791 research outputs found
Prenatal origin of childhood AML occurs less frequently than in childhood ALL
Background While there is enough convincing evidence in childhood acute lymphoblastic leukemia (ALL), the data on the pre-natal origin in childhood acute myeloid leukemia (AML) are less comprehensive. Our study aimed to screen Guthrie cards (neonatal blood spots) of non-infant childhood AML and ALL patients for the presence of their respective leukemic markers. Methods We analysed Guthrie cards of 12 ALL patients aged 2â6 years using immunoglobulin (Ig) and T-cell receptor (TCR) gene rearrangements (n = 15) and/or intronic breakpoints of TEL/AML1 fusion gene (n = 3). In AML patients (n = 13, age 1â14 years) PML/RARalpha (n = 4), CBFbeta/MYH11 (n = 3), AML1/ETO (n = 2), MLL/AF6 (n = 1), MLL/AF9 (n = 1) and MLL/AF10 (n = 1) fusion genes and/or internal tandem duplication of FLT3 gene (FLT3/ITD) (n = 2) were used as clonotypic markers. Assay sensitivity determined using serial dilutions of patient DNA into the DNA of a healthy donor allowed us to detect the pre-leukemic clone in Guthrie card providing 1â3 positive cells were present in the neonatal blood spot. Results In 3 patients with ALL (25%) we reproducibly detected their leukemic markers (Ig/TCR n = 2; TEL/AML1 n = 1) in the Guthrie card. We did not find patient-specific molecular markers in any patient with AML. Conclusion In the largest cohort examined so far we used identical approach for the backtracking of non-infant childhood ALL and AML. Our data suggest that either the prenatal origin of AML is less frequent or the load of pre-leukemic cells is significantly lower at birth in AML compared to ALL cases
Pulsed Radiofrequency Rhizotomy of the Genicular Nerves of the Knee Guided by Radioscopy and Ultrasonography: Step-By-Step Technique
Osteoarthritis (OA) of the knee is highly prevalent and causes pain, stiffness, and harms the quality of life of millions of patients. Scientific evidence about radiofrequency ablation or rhizotomy of genicular nerves has been presented with increasing frequency in the literature for the treatment of chronic pain related to knee OA as an alternative to total knee arthroplasty. The main indication for this procedure is symptomatic OA unresponsive to conservative treatment, regardless of the disease evolution, although more common indications are in Kellgren-Lawrence grade III or IV, in post-total knee arthroplasty residual pain without an identified cause, in patients with comorbidities and high surgical risk, and those who do not want to undergo surgery. The aim of this study is to describe the step-by-step rhizotomy technique with pulsed radiofrequency of the 3 genicular nerves, guided by radioscopy and ultrasonography.info:eu-repo/semantics/publishedVersio
Non-invasive vagus nerve stimulation acutely improves spontaneous cardiac baroreflex sensitivity in healthy young men: A randomized placebo-controlled trial
Background Despite positive outcomes of transcutaneous vagus nerve stimulation (tVNS) via the auricular branch of the vagus nerve (ABVN), the mechanisms underlying these outcomes remain unclear. Additionally, previous studies have not been controlled the possible placebo effects of tVNS. Objective To test the hypothesis that tVNS acutely improves spontaneous cardiac baroreflex sensitivity (cBRS) and autonomic modulation, and that these effects are specific to stimulation of ABVN. Methods Thirteen healthy men (23±1yrs) were randomized across three experimental visits. In active tVNS, electrodes were placed on the tragus of the ear and electrical current was applied by using a Transcutaneous Electrical Nerve Stimulation device. A time-control visit was performed with the electrodes placed on tragus, but no current was applied (sham-T). Additionally, to avoid a placebo effect, another sham protocol was performed with same electrical current of the active visit, but the electrodes were placed on the ear lobe (an area without cutaneous nerve endings from the vagus â tLS). Beat-to-beat heart rate (HR) and blood pressure (BP) were monitored at rest, during stimulation (active, sham-T and tLS) and recovery. cBRS was measured via sequence technique. Both HR (HRV) and BP variability (BPV) were also measured. Results Arterial BP and BPV were not affected by any active or sham protocols (P>0.05). Resting HR and LF/HF ratio of HRV decreased (Îâ3.4±1% and Îâ15±12%, P<0.05, respectively) and cBRS increased (Î24±8%, P<0.05) during active tVNS, but were unchanged during both sham protocols. Conclusion tVNS acutely improves cBRS and autonomic modulation in healthy young men
History of adversity, health and psychopathology among prisoners: comparison between men and women
Adversity in childhood, risk behaviors
and psychopathology are highly prevalent phenomena
in inmate populations and have a strong
impact on health. Knowing the differences in these
variables between the sexes is most important in
order to develop appropriate intervention strategies
in a prison context. By administering the
Socio-demographic and Life History Questionnaire
and the Brief Symptoms Inventory, we
sought to characterize adverse childhood experiences
and relate them to risk behaviors and to
psychopathological symptoms, and study the differences
between the 65 male and 42 female detainees
in Portuguese prison establishments. Men
and women report a complex web of adversity in
childhood. In a range of ten possible categories, a
medium value of 5.05 (DP = 2.63) in total adversity
for women and 2.63 (DP = 2.18) for men was
encountered, with the prevalence being significantly
higher within the female population (Z =
-4.33; p = .000). A high prevalence of risk behaviors
and psychopathological symptoms was found
in both groups, the latter being higher among females.
