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1.
Med Sci Sports Exerc ; 56(10): 2076-2091, 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-39277776

RESUMEN

ABSTRACT: Excessive body weight and adiposity contribute to many adverse health concerns. The American College of Sports Medicine (ACSM) recognizes that the condition of excess body weight and adiposity is complex, with numerous factors warranting consideration. The ACSM published a position stand on this topic in 2001 with an update in 2009, and a consensus paper on the role of physical activity in the prevention of weight gain in 2019. This current consensus paper serves as an additional update to those prior ACSM position and consensus papers. The ACSM supports the inclusion of physical activity in medical treatments (pharmacotherapy, metabolic and bariatric surgery) of excess weight and adiposity, as deemed to be medically appropriate, and provides perspectives on physical activity within these therapies. For weight loss and prevention of weight gain, the effects may be most prevalent when physical activity is progressed in an appropriate manner to at least 150 min·wk-1 of moderate-intensity physical activity, and these benefits occur in a dose-response manner. High-intensity interval training does not appear to be superior to moderate-to-vigorous physical activity for body weight regulation, and light-intensity physical activity may also be an alternative approach provided it is of sufficient energy expenditure. Evidence does not support that any one single mode of physical activity is superior to other modes for the prevention of weight gain or weight loss, and to elicit holistic health benefits beyond the effects on body weight and adiposity, multimodal physical activity should be recommended. The interaction between energy expenditure and energy intake is complex, and the effects of exercise on the control of appetite are variable between individuals. Physical activity interventions should be inclusive and tailored for sex, self-identified gender, race, ethnicity, socioeconomic status, age, and developmental level. Intervention approaches can also include different forms, channels, and methods to support physical activity.


Asunto(s)
Adiposidad , Ejercicio Físico , Humanos , Adiposidad/fisiología , Ejercicio Físico/fisiología , Pérdida de Peso/fisiología , Aumento de Peso , Adulto , Obesidad/prevención & control , Metabolismo Energético/fisiología , Sobrepeso/prevención & control , Sobrepeso/terapia , Consenso , Medicina Deportiva , Cirugía Bariátrica
2.
J Clin Microbiol ; 62(8): e0026724, 2024 Aug 14.
Artículo en Inglés | MEDLINE | ID: mdl-39046255

RESUMEN

Guidelines recommend monitoring of Epstein-Barr virus (EBV) and BK virus (BKV) in solid organ and hematopoietic stem cell transplant patients. The majority of quantitative DNA testing for EBV and BKV employs unstandardized individual laboratory-developed testing solutions (LDTs), with implications for accuracy, reproducibility, and comparability between laboratories. The performance of the cobas EBV and cobas BKV assays was assessed across five laboratories, using the World Health Organization International Standards (WHO IS) for EBV and BKV, and the National Institute of Standards and Technology Quantitative Standard for BKV, and results were compared with the LDTs in use at the time. Methods were also compared using locally sourced clinical specimens. Variation was high when laboratories reported EBV or BKV DNA values using LDTs, where quantitative values were observed to differ by up to 1.5 log10 unit/mL between sites. Conversely, results from the cobas EBV and cobas BKV assays were accurate and reproducible across sites and on different testing days. Adjustment of LDTs using the international standards led to closer alignment between the assays; however, day-to-day reproducibility of LDTs remained high. In addition, BKV continued to show bias, indicating challenges with the commutability of the BKV International Standard. The cobas EBV and cobas BKV assays are automated, aligned to the WHO IS, and have the potential to reduce the variability in viral load testing introduced by differences in LDTs. Standardization of reporting values may eventually allow different centers to compare data to allow clinical decision thresholds to be established supporting improvements in patient management.IMPORTANCEThe application of center-specific cut-offs for clinical decisions and the variability of LDTs often hinder interpretation; thus, the findings reported here support the need for standardization in the field of post-transplant monitoring of EBV and BKV to improve patient management. Alongside the choice of assay, it is also important to consider which standard to use when deciding upon a testing methodology. This is a call to action for standardization, as treatment for EBV and BKV is driven by viral load test results, and the more accurate and comparable the test results are across institutions, the more informed and better the treatment decisions can be.


