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Emotional, Behavioral and Social Problems in Children with Fecal Incontinence by Child Behavior Checklist (CBCL): A Cross-Sectional Study 儿童行为检查表(CBCL)对大便失禁儿童的情绪、行为和社会问题的横断面研究
Q3 Medicine Pub Date : 2022-10-10 DOI: 10.5812/compreped-130013
A. Hosseini, A. Mirbazel, Vahide Zeinali, M. Hajipour, Ghazal Zahed
Background: Fecal incontinence (FI) is a stressful condition for children and their parents that may affect the patient’s psychological well-being. Evaluating the patients’ psychological status may help physicians manage the disease effectively. Objectives: This study aimed to assess the emotional and behavioral disturbances in children with FI who were referred to the pediatric gastroenterology clinic in Mofid Children’s Hospital from April 2021 to 2022. Methods: This cross-sectional study included children (over four years old) with chronic constipation and fecal incontinence. The diagnosis of chronic constipation and FI were made according to Rome-IV criteria. The Child Behavior Checklist (CBCL) evaluated patients’ emotional, behavioral, and social problems. Results: One hundred one patients with a mean age of 7.96 years were enrolled in the study; 67.32% were males. According to CBCL, 12% (12 patients) indicated emotional and behavioral problems, with CBCL scores in the clinical or at-risk range. We detected anxious/depressed problems in five (4.95%), withdrawn/depressed problems in eight (7.92%), somatic complaints in seven (6.93%), social problems in eight (7.92%), thought problems in nine (8.91%), attention problems in seven (6.93%), rule-breaking behavior in two (1.98%), and aggressive behavior in nine (8.91%) patients. The risk of internalizing and externalizing disorders was reported in four (3.96%) and five (4.95%) patients. Also, eight (7.92%) and seven (6.93%) patients had clinical symptoms of internalizing and externalizing disorders, respectively. There was no significant relationship between patients’ age and gender with the CBCL scores in any subscales. However, there was a significant difference in the total score among the age groups (P = 0.04). Conclusions: The relatively high prevalence of emotional, behavioral, and social problems in our study corroborates the importance of psychological screening of children with FI during the treatment process.
背景:大便失禁(FI)是儿童及其父母的一种压力状况,可能会影响患者的心理健康。评估患者的心理状态可以帮助医生有效地控制疾病。目的:本研究旨在评估2021年4月至2022年被转诊至Mofid儿童医院儿科胃肠病诊所的FI儿童的情绪和行为障碍。方法:这项横断面研究包括患有慢性便秘和大便失禁的儿童(四岁以上)。根据罗马IV标准对慢性便秘和FI进行诊断。儿童行为检查表(CBCL)评估了患者的情绪、行为和社会问题。结果:本研究共有101例患者,平均年龄7.96岁;男性占67.32%。根据CBCL,12%(12名患者)表示有情绪和行为问题,CBCL评分在临床或风险范围内。我们检测到5名(4.95%)患者存在焦虑/抑郁问题,8名(7.92%)患者存在孤僻/抑郁问题。据报道,4名(3.96%)和5名(4.95%)患者存在内化和外化障碍的风险。此外,8名(7.92%)和7名(6.93%)患者分别有内化和外化障碍的临床症状。在任何分量表中,患者的年龄和性别与CBCL评分之间都没有显著关系。然而,各年龄组的总分存在显著差异(P=0.04)。结论:在我们的研究中,情绪、行为和社会问题的患病率相对较高,这证实了在治疗过程中对FI儿童进行心理筛查的重要性。
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引用次数: 0
Acute Transverse Myelitis in a Paediatric Patient with Coronavirus Disease-19; A Case Report 一名患有冠状病毒病-19的儿科患者的急性横贯性脊髓炎;案例报告
Q3 Medicine Pub Date : 2022-09-25 DOI: 10.5812/compreped-128417
A. Khajeh, Fatemeh Akbarirad, Maryam Keikha, Yalda Salari, Yasaman Salari
: The number of reports of the extrapulmonary manifestations of the coronavirus disease 2019 (COVID-19) is increasing in the literature. The neurological manifestations of COVID-19 in pediatric patients, however, are not well studied. Acute transverse myelitis is among the neurological manifestations usually reported with viral infections. However, the development of transverse myelitis in pediatric patients following COVID-19 is extremely rare. We report a case of acute transverse myelitis in a previously healthy 11 years old female patient with COVID-19 who was asymptomatic before the onset of weakness.
