研究共纳入102例患者。受试者平均年龄为6.81±4.46岁。结果显示肝外病变50例(49.0%),肝内病变46例(45%)。自身免疫性肝炎和门静脉血栓形成分别是肝内和肝外PH最常见的病因。根据内镜分析,食管静脉曲张是PH患者中最常见的表现(95.8%)。结论:肝外疾病是Mofid儿童医院儿科胃肠病学门诊儿童中最常见的PH病因。
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引用次数: 0
Periodic Fever in Children: A Report of Three Unusual Cases 儿童周期性发热3例报告
Q3 Medicine Pub Date : 2023-04-04 DOI: 10.5812/compreped-130982
N. Goel, Vikas Kashyap, I. Saini, Shobha Sharma, Ashutosh Kumar Singh
Introduction: Periodic fever syndrome (PFS) is a rare monogenic autoinflammatory disease group. The innate immune system abnormalities have a characteristic onset and spontaneous inflammation without any infectious or autoimmune trigger. It differs from autoimmune disorders (e.g., systemic lupus erythematosus (SLE)) occurring due to a defect in the adaptive immune system with auto-antibodies. Case Presentation: The clinical features of three patients presented with a periodic pattern of fever and a different constellation of symptoms were investigated. The final diagnosis of Periodic fever syndrome was reached based on standard diagnostic criteria and genetic testing. All three cases were observed to present with recurrent fever episodes at an interval of 6 - 12 weeks, 3 - 4 weeks, and one month, respectively. The first patient, presenting with a diffuse erythematous plaque-like lesion along the calf with severe calf pain and tenderness with signs of meningeal irritation, was diagnosed with a tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS) like phenotype. The genetic panel was negative in this case. The second patient presenting with recurrent pharyngitis, cervical adenitis, and tonsillitis unresponsive to antibiotics was diagnosed with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. The last patient presenting with recurrent monoarthritis, hepatosplenomegaly, and a positive Mediterranean fever (MEFV) gene mutation was diagnosed with familial Mediterranean fever (FMF). All three patients had normal growth and development. Conclusions: Although periodic fever syndrome was an uncommon entity, it was recommended that this syndrome should be considered when a patient presented with recurring fever episodes with a characteristic constellation of symptoms.
摘要:周期性发热综合征(PFS)是一种罕见的单基因自身炎症性疾病。先天免疫系统异常具有特征性的发病和自发炎症,没有任何感染或自身免疫触发。它不同于自身免疫性疾病(例如,系统性红斑狼疮(SLE)),由于自身抗体的适应性免疫系统缺陷而发生。病例介绍:临床特点提出了三个病人的周期性模式发烧和不同的星座症状进行了调查。根据标准诊断标准和基因检测,最终诊断为周期性发热综合征。3例患者分别在6 ~ 12周、3 ~ 4周和1个月的时间间隔出现反复发热。第一位患者表现为小腿周围弥漫性红斑斑块样病变,伴有严重的小腿疼痛和压痛,伴有脑膜刺激迹象,诊断为肿瘤坏死因子受体相关周期性发热综合征(TRAPS)样表型。这个病例的基因检测结果是阴性的。第二例患者表现为复发性咽炎、宫颈腺炎和扁桃体炎,对抗生素无反应,诊断为周期性发热、口疮性口炎、咽炎和腺炎(PFAPA)综合征。最后一名出现复发性单关节炎、肝脾肿大和地中海热(MEFV)基因突变阳性的患者被诊断为家族性地中海热(FMF)。三名患者生长发育正常。结论:虽然周期性发热综合征是一种不常见的症状,但当患者出现反复发热并伴有特征性症状时,建议考虑该综合征。
{"title":"Periodic Fever in Children: A Report of Three Unusual Cases","authors":"N. Goel, Vikas Kashyap, I. Saini, Shobha Sharma, Ashutosh Kumar Singh","doi":"10.5812/compreped-130982","DOIUrl":"https://doi.org/10.5812/compreped-130982","url":null,"abstract":"Introduction: Periodic fever syndrome (PFS) is a rare monogenic autoinflammatory disease group. The innate immune system abnormalities have a characteristic onset and spontaneous inflammation without any infectious or autoimmune trigger. It differs from autoimmune disorders (e.g., systemic lupus erythematosus (SLE)) occurring due to a defect in the adaptive immune system with auto-antibodies. Case Presentation: The clinical features of three patients presented with a periodic pattern of fever and a different constellation of symptoms were investigated. The final diagnosis of Periodic fever syndrome was reached based on standard diagnostic criteria and genetic testing. All three cases were observed to present with recurrent fever episodes at an interval of 6 - 12 weeks, 3 - 4 weeks, and one month, respectively. The first patient, presenting with a diffuse erythematous plaque-like lesion along the calf with severe calf pain and tenderness with signs of meningeal irritation, was diagnosed with a tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS) like phenotype. The genetic panel was