Search

ObjectiveTo systematically review the literature on women's experiences traveling for abortion and assess how this concept has been explored and operationalized, with a focus on travel distance, cost, delays, and other barriers to receiving services.BackgroundIncreasing limitations on abortion providers and access to care have increased the necessity of travel for abortion services around the world. No systematic examination of women's experiences traveling for abortion has been conducted; this mixed-methods review provides a summary of the qualitative and quantitative literature on this topic.MethodsA systematic search was conducted using PubMed, Embase, Web of Science, Popline, and Google Scholar in July 2016 and updated in March 2017 (PROSPERO registration # CRD42016046007). We included original research studies that described women's experiences traveling for abortion. Two reviewers independently performed article screening, data extraction and determination of final inclusion for analysis. Critical appraisal was conducted using CASP, STROBE, and MMAT checklists.ResultsWe included 59 publications: 46 quantitative studies, 12 qualitative studies, and 1 mixed-methods study. Most studies were published in the last five years, relied on data from the US, and discussed travel as a secondary outcome of interest. In quantitative studies, travel was primarily conceptualized and measured as road or straight-line distance to abortion provider, though some studies also incorporated measures of burdens related to travel, such as financial cost, childcare needs, and unwanted disclosure of their abortion status to others. Qualitative studies explored regional disparities in access to abortion care, with a focus on the burdens related to travel, the impact of travel on abortion method choice, and women's reasons for travel. Studies generally were of high quality, though many studies lacked information on participant recruitment or consideration of potential biases.ConclusionsStandardized measurements of travel, including burdens associated with travel and more nuanced considerations of travel costs, should be implemented in order to facilitate comparison across studies. More research is needed to explore and accurately capture different dimensions of the burden of travel for abortion services on women's lives.

Tripeptidyl-peptidase 1 (TPP1) null or residual activity occurs in neuronal ceroid lipofuscinosis (NCL) with underlying TPP1/CLN2 mutations. A survey of 25 South American CLN2 affected individuals enabled the differentiation of two phenotypes: classical late-infantile and variant juvenile, each in approximately 50% of patients, with residual TPP1 activity occurring in approximately 32%. Each individual was assigned to one of three subgroups: (I) n = 11, null TPP1 activity in leukocytes; (II) n = 8, residual TPP1 activity of 0.60–15.85 nmol/h/mg (nr 110–476); (III) n = 6, activity not measured in leukocytes. Curvilinear bodies (CB) appeared in almost all studied CLN2 subjects; the only exceptions occurred in cases of subgroup II: two individuals had combined CBs/fingerprints (FPs), and one case had pure FPs. There were 15 mutations (4 first published in this paper, 3 previously observed in South America by our group, and 8 previously observed by others). In subgroup I, mutations were either missense or nonsense; in subgroups II and III, mutations prevailed at the non-conserved intronic site, c.887 − 10A>G (intron 7), and to a lesser extent at c.89 + 5G>C (intron 2), in heterozygous combinations. Grouping phenotypically and genetically known individuals on the basis of TPP1 activity supported the concept that residual enzyme activity underlies a protracted disease course. The prevalence of intronic mutations at non-conserved sites in subgroup II individuals indicates that some alternative splicing might allow some residual TPP1 activity.

Cystic Fibrosis (CF) is an autosomal recessive disorder affecting 1/2000-4000 newborns in Caucasian populations. This lethal disease mainly affects respiratory and digestive organs as well as fertility in man. So far, the CF prevalence and mutational spectrum have showed specificity among populations and regions, making it necessary to establish them in each one. In this study, we present the spectrum and frequency of CFTR gene mutations in CF patients from Cordoba (a province with 3.1 millions inhabitants in the middle of Argentina) and its zone of influence, to offer an accurate genetic testing. The study includes 78 families in which 98 patients fulfilled clinical criteria to CF diagnosis. The strategy for the molecular diagnosis comprised analysis of 21 common mutations, microsatellite haplotypes and the complete CFTR gene analysis using scanning techniques followed by sequencing of the abnormal migration patterns. Our first step led us to the identification of 10 mutations that represented 76% of alleles. Another four mutations (p.R1066C, c.1811 + 1.6 kbA > G, c.711 + 1G > T, and p.G85E) were found based on the microsatellite haplotype-mutation association. Finally, 14 mutations were characterized after the CFTR gene scanning, three of them are not previously described (p.G27R, c.622-2A > G, and p.W277R). In summary, we have identified 27 mutations accounting for 94.23% of CF alleles. This characteristic mutational spectrum highlights the 14 most frequent mutations (>1%) in the Cordoba region.

Sandhoff disease (SD) is a lysosomal disorder caused by mutations in the HEXB gene. To date, 43 mutations of HEXB have been described, including 3 large deletions. Here, we have characterized 14 unrelated SD patients and developed a Multiplex Ligation-dependent Probe Amplification (MLPA) assay to investigate the presence of large HEXB deletions. Overall, we identified 16 alleles, 9 of which were novel, including 4 sequence variation leading to aminoacid changes [c.626C>T (p.T209I), c.634C>A (p.H212N), c.926G>T (p.C309F), c.1451G>A (p.G484E)] 3 intronic mutations (c.1082+5G>A, c.1242+1G>A, c.1169+5G>A), 1 nonsense mutation c.146C>A (p.S49X) and 1 small in-frame deletion c.1260_1265delAGTTGA (p.V421_E422del). Using the new MLPA assay, 2 previously described deletions were identified. In vitro expression studies showed that proteins bearing aminoacid changes p.T209I and p.G484E presented a very low or absent activity, while proteins bearing the p.H212N and p.C309F changes retained a significant residual activity. The detrimental effect of the 3 novel intronic mutations on the HEXB mRNA processing was demonstrated using a minigene assay. Unprecedentedly, minigene studies revealed the presence of a novel alternative spliced HEXB mRNA variant also present in normal cells. In conclusion, we provided new insights into the molecular basis of SD and validated an MLPA assay for detecting large HEXB deletions.