:文献中关于2019冠状病毒病(新冠肺炎)肺外表现的报告数量正在增加。然而,新冠肺炎在儿科患者中的神经表现尚未得到很好的研究。急性横贯性脊髓炎是常见于病毒感染的神经系统表现之一。然而,新冠肺炎后儿科患者发生横贯性脊髓炎的情况极为罕见。我们报告了一例急性横贯性脊髓炎病例,该病例发生在一名先前健康的11岁新冠肺炎女性患者身上,该患者在虚弱发作前无症状。
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引用次数: 0
Application of a Head-Up Tilt Table Test in Differentiation Between Epilepsy and Syncope in Children 平视倾斜试验在儿童癫痫与晕厥鉴别中的应用
Q3 Medicine Pub Date : 2022-09-10 DOI: 10.5812/compreped-128132
Meisam Babaei, M. Nasehi, M. Khalilian, Maryam Rasoulinezhad, Hossein Tavallai, Fargol Farahmandi
Background: Distinguishing between seizure and neurally mediated syncope is challenging because of similar consequences and medical history. A head-up tilt test (HUTT) is a non-invasive, simple, and easy test to distinguish between epilepsy and syncope besides detailed history taking. Objectives: This study aimed to differentiate between epileptic events and reflex syncope (any different type of syncope) using the head-upright tilt test. Methods: We studied 59 patients (37 boys and 22 girls) between 4 to 18 years old (mean age, 10.5 ± 3.7 years) with a previous diagnosis of seizure who did not respond well to treatment. All patients underwent HUTT, and the test was positive in 26 patients. There were no significant differences in sex, age, provocative factors, associated syndrome, and family history between negative and positive groups. Results: There was a history of actual syncope in 26.9% of the positive tilt test group compared to 15.15% of the negative test group. Also, there was a positive family history of syncope in the positive tilt test group. Among 26 patients with a positive tilt test, 17 were diagnosed with vasovagal syncope (VVS) vasodepressor type and 9 with mixed type. Antiepileptic drugs were tapered for patients diagnosed with VVS, and they did not show any seizures after 18 ± 6 months of follow-up. Overemphasizing positive family history and inattention to history taking are 2 crucial factors leading to the misdiagnosis of epilepsy. Conclusions: Our study showed that HUTT is a non-invasive test that can be useful, especially for early and proper diagnosis in children with refractory epilepsy.
背景:由于相似的后果和病史,区分癫痫发作和神经介导的晕厥具有挑战性。抬头倾斜试验(HUTT)是一种非侵入性、简单易行的试验,除了详细的病史记录外,还可以区分癫痫和晕厥。目的:本研究旨在通过直立倾斜试验来区分癫痫事件和反射性晕厥(任何不同类型的晕厥)。方法:我们研究了59名4至18岁(平均年龄10.5±3.7岁)的既往诊断为癫痫发作的患者(37名男孩和22名女孩),这些患者对治疗反应不佳。所有患者都接受了HUTT,26名患者的检测结果呈阳性。阴性组和阳性组在性别、年龄、刺激因素、相关综合征和家族史方面没有显著差异。结果:倾斜试验阳性组有26.9%的患者有实际晕厥史,而倾斜试验阴性组有15.15%的患者有晕厥史。此外,倾斜试验阳性组有晕厥阳性家族史。在26例倾斜试验呈阳性的患者中,17例诊断为血管迷走性晕厥(VVS)降压药型,9例诊断为混合型。对于诊断为VVS的患者,抗癫痫药物逐渐减少,随访18±6个月后没有出现任何癫痫发作。过分强调阳性家族史和忽视病史记录是导致癫痫误诊的两个关键因素。结论:我们的研究表明,HUTT是一种有用的非侵入性测试,特别是对难治性癫痫儿童的早期正确诊断。
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引用次数: 0
Establishment of Novel Non-stretched Penile Length (Flaccid) Cut-off Point and Normative Data in Iranian Prepubertal Children and its Significance: Observational Analytical Study 伊朗青春期前儿童新型非伸长阴茎长度(膨出)截断点和规范性数据的建立及其意义:观察分析研究
Q3 Medicine Pub Date : 2022-08-28 DOI: 10.5812/compreped-130095
B. Rezakhaniha, S. Siroosbakht
Background: The penile aged-matched value should be determined to define abnormal penile length. Objectives: The purpose of this study was to establish novel reference values and flaccid penis length cut-off points for prepubertal children aged 6 - 15 years. Methods: In this study, 300 micropenis children were studied. In order to assess the diagnostic test power, 300 healthy boys were also evaluated as a control group. All children were divided into ten age groups (60 boys in each group). In order to obtain a non-stretched penile length (NSPL) cut-off point, stretched penile length (SPL) and NSPL mean values were separately calculated for each age group. We subtracted these two values to get the mean difference, which was subtracted from the standard SPL cut-off point to obtain the NSPL cut-off