The effect of SARS-COV-2 variant on non-respiratory features and mortality among vaccinated and non-fully vaccinated patients.

OBJECTIVE: To determine the effect of SARS-CoV-2 variants on non-respiratory features of COVID-19 in vaccinated and not fully vaccinated patients using a University of California database. METHODS: A longitudinal retrospective review of medical records (n = 63,454) from 1/1/2020-4/26/2022 using the UCCORDS database was performed to compare non-respiratory features, vaccination status, and mortality between variants. Chi-square tests were used to study the relationship between categorical variables using a contingency matrix. RESULTS: Fever was the most common feature across all variants. Fever was significantly higher in not fully vaccinated during the Delta and Omicron waves (p = 0.001; p = 0.001). Cardiac features were statistically higher in not fully vaccinated during Omicron; tachycardia was only a feature of not fully vaccinated during Delta and Omicron; diabetes and GI reflux were features of all variants regardless of vaccine status. Odds of death were significantly increased among those not fully vaccinated in the Delta and Omicron variants (Delta OR: 1.64, p = 0.052; Omicron OR: 1.96, p < 0.01). Vaccination was associated with a decrease in the frequency of non-respiratory features. CONCLUSIONS: Risk of non-respiratory features of COVID-19 is statistically higher in those not fully vaccinated across all variants. Risk of death and correlation with vaccination status varied.

The absence of seroconversion after exposition to hepatitis C virus is not related to KIR-HLA genotype combinations (GEHEP-012 study).

BACKGROUND & AIMS: It has been reported that specific killer-cell immunoglobulin-like receptors (KIRs) and HLA genotype combinations, such as KIR2DS4/HLA-C1 with presence of KIRDL2 or KIRDL3, homozygous KIRDL3/HLA-C1 and KIR3DL1/≥2HLA-Bw4, are strongly associated with the lack of active infection and seroconversion after exposition to hepatitis C virus (HCV). OBJECTIVE: To determine whether these KIR-HLA combinations are relevant factors involved in that phenotype. PATIENTS AND METHODS: In this retrospective case-control study, genotype data from a genome-wide association study previously performed on low susceptibility to HCV-infection carried out on 27 high-risk HCV-seronegative (HRSN) individuals and 743 chronically infected (CI) subjects were used. HLA alleles were imputed using R package HIBAG v1.2223 and KIR genotypes were imputed using the online resource KIR*IMP v1.2.0. RESULTS: It was possible to successfully impute at least one KIR-HLA genotype combination previously associated with the lack of infection and seroconversion after exposition to HCV in a total of 23 (85.2%) HRSN individuals and in 650 (87.5%) CI subjects. No KIR-HLA genotype combination analyzed was related to the HRSN condition. CONCLUSIONS: Our results suggest that those KIR-HLA genotype combinations are not relevant factors involved in the lack of infection and seroconversion after exposition to HCV. More studies will be needed to completely understand this phenotype.

Hepatic Steatosis and Weight Gain During the Coronavirus Disease 2019 Pandemic Among People With Human Immunodeficiency Virus: Impact of Therapy With Tenofovir Alafenamide.

Background: Lockdown due to the coronavirus disease 2019 (COVID-19) pandemic led to increases in weight in part of the population. Weight gain leads to hepatic steatosis (HS). Antiretroviral treatment could also influence HS in people with human immunodeficiency virus (PWH). The impact of lockdown on HS in PWH is unknown. The aim of this study was to analyze the changes in HS, as measured by the controlled attenuation parameter (CAP), during the COVID-19 pandemic in PWH. Methods: This was a cohort study that included PWH who attended a tertiary care center in southern Spain from January 2018 to December 2021. The CAP was evaluated by transient elastography. Only those who had a valid CAP before and after March 2020 were included. HS was defined as CAP ≥248 dB/m. Results: Six hundred eighty PWH were attended and 488 (71.8%) were included. Two hundred and fourteen (43.9%) had HS at baseline and 239 (49%) at the end of the follow-up (P = .036). The median change in CAP among PWH taking tenofovir alafenamide (TAF) was 8.5 (interquartile range [IQR], -24 to 46.3) dB/m versus -4 (IQR, -35 to 27) dB/m among PWH receiving TAF-free regimens (P = .003). After multivariate analysis, adjusted by sex and age, weight gain (adjusted odds ratio [AOR], 1.09 [95% confidence interval {CI}, 1.05-1.14]; P < .001), TAF therapy (AOR, 1.59 [95% CI, 1.07-2.35]; P = .021), plasma triglycerides (AOR, 1.01 [95% CI, 1-1.01]; P < .001), and fasting blood glucose (AOR, 1.01 [95% CI, 1-1.02]; P = .027) were associated with HS at the end of follow-up. Conclusions: The frequency of HS increased during the COVID-19 pandemic among PWH. TAF is associated with HS development, regardless of metabolic factors.

