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Walker-Warburg Syndrome: A Case report of Congenital Muscular Dystrophy with Cerebro-Ocular Malformation, a Rare Syndrome in an African Patient Walker-Warburg综合征:先天性肌营养不良伴脑眼畸形的病例报告,一种罕见的综合征在非洲患者
Pub Date : 2019-01-01 DOI: 10.26502/jppch.74050016
Insiyah A Amiji, Maria N Bulimba, Zawadi E Kalezi, Janeth Fidelis Tarimo, Karim P Manji
Walker-Warburg Syndrome is a genetically heterogeneous disease with autosomal recessive inheritance presenting with congenital muscular dystrophy with cerebro-ocular malformations since birth or infancy. Literature shows a mutation in Protein O-Mannosyltransferase 1 (POMT1) gene, which results in a defect in O-mannosylation of α-dystroglycan, these proteins are central to the pathogenesis of structural and functional brain abnormalities however, the exact pathophysiology of this disorder is not fully understood. The overall incidence still remains unknown and most cases have been reported from the Western hemisphere. In our setting we report a case of 3 weeks old male baby who was delivered by spontaneous vertex delivery at gestation age of 26 weeks with birth weight of 1900 gm referred to our hospital on the 6th day of life, with complaint of bilateral prominent, protruding eyes and inability to close the eyelids. The parents were non-consanguineous and this was the first child. No ante- natal ultrasound was done during the pregnancy. On further examination, he had macrocephaly 33 cm (>97th centile) with no fusion of the sutures, depressed nasal bridge, low set ears, bilateral dental lamina cyst, bilateral cortical thumb, micrognathia, and scoliosis. Systemic examination revealed a normal conscious level with weak cry, normal facial symmetry, generalized hypotonia and primitive reflex were weak to absent and ocular examination revealed bupthalmos, bilateral megalocornea and glaucoma. Creatine kinase was elevated-522 unit/L (0-25 units/L). Cranial Ultrasound revealed Dandy-Walker cyst in the posterior fossa cyst, with third ventricle dilatation (ventriculomegally), the corpus callosum was normal, Interventricular hemorrhage grade 2 and hyper echogenic eyeballs. Echocardiography revealed Double Outlet Right Ventricle. Management was supportive, aimed to improve growth through optimum feeding, eye padding for protection and diuretics for the underlying congenital heart disease.Conclusion: Overall prognosis of this disease is poor, the baby died in 42 days due to aspiration pneumonia and progressive respiratory failure. Genetic counselling was done to the parents, since in families with one affected child, the risk of having another child with the disease is 25%. A high index of suspicion during a routine antenatal ultrasound could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling.
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引用次数: 0
Report of a Case of Thrombocitopenic Syndrome with Radius Aplasia with a 16 Year Follow up in Celaya, Mexico, and Review of Literature 墨西哥塞拉亚1例伴桡骨发育不全的血小板减少综合征16年随访报告及文献复习
Pub Date : 2019-01-01 DOI: 10.26502/jppch.74050013
R. Puente, P. Rogelio, Daniela Rico Medina, V. Guarner-Lans, O. Grimaldo
There are numerous published works on thrombocytopenic syndrome with radius aplasia. Most of them refer to cases or families with several affected individuals without giving them follow-up. Here we report the follow up of a patient with the syndrome. The clinical manifestations found in the patient are not classical since thrombocytopenic syndrome with Radius Aplasia does not usually have bilateral agenesis of radius and ulna at birth as is shown in this case. In addition, the musculoskeletal manifestations in this patient were present 16 years afterwards. Therefore, the phenotypic expression of this syndrome in the present case is of great interest.
有许多关于血小板减少综合征伴桡骨发育不全的出版物。其中大多数涉及病例或有几个受影响个人的家庭,而没有对他们进行后续调查。在此,我们报告一位患者的随访。该患者的临床表现并不典型,因为伴桡骨发育不全的血小板减少综合征在出生时通常没有双侧桡骨和尺骨发育不全,如本病例所示。此外,该患者的肌肉骨骼表现在16年后出现。因此,本病例中该综合征的表型表达是非常有趣的。
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引用次数: 0
Healthcare Disparities in the Treatment of Pediatric Distal Radius-Ulna Fractures: A Single-Institution Perspective 儿童桡骨-尺骨远端骨折治疗的医疗差异:单一机构视角
Pub Date : 2019-01-01 DOI: 10.26502/jppch.74050020
Andrew S. Moon, Thomas E Niemeier, Charles C. Pitts, G. McGwin, J. Khoury
Background: This study sought to identify variables associated with socioeconomic disparities in the treatment of distal forearm fractures in children. Methods: A single-institution retrospective cohort study of patients less than 18 years of age with isolated fractures of the distal radius and ulna. Patient included underwent a closed reduction and casting under sedation by an orthopedic resident with outpatient, clinical follow up within two weeks of injury. Demographic data were collected. Primary outcomes evaluated were the final fracture alignment and rate of surgical treatment. Results: 177 children included in this study, including 105 with private insurance and 72 with Medicaid or no insurance, 129 were white and 48 were minorities, and 51 were female while 126 were male. There were no statistically significant differences between patient groups when assessed for treatment outcome, mean fracture displacement, time to first clinic appointment, and duration of follow-up. Rates of surgical treatment between all groups tested were non-significant. Of patients that met institutional operative criteria, a lower percentage of non-white (p=0.03), male (p=0.07), and non-private insurance patients (p=0.08) received surgery when surgery was indicated compared to white female patients with insurance. Conclusions: At a single institution, no clear disparities in the overall care and outcomes of children with distal radius and ulna fractures were identified. When surgery was indicated by institutional standards, a significantly greater percentage of white patients underwent surgery when compared to non-whites, but no significant difference in the percentage of good, fair, and poor outcomes between these groups was seen.
背景:本研究旨在确定儿童前臂远端骨折治疗中与社会经济差异相关的变量。方法:对年龄小于18岁的孤立性桡骨和尺骨远端骨折患者进行单机构回顾性队列研究。患者在镇静下接受骨科住院医师的闭合复位和铸造,并在受伤后两周内进行门诊和临床随访。收集了人口统计数据。评估的主要结果是最终骨折对齐和手术治疗率。结果:本研究共纳入177名儿童,其中有私人保险105名,有医疗补助或无医疗保险72名,白人129名,少数民族48名,女性51名,男性126名。在评估治疗结果、平均骨折移位、首次门诊预约时间和随访时间时,两组患者之间无统计学差异。两组间的手术治疗率无显著性差异。在符合机构手术标准的患者中,非白人(p=0.03)、男性(p=0.07)和非私人保险患者(p=0.08)在需要手术时接受手术的比例低于白人女性保险患者。结论:在单一机构中,桡骨和尺骨远端骨折患儿的整体护理和预后没有明显差异。当手术符合制度标准时,与非白人患者相比,白人患者接受手术的比例明显更高,但两组患者在良好、一般和不良结果的百分比上没有显著差异。
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引用次数: 3
Home Respiratory Polygraphy-An Alternative for the Diagnosis of Pediatric Obstructive Sleep Apnea Syndrome 家庭呼吸测谎——儿童阻塞性睡眠呼吸暂停综合征的另一种诊断方法
Pub Date : 2019-01-01 DOI: 10.26502/jppch.74050027
Cristina Nicoleta Tiboc, S. Man, V. Sas, G. A. Filip
Obstructive sleep apnea syndrome is one of the most common types of sleep-disordered breathing in children and is characterized by partial or complete obstruction of the upper airways during sleep with repeated episodes of airflow cessation, reduction in blood oxygen saturation and sleep disruption to restore patency of the upper airways. Because polysomnography, the gold-standard test for the diagnosis of obstructive sleep apnea, is a costly procedure with technical difficulties, home respiratory polygraphy is used as an alternative diagnostic method. This review seeks to summarize the utility of home respiratory polygraphy in detecting obstructive sleep apnea syndrome and to show if it can be used as a substitute for polysomnography in children.
