RESUMEN
Mutations of the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2) cause classical forms of Rett syndrome (RTT) in girls. A subset of patients who are recognized to have an overlapping neurological phenotype with RTT but are lacking a mutation in a gene that causes classical or atypical RTT can be described as having a 'Rett-syndrome-like phenotype (RTT-L). Here, we report eight patients from our cohort diagnosed as having RTT-L who carry mutations in genes unrelated to RTT. We annotated the list of genes associated with RTT-L from our patient cohort, considered them in the light of peer-reviewed articles on the genetics of RTT-L, and constructed an integrated protein-protein interaction network (PPIN) consisting of 2871 interactions connecting 2192 neighboring proteins among RTT- and RTT-L-associated genes. Functional enrichment analysis of RTT and RTT-L genes identified a number of intuitive biological processes. We also identified transcription factors (TFs) whose binding sites are common across the set of RTT and RTT-L genes and appear as important regulatory motifs for them. Investigation of the most significant over-represented pathway analysis suggests that HDAC1 and CHD4 likely play a central role in the interactome between RTT and RTT-L genes.
Asunto(s)
Trastornos del Neurodesarrollo , Síndrome de Rett , Humanos , Síndrome de Rett/genética , Proteína 2 de Unión a Metil-CpG/genética , Mutación/genética , Fenotipo , Factores de Transcripción/genéticaRESUMEN
We present JRDB, a novel egocentric dataset collected from our social mobile manipulator JackRabbot. The dataset includes 64 minutes of annotated multimodal sensor data including stereo cylindrical 360 ° RGB video at 15 fps, 3D point clouds from two 16 planar rays Velodyne LiDARs, line 3D point clouds from two Sick Lidars, audio signal, RGB-D video at 30 fps, 360 ° spherical image from a fisheye camera and encoder values from the robot's wheels. Our dataset incorporates data from traditionally underrepresented scenes such as indoor environments and pedestrian areas, all from the ego-perspective of the robot, both stationary and navigating. The dataset has been annotated with over 2.4 million bounding boxes spread over five individual cameras and 1.8 million associated 3D cuboids around all people in the scenes totaling over 3500 time consistent trajectories. Together with our dataset and the annotations, we launch a benchmark and metrics for 2D and 3D person detection and tracking. With this dataset, which we plan on extending with further types of annotation in the future, we hope to provide a new source of data and a test-bench for research in the areas of egocentric robot vision, autonomous navigation, and all perceptual tasks around social robotics in human environments.
Asunto(s)
Entorno Construido , Robótica , Percepción Visual , Humanos , Algoritmos , Benchmarking , Robótica/métodosAsunto(s)
Curriculum , Dietética/educación , Ética Profesional , Medicina Basada en la Evidencia , Apoyo Nutricional , Dietética/ética , Dietética/normas , Dietética/tendencias , Ética Profesional/educación , Humanos , Comunicación Interdisciplinaria , Apoyo Nutricional/ética , Apoyo Nutricional/normas , Apoyo Nutricional/tendencias , Nutricionistas/educación , Nutricionistas/ética , Nutricionistas/normas , Cuidados Paliativos/ética , Cuidados Paliativos/normas , Cuidados Paliativos/tendencias , Guías de Práctica Clínica como Asunto , Rol Profesional , Sociedades Científicas , Estados Unidos , Recursos HumanosRESUMEN
PURPOSE: To assist the pharmacy clinician engaged in nutrition support in staying current with the most pertinent literature. METHODS: Several experienced board-certified clinical pharmacists in nutrition support compiled a list of publications published in 2013 that they considered to be important to their practice. The citation list was compiled into a Web-based survey whereby pharmacist members of the American Society for Parenteral and Enteral Nutrition (A.S.P.E.N.), GI-Liver-Nutrition Practice Research Network of the American College of Clinical Pharmacy, and the Pharmacy and Pharmacology Section of the Society of Critical Care Medicine were asked to rank each article according to level of importance in their practice. RESULTS: A total of 30 articles were identified by the author group. Thirty-six participants responded to the survey. The top-ranked papers by participants from the Web-based survey were reviewed by the authors. Due to its high level of importance, the parenteral nutrition safety consensus recommendations article, to be published in 2014 by A.S.P.E.N., was also reviewed. CONCLUSION: It is recommended that the informed pharmacist, who is engaged in nutrition support therapy, be familiar with the majority of these publications.
RESUMEN
Sandifer syndrome designates abnormal posturing in patients with gastroesophageal reflux. To explore its mechanisms via examining relationships among Sandifer syndrome posturing, abdominal wall contractions, and reflux episodes, we studied an affected child in detail. The study utilized esophageal pHmetry, surface electromyography, and split-screen videography. The multichannel physiologic study demonstrated association of rectus abdominis contraction with onset of reflux episodes (P < 0.001) and association of reflux episodes with Sandifer syndrome posturing. This child's subsequent course confirmed his diagnosis and suggested mechanisms of the association of reflux and Sandifer syndrome. We conclude that abdominal wall contractions may induce reflux episodes. Sandifer syndrome may be due to gastroesophageal reflux even without hiatal hernia, macroscopic esophagitis, or reflux symptoms. Despite the absence of more typical reflux symptoms and failure to respond to very aggressive medical therapy, Sandifer syndrome may resolve after fundoplication.