point for each age group. The receiver operating characteristic (ROC) curve and area under the curve (AUC) were defined to assess diagnostic test power. Results: NSPL cut-off point for the age groups of 6 - 7, 7 - 8, 8 - 9, 9 - 10, 10 - 11, 11 - 12, 12 - 13, 13 - 14, 14 - 15, and 15 - 16 years was 2.8, 2.9, 2.9, 3.8, 3.9, 4.4, 4.2, 4.8, 6.6, and 8.1 cm, respectively. Sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of NSPL were 100% (95% CI, 98.53 - 100.00), 94.66% (95% CI, 89.77 - 96.28), 7.25% (95% CI, 4.64 - 11.16), 100%, and 97.33% (95% CI, 91.09 - 99.59), respectively. The AUC was 0.82, showing that the diagnostic power of the test was good. Conclusions: This study aimed to attain precise reference values of flaccid penis measurement for children. It seemed that the flaccid method is less observer-dependent, more tolerable, and repeatable. It should be mentioned that this new method does not replace the standard SPL method, while utilizing two reference values together can help to detect the size of the penis more accurately, especially in children. The new cut-off point can be used by all primary care practitioners and pediatric nurses as a reference for prepubertal boys to prevent misdiagnosis or overdiagnosis of micropenis.
背景:应确定阴茎年龄匹配值,以确定阴茎长度异常。目的:本研究的目的是为6-15岁的青春期前儿童建立新的参考值和松弛阴茎长度截止点。方法:本研究对300名儿童进行了研究。为了评估诊断测试的能力,300名健康男孩也被评估为对照组。所有儿童被分为10个年龄组(每组60名男孩)。为了获得未拉伸阴茎长度(NSPL)的分界点,分别计算每个年龄组的拉伸阴茎长度和NSPL平均值。我们减去这两个值得到平均差,从标准SPL截止点减去平均差,得到每个年龄组的NSPL截止点。定义受试者工作特性(ROC)曲线和曲线下面积(AUC)以评估诊断测试能力。结果:6-7、7-8、8-9、9-10、10-11、11-12、12-13、13-14、14-15和15-16岁年龄组的NSPL分界点分别为2.8、2.9、2.9、3.8、3.9、4.4、4.2、4.8、6.6和8.1 cm。NSPL的敏感性、特异性、阳性预测值、阴性预测值和准确度分别为100%(95%CI,98.53-100.00)、94.66%(95%可信区间,89.77-96.28)、7.25%(95%置信区间,4.64-11.16)、100%和97.33%(95%置信度,91.09-99.59)。AUC为0.82,表明该测试的诊断能力良好。结论:本研究旨在获得儿童阴茎松弛测量的精确参考值。似乎松弛的方法不那么依赖于观察者,更容易容忍,并且可重复。值得一提的是,这种新方法并没有取代标准的SPL方法,同时使用两个参考值可以帮助更准确地检测阴茎的大小,尤其是在儿童中。所有初级保健从业者和儿科护士都可以将新的分界点作为青春期前男孩的参考,以防止对微阴茎的误诊或过度诊断。
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引用次数: 1
A 15-year-old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report 15岁女孩1型毛鼻指骨综合征伴股骨非骨化性纤维瘤一例报告
Q3 Medicine Pub Date : 2022-08-12 DOI: 10.5812/compreped-129461
Aye Miremarati, Manijeh Tabrizi, Setila Dalili, Seyyedeh Azade Hoseini Nouri
Introduction: Trichorhinophalangeal syndrome (TRPS) is a sporadic autosomal dominant disorder with approximately 200 reported cases worldwide. We aimed to report a 15-year-old girl with TRPS type 1 (TRPS1) and the second reported case with a rare non-ossifying fibroma (NOF) in the distal part of her left femur. Case Presentation: We introduce a 15-year-old girl who presented to the outpatient rheumatology clinic at 17 Shahrivar Children's Hospital, Rasht, Iran, with the chief complaint of osteoarticular pain and bone deformities. She had sparse hair, a recession of the fronto-temporal hairline, and unusually thick eyebrows at the medial and abnormal sparseness of the lateral margins. Physical examination of the limbs revealed short fingers and toes with proximal interphalangeal (PIP) ulnar deviation of the second and third fingers in both hands. Shortness of the fourth fingers, especially in the right hand, and the swelling of the PIP joints of both hands were prominent. Genetic analysis showed deletion mutation in the TRPS1 gene in chromosome 8q24 compatible with TRPS1. Conclusions: Several symptoms and signs, including distinctive craniofacial features and ectodermal and skeletal abnormalities, are used for proper TRPS diagnosis. A correct and on-time diagnosis is essential to perform supportive care for the patient to prevent morbidities. Bone lesions, such as NOF1, can also be presented in TRPS1 patients and may be correlated with TRPS1 mutation. Further investigations are required on the association of the TRPS gene with NOF bone lesions.
