Dataset Information

Clinical, epidemiological, and therapeutic profile of patients with a retinoblastoma diagnosis experience in the Costa Rica National Children's Hospital Oncology Unit from January 2009 to December 2015.

ABSTRACT: Retinoblastoma represents only 3% of paediatric cancers, but it is the most prevalent intraocular tumour in this population. It develops in the retina as a primitive neuroectodermal tumour that affects development during gestation. The tumour presents in two different forms depending on whether or not it expresses a genetic modification. For patients diagnosed at preschool age, 75% are unilateral non-hereditary cases. While enucleation is the preferred treatment for advanced stages of the tumour, other modalities, such as systemic and intraocular chemotherapy, radiotherapy and local treatments with thermotherapy, cryotherapy, and brachytherapy can be used to try to preserve the eye. However, applying radiation therapy treatments increases the risk of secondary tumours.To analyse the results obtained from patients with a retinoblastoma diagnosis at the Costa Rica National Children's Hospital (HNN) Oncology Unit who received external beam radiation therapy and other therapeutic modalities during the period from January 2009 to December 2015.Data were extracted from the patient's medical records and entered in a data collection instrument. We then analysed the results and formulated conclusions.A total of 36 patients were evaluated. This corresponded to 45 cases or the number of eyes affected by bilateral presentation of retinoblastoma. The documented incidence was 0.83 cases per 10,000 live births and the majority were female preschool-age children. Of these, 40% presented bilaterally and 13% were of hereditary origin. Up to 78% of these cases were diagnosed with advanced stage D and stage E. All patients who received conservative treatment progressed, requiring up to four lines of treatment. Eight patients, all in the most advanced stage, received external beam radiation due to the failure of other modalities. The main adverse effects observed were radiodermatitis, facial hypoplasia and conjunctivitis. Additionally, we report the emergence of a secondary neoplasm in two patients, one post-chemotherapy and the other post-radiotherapy.Advanced-stage patients who initially received conservative treatments responded more poorly than those treated more aggressively with surgery alone or with surgery combined with another treatment modality. Treatment with radiation therapy was used in 22% of the cases (8 patients) and all patients treated with radiotherapy showed some adverse effects.

SUBMITTER: Lo JC

PROVIDER: S-EPMC5533600 | biostudies-other | 2017

REPOSITORIES: biostudies-other

ACCESS DATA

Similar Datasets

Project description:Epidemiological surveillance systems for pathogens in wild species have been proposed as a preventive measure for epidemic events. These systems can minimize the detrimental effects of an outbreak, but most importantly, passive surveillance systems are the best adapted to countries with limited resources. Therefore, this research aimed to evaluate the technical and infrastructural feasibility of establishing this type of scheme in Costa Rica by implementing a pilot program targeting the detection of pathogens of zoonotic and conservation importance in wildlife. Between 2018 and 2020, 85 carcasses of free-ranging vertebrates were admitted for post-mortem and microbiology analysis. However, we encountered obstacles mainly related to the initial identification of cases and limited local logistics capacity. Nevertheless, this epidemiological surveillance scheme allowed us to estimate the general state of health of the country's wildlife by establishing the causes of death according to pathological findings. For instance, 60% (51/85) of the deaths were not directly associated with an infectious agent. Though in 37.6% (32/85) of these cases an infectious agent associated or not with disease was detected. In 27.1% (23/85) of the cases, death was directly related to infectious agents. Furthermore, 12.9% (11/85), the cause of death was not determined. Likewise, this wildlife health monitoring program allowed the detection of relevant pathogens such as Canine Distemper Virus, Klebsiella pneumoniae, Angiostrongylus spp., Baylisascaris spp., among others. Our research demonstrated that this passive surveillance scheme is cost-effective and feasible in countries with limited resources. This passive surveillance can be adapted to the infrastructure dedicated to monitoring diseases in productive animals according to the scope and objectives of monitoring wildlife specific to each region. The information generated from the experience of the initial establishment of a WHMP is critical to meeting the challenges involved in developing this type of scheme in regions with limited resources and established as hotspots for emerging infectious diseases.

Project description:Rationale: MicroRNAs have emerged as crucial post-transcriptional and network regulators in inflammatory diseases, including asthma. We hypothesized that peripheral blood miRNA would be associated with airflow obstruction in children with asthma, and that some of these effects would also be observable in adults with COPD. Methods: We analyzed small RNA-Seq data from 365 peripheral blood samples from the Genetics of Asthma in Costa Rica Study (GACRS). GACRS comprised children from the Central Valley of Costa Rica age 6-14 years with physician-diagnosed asthma and ≥2 respiratory symptoms or asthma attacks in the prior year. FEV1/FVC percent-predicted was dichotomized at 100%, splitting the cohort into those with and without evidence of airflow obstruction and used as our primary outcome. Differentially expressed (DE) miRs were identified using the DESeq2 package in R with a 10% FDR and adjustment for age, gender, and inhaled corticosteroid (ICS) use. We attempted to replicate the top airflow obstruction-associated microRNAs from the GACRS study in the COPDGene study, in which blood microRNA data were available in 439 current and former smoking adults with and without airflow obstruction (defined as raw FEV1/FVC < 0.7). Results: After QC, we had 361 samples and 649 miRs for DE analysis. Of the 361 samples, 220 and 141 were from subjects without and with airflow obstruction, respectively. We found 1 upregulated (let-7e-5p p=0.0004) and 2 downregulated (miR-342-3p p=0.0002; miR-671-5p p=0.0001) miRs in subjects with airflow obstruction compared to those without airflow obstruction. These three miRNAs were then tested for association with airflow obstruction in the COPDGene study, in which let-7e-5p was upregulated (p = 0.064) and miR-342-3p (p =0.085) was downregulated in participants with FEV1/FVC < 0.7 (n=196) compared to those with FEV1/FVC > 0.7 (n=243). Differentially expressed miR’s target genes were enriched for PI3K-Akt, Hippo, WNT, MAPK, and focal adhesion signaling pathways. We also separately considered the targets of only the two miRNAs that were also associated with FEV1/FVC in the adult current and former smokers, where PI3K-Akt, MAPK and Hippo signaling pathways were among the top five most enriched pathways. Conclusion: Three DE miRs were linked to airflow obstruction in children with asthma. Two miRs were associated with FEV1/FVC in current and former smoking adults. These miRs were involved in asthma and COPD-related pathways: PI3K-Akt, Hippo, MAPK, and focal adhesion signaling pathways. Together these findings provide important evidence that these two disorders may share genetic regulatory systems that contribute to airflow obstruction.

Dataset Information

Clinical, epidemiological, and therapeutic profile of patients with a retinoblastoma diagnosis experience in the Costa Rica National Children's Hospital Oncology Unit from January 2009 to December 2015.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets