Did our cochlear implant program make any difference in the lives of our patients? Achievements of 30 patients with long term follow-up averaging 20 years after cochlear implantation.

BACKGROUND: Cochlear implants are standard of care for the patients with sensorineural hearing loss not benefited from hearing aids. AIMS: Evaluate qualitatively the impact of cochlear implantation in the long-term. MATERIALS-METHODS: Thirty middle-class patients with similar patterns of loss and social environment averaging 20 years post-implantation responded to 52 questions that evaluated psychosocial benefits from cochlear implantation. RESULTS: All completed secondary education and 93% had postgraduate studies. Educational and workwise they are at the same level as their hearing counterparts. All use their cochlear implants and would recommend one to people who need it. They attribute their success to the implant, the rehabilitation program, their family, and a stimulating social environment. Despite their success, most experience difficulties relating with others (socially and at work) due to their hearing condition. They manage but work much harder than their hearing peers to achieve the same. CONCLUSIONS: We made a difference in the lives of these patients, however, there is more to be done. SIGNIFICANCE: Early intervention, rehabilitation, plus family, and stimulating-environment are crucial in children with sensory deficits.

Clinical performance of the Osia™ system, a new active osseointegrated implant system. Results from a prospective clinical investigation.

Background: Bone-conduction hearing implants are standard of care devices.Aims/Objectives: Evaluation of a new active magnetic bone-conduction hearing implant: Cochlear Osia™ system.Material and methods: This device uses a transcutaneous connection between an external sound-processor and an osseointegrated implant that generates vibrations using a piezoelectricity-based internal bone-conduction system. Nine patients with conductive-hearing loss were implanted. Surgical efficacy, hearing performance and quality-of-life were evaluated. Hearing performance in quiet and in noise was compared with unaided hearing and hearing with the Baha 5 Power® Sound Processor on a softband.Results: Surgery and healing were uneventful. Statistically significant improvements in audibility, speech-understanding, speech-recognition and quality-of-sound in noise and quiet were found for the Osia™ compared to preoperative unaided hearing and aided hearing with the Baha 5 Power® Sound Processor on a softband. The active vibration system provided improvement at low and high frequencies. At 6 months postoperatively, all patients continue to use the device.Conclusions and significance: The Osia™ is safe and effective, improving speech-recognition in quiet and in noise, at low and high frequencies, thus delivering better quality-of-hearing than passive devices.

Comportamiento de los niveles de troponina I de alta sensibilidad en pacientes con enfermedad renal crónica estadio 5 en hemodiálisis / Behavior of high sensitivity Troponin I levels in patients with chronic kidney disease stage 5 on hemodialysis

Resumen Introducción: los pacientes con enfermedad renal crónica (ERC) tienen mayor prevalência de elevación de troponina, incluso en ausencia de síndrome coronario agudo. El objetivo de este estudio fue evaluar el comportamiento de la troponina I ultrasensible en pacientes con ERC antes y después de una sesión de hemodiálisis. Diseño: pseudoexperimento. Metodología: se incluyeron pacientes mayores de 18 años con ERC estadio 5 en hemodiálisis. Pacientes con condición cardiaca activa, uso de dispositivo cardiaco, intervención coronaria percutánea o historia de cirugía cardiaca se excluyeron del estudio. Los valores de troponinas superiores al percentil 99° fueron considerados positivos antes de la hemodiálisis y una elevación de más del 20% fue considerada positiva de acuerdo con la definición universal de infarto de miocardio. Todos los pacientes firmaron un consentimiento informado. Resultados: se incluyeron 33 pacientes con edad promedio de 56 años. Un paciente presentó troponina elevada antes (3%) y dos pacientes la elevaron después de la diálisis (6%). No hubo diferencias estadísticas entre ambos grupos (p-valor 0.8506). El mismo paciente que aumentó la troponina antes la elevó posdiálisis, lo que significa que sólo un paciente elevó troponina durante la sesión de hemodiálisis. Conclusión: se encontró una baja incidencia de troponina I anormal en pacientes con ERC en hemodiálisis con una diferencia no significativa de elevación asociada a la diálisis. No hubo relación con comorbilidades. Estos resultados demuestran la importancia de interpretar las elevaciones de troponina como una condición de riesgo sin considerar su elevación como consecuencia de su enfermedad renal. (Acta Med Colomb 2017; 42: 210-214).

