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关键词： Metabolic disease   Restrictive   Obstructive   Pulmonary hypertension  

摘要： Inborn errors of metabolism (IEMs) whilst individually rare, as a group constitute a field which is increasingly demands on pulmonologists. With the advent of new therapies such as enzyme replacement and gene therapy, early diagnosis and treatment of these conditions can impact on long term outcome, making their timely recognition and appropriate investigation increasingly important. Conversely, with improved treatment, survival of these patients is increasing, with the emergence of previously unknown respiratory phenotypes. It is thus important that pulmonologists are aware of and appropriately monitor and manage these complications. This review aims to highlight the respiratory manifestations which can occur. It is divided into conditions resulting primarily in obstructive airway and lung disease, restrictive lung disease such as interstitial lung disease or pulmonary alveolar proteinosis and pulmonary hypertension, whilst acknowledging that some diseases have the potential to cause all three. The review focuses on general phenotypes of IEMs, their known respiratory complications and the basic metabolic investigations which should be performed where an IEM is suspected. Crown Copyright (C) 2019 Published by Elsevier Ltd. All rights reserved.

关键词： Biotech medicines   medication errors   paediatric patients  

摘要： The paediatric population is more susceptible to medication errors due to factors such as weight, body surface, immaturity of the enzymatic system to metabolize and excrete drugs, and inability to communicate any sign or negative symptom related to a medication. Currently technological advances confront us with new situations or ethical conflicts, the twenty-first century is considered as the century of biotechnology, stem cells, cloning, gene therapy, new drugs, advances not yet adapted to paediatric clinical practice and valued as a relevant factor causing error. Based on case reports on the use and management of biotech medicines, scientific approach was made to understand in depth the problems faced by the medication system, which directly impacts the patients. The objective of the present work was to document, analyse and evaluate medication errors during the use and management of biotech medicines in the paediatric population treated in a highly specialized hospital from September 2017 to April 2018. Prospective, observational design whose main variable is the medication error including potential errors. The taxonomy of the National Coordinating Council for Medication Error Reporting and Prevention was used. The study was carried out for 24 weeks in the medical specialties of oncology, haematology and immunology, as well as in the respective outpatient areas. Three hundred and fifty follow-ups were selected in the use and management of biotech medicines, found 1085 medication errors. The prevalence of measurement errors is, insufficient monitoring of the medication with 35 %;wrong dose with 19 %, wrong frequency and time of administration, with 14.7 and 8.5 % respectively, for preparation, handling and conditioning is 6.3 % and wrong medication with 6.6 %. The data generated would allow the design and implementation of strategies to strengthen the use and safe management of biotech medicines.

关键词： cardiomyopathy   mobile technology   activity monitoring  

摘要： Chronic disease management may be improved with the integration of mobile technologies capable of real-world physiologic monitoring. We performed a prospective, single-centre, pilot study to assess the feasibility of a consumer-based activity monitor use in outpatient management of adolescent cardiomyopathy patients. During the 3-month study period, the activity monitor was worn consistently and provided detailed physiologic and activity data with no adverse events related to the device use. Survey data revealed that the majority of subjects approve of these technologies becoming integrated into routine clinical care. Ongoing study is in need to define optimal disease management for this complex patient population in the age of consumer-driven healthcare.

关键词： Nosocomial infection   Human bocavirus   Human rhinovirus   Infection control   Polymerase chain reaction   Respiratory risks  

摘要： Background: Nosocomial infections by respiratory viruses undetected by rapid tests are not often diagnosed. For paediatric patients with background diseases, nosocomial infection could be fatal. Aim: To determine the relationship between developing symptoms by respiratory viruses undetectable by rapid tests and respiratory risks and to improve the management of infection control. Methods: Two episodes of nosocomial infection by human bocavirus (HBoV) and human rhinovirus (HRV) were retrospectively investigated in a tertiary hospital paediatric ward in Japan. Viruses were identified by polymerase chain reaction to determine infection control management. When viruses of the same species were detected from different patients, the virus homology was investigated. The relationship between respiratory risks and developing symptoms was statistically investigated. Findings: Three and four patients with respiratory risks in the HBoV and HRV outbreaks, respectively, developed respiratory symptoms. The nucleotide sequences of two patients in the HBoV outbreak and all four patients in the HRV outbreak were phylogenetically close. In both outbreaks, the patients with respiratory risks developed significantly more symptoms than those without any risk (P = 0.035 and 0.018, respectively). After the patients with respiratory infection were separated from those with respiratory risks, no additional nosocomial infection occurred. Conclusion: Patients with respiratory risks easily develop respiratory symptoms and acquire severe symptoms of nosocomial infection by those viruses. In a paediatric ward, we should adopt not only standard precautions but also isolation management of the patients with respiratory symptoms, even if they have negative results in rapid tests. (C) 2019 The Healthcare Infection Society. Published by Elsevier Ltd. All rights reserved.