Multidimensional Frailty and Traumatic Brain Injury among Older Adults: A Literature Review / Fragilidad multidimensional y lesión cerebral traumática en adultos mayores: Una revisión de la literature / Fragilidade multidimensional e traumatismo cranioencefálico em idosos: uma revisão da literatura

Background. Numerous health conditions in the older adult population can be attributed to falls, including traumatic brain injury (TBI), which can lead to devastating short and long-term sequelae. Older adults are also more likely to experience frailty, which encompasses physical, psychological, and social deficits that may lead to adverse health outcomes. Our literature review synthesizes current evidence for understanding frailty in the context of TBI among older adults using the Integral Model of Frailty as a framework. Content synthesis. A total of 32 articles were identified, and 9 articles were included. The results of this review indicate that outcomes resulting from TBI are closely linked to the physical, psychological, and social domains of frailty. Conclusions. A small amount of literature currently examines frailty in the context of TBI among older adults. Using the Integral Model of Frailty to Invest Educ Enferm. 2023; 41(2): e02Multidimensional Frailty and Traumatic Brain Injury among Older Adults:A Literature Reviewunderstand frailty in the context of TBI can help clinicians anticipate patient outcomes and improve care plans. We emphasize the need for a greater understanding of TBI concerning frailty to improve health outcomes among older adult patients.

Antecedentes. Numerosos trastornos de salud en la población de adultos mayores pueden atribuirse a las caídas, incluida la lesión cerebral traumática (LCT), que puede provocar secuelas devastadoras a corto y largo plazo. Los adultos mayores también son más propensos a experimentar fragilidad, que abarca déficits físicos, psicológicos y sociales que pueden conducir a resultados adversos para la salud. Nuestra revisión de la literatura sintetiza la evidencia actual para la comprensión de la fragilidad en el contexto de la LCT entre los adultos mayores utilizando el Modelo Integral de Fragilidad como marco. Síntesis del contenido. Un total de 32 artículos fueron identificados, y 9 artículos fueron incluidos. Los hallazgos de esta revisión indican que los resultados de la LCT están estrechamente relacionados con los dominios físico, psicológico y social de la fragilidad. Conclusión. Una pequeña cantidad de literatura examina actualmente la fragilidad en el contexto de la LCT entre los adultos mayores. Usar el Modelo Integral de Fragilidad para entender la fragilidad en el contexto de la LCT puede ayudar a los clínicos a anticipar los resultados de los pacientes y mejorar los planes de cuidados. Enfatizamos la necesidad de una mayor comprensión de la LCT en relación con la fragilidad para mejorar los resultados de salud entre los pacientes adultos mayores.

Antecedentes. Numerosos distúrbios de saúde na população idosa podem ser atribuídos a quedas, incluindo traumatismo cranioencefálico (TCE), que pode causar sequelas devastadoras a curto e longo prazo. Os idosos também são mais propensos a experimentar fragilidade, que engloba déficits físicos, psicológicos e sociais que podem levar a resultados adversos à saúde. Nossa revisão da literatura sintetiza as evidências atuais para entender a fragilidade no contexto do TCE entre idosos usando o Modelo Abrangente de Fragilidade como estrutura. Síntese de conteúdo. Um total de 32 artigos foram identificados e 9 artigos foram incluídos. As descobertas desta revisão indicam que os resultados do TCE estão intimamente relacionados aos domínios físico, psicológico e social da fragilidade. Conclusão.Um pequeno corpo de literatura atualmente examina a fragilidade no contexto do TCE entre adultos mais velhos. Usar o Modelo Abrangente de Fragilidade para entender a fragilidade no contexto do TCE pode ajudar os médicos a antecipar os resultados do paciente e melhorar os planos de tratamento. Enfatizamos a necessidade de uma maior compreensão do TCE em relação à fragilidade para melhorar os resultados de saúde entre pacientes idosos

SARS-CoV-2 viral RNA detection using the novel CoVradar device associated with the CoVreader smartphone app.