Abstract Introduction: patients with chronic kidney disease (CKD) have a higher prevalence of troponin elevation, even in the absence of acute coronary syndrome. The objective of this study was to evaluate the behavior of ultrasensitive troponin I in patients with CKD before and after a hemodialysis session. Design: pseudoexperiment. Methodology: patients older than 18 years with stage 5 CKD in hemodialysis were included. Patients with active heart condition, cardiac device use, percutaneous coronary intervention or history of cardiac surgery were excluded from the study. Troponin values above the 99th percentile were considered positive before hemodialysis and an elevation of more than 20% was considered positive according to the universal definition of myocardial infarction. All patients signed an informed consent. Results: 33 patients with an average age of 56 years were included. One patient presented high troponin before (3%) and two patients had it elevated after dialysis (6%). There were no statistical differences between the two groups (p-value 0.8506). The same patient with increased troponin before, elevated it after dialysis, which means that only one patient raised troponin during the hemodialysis session. Conclusion: a low incidence of abnormal troponin I was found in patients with CKD on hemodialysis with a non-significant difference in elevation associated with dialysis. There was no relationship with comorbidities. These results demonstrate the importance of interpreting troponin elevations as a risk condition without considering its elevation as a consequence of kidney disease. (Acta Med Colomb 2017; 42: 210-214).

Protein kinase VRK-1 regulates cell invasion and EGL-17/FGF signaling in Caenorhabditis elegans.

The vaccinia-related kinases (VRKs) are highly conserved throughout the animal kingdom and phosphorylate several chromatin proteins and transcription factors. In early Caenorhabditis elegans embryos, VRK-1 is required for proper nuclear envelope formation. In this work, we present the first investigation of the developmental role of VRKs by means of a novel C. elegans vrk-1 mutant allele. We found that VRK-1 is essential in hermaphrodites for formation of the vulva, uterus, and utse and for development and maintenance of the somatic gonad and thus the germ line. VRK-1 regulates anchor cell polarity and the timing of anchor cell invasion through the basement membranes separating vulval and somatic gonadal cells during the L3 larval stage. VRK-1 is also required for proper specification and proliferation of uterine cells and sex myoblasts. Expression of the fibroblast growth factor-like protein EGL-17 and its receptor EGL-15 is reduced in vrk-1 mutants, suggesting that VRK-1 might act at least partially through activation of FGF signaling. Expression of a translational VRK-1Colon, two colonsGFP fusion protein in the ventral nerve cord and vulva precursor cells restores vulva and uterus formation, suggesting both cell autonomous and non-autonomous roles of VRK-1.

The Xenopus Irx genes are essential for neural patterning and define the border between prethalamus and thalamus through mutual antagonism with the anterior repressors Fezf and Arx.

The Iroquois (Irx) genes encode homeoproteins conserved during evolution. Vertebrate genomes contain six Irx genes organized in two clusters, IrxA (which harbors Irx1, Irx2 and Irx4) and IrxB (which harbors Irx3, Irx5 and Irx6). To determine the precise role of these genes during development and their putative redundancies, we conducted a comparative expression analysis and a comprehensive loss-of-function study of all the early expressed Irx genes (Irx1-5) using specific morpholinos in Xenopus. We found that the five Irx genes display largely overlapping expression patterns and contribute to neural patterning. All Irx genes are required for proper formation of posterior forebrain, midbrain, hindbrain and, to a lesser an extent, spinal cord. Nevertheless, Irx1 and Irx3 seem to have a predominant role during regionalization of the neural plate. In addition, we find that the common anterior limit of Irx gene expression, which will correspond to the future border between the prethalamus and thalamus, is defined by mutual repression between Fezf and Irx proteins. This mutual repression is likely direct. Finally, we show that Arx, another anteriorly expressed repressor, also contribute to delineate the anterior border of Irx expression.