Asunto(s)
Virus BK , Infecciones por Virus de Epstein-Barr , Herpesvirus Humano 4 , Carga Viral , Humanos , Virus BK/aislamiento & purificación , Virus BK/genética , Herpesvirus Humano 4/genética , Herpesvirus Humano 4/aislamiento & purificación , Carga Viral/normas , Carga Viral/métodos , Reproducibilidad de los Resultados , Infecciones por Virus de Epstein-Barr/diagnóstico , Infecciones por Virus de Epstein-Barr/virología , Infecciones por Polyomavirus/diagnóstico , Infecciones por Polyomavirus/virología , ADN Viral/genética , ADN Viral/análisis , Técnicas de Diagnóstico Molecular/normas , Técnicas de Diagnóstico Molecular/métodos , Infecciones Tumorales por Virus/diagnóstico , Infecciones Tumorales por Virus/virología
3.
Orthop J Sports Med ; 12(6): 23259671241240751, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38863506

RESUMEN

Background: Lower socioeconomic status and public insurance lead to a longer delay to surgery and a higher likelihood of concomitant pathology before undergoing anterior cruciate ligament reconstruction (ACLR). However, few studies have examined the influence of community deprivation on ACLR timing and outcomes. Purpose/Hypothesis: The primary aim of this study was to define the effect of the area deprivation index (ADI) and insurance classification on access to orthopaedic care after an ACL rupture, and the secondary aim was to determine whether these variables were associated with a second ACL injury after primary ACLR. It was hypothesized that patients with a greater national ADI percentile and Medicaid insurance would experience longer delays to care and an increased risk of reinjury after ACLR. Study Design: Cohort study; Level of evidence, 3. Methods: A retrospective study was performed to evaluate patients undergoing primary ACLR between 2016 and 2019. The national ADI percentile was obtained utilizing the Neighborhood Atlas website. The relationship between national ADI percentile and care characteristics (eg, time to specialized care) was investigated using the Spearman rho correlation coefficient (r). The association between patient and care characteristics and second ACL injury after the index procedure (ie, graft rerupture or contralateral ACL rupture) was investigated using binary logistic regression. Results: A total of 197 patients met the inclusion criteria. Longer times from injury to surgery (r = 0.238; P < .001) and from specialized care to surgery (r = 0.217; P = .002) were associated with a greater national ADI percentile. The second injury group reported significantly greater national ADI (P = .026) and included a greater percentage of patients with Medicaid insurance (31.3%) compared with the no second injury group. Patients experienced 5.1% greater odds of a second ACL injury for each additional month between evaluation and surgery. Conclusion: Greater national ADI percentile and Medicaid insurance status were associated with adverse ACLR timing and outcomes. Patients with a greater national ADI percentile took significantly longer to obtain surgery after ACL injury. Those who sustained a second ACL injury after ACLR had an overall higher mean national ADI percentile and included a greater proportion of patients with Medicaid compared with those who did not sustain a second ACL injury. Future studies should critically investigate the underlying factors of these associations to reach equity in orthopaedic care.

4.
Clin Obes ; 14(3): e12659, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38602039

RESUMEN

Nearly 90 clinicians and researchers from around the world attended the first IMPROVE 2022 International Meeting on Pathway-Related Obesity. Delegates attended in person or online from across Europe, Argentina and Israel to hear the latest scientific and clinical developments in hyperphagia and severe, early-onset obesity, and set out a vision of excellence for the future for improving the diagnosis, treatment, and care of patients with melanocortin-4 receptor (MC4R) pathway-related obesity. The meeting co-chair Peter Kühnen, Charité Universitätsmedizin Berlin, Germany, indicated that change was needed with the rapidly increasing prevalence of obesity and the associated complications to improve the understanding of the underlying mechanisms and acknowledge that monogenic forms of obesity can play an important role, providing insights that can be applied to a wider group of patients with obesity. World-leading experts presented the latest research and led discussions on the underlying science of obesity, diagnosis (including clinical and genetic approaches such as the role of defective MC4R signalling), and emerging clinical data and research with targeted pharmacological approaches. The aim of the meeting was to agree on the questions that needed to be addressed in future research and to ensure that optimised diagnostic work-up was used with new genetic testing tools becoming available. This should aid the planning of new evidence-based treatment strategies for the future, as explained by co-chair Martin Wabitsch, Ulm University Medical Center, Germany.


Asunto(s)
Obesidad , Receptor de Melanocortina Tipo 4 , Humanos , Hiperfagia , Obesidad/terapia , Receptor de Melanocortina Tipo 4/genética , Receptor de Melanocortina Tipo 4/metabolismo , Transducción de Señal
5.
Diabetes Obes Metab ; 26(6): 2439-2445, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38558524

RESUMEN

AIM: To examine the effect of interrupting prolonged sitting with short, frequent, light-intensity activity on postprandial cardiovascular markers in people with type 1 diabetes (T1D). MATERIALS AND METHODS: In a randomized crossover trial, 32 adults with T1D (mean ± SD age 28 ± 5 years, glycated haemoglobin 67.9 ± 12.6 mmol/mol, 17 women) completed two 7-h laboratory visits separated by >7 days. Participants either remained seated for 7 h (SIT) or interrupted sitting with 3-min bouts of self-paced walking at 30-min intervals commencing 1 h after each meal (SIT-LESS). Physical activity, insulin regimen, experimental start times, and meal consumption were standardized during each arm. Plasma levels of interleukin (IL)-1ß, tumour necrosis factor (TNF)-α, plasminogen activator inhibitor (PAI)-1 and fibrinogen were sampled at baseline, 3.5 and 7 h, and assessed for within- and between-group effects using a repeated measures ANOVA. The estimated glucose disposal rate was used to determine the insulin resistance status. RESULTS: Vascular-inflammatory parameters were comparable between SIT and SIT-LESS at baseline (p > .05). TNF-α, IL-1ß, PAI-1 and fibrinogen increased over time under SIT, whereas these rises were attenuated under SIT-LESS (p < .001). Specifically, over the 7 h under SIT, postprandial increases were detected in TNF-α, IL-1ß, PAI-1 and fibrinogen (+67%, +49%, +49% and +62%, respectively; p < .001 for all). Conversely, the SIT-LESS group showed no change in IL-1ß (-9%; p > .50), whereas reductions were observed in TNF-α, PAI-1 and fibrinogen (-22%, -42% and -44%, respectively; p < .001 for all). The intervention showed enhanced effects in insulin-resistant individuals with T1D. CONCLUSIONS: Interrupting prolonged sitting with light-intensity activity ameliorates postprandial increases in vascular-inflammatory markers in T1D. TRIAL REGISTRATION: The trial was prospectively registered (ISRCTN13641847).


Asunto(s)
Biomarcadores , Estudios Cruzados , Diabetes Mellitus Tipo 1 , Inhibidor 1 de Activador Plasminogénico , Periodo Posprandial , Caminata , Humanos , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/terapia , Diabetes Mellitus Tipo 1/fisiopatología , Femenino , Periodo Posprandial/fisiología , Masculino , Adulto , Caminata/fisiología , Biomarcadores/sangre , Inhibidor 1 de Activador Plasminogénico/sangre , Factor de Necrosis Tumoral alfa/sangre , Interleucina-1beta/sangre , Fibrinógeno/metabolismo , Fibrinógeno/análisis , Adulto Joven , Resistencia a la Insulina , Conducta Sedentaria , Inflamación/sangre , Glucemia/metabolismo , Glucemia/análisis
6.
Diagn Pathol ; 19(1): 3, 2024 Jan 03.
Artículo en Inglés | MEDLINE | ID: mdl-38172961

RESUMEN

We previously described a series of cases which characterize a distinct group of primary ovarian placental site trophoblastic tumor (PSTT) and epithelioid trophoblastic tumor (ETT) as a non-gestational set consistent with germ cell type/origin. Here we report a new case of ovarian non-gestational PSTT. The patient was a 13 year-old young female admitted for a spontaneous pneumothorax of the left lung. The pathology of lung wedge excision specimen demonstrated metastatic PSTT and ovarian biopsy showed atypical intermediate trophoblastic proliferation which was found to be PSTT in the subsequent salpingo-oophorectomy specimen. In the ovary, the tumor was composed of singly dispersed or small clusters of predominantly mononuclear cells and rare multinucleated cells extensively infiltrating the ovarian parenchyma, tubal mucosa, and paraovarian/paratubal soft tissue. A minor component of mature cystic teratoma (less than 5% of total tumor volume) was present. Immunohistochemically, the neoplastic cells of main tumor were diffusely immunoreactive for hPL, Gata3 and AE1/AE3, and had only rare hCG-positive or p63-positive cells. The morphology and immunohistochemical results support a PSTT. Molecular genotyping revealed an identical genotype pattern between the normal lung tissue and the metastatic PSTT, indicating its non-gestational nature of germ cell type/origin. This case represents the first case of such tumor with distant (lung) metastasis. This case also provides further evidence to support our recommendation that primary ovarian non-gestational intermediate trophoblastic tumors of germ cell type/origin, including PSTT and ETT, should be formally recognized in classification systems.


