RESUMEN
Activated phosphoinositide 3-kinase delta syndrome (APDS) is a rare genetic disorder that presents clinically as a primary immunodeficiency. Clinical presentation of APDS includes severe, recurrent infections, lymphoproliferation, lymphoma, and other cancers, autoimmunity and enteropathy. Autosomal dominant variants in two independent genes have been demonstrated to cause APDS. Pathogenic variants in PIK3CD and PIK3R1, both of which encode components of the PI3-kinase, have been identified in subjects with APDS. APDS1 is caused by gain of function variants in the PIK3CD gene, while loss of function variants in PIK3R1 have been reported to cause APDS2. We conducted a review of the medical literature and identified 256 individuals who had a molecular diagnosis for APDS as well as age at last report; 193 individuals with APDS1 and 63 with APDS2. Despite available treatments, survival for individuals with APDS appears to be shortened from the average lifespan. A Kaplan-Meier survival analysis for APDS showed the conditional survival rate at the age of 20 years was 87%, age of 30 years was 74%, and ages of 40 and 50 years were 68%. Review of causes of death showed that the most common cause of death was lymphoma, followed by complications from HSCT. The overall mortality rate for HSCT in APDS1 and APDS2 cases was 15.6%, while the mortality rate for lymphoma was 47.6%. This survival and mortality data illustrate that new treatments are needed to mitigate the risk of death from lymphoma and other cancers as well as infection. These analyses based on real-world evidence gathered from the medical literature comprise the largest study of survival and mortality for APDS to date.
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Síndromes de Inmunodeficiencia , Linfoma , Neoplasias , Enfermedades de Inmunodeficiencia Primaria , Adulto , Humanos , Adulto Joven , Fosfatidilinositol 3-Quinasa Clase I/genética , Síndromes de Inmunodeficiencia/genética , Síndromes de Inmunodeficiencia/terapia , Mutación , Neoplasias/genética , Fosfatidilinositol 3-Quinasa/genética , Fosfatidilinositol 3-Quinasas , Tasa de Supervivencia , Persona de Mediana EdadRESUMEN
Melioidosis, caused by Burkholderia pseudomallei, is a rare but potentially fatal bacterial disease endemic to tropical and subtropical regions worldwide. It is typically acquired through contact with contaminated soil or fresh water. Before this investigation, B. pseudomallei was not known to have been isolated from the environment in the continental United States. Here, we report on three patients living in the same Mississippi Gulf Coast county who presented with melioidosis within a 3-year period. They were infected by the same Western Hemisphere B. pseudomallei strain that was discovered in three environmental samples collected from the property of one of the patients. These findings indicate local acquisition of melioidosis from the environment in the Mississippi Gulf Coast region.
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Burkholderia pseudomallei , Microbiología Ambiental , Melioidosis , Humanos , Burkholderia pseudomallei/genética , Burkholderia pseudomallei/aislamiento & purificación , Melioidosis/epidemiología , Melioidosis/microbiología , Estados Unidos/epidemiologíaRESUMEN
PURPOSE: The aim of this study was to explore practicing speech-language pathologists' (SLPs') perceptions of factors that could facilitate or prevent the use of speech-generating devices (SGDs) in bilingual individuals with aphasia. Specifically, this exploratory study sought to identify the facilitators and barriers to SGD use in individuals with culturally and linguistically diverse backgrounds. METHOD: An online survey was distributed to SLPs through an e-mail listserv and social media of an augmentative and alternative communication company. This article focused on the results of the survey items related to (a) the presence of bilingual individuals with aphasia on an SLP's caseload, (b) training related to SGD or bilingual aphasia, and (c) barriers and facilitators to SGD use. A thematic analysis was conducted to analyze the barriers and facilitators to SGD use reported by the respondents. RESULTS: A total of 274 SLPs who met the inclusion criteria had experience in implementing SGD for people with aphasia. Regarding relevant training, our results indicated that very few SLPs received bilingual aphasia intervention training (17.22%) or bilingual SGD training (0.56%) in graduate school. The results from our thematic analysis revealed four major themes of barriers and facilitators to SGD use, including (a) hardware and software, (b) cultural and language content, (c) SLP's cultural and linguistic competency, and (d) resources. CONCLUSIONS: Practicing SLPs reported several barriers to SGD use in bilinguals with aphasia. Most notably, language barriers for monolingual SLPs were seen as the greatest barrier to language recovery in individuals with aphasia whose primary language is not English. Several other barriers were consistent with previous research, such as financial factors and insurance disparities. The top three most important factors that facilitate SGD use in bilinguals with aphasia, as identified by the respondents, include user-friendly symbol organization, personalized words, and ease of programming.
