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关键词： Desmoid tumour   beta-catenin   CTNNB1   Gardner syndrome   Medical therapy   Radiotherapy   Surgery   Patient advocacy groups   SPAEN  

摘要： Desmoid tumor (DT;other synonymously used terms: Desmoid-type fibromatosis, aggressive fibromatosis) is a rare and locally aggressive monoclonal, fibroblastic proliferation characterised by a variable and often unpredictable clinical course. Previously surgery was the standard primary treatment modality;however, in recent years a paradigm shift towards a more conservative management has been introduced and an effort to harmonise the strategy amongst clinicians has been made. We present herein an evidence-based, joint global consensus guideline approach to the management of this disease focussing on: molecular genetics, indications for an active treatment, and available systemic therapeutic options. This paper follows a one-day consensus meeting held in Milan, Italy, in June 2018 under the auspices of the European Reference Network for rare solid adult cancers, EURACAN, the EuropeanOrganisation for Research and Treatment of Cancer (EORTC) Soft Tissue and Bone Sarcoma Group (STBSG) as well as Sarcoma Patients EuroNet (SPAEN) and The Desmoid tumour Research Foundation (DTRF). The meeting brought together over 50 adult and pediatric sarcoma experts from different disciplines, patients and patient advocates from Europe, North America and Japan. (C) 2019 The Authors. Published by Elsevier Ltd.

摘要： Paediatric palliative care (PPC) is an emerging specialty that aims at improving the quality of life for patients and their families. PPC is complex, and fundamentally different from adult palliative care in that it involves rare conditions, high-tech care, children in diverse developmental stages and complex proxy decision-making. [Extracted from the article]

关键词： Nonunion   Paediatric femur   Infection   External fixator   Ilizarov  

摘要： Purpose Nonunion of femur fractures is a devastating disabling complication which is rare in children. The purpose of this study was to report the outcomes of treating infected femur nonunions in children by the Ilizarov fixator in one stage. Patients and methods The study included 13 patients with unilateral infected nonunion of the femur with an average age of 9.1 years. The nonunion duration averaged 10.69 months. Ten cases were draining nonunions, and three patients had quiescent sinuses. Associated problems include shortening in all cases (mean 3.5 cm), joint stiffness (9 cases), and angular deformity (7 cases). The quiescent cases were treated by bloodless monofocal compression-distraction. Four draining cases were treated by debridement and compression with relengthening through nonunion site. The remaining six cases were treated by bifocal technique. Results The mean follow-up duration was 60.15 months. External fixation period averaged 5.3 months. Successful union was achieved in all patients. Recurrences of infection occurred in two cases including one with refracture and another one with late pathological fracture. Other complications included pin tract infections, one delayed union, two residual angular deformities, and 6 cm residual shortening in one patient. ASAMI bone results were excellent (8 patients), good (3 patients), fair (one patient), and poor (one patient). The functional results were excellent (9 cases), good (3cases), and fair (one case). Conclusions The Ilizarov method provided a viable treatment option for treating paediatric infected femur nonunions in single stage of management with infection control in most cases and satisfactory outcomes.

关键词： brain tumour   cancer predisposition   constitutional mismatch repair   familial adenomatous polyposis   genetic syndrome   Gorlin syndrome   Li-Fraumeni syndrome   neoplasia   neurofibromatosis   rhabdoid tumours   tuberous sclerosis complex  

摘要： Cancer in childhood is a disorder of growth and development. Up to 10% of patients diagnosed with cancer during childhood have a known underlying genetic predisposition syndrome. Affected individuals usually have multisystem involvement from the underlying syndrome and certain syndromes are associated with development of characteristic tumours with sites of predilection within the neuraxis. For the healthcare professionals involved with paediatric patients it is important to have basic knowledge of the cancer susceptibility syndromes. A holistic multidisciplinary approach is required for the overall management of the syndrome itself with specific recommendations for imaging surveillance and genetic counselling based on the pattern of inheritance and the relative risk of developing a tumour. Appropriate knowledge of these syndromes will help paediatricians manage and refer patients at risk to specialist neuro-oncology centres. A typical brain tumour diagnosis can also indicate certain underlying genetic disorders and examples of such tumours include optic pathway glioma, choroid plexus carcinoma and subependymal giant cell astrocytoma. A detailed family history can be helpful in identifying at risk patients and families as the typical clinical signs associated with the genetic condition are often not fully apparent in young children. This article focuses on well-known genetic diagnoses associated with or predisposing to childhood brain tumours. In some instances, the brain tumour diagnosis subsequently leads to the diagnosis of an underlying genetic syndrome. © 2019 Elsevier Ltd

关键词： child health   critical Illness   early warning scores   patient safety   pre-hospital   resource limited  

