60例新生儿惊厥临床分析

目的探讨早期新生儿惊厥的病因与治疗,有效控制惊厥的发作,以减少新生儿惊厥及后遗症的发生。方法临床分析我院5年来收治的60例新生儿惊厥的临床特点、实验室检查结果、治疗及转归情况。结果痊愈出院46例,好转后出院7例,放弃治疗4例,死亡3例。临床以缺氧缺血性脑病(HIE)和颅内出血(ICH)多见,发病时间多在生后3 d内,其次为低血糖和低钙血症,发病时间多在生后1周,而后天性感染发生新生儿惊厥的时间相对较晚。结论早期发生惊厥者主要与HIE、ICH有关,其次是低血糖和低钙血症。苯巴比妥仍是首选的抗惊厥药物。     

Transmettre à et pour des enfants en détresse. Observations à partir de films institutionnels autour de la Seconde Guerre mondiale

Questions of transmission have been addressed by psychiatrists through clinical film recordings since the pioneering work by René A. Spitz (1887–1974). These films screen child behavior in clinical situations exploring forms and structures of parent-child transmission. Departing from clinical teaching film addressed to professional audiences, the present contribution turns to films of universal distribution and in particular the film A child went forth by the American film director Joseph Losey (USA, 1940, 26 min), investigating transmission to and for children around WWII. An early expression of Losey's fascination with alternate perspectives of childhood and education, his documentary is sold to the US government and adapted to include security statements for families threatened by war. The film becomes a document of state information in a time where family structures could potentially be disrupted by mobilization or through non-return from war. The inquiry about the film invites a threefold level of analysis: first transmission to the children; second transmission between professionals; and third transmission to the general public referring to information and propaganda. In contrast to clinical teaching films recording children as patients, documentary film, as an object and as a vector addressed to a general public, opens another venue for observation and analysis of adult-child transmission from the widest possible perspective.     

基于“工作过程”导向和“课程中心”平台的小儿推拿案例式教学

分析小儿推拿的临床现状,提出基于＂工作过程＂导向的课程观,注重以工作任务为中心设计和组织教学内容,在学校教学网络＂课程中心＂平台的辅助下采用案例式教学法,有利于激发学生的学习动机,提高学生自主学习能力,加强临床思维和实践能力,并且在教学中能够充分发挥教师的专业知识和人文精神,对深化中医临床课程的改革具有一定的探索意义。     

Making a working clinical diagnosis of HIV infection in infants in Zimbabwe

Objectives Clinical algorithms can be helpful in decisions about treatment and feeding options in infancy, but have had limited exposure to real data. This analysis uses data from a large clinical trial to test such algorithms, and thereby develop a successor which performs usefully in poor countries with high HIV‐prevalence. Methods The ZVITAMBO trial followed 14 110 mother‐baby pairs through infancy. 32% of mothers were HIV‐positive. Infants were HIV tested regularly using DNA PCR. Clinical signs were evaluated in terms of identifying HIV‐infection at 6 weeks, 6 and 12 months, using Zimbabwean, South African, and WHO generic adaptations of the WHO integrated management of childhood illness HIV algorithm. A modification, in which HIV‐exposed infants are first divided into being at least or less than median weight‐for‐age, was derived and evaluated. Results At 6 weeks 65% of all infected babies are less than median weight‐for‐age. Adding at least two clinical signs reduces sensitivity to 20% but those identified are 1.5 (95% CI 1.1–2.1) times more likely to die by 6 months than other infected infants. At 6 months, 86% of uninfected babies of HIV‐infected mothers can be identified by selecting those whose weight is greater than median or, if less than median, who exhibit <2 clinical signs. Conclusions In poor settings a simple clinical algorithm can identify children with probable HIV infection, especially those at risk of early death, who can then be referred for further testing and care, including highly active antiretroviral therapy. Most infants who are HIV‐uninfected can be identified at 6 months and provided with support to maintain infection‐free survival, including focussed infant‐feeding counselling.     