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Afasia , Trastornos de la Comunicación , Patología del Habla y Lenguaje , Humanos , Habla , Lenguaje , Barreras de Comunicación , Encuestas y CuestionariosRESUMEN
OBJECTIVE: The purpose of this feasibility pilot study was to evaluate safety and adherence of a wearable brain sensing wellness device designed to reduce stress among healthcare professionals (HCP). METHODS: A total of 40 HCP were invited to participate in an open-label pilot study. Participants were asked to use a brain sensing wearable device (MUSE-S™) on a daily basis to reduce their stress, for a total of 90 days. Total study participation duration was 180 days. Study enrollment began in August 2021 and ended December 2021. The exploratory outcomes included stress, depression, sleep, burn-out, resilience, quality of life, and cognition. RESULTS: Among the 40 HCP in study, the majority were female (85%), white (87.5%) and with an average age of 41.3 ± 11.0 years (SD). Participants used the wearable device an average of 23.8 times over a 30-day period with a mean duration of 5.8 min with each use. Study results demonstrate the positive impact of guided mindfulness using the wearable device MUSE-S™ and its accompanying application (APP). A statistically significant improvement was found for a reduction in stress (P < .001) and improvement in resilience (P = .02), quality of life (P = .003), and cognition (P < .001). The majority (91.9%) of the participants indicated they felt more relaxed after using the device, and 73% indicated they would continue to use this device at end-of-study. No adverse effects were reported. CONCLUSION: Study results show that 3 to 10 min of guided meditation during work hours through the use of a brain sensing wearable device is safe and acceptable, with associated health benefits for HCP.
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Atención Plena , Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Proyectos Piloto , Atención Plena/métodos , Calidad de Vida , Pandemias , Alprostadil , Personal de Salud , EncéfaloRESUMEN
While plant-based eating has become increasingly popular, little is known of how this trend has impacted childcare center meals. The purpose of this study was to measure the nutrient content and diet quality of vegetarian alternative lunches and compare these measures to those of standard childcare lunches and nutrient benchmarks representing one-third of the Dietary Reference Intake for 3-year-olds and 4-5-year-olds. Menu data were obtained from seven urban Kansas childcare centers participating in the Child and Adult Care Food Program and regularly providing a vegetarian alternative lunch. The centers provided detailed menu information for 27 days' worth of meals. The most common vegetarian substitution was cheese, which was used to fulfill all or part of the meat/meat alternative requirement in over three-quarters of the vegetarian alternative meals (n = 22). Compared to the standard meals, the vegetarian alternative meals were higher in calories, fat, saturated fat, calcium, and sodium and lower in protein, choline, and diet quality (p = 0.05). Both lunch options met the benchmarks for vitamin A, vitamin D, vitamin B12, calcium, and protein. Iron content for both (95% CI: standard 1.61-2.17 mg; vegetarian 1.37-2.7 mg) was below the benchmark. Although additional research is needed to better understand how vegetarianism has impacted childcare meals in the U.S., important differences in the nutrient contents were observed between the standard and vegetarian alternative meals. In addition, the results suggest vegetarian alternative meals that rely heavily on cheese may be of lower diet quality.
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Servicios de Alimentación , Adulto , Calcio , Niño , Cuidado del Niño , Preescolar , Dieta , Dieta Vegetariana , Humanos , Kansas , Almuerzo , Valor Nutritivo , VegetarianosRESUMEN
Congenital heart defects (CHD) are the most commonly occurring birth defect and can occur in isolation or with additional clinical features comprising a genetic syndrome. Autosomal dominant variants in TAB2 are recognized by the American Heart Association as causing nonsyndromic CHD, however, emerging data point to additional, extra-cardiac features associated with TAB2 variants. We identified 15 newly reported individuals with pathogenic TAB2 variants and reviewed an additional 24 subjects with TAB2 variants in the literature. Analysis showed 64% (25/39) of individuals with disease resulting from TAB2 single nucleotide variants (SNV) had syndromic CHD or adult-onset cardiomyopathy with one or more extra-cardiac features. The most commonly co-occurring features with CHD or cardiomyopathy were facial dysmorphism, skeletal and connective tissue defects and most subjects with TAB2 variants present as a connective tissue disorder. Notably, 53% (8/15) of our cohort displayed developmental delay and we suspect this may be a previously unappreciated feature of TAB2 disease. We describe the largest cohort of subjects with TAB2 SNV and show that in addition to heart disease, features across multiple systems are present in most TAB2 cases. In light of our findings, we recommend that TAB2 be included on the list of genes that cause syndromic CHD, adult-onset cardiomyopathy, and connective tissue disorder.