阻塞性睡眠呼吸暂停综合征是儿童最常见的睡眠呼吸障碍类型之一,其特征是睡眠时上呼吸道部分或完全阻塞,反复发作气流停止,血氧饱和度降低和睡眠中断,以恢复上呼吸道通畅。由于多导睡眠描记术是诊断阻塞性睡眠呼吸暂停的金标准测试,是一项昂贵且技术困难的程序,因此家庭呼吸测谎术被用作替代诊断方法。本综述旨在总结家庭呼吸测谎仪在检测阻塞性睡眠呼吸暂停综合征中的应用,并表明它是否可以作为儿童多导睡眠图的替代品。
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引用次数: 0
Knowledge of Diabetic Patients towards Diabetes Mellitus in a Sample of Patients Attending Diabetes and Endocrine Center 在糖尿病与内分泌中心就诊的糖尿病患者对糖尿病认知的调查
Pub Date : 2019-01-01 DOI: 10.26502/jppch.7405009
Khalida Saad
Background: Diabetes is a chronic disease that affects people and requires the continuation of medical treatment and follow-up, which is a widespread disease at all the time and places in the world. Aims: To assess the knowledge level of participants towards diabetic mellitus and found any relation between variables. Methods: A cross-sectional descriptive study was conducted in Diabetes and endocrine center in Baghdad for a period started from February 2018 up to July 2018. In this study (150) diabetic patients from different age categories, both males and females, were included in the study. The data analysis through descriptive and chi- square statistical analysis by using soft STATA version 13. Results: The mean age of participants were 40.8 and SD 0.94 with 95% CI [39.0155-42.7310]. 52 (34.7%) in the age groups (40-49) years old, 86 (57.3%) were males, live in urban area were 128 (85.3%), employed 45 (30%), married 105 (70%), 38 (25.3%) were elementary school. Not statistically significant has been found between the type of diabetic and gender with the knowledge level toward diabetic. Conclusions: Most participants had type II diabetes mellitus and family history; the participants had a moderate Knowledge levels towards diabetes. Significant association has been found between the knowledge level of diabetic with the age groups and type of therapy. Assist patient to determine amount of food, drink, or glucose tablets; also, education and guidance are provided to patients to identify risks for hypoglycemia and hyperglycemia and appropriately treat hypoglycemia to avoid unnecessary caloric intake and weight gain.
背景:糖尿病是一种影响人的慢性疾病,需要持续的药物治疗和随访,是世界上任何时间和地方普遍存在的疾病。目的:了解被试对糖尿病的认知程度,并探讨变量间的关系。方法:2018年2月至2018年7月,在巴格达糖尿病和内分泌中心进行了一项横断面描述性研究。本研究共纳入150例不同年龄段的糖尿病患者,包括男性和女性。数据分析采用描述性和卡方统计分析,采用STATA软件进行统计分析。结果:参与者的平均年龄为40.8岁,SD为0.94,95% CI[39.0155-42.7310]。40-49岁年龄组52人(34.7%),男性86人(57.3%),城区居住128人(85.3%),在职45人(30%),已婚105人(70%),小学38人(25.3%)。糖尿病类型、性别与糖尿病知识水平之间无统计学差异。结论:大多数参与者有2型糖尿病和家族史;参与者对糖尿病有中等程度的了解。糖尿病知识水平与年龄、治疗方式有显著相关性。协助患者确定食物、饮料或葡萄糖片的用量;同时对患者进行教育和指导,识别低血糖和高血糖的风险,适当治疗低血糖,避免不必要的热量摄入和体重增加。
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引用次数: 0
Factors Affecting Mortality in the Transfusion of Concentrate of Hemacies in Pediatric Patients: A Systematic Review 影响儿科患者输血血精死亡率的因素:一项系统综述
Pub Date : 2019-01-01 DOI: 10.26502/jppch.74050030
Eduardo Manoel Pereira, Woryk de Souza Schröder Nowak, Caciano Vinicius Krenchinski, Lucas Renato Rocha
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引用次数: 0
Embolic Stroke and Carotid Artery Occlusion in an Infant with Dilated Cardiomyopathy Secondary to Acute Myocarditis 急性心肌炎继发扩张型心肌病婴儿的栓塞性卒中和颈动脉闭塞
Pub Date : 2019-01-01 DOI: 10.26502/jppch.74050017
W. Al-Twaijri, Fahad Al-Bassam, Tala Al-Bassri
We are reporting on an 11-month-old infant girl with two interesting findings. The first is dilated cardiomyopathy following an acute clinical course, which on presentation suggested acute myocarditis; two-dimensional echocardiographic findings showed severely-dilated left atrial and ventricular chambers as well as severe ventricular dysfunction. The second is the occurrence of right-sided middle cerebral artery stroke, with clinical manifestations of sudden onset left-sided hemiparalysis, secondary to right carotid artery occlusion. To the best of our knowledge, there is no previous report in the literature of this condition within a similar age group.
