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1.
Int J Food Sci Nutr ; : 1-9, 2024 Apr 19.
Artículo en Inglés | MEDLINE | ID: mdl-38639183

RESUMEN

The aim of this study was to evaluate the accuracy of nutrient intake assessment with the food group-based algorithm "Calculator of Inadequate Micronutrient Intake" (CIMI) in comparison to the established nutrition software NutriSurvey. Using Food Frequency Questionnaires and 24-h dietary recalls of 1010 women from two rural districts in Tanzania, 23 relevant typical Tanzanian food groups were identified and subsequently the dietary protocols assessed via CIMI algorithm were compared by bivariate correlations and Bland-Altman analysis with the results of the NutriSurvey software (reference) and were set in relation to blood biomarkers of 666 participants. CIMI and NutriSurvey calculations regarding macro- and micronutrient intakes were similar. The Bland-Altman analyses and correlation coefficients of energy (0.931), protein (0.898), iron (0.775) and zinc (0.838) confirm the agreement of both calculations. The food group based CIMI algorithm is a practical tool to identify the inadequacy of macro- and micronutrient intake at population level.

2.
medRxiv ; 2024 Mar 18.
Artículo en Inglés | MEDLINE | ID: mdl-38562723

RESUMEN

Comprehending the mechanism behind human diseases with an established heritable component represents the forefront of personalized medicine. Nevertheless, numerous medically important genes are inaccurately represented in short-read sequencing data analysis due to their complexity and repetitiveness or the so-called 'dark regions' of the human genome. The advent of PacBio as a long-read platform has provided new insights, yet HiFi whole-genome sequencing (WGS) cost remains frequently prohibitive. We introduce a targeted sequencing and analysis framework, Twist Alliance Dark Genes Panel (TADGP), designed to offer phased variants across 389 medically important yet complex autosomal genes. We highlight TADGP accuracy across eleven control samples and compare it to WGS. This demonstrates that TADGP achieves variant calling accuracy comparable to HiFi-WGS data, but at a fraction of the cost. Thus, enabling scalability and broad applicability for studying rare diseases or complementing previously sequenced samples to gain insights into these complex genes. TADGP revealed several candidate variants across all cases and provided insight into LPA diversity when tested on samples from rare disease and cardiovascular disease cohorts. In both cohorts, we identified novel variants affecting individual disease-associated genes (e.g., IKZF1, KCNE1). Nevertheless, the annotation of the variants across these 389 medically important genes remains challenging due to their underrepresentation in ClinVar and gnomAD. Consequently, we also offer an annotation resource to enhance the evaluation and prioritization of these variants. Overall, we can demonstrate that TADGP offers a cost-efficient and scalable approach to routinely assess the dark regions of the human genome with clinical relevance.

3.
Food Chem ; 444: 138679, 2024 Jun 30.
Artículo en Inglés | MEDLINE | ID: mdl-38341920

RESUMEN

Edible insects are attracting increased interest worldwide, because they are arguably more sustainable than more established animal foods. Apart from being rich in protein and minerals, they can also form vitamin D3 after treatment with UVB light (290-315 nm). However, only limited research, which has almost exclusively been conducted on living insects, reared under UVB lamps, has been done in this regard. As research on mushrooms has shown, that vitamin D formation is much more effective and less time consuming, when a previously sliced or ground product is treated with UVB light, it would likely be more practical to treat powdered insects with UVB light, rather than rearing them under UVB lamps. Therefore, the aim of this work was to confirm the presence of vitamin D3 in powdered UVB-treated yellow mealworms (Tenebrio molitor), migratory locusts (Locusta migratoria) and two-spotted crickets (Gryllus bimaculatus) as well as to subsequently quantify potential vitamin D content. Samples were analyzed via HPLC, and presence of vitamin D3 was verified via standard addition and spectrum analysis. UVB-treated migratory locusts and two-spotted crickets did not contain quantifiable amounts of vitamin D3. However, UVB-treated mealworms showed substantial amounts of vitamin D3 (8.95-18.24 µg/g dry matter). Thus, the UVB-treatment of powdered mealworm is an effective approach via which to enhance their vitamin D3 content and even modest serving sizes can supply the recommended daily intake of vitamin D.