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Proteínas Adaptadoras Transductoras de Señales/genética , Enfermedades Cardiovasculares/diagnóstico , Enfermedades Cardiovasculares/genética , Enfermedades del Tejido Conjuntivo/diagnóstico , Enfermedades del Tejido Conjuntivo/genética , Mutación , Trastornos del Neurodesarrollo/diagnóstico , Trastornos del Neurodesarrollo/genética , Adolescente , Adulto , Alelos , Biopsia , Niño , Preescolar , Análisis Mutacional de ADN , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Humanos , Lactante , Masculino , Fenotipo , Polimorfismo de Nucleótido Simple , Adulto JovenRESUMEN
Military service is inherently demanding and, due to the nature of these demands, the term "tactical athlete" has been coined to capture the physical requirements of the profession. Reserve Officers' Training Corps (ROTC) cadets are a unique subset of the military service community, and the complexity of their training and educational pursuits increases their susceptibility to unhealthy eating patterns. The purpose of this pilot study was to explore the relationship between the perceived barriers to healthy eating, food insecurity, sports nutrition knowledge, and dietary patterns among Army ROTC cadets. The usual dietary intake was gathered from (N = 37) cadets using the General Nutrition Assessment Food Frequency Questionnaire. The perceived barriers to healthy eating were measured using a set of scales consisting of social barriers (6 items, α = 0.86), access barriers (2 items, α = 0.95), and personal barriers (2 items, α = 0.67), with higher-scale scores indicating greater perceived barriers. Spearman correlation coefficients were used to measure the association between the energy-adjusted dietary intakes and the scores on the barriers scales. Energy-adjusted intakes of calcium (ρ = -0.47, p ≤ 0.01), fiber (ρ = -0.35, p = 0.03), vitamin A (ρ = -0.46, p ≤ 0.01), vitamin C (ρ = -0.43, p ≤ 0.01), fruit (ρ = -0.34, p = 0.04), and vegetables (ρ = -0.50, p ≤ 0.01) were negatively correlated with the perceived personal barrier scores. The energy-adjusted intakes of fiber (ρ = -0.36, p = 0.03), vitamin C (ρ = -0.37, p = 0.03), and vitamin E (ρ = -0.45, p ≤.01) were negatively correlated with perceived social barriers, while energy-adjusted vitamin C intake was negatively correlated with perceived access barriers (ρ = -0.40, p = 0.01). Although additional research is needed to better understand the dietary patterns of ROTC cadets, among the participants in this study, greater perceived personal, social, and access barriers were associated with less nutrient-dense eating patterns. Interventions aimed at addressing such barriers may prove beneficial for the improvement of diet quality among ROTC cadets.
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Dieta Saludable/métodos , Conducta Alimentaria , Inseguridad Alimentaria , Personal Militar/estadística & datos numéricos , Ciencias de la Nutrición y del Deporte/educación , Adolescente , Adulto , Estudios Transversales , Dieta/métodos , Ingestión de Alimentos , Ingestión de Energía , Femenino , Humanos , Masculino , Personal Militar/psicología , Aptitud Física , Proyectos Piloto , Estadísticas no Paramétricas , Encuestas y Cuestionarios , Estados Unidos , Adulto JovenRESUMEN
With the recent unprecedented shift toward contactless healthcare solutions, providers should recall the value that proper palpation adds to dermatologic practice. We present a case that demonstrates the limitations of touchless care and how proper palpation during skin cancer examinations may impact cosmetic outcomes. Our patient is an 86-year-old male patient with Sezary syndrome and monoclonal B-cell lymphocytosis whose squamous cell carcinoma invasion was missed by visual inspection alone. He delayed treatment of his biopsy-proven squamous cell carcinoma for 15 months. On follow-up, visual examination only showed a well-healed biopsy scar, and treatment was delayed another 2 months. Finally, thorough physical examination found perineural invasion. This helped guide the Mohs approach, but due to the delays resulted in a larger final defect and poorer cosmetic outcomes. Proper, deep palpation of skin lesions, especially prior biopsy sites, is imperative to the treatment of skin cancer in cosmetically sensitive areas. Biopsy scars on the face often heal well, and visual only inspection may miss crucial details. This case also reminds dermatologists of the importance of patient education in the prompt treatment of skin cancer for the best cosmetic outcomes.
