Respiratory virus infections

The respiratory tract is a frequent site of infection with a wide range of viruses. Each family of viruses can cause differing clinical syndromes depending on the age of the patient and the immune response. As a corollary, different clinical syndromes can be caused by different families of viruses.     

Overview of nontuberculous mycobacterial disease in children

Nontuberculous mycobacteria (NTM) are ubiquitous organisms in our surrounding environment. Four distinct clinical syndromes associated with NTM infection have been described: skin and soft tissue disease, lymphadenitis, disseminated disease and pulmonary disease. In children, lymphadenitis is the most common NTM clinical entity, particularly affecting those aged 1–5 years who have no known risk factors for disease. Optimal management of NTM lymphadenitis is not entirely clear, although surgical intervention is likely a definitive therapy. Disseminated NTM disease is uncommon and only seen in the setting of immunocompromise. In previously well children, this presentation should always lead to consideration of an underlying immune defect, such as Mendelian susceptibility to mycobacterial disease. Identification of the underlying cause enables more targeted therapy and better prognostic understanding. Pulmonary NTM disease is fundamentally different to the other clinical syndromes, presenting in different hosts, who have different comorbidities, and follow a different clinical course.     

新生儿低血糖临床规范管理专家共识（2021）

新生儿低血糖高危因素众多,严重持续的低血糖会导致不可逆的神经系统损伤,给家庭及社会带来极大负担。早期规范的预防及临床管理可有效降低新生儿低血糖及低血糖所致脑损伤的发生率。然而,目前国内尚无统一的新生儿低血糖临床管理指南,不同医疗机构借鉴不同的国外指南对新生儿低血糖进行临床管理,差异性较大。为进一步规范新生儿低血糖临床管理,由中华医学会儿科学分会新生儿学组制定了该共识。该共识针对胎龄35周及以上新生儿低血糖的预防、监测和管理的相关临床问题提出了21条推荐意见。     

儿童弥漫性肺泡出血

弥漫性肺泡出血（DAH）是以咯血、贫血、肺部弥漫性浸润影为主要表现的临床综合征，急性期死亡率高，是危及生命的急重症。与成人相比较，儿童DHA的基础疾病谱有其自身特点。既往认为儿童DAH以特发性肺含铁血黄素沉着症为主，但随着儿童DAH病例报道的增多，其病因谱在不断扩大。不同病因导致的DAH治疗及预后不尽相同，该文从广义角度评述儿童DAH，重点讨论特发性肺含铁血黄素沉着症、系统性红斑狼疮、抗中性粒细胞胞浆抗体相关性血管炎、COPA综合征、IgA血管炎引起的DAH。     

BP神经网络在以血尿为主要表现患儿肾脏病理预测中的应用

目的探讨不同病理类型以血尿为主要表现的患儿各临床指标的差异,并建立基于临床资料的BP神经网络预测模型。方法收集2003年6月至2018年12月重庆医科大学附属儿童医院以血尿为主要表现并行肾活检患儿的临床资料及肾脏病理结果,进行各临床指标的差异性比较,并建立以血尿为主要表现患儿肾脏病理的BP神经网络预测模型。结果共纳入438例患儿。其中男232例,女206例;起病年龄(7.00±3.15)岁。按照不同临床表现分为:镜下血尿组(179例)、肉眼血尿组(81例)、镜下血尿并蛋白尿组(44例)、肉眼血尿并蛋白尿组(134例)。差异性检验结果显示,各组性别、起病年龄、病程、诱因、尿爱迪(Addis)计数中红细胞数、24 h尿蛋白定量、血清素氮、血肌酐、血清蛋白、血IgA水平差异均有统计学意义(均P<0.05);不同病理类型性别、起病年龄、病程、家族史、尿Addis计数中红细胞数、24 h尿蛋白定量、血尿素氮、血肌酐、血清蛋白、血IgA、C3水平差异均有统计学意义(均P<0.05)。基于以上指标,构建BP神经网络预测模型,并通过留一法验证了该预测模型的准确率为61.19%。结论通过进行不同临床表现和病理分型下各指标的差异性比较,建立以血尿为主要表现患儿的肾脏病理的BP神经网络预测模型。通过相关指标能较为准确预测肾脏病理,为肾活检时机提供依据。     