Asunto(s)
Enfermedad Trofoblástica Gestacional , Neoplasias Pulmonares , Neoplasias Trofoblásticas , Tumor Trofoblástico Localizado en la Placenta , Neoplasias Uterinas , Femenino , Humanos , Embarazo , Adolescente , Tumor Trofoblástico Localizado en la Placenta/química , Tumor Trofoblástico Localizado en la Placenta/patología , Tumor Trofoblástico Localizado en la Placenta/cirugía , Ovario/patología , Placenta/patología , Neoplasias Trofoblásticas/química , Neoplasias Trofoblásticas/patología , Neoplasias Trofoblásticas/cirugía , Enfermedad Trofoblástica Gestacional/patología , Neoplasias Uterinas/patología
7.
Am J Surg Pathol ; 46(12): 1611-1622, 2022 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-36069815

RESUMEN

Human papillomavirus (HPV)-independent primary endometrial squamous cell carcinoma (PESCC) is a rare but aggressive subtype of endometrial carcinoma for which little is known about the genomic characteristics. Traditional criteria have restricted the diagnosis of PESCC to cases without any cervical involvement. However, given that modern ancillary techniques can detect HPV and characteristic genetic alterations that should identify the more common mimics in the differential diagnosis, including endometrial endometrioid carcinoma with extensive squamous differentiation and HPV-associated primary cervical squamous cell carcinoma, those criteria may benefit from revision. To further characterize PESCC, we identified 5 cases of pure squamous cell carcinoma dominantly involving the endometrium that had the potential to be PESCC: 1 case involving only the endometrium and 4 cases with some involvement of the cervix. Clinicopathologic features were assessed and immunohistochemical analysis (p16, estrogen receptor, progesterone receptor, and p53), HPV RNA in situ hybridization (high-risk and low-risk cocktails and targeted probes for 16 and 18), and molecular studies were performed. All tumors showed aberrant/mutation-type p53 expression, were negative for estrogen receptor, progesterone receptor, and p16, and had no detectable HPV. Per whole-exome sequencing, 4 of the 5 tumors demonstrated comutations in TP53 and CDKN2A (p16). Four patients died of disease within 20 months (range, 1 to 20 mo; mean, 9 mo), and 1 patient had no evidence of disease at 38 months. PESCC represents a unique, clinically aggressive subtype of endometrial cancer with TP53 and CDKN2A comutations. This characteristic profile, which is similar to HPV-independent squamous cell carcinoma of the vulva, is distinct from endometrioid carcinoma with extensive squamous differentiation and HPV-associated primary cervical squamous cell carcinoma and can be used to distinguish PESCC from those mimics even when cervical involvement is present. Diagnostic criteria for PESCC should be relaxed to allow for cervical involvement when other pathologic features are consistent with, and ancillary techniques are supportive of classification as such.


Asunto(s)
Alphapapillomavirus , Carcinoma Endometrioide , Carcinoma de Células Escamosas , Neoplasias Endometriales , Infecciones por Papillomavirus , Neoplasias del Cuello Uterino , Femenino , Humanos , Papillomaviridae/genética , Carcinoma Endometrioide/diagnóstico , Carcinoma Endometrioide/genética , Carcinoma Endometrioide/patología , Receptores de Progesterona/metabolismo , Infecciones por Papillomavirus/complicaciones , Infecciones por Papillomavirus/diagnóstico , Infecciones por Papillomavirus/metabolismo , Alphapapillomavirus/metabolismo , Proteína p53 Supresora de Tumor/genética , Proteína p53 Supresora de Tumor/metabolismo , Inmunohistoquímica , Neoplasias Endometriales/metabolismo , Carcinoma de Células Escamosas/patología , Neoplasias del Cuello Uterino/diagnóstico , Neoplasias del Cuello Uterino/genética , Neoplasias del Cuello Uterino/patología , Estrógenos , Inhibidor p16 de la Quinasa Dependiente de Ciclina/análisis
8.
Mol Genet Genomic Med ; 10(9): e2005, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35775118