Asunto(s)
Insectos Comestibles , Tenebrio , Animales , Vitamina D , Vitaminas , Colecalciferol/análisis , Insectos
4.
Am J Med Genet A ; 194(5): e63522, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38131126

RESUMEN

Despite significant advancements in rare genetic disease diagnostics, many patients with rare genetic disease remain without a molecular diagnosis. Novel tools and methods are needed to improve the detection of disease-associated variants and understand the genetic basis of many rare diseases. Long-read genome sequencing provides improved sequencing in highly repetitive, homologous, and low-complexity regions, and improved assessment of structural variation and complex genomic rearrangements compared to short-read genome sequencing. As such, it is a promising method to explore overlooked genetic variants in rare diseases with a high suspicion of a genetic basis. We therefore applied PacBio HiFi sequencing in a large multi-generational family presenting with autosomal dominant 46,XY differences of sexual development (DSD), for whom extensive molecular testing over multiple decades had failed to identify a molecular diagnosis. This revealed a rare SINE-VNTR-Alu retroelement insertion in intron 4 of NR5A1, a gene in which loss-of-function variants are an established cause of 46,XY DSD. The insertion segregated among affected family members and was associated with loss-of-expression of alleles in cis, demonstrating a functional impact on NR5A1. This case highlights the power of long-read genome sequencing to detect genomic variants that have previously been intractable to detection by standard short-read genomic testing.


Asunto(s)
Trastorno del Desarrollo Sexual 46,XY , Retroelementos , Humanos , Mutación , Intrones/genética , Retroelementos/genética , Trastorno del Desarrollo Sexual 46,XY/genética , Enfermedades Raras/genética , Desarrollo Sexual , Factor Esteroidogénico 1/genética
5.
Adv Radiat Oncol ; 8(5): 101236, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37408681

RESUMEN

Purpose: Patients with early stage breast cancer (ESBC) are conventionally treated with breast-conserving surgery (BCS) followed by whole-breast external beam radiation therapy (EBRT). The emergence of targeted intraoperative radiation therapy (TARGIT) with Intrabeam has been used as a therapeutic alternative for patients with risk-adapted ESBC. Here we present our radiation therapy toxicities (RTT), postoperative complications (PC), and short-term outcomes of the prospective phase II trial at the McGill University Health Center. Methods and Materials: Patients aged ≥50 years with biopsy-proven hormone receptor-positive, grade 1 or 2, invasive ductal carcinoma of the breast, cT1N0, were eligible for the study. Enrolled patients underwent BCS followed by immediate TARGIT of 20 Gy in 1 fraction. Upon final pathology, patients with low-risk breast cancer (LRBC) received no further EBRT, and those with high-risk breast cancer (HRBC) received further 15 to 16 fractions of whole breast EBRT. HRBC criteria included pathologic tumor size >2 cm, grade 3, positive lympho-vascular invasion, multifocal disease, close margins (<2 mm), or positive nodal disease. Results: A total of 61 patients with ESBC were enrolled in the study; upon final pathology, 40 (65.6%) had LRBC, and 21 (34.4%) had HRBC. The median follow-up was 3.9 years. The most common HRBC criteria were close margins in 66.6% (n = 14) and lymphovascular invasion in 28.6% (n = 6). No grade 4 RTT were observed in either group. The most common PC were seroma and cellulitis for both groups. The rate of locoregional recurrence was 0% in both groups. The overall survival in LRBC was 97.5% and in HRBC 95.2% with no significant differences. Deaths were nonbreast cancer related. Conclusions: In patients with ESBC undergoing BCS, the use of TARGIT shows low rates of RTT and PC complications. Moreover, our short-term outcomes show no significant difference at 3.9 years median follow-up for locoregional recurrence or overall survival between groups of patients receiving TARGIT alone or TARGIT followed by EBRT. Of all patients, 34.4% required further EBRT, most commonly due to close margins.