Clinical course of congenital toxoplasmosis in dicygotic twins (author's transl)

The presented case report deals with the clinical course of a congenital toxoplasmosis in dicygotic twins. The variability of the clinical course was proofed, because one of the twins remained unaffected with clinical signs and was detected only by the conversion of the seroreactions. On the other hand the second twin showed the picture of an acute meningoencephalitis resulting in a neurological defect syndrome. The reasons for the different clinical course, which is more pronounced in dicygotic twins than monocygotic, remain unknown.     

血管迷走性晕厥患儿40例

目的探讨不同类型血管迷走性晕厥(VVS)患儿的临床特征及实验室检查指标间的差异。方法经常规病史询问、体格检查、卧立位血压、辅助检查、直立倾斜试验(HUT)确诊的VVS患儿40例,比较不同类型患儿的临床特征及实验室指标间的差异。结果VVS患儿的血流动力学类型以血管抑制性为主。不同类型VVS患儿的临床特征,包括晕厥的诱因、先兆、发作频率、持续时间、基础心率、血压及血清电解质水平等均无显著差异。结论血管抑制型反应是血管迷走性晕厥患儿的主要血流动力学类型。     

Qualitative evaluation of Tuberculin test responses in childhood Tuberculosis

Objective To study if different forms of clinical presentation of tuberculosis in children are associated with a different type of tuberculin reaction. Methods This cross sectional study, describing Tuberculin skin testing (TST) responses in 268 children (134 cases and 134 controls) less than 12 yr of age was carried out over a period of 18 months at JIPMER, a tertiary care referral hospital in Pondicherry, India. The qualitative and quantitative TST responses in various clinical forms of Tuberculosis were analysed. Results Koch’s and Listeria variants were more common in children with TB Lymphadenitis and Pulmonary TB respectively. 10% of the study children with TB meningitis were tuberculin negative. Conclusion Qualitative TST responses are non-homogeneous among the various clinical types of childhood tuberculosis. They are not a correlate of protective immunity with little or no prognostic significance.     

Clinical applications of infant lung function testing: does it contribute to clinical decision making?

Infant lung function testing is important in clinical research and recent standardisation efforts have enabled measurements to be made in infants in different laboratories throughout the world. Thus, the theoretical conditions are now fulfilled for use of these techniques in clinical practice. This review discusses the usefulness of various infant lung function techniques in a clinical setting and their potential present or future clinical application. It will focus on the role of infant lung function in the clinical management of infants with respiratory disease.     

孤独症谱系障碍的多学科合作研究与干预

孤独症谱系障碍（autism spectrum disorder,ASD）是一组临床异质性高的神经发育障碍性疾病,常伴有共患病,其病因尚不明确,终身致残率高,可致儿童、青少年和成人在社交、认知和语言发展以及适应性功能等多个方面的障碍;在研究和干预中多学科（multidisciplinary）合作是新趋势,以从不同层面探究病因机制和临床转化;并提倡集合不同专业背景的人员对ASD患者及其家庭进行帮助,对临床诊断、教育、健康和社会关怀等方面的决策制定提供支持。     

The hierarchical factor model of ADHD: invariant across age and national groupings?