引言:毛鼻指骨综合征(TRPS)是一种散发性常染色体显性遗传疾病,全球约有200例报告病例。我们的目的是报告一例15岁女孩TRPS1型(TRPS1)和第二例报告的左股骨远端罕见的非骨化性纤维瘤(NOF)。病例介绍:我们介绍一名15岁的女孩,她在伊朗拉什特Shahrivar儿童医院17号的风湿病门诊就诊,主要主诉为骨关节疼痛和骨畸形。她的头发稀疏,额颞发际线凹陷,内侧眉毛异常浓密,外侧边缘异常稀疏。肢体体格检查显示,手指和脚趾较短,双手第二和第三指有近端指间(PIP)尺骨偏移。第四指的短小,尤其是右手,双手PIP关节肿胀突出。遗传分析显示,与TRPS1相容的染色体8q24中的TRPS1基因发生了缺失突变。结论:一些症状和体征,包括独特的颅面特征、外胚层和骨骼异常,可用于正确的TRPS诊断。正确及时的诊断对于为患者提供支持性护理以预防疾病至关重要。骨病变,如NOF1,也可出现在TRPS1患者中,并可能与TRPS1突变有关。需要进一步研究TRPS基因与NOF骨损伤的关系。
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引用次数: 0
Paternal Breastfeeding Self-Efficacy and Infant and Young Child Feeding Practice Three Months Postpartum 父亲母乳喂养自我效能感与产后3个月婴幼儿喂养实践
Q3 Medicine Pub Date : 2022-08-01 DOI: 10.5812/compreped-126395
Seyedehzahra Kiyaeimolasaraei, S. Torkzahrani, Padideh Janati, M. Nasiri
Background: Breastfeeding benefits both mother and newborn and plays a significant role in controlling chronic diseases. Fathers' breastfeeding attitude and self-efficacy are their ability to help their partner breastfeed the newborn and appear to be among the factors that affect women’s breastfeeding. Objectives: This correlational descriptive study investigates paternal breastfeeding self-efficacy and its relationship with Infant and young child feeding practice three months postpartum. Methods: This study was performed in 2019 on 206 fathers. Fathers waited for the mother and baby outside the postpartum ward and filled out the paternal breastfeeding self-efficacy scale and demographic information questionnaire in the hospital. Three months after delivery, mothers were called and asked about Infant and young child feeding practices. The SPSS software version 23 was used for statistical analysis by the Spearman’s test, independent t-test, Pearson’s correlation coefficient, chi-squared test, and analysis of variance. Results: In the present study, 5.8% of Iranian children used formula feeding at three months of age, 74.3% were exclusively breastfed, and 19.9% received both formula feeding and breast milk. Fathers who participated in antenatal classes had a higher paternal breastfeeding self-efficacy score than the others (P = 0.003). The results showed a significant relationship between paternal cooperation in prenatal care and paternal breastfeeding self-efficacy score (P = 0.001). No correlation was found between paternal breastfeeding self-efficacy scores and infant feeding practices three months after delivery (P = 0.99). Conclusions: Fathers' attendance in antenatal classes and paternal cooperation in prenatal care can increase paternal breastfeeding self-efficacy.