6.
Genome Med ; 15(1): 34, 2023 05 08.
Artículo en Inglés | MEDLINE | ID: mdl-37158973

RESUMEN

BACKGROUND: Long-read sequencing (LRS) techniques have been very successful in identifying structural variants (SVs). However, the high error rate of LRS made the detection of small variants (substitutions and short indels < 20 bp) more challenging. The introduction of PacBio HiFi sequencing makes LRS also suited for detecting small variation. Here we evaluate the ability of HiFi reads to detect de novo mutations (DNMs) of all types, which are technically challenging variant types and a major cause of sporadic, severe, early-onset disease. METHODS: We sequenced the genomes of eight parent-child trios using high coverage PacBio HiFi LRS (~ 30-fold coverage) and Illumina short-read sequencing (SRS) (~ 50-fold coverage). De novo substitutions, small indels, short tandem repeats (STRs) and SVs were called in both datasets and compared to each other to assess the accuracy of HiFi LRS. In addition, we determined the parent-of-origin of the small DNMs using phasing. RESULTS: We identified a total of 672 and 859 de novo substitutions/indels, 28 and 126 de novo STRs, and 24 and 1 de novo SVs in LRS and SRS respectively. For the small variants, there was a 92 and 85% concordance between the platforms. For the STRs and SVs, the concordance was 3.6 and 0.8%, and 4 and 100% respectively. We successfully validated 27/54 LRS-unique small variants, of which 11 (41%) were confirmed as true de novo events. For the SRS-unique small variants, we validated 42/133 DNMs and 8 (19%) were confirmed as true de novo event. Validation of 18 LRS-unique de novo STR calls confirmed none of the repeat expansions as true DNM. Confirmation of the 23 LRS-unique SVs was possible for 19 candidate SVs of which 10 (52.6%) were true de novo events. Furthermore, we were able to assign 96% of DNMs to their parental allele with LRS data, as opposed to just 20% with SRS data. CONCLUSIONS: HiFi LRS can now produce the most comprehensive variant dataset obtainable by a single technology in a single laboratory, allowing accurate calling of substitutions, indels, STRs and SVs. The accuracy even allows sensitive calling of DNMs on all variant levels, and also allows for phasing, which helps to distinguish true positive from false positive DNMs.


Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Mutación INDEL , Humanos , Alelos , Repeticiones de Microsatélite
7.
SAGE Open Med Case Rep ; 11: 2050313X231161444, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36968985

RESUMEN

Cutaneous T-cell lymphomas are a class of non-Hodgkin lymphomas characterized by the infiltration of malignant T cells into the skin. Their precise pathogenesis remains incompletely understood, but persistent and specific antigen stimulation of skin-homing CD4+ memory T cells by external or internal factors, combined with an inflammatory cytokine-rich tissue microenvironment, may be critical in the development of cutaneous T-cell lymphomas. We present herein a case of primary cutaneous T-cell lymphoma arising in two surgical scars that developed 6 months post-operatively and were successfully treated with external beam radiotherapy. This case highlights the notion that primary cutaneous T-cell lymphoma can develop locally at the site of injury/foreign body within a relatively short time post trauma/surgery. This work contributes to the literature of cutaneous T-cell lymphomas arising after a trauma, surgery, or a foreign body.

8.
Sci Rep ; 12(1): 16945, 2022 10 09.
Artículo en Inglés | MEDLINE | ID: mdl-36210382

RESUMEN

Over the past decade, advances in genetic testing, particularly the advent of next-generation sequencing, have led to a paradigm shift in the diagnosis of molecular diseases and disorders. Despite our present collective ability to interrogate more than 90% of the human genome, portions of the genome have eluded us, resulting in stagnation of diagnostic yield with existing methodologies. Here we show how application of a new technology, long-read sequencing, has the potential to improve molecular diagnostic rates. Whole genome sequencing by long reads was able to cover 98% of next-generation sequencing dead zones, which are areas of the genome that are not interpretable by conventional industry-standard short-read sequencing. Through the ability of long-read sequencing to unambiguously call variants in these regions, we discovered an immunodeficiency due to a variant in IKBKG in a subject who had previously received a negative genome sequencing result. Additionally, we demonstrate the ability of long-read sequencing to detect small variants on par with short-read sequencing, its superior performance in identifying structural variants, and thirdly, its capacity to determine genomic methylation defects in native DNA. Though the latter technical abilities have been demonstrated, we demonstrate the clinical application of this technology to successfully identify multiple types of variants using a single test.


