Background Biobanking is a relatively new concept in Egypt. Building a good relationship with different stakeholders is essential for the social sustainability of biobanks. To establish this relationship, it is necessary to assess the attitude of different groups towards this concept. The objective of this work is to assess the knowledge, attitude, and opinions of Egyptian patients towards biobanking issues. Methods We designed a structured survey to be administered to patients coming to the outpatient clinics in 3 university hospitals in Egypt. The survey included questions estimating the level of knowledge about the term “Biobank”, together with questions about the attitudes and opinions about related issues. Results Two hundred and fifty-nine patients participated in the survey. Eighty-one percent of participants reported that they never heard about the term before. About 85% expressed that they would be willing to donate their samples for research and about 87% thought that sample donation did not contradict their religious beliefs. Fifty eight percent were willing to participate in a genetic research project, 27.8% supported sharing their sample with pharmaceutical companies, and 32.4% agreed to share their samples with institutions abroad. Conclusion Although there is limited knowledge about biobanking among Egyptian patients, many had a positive attitude towards sample donation and didn’t show religious concerns against it. However, they showed concerns regarding participation in genetic research and with sharing their samples across borders or with pharmaceutical companies. Public education about biobanking is possible, taking into consideration the specific cultural and legal framework in Egypt. Electronic supplementary material The online version of this article (10.1186/s12910-019-0394-6) contains supplementary material, which is available to authorized users.

BackgroundBiobanks have become a powerful tool that fosters biomedical research. The success of biobanks depends upon people’s perception and willingness to donate their samples for research. This is the first biorepository in Egypt, hence, little is known about the beliefs and attitudes of parents toward participation.AimTo investigate the level of willingness of Egyptians to donate samples of their children and themselves for research and the different factors influencing participation.Materials and methodsA structured questionnaire was designed covering multiple items expected to affect the enrollment decision. This was conducted in-person, and data collected included demographic data, socioeconomic, and educational level. In addition, in the case of refusal, participants were asked about reasons behind their decision.ResultsOnly about 3.1% of patients have not been enrolled in the project, and 0.3% have withdrawn. Three demographic factors were found having disparate trends in the decision-making process to participate or not: father’s education (p = 0.0001), mother’s education (p = 0.0001), and father’s age (p = 0.034).ConclusionEgyptian parents were willing to donate their samples as well as their children’s samples in our research biorepository. The idea of participation was presented in an interview during which the consent form was explained in a comprehensive transparent way allowing participants the right to refuse or withdraw at any time. Still, different communication approaches are needed with older, more highly educated parents to encourage them to participate.

Background. Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in children. Fifty percent of RMS cases occur in the first 10 years of life and less commonly in infants younger than one-year old. These infants require adapted multimodality treatment approaches. Patients and Methods. We analyzed patients' characteristics, treatment modalities, and the outcome for RMS infants treated at Children's Cancer Hospital Egypt (CCHE) between July 2007 and December 2010 and compared them to patients above one year treated on the same protocol. Results. Out of the 126 RMS treated during this period, 18 were below the age of one year. The male: female ratio was 1.25 : 1. The median age at diagnosis was 0.7 ± 0.2 years. Most of the cases (27.8%) were presented in head and neck regions. The estimated 4-years failure-free survival and overall survival for infants were 49 ± 12% and 70 ± 12%, respectively. These failure-free survival rate and overall survival rate did not differ from those for older patients (P = 0.2). Conclusion. Infants with RMS are a unique group of RMS who needs special concerns in tailoring treatment in addition to concerns regarding toxicity and morbidity in infants.

PM RMS remains a diagnostic and therapeutic problem. Late presentation and advanced local disease compromise treatment options and decrease OS and EFS.

Building a high quality biorepository with minimal-resources to encourage research is possible. Having the suitable infrastructure with a significant number of clinically annotated samples can play a major role in international research projects, sharing samples and/or data with other groups.

T he Centre for Human Metabolomics (CHM) Biobank was established in the beginning of 2019 and is the first congenital rare disease biobank in South Africa and Africa. Congenital disorders are a very important cause of spontaneous abortions, stillbirths, infant and childhood deaths, as well as chronic illness and disability.

The frequency of anaplasia in pediatric patients with rhabdomyosarcoma in our study was 17.1%. The presence of anaplasia had statistically significant worse clinical outcome.

BackgroundRhabdomyosarcoma (RMS) is a small round blue cell malignant tumor, representing 7% of childhood malignancies, and over 50% of all soft tissue sarcomas. Cyclophosphamide (CPA) is a prodrug and is the mainstay of RMS treatment. CYP2B6 is a highly polymorphic drug metabolizing enzyme involved in CPA bioactivation. The influence of CYP2B6 single nucleotide polymorphisms (SNPs) on the survival of RMS is still unknown.MethodsWe genotyped CYP2B6SNPs rs2279343, rs3745274, and rs3211371 by restriction fragment polymorphism (RFLP) after PCR amplification in a cohort of 73 pediatric RMS patients treated with CPA-based first line treatment. We then analyzed the association between those genotypes and survival outcome of RMS.ResultsThe frequencies of CYP2B6 rs2279343, rs3745274, and rs3211371 were 63%, 45.2%, and 5.5%, respectively. There was no association between rs3745274, rs3211371 genotypes and survival outcomes of RMS. However, the carriers of at least one mutant allele CYP2B6rs2279343 had significantly longer event-free survival (p-value = 0.03).ConclusionOur results demonstrated that CYP2B6 rs2279343 may predict EFS in RMS patients and warrants future studies to clarify the pharmacogenetics of CPA in pediatrics. If validated, integration of genetic factors with clinical and molecular characteristics could be used for a composite algorithm to better stratify risk prior to treatment.