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Carcinoma Basocelular , Carcinoma de Células Escamosas , Neoplasias Cutáneas , Anciano de 80 o más Años , Carcinoma Basocelular/diagnóstico , Carcinoma de Células Escamosas/diagnóstico , Detección Precoz del Cáncer , Humanos , Masculino , Palpación , Examen Físico , Neoplasias Cutáneas/diagnósticoRESUMEN
PURPOSE: To explore the relationship between body weight status and neurocognitive functioning in soldiers. METHODS: U.S. soldiers (N = 109) answered survey questions and completed neurocognitive tests including simple reaction time, code substitution, procedural reaction time, go-no-go, matching to sample, code substitution recall, and four versions of the Stroop test including congruent (color and meaning of word agreed); incongruent (color and meaning of word differed); neutral (nonsense words appeared), and emotional (combat-related words such as "I.E.D" and "convoy" appeared). Self-reported heights and weights were used to calculate BMI. A BMI ≥ 30.00 kg/m2 was categorized as obese. Multivariate analysis of variance was used to analyze weight status differences (p ≤ 0.05) across neurocognitive variables. Binomial logistic regression analysis with obesity as the dependent variable was used to ascertain the contributions (p ≤ 0.05) of exercise and the neurocognitive measures that differed based on weight status. RESULTS: Twenty-nine participants (26.6%) were obese. The obese group had significantly lower scores on code substitution, and both neutral and emotional Stroop tasks. Only Stroop emotional scores, p = 0.022, OR = 0.97, and frequency of moderate/intense physical activity, p = 0.009, OR = 0.10, were significant predictors of weight status. CONCLUSIONS: Obesity was associated with less frequent moderate/intense physical activity and compromised executive functioning, namely decrements in response inhibition. Given the design and sample size, additional research is needed to better understand the direction of the relationship between these variables and to inform research related to the treatment and prevention of obesity within military populations. LEVEL OF EVIDENCE: Level III, case-control analytic study.
Asunto(s)
Personal Militar , Cognición , Función Ejecutiva , Ejercicio Físico , Humanos , ObesidadRESUMEN
Infection-induced panniculitis has been described in association with a broad range of microorganisms. Among those, viral panniculitis represents a minor category, with only a few anecdotal reports in the literature documenting viral infection in the subcutaneous fat. Herein, we report a woman in her 30s with seropositive rheumatoid arthritis on rituximab and prednisone, who presented with a 6-month history of progressive multisystem manifestations, including unintentional weight loss, fever, fatigue, myopathy, pancreatitis, and sensorineural hearing loss. She had indurated plaques on her thighs characterized by predominantly lobular panniculitis with chronic lymphohistiocytic inflammation. Molecular studies performed at the Centers for Disease Control and Prevention identified evidence of Enterovirus group with the highest identity of Coxsackievirus A9. Enterovirus RNA was also detected in the cerebrospinal fluid and muscle. Based on the findings, a diagnosis of disseminated enteroviral infection in the setting of B-cell depletion was rendered. To the best of our knowledge, this represents the first reported case of viral panniculitis with documentation of Coxsackievirus A9 in the skin. Since rituximab may be used for the treatment of autoimmune dermatological diseases, familiarity of the potential occurrence of severe enteroviral infections in the setting of immunosuppressive treatment is important for dermatopathologists.
