Metabolic liver diseases in childhood

Conclusion In virtually all forms of presentation of liver disease in childhood the diagnosis of the metabolic liver disease should be made promptly as most metabolic diseases can result in severe liver damage and death if undiagnosed and may be amenable to some form of specific therapy or ultimately liver transplantation if no specific therapy is available.     

Ultrasound findings in childhood chronic liver parenchymal diseases

Forty-one children with liver disease were studied by ultrasound scan at King Khalid University Hospital, Riyadh, Saudi Arabia. Diagnoses were confirmed either by liver biopsy or specific laboratory tests. Sonograms were studied for liver size, beam penetration, echogenecity, vascularity, and biliary tree abnormalities. Different liver diseases, such as chronic hepatitis, biliary cirrhosis, Wilson’s disease, familial idiopathic cirrhosis, type III glycogen storage disease, and secondary haemochromatosis revealed non-specific disease patterns. Four cases of biliary cirrhosis and two cases of glycogen storage disease showed periportal fibrosis. Two cases of familial idiopathic cirrhosis and a case of Wilson’s disease revealed thickening of the gall bladder wall, which has not been described in the literature.     

儿童脑血管疾病的分类与诊断

卒中在儿童中发病率相对较低,但却是导致儿童病死率增高的重要原因.明确病因及诊断有利于早期干预并改善预后.与成人卒中发病主要由于动脉粥样硬化不同,儿童卒中病因常常是多种多样的,而针对某一特定病因来说,又是相对少见的.近十年来,随着诊断技术的提高,进一步确证了针对儿童卒中新的病因,并制定了相应的卒中诊断定义术语系统.当然,在将来的研究中需要更多着手于儿童卒中诊断方面的评估.     

肝脏活检在小儿肝病诊治中的应用

肝脏疾病是我国常见病、多发病,也是我国疾病防治的重要对象。尽管先进的医疗仪器不断引进和更新,血清学诊断技术不断改进,但许多疾病仍难以明确诊断,甚至在患儿死后仍不能明确诊断。各种临床检查的局限性使许多医生试图以其替代肝活检这种创伤性操作的可能性减少,形态学仍是判定肝脏病变及其程度的可靠依据,但单凭肝活检组织学诊断也有其局限性和非特异性,只有结合完整的临床资料才能对复杂病例做出正确的诊断。1　肝脏活检的重要性和局限性在小儿肝病中约5 %～10 %、婴儿肝病中高达30 %的病例病因不明。许多患儿因漏诊得不到正确及时的治…     

儿童呼吸道感染性疾病和哮喘诊治的挑战

新型冠状病毒肺炎的暴发流行告诫我们必须关注病毒源性的呼吸道感染,特别是人畜共患的传染病。正视碳青霉烯类耐药细菌感染的严峻性的同时应关注非典型微生物及其感染。我国儿童哮喘的诊断问题尚未完全解决,应从评估哮喘控制水平、注意环境对哮喘发病的影响以及合理使用现有的哮喘治疗药物等诸多方面提高儿童哮喘的防治水平。     

Advances in diagnosis of chronic liver diseases in pediatric patients

Background

Chronic liver diseases (CLD) present important clinical problem in children with various age-dependent causes. Nonalcoholic fatty liver disease (NAFLD) with its increasing prevalence is a major problem with regard to its timely recognition and the need for long-term disease monitoring. At present, a perfect non-invasive method for the evaluation of liver fibrosis is not available.

Methods

A non-systematic literature search was performed to summarize the current knowledge about transient elastography (TE) with controlled attenuation parameter (CAP) in children with CLD. Ovid MEDLINE, Ovid EMBASE, Google scholar, and The Cochrane Library databases were searched for relevant articles evaluating TE in the pediatric population.

Results

Normal values of liver stiffness measurements (LSM) according to the age are given, as well as the advantages and disadvantages of the method. The utility of TE in specific liver disease in pediatric population is summarized.

Conclusions

TE with CAP is a valuable non-invasive method for the liver-damage assessment. Clinical interpretation of TE results should be made in parallel with the assessment of the patient’s demographics, disease etiology, and essential laboratory parameters.

     

Lobar emphysema. Important differential diagnosis of obstructive lung diseases in childhood

The lobar emphysema is characterised by a lobe-restricted overinflation combined with dislocation of the neighbouring organs. Surgical treatment is indicated because of the high mortality by waiting and conservative treatment. Differential diagnosis has to exclude other causes for overinflation as atelectasis with compensated emphysema, diaphragmatic hernia, and stenotic changing of the tracheobronchial tree and others. In the course of a retrospective study of 6350 thoracotomies (1978-1988) out of 198 patients with congenital malformations of the lungs 5 (2.5%) children less than 5 years were found to have undergone surgical therapy because of lobar emphysema. Five patients were found with additional malformations in four patients this was held to be the cause. All patients were dyspnoeic at the time of operation. The most important diagnostic procedure was the routine x-ray of the chest and fluoroscopic examination. In 4 patients surgical treatment consisted in lobectomy, in one patient segmental resection was sufficient. There was no 30-day-mortality, postoperative recovery was uneventful in all patients.     

全外显子组测序:儿童疾病诊断新思路

<正>纵观人类遗传学的发展,不断有新兴技术被运用于疾病病因的研究中。从各种流行病学研究设计到如今广泛采用的以假说为导向的候选基因法[1],从以家庭为基础的遗传连锁研究[2~4]到全基因组关联研究(GWAS)[5~8],虽然这些方法均能在不同程度上反映疾病的遗传易感性,但仍不可避免地存在许多限制[9~13]。而人类基因组图谱的完成和新一代高通量测序技术的出现,为疾病病因的研究提供了全新的思路[14]。外显子组序列仅占全基因组序列的     

Consent and public engagement in an era of expanded childhood immunisation

Childhood immunisation programmes have seen well-heralded successes in disease control. An increasing number of scheduled vaccines, narrowing risk-benefit ratios and public attention to vaccine safety raise new questions about consent. We first explore the challenges that this highly dynamic environment poses for valid consent. Then, we broaden this discussion to wider public engagement by suggesting how the public - the bearers of vaccine risk and benefit - can be better involved in immunisation policy.