背景:母乳喂养对母亲和新生儿都有好处,在控制慢性疾病方面发挥着重要作用。父亲的母乳喂养态度和自我效能感是他们帮助伴侣母乳喂养新生儿的能力,似乎是影响女性母乳喂养的因素之一。目的:本研究旨在探讨父亲母乳喂养自我效能感及其与产后3个月婴幼儿喂养方式的关系。方法:本研究于2019年对206名父亲进行了研究。父亲在产房外等候母亲和婴儿,并在医院填写父亲母乳喂养自我效能感量表和人口统计信息问卷。分娩后三个月,母亲们被打电话询问婴儿和幼儿的喂养方法。采用SPSS软件23版进行统计分析,采用Spearman检验、独立t检验、Pearson相关系数、卡方检验和方差分析。结果:在本研究中,5.8%的伊朗儿童在三个月大时使用配方奶喂养,74.3%的儿童采用纯母乳喂养,19.9%的儿童同时使用配方奶和母乳喂养。参加产前班的父亲的母乳喂养自我效能得分高于其他父亲(P = 0.003)。结果显示,父方产前护理配合与父方母乳喂养自我效能感得分存在显著相关(P = 0.001)。产后3个月父亲母乳喂养自我效能评分与婴儿喂养方式无相关性(P = 0.99)。结论:父亲参加产前辅导班和父亲在产前护理中的配合可提高父亲母乳喂养自我效能感。
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引用次数: 1
Overweight and Obesity Prevalence in Iranian Children Aged 8 - 12 Years; A Study in Tehran 伊朗8-12岁儿童超重和肥胖患病率;德黑兰研究
Q3 Medicine Pub Date : 2022-07-30 DOI: 10.5812/compreped-120827
F. Soheilipour, M. Pishgahroudsari, A. Pazouki
Background: Childhood overweight and obesity are public health concerns. It is essential to examine the prevalence of overweight and obesity for effective planning and efficient use of resources in the health system. Objectives: The present study’s objective was to investigate the prevalence of overweight and obesity in children aged 8 to 12 years in Tehran, Iran. Methods: In this cross-sectional study, 829 primary school children in Tehran were included. An investigator administered a checklist to collect the relevant data, and anthropometric measurements were performed using standard procedures. We used the World Health Organization’s (WHO) child growth standards to assess overweight and obesity among children. The Chi-square test was used to analyze categorical variables, and statistical significance was confirmed at P < 0.05. Results: Of the students, 366 (44.1%) were boys, and 463 (55.9%) were girls. The prevalence of overweight and obesity were 20.6% and 14.6%, respectively. The prevalence of obesity was higher among boys than among girls (19.4% vs. 10.8%); the highest prevalence of obesity was observed among 9-year-old children. No relationship was identified between the type of school and the prevalence of obesity (P = 0.33). Conclusions: Childhood overweight and obesity were relatively prevalent among 8 - 12-year-old children. So, obesity should be considered a serious health problem in Tehran, requiring more care and interventions to prevent an epidemic of obesity among Iranian children.
背景:儿童超重和肥胖是公众关注的问题。为了有效规划和有效利用卫生系统中的资源,检查超重和肥胖的流行率至关重要。目的:本研究的目的是调查伊朗德黑兰8-12岁儿童超重和肥胖的患病率。方法:在这项横断面研究中,纳入了德黑兰829名小学生。一名研究人员使用检查表收集相关数据,并使用标准程序进行人体测量。我们使用世界卫生组织(世界卫生组织)的儿童生长标准来评估儿童的超重和肥胖。采用卡方检验对分类变量进行分析,统计学意义显著(P<0.05)。结果:男生366人(44.1%),女生463人(55.9%)。超重和肥胖的患病率分别为20.6%和14.6%。男孩的肥胖率高于女孩(19.4%对10.8%);肥胖患病率最高的是9岁儿童。学校类型与肥胖患病率之间没有关系(P=0.33)。结论:儿童超重和肥胖在8-12岁儿童中相对普遍。因此,在德黑兰,肥胖应该被视为一个严重的健康问题,需要更多的护理和干预措施来防止肥胖在伊朗儿童中流行。
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引用次数: 1
Effect of Metformin or Vitamin E on Ultrasonographic Grade and Biochemical Findings of Children and Adolescents with Nonalcoholic Fatty Liver Disease: A Randomized Clinical Trial 二甲双胍或维生素E对儿童和青少年非酒精性脂肪肝超声分级及生化指标的影响:一项随机临床试验
Q3 Medicine Pub Date : 2022-06-27 DOI: 10.5812/compreped-123944
A. Homaei, Maaz Alhadad, B. Arad, F. Saffari