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Artritis Reumatoide/sangre , Infecciones por Enterovirus/complicaciones , Enterovirus/genética , Inmunoglobulinas Intravenosas/uso terapéutico , Paniculitis/etiología , Paniculitis/terapia , Adulto , Artritis Reumatoide/diagnóstico , Artritis Reumatoide/tratamiento farmacológico , Diagnóstico Diferencial , Enterovirus/aislamiento & purificación , Enterovirus Humano B/genética , Infecciones por Enterovirus/líquido cefalorraquídeo , Infecciones por Enterovirus/microbiología , Femenino , Humanos , Inmunoglobulinas Intravenosas/administración & dosificación , Factores Inmunológicos/efectos adversos , Factores Inmunológicos/uso terapéutico , Infecciones Oportunistas/complicaciones , Paniculitis/patología , Paniculitis/virología , Rituximab/efectos adversos , Rituximab/uso terapéutico , Resultado del TratamientoRESUMEN
School-based child nutrition programs provide students with meals and snacks that align with guidelines for a healthy eating pattern. However, participation is not universal, and research on the determinants of food selection is needed to improve school nutrition practices and policies. The purpose of this study was to examine the relationships between grade level (i.e., grade school, middle school, or high school) as well as meal participation category (i.e., only breakfast, only lunch, or both) and food trying and liking in a large urban school district. Outcomes were measured using an online survey completed by students from 2nd through 12th grade (n = 21,540). Breakfast and lunch item liking scores were higher among the grade school and middle school students than among the high school students. Breakfast and lunch liking scores were also higher among those who participated in both breakfast and lunch as opposed to those who only participated in one meal. Food item liking scores were positively correlated with the percentage of students who had tried the particular foods (r = 0.52, p < 0.001), and the number of foods tried was dependent on both grade level and meal participation category (F(4, 21,531) = 10.994, p < 0.001). In this survey of students, both grade level and meal participation category were found to be related to the liking of foods, while foods that were tried more often tended to be liked more. Future studies should consider grade level and meal participation when exploring student preferences. School nutrition programs should also consider these factors when assessing satisfaction.
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Preferencias Alimentarias , Servicios de Alimentación , Comidas , Niño , Frutas , Humanos , Almuerzo , Instituciones Académicas , Población Urbana , VerdurasRESUMEN
The U.S. Army's Child, Youth, and School Services (CYS), which has the capacity to serve more than 70,000 meals/snacks per day, is a geographically dispersed system with facilities worldwide. This case report is a description and evaluation of the implementation of a major food program initiative within the CYS system. In collaboration with Kansas State University, the Healthy Menu Initiative was established to standardize the system's menus, reflect the guidance contained within the 2015-2020 Dietary Guidelines for Americans, and take into account the Child and Adult Care Food Program regulations that went into effect on 1 October 2017. Food storage space, food service equipment, product availability, food safety considerations, and staff shortages have all proven to be challenges in the development and implementation of the menus. Participant acceptance has been an issue in some instances, and special diet requirements add to the workload of the staff. To overcome these challenges, input was solicited from CYS management, care providers, food service staff, and participant families, as well as participants themselves. Taste testing and classroom cooking activities have been developed to increase acceptance, and over 500 CYS food program staff have attended in-depth training sessions to support the initiative. Overall, the initiative has been well received, and there has been an improvement in the diet quality of the foods served within the program. This improvement is noteworthy, as optimal growth and development during childhood and adolescence are reliant on sound nutrition.
Asunto(s)
Dieta , Servicios de Alimentación , Planificación de Menú , Política Nutricional , Adolescente , Niño , Fenómenos Fisiológicos Nutricionales Infantiles , Humanos , Kansas , Servicios de Salud MilitaresRESUMEN
OBJECTIVE: To evaluate the Child and Adult Care Food Program (CACFP) rule that allows a meat/meat alternative to replace the breakfast grain requirement three times per week. DESIGN: A 5-week menu including breakfast, lunch and snack was developed with meat/meat alternative replacing the breakfast grain requirement three times per week. Menu nutrients based on the minimum requirements were compared with reference values representing the Acceptable Macronutrient Distribution Range for fat and a range of reference values representing two-thirds the Dietary Reference Intake for 3-year-olds and 4-5-year-olds. The meal pattern minimum requirements were compared with two-thirds of those recommended by the Dietary Guidelines for Americans (DGA). SETTING: Evaluation took place between April and June 2019. PARTICIPANTS: Human subjects were not utilized. RESULTS: The CACFP minimum grain requirement is well below the DGA reference value (0·5-1·5 v. 3·33 ounce-equivalents). Energy (2208·52 kJ) was below the reference values (3126·83-4362·53 kJ). Protein (34·43 g) was above the reference values (9·87-10·81 g). Carbohydrate (76·65 g), fibre (7·46 g) and vitamin E (1·69 mg) were below their reference values of 86·67 g, 10·46-14·60 g and 4-4·76 mg, respectively. Fat (22·57 %) was below the reference range (25-40 %). CONCLUSIONS: The CACFP rule which allows a meat/meat alternative to replace the breakfast grain requirement three times per week may result in meal patterns low in energy, carbohydrate, fat, fibre and vitamin E, while providing an excessive amount of protein.
