A Mucopolissacaridose tipo IVA (MPS IVA), é uma doença lisossômica de depósito ocasionada pela degradação deficiente dos glicosaminoglicanos (GAG) queratan sulfato e condroitin-6-sulfato devido à deficiência da enzima N-acetilgalactosamina 6-sulfatase. Como a fisiopatologia desta doença ainda não está totalmente elucidada e muitos estudos vêm demonstrando o envolvimento do estresse oxidativo e inflamação na patogênese de outros tipos de mucopolissacaridoses, o objetivo principal deste trabalho foi investigar os parâmetros de estresse oxidativo e mediadores inflamatórios em pacientes MPS IVA sob terapia de reposição enzimática (TRE). Foram analisadas amostras de urina e sangue de pacientes MPS IVA sob TRE (n=17) e controles saudáveis pareados por idade (n=10-14). Os pacientes apresentaram diminuição significativa nos níveis de defesas antioxidantes, medida através dos níveis de glutationa reduzida (GSH), e aumento da enzima superóxido dismutase (SOD) em eritrócitos. Em relação ao dano a biomoléculas, foi observado nos pacientes um aumento de lipoperoxidação (aumento dos níveis de isoprostanos urinários) e de dano oxidativo a proteínas (aumento dos níveis urinários de di-tirosina e diminuição dos grupamentos sulfidrila no plasma) comparativamente aos controles. Nossos resultados também mostraram que os pacientes MPS IVA sob TRE apresentaram maior dano ao DNA, sendo este dano de origem oxidativa e atingindo bases purínicas e pirimidínicas. Além disso, os pacientes apresentaram níveis significativamente aumentados de interleucina-6 e esta, por sua vez, apresentou correlação negativa com GSH, mostrando uma possível relação entre inflamação e estresse oxidativo nesta doença. Considerando que os níveis de GAG urinários ainda se encontravam elevados nos pacientes em comparação com o grupo controle, pode-se supor que os mesmos estejam, pelo menos em parte, correlacionados com os danos oxidativos encontrados nestes pacientes. Os dados encontrados no presente trabalho sugerem que pacientes MPS IVA sob TRE apresentam uma condição pró-inflamatória e oxidativa e que a suplementação com antioxidantes em combinação com a TRE deve ser investigada com o intuito de melhorar a qualidade de vida dos pacientes. Cabe ressaltar que este é o primeiro estudo em pacientes que relaciona MPS IVA com estresse oxidativo e inflamação. / The Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal storage disease caused by impaired degradation of keratan sulfate and chondroitin-6-sulfate glycosaminoglycans (GAG), due to a deficiency on the enzyme N-acetylgalactosamine-6-sulfatase. Since the pathophysiology of this disease is still not totally elucidated and many studies demonstrated the involvement of oxidative stress and inflammation in the pathogenesis of other mucopolysaccharidoses types, the principal objective of this study was to investigate oxidative stress parameters and inflammatory mediators in MPS IVA patients under enzyme replacement therapy (ERT). Urine anda blood samples of MPS IVA patients under ERT (n= 17) and healthy age-matched controls (n= 10-14) were evaluated. Patients presented a significant decrease in antioxidant defenses levels, assessed by reduced glutathione (GSH), and increased superoxide dismutase (SOD) activity in erythrocytes. With regard to the biomolecules damage, was observed that patients presented lipid peroxidation (increase of isoprostanes urinary levels) and protein damage (increase of di-tyrosine urinary levels and decrease of sulfhydryl groups in plasma), when compared to controls. Our results showed higher DNA damage levels in MPS IVA patients compared to control group, in both pyrimidines and purines bases. The pro-inflammatory cytokine interleukin 6 (IL-6) was significantly increased in patients and showed an inverse correlation with GSH levels, showing a possible link between inflammation and oxidative stress in MPS IVA disease. Considering that GAG urinary level were still high in ERT patients compared to the control group, we propose that GAG are, at least in part, related with oxidative damage found in MPS IVA patients. The data presented suggest that pro-inflammatory and pro-oxidant states occur in MPS IVA patients under ERT, and the supplementation of antioxidants in combination with ERT can be investigated with the purpose of improving the patient’s life quality. To the best of our knowledge, this is the first study in patients relating MPS IVA with oxidative stress and inflammation.

