Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling

Achromatopsia is an autosomal recessive disease of the retina, characterized clinically by an inability to distinguish colors, impaired visual acuity, nystagmus and photophobia. A genome-wide search for linkage was performed using an inbred Jewish kindred from Iran. To facilitate the genome-wide search, we utilized a DNA pooling strategy which takes advantage of the likelihood that the disease in this inbred kindred is inherited by all affected individuals from a common founder. Equal molar amounts of DNA from all affected individuals were pooled and used as the PCR template for short tandem repeat polymorphic markers (STRPs). Pooled DNA from unaffected members of the kindred was used as a control. A reduction in the number of alleles in the affected versus control pool was observed at several loci. Upon genotyping of individual family members, significant linkage was established between the disease phenotype and markers localized on chromosome 2. The highest LOD score observed was 5.4 (theta = 0). When four additional small unrelated families were genotyped, the combined peak LOD score was 8.2. Analysis of recombinant chromosomes revealed that the disease gene lies within a 30 cM interval which spans the centromere. Additional fine-mapping studies identified a region of homozygosity in all affected individuals, narrowing the region to 14 cM. A candidate gene for achromatopsia was excluded from this disease interval by radiation hybrid mapping. Linkage of achromatopsia to chromosome 2 is an essential first step in the identification of the disease-causing gene.      

Study of some of the mechanisms involved in the prevention against Salmonella enteritidis serovar Typhimurium infection by lactic acid bacteria

The possible mechanism exerted by different lactic acid bacteria (LAB) in the protection against Salmonella enteritidis serovar Typhimurium (S. typhimurium) infection was determined. LAB was administered to BALB/c mice, and the animals were subsequently challenged with S. typhimurium. The inhibition of the translocation of S. typhimurium in the liver was correlated with a decrease in cellular apoptosis determined in slices from the small intestine of mice. The microbiocidal activity of peritoneal macrophages was increased by Lactobacillus delbrueckii subsp. bulgaricus and Streptococcus thermophilus, but not for the probiotic strain L. casei CRL 431. The levels of IFNγ and Bcl-2 positive cells in the small intestine of mice fed with the LAB were also determined by immunofluorescence. Using in vivo studies, we demonstrated that the biological and immune mechanisms induced by the LAB studied were different for each bacterium and were mediated by anti-S. typhimurium S-IgA microbiocidal activity and/or cellular apoptosis inhibition of infected immune cells.     

The psychosocial stress-induced increase in salivary alpha-amylase is independent of saliva flow rate

The stress response of salivary alpha-amylase (sAA) has been suggested as an index for sympathetic nervous system activation. However, concurrent inhibition of the parasympathetic nervous system is discussed as a confounder due to suppression of saliva flow rate. Here we set out to test the influence of stress-induced changes in flow rate on sAA secretion. Twenty-six subjects underwent the Trier Social Stress Test and a control condition. Saliva was sampled by passive drooling or salivettes. Saliva flow rate, sAA levels and output, salivary cortisol, and heart rate variability were measured. Flow rate increased only when sampled by passive drooling. Stress-induced increases in amylase levels were correlated with increases of amylase output but not with flow rate. Results indicate that flow rate is not a confounder of stress-induced sAA activation and suggest that valid measurements of sAA can be obtained by salivettes without the need for assessment of flow rate.     

High prevalence of hepatitis C virus subtypes 4c and 4d in Malaga (Spain): phylogenetic and epidemiological analyses

Hepatitis C virus (HCV) is a major aetiological agent of chronic hepatitis and it may lead to the development of liver cirrhosis and hepatocellular carcinoma. HCV has been classified into six clades as a result of high genetic variability. A commercial procedure to genotype HCV in 678 patients from Carlos Haya Regional University Hospital, Malaga was used to study the distribution of HCV genotypes in Malaga, southern Spain. A high prevalence of HCV-4 (10.2%) was found. This genotype is found more commonly in Egypt, Central Africa and the Middle East. The distribution of the different subtypes in the 69 patients with HCV-4 was as follows: 4.3% subtype 4e, 7.2% subtype 4a, 11.5% not subtypable, and 76.8% subtype 4c/4d. Of the 53 4c/4d patients, 69% were intravenous drug users and 31% non-intravenous drug users. In order to characterise further the HCV-4c/4d patients, sequences of the non-structural 5B gene (393 bp) were obtained from 36 HCV-4c/4d-infected untreated patients. Phylogenetic tree topologies distinguished clearly the two subtypes: 11 patients were infected by subtype 4c and 25 by 4d. This phylogenetic analysis, reinforced by the epidemiological characteristics, suggests the extension of the HCV-4c and -4d subtypes in the area of Malaga among both intravenous drug users and non-intravenous drug users.     