我们正在报道一个11个月大的女婴,有两个有趣的发现。第一种是急性临床病程后的扩张型心肌病,表现为急性心肌炎;二维超声心动图显示左房室和心室严重扩张以及严重的心室功能障碍。二是发生右侧大脑中动脉卒中,临床表现为突发性左侧偏瘫,继发于右侧颈动脉闭塞。据我们所知,以前的文献中没有类似年龄组的这种情况的报道。
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引用次数: 0
Klippel-Feil Syndrome with Meningiocele and Chiari malformation-A Case Report Klippel-Feil综合征合并脑膜膨出和Chiari畸形1例报告
Pub Date : 2019-01-01 DOI: 10.26502/jppch.74050012
N. Zwn, Al-Gburi Sm, Al-Azzawe Hs
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引用次数: 0
An Audit of Neonates Admitted to the Paediatric General Ward in a Tertiary Hospital, in South Africa 对南非一家三级医院儿科普通病房收治的新生儿的审计
Pub Date : 2019-01-01 DOI: 10.26502/jppch.74050014
T. Ramdin, Mphelekedzeni C. Mulaudzi, D. Ballot
South Africa is one of the countries in which neonatal mortality has remained the same or decreased slowly over the past 20 years. Many newborns are discharged after birth and readmitted within a few days. The Integrated management of childhood and neonate illness (IMCNI) guidelines uses seven danger signs to identify sick young infants. Aim: The aim of the study was to determine the profile and outcome of neonates admitted to the general paediatric wards at Charlotte Maxeke Johannesburg Academic Hospital (CMJAH). Methodology:Audit of all newborns (<28days) admitted to the general wards from 1 January 2011 to 30 April 2011. Results: A total of 75 neonates were admitted with a mean weight of 3.2 kg (SD 0.65). The majority of neonates 41/75 (54.6%) were male and 21/75 (28%) were Human Immunodeficiency Virus (HIV)-exposed. In the HIV-exposed group only 16/21 (76%) were on HIV prophylaxis. The most important clinical signs were tachypnoea (RR>60) 34 (46.6%) and jaundice 30 (41.1%). Most neonates, 45 (61%) were referred from the local clinic. The most common diagnoses were bronchopneumonia (BRPN) 22 (29.3%), neonatal sepsis (NNS) 27 (36%) and jaundice 20 (26.7%). Two patients died (2.7%) from NNS and BRPN. Conclusions: A proportion of the neonates are admitted from home to the general paediatric ward with mostly NNS, BRPN and jaundice. Although the mortality is low, admission to a neonatal ward may be more appropriate. IMCNI guidelines remain the most sensitive indicator of the need for admission, and “routine” investigations are often a non-contributor.