Mucopolissacaridoses (MPS) são erros inatos do metabolismo, fazem parte das doenças lisossômicas de depósito e ocorrem devido à deficiência na atividade de enzimas que catalisam a degradação de glicosaminoglicanos (GAGs). São doenças crônicas e progressivas causadas pelo acúmulo de um ou mais GAGs nos lisossomos das células. A MPS do tipo IV (síndrome de Morquio) ocorre pelo acúmulo de queratan sulfato e condoitin-6-sulfato, causado pela deficiência de duas diferentes enzimas, que distinguem essa MPS em dois subtipos, deficiência de N-acetilgalactosamina-6-sulfatase (MPS IV tipo A) ou de β-galactosidase (MPS IV tipo B). Na MPS IV A as características clínicas predominantes são relacionadas ao sistema esquelético e na maioria das vezes o paciente tem inteligência normal; não há uma terapia efetiva para a doença, deste modo o diagnóstico precoce direciona para o início de tratamentos paliativos. A investigação inicial dessa MPS se baseia em avaliação clínica, radiografias, quantificação e identificação de GAGs urinários e o diagnóstico definitivo pela medida da atividade enzimática da N-acetilgalactosamina-6-sulfatase (GALNS) em leucócitos ou fibroblastos. O objetivo desse trabalho foi estudar alguns parâmetros bioquímicos da enzima GALNS em leucócitos de indivíduos normais e adaptar a técnica de medida dessa atividade enzimática para sangue impregnado em papel filtro. O Km e a Vmáx da GALNS em leucócitos de indivíduos normais foi de 7,16mM e 77,3nmol/17h/mg de proteína, respectivamente. Também adaptamos a técnica da medida da atividade enzimática dessa enzima utilizando menor concentração de substrato (3mM), esta concentração teve correlação positiva com a concentração 10 mM, que é empregada na técnica original. A partir disto, foram estabelecidos os valores de referência em leucócitos para indivíduos normais e indivíduos afetados com MPS IV A. Os mesmos foram, respectivamente: 11,0 a 101,4 e 0,1 a 0,2 nmol/17h/mg de proteína. Foi também observado que, com o passar do tempo, a temperatura de 70ºC causa uma inativação gradual da atividade enzimática. Por último, apesar de várias alterações na técnica original em leucócitos, não foi possível adaptá-la para ser utilizada na medida da atividade da GALNS em sangue impregnado em papel filtro. A determinação dos parâmetros bioquímicos da GALNS é conveniente devido ao avanço nos estudos clínicos de desenvolvimento da terapia de reposição enzimática aos indivíduos afetados com MPS IV A e na distinção de indivíduos saudáveis, afetados e heterozigotos. Desenvolver técnicas fluorimétricas em amostras de sangue impregnado em papel filtro é de grande importância para serem utilizadas em triagem de recém-nascidos e populações de alto risco para MPS. Devendo ser confirmado por testes de atividade da enzima em leucócitos ou fibroblastos cultivados. A partir dos nossos protocolos, não foi possível desenvolver e padronizar uma técnica para medida da atividade da enzima N-acetilgalactosamina-6-sulfatase em sangue impregnado em papel filtro de modo a triarmos indivíduos com suspeita de MPS IV A. / Mucopolysaccharidosis (MPS) are inborn errors of metabolism, are part of the lysosomal storage diseases and occur due to the deficiency in the activity of enzymes that catalyze the degradation of glycosaminoglycans (GAGs). They are chronic and progressive diseases caused by the accumulation of one or more GAGs in the lysosomes of cells. The MPS type IV (Morquio syndrome) occurs by the accumulation of keratan sulfate and condoitin-6-sulfate, caused by two different enzyme deficiencies, which distinguish this MPS into two subtypes, deficiency of N-acetylgalactosamine-6-sulfatase (MPS IV type A) or the enzyme β-galactosidase (MPS type IV B). In MPS IVA the predominant clinical features are related to the skeletal system and in most cases the patient has normal intelligence. There is no effective therapy for the disease, so early diagnosis directs for the beginning of palliative treatments. The initial investigation of this MPS is based on clinical evaluation, radiographs, quantification and identification of urinary GAGs and the definitive diagnosis by measure of N-acetylgalactosamine-6-sulfatase (GALNS) activity in leukocytes or fibroblasts. The aim of this work was to study some biochemical parameters of the GALNS in leukocytes of normal individuals and adapt the technique of measuring this enzyme activity to blood impregnated on filter paper. The Km and Vmax of GALNS in leukocytes from normal subjects was 7.16 mM and 77.3 nmol/17h/mg of protein, respectively. We also adapted the technique of measuring the enzymatic activity of this enzyme using lower substrate concentration (3mM). This concentration had a positive correlation with 10 mM concentration, which is used in the original technique. From this, the reference values for normal and individuals affected with MPS IVA in leukocytes were established. They were 11.0 to 101.4 and 0.1 to 0.2 of nmol/17h/mg of protein, respectively. It was also observed that over time the temperature of 70°C causes a gradual inactivation of enzyme activity. Finally, despite several changes to the original technique in leukocytes, it has not been possible to adapt it to be used in measuring the activity of GALNS blood impregnated on filter paper. The determination of biochemical parameters of GALNS is convenient due to the advancement in clinical studies for the development of enzyme replacement therapy for individuals affected with MPS IVA and to distinguish between healthy and affected heterozygous individuals. The development of fluorometric techniques in blood impregnated on filter paper is of great importance for use in newborn screening and in high risk populations to MPS. It should be confirmed by tests of enzyme activity in leukocytes or cultured fibroblasts. Unfortunately, from our protocols, it was not possible to develop and standardize a technique for measuring the activity of the enzyme N- acetylgalactosamine-6-sulfatase in blood impregnated on filter paper for to screen individuals suspected of MPS IVA.