We concluded that the differences between
men and women calls for in depth studies in order
to provide guidelines for intervention projects
in specific populations.Adversidade na infĂąncia, comportamentos
de risco e psicopatologia sĂŁo fenĂłmenos muito
prevalentes na população reclusa e com forte impacto
na saĂșde. Conhecer as diferenças entre sexos,
no que diz respeito a tais variĂĄveis, Ă© de elevada
importùncia no sentido de adequar estraté-
gias de intervenção em contexto prisional. Utilizando
o QuestionĂĄrio SociodemogrĂĄfico e HistĂł-
ria de Vida, o QuestionĂĄrio de Adversidade na
InfĂąncia e o Brief Symptons Inventory, procuramos
caracterizar a adversidade na infĂąncia, os
comportamentos de risco e as dimensÔes psicopatológicas,
e averiguar as diferenças entre 65 homens
e 42 mulheres reclusos em estabelecimentos
prisionais Portugueses. Homens e mulheres relatam
um quadro complexo de adversidade na infĂąncia.
Num total possĂvel de dez categorias, verificamos
uma média de adversidade total de 5.05
(DP = 2.63) para as mulheres e de 2.63 (DP =
2.18) para os homens, sendo a prevalĂȘncia significativamente
mais elevada junto da população
feminina (Z = -4.33; p = .000). Foi ainda encontrada
uma elevada prevalĂȘncia de comportamentos
de risco e de sintomatologia psicopatolĂłgica
em ambos os grupos, sendo esta Ășltima superior
nas mulheres. ConcluĂmos que as diferenças entre
sexos devem ser estudadas para guiarem a adequação
dos projetos
Presence of clone-specific markers at birth in children with acute lymphoblastic leukaemia
Recent studies have suggested that development of childhood acute lymphoblastic leukaemia may often be initiated in utero. To provide further evidence of an prenatal origin of childhood leukaemia, we conducted a molecular biological investigation of nine children with B-precursor acute lymphoblastic leukaemia carrying the chromosomal translocation t(12;21), the most common subtype of all childhood acute lymphoblastic leukaemia. Specifically, for each child we identified the non-constitutive chromosomal sequences made up by the t(12;21) fusion gene. From these, leukaemia clone-specific DNA primers were constructed and applied in nested polymerase chain reaction analyses of DNA extracted from the patients' Guthrie cards obtained at birth. Leukaemia clone-specific fusion gene regions were demonstrated in Guthrie card DNA of three patients, age 2 years 11 months, 3 years 4 months, and 5 years 8 months at leukaemia diagnosis. Our findings are consistent with previous observations, and thus provide further evidence that the development of t(12;21) B-precursor acute lymphoblastic leukaemia may be initiated in utero. Review of the current literature moreover indicates that age at leukaemia may be inversely correlated with the burden of cells with leukaemia clonal markers, i.e. leukaemia predisposed cells at birth, and that certain types of childhood acute lymphoblastic leukaemia develop as a multiple step process involving both pre- and postnatal genetic events
Phenotypic redshifts with self-organizing maps: A novel method to characterize redshift distributions of source galaxies for weak lensing
Wide-field imaging surveys such as the Dark Energy Survey (DES) rely on
coarse measurements of spectral energy distributions in a few filters to
estimate the redshift distribution of source galaxies. In this regime, sample
variance, shot noise, and selection effects limit the attainable accuracy of
redshift calibration and thus of cosmological constraints. We present a new
method to combine wide-field, few-filter measurements with catalogs from deep
fields with additional filters and sufficiently low photometric noise to break
degeneracies in photometric redshifts. The multi-band deep field is used as an
intermediary between wide-field observations and accurate redshifts, greatly
reducing sample variance, shot noise, and selection effects. Our implementation
of the method uses self-organizing maps to group galaxies into phenotypes based
on their observed fluxes, and is tested using a mock DES catalog created from
N-body simulations. It yields a typical uncertainty on the mean redshift in
each of five tomographic bins for an idealized simulation of the DES Year 3
weak-lensing tomographic analysis of , which is a
60% improvement compared to the Year 1 analysis. Although the implementation of
the method is tailored to DES, its formalism can be applied to other large
photometric surveys with a similar observing strategy.Comment: 24 pages, 11 figures; matches version accepted to MNRA
Genome of the Avirulent Human-Infective TrypanosomeâTrypanosoma rangeli