关键词： activities   child-parent agreement   participation   patient-reported outcome   questionnaire  

摘要： Introduction The Paediatric Haemophilia Activities List (pedHAL) assesses self-reported limitations in activities and participation in children with haemophilia. Aim To assess longitudinal changes, child-parent agreement and to identify which pedHAL domains yielded most information in boys with access to early prophylaxis. Methods The pedHAL (53 items, 7 domains, optimum 100) was completed annually at the Van Creveldkliniek by boys aged 4-18 years with moderate/severe haemophilia and their parents. Development of the pedHAL in relation to bleeds, changes per domain over 3-5 years, child-parent agreement (% difference child-parent <=|5|) per domain and domain scores (limitations defined as <= 95) were determined. Results Seventy-three patients and their parents (92% severe haemophilia, median age 13.1 years [range 5.4;18.0]) completed >= 1 pedHAL. Median (IQR) pedHAL sum score was 99.5 (95.2;100.0) for children and 99.6 (95.8;100.0) for parents. If patients scored >95 and had no joint and/or muscle bleed, 90.9% of the patients scored >95 at the next assessment. The median change in sum score was 0.0 for both the 3- and 5-year interval. Child-parent agreement varied between domains from 92% ('self-care') to 71% ('sitting/kneeling/standing'). Most limitations were reported in the domains 'sitting/kneeling/standing', 'functions of the legs' and 'leisure activities and sports.' Conclusion In routine clinical practice in Dutch children on prophylaxis, pedHAL scores were high and remained stable in 3-5 years at group level. In individual patients without joint and/or muscle bleeds, pedHAL scores remained high after 1 year. Child-parent agreement was not optimal which indicated that both child report and parent proxy should be reported.

关键词： Osteomyelitis   Paediatric   Polymerase chain reaction   Septic arthritis  

摘要： Background Culture yield in osteomyelitis and septic arthritis is low, emphasising the role for molecular techniques. Aims The purpose of this study was to review the laboratory investigation of childhood osteomyelitis and septic arthritis. Methods A retrospective review was undertaken in an acute tertiary referral paediatric hospital from January 2010 to December 2016. Cases were only included if they had a positive culture or bacterial PCR result from a bone/joint specimen or blood culture, or had radiographic evidence of osteomyelitis. Results Seventy-eight patients met the case definition;52 (66%) were male. The median age was 4.8 years. Blood cultures were positive in 16 of 56 cases (29%), with 11 deemed clinically significant (Staphylococcus aureus = 8, group A Streptococcus = 3). Thirty-seven of 78 (47%) bone/joint samples were positive by culture with S. aureus (n = 16), coagulase-negative Staphylococcus (n = 9) and group A Streptococcus (n = 4), being the most common organisms. Sixteen culture-negative samples were sent for bacterial PCR, and four were positive (Kingella kingae = 2, Streptococcus pneumoniae = 1, group A Streptococcus = 1). Conclusions Sequential culture and PCR testing can improve the detection rate of causative organisms in paediatric bone and joint infections, particularly for fastidious microorganisms such as K. kingae. PCR testing can be reserved for cases where culture is negative after 48 h. These results have been used to develop a standardised diagnostic test panel for bone and joint infections at our institution.

关键词： Paediatric multiple sclerosis   Juvenile multiple sclerosis   Cognition   Neuropsychology   Treatment   Disease-modifying drugs  