秦艽清虚热的质疑与探析

质疑秦艽清虚热的功效。从秦艽功用沿革及历代医家对秦艽的认识,总结秦艽功效为主传尸骨蒸、除日晡潮热骨蒸、治小儿疳积骨蒸,而秦艽的除骨蒸作用不能等同于清虚热,秦艽并不具备治疗阴虚发热的特质,其在治疗阴虚发热方剂中的作用与其性用平和、辛散苦泄通利有关,而它本身并无直接的清退阴虚发热的功用。     

Parechovirus Genotype 3 Outbreak among Infants,New South Wales,Australia, 2013–2014

From October 2013 through February 2014, human parechovirus genotype 3 infection was identified in 183 infants in New South Wales, Australia. Of those infants, 57% were male and 95% required hospitalization. Common signs and symptoms were fever >38°C (86%), irritability (80%), tachycardia (68%), and rash (62%). Compared with affected infants in the Northern Hemisphere, infants in New South Wales were slightly older, both sexes were affected more equally, and rash occurred with considerably higher frequency. The New South Wales syndromic surveillance system, which uses near real-time emergency department and ambulance data, was useful for monitoring the outbreak. An alert distributed to clinicians reduced unnecessary hospitalization for patients with suspected sepsis.     

Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy,dysmorphic features,and hepatic dysfunction

AimMOGS mutations cause congenital disorders of glycosylation type IIb (CDG-IIb or GCS1-CDG). The specific manifestations caused by the mutations in this gene remain unknown. We aimed to describe the clinical features of CDG- IIb and the effectiveness of urinary oligosaccharide analysis in the diagnosis of CDG- IIb.MethodsPatient 1 was analyzed with whole-exome sequencing (WES) to identify the causative gene of intractable epilepsy and severe developmental delay. After detecting MOGS mutation in patient 1, we analyzed patients 2 and 3 who were siblings and had clinical features similar to those in patient 1. Urinary oligosaccharide analysis was performed to confirm CDG- IIb diagnosis in patient 1. The clinical features of these patients were analyzed and compared with those in eight published cases.ResultsOur three patients presented with early infantile epileptic encephalopathy, generalized hypotonia, hepatic dysfunction and dysmorphic features. In two cases, compound heterozygous mutations in MOGS were identified by WES. Isolation and characterization of the urinary oligosaccharide was performed in one of these cases to confirm the diagnosis of CDG-IIb. Although the isoelectric focusing of transferrin (IEF-T) of serum in this patient was normal, urinary excretion of Hex₄ corresponding to Glc₃Man was observed by mass spectrometry.ConclusionThis report provides clinical manifestations of CDG-IIb with MOGS mutation. CDG-IIb shows a normal IEF profile of serum transferrin and cannot be detected by structural analysis of the patient’s glycoproteins. Characterization of urinary oligosaccharides should be considered to detect this disorder.     

Surgery for drug‐resistant tuberous sclerosis complex‐associated epilepsy: who,when, and what

Objective: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder associated with refractory early‐onset epilepsy. Current evidence supports surgery as the intervention most likely to achieve long‐term seizure freedom, but no specific guidelines are available on TSC pre‐surgical workup. This critical review assesses which TSC patients are suitable for surgical treatment, when pre‐surgical evaluation should start, and what degree of surgical resection is optimal for postsurgical outcome. Methods: We searched for publications from 2000 to 2020 in Pubmed and Embase using the terms “tuberous sclerosis,” “epilepsy,” and “epilepsy surgery”. To evaluate postsurgical seizure outcome, we selected only studies with at least one year of follow‐up. Results: Overall, we collected data on 1,026 patients from 34 studies. Age at surgery ranged from one month to 54 years. Mean age at surgery was 8.41 years. Of the diagnostic non‐invasive pre‐surgical tools, MRI and video‐EEG were considered most appropriate. Promising data for epileptogenic tuber detection is provided from invasive SEEG studies. Data on surgery and related outcome were available for 769 patients. Seizure freedom was seen in 64.4% of patients who underwent tuberectomy, 68.9% treated with lobectomy and 65.1% with multilobar resection. The most effective surgical approach was lobectomy, even though more recently tuberectomy associated with the resection of the perituberal area seems to be the best approach to reach seizure freedom. Published postsurgical seizure freedom rates in patients with TSC were between 65% and 75%, but reduced to 48%‐57% over longer follow‐up periods. Early surgery might positively affect neurodevelopmental trajectory in some patients, even though data on cognitive outcome are still to be confirmed with longitudinal studies. Significance: Considering the strong correlation between epilepsy duration and neurocognitive outcome, all patients with TSC ought to be referred early to a dedicated epilepsy centre for individually tailored pre‐surgical evaluation by a multi‐disciplinary epilepsy surgery team.