南非是过去20年来新生儿死亡率保持不变或缓慢下降的国家之一。许多新生儿在出生后出院,并在几天内再次入院。儿童和新生儿疾病综合管理(IMCNI)指南使用七个危险信号来识别患病的幼儿。目的:本研究的目的是确定夏洛特马克科约翰内斯堡学术医院(CMJAH)普通儿科病房收治的新生儿的概况和结局。方法:所有新生儿(60例)34例(46.6%),黄疸30例(41.1%)。大多数新生儿,45(61%)从当地诊所转诊。最常见的诊断是支气管肺炎(BRPN) 22例(29.3%),新生儿败血症(NNS) 27例(36%)和黄疸20例(26.7%)。2例(2.7%)患者死于NNS和BRPN。结论:有一定比例的新生儿从家中被送往普通儿科病房,主要是神经性神经症、BRPN和黄疸。虽然死亡率很低,但入住新生儿病房可能更合适。IMCNI指南仍然是判断是否需要入院的最敏感指标,而“常规”检查往往不起作用。
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引用次数: 0
Determination of Neonatal Hearing Loss Related to the Use of Amikacin in Patients with Neonatal Sepsis through Screening with Otoacoustic Emissions in the General Hospital of San Jose Iturbide, Guanajuato, Mexico 墨西哥瓜纳华托州圣何塞伊图尔比德总医院耳声发射筛查新生儿败血症患者阿米卡星使用相关的新生儿听力损失
Pub Date : 2019-01-01 DOI: 10.26502/jppch.74050015
O. Grimaldo, Antonio Rocha Garcia, Daniela Rico Medina, Irma Puga Calderón, Verónica Guarner Lans
Hearing loss is an important problem during childhood, since the intellectual and social development of the child is closely linked to auditory afferences to the central nervous system. The disabling potential of hearing loss depends to a large extent on the precocity with which the diagnosis is made and the time when treatment and rehabilitation is initiated. The evaluation to identify hearing loss in neonates using otoacoustic emissions as a screening method has a sensitivity of 91% and a specificity of 85%, being ideal in this population group. Here we report a descriptive study on neonatal hypoacusia related to treatment with Amikacin done in the Neonatology Unit of the Department of Pediatrics of the General Hospital, San José Iturbide, Gto during the period comprised from January 2016 to October 2018. Fifty five patients were included who had undergone neonatal sepsis and received Amikacin at a dose of 12 mg / kg / day for a variable number of days (7 to 21) according to medical indication. Auditory screening with Otoacoustic Emissions was performed, observing that in 48/55 cases the test was approved (“approved”), and 7/55 cases did not approve the test (“failed”). In the "failed" group, a second evaluation was made with Otoacoustic Emissions, 3 months later. 7/55 patients were reassessed, finding that 6/55 patients now approved the test while only 1/55 cases failed the test. Therefore, the incidence of neonatal hearing loss associated with Amikacin therapy in patients with neonatal sepsis was of 1/55 cases. J Pediatr Perinatol Child Health 2019; 3 (2): 061-068 DOI: 10.26502/jppch.74050015 Journal of Pediatrics, Perinatology and Child Health 62
听力损失是儿童时期的一个重要问题,因为儿童的智力和社会发展与对中枢神经系统的听觉影响密切相关。听力损失的致残潜力在很大程度上取决于诊断的过早以及开始治疗和康复的时间。使用耳声发射作为筛查方法来识别新生儿听力损失的评估灵敏度为91%,特异性为85%,在这一人群中是理想的。在此,我们报告了2016年1月至2018年10月期间在圣何塞·伊图尔比德总医院儿科新生儿科进行的与阿米卡星治疗相关的新生儿耳聋的描述性研究。55例新生儿败血症患者接受阿米卡星治疗,剂量为12mg / kg /天,根据医学适应证接受不同天数(7至21天)的治疗。使用耳声发射进行听觉筛查,观察到48/55例测试被批准(“批准”),7/55例不批准测试(“失败”)。在“失败”组中,3个月后用耳声发射进行第二次评估。重新评估了7/55的患者,发现6/55的患者现在批准了该测试,而只有1/55的患者未通过该测试。因此,新生儿败血症患者阿米卡星治疗相关新生儿听力损失的发生率为1/55。[J]儿科围产期儿童健康;3 (2): 061-068 DOI: 10.26502/jppch.74050015儿科,围产期和儿童健康杂志62
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Journal of pediatrics, perinatology and child health
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