Can service learning cultivate empowering experiences for students? Insight from empowerment pedagogy

Version of RecordPublishe

Promoting environmental sustainability through service learning and community capacity building

Version of RecordPublishe

HLA alleles associated with asparaginase hypersensitivity in Chinese children

Asparaginase is an important drug to treat childhood haematological malignancies. Data on the association between human leukocyte antigens (HLA) and asparaginase hypersensitivity among Chinese are lacking. We conducted a retrospective study to identify HLA alleles associated with asparaginase hypersensitivity among Chinese children with acute lymphoblastic leukaemia (ALL), mixed phenotype leukaemia and non-Hodgkin lymphoma (NHL), who received asparaginases with HLA typing performed between 2009 and 2019. 107 Chinese patients were analysed. 66.3% (71/107) developed hypersensitivity to at least one of the asparaginases. HLA-B*46:01 (OR 3.8, 95% CI 1.4-10.1, p < 0.01) and DRB1*09:01 (OR 4.3, 95% CI 1.6-11.4, p < 0.01) were significantly associated with L-asparaginase hypersensitivities, which remained significant after adjustment for age, gender and B cell ALL [HLA-B*46:01 (adjusted OR 3.5, 95% 1.3-10.5, p = 0.02) and DRB1*09:01 (OR 4.4, 95% CI 1.6-13.3, p < 0.01)]

Efficacy and cost-effectiveness of two online interventions for children and adolescents at risk for depression (E.motion trial): study protocol for a randomized controlled trial within the ProHEAD consortium

Background: Depression is a serious mental health problem and is common in children and adolescents. Online interventions are promising in overcoming the widespread undertreatment of depression and in improving the help-seeking behavior in children and adolescents. Methods: The multicentre, randomized controlled E.motion trial is part of the German ProHEAD consortium (Promoting Help-seeking using E-technology for ADolescents). The objective of the trial is to investigate the efficacy and cost-effectiveness of two online interventions to reduce depressive symptomatology in high-risk children and adolescents with subsyndromal symptoms of depression in comparison to an active control group. Participants will be randomized to one of three conditions: (1) Intervention 1, a clinician-guided self-management program (iFightDepression®); (2) Intervention 2, a clinician-guided group chat intervention; and (3) Control intervention, a psycho-educational website on depressive symptoms. Interventions last six weeks. In total, N = 363 children and adolescents aged ≥ 12 years with Patient Health Questionnaire-9 modified for Adolescents (PHQ-A) scores in the range of 5–9 will be recruited at five study sites across Germany. Online questionnaires will be administered before onset of the intervention, at the end of the intervention, and at the six-month follow-up. Further, children and adolescents will participate in the baseline screening and the one- and two-year school-based follow-up assessments integrated in the ProHEAD consortium. The primary endpoint is depression symptomatology at the end of intervention as measured by the PHQ-A score. Secondary outcomes include depression symptomatology at all follow-ups, help-seeking attitudes, and actual face-to-face help-seeking, adherence to and satisfaction with the interventions, depression stigma, and utilization and cost of interventions. Discussion: This study represents the first randomized controlled trial (RCT) investigating efficacy and cost-effectiveness of two online interventions in children and adolescents aged ≥ 12 years at risk for depression. It aims to provide a better understanding of the help-seeking behavior of children and adolescents, potential benefits of E-mental health interventions for this age group, and new insights into so far understudied aspects of E-mental health programs, such as potential negative effects of online interventions. This knowledge will be used to tailor and improve future help offers and programs for children and adolescents and ways of treatment allocation. Trial registration: German Register for Clinical Trials (DRKS), DRKS00014668. Registered on 4 May 2018. International trial registration took place through the “international clinical trials registry platform” with the secondary ID S-086/2018

Inverted duplication 18q12.1-q22

Poster Presentation (Doctor’s Session)Open Access JournalBACKGROUND: Partial duplications over the long arm of Chromosome 18 have been associated with congenital heart disease, multiple dysmorphism, seizure, growth retardation and developmental delay. Genotype-phenotype correlation, however, is still controversial, as is the association with the full Trisomy 18 phenotype. We report a Chinese infant with an inverted duplication involving a novel region within Chromosome 18q. CASE REPORT: The proposita was born to a nonconsanguineous healthy Chinese couple. Dysmorphism was noted and ventricular septal defect (VSD), secundum atrial septal defect (ASD), patent ductus arteriosus (PDA) as well as coarctation of aorta were detected. Karyotyping of the patient, followed by multicolour fluorescence in-situ hybridization and multicolour banding suggested an inverted duplication of 18q12.1 to q22 over the long arm of Chromosome 18. Array comparative genomic hybridization demonstrated a copy number gain between 18q12.1 and 18q22.1 (Genomic coordinates: Chr 18: 30273585-62939673) with an estimated size of 32.67- 32.74Mb. Maternal karyotype was normal, and that of the father was not available. DISCUSSION: The inverted duplication carried by our patient is to our knowledge, previously unreported. Features observed in the index patient were comparable to those described in patients with partial duplication involving and distal to 18q21. The absence of a classical Trisomy 18 phenotype in our patient also supported the hypothesis of proximal and distal critical regions in Edwards syndrome, with the proposed distal region lying within 18q22.3-qter

A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - Is cardiac assessment necessary for all patients with 17p13.3 microduplication?