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Grano Comestible , Carne , Planificación de Menú , Nutrientes/análisis , Política Nutricional , Desayuno , Preescolar , Femenino , Humanos , Almuerzo , Masculino , Ingesta Diaria Recomendada , BocadillosRESUMEN
LONP1 is an ATP-dependent protease and chaperone that plays multiple vital roles in mitochondria. LONP1 is essential for mitochondrial homeostasis due to its role in maintenance of the mitochondrial genome and its central role in regulating mitochondrial processes such as oxidative phosphorylation, mitophagy, and heme biosynthesis. Bi-allelic LONP1 mutations have been reported to cause a constellation of clinical presentations. We report a patient heterozygous for a de novo mutation in LONP1: c.901C>T,p.R301W presenting as a neonate with seizures, encephalopathy, pachygyria and microcephaly. Assays of respiratory chain activity in muscle showed complex II-III function at 8% of control. Functional studies in patient fibroblasts showed a signature of dysfunction that included significant decreases in known proteolytic targets of LONP1 (TFAM, PINK1, phospho-PDH E1α) as well as loss of mitochondrial ribosome subunits MRPL44 and MRPL11 with concomitant decreased activity and level of protein subunits of oxidative phosphorylation complexes I and IV. These results indicate excessive LONP1 proteolytic activity and a loss of LONP1 chaperone activity. Further, we demonstrate that the LONP1 N-terminal domain is involved in hexamer stability of LONP1 and that the ability to make conformational changes is necessary for LONP1 to regulate proper functioning of both its proteolytic and chaperone activities.
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Proteasas ATP-Dependientes/genética , Mitocondrias/patología , Encefalomiopatías Mitocondriales/genética , Proteínas Mitocondriales/genética , Chaperonas Moleculares/genética , Proteolisis , Transporte de Electrón/genética , Transporte de Electrón/fisiología , Femenino , Hemo/biosíntesis , Humanos , Recién Nacido , Mitocondrias/genética , Mitofagia/genética , Fosforilación Oxidativa , Convulsiones/genéticaRESUMEN
PURPOSE OF REVIEW: The burden of malnutrition is high in patients with cirrhosis, especially in those with hepatic encephalopathy (HE). This has a bearing on increased morbidity and mortality. Heightened attention needs to be paid to screen the patients at high nutritional risk both in the outpatient and hospitalized settings. This review summarizes the current evidence for nutritional support in HE patients and compares the recommendations about nutritional requirement as laid out by various organizations. RECENT FINDINGS: On survey of the literature, there is a consensus on avoiding protein restriction of the diets in HE patients along with uniform recommendations on caloric requirements. An exciting field of manipulating the gut microbiome in nutritional sciences may hold promise as well as there may be a future role for branched chain amino acids in nutritional management of HE patients. SUMMARY: Even though the data suggest that nutritional improvement lead to better outcomes including lower readmission rates in cirrhosis, operationalizing these into practice remains a challenge. To achieve this, a multi-disciplinary approach with nutritional education of the frontline care providers, earlier nutritional risk screening of patients, involvement of the nutrition professionals as part of the team and repeated dietary counseling for the patient and caregiver/s is required. Ultimately, this may need more focus, resource allocation and uniform guidelines across all countries to make this a success.
RESUMEN
Objective: To explore the relationship between symptoms of attention-deficit hyperactivity disorder (ADHD), symptoms of binge eating disorder, and body mass index (BMI) among students at a southern university. Participants: Two hundred seventy-seven college students. Methods: Between January 31, 2013 and March 27, 2013, participants completed the Adult ADHD Self-Report Scale (ASRS) Screener and the Binge Eating Scale (BES) in addition to permitting researchers to measure their height and weight. Results: Higher ASRS scores, higher BMIs, and lower BES scores were observed among men. Among both men and women, BES scores were positively correlated with BMI and ASRS scores; however, the correlation between ASRS and BMI was not significant. Conclusion: Binge eating disorder symptomatology was associated with increased ADHD symptomatology and a higher BMI among both men and women. Among students presenting with obesity or ADHD, screening for binge eating may assist with the identification of problematic eating behaviors.