negative in this case. The second patient presenting with recurrent pharyngitis, cervical adenitis, and tonsillitis unresponsive to antibiotics was diagnosed with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. The last patient presenting with recurrent monoarthritis, hepatosplenomegaly, and a positive Mediterranean fever (MEFV) gene mutation was diagnosed with familial Mediterranean fever (FMF). All three patients had normal growth and development. Conclusions: Although periodic fever syndrome was an uncommon entity, it was recommended that this syndrome should be considered when a patient presented with recurring fever episodes with a characteristic constellation of symptoms.","PeriodicalId":37929,"journal":{"name":"Journal of Comprehensive Pediatrics","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47074519","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
Comparison of the Effect of Oral Versus Parenteral Vitamin D on Serum Levels of Vitamin D in Premature Infants with Vitamin D Deficiency 口服与静脉注射维生素D对维生素D缺乏症早产儿血清维生素D水平影响的比较
Q3 Medicine Pub Date : 2023-04-03 DOI: 10.5812/compreped-134297
M. Kashaki, Zohreh Mohammadi, A. Mazouri, E. Norouzi
Background: Vitamin D levels lower than 20 ng/mL are defined as vitamin D deficiency and levels between 20 and 30 ng/mL are defined as insufficient vitamin D. Due to the high prevalence of vitamin D deficiency in premature infants and the need for obtaining optimal treatment methods, we compared the serum levels of vitamin D before and fifteen days after administration of the drug orally and by injection. Methods: In this randomized clinical trial, 90 premature infants with gestational age < 37 weeks were admitted to NICU of Shahid Akbarabadi Hospital, with concomitant vitamin D deficiency and insufficiency entered the study and randomly received oral (with oral drops of 1,000 units daily for 15 days) or injectable (a single dose of 15,000 units intramuscularly) vitamin D supplement and followed on the 16th day after drug administration by measuring 25 (OH) D, calcium, phosphorus, and serum alkaline phosphatase (ALP). Results: In this study, the gestational age of the patients was 29.39 ± 2.42 weeks, and their average birth weight was 1,208.45 ± 238.98 grams. There was no significant difference between the two groups that received the drug, and they were similar. The level of vitamin D in premature infants suffering from vitamin D deficiency was equal to 13.20 ± 6.37 ng/dL. There was no significant difference between the serum levels of ALP, phosphorus, and calcium in the patients of the injection and oral groups before and after the intervention (P-value > 0.05). Although there was no significant difference between the serum vitamin D levels in the two groups before the intervention, its level in the oral group was significantly higher than in the injection group after the intervention (P-value = 0.006). However, none of the treatment methods independently changed the effectiveness of the treatment (P-value = 0.073). Conclusions: The results of our study showed that, in premature infants with vitamin D deficiency or insufficiency, administration of vitamin D orally or by injection significantly increases the serum concentration of 25 (OH) D3 to sufficient levels safely, and both treatment routes can be used in practice.
背景:维生素D水平低于20 ng/mL被定义为维生素D缺乏,而水平在20至30 ng/mL之间被定义为缺乏维生素D。由于早产儿维生素D缺乏的患病率很高,并且需要获得最佳的治疗方法,我们比较了口服和注射给药前和给药后15天的血清维生素D水平。方法:本随机临床试验将90例孕龄<37周的早产儿送入沙希德·阿克巴拉巴迪医院新生儿重症监护室,伴有维生素D缺乏和不足的患者进入研究,随机接受口服(每天口服1000单位,持续15天)或注射(单次肌肉注射15000单位)维生素D补充剂,并在给药后第16天通过测量25(OH)D、钙、磷和血清碱性磷酸酶(ALP)进行随访。结果:本研究中,患者的胎龄为29.39±2.42周,平均出生体重为1208.45±238.98克。接受该药物治疗的两组之间没有显著差异,而且他们是相似的。患有维生素D缺乏症的早产儿的维生素D水平等于13.20±6.37纳克/分升。干预前后注射组和口服组患者血清ALP、磷和钙水平无显著差异(P值>0.05)。干预前两组患者血清维生素D水平虽无显著差异,干预后口服组的维生素D水平显著高于注射组(P值=0.006)。然而,没有一种治疗方法独立改变治疗的有效性(P值=0.073)。结论:我们的研究结果表明,在维生素D缺乏或不足的早产儿中,口服或注射维生素D可显著提高25(OH)D3的血清浓度,使其安全达到足够的水平,并且这两种治疗途径均可在实践中使用。
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Journal of Comprehensive Pediatrics
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