The COVID-19 pandemic has highlighted the need for innovative approaches to its diagnosis. Here we present CoVradar, a novel and simple colorimetric method that combines nucleic acid analysis with dynamic chemical labeling (DCL) technology and the Spin-Tube device to detect SARS-CoV-2 RNA in saliva samples. The assay includes a fragmentation step to increase the number of RNA templates for analysis, using abasic peptide nucleic acid probes (DGL probes) immobilized to nylon membranes in a specific dot pattern to capture RNA fragments. Duplexes are formed by labeling complementary RNA fragments with biotinylated SMART bases, which act as templates for DCL. Signals are generated by recognizing biotin with streptavidin alkaline phosphatase and incubating with a chromogenic substrate to produce a blue precipitate. CoVradar results are analysed by CoVreader, a smartphone-based image processing system that can display and interpret the blotch pattern. CoVradar and CoVreader provide a unique molecular assay capable of detecting SARS-CoV-2 viral RNA without the need for extraction, preamplification, or pre-labeling steps, offering advantages in terms of time (∼3 h/test), cost (∼€1/test manufacturing cost) and simplicity (does not require large equipment). This solution is also promising for developing assays for other infectious diseases.

The effect of SARS-CoV-2 variant on respiratory features and mortality.

SARS-CoV-2 (COVID-19) has caused over 80 million infections 973,000 deaths in the United States, and mutations are linked to increased transmissibility. This study aimed to determine the effect of SARS-CoV-2 variants on respiratory features, mortality, and to determine the effect of vaccination status. A retrospective review of medical records (n = 55,406 unique patients) using the University of California Health COvid Research Data Set (UC CORDS) was performed to identify respiratory features, vaccination status, and mortality from 01/01/2020 to 04/26/2022. Variants were identified using the CDC data tracker. Increased odds of death were observed amongst unvaccinated individuals and fully vaccinated, partially vaccinated, or individuals who received any vaccination during multiple waves of the pandemic. Vaccination status was associated with survival and a decreased frequency of many respiratory features. More recent SARS-CoV-2 variants show a reduction in lower respiratory tract features with an increase in upper respiratory tract features. Being fully vaccinated results in fewer respiratory features and higher odds of survival, supporting vaccination in preventing morbidity and mortality from COVID-19.

Multidimensional Frailty and Traumatic Brain Injury among Older Adults: A Literature Review.

Background: Numerous health conditions in the older adult population can be attributed to falls, including traumatic brain injury (TBI), which can lead to devastating short and long-term sequelae. Older adults are also more likely to experience frailty, which encompasses physical, psychological, and social deficits that may lead to adverse health outcomes. Our literature review synthesizes current evidence for understanding frailty in the context of TBI among older adults using the Integral Model of Frailty as a framework. Content Synthesis: A total of 32 articles were identified, and 9 articles were included. The results of this review indicate that outcomes resulting from TBI are closely linked to the physical, psychological, and social domains of frailty. Conclusions: A small amount of literature currently examines frailty in the context of TBI among older adults. Using the Integral Model of Frailty to understand frailty in the context of TBI can help clinicians anticipate patient outcomes and improve care plans. We emphasize the need for a greater understanding of TBI concerning frailty to improve health outcomes among older adult patients.

Screening and testing for latent tuberculosis infection among patients who are immunocompromised.

ABSTRACT: It is critical to detect latent tuberculosis infection through screening and testing individuals at high risk of progression to active tuberculosis, including patients who are immunocompromised. NPs should be familiar with available testing for accurate diagnosis in order to expedite treatment.