RESUMEN

BACKGROUND: Ovarian sex cord-stromal tumors (OSCTs) are rare ovarian tumors that can develop from sex cord, stromal cells, or both. OSCTs can be benign or malignant. Bilateral and/or unilateral ovarian fibromas, a type of OSCT of the stromal cells, have been reported in individuals diagnosed with nevoid basal cell carcinoma syndrome (NBCCS). Calcified ovarian fibromas have been reported in 15-25% of individuals diagnosed with NBCCS while 75% of those cases occur bilaterally. The average age at diagnosis of OSCT/ovarian fibromas in patients with NBCSS is in the second to third decade compared with age 50 in the general population. Ovarian tumors are rare in pediatric populations. METHODS: The patient is a 5-year-old female diagnosed with bilateral ovarian fibromas at age 4. Multigene panel for the patient and subsequent targeted molecular evaluation of parents were completed. Histological evaluations on the surgically resected ovaries were performed for microscopic characterization of fibromas. RESULTS: Germline testing identified de novo heterozygous novel likely pathogenic variants in PTCH1 gene, exon 12 deletion, and an SMARCA4 splicing variant c.2002-1G > A. Microscopic examination of bilateral tumors was consistent with an ovarian fibroma. CONCLUSIONS: To our knowledge, this is the first report of bilateral benign ovarian fibroma in a child with a diagnosis of nevoid basal cell carcinoma syndrome (NBCCS) with a potential predisposition to Rhabdoid Tumor Predisposition Syndrome (RTPS).


Asunto(s)
Síndrome del Nevo Basocelular , Fibroma , Neoplasias Ováricas , Síndrome del Nevo Basocelular/genética , Niño , Preescolar , ADN Helicasas/genética , Femenino , Fibroma/complicaciones , Fibroma/diagnóstico , Fibroma/genética , Células Germinativas , Humanos , Persona de Mediana Edad , Proteínas Nucleares/genética , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/genética , Factores de Transcripción/genética
9.
Br J Nutr ; : 1-28, 2022 Mar 07.
Artículo en Inglés | MEDLINE | ID: mdl-35249565

RESUMEN

This secondary analysis examined the influence of changes in physical activity (PA), sedentary time and energy expenditure (EE) during dietary energy restriction on the rate of weight loss (WL) and 1-year follow-up weight change in women with overweight/obesity.Measurements of body weight and composition (air-displacement plethysmography), resting metabolic rate (indirect calorimetry), total daily (TDEE) and activity EE (AEE), minutes of PA and sedentary time (PA monitor) were taken at baseline, after 2 weeks, after ≥5% WL or 12 weeks of continuous (25% daily energy deficit) or intermittent (75% daily energy deficit alternated with ad libitum day) energy restriction, and at 1-year post-WL. The rate of WL was calculated as total %WL/number of dieting weeks. Data from both groups were combined for analyses.Thirty-seven participants (age=35±10y; BMI=29.1±2.3kg/m2) completed the intervention (WL=-5.9±1.6%) and 18 returned at 1-year post-WL (weight change=+4.5±5.2%). Changes in sedentary time at 2 weeks were associated with the rate of WL during energy restriction (r=-0.38; p=0.03). Changes in total (r=0.54; p<0.01), light (r=0.43; p=0.01) and moderate-to-vigorous PA (r=0.55; p<0.01), sedentary time (r=-0.52; p<0.01), steps per day (r=0.39; p=0.02), TDEE (r=0.46; p<0.01) and AEE (r=0.51; p<0.01) during energy restriction were associated with the rate of WL. Changes in total (r=-0.50; p=0.04) and moderate-to-vigorous PA (r=-0.61; p=0.01) between post-WL and follow-up were associated with 1-year weight change (r=-0.51; p=0.04).These findings highlight that PA and sedentary time could act as modifiable behavioural targets to promote better weight outcomes during dietary energy restriction and/or weight maintenance.