Background: Nonalcoholic fatty liver disease (NAFLD) is the most frequent form of liver disease in children, defined as the infiltration of fat into more than 5% of liver cells with metabolic syndrome consisting of dyslipidemia, insulin resistance, and obesity. Objectives: This study aimed to assay the effect of metformin or vitamin E on ultrasonographic grade and biochemical findings of children and adolescents with NAFLD. Methods: This clinical trial was performed on 150 non-diabetic obese children with NAFLD in the age range of 10 to 14 in Qazvin, Iran, during 2018 - 2019. The participants were randomly assigned to three groups: group 1 was treated with metformin at a dose of 500 mg twice daily for three months; group 2 received vitamin E at a dose of 400 units twice daily; and group 3 received a placebo. In addition, all the three groups were given the same proper diet and advised to increase their physical activity. SPSS software version 23 was used to analyze the data. Results: After the intervention, in groups receiving metformin and vitamin E, the grades of fatty liver decreased significantly (P < 0.05), and the decrease was more significant in the group receiving metformin. Conclusions: Insulin resistance is one of the critical factors in the development of nonalcoholic fatty liver disease. By reducing insulin resistance with drug treatment, desirable results can be achieved.
背景:非酒精性脂肪性肝病(NAFLD)是儿童中最常见的肝脏疾病,定义为脂肪浸润超过5%的肝细胞,伴有代谢综合征,包括血脂异常、胰岛素抵抗和肥胖。目的:本研究旨在探讨二甲双胍或维生素E对儿童和青少年NAFLD超声分级和生化指标的影响。方法:本临床试验于2018 - 2019年在伊朗Qazvin的150名年龄在10至14岁的非糖尿病肥胖NAFLD儿童中进行。参与者被随机分为三组:第一组接受二甲双胍治疗,剂量为500 mg,每天两次,持续三个月;第二组给予维生素E 400单位,每日两次;第三组服用安慰剂。此外,所有三组都给予相同的适当饮食,并建议他们增加体育活动。采用SPSS软件23版对数据进行分析。结果:干预后,二甲双胍组和维生素E组脂肪肝分级均显著降低(P < 0.05),且二甲双胍组降低更为显著。结论:胰岛素抵抗是非酒精性脂肪性肝病发生发展的关键因素之一。通过药物治疗降低胰岛素抵抗,可以达到理想的效果。
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引用次数: 2
An Update on the Oculocerebrorenal Syndrome of Lowe: A Review Article 罗氏眼-脑肾综合征的最新进展:综述文章
Q3 Medicine Pub Date : 2022-06-22 DOI: 10.5812/compreped-117326
M. Akhavan Sepahi, Reza Razavi
Context: Lowe syndrome (LS) is a very uncommon syndrome that causes the death of young patients due to kidney diseases. This narrative review aimed to assess the clinical manifestations of LS, mainly the novel investigations of LS, to provide an update on the clinical manifestations improving the misdiagnosis of LS. Methods: For this narrative review, the articles from several sources, including Scopus, Google Scholar, Embase, Web of Science, PubMed, and the Directory of Open Access Journals, were used. Discussion: This syndrome is heredity and a multiple system disorder with the three main symptoms of renal tubular dysfunction, mental retardation, and cataracts. Other features include growth retardation, behavioral problems, stereotypical behavior, areflexia, severe muscular hypotonia, intellectual disability, nontender joint swelling, subcutaneous nodules, potassium loss, sodium loss, renal dysfunction, aminoaciduria, bicarbonaturia, and low-molecular-weight proteinuria. An X-linked recessive pattern inherits this syndrome. The hereditary transmission of this syndrome is X-linked recessive. Conclusions: It is essential to investigate the diverse clinical manifestations of LS. The prognosis and severity of the disease have not yet been determined. It is recommended to perform extensive general studies on the prevalence, diagnosis, and management of this syndrome.
