Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management.

Phelan-McDermid syndrome (PMS) is a rare, heterogeneous, and complex neurodevelopmental disorder. It is generally caused by a heterozygous microdeletion of contiguous genes located in the distal portion of the long arm of chromosome 22, including the SHANK3 gene. Sequence variants of SHANK3, including frameshift, nonsense mutations, small indels and splice site mutations also result in PMS. Furthermore, haploinsufficiency in SHANK3 has been suggested as the main cause of PMS. SHANK3 is also associated with intellectual disability, autism spectrum disorder and schizophrenia. The phenotype of PMS is variable, and lacks a distinctive phenotypic characteristic, so the clinical diagnosis should be confirmed by genetic analysis. PMS is a multi-system disorder, and clinical care must encompass various specialties and therapists. The role of risperidone, intranasal insulin, insulin growth factor 1, and oxytocin as potential therapeutic options in PMS will be discussed in this review. The diagnosis of PMS is important to provide an appropriate clinical evaluation, treatment, and genetic counseling.

An inactivated SARS-CoV-2 vaccine is safe and induces humoral and cellular immunity against virus variants in healthy children and adolescents in Chile

BackgroundMultiple vaccines against SARS-CoV-2 have been evaluated in clinical trials, but very few include the pediatric population. The inactivated vaccine CoronaVac(R) has shown to be safe and immunogenic in a phase 1/2 clinical trial in a pediatric cohort in China. This study is an interim safety and immunogenicity report of a phase 3 clinical trial for CoronaVac(R) in healthy children and adolescents in Chile. MethodsParticipants aged 3 to 17 years old received two doses of CoronaVac(R) in a four-week interval. Local and systemic adverse reactions were registered in 699 participants that received the first dose and 381 that received the second dose until December 31st, 2021. Whole blood samples were collected from 148 participants for humoral and cellular immunity analyses. ResultsThe primary adverse reaction reported after the first and second dose was pain at the injection site. The adverse reactions observed were primarily mild and local, and no severe adverse events were reported. Four weeks after the second dose, a significant increase in the levels of total and neutralizing antibodies was observed. Increased activation of specific CD4+ T cells was also observed four weeks after the second dose. Although antibodies induced by vaccination neutralize variants Delta and Omicron, titers were lower than the D614G variant. Importantly, comparable T cell responses were detected against these variants of concern. ConclusionsCoronaVac(R) is safe and immunogenic in subjects aged 3-17 years old and is thus likely to confer protection against infection caused by SARS-CoV-2 variants in this target population.

Incidencia de infecciones intrahospitalarias por procedimientos invasivos, en la Unidad de Cuidados Intensivos del Hospital Regional Ayacucho 2016 / Incidence of nosocomial infections by invasive procedures, in the Intensive Care Unit at the Regional Hospital Ayacucho 2016

Las infecciones intrahospitalarias hoy en día se considera un problema de salud pública importante ya que genera mayores gastos al estado y repercute negativamente en la recuperación del paciente, en este marco se ha desarrollado el presente estudio de investigación titulado "Incidencia de infecciones intrahospitalarias por procedimientos invasivos en la unidad de cuidados intensivos del Hospital Regional de Ayacucho" Objetivo: Determinar la incidencia de infecciones intrahospitalarias por procedimientos invasivos, en la unidad de cuidados intensivos del Hospital Regional de Ayacucho. Población: fue 371 pacientes hospitalizados en la unidad de cuidados intensivos del Hospital Regional de Ayacucho. Metodología: El presente estudio es tipo cuantitativo, de nivel aplicativo, método descriptivo, retrospectivo ya que se investiga datos de hechos pasados. Resultados: Del 100 por ciento (371) de pacientes con procedimientos invasivos, el 98,92 por ciento (367) no presentó ninguna infección intrahospitalaria mientras que el 1,08 por ciento (4) presentó infecciones intrahospitalarias por tubo endotraqueal.

Nosocomial infections today is considered a major public health because it generates higher costs to the state and a negative impact on patient recovery, in this framework has been developed in this research study entitled ôIncidence of nosocomial infections invasive procedures in the intensive care unit of the Regional Hospital of Ayacuchoõ. Objective: To determine the incidence of nosocomial infections invasive procedures in the intensive care unit of the Regional Hospital of Ayacucho. Population: 371 patients were hospitalized in the intensive care unit of the Regional Hospital of Ayacucho. Methodology: This study is quantitative, level application, descriptive, retrospective method since data from past events under investigation. Results: Of 100 per cent (371) of patients with invasive procedures, the 98.92 per cent (367) did not present any nosocomial infection while 1.08 per cent (4) had nosocomial infections endotracheal tube.