11.
Am J Surg Pathol ; 46(2): 258-267, 2022 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-34799484

RESUMEN

Bizarre (atypical/symplastic) cells have been described in various gynecologic normal tissues and benign neoplasms. This type of bizarre cytologic change is usually an incidental finding and is regarded as a benign process. We describe 17 cases of bizarre chorionic-type trophoblast in second-trimester and third-trimester placentas that created concern for an underlying/undersampled or incipient intraplacental trophoblastic neoplasm, predominantly found in intervillous trophoblastic islands (11/17), placental septae (6/17), chorionic plate (1/17), and/or the chorion layer of fetal membranes (2/17). The bizarre trophoblastic cells exhibited sheet-like or nested architecture, had a multifocal/patchy distribution, and/or were present as individual cells within hyaline stroma; they were characterized by large nuclei with smudgy chromatin and occasional intranuclear pseudoinclusions. The degree of atypia was classified as mild (0/17), moderate (3/17), or severe (14/17). Mitotic figures and necrosis were not identified. A dual immunohistochemical stain for trophoblast (hydroxyl-delta-5-steroid dehydrogenase) and a proliferation marker (Ki-67), performed in 15 cases, demonstrated 0% to very low proliferative activity within the bizarre trophoblast (0% to 2% [10/15], 3% to 8% [5/15]). Immunohistochemical stains for fumarate hydratase showed intact/retained expression in the bizarre cells in 7 of 7 cases. Clinical follow-up ranged from 1 to 45 months, and all patients were alive and well without subsequent evidence of a gestational trophoblastic or other neoplasms. We conclude that bizarre chorionic-type trophoblast in second-trimester or third-trimester placentas have the potential to mimic an intraplacental trophoblastic neoplasm but are likely a benign degenerative change. This study expands the spectrum of bizarre cells that occur in the gynecologic tract.


Asunto(s)
Enfermedades Placentarias/patología , Neoplasias Trofoblásticas/patología , Trofoblastos/patología , Neoplasias Uterinas/patología , Adolescente , Adulto , Biopsia , Diagnóstico Diferencial , Femenino , Fumarato Hidratasa/análisis , Humanos , Inmunohistoquímica , Antígeno Ki-67/análisis , Persona de Mediana Edad , Complejos Multienzimáticos/análisis , Enfermedades Placentarias/metabolismo , Valor Predictivo de las Pruebas , Embarazo , Segundo Trimestre del Embarazo , Tercer Trimestre del Embarazo , Progesterona Reductasa/análisis , Esteroide Isomerasas/análisis , Neoplasias Trofoblásticas/química , Trofoblastos/química , Estados Unidos , Neoplasias Uterinas/química , Adulto Joven
12.
Gynecol Oncol Rep ; 38: 100877, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34926758

RESUMEN

•A subset of patients with uterine carcinosarcoma will have ER/PR positive disease.•Hormone receptor expression may serve as a therapeutic target in high-grade endometrial tumors.•Hormonal therapy and SBRT may have benefit in the management of recurrent uterine carcinosarcoma.

14.
G3 (Bethesda) ; 11(11)2021 10 19.
Artículo en Inglés | MEDLINE | ID: mdl-34510200

RESUMEN

Polyploidy is considered a driving force in plant evolution and domestication. Although in the genus Arachis, several diploid species were traditionally cultivated for their seeds, only the allotetraploid peanut Arachis hypogaea became the successful, widely spread legume crop. This suggests that polyploidy has given selective advantage for domestication of peanut. Here, we study induced allotetraploid (neopolyploid) lineages obtained from crosses between the peanut's progenitor species, Arachis ipaënsis and Arachis duranensis, at earlier and later generations. We observed plant morphology, seed dimensions, and genome structure using cytogenetics (FISH and GISH) and SNP genotyping. The neopolyploid lineages show more variable fertility and seed morphology than their progenitors and cultivated peanut. They also showed sexual and somatic genome instability, evidenced by changes of number of detectable 45S rDNA sites, and extensive homoeologous recombination indicated by mosaic patterns of chromosomes and changes in dosage of SNP alleles derived from the diploid species. Genome instability was not randomly distributed across the genome: the more syntenic chromosomes, the higher homoeologous recombination. Instability levels are higher than observed on peanut lines, therefore it is likely that more unstable lines tend to perish. We conclude that early stages of the origin and domestication of the allotetraploid peanut involved two genetic bottlenecks: the first, common to most allotetraploids, is composed of the rare hybridization and polyploidization events, followed by sexual reproductive isolation from its wild diploid relatives. Here, we suggest a second bottleneck: the survival of the only very few lineages that had stronger mechanisms for limiting genomic instability.