Background: Trypanosoma rangeli is a hemoflagellate protozoan parasite infecting humans and other wild and domestic mammals across Central and South America. It does not cause human disease, but it can be mistaken for the etiologic agent of Chagas disease, Trypanosoma cruzi. We have sequenced the T. rangeli genome to provide new tools for elucidating the distinct and intriguing biology of this species and the key pathways related to interaction with its arthropod and mammalian hosts. Methodology/Principal Findings: The T. rangeli haploid genome is ,24 Mb in length, and is the smallest and least repetitive trypanosomatid genome sequenced thus far. This parasite genome has shorter subtelomeric sequences compared to those of T. cruzi and T. brucei; displays intraspecific karyotype variability and lacks minichromosomes. Of the predicted 7,613 protein coding sequences, functional annotations could be determined for 2,415, while 5,043 are hypothetical proteins, some with evidence of protein expression. 7,101 genes (93%) are shared with other trypanosomatids that infect humans. An ortholog of the dcl2 gene involved in the T. brucei RNAi pathway was found in T. rangeli, but the RNAi machinery is non-functional since the other genes in this pathway are pseudogenized. T. rangeli is highly susceptible to oxidative stress, a phenotype that may be explained by a smaller number of anti-oxidant defense enzymes and heatshock proteins. Conclusions/Significance: Phylogenetic comparison of nuclear and mitochondrial genes indicates that T. rangeli and T. cruzi are equidistant from T. brucei. In addition to revealing new aspects of trypanosome co-evolution within the vertebrate and invertebrate hosts, comparative genomic analysis with pathogenic trypanosomatids provides valuable new information that can be further explored with the aim of developing better diagnostic tools and/or therapeutic targets
Ecological study of socio-economic indicators and prevalence of asthma in schoolchildren in urban Brazil
BACKGROUND: There is evidence of higher prevalence of asthma in populations of lower socio-economic status in affluent societies, and the prevalence of asthma is also very high in some Latin American countries, where societies are characterized by a marked inequality in wealth. This study aimed to examine the relationship between estimates of asthma prevalence based on surveys conducted in children in Brazilian cities and health and socioeconomic indicators measured at the population level in the same cities. METHODS: We searched the literature in the medical databases and in the annals of scientific meeting, retrieving population-based surveys of asthma that were conducted in Brazil using the methodology defined by the International Study of Asthma and Allergies in Childhood. We performed separate analyses for the age groups 6-7 years and 13-14 years. We examined the association between asthma prevalence rates and eleven health and socio-economic indicators by visual inspection and using linear regression models weighed by the inverse of the variance of each survey. RESULTS: Six health and socioeconomic variables showed a clear pattern of association with asthma. The prevalence of asthma increased with poorer sanitation and with higher infant mortality at birth and at survey year, GINI index and external mortality. In contrast, asthma prevalence decreased with higher illiteracy rates. CONCLUSION: The prevalence of asthma in urban areas of Brazil, a middle income country, appears to be higher in cities with more marked poverty or inequality
Editorial: Observational studies in ADHD: the effects of switching to modified-release methylphenidate preparations on clinical outcomes and adherence
Patients with ADHD may have better adherence to treatment with modified-release methylphenidate (MPH-MR) formulations, which are taken once daily, compared with immediate-release (IR) formulations, which need to be taken several times a day. Data on long-term outcomes such as adherence may be lacking from randomised controlled trials as these are usually only short-term. Observational studies, if performed and reported appropriately, can provide valuable long-term data on such outcomes, as well as additional information on effectiveness and efficiency, from a real-life setting. By reviewing previous observational studies that have investigated switching treatment from MPH-IR to MPH-MR, results from a new, naturalistic observational study, the OBSEER study, are put into context. We conclude that, based on observational trial data, switching from MPH-IR to MPH-MR is a valid clinical approach, with the potential for improved clinical outcome and treatment adherence
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