While deletion of chromosome 17p13.3 (encompassing PAFAH1B1 and YWHAE genes) is known to result in Miller-Dieker syndrome (OMIM 247200), 17p13.3 microduplication gives rise to a condition commonly associated with developmental delay and autism spectrum disorder. We report a Chinese newborn presenting with dysmorphic features, microcephaly and valvar aortic stenosis, who was confirmed to have a 790 kb microduplication in chromosome 17p13.3 by array comparative genomic hybridization (aCGH). The patient passed away at 4 months of age with presumably life-threatening event associated with his cardiac condition. From literature review, congenital heart diseases of various kinds were identified in up to 20% of patients with 17p13.3 microduplication. We propose cardiac assessment should be part of the comprehensive evaluation of these patients. © 2012 Elsevier Masson SAS.link_to_subscribed_fulltex

The genetics of macrocephaly, autistic spectrum disorders and developmental delay in Chinese children

Poster PresentationsObjective: Macrocephaly is a common dysmorphic feature in children with autistic spectrum disorders and developmental problems. Previous studies showed that 14–34% of autistic children had head circumference >97 percentile. The aim of this study was to investigate the genetic causes of children with macrocephaly, autistic spectrum disorders and/ or global developmental delay. Method: Chinese children diagnosed with macrocephaly with head circumference >2 S.D. with either autistic spectrum disorders and/ or global developmental delay were recruited prospectively from 1st January 2010 to 31st December 2014. After obtaining informed consent, whole exome sequencing was done on the patients’ blood and buccal DNA. There were total of 18 patients and 27 family members. Coding exons in DNA samples from the patients and the family members were captured by Illumina Truseq Exome Enrichment Kit (64mb) and sequenced by Illumina Hiseq 2000 machine. The whole sequencing data analysis follows the best practice of GATK 3.2 (The Genome Analysis Toolkit, Broad Institute). Results: Out of the 18 patients with macrocephaly, autistic spectrum and/ or global developmental delay, 5 patients (27%) were identified to have genetic mutations (3 de novo mutations, 1 autosomal dominant and 1 was X-linked inherited). 4 out of the 5 mutations were linked to the PI3KAKT- mTOR pathway. Interestingly, one of these patients with biallelic PTEN mutations had the most severe clinical features of macrocephaly, global developmental delay and early death. Conclusion: Children with macrocephaly, autistic spectrum disorders and/ or global developmental delay should be offered genetic evaluations to rule out megalencephaly syndromes related to the PI3K-AKT-mTOR pathway. Early recognition will help to identify and treat complications such as increased cancer risks and early lethality

Treatment outcome of Paediatric Hepatoblastoma in Hong Kong

The meeting is organized by the comity of Pediatric Liver Tumors of the French Society of Childhood Cancer (SFCE) and the Institute CurieBackground and aims: The Hong Kong Paediatric Haematology and Oncology Study Group had formulated a consensus protocol (HB/HCC 1996) based on results published by the Children’s Oncology Group (COG) for treatment of paediatric hepatoblastoma (HB). We review the treatment outcome of HB in Hong Kong over the past 2 decades and investigate the role of PRETEXT staging and risk stratification. Methods: Review of population-based paediatric oncology database for patients (100ng/ml) in 58 (97%) patients. Epithelial type was the commonest subtype occurring in 39 (65%) patients. Five (8%) had lung metastases at presentation. Treatment details were not available in 3 patients and 1 patient died of tumor rupture before treatment. Twenty-nine patients (48%) received treatment with first-line chemotherapy; 23 (38%) required alternative agents. Three patients did not require chemotherapy after surgery; 1 died of liver failure post-operatively before initiation of adjuvant treatment. Surgical resection could be performed in 48 (80%) patients whilst 8 patients had unresectable (+/- metastatic) disease among which 3 (5%) underwent upfront liver transplantation. There were 14 deaths (disease relapse in 6; disease progression in 5 and tumor rupture in 3) and 11 relapses (native liver in 6; transplanted liver in 1; lung in 3 and bone in 1). The 5-year OS and EFS rates were 77.6% (±5.5%) and 69.2% (± 6.1%), respectively. Predictors of inferior outcome included advanced COG staging, unresectable or bilobar disease, tumour rupture, low AFP and suboptimal response to first-line chemotherapy. Long term sequalae included hearing loss (Grade 3 in 4) and renal tubular dysfunction (Grade 2 in 2). Radiological review for PRETEXT staging could be performed in 29 of 60 subjects yielding PRETEXT I in 3, II in 8, III in 14 and IV in 4. Eighteen patients belonged to standard risk (SR) and 11 to high risk (HR) according to the SIOPEL risk criteria. 5y OS and EFS rates were significantly better in the SR patients than the HR patients (89.9%±6.8% vs 42.2%±15.6% [p=0.017]; 84.7%±8.2% vs 13.6%±11.7% [p<0.001], respectively). Conclusions: Although treatment with the HB/HCC 1996 protocol resulted in cure of about three-quarters of HB patients, it is clear that we need to identify high risk patients upfront by a robust risk stratification system and improve their treatment outcome by intensifying chemotherapy regimen and consolidating surgical treatment plan (including selection criteria for total hepatectomy and liver transplantation)

Brain microstructural changes associated with neurocognitive outcome in intracranial germ cell tumor survivors

202111 bchyVersion of RecordPublishe