Asunto(s)
Arachis , Fabaceae , Arachis/genética , Fabaceae/genética , Genoma de Planta , Humanos , Poliploidía , Sintenía
16.
Acta Cytol ; 64(3): 208-215, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31362293

RESUMEN

INTRODUCTION: Pulmonary adenocarcinoma is a major cause of mortality worldwide. The majority of patients present with advanced stage disease, and minimally invasive procedures are desirable for diagnosis and treatment plans. Herein, we report our experience with percutaneous/transthoracic needle aspiration (TT-NA) in the cytologic diagnosis of pulmonary adenocarcinoma. MATERIAL AND METHODS: After institutional review board approval, the cytopathology electronic data system was searched for all consecutive TT-NA of the lung masses from January 2011 to November 2015. Patients' medical records were reviewed and cytologic materials were evaluated. RESULTS: A total of 151 specimens were identified, with a mean age of 62.8 years; 62.9% of the patients had a prior history of malignancy. Carcinoma/adenocarcinoma was the most common (80%) diagnosis. The targeted lesions were predominantly located in the lung (56.3%, 81/151) and pleural based (27.8%, 42/151). The mean size of the lesions was 3.6 cm. Cytology specimens were adequate in 70.9% of the cases, while 72.8% (110/151) of the cases also had concurrent core biopsy. A malignant diagnosis was rendered in the majority of the cases (64.9%). In 71% of the cases, immunohistochemistry/histochemistry studies were successfully performed. Molecular/genetic studies were requested in 80% of the cases and had adequate material. Complications of the procedure were seen in 9.9% of the patients including pneumothorax (7.9%) and hemoptysis (1.9%). CONCLUSION: TT-NA is a relatively safe and reliable technique in the assessment of pulmonary lesions.


Asunto(s)
Adenocarcinoma del Pulmón/diagnóstico , Biopsia con Aguja/métodos , Biopsia Guiada por Imagen/métodos , Neoplasias Pulmonares/diagnóstico , Ultrasonografía Intervencional/métodos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Femenino , Perfilación de la Expresión Génica , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
17.
Genes Chromosomes Cancer ; 59(1): 58-63, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31408245

RESUMEN

We report an Xp11 translocation perivascular epithelioid cell tumor (PEComa) with a novel RBMX-TFE3 gene fusion, resulting from a paracentric X chromosome inversion, inv(X)(p11;q26). The neoplasm occurred in an otherwise healthy 12-year-old boy who presented with a large left renal mass with extension into the inferior vena cava. The patient was found to have multiple pulmonary metastases at diagnosis and died of disease 3 months later. The morphology (epithelioid clear cells with alveolar and nested architecture) and immunophenotype (TFE3 and HMB45 strongly positive; actin, desmin, and PAX8 negative) was typical of an Xp11 translocation PEComa; however, TFE3 rearrangement was initially not detected by routine TFE3 break-apart fluorescence in situ hybridization (FISH). Further RNA sequencing revealed a novel RBMX-TFE3 gene fusion, which was subsequently confirmed by fusion assay FISH, using custom design RBMX and TFE3 come-together probes. This report describes a novel TFE3 gene fusion partner, RBMX, in a pediatric renal PEComa patient associated with a fulminant clinical course. As documented in other intrachromosomal Xp11.2 inversions, such as fusions with NONO, RBM10, or GRIPAP1 genes, the TFE3 break-apart might be below the FISH resolution, resulting in a false negative result.

18.
Laryngoscope ; 130(12): E782-E785, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-31782800

RESUMEN

Paragangliomas of the head and neck are rare, and most frequently benign, slow growing, and nonsecretory. The most frequent locations these tumors arise in the head and neck include the carotid body, jugular bulb, vagus nerve, tympanic branch of the glossopharyngeal nerve, and sympathetic chain. Here we present, to our knowledge, the second reported case of paraganglioma of the recurrent laryngeal nerve. This case is unique given the patient presentation due to ipsilateral vocal fold paralysis, which has not previously been reported, lack of previous surgery, and demonstration of loss of succinate dehydrogenase iron-sulfur subunit B expression. Laryngoscope, 2019.