Untapped Resources: Attaining Equitable Representation for Women in IR

Purpose

To investigate the current state of gender diversity among invited coordinators at the Society of Interventional Radiology (SIR) Annual Scientific Meeting and to compare the academic productivity of female interventional radiologists to that of invited male coordinators.

Association of sedentary time and physical activity with pain,fatigue, and impact of fibromyalgia: the al‐Ándalus study

We examined the association of objectively measured sedentary time (ST) and physical activity (PA) levels with pain, fatigue, and the impact of the disease in women with fibromyalgia. Four hundred and nineteen (mean age ± SD = 51.7 ± 7.6 years old) women with fibromyalgia participated. ST and PA levels (light, moderate, and moderate‐to‐vigorous [MVPA]) were measured with triaxial accelerometry. We assessed experimental pain with algometry and clinical pain, fatigue, and impact of fibromyalgia with a number of questionnaires. The association of ST and light PA with most of the pain‐ and fatigue‐related outcomes and impact of fibromyalgia (all, P ≤ 0.019) was independent of moderate and vigorous PA. Furthermore, the association of vigorous PA with general and physical fatigue was independent of ST and light and moderate PA (all, P < 0.001). In conclusion, lower levels of ST or higher levels of light PA are associated with lower pain, fatigue, and the overall impact of the disease independent of moderate and vigorous PA in women with fibromyalgia. Interestingly, higher vigorous PA is independently associated with lower general and physical fatigue. These results are significant for future ST and PA intervention studies in this population.     

Neural mechanisms underlying urgent and evaluative behaviors: An fMRI study on the interaction of automatic and controlled processes

Dual‐process theories have dominated the study of risk perception and risk‐taking over the last two decades. However, there is a lack of objective brain‐level evidence supporting the two systems of processing in every‐day risky behavior. To address this issue, we propose the dissociation between evaluative and urgent behaviors as evidence of dual processing in risky driving situations. Our findings show a dissociation of evaluative and urgent behavior both at the behavioral and neural level. fMRI data showed an increase of activation in areas implicated in motor programming, emotional processing, and visuomotor integration in urgent behavior compared to evaluative behavior. These results support a more automatic processing of risk in urgent tasks, relying mainly on heuristics and experiential appraisal. The urgent task, which is characterized by strong time pressure and the possibility for negative consequences among others factors, creates a suitable context for the experiential‐affective system to guide the decision‐making process. Moreover, we observed greater frontal activation in the urgent task, suggesting the participation of cognitive control in safe behaviors. The findings of this research are relevant for the study of the neural mechanisms underlying dual process models in risky perception and decision‐making, especially because of their proximity to everyday activities. Hum Brain Mapp 36:2853–2864, 2015. © 2015 Wiley Periodicals, Inc.     

Living without psychiatrists in the Andes: Plight and resilience of the Quichua (Inca) People

There is an estimated 30 million indigenous peoples in South America. Most of them live in the Andes. Regional states and governments neglect their health care needs and exclude them from the conventional Western health services in general and mental health care in particular. This review first describes this population's current situation of social exclusion, poverty and poor health. The problem of mental health care inequities in the region is illustrated through the case of the Quichua people. Indeed, for the population of over 5 million Quichua people in Ecuador, there are no psychiatric services. There are no culturally sensitive services offered in the Quichua language. The doctor–Quichua patient communication is poor and interactions are loaded with prejudice. The review provides a rationale for the Quichuas' reluctance to seek medical doctors in Ecuador. Finally, traditional healers' contribution to the mental health care of indigenous peoples is stressed, as well as their preference for a form of medical pluralism, mainly combining both traditional Quichua medicine and Western medicine. Woeful inequalities and inaccessibility to psychological and biomedical psychiatric care still widely affect the children of the sun in the Pacific Rim.     

The chemotherapy of lymphoblastic lymphoma

Thirty-two patients treated on consecutive Southwest Oncology Group (SWOG) protocols for malignant lymphoma were subsequently diagnosed as having lymphoblastic lymphoma. Combination chemistry, usually adriamycin-based, produced complete responses (CR) in 17 patients (53%). Median survival was 15 mo. Patients achieving a CR survival significantly longer than patients with partial or no response (p < 0.01). Ten of 24 patients not receiving central nervous system (CNS) prophylaxis developed leptomeningeal lymphoma while none of the seven patients who received prophylactic intrathecal cytosine arabinoside or methotrexate developed CNS lymphoma (p = 0.04). Implications of these results for planning future treatment programs of lymphoblastic lymphoma are discussed.