A dual requirement for Iroquois genes during Xenopus kidney development.

The Iroquois (Irx) genes encode evolutionary conserved homeoproteins. We report that Xenopus genes Irx1 and Irx3 are expressed and required during different stages of Xenopus pronephros development. They are initially expressed during mid-neurulation in domains extending over most of the prospective pronephric territory. Expression onset takes place after kidney anlage specification, but before pronephric organogenesis occurs. Later, during nephron segmentation, expression becomes restricted to the intermediate tubule region of the proximal-distal axis. Loss- and gain-of-function analyses, performed with specific morpholinos and inducible wild-type and dominant-negative constructs, reveal a dual requirement for Irx1 and Irx3 during pronephros development. During neurula stages, these genes maintain the specification of the pronephric territory and define its size. This seems to occur, at least in part, through positive regulation of Bmp signalling. Subsequently, Irx genes are required for proper formation of the intermediate tubule. Finally, we find that retinoic acid signalling activates both Irx1 and Irx3 genes in the pronephros.

Utilidad de la ferritina sérica en el diagnóstico de pacientes con artritis reumatoide juvenil de tipo sistémico / Usefullness of serum ferritin in the diagnosis of patients with systemic juvenile rheumatoid arthritis

Objetivo. Determinar la utilidad de la ferritina sérica en el diagnóstico de pacientes con artritis reumatoide juvenil de tipo sistémico (Enfermedad de Still). Métodos. Realizamos un estudio descriptivo prospectivo con 15 pacientes menores de 16 años que cumplían con los criterios diagnósticos de Durban para artritis idiopática juvenil de tipo sistémico, en los cuales se determinó el nivel sérico de ferritina, clasificándolo como normal o elevado según la edad y correlacionándolo con las manifestaciones clínicas de la enfermedad. Para el análisis estadístico se usó STATISTCA 98. Se buscaron asociaciones de ferritina con otras variables mediante la prueba de Fisher-Freeman-Halton y el paquete estadístico Starxact 4.0 y se correlacionaron con edad y tiempo de evolución por el coeficiente de correlación de Spearman. Resultados. De los 15 pacientes evaluados 11 fueron niños (73,3 por ciento) y 4 niñas (26,6 por ciento), con edades entre 2 y 15 años (promedio 8,7 +/- 4,2). Aunque los valores de ferritina sérica presentaron una gran variabilidad 59 - 27.000 ng/ml (promedio de 3.991 +/- 7.181 ), el 93.3 por ciento de los pacientes (14/15) tenían niveles por encima del normal para la edad, y de estos el 78,5 por ciento (11/14) demostraron valores 5 o más veces por encima del normal. No se encontraron asociaciones significativas con otras variables. Conclusión. Los niveles de ferritina serica anormalmente elevados, según la edad, parece tener alguna utilidad diagnóstica en pacientes menores de 16 años con enfermedad de Still, tal como se ha reportado en adultos afectados por esta y puede ser en nuestra población una ayuda importante

Gremlin - a putative pathogenic player in progressive renal disease.

Progressive renal fibrosis is the end process of renal injury leading to kidney failure. Current therapies for chronic renal failure aim to slow this process but fail to halt its progression. As the mechanisms involved in glomerulosclerosis and tubulointerstitial fibrosis are unravelled, potential treatments for this growing clinical problem should emerge. Gremlin, a developmental regulator of bone morphogenetic proteins (BMPs), has recently been implicated in processes such as glomerulosclerosis, tubulointerstitial fibrosis and cellular hypertrophy, and may represent a novel therapeutic target in progressive renal diseases.