Barreras para la implementación del Método Mamá Canguro / Barriers for the implementation of Kangaroo mother care practice

Objetivo: Analizar y discutir las barreras de implementación del Método Mamá Canguro en un hospital del seguro social de Lima, Perú. Material y Métodos. Estudio cualitativo con diseño etnográfico realizado entre los meses de octubre 2019 y enero 2020. Observación y entrevistas a profundidad fueron las herramientas de recojo de información empleadas con madres, familiares y personal de salud (PS). Se entrevistaron a diez madres y ocho miembros del personal de salud de un hospital de la seguridad social en Lima, Perú. Resultados: Las barreras para la aplicación del método mamá canguro más resaltantes fueron las vinculadas al trato humano y al conocimiento del método por parte del personal de salud. De parte de las madres canguro son los aspectos económicos y familiares los que influyen negativamente en el involucramiento del método mamá canguro. Conclusiones: A pesar de la limitación de recursos hospitalarios, las madres manifestaron que llevar a cabo el método mamá canguro se dificulta principalmente por la débil relación con algunos miembros del personal de salud. Es importante invertir, como prioridad, en el capital humano involucrado para contribuir al traslado sostenible y efectivo del cuidado del bebé prematuro a un nivel domiciliario.

Objetives: Analyse and discuss the barriers to the implementation of the Kangaroo Mother Method (KMC) in a social security hospital in Lima, Peru. Material and Methods: Qualitative study with ethnographic design carried out between October 2019 and January 2020. Observation and in-depth interviews were the information collection tools used, conducted with mothers, family members, and health personnel (HCP). Results: The most outstanding barriers to the application of the KMC were those related to the humane treatment and knowledge about the KMC by health personnel. On the part of kangaroo mothers, it is the economic and family aspects that negatively influence their involvement in the MMC. Conclusions: Despite the limitation of hospital resources, the mothers stated that carrying out the KMC is challenging mainly due to the weak relationship with some members of the health personnel. It is important to invest, as a priority, in the human capital involved to contribute to the sustainable transfer and effective care of the premature baby at a household level.

Flypub To Study Ethanol Induced Behavioral Disinhibition and Sensitization.

Alcohol use disorder (AUD) remains a serious problem in our society. To develop effective interventions for addiction, it is important to understand the underlying neurobiological mechanisms, for which diverse experimental approaches and model systems are needed. The main ingredient of alcoholic beverages is ethanol, which causes adaptive changes in the central nervous system and behavior upon chronic intake. Behavioral sensitization (i.e., escalated responses) in particular represents a key adaptive change underlying addiction. Most ethanol-induced behavioral sensitization studies in animal models have been conducted on the locomotor activating effect of ethanol. A prominent effect of ethanol is behavioral disinhibition. Behavioral sensitization to the disinhibition effect of ethanol, however, is underrepresented. To address this issue, we developed the Flypub assay that allows measuring the escalated increase in disinhibited courtship activities upon recurring ethanol exposure in Drosophila melanogaster. Here, we report the step-by-step Flypub assay including assembly of ethanol exposure chambers, setup of the assay station, criteria for fly care and collection, ethanol delivery, quantification of disinhibited courtship activities, data processing and statistical analysis. Also provided are how to troubleshoot critical steps, overcome limitations and expand its utility to assess additional ethanol-induced behaviors. The Flypub assay in combination with powerful genetic tools in Drosophila melanogaster will facilitate the task of discovering the mechanism underlying ethanol-induced behavioral sensitization.

Tumor Resection Induces Alterations on Serum Phospholipidome of Liver Cancer Patients.

Hepatocellular carcinoma and cholangiocarcinoma are the most common primary malignant liver tumors. Since the liver plays a key role in lipid metabolism, the study of serum phospholipid (PL) profiles may provide a better understanding of alterations in hepatic lipid metabolism. In this study, we used a high-resolution HILIC-LC-MS lipidomic approach to establish the serum phospholipidome profile of patients with liver cancer before (T0) and after tumor resection (T1) and a control group (CT) of healthy individuals. After the analysis of PL profiles, we observed that the phospholipidome of patients with liver cancer was significantly modified after the tumor resection procedure. We observed an upregulation of some phosphatidylcholine (PtdCho) species, namely, PtdCho(36:6), PtdCho(42:6), PtdCho(38:5), PtdCho(36:5), PtdCho(38:6) and choline plasmalogens (PlsCho), and/or 1-O-alkyl-2-acyl-glycerophosphocholine (PakCho) in patients with liver cancer at T0 compared to the CT group, and a downregulation after tumor resection (T1) when compared to T0. These results show that LC-MS can detect different serum PL profiles in patients with liver cancer, before and after tumor resection, by defining a specific PL fingerprint that was used to determine the effect of tumor and tumor resection on lipid metabolism.

Functional Impairment of Circulating FcεRI+ Monocytes and Myeloid Dendritic Cells in Hepatocellular Carcinoma and Cholangiocarcinoma Patients.

BACKGROUND: Hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA) represent the most common primary liver malignancies whose outcome is influenced by the immune response. METHODS: In this study, we have functionally characterized, by flow cytometry, circulating myeloid dendritic cells (mDCs) and FcεRI+ monocytes in a group of healthy individuals (n = 10) and in a group of patients with HCC (n = 19) and CCA (n = 8), at the time point of the surgical resection (T0) and once the patient had recovered from surgery (T1). Moreover, we proceeded to a more in depth phenotypic characterization of the FcεRI+ monocyte subpopulation. RESULTS: A significant decrease in the frequency of TNFα producing FcεRI+ monocytes and mDCs in HCC and CCA patients when compared to the group of healthy individuals was observed, and a close association between FcεRI+ monocytes and mDCs dysfunction was identified. In addition, the phenotypic characteristics of FcεRI+ monocytes from healthy individuals strongly suggest that this population drives to mDCs, which matches with the fact that both populations are functionally affected. CONCLUSIONS: The frequency and the function of circulating mDCs and FcεRI+ monocytes are affected in both HCC and CCA patients, and FcεRI+ monocytes could represent those fated to become mDCs. © 2019 International Clinical Cytometry Society.

Conocimientos y Práctica de Reanimación Neonatal de Enfermeras de Neonatología del Hospital Regional Docente Cajamarca / Knowledge and Practice of Neonatal Resuscitation of Neonatology Nurses of the Teaching Regional Hospital Cajamarca

INTRODUCCIÓN. La asfixia es causa de morbimortalidad neonatal, deja secuelas motoras y cognitivas. Las enfermeras atienden a recién nacidos desde el nacimiento, participan en su reanimación para evitar las implicancias que aquella conlleva. OBJETIVO. Evaluar conocimientos y práctica de reanimación neonatal de las enfermeras del Servicio de Neonatología, Hospital Regional Docente de Cajamarca. MATERIALES Y MÉTODOS. Estudio descriptivo, transversal, en enfermeras que firmaron el consentimiento informado. Se usó un cuestionario y lista de cotejo. RESULTADOS. El 22,9% de enfermeras obtuvieron más del 80% de respuestas correctas en el cuestionario, dentro de ellas el 22,6% con especialidad en Neonatología, el 50% en Cuidados Intensivos Neonatales y sólo el 10% sin especialidad; el 16,7% de las enfermeras de la subunidad de Atención Inmediata, el 10% de Intermedios, y el 44% de la Unidad de Cuidados Intensivos Neonatal aprobaron el cuestionario. Más de la mitad de las que alcanzaron el puntaje establecido estuvieron entre los 35 y 43 años de edad, y con tiempo de labor en el Servicio de Neonatología entre 0 y 5 años; todas las enfermeras que aprobaron tuvieron al menos una capacitación en reanimación neonatal. El puntaje promedio de conocimientos y práctica de reanimación fue de 19,5 puntos y 10,0 puntos respectivamente. CONCLUSIÓN. Los conocimientos de reanimación cardiopulmonar neonatal de las enfermeras fueron óptimos en casi la quinta parte de ellas mientras que la práctica fue sub óptima en todas.

INTRODUCTION. Asphyxia is a cause of neonatal morbidity and mortality, leaving motor and cognitive sequelae. Nurses attend to newborns from birth, participate in their resuscitation to avoid the implications that this entails. OBJECTIVE. WedxTo evaluate knowledge and practice of neonatal resuscitation of nurses of the Neonatology Service, Regional Teaching Hospital of Cajamarca. MATERIALS AND METHODS. Descriptive, cross-sectional study in nurses who signed informed consent. A questionnaire and checklist was used. RESULTS. 22,9% of nurses obtained more than 80% of correct answers in the questionnaire , among them 22,6% with specialty in neonatology, 50% in Neonatal Intensive Care and only 10% without specialty; 16,7% of nurses in the Immediate Care Sub-Unit, 10% of Intermedios, and 44% of the Neonatal Intensive Care Unit approved the questionnaire. More than half of those who reached the established score were between 35 and 43 years old, and with work time in the Neonatology Service between 0 and 5 years; All the nurses who passed had at least one training in neonatal resuscitation. The average knowledge score and resuscitation practice was 19,5 and 10,0 points respectively. CONCLUSION. The knowledge of neonatal cardiopulmonary resuscitation of nurses was optimal in almost a fifth of them while the practice was sub optimal in all.

Subcutaneous immunotherapy induces alterations in monocytes and dendritic cells homeostasis in allergic rhinitis patients.

BACKGROUND: Specific subcutaneous immunotherapy (SCIT) can achieve long-term remission in patients with allergic rhinitis (AR) through complex and still unknown mechanisms. The aim of this study is to evaluate the effect of SCIT over CD16+ and CD16- monocytes, myeloid (mDCs) and plasmacytoid dendritic cells (pDCs) in patients with AR, comparatively to pharmacological standard treatment (non-SIT). METHODS: The relative frequency and absolute number of monocytes and DC subsets, the frequency of these cells producing TNFα after in vitro stimulation with Dermatophagoides pteronyssinus (Dpt) extract, and the expression levels of receptor-bound IgE or IgG were assessed by flow cytometry, in peripheral blood samples from 23 healthy individuals (HG) and 43 participants with AR mono-sensitized to Dpt; 10 with non-SIT treatment and 33 under SCIT, just before (SCIT-T0) and 4 h after administration (SCIT-T4). Moreover, IFNα mRNA expression was evaluated in purified pDCs, by qRT-PCR. RESULTS: After SCIT administration we observed a strong decrease of circulating pDCs, although accompanied by higher levels of IFNα mRNA expression, and an increase of circulating CD16+ monocytes. AR participants under SCIT exhibited a higher expression of receptor-bound IgE in all cell populations that expressed the high affinity receptor for IgE (FcεRI) and a higher frequency of CD16+ monocytes producing TNFα. Conversely, we observed a decrease in the frequency of mDCs producing TNFα in AR under SCIT, similar to the observed in the control group. CONCLUSIONS: SCIT seems to induce numeric, phenotypic, and functional changes in circulating monocytes and dendritic cells, contributing at least in part to the well described immunological alterations induced by this type of immunotherapy.

Modulation of the inflammatory response of immune cells in human peripheral blood by oxidized arachidonoyl aminophospholipids.

Aminophospholipids (APL), phosphatidylethanolamine (PE) and phosphatidylserine (PS), can be oxidized upon oxidative stress. Oxidized PE and PS have been detected in clinical samples of different pathologies and may act as modulators of the inflammatory response. However, few studies have focused on the effects of oxidized APL (ox-APL) esterified with arachidonic acid, even though a considerable number of studies have assessed the modulation of the immune system by oxidized 1-palmitoyl-2-arachidonoyl-sn-3-glycerophosphocholine (OxPAPC). In the present study, we have used flow cytometry to evaluate the ability of oxidized PAPE (OxPAPE) and PAPS (OxPAPS) to promote or suppress an inflammatory phenotype on monocytes subsets and myeloid dendritic cells (mDCs). The results indicate that OxPAPE increases the frequency of all monocyte subpopulations expressing TNF-α, which promotes an inflammatory response. However, immune cell stimulation with OxPAPE in the presence of LPS results in a decrease of TNF-α expressed by classical monocytes. Incubation with OxPAPS and LPS induces a decrease in TNF-α produced by monocytes, and a significant decrease in IL-1ß expressed by monocytes and mDCs, indicating that OxPAPS reduces the LPS-induced pro-inflammatory expression in these populations. These results show the importance of OxPAPE and OxPAPS as modulators of the inflammatory response and demonstrate their possible contribution to the onset and resolution of human diseases related to oxidative stress and inflammation.

Secuelas del neurodesarrollo de recién nacidos prematuros de extremadamente bajo peso y de muy bajo peso a los dos años de edad, egresados de la Unidad de Cuidados Intensivos Neonatales del Hospital Nacional Edgardo Rebagliati Martins 2009-2014 / Neurodevelopmental sequelae in premature newborns with extremely low weight and with very low weight at two years of age who left the Neonatal Intensive Care Unit of the Hospital Nacional Edgardo Rebagliati Martins 2009-2014

Objetivo: Describir las secuelas del neurodesarrollo de los recién nacidos prematuros de extremadamente bajo peso y de muy bajo peso a los dos años de edad, egresados de la Unidad de Cuidados Intensivos Neonatales del Hospital Nacional Edgardo Rebagliati Martins. Materiales y métodos: Estudio descriptivo, retrospectivo, transversal en una población de 190 prematuros de extremadamente bajo peso y de muy bajo peso que nacieron durante enero 2009 a junio del 2014, egresados de la Unidad de Cuidados Intensivos Neonatales, que asistieron al programa de seguimiento. Se evaluaron el desarrollo psicomotor, hipoacusia neurosensorial, retinopatía de la prematuridad, presencia de parálisis cerebral y síndrome convulsivo. Resultados: El promedio de peso al nacimiento fue 1.180,53 ± 212,40 gramos con edad gestacional de 29,86 ± 2,33 semanas, y el 51,58% fue de sexo masculino. El 42,63% de los recién nacidos prematuros de muy bajo peso presentó retraso del desarrollo psicomotor; el 25,26%, retinopatía; el 13,68%, hipoacusia neurosensorial; el 3,68%, parálisis cerebral; y el 3,68%, síndrome convulsivo. El 52,27% de los recién nacidos prematuros de extremadamente bajo peso presentó retraso en el desarrollo psicomotor; el 50%, retinopatía; el 15,91%, hipoacusia neurosensorial; y el 2,27%, síndrome convulsivo. Conclusiones: El retraso del desarrollo psicomotor y la retinopatía fueron las complicaciones más importantes que presentaron los recién nacidos prematuros de extremadamente bajo peso y los recién nacidos prematuros de muy bajo a los dos años de edad.

Objective: The purpose of this study is to describe the neurodevelopmental sequelae in premature newborns with extremely low weight and with very low weight at two years of age who left the Neonatal Intensive Care Unit of the Hospital Nacional Edgardo Rebagliati Martins. Materials and methods: A descriptive, retrospective, cross-sectional study in a population of 190 premature newborns with extremely low weight and with very low weight born from January 2009 to June 2014 who left the Neonatal Intensive Care Unit and took part in the follow-up program. The psychomotor development, sensorineural hearing loss, retinopathy of prematurity, presence of cerebral palsy and convulsive syndrome were assessed. Results: The average weight at birth was 1,180.53 ± 212.40 grams with a gestational age of 29.86 ± 2.33 weeks, and 51.58% of the newborns were male. Forty-two point six three percent (42.63%) of the premature newborns with very low weight showed retardation of psychomotor development; 25.26%, retinopathy; 13.68%, sensorineural hearing loss; 3.68%, cerebral palsy; and 3.68%, convulsive syndrome. Fifty-two point two seven percent (52.27%) of the premature newborns with extremely low weight showed retardation of psychomotor development; 50%, retinopathy; 15.91%, sensorineural hearing loss; and 2.27%, convulsive syndrome. Conclusions: Retardation of psychomotor development and retinopathy were the most important complications shown by premature newborns with extremely low weight and with very low weight at two years of age.

Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's disease.

Autosomal dominant (AD) familial Meniere's disease (FMD) is a rare disorder involving the inner ear defined by sensorineural hearing loss, tinnitus and episodic vertigo. Here, we have identified two novel and rare heterozygous variants in the SEMA3D and DPT genes segregating with the complete phenotype that have variable expressivity in two pedigrees with AD-FMD. A detailed characterization of the phenotype within each family illustrates the clinical heterogeneity in the onset and progression of the disease. We also showed the expression of both genes in the human cochlea and performed in silico analyses of these variants. Three-dimensional protein modelling showed changes in the structure of the protein indicating potential physical interactions. These results confirm a genetic heterogeneity in FMD with incomplete penetrance and variable expressivity.

A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease.

Meniere's Disease (MD) is a complex disorder associated with an accumulation of endolymph in the membranous labyrinth in the inner ear. It is characterized by recurrent attacks of spontaneous vertigo associated with sensorineural hearing loss (SNHL) and tinnitus. The SNHL usually starts at low and medium frequencies with a variable progression to high frequencies. We identified a novel missense variant in the PRKCB gene in a Spanish family with MD segregating low-to-middle frequency SNHL. Confocal imaging showed strong PKCB II protein labelling in non-sensory cells, the tectal cells and inner border cells of the rat organ of Corti with a tonotopic expression gradient. The PKCB II signal was more pronounced in the apical turn of the cochlea when compared with the middle and basal turns. It was also much higher in cochlear tissue than in vestibular tissue. Taken together, our findings identify PRKCB gene as a novel candidate gene for familial MD and its expression gradient in supporting cells of the organ of Corti deserves attention, given the role of supporting cells in K+ recycling within the endolymph, and its apical turn location may explain the onset of hearing loss at low frequencies in MD.

Configuración identitaria en jóvenes tras la desaparición forzada de un familiar / Configuration of identities of young people after a relative’s enforced disappearance

En este trabajo investigamos la configuración identitaria en jóvenes que vivieron en su infancia la desaparición forzada de un familiar, a través de un estudio cualitativo adelantado desde la perspectiva teórica del construccionismo social. Tomamos la narración autobiográfica de siete jóvenes -cuatro mujeres y tres hombres-, y de cinco familiares (madres y abuelas). Encontramos que la identidad de estas personas jóvenes se configura en un contexto social violento, en el cual las prácticas sociales se tejen en relación con la desaparición, en medio de una familia que se ha reconfigurado por la incertidumbre que produce la ausencia del cuerpo, y por el ocultamiento del evento tras un imperativo social de silenciar el hecho. Se evidencian dos tendencias en la configuración identitaria: una orientada a la reconstrucción, y otra a la pérdida...

Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease.

Meniere's disease (MD) is a chronic disorder of the inner ear defined by sensorineural hearing loss, tinnitus and episodic vertigo, and familial MD is observed in 5-15% of sporadic cases. Although its pathophysiology is largely unknown, studies in human temporal bones have found an accumulation of endolymph in the scala media of the cochlea. By whole-exome sequencing, we have identified two novel heterozygous single-nucleotide variants in FAM136A and DTNA genes, both in a Spanish family with three affected cases in consecutive generations, highly suggestive of autosomal-dominant inheritance. The nonsense mutation in the FAM136A gene leads to a stop codon that disrupts the FAM136A protein product. Sequencing revealed two mRNA transcripts of FAM136A in lymphoblasts from patients, which were confirmed by immunoblotting. Carriers of the FAM136A mutation showed a significant decrease in the expression level of both transcripts in lymphoblastoid cell lines. The missense mutation in the DTNA gene produces a novel splice site which skips exon 21 and leads to a shorter alternative transcript. We also demonstrated that FAM136A and DTNA proteins are expressed in the neurosensorial epithelium of the crista ampullaris of the rat by immunohistochemistry. While FAM136A encodes a mitochondrial protein with unknown function, DTNA encodes a cytoskeleton-interacting membrane protein involved in the formation and stability of synapses with a crucial role in the permeability of the blood-brain barrier. Neither of these genes has been described in patients with hearing loss, FAM136A and DTNA being candidate gene for familiar MD.