Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.

Rare diseases affect millions of people worldwide, and most have a genetic etiology. The incorporation of next-generation sequencing into clinical settings, particularly exome and genome sequencing, has resulted in an unprecedented improvement in diagnosis and discovery in the past decade. Nevertheless, these tools are unavailable in many countries, increasing health care gaps between high- and low-and-middle-income countries and prolonging the "diagnostic odyssey" for patients.

[Pediatric pulmonary rehabilitation in the light of qualitative research: What statistic cannot show].

Unlabelled: Several studies have supported the positive effect of respiratory rehabilitation (RR) in children and adolescents (CRA) with chronic respiratory diseases (CRD); however, qualitative aspects related to the experiences and perceptions about RR have been scarcely studied.

Objective: to analyze the qualitative evidence regarding the perceptions and experiences of patients, families and professionals related to the RR of children and adolescents with CKD.

Methods: Review of qualitative studies in 5 databases.

[Heart rate variability in children: methodological issues and clinical applications].

Heart rate variability (HRV) corresponds to variations in heart rate or beat-beat time interval. This parameter reflects the status of the autonomic mechanisms of cardiovascular control, which may be influenced by changes characteristic of the life cycle of people, sedentary lifestyle, and various disease processes that directly or indirectly generate changes in the HRV and shift the autonomic balance, either towards greater sympathetic or parasympathetic influence on the heart. These antecedents support the use of HRV indices for the diagnosis and monitoring of various nosological entities in adults.

Assessment of EPInfant scale for exercise intensity perceptual self-regulation in healthy children.

Introduction: The EPInfant scale has been validated for the perceptual estimation of physical exer tion in Chilean children, but its usefulness for self-regulation of exercise intensity is unknown. The objective of the study was to evaluate the criterion validity of the EPInfant scale to regulate and re produce exercise intensity in a sample of healthy children.

Subjects And Method: 15 children between the ages of eight and 12 were selected for an incremental exercise test (IET) and three perceptually regulated exercise tests (PRET) on a treadmill.

Plasma from Patients with Rheumatoid Arthritis Reduces Nitric Oxide Synthesis and Induces Reactive Oxygen Species in A Cell-Based Biosensor.

Rheumatoid arthritis (RA) has been associated with a higher risk of developing cardiovascular (CV) diseases. It has been proposed that systemic inflammation plays a key role in premature atherosclerosis development, and is therefore crucial to determine whether systemic components from RA patients promotes endothelial cell-oxidative stress by affecting reactive oxygen species (ROS) and nitric-oxide (NO) production. The aim of this study was to evaluate whether plasma from RA patients impair NO synthesis and ROS production by using the cell-line ECV-304 as a biosensor.

[Characterization of celiac disease in chilean public hospitals].

Introduction: The worldwide prevalence of celiac disease (CD) is ~1% of the population. In Chile, the National Health Survey 2009-2010 showed a serological prevalence in individuals older than 15 years of 0.76% (IgA-tTG2), which corresponded in Concepción to 0.

[Blastic plasmacytoid dendritic cell neoplasm with complete clinical remission with chemotherapy and central nervous system relapse: Report of one case].

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, clinically aggressive hematologic malignancy that most commonly manifests as cutaneous lesions with or without bone marrow involvement and leukemic dissemination. The demonstration of tumor cells with the characteristic immunophenotype with expression of CD56, generally CD4 and dendritic cell antigens (CD123, cyTCL-1, HLA-DR), in the absence of myeloid or lymphoid lineage markers is required for the diagnosis. Responses to chemotherapy are initially satisfactory, with frequent systemic and central nervous system relapses.

Development and assessment of EPInfant: a rating scale of perceived exertion for the pediatric population.

Rating scales of perceived exertion (PE) have been used to measure PE during exercise in the adult population with successful results. However, in children, it is necessary to develop adapted instruments due to their cognitive immaturity. The number of Spanish-language validated instruments for the pediatric population is scarce.

[Doege-Potter syndrome: hypoglycemia secondary to solitary fibrous tumor of the pleura. Report of one case].

Doege-Potter syndrome is characterized for hypoglycemia associated with solitary pleural fibrous tumors. We report a 38-year-old woman with a history of weight loss, malaise and edema. After an episode of symptomatic hypoglycemia, she was admitted to the hospital, where she had new episodes of hypoglycemia.

[Spontaneous closure of a residual fistula after surgical closure of a traumatic aorto-right ventricular fístula. Report of one case].

We report a 16-year-old boy, who suffered a right vent ride penetrating injury caused by a sharp blade that evolved to cardiac tampon. He underwent surgery and was discharged four days later. Thirteen days later, a cardiac murmur was found.