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Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Trastorno por Atracón/epidemiología , Índice de Masa Corporal , Adolescente , Adulto , Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Trastorno por Atracón/fisiopatología , Conducta Alimentaria , Femenino , Humanos , Masculino , Autoinforme , Factores Socioeconómicos , Estudiantes , Universidades , Adulto JovenRESUMEN
Malnutrition is widely prevalent in cirrhosis patients, which can worsen sarcopenia, hepatic encephalopathy (HE), and overall prognosis. We aimed to define the frequency of nutritional assessments of patients with cirrhosis in retrospective and prospective (after educational training) cohorts and to evaluate prospective changes along with their effects on 90-day readmissions. This study was conducted in 2 phases. Retrospectively, records of hospitalized patients with cirrhosis from the university and Veterans Affairs Medical Center (VAMC) settings were reviewed to assess nutritional status, if a nutrition consultation occurred, the number of days patients were nil per os (npo) and received inadequate nutrition, and if nutritional management was guideline directed. In the prospective phase, after dedicated educational efforts directed at the stakeholders regarding nutritional guidelines for patients with cirrhosis, subsequently hospitalized cirrhosis patients had nutritional and 90-day readmission data collected for comparison between groups. In total, 279 patients were included in the retrospective phase (150 university/129 VAMC), and 102 VAMC patients were in the prospective phase. Cirrhosis severity, reason for admission, and hospital course were similar between groups regardless of cohort, ie, prospective versus retrospective or VAMC versus university. The prospective group had significantly more nutritional consultations and assessments (74.5% versus 40.1%; P < 0.001) compared with the retrospective group regardless of comparisons between the VAMC and university cohorts. Both groups had a similar number of days npo, but the prospective group had fewer days of inadequate nutrition. The 90-day readmission rate was significantly lower in the prospective group versus the retrospective group (39.4% versus 28.4%; P = 0.04), which was associated with greater nutrition outpatient follow-up. In conclusion, nutritional consultation rates in inpatients with cirrhosis can be significantly improved after educational intervention and is associated with lower 90-day readmission rates.
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Cirrosis Hepática/complicaciones , Desnutrición/diagnóstico , Evaluación Nutricional , Educación del Paciente como Asunto , Derivación y Consulta/organización & administración , Anciano , Femenino , Humanos , Cirrosis Hepática/diagnóstico , Cirrosis Hepática/terapia , Masculino , Desnutrición/etiología , Desnutrición/prevención & control , Desnutrición/terapia , Persona de Mediana Edad , Nutricionistas/organización & administración , Readmisión del Paciente/estadística & datos numéricos , Estudios Prospectivos , Estudios Retrospectivos , Factores de Riesgo , Índice de Severidad de la EnfermedadRESUMEN
A previously healthy 10-year-old girl presented to the emergency department (ED) with a headache and vomiting which resolved with oral NSAIDs. The patient returned two days later unable to ambulate with mental slowing and lower extremity bruising. Labs demonstrated marked leukocytosis, severe anemia and thrombocytopenia, and disseminated intravascular coagulation (DIC). Brain MRI showed multiple intracranial hemorrhages. A peripheral blood smear demonstrated blasts with many Auer rods. A diagnosis of acute promyelocytic leukemia (APL) was made and therapy including all-transretinoic acid (ATRA) was initiated. Neurologic status returned to baseline within 1 week in the pediatric intensive care unit.
RESUMEN
Glioblastoma is the most common type of adult brain tumour and has a median survival after diagnosis of a little more than a year. Glioblastomas have a high frequency of mutations in the TERT promoter and CDKN2A locus that are expected to render them resistant to both replicative and oncogene-induced senescence. However, exposure of PriGO8A primary glioblastoma cells to media with 10% serum induced a senescence-like phenotype characterized by increased senescence-associated ß galactosidase activity, PML bodies and p21 and morphological changes typical of senescence. Microarray expression analysis showed that 24 h serum exposure increased the expression of genes associated with the TGFß pathway. Treatment of PriGO8A cells with TGFß was sufficient to induce senescence in these cells. The response of PriGO8A cells to serum was dependent on basal expression of the TGFß activator protein thrombospondin. Primary glioblastoma cells from three additional patients showed a variable ability to undergo senescence in response to serum. However all were able to undergo senescence in response to TGFß, although for cells from one patient this required concomitant inhibition of Ras pathway signalling. Primary glioblastoma cells therefore retain a functional senescence program that is inducible by acute activation of the TGFß signalling pathway.