INFEKCIJSKE BOLEZNI PRI OTROKU Jagodic Bašič, Veronika; Berkopec, Tanja; Prodanović, Nina ...
Slovenska pediatrija,
05/2022, Letnik:
29, Številka:
2
Journal Article
Recenzirano
Odprti dostop
Nalezljive bolezni povzroča širjenje mikroorganizmov (bakterij, virusov, gliv ali parazitov) ali prionov na ljudi z drugih ljudi, živali ali okolja. Okužbe se prenašajo kontaktno, kapljično ali ...aerogeno. Prenašajo se neposredno s človeka na človeka, preko okuženih predmetov, z uživanjem kontaminirane hrane ali pijače, s stikom s kontaminiranimi telesnimi tekočinami in z ugrizom ali pikom živali. V prispevku opisujemo zdravstveno obravnavo pri Lymski boreliozi in klopnem meningoencefalitisu, mišji mrzlici, ter okužbah povzročenih z virusom ošpic ter virusom varicella zoster virus. Številne nalezljive bolezni, kot so ošpice in norice, lahko preprečimo s cepivi. V bolnišničnem okolju moramo izvajati postopke aerogene izolacije. če okuženi ne potrebuje hospitalizacije, se mora izolirati v domačem okolju. Pri boleznih, ki jih prenašajo živali, upoštevamo preventivne ukrepe. Ozaveščanje prebivalcev o pomembnosti zaščite pred vbodom klopa in dosledno samopregledovanje sta ključnega pomena za zmanjševanje šte-vila okuženih z Lymsko boreliozo in klopnim meningoencefalitisom. Preventivno ravnanje proti mišji mrzlici je zaščita pred vdihovanjem aerosolov. Za zaščito proti klopnemu meningoencefalitisu je na voljo cepivo, ki ga priporočamo otrokom od prvega leta dalje. Zaradi vojne v Ukrajini in velikega števila razseljenih je možen porast okužb s tuberkulozo in ošpicami ter multirezistentnimi bakterijami. Pri bolnišnični obravnavi oseb s tega področja upoštevamo z zdravstveno oskrbo povezane ukrepe za preprečevanje in obvladovanje okužb.
INFECTIOUS DISEASES IN CHILDREN Veronika Jagodic Bašič; Tanja Berkopec; Nina Prodanović ...
Slovenska pediatrija,
05/2022, Letnik:
29, Številka:
2
Journal Article
Recenzirano
Odprti dostop
Infectious diseases are diseases that are caused by spread of microorganisms (bacteria, viruses, fungus or parasites) or prions to the people from the humans, animals or environment. Infections have ...been transmitted by contacts, droplets or aero genus, directly from human to human, through infected objects, with consumption of contaminated food or beverage, contact with contaminated body liquids or with bite or peak of an animal. Healthcare management of infections caused by Lyme borrelia, tick – borne meningoencephalitis, hantaviruses, measles virus and varicella zoster virus are discussed. Many infectious diseases, such as measles and chickenpox, could be prevented with vaccines. The procedures of aerogenic isolation need to be applied in hospital environment; if however the infected person does not need to be hospitalized he (she) must be isolated at home environment. Raising of people awareness is very important for animal borne diseases. The awareness upon importance of protection against tick bites and consistent self-examination is crucial for diminishing of infections with Lyme borellia and tick – borne meningoencephalitis and protection against inhalation of aerosols while cleaning the abandoned areas against mouse fever. There is a vaccine against tick – borne meningoencephalitis which is recommended from the age of one year. Due to Ukrainian war and increased number of displaced persons an increase in infections with tuberculosis, measles and the emergence of multi- resistant bacteria is possible. All measures to prevent and control healthcare connected infections should be considered when treating individuals from this area.
Diagnosis of inherited thrombocytopenias represents a true challenge owing to heterogeneity of these disorders and the absence of distinctive features in a substantial proportion of patients. ...Classical diagnostic approach is based on phenotypic characterization followed by molecular analysis of candidate genes guided by clinical suspicion. The introduction of next generation sequencing (NGS), that allows multiple genes analysis, is a high-cost alternative with limited access in our country. The aim of this work was to evaluate the utility of the classical approach in a consecutive cohort of 50 families and to describe the application of NGS in a subgroup of patients without an etiological diagnosis after the initial approach.Through the conventional approach, an etiologic diagnosis was made in 27 (54%) families. NGS wasperformed in 8 that remained without diagnosis after initial characterization, attaining a diagnosis in4. Combining both approaches, the diagnostic yield was 31/50 (62%) families: 38% MYH9-related disorder, 8% Bernard-Soulier syndrome, 4% gray platelet syndrome, 4% familial platelet disorder with predisposition to leukemia, 6% ANKRD26-related thrombocytopenia, 2% Wiskott-Aldrich syndrome. Most patients without diagnosis had isolated macrothrombocytopenia and mild bleeding. NGS increased the diagnostic rate in this cohort, although it would be necessary to expand the population to establish its actual value in our setting. Therefore, the use of the classical approach and subsequent application of NGS in undiagnosed patients would represent a useful alternative in low-income countries, pointing out that a correct etiological diagnosis enables the detection of syndromic complications, appropriate treatment and adequate genetic counseling.
Dada la heterogeneidad de las entidades comprendidas en las trombocitopenias hereditarias y la escasezde marcadores distintivos, su diagnóstico constituye un verdadero desafío. El abordaje clásico se basa en la caracterización fenotípica seguida del estudio molecular de genes candidatos, orientado según la sospecha clínica. La introducción de la secuenciación de nueva generación (NGS), que permite evaluar múltiples genes simultáneamente, constituye una alternativa diagnóstica de alto costo, siendo de acceso limitado en nuestro medio. Nos propusimos evaluar la utilidad del abordaje clásico en una cohorte consecutiva de 50 familias y describir la aplicación de NGS en un subgrupo de pacientes sin diagnóstico etiológico luego del enfoque clásico. Mediante el abordaje clásico se efectuó el diagnóstico en 27 (54%) familias.Posteriormente, 8 familias que quedaron sin diagnóstico luego del algoritmo clásico, se evaluaron mediante NGS, identificando el gen causal en 4 de ellas.Considerando ambos abordajes, el rédito diagnóstico fue 31/50 (62%) familias, con la siguiente distribución: 38% desorden relacionado a MYH9, 8% síndrome de Bernard-Soulier (4% clásico, 4% monoalélico), 4% síndrome de plaquetas grises, 4% desorden plaquetario con predisposición a leucemia, 6% trombocitopenia relacionada a ANKRD26, 2% síndrome Wiskott-Aldrich. Los pacientes en los que no se pudo efectuar un diagnóstico etiológico presentaban trombocitopenia aislada leve, con aumento moderado del tamaño plaquetario y sangrado escaso.En conclusión, la aplicación de NGS permitió aumentar el rédito diagnóstico, si bien sería necesario ampliar la población estudiada para establecer el valor real de este abordaje en nuestro medio. Por lo tanto, el uso inicial del abordaje clásico, reservándose la aplicación posterior de NGS a los casos que permanecen sin diagnóstico luego de este enfoque, constituiría una alternativa útil en países con pocos recursos, apuntando a un diagnóstico adecuado que posibilite la pesquisa de complicaciones sindrómicas, oriente al tratamiento y consejo genético acertado.