Abstrakt Bakgrund: Vårdmiljön på operations- och intensivvårdsavdelningen är avancerad och högteknologisk. Att vara patient och behöva vårdas på sjukhus innebär att komma till en främmande miljö med risk att förlora kontroll över sig själv och behöva överlämnas till andra. Förhållandet mellan patient, vårdpersonal, närstående, teknik, omgivning samt omvärld anses vara avgörande för hur patienten kommer att uppleva vårdmiljön.  Syfte: Att beskriva patienters upplevelser av vårdmiljön på operations- och intensivvårdsavdelning. Metod: Systematisk litteraturstudie med induktiv och kvalitativ ansats. Analysen utfördes genom att syntetisera och summera innehållet i 17 kvalitativa primärstudier.  Resultat: Resultatet består av 3 huvudteman och 8 underteman. Tema nr 1: Att vara patient i en främmande och teknisk vårdmiljö - patienternas förändrade upplevelser av sig själva, att befinna sig mellan fantasi och verklighet, att ha och inte kontroll över sin situation samt familjens betydelse för patienternas upplevelser. Tema nr 2: Patienternas upplevelser av rädsa - att vara rädd samt rädsla mot existensen. Tema nr 3: Personalens betydelse för patienternas upplevelser - att vara väl eller icke väl omhändertagen samt att behandlas som subjekt eller objekt.  Slutsats: Patienternas upplevelser av vårdmiljön på operations- och intensivvårdsavdelningen beskrevs som både positiva och negativa, betryggande och skrämmande men var framförallt individuella. Relationen med vårdpersonalen och att som patient känna sig väl omhändertagen samt att bli bemött och behandlad med respekt, där patientens integritet och individualitet låg till grund för vårdandet, var den viktigaste aspekten i patienternas möte med vården.

Mucopolissacaridoses (MPS) são erros inatos do metabolismo, fazem parte das doenças lisossômicas de depósito e ocorrem devido à deficiência na atividade de enzimas que catalisam a degradação de glicosaminoglicanos (GAGs). São doenças crônicas e progressivas causadas pelo acúmulo de um ou mais GAGs nos lisossomos das células. A MPS do tipo IV (síndrome de Morquio) ocorre pelo acúmulo de queratan sulfato e condoitin-6-sulfato, causado pela deficiência de duas diferentes enzimas, que distinguem essa MPS em dois subtipos, deficiência de N-acetilgalactosamina-6-sulfatase (MPS IV tipo A) ou de β-galactosidase (MPS IV tipo B). Na MPS IV A as características clínicas predominantes são relacionadas ao sistema esquelético e na maioria das vezes o paciente tem inteligência normal; não há uma terapia efetiva para a doença, deste modo o diagnóstico precoce direciona para o início de tratamentos paliativos. A investigação inicial dessa MPS se baseia em avaliação clínica, radiografias, quantificação e identificação de GAGs urinários e o diagnóstico definitivo pela medida da atividade enzimática da N-acetilgalactosamina-6-sulfatase (GALNS) em leucócitos ou fibroblastos. O objetivo desse trabalho foi estudar alguns parâmetros bioquímicos da enzima GALNS em leucócitos de indivíduos normais e adaptar a técnica de medida dessa atividade enzimática para sangue impregnado em papel filtro. O Km e a Vmáx da GALNS em leucócitos de indivíduos normais foi de 7,16mM e 77,3nmol/17h/mg de proteína, respectivamente. Também adaptamos a técnica da medida da atividade enzimática dessa enzima utilizando menor concentração de substrato (3mM), esta concentração teve correlação positiva com a concentração 10 mM, que é empregada na técnica original. A partir disto, foram estabelecidos os valores de referência em leucócitos para indivíduos normais e indivíduos afetados com MPS IV A. Os mesmos foram, respectivamente: 11,0 a 101,4 e 0,1 a 0,2 nmol/17h/mg de proteína. Foi também observado que, com o passar do tempo, a temperatura de 70ºC causa uma inativação gradual da atividade enzimática. Por último, apesar de várias alterações na técnica original em leucócitos, não foi possível adaptá-la para ser utilizada na medida da atividade da GALNS em sangue impregnado em papel filtro. A determinação dos parâmetros bioquímicos da GALNS é conveniente devido ao avanço nos estudos clínicos de desenvolvimento da terapia de reposição enzimática aos indivíduos afetados com MPS IV A e na distinção de indivíduos saudáveis, afetados e heterozigotos. Desenvolver técnicas fluorimétricas em amostras de sangue impregnado em papel filtro é de grande importância para serem