Asunto(s)
Genoma Humano , Secuenciación de Nucleótidos de Alto Rendimiento , Secuencia de Bases , Genómica , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Humanos , Quinasa I-kappa B , Análisis de Secuencia de ADN/métodos
9.
Food Sci Nutr ; 10(10): 3323-3337, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36249973

RESUMEN

Early identification of inadequate intake of nutrients from a person's diet is usually crucial to prevent the development of micronutrient malnutrition. However, there is no single dietary assessment tool for Ethiopia that can assess the nutrient intake of a person from the type of food she or he consumed with a given amount. Therefore, the Calculator for Inadequate Micronutrient Intake (CIMI) application was adapted in consideration of food and nutrition contexts in Ethiopia and validated for its suitability to compute nutrient intake and identify nutrient intake inadequacy. For this, a 24-h recall quantitative dietary data of children aged 12-23 months (n = 781) and lactating mothers (n = 1086) were collected between February 15 and 30, 2017, from rural Genta Afeshum district, Tigray region, Ethiopia. An individual nutrient intake was estimated by calculating using CIMI-Ethiopia and also by NutriSurvey (NS) software for comparison. The average (mean and median) intake of energy and most nutrients and the prevalence of inadequacy calculated by the two software for the children aged 12-23 months and lactating mothers were comparable, except that of the vitamin A. The correlation coefficients for the intake results calculated by CIMI-Ethiopia and NS were between 0.85 and 0.97 for the children and between 0.5 and 0.96 for the lactating mothers' group. Most of the mean intake differences calculated by the two methods were within the acceptable limits, except for the vitamins A, D, and B12 in the Bland-Altman plots. CIMI-Ethiopia is very sensitive to identifying energy, protein, and selected micronutrients inadequacy included in this study, both for the lactating mothers (84.1%-100%) and 12-23-month-old children (77.6%-100%) group. Our results showed that CIMI-Ethiopia estimates the energy and nutrient intake, and can be also used as a screening tool to identify energy, protein, and selected micronutrients inadequacy from an individual woman's and child's diet in rural Tigray, Ethiopia.

10.
Genet Med ; 24(6): 1336-1348, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35305867

RESUMEN

PURPOSE: This study aimed to provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program. METHODS: Extensive analyses of 960 families with suspected genetic disorders included short-read exome sequencing and short-read genome sequencing (srGS); PacBio HiFi long-read genome sequencing (HiFi-GS); variant calling for single nucleotide variants (SNV), structural variant (SV), and repeat variants; and machine-learning variant prioritization. Structured phenotypes, prioritized variants, and pedigrees were stored in PhenoTips database, with data sharing through controlled access the database of Genotypes and Phenotypes. RESULTS: Diagnostic rates ranged from 11% in patients with prior negative genetic testing to 34.5% in naive patients. Incorporating SVs from genome sequencing added up to 13% of new diagnoses in previously unsolved cases. HiFi-GS yielded increased discovery rate with >4-fold more rare coding SVs compared with srGS. Variants and genes of unknown significance remain the most common finding (58% of nondiagnostic cases). CONCLUSION: Computational prioritization is efficient for diagnostic SNVs. Thorough identification of non-SNVs remains challenging and is partly mitigated using HiFi-GS sequencing. Importantly, community research is supported by sharing real-time data to accelerate gene validation and by providing HiFi variant (SNV/SV) resources from >1000 human alleles to facilitate implementation of new sequencing platforms for rare disease diagnoses.


Asunto(s)
Genómica , Enfermedades Raras , Niño , Genoma , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Linaje , Enfermedades Raras/diagnóstico , Enfermedades Raras/genética , Análisis de Secuencia de ADN
11.
J Psychol ; 156(3): 185-199, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35184696

RESUMEN

Self-harming behavior (SHB) represents an important public health issue and is one of the most critical predictors of completed death by suicide. The current study evaluated the incremental contribution of the Interpersonal Theory of Suicide constructs of thwarted belongingness and perceived burdensomeness for the prediction of SHB beyond that associated with having a psychiatric diagnosis. Community adults from two different countries included a Portuguese sample of 414 adults, aged between 18 and 65 years (M = 45.09, SD = 13.11), and predominantly female (79%), and an American sample of 290 adults (198 men, 91 women, 1 unreported) with a mean age of 37.76 years (SD = 10.84) ranging from 20 to 71, who participated online. Results demonstrated mediation effects for perceived burdensomeness in the association of thwarted belongingness with SHB, partial mediation in the Portuguese sample and full mediation in the American sample. Findings also indicated that the interaction between thwarted belongingness and perceived burdensomeness failed to make a statistically significant contribution to the prediction of SHB. The results are discussed within the Interpersonal Theory of Suicide and its relevance for clinical practice.