摘要： In our previous study, a Paediatric Early Warning Score could be calculated for only one-fifth of 102,993 children transported by ambulance to hospital, as components other than supplemental oxygen were not reliably measured: respiratory rate 90,358 (88%);Glasgow Coma Score 83,648 (81%);heart rate 83,330 (81%);time to capillary reperfusion 81,685 (79%);oxygen saturation 71,372 (69%);temperature 60,402 (59%);systolic blood pressure 37,088 (36%). We tested 12 abbreviated scores with 3-5 components. The discrimination of these 12 scores for the primary outcome (30-day mortality or admission to paediatric intensive care), as measured by the area under the receiving operator characteristic curve, ranged from 0.69 to 0.80. Scores could be calculated for at most 74,508 (72%) children when heart rate, conscious level and respiratory rate were measured, with or without supplemental oxygen: the discrimination of these two versions was 0.75 and 0.77, respectively. Optimal threshold scores of 3 and 2 for these two abbreviated versions discriminated an outcome rate of 2-3% in about one third of children from the other children who had < 1% rate of outcome.

关键词： Fusobacterium necrophorum   mastoiditis   otitis media   otitis media with effusion   otology   skull base surgery  

摘要： Objective To evaluate in children the clinical severity and evolution of otogenic lateral sinus thrombosis (OLST) due to Fusobacterium necrophorum compared with other bacterial otogenic thrombosis and propose a specific management flowchart for Fusobacterium OLST. Design A retrospective multicentre cohort study. Settings Four French ENT paediatric departments. Participants A total of 260 under 18 years old admitted for acute mastoiditis were included. Initial imaging was reviewed to focus on complicated mastoiditis and 52 OLST were identified. Children were then divided into two groups according to bacteriological results: 28 in the "OLST Fusobacterium group" and 24 in the "OLST other bacteria group". Results There was a significant association between F necrophorum and OLST (P < .001). When compared to the OLST other bacteria group, children in the OLST Fusobacterium group were significantly younger (61 months vs 23 months, P < .01) and had a more severe clinical presentation: higher CRP (113 mg/L vs 175.7 mg/L, P = .02) and larger subperiosteal abscess (14 mm vs 21 mm, P < .01). Medical management was also more intensive in the OLST Fusobacterium group than in the OLST other bacteria group: increased number of conservative surgeries (66.7% vs 92.9%, P = .03) and longer hospital stay (13.7 days vs 19.8 days, P = .02). At the end of follow-up, the clinical course was good in both groups without any neurological sequelae. Conclusions Thrombotic complications are very frequent in case of Fusobacterium mastoiditis and clinicians should be aware of the initial severity of the clinical presentation. Under appropriate management, the clinical course of Fusobacterium OLST is as good as that of other bacterial otogenic thrombosis.

关键词： acute myeloid leukaemia   TP53   RRM2B  

摘要： Limited data are available on the incidence and impact of TP53 alterations and TP53 pathway deregulation in paediatric acute myeloid leukaemia (AML). We analysed TP53 alterations in bone marrow samples of 229 patients with de novo paediatric AML, and detected heterozygous missense exon mutations in two patients (1%) and 17p deletions of the TP53 gene in four patients (2%). These patients more frequently had complex karyotype (50% vs. 4%, P = 0 center dot 002) or adverse cytogenetic abnormalities, including complex karyotype (67% vs. 17%, P = 0 center dot 013), compared to TP53 wild-type. Differential expression of TP53 pathway genes was associated with poor survival, indicating a role for TP53 regulators and effector genes.

关键词： Paediatrics   Risk factors  

摘要： Introduction Paediatric endophthalmitis is a severe but rare complication of intraocular surgery, penetrating trauma and far less commonly extra-ocular surgery or endogenous origin. We set out to establish the incidence and risk factors of exogenous endophthalmitis in children, and to develop an evidence-based protocol that can be used for treatment of suspected exogenous endophthalmitis in children. Methods Microbiology reports and operation numbers were obtained from two large tertiary referral hospitals sharing 24-h paediatric ophthalmology cover for the period January 2009-December 2016. All cases of aqueous and/or vitreous tap performed on children aged <= 18 years were identified and case notes reviewed for complete information on each case. Results Sixteen cases were eligible for inclusion as 'postoperative endophthalmitis': complete data was found on 13 cases. The incidence of postoperative endophthalmitis was 0.17% over 7 years. The mean age of presentation was 5.5 years (range from 7 months to 16 years and 9 months), from 3 days-78 months post operatively. In all, 11/13 had at least one glaucoma procedure. Microbiology results showed growth in 8/13. Most isolates were Gram-positive bacteria but Gram-negatives were also isolated and in one case Candida from a conjunctival swab. The antibiotic regime varied depending on age, organism identified and sensitivities. In all, 9/13 had hand movement or worse vision after treatment. Conclusion Paediatric endophthalmitis may present to any paediatric/general ophthalmologist. It is a rare but devastating condition with poor visual prognosis, requiring prompt recognition and aggressive management. Previous glaucoma surgery is a long-term risk factor in our local paediatric population. Based on our study, an evidence-based protocol for management is proposed in order to improve outcomes.