Asunto(s)
Fundoplicación/métodos , Reflujo Gastroesofágico/diagnóstico , Reflujo Gastroesofágico/cirugía , Contracción Muscular/fisiología , Postura , Pared Abdominal/fisiología , Preescolar , Electromiografía/métodos , Estudios de Seguimiento , Determinación de la Acidez Gástrica , Humanos , Concentración de Iones de Hidrógeno , Masculino , Enfermedades Raras , Medición de Riesgo , Síndrome , Resultado del TratamientoRESUMEN
OBJECTIVES: To determine the natural history of infant gastroesophageal reflux disease (GERD) with esophagitis, we periodically analyzed symptoms and biopsies during 1 yr in 19 infants randomly assigned to placebo in a pharmacotherapy study. METHODS: One hundred infants who were referred during 1994-1999 for GERD, were unresponsive to 2-wk life-style measures, and manifested morphometric reflux esophagitis, were assigned at random to one of four treatment arms. This analysis examines the 19 (ages 2.8-6.0 months) assigned to placebo who returned for initial follow-up. SYMPTOMS and esophageal biopsy were assessed at baseline and 2, 4, 6, and 12 months. At any visit with both symptoms and biopsy unimproved, infants were "rescued" to open label active drug. RESULTS: By 12 months, 10/19 completed without rescue; the 9 others withdrew (3) or required pharmacotherapy (6). SYMPTOMS: Among the 10 nonrescued completers, parents' global score rated 9 "completely well," and 1 "improved." Comparing 12-month symptoms to baseline symptoms in the 10 completers, fewer reported regurgitation >3/day, >1 Tbsp, or that was uncomfortable; crying >1 h/d, or during or after feeds; or arching spells or abnormal hiccups (p < 0.05, chi(2)). Biopsy: None of the 10 ever had normal biopsies (basal cell layer <25% and papillary height <53% of epithelial thickness). One had normal papillary height, but abnormal basal thickness. Five others had normal basal thickness, but all five of them had abnormal papillary height. CONCLUSION: Although symptoms improved in more than half of the infants with reflux esophagitis followed longitudinally for 1 yr without pharmacotherapy, histology remained abnormal.
Asunto(s)
Antiulcerosos/uso terapéutico , Esofagitis Péptica/tratamiento farmacológico , Antagonistas de los Receptores Histamínicos/uso terapéutico , Receptores Histamínicos H2/efectos de los fármacos , Biopsia , Terapia Combinada , Esofagitis Péptica/diagnóstico , Esofagitis Péptica/patología , Esófago/patología , Femenino , Estudios de Seguimiento , Motilidad Gastrointestinal/efectos de los fármacos , Humanos , Lactante , Estilo de Vida , Masculino , Observación , Remisión EspontáneaAsunto(s)
Cromo/administración & dosificación , Insulina/administración & dosificación , Nutrición Parenteral Total , Adulto , Anciano , Glucemia/análisis , Cromo/deficiencia , Suplementos Dietéticos , Relación Dosis-Respuesta a Droga , Femenino , Humanos , Insulina/metabolismo , Masculino , Persona de Mediana Edad , Necesidades Nutricionales , Nutrición Parenteral Total/efectos adversos , Nutrición Parenteral Total/normasAsunto(s)
Bencenosulfonatos/efectos adversos , Colorantes/efectos adversos , Nutrición Enteral/enfermería , Nutrición Enteral/efectos adversos , Nutrición Enteral/normas , Medicina Basada en la Evidencia , Humanos , Neumonía por Aspiración/diagnóstico , Neumonía por Aspiración/etiología , Guías de Práctica Clínica como Asunto , Factores de Riesgo , Seguridad , Estados Unidos , United States Food and Drug AdministrationRESUMEN
Pulmonary aspiration of gastric contents is common in enterally fed patients. Tinting enteral feedings with blue dye is thought to aid the early detection of aspiration in hospitalized patients. The blue-dye method is popular despite evidence that it is not sensitive. Reports of absorption of blue dye from enteral feedings in patients with sepsis and other critical illnesses are increasing. The presence of blue and green skin and urine, and serum discoloration has been linked with death. FD&C Blue No.1 and related dyes have toxic effects on mitochondria, suggesting that dye absorption is harmful. This study reviews the literature on the dye method and dye pharmacology, reports the results of a survey of current dye use, and describes 2 recent deaths associated with blue-dye absorption. We concluded that the use of blue dye in enteral feedings should be abandoned and replaced by evidence-based methods for the prevention of aspiration.
RESUMEN
Obstruction of enteral tubes places clinicians at a therapeutic crossroad. One must either remove the current device and replace it, or remove the obstruction from the tube. The following article addresses issues related to clogged or obstructed enteral feeding tubes, and methods used to restore patency to these devices. Additionally, the article describes the approach the Nutritional Support Service at St. Mary of the Plains Hospital uses in restoring patency to occluded enteral feeding tubes.