Asunto(s)
Trastornos Mentales , Conducta Autodestructiva , Suicidio , Adolescente , Adulto , Anciano , Femenino , Humanos , Relaciones Interpersonales , Masculino , Persona de Mediana Edad , Teoría Psicológica , Factores de Riesgo , Ideación Suicida , Suicidio/psicología , Adulto Joven
12.
Radiother Oncol ; 162: 156-161, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-34273468

RESUMEN

BACKGROUND AND PURPOSE: Breast cancer locoregional (LR) radiation in the elderly requires careful consideration between the benefits of aggressive treatment and its potential toll on these patients. Extreme weekly LR hypofractionated radiation (HFRT), delivering >5 Gy per fraction, may be better suited in such a population. It represents a good compromise between RT omission and exhaustive daily radiation. This study aims to report the local and LR control rate as well as the acute and long-term side effects of the elderly patients treated with HFRT in our institution, and to compare these results to those from the literature. MATERIALS AND METHODS: We conducted a retrospective study by reviewing medical records of elderly patients with breast cancer treated with adjuvant once-weekly LR HFRT between 2011 and 2020. Fifty patients presenting with primary non-metastatic node-positive breast tumors were included. Treatment outcomes including local/LR control and overall survival were reported. Early and late toxicity profiles were also assessed. RESULTS: After a median follow-up of 4.8 years, only one local recurrence in the chest wall occurred and there was no regional recurrence. The distant metastatic rate was 6%. The long-term recurrence-free survival rate was 80% at 5 years. The cause specific survival rate was 90% at 5 years. The overall survival rate was 69.4% and 55.5% at 3 and 5 years, respectively. There were 44 (88%) patients with Grade 1 or 2 early toxicity. There was no Grade 3 or higher acute toxicity registered. Late toxicity was mainly Grade 1 or 2 subcutaneous fibrosis, lymphoedema, and neuropathy except for one patient with Grade 3 fibrosis. CONCLUSION: Extreme LR HFRT is well tolerated with good outcomes and is a good alternative for elderly and frail patients. Our results confirm the efficacy and safety of such a regimen. Further randomized trials assessing both oncologic outcome and toxicity profile are justified.


Asunto(s)
Neoplasias de la Mama , Anciano , Mama , Neoplasias de la Mama/radioterapia , Femenino , Humanos , Recurrencia Local de Neoplasia , Hipofraccionamiento de la Dosis de Radiación , Estudios Retrospectivos
13.
Omega (Westport) ; 84(1): 194-211, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31645195

RESUMEN

Across two countries and two languages, this research examined the multidimensional associations of suicide behaviors (i.e., life-time attempts, life-time communication of intent to others, life-time self-harming, life-time suicide notes, and current suicide ideation) and empirically relevant psychological risk factors (i.e., different facets of mental pain, perceived burdensomeness, thwarted belongingness, and acquired capability), controlling for depressive symptoms. For the Portuguese sample, two underlying dimensions emerged: an ideation dimension and a behavioral dimension, and for the Canadian sample, three dimensions emerged: an ideation dimension and two behavioral dimensions that can be viewed as a splitting of the Portuguese second dimension. Results highlight possible cultural differences between the two countries and that suicide behaviors should be viewed as a multidimensional phenomenon not as a one-dimensional continuum.


Asunto(s)
Relaciones Interpersonales , Ideación Suicida , Canadá , Humanos , Factores de Riesgo , Encuestas y Cuestionarios
14.
J Clin Psychol ; 77(3): 722-731, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-32880952

RESUMEN

OBJECTIVES: The aim of this study was to evaluate the potential mediating effects of depression and psychache (i.e., extreme mental pain) on the relationship between parental invalidation and nonsuicidal self-injury (NSSI) in young adults. METHOD: A sample of 2474 university students responded to previously validated measures of current NSSI, childhood parental invalidation, depression, and psychache. RESULTS: Using a parallel mediation model, path analysis using structural equation modeling demonstrated full mediation by depression and psychache of the link between parental invalidation and NSSI. CONCLUSIONS: Findings suggest that the association between invalidating childhood environments and NSSI has the potential to be mitigated by addressing issues of depression and psychache.


