27 research outputs found

    Environmental, maternal, and reproductive risk factors for childhood acute lymphoblastic leukemia in Egypt : a case-control study

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    BACKGROUND\ud Acute lymphocytic leukemia (ALL) is the most common pediatric cancer. The exact cause is not known in most cases, but past epidemiological research has suggested a number of potential risk factors. This study evaluated associations between environmental and parental factors and the risk for ALL in Egyptian children to gain insight into risk factors in this developing country.\ud METHODS\ud We conducted a case-control design from May 2009 to February 2012. Cases were recruited from Children's Cancer Hospital, Egypt (CCHE). Healthy controls were randomly selected from the general population to frequency-match the cumulative group of cases by sex, age groups (<1; 1 - 5; >5 - 10; >10 years) and region of residence (Cairo metropolitan region, Nile Delta region (North), and Upper Egypt (South)). Mothers provided answers to an administered questionnaire about their environmental exposures and health history including those of the father. Odds ratios (ORs) and 95 % confidence intervals (CI) were calculated using logistic regression with adjustment for covariates.\ud RESULTS\ud Two hundred ninety-nine ALL cases and 351 population-based controls frequency-matched for age group, gender and location were recruited. The risk of ALL was increased with the mother's use of medications for ovulation induction (ORadj = 2.5, 95 % CI =1.2 -5.1) and to a lesser extend with her age (ORadj = 1.8, 95 % CI = 1.1 - 2.8, for mothers ≥ 30 years old). Delivering the child by Cesarean section, was also associated with increased risk (ORadj = 2.01, 95 % CI =1.24-2.81).\ud CONCLUSIONS\ud In Egypt, the risk for childhood ALL appears to be associated with older maternal age, and certain maternal reproductive factors

    Surface integrity in metal machining - Part II: Functional performance

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    Material removal operations play a pivotal role in the manufacture of key components, required for engineering systems to operate safely and efficiently under ever more advanced functional requirements and over extended life cycles. To further step up the loading capability of machined parts, fundamental understanding of how of machining-induced features can influence the performance of advanced materials under complex service conditions is necessary over finer temporal and spatial scales. As discussed in Part I of this review, when engineering surfaces are generated by material removal processes, a wide range of physical mechanisms (e.g. mechanical, thermal, chemical and their combinations) drive the characteristics of workpiece surface integrity. In Part II of this review, the interplay between the metallurgical and micro-mechanical condition induced by material removal processes and their in-service response will be thoroughly explored, by a critical analysis of the state-of-the-art in the field. Specifically, attention is focused on recent advances made towards the understanding of the mechanisms determining the resistance of machined surface to fatigue crack nucleation (Section 2), corrosion and stress-corrosion cracking (Section 3), and wear (Section 4). Furthermore, the impact of relevant post-machining treatments on the in-service behaviour of machined surfaces is analysed, and the possible strategies for the enhancement of the functional performance of machined surfaces are presented (Section 5). Finally, the current research gaps and the prospective challenges in understanding the in-service behaviour of machined surfaces are critically discussed, providing an interpretation of the possible directions of future scientific development of this field

    Novel compound heterozygous missense mutations in GDAP1 cause Charcot–Marie–Tooth type 4A

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    Homozygous or compound heterozygous mutations in the GDAP1 gene cause Charcot–Marie–Tooth (CMT4A) that are consistent with an autosomal recessive mode of inheritance. The case reported in this study is clinically and genetically diagnosed with recessive CMT4A that is caused by a compound novel heterozygous GDAP1 mutation. The genomic DNA of the proband with the clinical diagnosis of CMT was screened for GDAP1 mutations using a targeted next-generation sequencing (NGS) gene-panel that comprised of 27 CMT genes. Two novel compound heterozygous amino acid changing variants were identified in the GDAP1 gene, c.246C>G p.His82Gln in exon 2 and c.614T>G p.Leu205Trp in exon 5. The two amino acid changing variants were not previously reported in the 1000 Genome, Mutation Taster and gnomAD. Our findings expand the phenotypic characterization of the two novel heterozygous mutations associated with CMT4A (AR-CMT1A) and add to the repertoire of GDAP1 mutations related to autosomal recessive CMT in Chinese populations.</p

    Are multidisciplinary teams a legal shield or just a clinical comfort blanket?

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    Discussion about and management of patients through multidisciplinary team meetings has become the standard of care in medical and surgical specialties, but does the team nature of these provide a legal shield for clinicians? This article discusses the legal implications of decision making within a multidisciplinary team
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