Objective: To examine the factor structure of attention‐deficit/hyperactivity disorder (ADHD) in a clinical sample of 1,373 children and adolescents with ADHD and their 1,772 unselected siblings recruited from different countries across a large age range. Hierarchical and correlated factor analytic models were compared separately in the ADHD and sibling samples, across three different instruments and across parent and teacher informants. Specific consideration was given to factorial invariance analyses across different ages and different countries in the ADHD sample. Method: A sample of children and adolescents between 5 and 17 years of age with ADHD and their unselected siblings was assessed. Participants were recruited from seven European countries and Israel. ADHD symptom data came from a clinical interview with parents Parental Account of Childhood Symptoms and questionnaires from parents and teachers (Conners Parent and Teacher). Results: A hierarchical general factor model with two specific factors best represented the structure of ADHD in both the ADHD and unselected sibling groups, and across informants and instruments. The model was robust and invariant with regard to age differences in the ADHD sample. The model was not strongly invariant across different national groups in the ADHD sample, likely reflecting severity differences across the different centers and not any substantial difference in the clinical presentation of ADHD. Conclusions: The results replicate previous studies of a model with a unitary ADHD component and separable specific traits of inattention and hyperactivity/impulsivity. The unique contribution of this study was finding support for this model across a large developmental and multinational/multicultural sample and its invariance across ages.     

常见儿童呼吸道病毒感染性疾病的临床特征

儿童急性呼吸道感染是临床的常见病， 是导致儿童死亡的一个重要原因， 病毒感染在其中占有重要地位。绝大多数病毒感染无特异性临床特征， 但也有部分病毒感染临床表现特征性较强。熟悉不同病毒感染的临床特征对于临床早期及时的明确病原以及合理用药有着深远的意义。     

提高对单基因遗传自身炎症性疾病的认识

1999年始提出了自身炎症性疾病（AIDs）的概念,其主要为基因异常导致的单基因疾病,符合孟德尔遗传规律;到目前为止,已有20多种单基因AIDs被认识。其临床主要表现包括发热、皮疹、浆膜炎、关节炎、脑膜炎和葡萄膜炎,也常伴有淋巴结肿大和脾肿大;几乎所有患儿均存在炎症标记物增加,如白细胞、血小板、C反应蛋白（CRP）、红细胞沉降率（ESR）。当患儿出现上述临床表现,无法用另一种原因解释时（如感染或恶性肿瘤）,应怀疑AIDs的可能,应尽可能进行基因检测以明确诊断。值得注意的是,同一种基因突变可以引起不同临床表型;另一方面,同一种临床表型可以由多个不同的基因突变所致。对基因检测结果的解读要基于一定遗传学知识基础,密切结合临床表型,特别是对于一些在人群中发生率很高的变异更要细心分析。     

Detection of bacterial DNA by PCR and reverse hybridization in the 16S rRNA gene with particular reference to neonatal septicemia

AIM: The clinical diagnosis of sepsis is difficult, particularly in neonates. It is necessary to develop a rapid and reliable method for detecting bacteria in blood and cerebrospinal fluid (CSF). Polymerase chain reaction (PCR) and reverse hybridization of the 16S rRNA gene would permit fast and sensitive determination of the presence of bacteria and differentiate gram-positive bacteria from gram-negative ones in clinical specimens. METHODS: We developed a pair of primers according to the gene encoding 16SrRNA found in all bacteria. DNA fragments from different bacterial species and from clinical samples were detected with PCR, and with reverse hybridization using a universal bacterial probe, a gram-positive probe and a gram-negative probe. RESULTS: A 371 bp DNA fragment was amplified from 20 different bacterial species. No signal was observed when human DNA and viruses were used as templates. The sensitivity could be improved to 10(-12) g. All 26 culture-positive clinical samples (22 blood samples and 4 CSF samples) were positive with PCR. The gram-negative and gram-positive probes hybridized to clinical samples and to known bacterial controls, as predicted by Gram's stain characteristics. CONCLUSIONS: Our results suggest that the method of PCR and reverse hybridization is rapid, sensitive and specific in detecting bacterial infections. This finding may be significant in the clinical diagnosis of sepsis in neonates.     

Neonatal lupus: different clinical neonatal expression in siblings]

Neonatal Lupus Syndrome is a rare disease caused by placental passage of maternal autoantibodies. Pathogenesis is partially unknown and many clinical manifestations are possible. We report on newborn siblings who presented with different symptoms of Neonatal Lupus Syndrome. One patient presented with congenital heart block and another with hepatic and haematologic involvement. Cases of Neonatal Lupus among siblings are very rare, because of the high risk of pregnancy in affected women. Various clinical expressions may be explained by a different specificity of Anti-Ro autoantibodies among siblings. The reported cases are commented with regard to recent literature, trying to explain their pathogenesis.     

Hereditary fructose intolerance

The paper gives an overview of current diagnostic procedures in patients with clinical suspicion of hereditary fructose intolerance. On the basis of the literature and of a 9 years' experience at the Department of Paediatrics of the University of Graz a different approach according to the clinical condition of the patients is proposed (good clinical condition, severe liver disease, or bad clinical condition--i.e. liver biopsy is ethically not justified). The aim of this approach is to minimize invasive procedures for the children.     

Prediction of Prognosis in Patients with Hemolytic-Uremic Syndrome

Hemolytic uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia and acute renal insufficiency. Recently we experienced 6 HUS patients who had different clinical modes of onset, different clinical courses and a poor prognosis compared with the patients with the above typical clinical pictures. Thirteen HUS patients were evaluated in two aspects: mode of onset (acute or gradual type) and clinical corn (non-recurrent or recurrent type). During 4.9 ± 3.1 (mean ± sd) years' of observation, renal insufficiency was more frequently observed in the gradual onset and recurrent course types respectively than in the acute onset and recurrent types (p < 0.05, p < 0.01). Also, the mean age was significantly lower and platelet counts were much higher in the gradual onset type than in the acute onset type (p < 0.05, p < 0.01). However, clinical findings except renal failure revealed no differences between non-recurrent and recurrent HUS. For the prediction of HUS, we emphasize the importance of classifying HUS by the mode of onset (acute or gradual) and/or clinical course (non-recurrent or recurrent).     

儿童囊性纤维化并发变应性支气管肺曲霉菌病1例报告并文献复习

目的 分析囊性纤维化(CF)并发变应性支气管肺曲霉菌病(ABPA)的临床特征.方法 回顾分析1例确诊为CF并发ABPA患儿的临床资料,分析近10年PubMed、中国知网、万方数据库中报道CF并发ABPA的资料.结果 11岁患儿,男,曾诊断哮喘,因持续咳嗽、喘息入院,初步确诊ABPA.基因检测显示患儿CFTR基因变异,汗...     

Noninvasive methods for estimating in vivo oxygenation.

Clinical signs of hypoxia and hyperoxia are nonspecific and unreliable, yet both are potentially injurious. Noninvasive methods of oxygen assessment fill the gap between clinical observation and invasive tests, helping physicians deliver sufficient oxygen with minimum toxicity. Potential sites for oxygen measurement vary between the blood and the mitochondria; each method measures at a different site and detects different types of hypoxia and hyperoxia. Thus, values obtained by two different methods are not equivalent, giving each method unique strengths and weaknesses. We review two clinical methods (pulse oximetry and transcutaneous oximetry), as well as four experimental methods (near-infrared spectrophotometry, magnetic resonance spectroscopy, magnetic resonance saturation imaging, and time-of-flight absorbance spectrophotometry). The principles of each method and the clinical situations in which each succeeds or fails are discussed. A fundamental understanding of each method can help in deciding which methods, if any, are appropriate for a given patient and how best to correct observed oxygenation problems once they are discovered.     

Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity

In this report three female patients with Melnick-Needles syndrome are described. This skeletal dysplasia is characterized by a peculiar craniofacial dysmorphism and hoarseness of the voice, which allow early clinical suspicion. The variability in clinical and radiological findings and the differences in prognosis indicate that this syndrome probably covers at the present time a heterogeneous group of different conditions.