Asunto(s)
Conducta Autodestructiva , Universidades , Niño , Depresión/epidemiología , Humanos , Dolor , Conducta Autodestructiva/epidemiología , Estudiantes , Adulto Joven
15.
Suicide Life Threat Behav ; 50(3): 668-678, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32052885

RESUMEN

OBJECTIVES: Unlike many investigations that focus on suicide ideation rather than suicidal behavior, the present research evaluates the merit and relative efficacy of psychache (i.e., unbearable mental pain) for predicting self-reported suicide attempts among university students who are starting university. METHOD: A sample of 516 elevated-risk undergraduates was assessed during the first three weeks of starting university and, again, 10 weeks later. RESULTS: Psychache and depression, but not hopelessness, could predict change in suicide attempter status. When measures of psychache, depression, and hopelessness were considered simultaneously, only psychache provided significant, unique predictive power. CONCLUSIONS: Findings are interpreted as supporting Shneidman's model whereby psychache is seen as the cause of suicide.


Asunto(s)
Intento de Suicidio , Universidades , Humanos , Dolor , Estudiantes , Ideación Suicida
16.
Int J Psychol ; 55(6): 926-935, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32012262

RESUMEN

Across two countries and two languages, this research examined the multidimensional associations between suicidality (e.g., past ideation/attempts, communication of intent) and empirically important psychological risk factors (e.g., mental pain, perceived burdensomeness, thwarted belongingness). For samples of 228 Canadian and 331 Portuguese university undergraduates, four dimensions emerged in each sample with two of these, intrapersonal and interpersonal, demonstrating strong replicability across countries and languages. It was concluded that suicidality is a phenomenon that demonstrates some multidimensional similarities across cultures.


Asunto(s)
Suicidio/psicología , Adolescente , Adulto , Femenino , Humanos , Lenguaje , Masculino , Factores de Riesgo , Adulto Joven
17.
PLoS One ; 15(1): e0226340, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31940362

RESUMEN

Structural variation (SV) is typically defined as variation within the human genome that exceeds 50 base pairs (bp). SV may be copy number neutral or it may involve duplications, deletions, and complex rearrangements. Recent studies have shown SV to be associated with many human diseases. However, studies of SV have been challenging due to technological constraints. With the advent of third generation (long-read) sequencing technology, exploration of longer stretches of DNA not easily examined previously has been made possible. In the present study, we utilized third generation (long-read) sequencing techniques to examine SV in the EGFR landscape of four haplotypes derived from two human samples. We analyzed the EGFR gene and its landscape (+/- 500,000 base pairs) using this approach and were able to identify a region of non-coding DNA with over 90% similarity to the most common activating EGFR mutation in non-small cell lung cancer. Based on previously published Alu-element genome instability algorithms, we propose a molecular mechanism to explain how this non-coding region of DNA may be interacting with and impacting the stability of the EGFR gene and potentially generating this cancer-driver gene. By these techniques, we were also able to identify previously hidden structural variation in the four haplotypes and in the human reference genome (hg38). We applied previously published algorithms to compare the relative stabilities of these five different EGFR gene landscape haplotypes to estimate their relative potentials to generate the EGFR exon 19, 15 bp canonical deletion. To our knowledge, the present study is the first to use the differences in genomic architecture between targeted cancer-linked phased haplotypes to estimate their relative potentials to form a common cancer-linked driver mutation.


Asunto(s)
Genes erbB-1/genética , Variación Genética , Genoma Humano/genética , Inestabilidad Genómica , Secuenciación de Nucleótidos de Alto Rendimiento , Carcinoma de Pulmón de Células no Pequeñas/genética , Simulación por Computador , Haplotipos , Humanos , Neoplasias Pulmonares/genética , Análisis de Secuencia de ADN
18.
Phys Med ; 67: 100-106, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31704390