背景:Lowe综合征(LS)是一种非常罕见的综合征,可导致年轻患者死于肾脏疾病。这篇叙述性综述旨在评估LS的临床表现,主要是LS的新研究,以提供临床表现的最新情况,改善LS的误诊。方法:在这篇叙述式综述中,使用了来自多个来源的文章,包括Scopus、Google Scholar、Embase、Web of Science、PubMed和开放获取期刊目录。讨论:该综合征是一种遗传性多系统疾病,主要症状有肾小管功能障碍、智力迟钝和白内障。其他特征包括生长迟缓、行为问题、刻板行为、灵活性减退、严重肌肉张力减退、智力残疾、非末端关节肿胀、皮下结节、钾丢失、钠丢失、肾功能障碍、氨基酸尿、碳酸氢盐和低分子量蛋白尿。X连锁隐性遗传型遗传该综合征。该综合征的遗传性传播是X连锁隐性遗传。结论:研究LS的多种临床表现是至关重要的。该疾病的预后和严重程度尚未确定。建议对该综合征的患病率、诊断和管理进行广泛的一般性研究。
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引用次数: 0
Scimitar Syndrome in a Newborn 新生儿的弯刀综合征
Q3 Medicine Pub Date : 2022-06-17 DOI: 10.5812/compreped-124204
Mahdi Mazandarani, Ali Ahani Azari, Narges Lashkarbolouk, Lobat Shahkar
Introduction: Scimitar syndrome is a rare congenital condition that is usually presented in two major types, the infantile type as a severe condition with a poor outcome (median age: 2 months) and the adult type with a better condition and good outcome. It also has a wide spectrum of clinical presentations, from being asymptomatic in the adult type to cardiac and respiratory failure and pulmonary hypertension in the infantile type. Case Presentation: In this case report, we present a 43-day-old female case referred to Taleghani Children Hospital, Gorgan, Iran, with respiratory symptoms. In a physical examination, the case had a grade II/VI murmur, dextrocardia, and respiratory distress. In evaluations, the patient had severe stenosis proximal to the left common carotid artery after its origin. The heart and mediastinum were displaced to the right side, and the thoracic aorta was normal in size and orientation. bovine type of supra-aortic arch branches in the left-sided aortic arch, hypoplasia of the right upper lobe with severe hypoplasia of the right lower lobe were seen as well. There was sequestration adjacent to the right lower lobe with a dual feeder artery directly from the abdominal aorta and celiac branch and dual draining veins. Partial anomalous pulmonary venous connection was detected in the neck, and mediastinal computed tomography (CT) angiography with reconstructed views.. Bronchoscopy revealed right main bronchus hypoplasia and right lower lobe hypoplasia. Then, with the help of angiography, scimitar syndrome diagnosis was confirmed for the patient. Conclusions: Although scimitar syndrome is an uncommon condition, it has serious complications and poor outcomes in some patients. It is necessary to be aware of this rare congenital condition and use helpful methods, such as CT angiography and angiography, to confirm the diagnosis.
引言:弯刀综合征是一种罕见的先天性疾病,通常有两种主要类型,婴儿型是一种严重的疾病,预后较差(中位年龄:2个月),成人型是一个病情较好、预后良好的疾病。它也有广泛的临床表现,从成人型的无症状到婴儿型的心脏和呼吸衰竭以及肺动脉高压。病例介绍:在本病例报告中,我们介绍了一名43天大的女性病例,她被转诊到伊朗戈尔根的Taleghani儿童医院,有呼吸道症状。在体格检查中,该病例有II/VI级杂音、右位心和呼吸窘迫。在评估中,患者起源后左颈总动脉近端出现严重狭窄。心脏和纵隔移位至右侧,胸主动脉大小和方向正常。左侧主动脉弓出现牛型主动脉弓上支,右上叶发育不全,右下叶严重发育不全。右下叶附近有一条直接来自腹主动脉和腹腔分支的双供血动脉和双引流静脉。颈部发现部分异常肺静脉连接,纵隔计算机断层扫描(CT)血管造影术显示重建视图。。支气管镜检查显示右主支气管发育不全,右下叶发育不全。然后,在血管造影术的帮助下,确认了患者的弯刀综合征诊断。结论:尽管弯刀综合征是一种罕见的疾病,但在一些患者中,它有严重的并发症和不良的预后。有必要意识到这种罕见的先天性疾病,并使用有用的方法,如CT血管造影和血管造影术,来确认诊断。
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引用次数: 0
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Journal of Comprehensive Pediatrics
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