Asunto(s)
Neoplasias de Cabeza y Cuello/diagnóstico por imagen , Neoplasias de Cabeza y Cuello/cirugía , Paraganglioma/diagnóstico por imagen , Paraganglioma/cirugía , Nervio Laríngeo Recurrente/diagnóstico por imagen , Nervio Laríngeo Recurrente/cirugía , Diagnóstico Diferencial , Neoplasias de Cabeza y Cuello/patología , Humanos , Biopsia Guiada por Imagen , Laringoscopía , Masculino , Persona de Mediana Edad , Paraganglioma/patología , Nervio Laríngeo Recurrente/patología , Parálisis de los Pliegues Vocales/etiología
19.
Am J Mens Health ; 13(4): 1557988319861587, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31262221

RESUMEN

Eccentric exercise has been suggested to improve muscle atrophy, muscle function, and insulin sensitivity. The aim of this study was to examine the effect of acute eccentric exercise on appetite-related hormones, food preferences, and food intake. Fourteen moderately active men were recruited to participate in this study (age 24.2 ± 5.5 years; BMI 23.4 ± 3.3 kg/m2; VO2max 48.9 ± 3.1 ml/kg/min). Three different conditions were implemented; no exercise, flat running "inclination 0" and downhill running "inclination -12%." Appetite-related hormones, subjective appetite sensations, food preference and reward, and ad libitum food intake were measured at pre-, immediately post-, and 24 h post exercise. There were no significant median changes in total ghrelin or pancreatic peptide concentrations between conditions. There were also no median differences in subjective appetite ratings or energy intake between conditions, but the median change in explicit liking of sweet versus savory foods differed significantly between pre-exercise and 24 h post exercise (p = .013). Post-hoc analysis observed a significant difference in the pre-exercise to 24 h post exercise change between front running and downhill running (p = .023), and indicated greater liking of savory foods over sweet foods in downhill running than front running. However, no further differences were seen between conditions for the remaining food preference parameters, suggesting there were no systematic trends in these data. In conclusion, there was no effect of front and downhill running on eating behavior as compared to a nonexercise control condition, but these data need to be replicated in a larger and more heterogeneous sample.


Asunto(s)
Apetito/fisiología , Ejercicio Físico/fisiología , Preferencias Alimentarias , Ingestión de Energía , Ghrelina/sangre , Humanos , Masculino , Polipéptido Pancreático/sangre , Carrera/fisiología , Encuestas y Cuestionarios , Adulto Joven
20.
Curr Obes Rep ; 8(2): 77-87, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-31037612

RESUMEN

PURPOSE OF REVIEW: The goals of this paper are to report current research practices in investigations of human appetite control and to assess their relationships with emerging theoretical principles. Appetite is often distinguished by the separation of homeostatic and hedonic processes. RECENT FINDINGS: This report assesses the validity of a homeostatic toolkit to measure subjectively perceived hunger and its relationship to the developing processes of satiation (control of meal size) and satiety (control of the post-eating period). The capacity of a procedure to measure the influence of hedonic processes on food intake is also evaluated. A major issue is the relationship between the pattern of eating behaviour (influenced by the underlying drive to eat and the inhibition induced by the act of eating itself) and the parallel underlying profile of hormonal and other metabolic biomarkers. Increasing recognition is being given to individual variability in the expression of appetite, and the fact that the use of the average (mean) response conceals important information about the nature of appetite control. There is a growing interest in the identification of satiety phenotypes that operate in parallel to metabolic phenotypes. Interestingly, energy expenditure (metabolic and behavioural) contributes to an energy balance framework for understanding energy intake (appetite).


Asunto(s)
Apetito , Obesidad/epidemiología , Saciedad , Regulación del Apetito , Biomarcadores/sangre , Composición Corporal , Ingestión de Alimentos/psicología , Metabolismo Energético , Hormonas Gastrointestinales/sangre , Conductas Relacionadas con la Salud , Humanos , Hambre , Comidas , Obesidad/psicología , Hormonas Peptídicas/sangre , Tamaño de la Porción
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