RESUMEN

PURPOSE: To compare clinical setup using ultrasound (U/S)-delineated target versus computed tomography (CT) virtual simulation using CT-outlined target in breast electron boost. To describe a methodology for electron virtual simulation and collision testing with the treatment planning system (TPS). METHODS: The two techniques were compared in a prospective study on 12 patients, who were treated using a clinical setup. Target definition was performed by both U/S and CT imaging. The U/S-based target was made visible on CT images by placing a radio-opaque wire on U/S skin markings. The dose distribution of the clinical setup was reproduced in the TPS using the actual electron patient treatment parameters. A CT-based TPS virtual simulation/dose optimization was compared to the clinical setup technique. RESULTS: Mean beam aperture was larger by 16.3 cm2 (p = 0.011) for U/S compared to CT-outlined target. Target mean depth difference (CT minus U/S) was 0.03 cm (p = 0.875). Target coverage at depth was adequate in all cases with CT-based simulation while under/overcovering the target at depth by more than 5 mm in 2 out of 12 cases with clinical setup. Mean target V90% was 98.5% (CT-based simulation) and 84.4% (clinical setup). Ipsilateral lung/breast were better spared with CT-based simulation. To date, the methodology for CT virtual simulation was applied on 152 patients and collision was avoided in all cases. CONCLUSIONS: CT-based simulation and target delineation allows for improved definition of the en-face electron field with less amount of normal tissue irradiated while including the entire target with an adequate margin and optimal electron energy.


Asunto(s)
Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/radioterapia , Electrones/uso terapéutico , Planificación de la Radioterapia Asistida por Computador/métodos , Tomografía Computarizada por Rayos X , Humanos , Ultrasonografía , Interfaz Usuario-Computador
19.
Saudi J Biol Sci ; 26(7): 1724-1730, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31762650

RESUMEN

Vitamin D deficiency is a pandemic problem. Non-animal source of vitamin D is obtained from edible mushrooms. Oyster mushroom (Pleurotus ostreatus) was sliced into the size of 1 cm3, 4 cm3 and 9 cm3, and treated with the sun as a natural resource of UVB under subtropical settings in Ethiopia. The content of vitamin D was measured by using high-performance liquid chromatography (HPLC). After sun treatment, there was a significant increment in the content of vitamin D2 from nil to 67.4 ±â€¯28.0 µg/g dry weight (DW). Based on the results of the overall pairwise comparisons, 1 cm3 size of slice group had the highest content of vitamin D2. Duration of sun exposure, sizes of mushroom slices and moisture content were identified as determining factors for vitamin D2 synthesis. Exposing slices of oyster mushroom to the sunlight for <30 min provides the amount that satisfies the current recommended dietary allowance (RDA) of vitamin D without any visible change in color and texture. Thus, sun treatment of oyster mushroom is an effective and economically cheap strategy in the fight against vitamin D deficiency.

20.
Gigascience ; 8(10)2019 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-31609423

RESUMEN

BACKGROUND: A high-quality reference genome is an essential tool for applied and basic research on arthropods. Long-read sequencing technologies may be used to generate more complete and contiguous genome assemblies than alternate technologies; however, long-read methods have historically had greater input DNA requirements and higher costs than next-generation sequencing, which are barriers to their use on many samples. Here, we present a 2.3 Gb de novo genome assembly of a field-collected adult female spotted lanternfly (Lycorma delicatula) using a single Pacific Biosciences SMRT Cell. The spotted lanternfly is an invasive species recently discovered in the northeastern United States that threatens to damage economically important crop plants in the region. RESULTS: The DNA from 1 individual was used to make 1 standard, size-selected library with an average DNA fragment size of ∼20 kb. The library was run on 1 Sequel II SMRT Cell 8M, generating a total of 132 Gb of long-read sequences, of which 82 Gb were from unique library molecules, representing ∼36× coverage of the genome. The assembly had high contiguity (contig N50 length = 1.5 Mb), completeness, and sequence level accuracy as estimated by conserved gene set analysis (96.8% of conserved genes both complete and without frame shift errors). Furthermore, it was possible to segregate more than half of the diploid genome into the 2 separate haplotypes. The assembly also recovered 2 microbial symbiont genomes known to be associated with L. delicatula, each microbial genome being assembled into a single contig. CONCLUSIONS: We demonstrate that field-collected arthropods can be used for the rapid generation of high-quality genome assemblies, an attractive approach for projects on emerging invasive species, disease vectors, or conservation efforts of endangered species.


Asunto(s)
Dípteros/genética , Genoma de los Insectos , Genómica/métodos , Animales , Femenino , Biblioteca de Genes , Especies Introducidas , Análisis de Secuencia de ADN
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