摘要： Background: Cognitive impairment (CI) is a critical feature for patients with childhood or juvenile multiple sclerosis (MS). Objective: To promote the understanding of CI and to address the impact of different pharmacological treatment strategies on cognitive performance in this patient group. Methods: A cohort of 19 patients with therapy-naive or beta-Interferon-treated juvenile MS completed a comprehensive neuropsychological assessment at initial presentation (baseline) and on average 2.5 years later (follow-up). The assessments were complemented with a neuropaediatric examination and conventional cerebral magnetic resonance imaging (MRI). Results: 9 patients (47%) were impaired in at least one test at baseline (z-score <-1.645 compared with age-adjusted normative data), with the highest impairment frequency in the domains processing speed and attention & executive functions. At follow-up a higher impairment frequency was prominent in those patients whose therapy had not been escalated (N = 13, 69% impaired in at least one test), while cognition was preserved or ameliorated in patients whose treatment had been escalated to highly effective drugs (N = 6, 0% impaired) during the observational period. These group differences at follow-up were not attributable to differences regarding demographics, MRI metrics or cognitive performance at baseline. Conclusion: Our findings confirm that paediatric MS is associated with considerable CI already in early disease stages. Early administration of highly effective treatment may protect from cognitive decline or alleviate CI in juvenile MS, but larger controlled trials are warranted to confirm these preliminary results. (C) 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

关键词： Lumbosacral lipoma   Magnetic resonance imaging   Spinal dysraphism   Paediatric neurosurgery  

摘要： Purpose Lumbosacral lipoma (LSL) is a severe occult spinal dysraphism, frequently associated with neurological, urological and orthopaedic complications. Whole spine imaging is typically performed to identify concomitant, but spatially separate, congenital anomalies. Our hypothesis: the incidence of additional, clinically significant abnormalities of the neuraxis is low;thus, imaging should be optimised at the lumbosacral region. We aim to assess the prevalence and relevance of LSL-associated lesions. Method A single-centre, retrospective, radiological review using a prospectively maintained operative database. Inclusion criteria: children (< 16 years) with confirmed diagnosis of LSL and received whole spine MRI. Fatty filum, syndromic cases and cutaneous stigmata above lesion level were excluded. Data was extracted from radiological imaging, reports and clinical correspondence. Results One hundred twelve patients (40:72, M:F) aged 0.5 years (0.2-2.7) (median +/- IQR) with LSL had whole spine MRI between 2001 and 2017. Classification of LSL: transitional 48 (43%);dorsal 30 (27%);caudal 28 (25%) and chaotic 6 (5%). Additional anomalies included syringohydromyelia 44 (39%), subcutaneous tract 19 (17%), abnormal vertebral segmentation 18 (16%), dermoid cyst 1 and 1 Chiari I deformity. There were no Chiari II malformations. No child required surgery for an associated lesion. Binary logistic regression revealed no factors associated with predicting secondary lesions. Conclusions In congenital LSL, additional anomalies of the neuraxis are typically loco-regional rather than pan-CNS and additional lesions are rarely clinically significant. The loco-regional distribution of anomalies suggests that only lumbosacral spinal imaging is required in the initial evaluation of LSL. Such a policy would lessen the anaesthetic/sedation time for children and reduce imaging cost per patient. MRI protocols could be refined to optimise imaging quality at the region of interest.

关键词： Cow's milk allergy   Diet   Children   Pregnancy  

摘要： Background: The key role of dietary factors in immunotolerance promotion and allergic diseases prevention has been emphasised. The aim of the study was the analysis of the impact of immunomodulatory dietary components, consumed by pregnant women, on the development of cow's milk allergy (CMA) in their offspring. Materials and methods: Fifty-one pairs of mothers and their CMA-offspring were included in the study group. The analysis of a daily intake of selected dietary components was conducted retrospectively with the application of a seven-day diet of a mother in the third trimester of gestation and the authors' own questionnaire. The Diet 5.D programme was used. Results: An average daily retinol intake by study-group mothers was significantly lower than by control-group mothers and valued 375.6 mu g/d vs. 543.7 mu g/d (p = 0.040), respectively. Folates intake in the study group was 598.8 mu g/d vs. 361.1 mu g/d in the control group (p = 0.001). Vitamin Din the study group was statistically lower - 3.6 mu g/d, comparing to the control group - 6.9 mu g/d (p = 0.038). Average LC-PUFA intake by mothers with allergic children was 0.09 g/d, while in the control group 0.18 g/d (p = 0.016). An analysis of the diet revealed that significantly more mothers of children from the control group (n = 12;48%) consumed fish 2-3 times per month in comparison to the study group (n = 9;17.6%) (p = 0.007). Conclusions: Vitamin D, A, LC-PUFA, retinal, riboflavin and fish consumption by pregnant mothers of CMA-children was significantly lower, whereas beta-carotene and folates consumption was significantly higher than that of mothers with non-allergic children. (C) 2019 Published by Elsevier Espana, S.L.U. on behalf of SEICAP.