utilizadas em triagem de recém-nascidos e populações de alto risco para MPS. Devendo ser confirmado por testes de atividade da enzima em leucócitos ou fibroblastos cultivados. A partir dos nossos protocolos, não foi possível desenvolver e padronizar uma técnica para medida da atividade da enzima N-acetilgalactosamina-6-sulfatase em sangue impregnado em papel filtro de modo a triarmos indivíduos com suspeita de MPS IV A. / Mucopolysaccharidosis (MPS) are inborn errors of metabolism, are part of the lysosomal storage diseases and occur due to the deficiency in the activity of enzymes that catalyze the degradation of glycosaminoglycans (GAGs). They are chronic and progressive diseases caused by the accumulation of one or more GAGs in the lysosomes of cells. The MPS type IV (Morquio syndrome) occurs by the accumulation of keratan sulfate and condoitin-6-sulfate, caused by two different enzyme deficiencies, which distinguish this MPS into two subtypes, deficiency of N-acetylgalactosamine-6-sulfatase (MPS IV type A) or the enzyme β-galactosidase (MPS type IV B). In MPS IVA the predominant clinical features are related to the skeletal system and in most cases the patient has normal intelligence. There is no effective therapy for the disease, so early diagnosis directs for the beginning of palliative treatments. The initial investigation of this MPS is based on clinical evaluation, radiographs, quantification and identification of urinary GAGs and the definitive diagnosis by measure of N-acetylgalactosamine-6-sulfatase (GALNS) activity in leukocytes or fibroblasts. The aim of this work was to study some biochemical parameters of the GALNS in leukocytes of normal individuals and adapt the technique of measuring this enzyme activity to blood impregnated on filter paper. The Km and Vmax of GALNS in leukocytes from normal subjects was 7.16 mM and 77.3 nmol/17h/mg of protein, respectively. We also adapted the technique of measuring the enzymatic activity of this enzyme using lower substrate concentration (3mM). This concentration had a positive correlation with 10 mM concentration, which is used in the original technique. From this, the reference values for normal and individuals affected with MPS IVA in leukocytes were established. They were 11.0 to 101.4 and 0.1 to 0.2 of nmol/17h/mg of protein, respectively. It was also observed that over time the temperature of 70°C causes a gradual inactivation of enzyme activity. Finally, despite several changes to the original technique in leukocytes, it has not been possible to adapt it to be used in measuring the activity of GALNS blood impregnated on filter paper. The determination of biochemical parameters of GALNS is convenient due to the advancement in clinical studies for the development of enzyme replacement therapy for individuals affected with MPS IVA and to distinguish between healthy and affected heterozygous individuals. The development of fluorometric techniques in blood impregnated on filter paper is of great importance for use in newborn screening and in high risk populations to MPS. It should be confirmed by tests of enzyme activity in leukocytes or cultured fibroblasts. Unfortunately, from our protocols, it was not possible to develop and standardize a technique for measuring the activity of the enzyme N- acetylgalactosamine-6-sulfatase in blood impregnated on filter paper for to screen individuals suspected of MPS IVA.

Bakgrund: En intensivvårdsavdelning vårdar de allra sjukaste patienterna, som på grund av sjukdomens svårighetsgrad inte kan vårdas på en vårdavdelning. Den avancerade och högteknologiska miljön är för många människor främmande och skrämmande och kan i kombination med att behöva bekanta sig med tanken på att patienten kan avlida kan upplevas påfrestande för närstående. Med närstående menas de personer som patienten uppger som sina närmaste. I Sverige tillämpas nationellt vårdprogram utvecklat av Socialstyrelsen, där närståendestöd utgör en viktig del.  I och med covid19-pandemin har ett behov uppstått att vårda i livets slut, särskilt inom intensivvård där många svårt sjuka i Covid-19 vårdas. Intensivvårdssjuksköterskan ska kunna bemöta sorg, ge stöd samt delge närstående information om vård i livets slut. Syfte: Att beskriva närståendes upplevelser av vård i livets slut på en intensivvårdsavdelning. Metod: Systematisk litteraturstudie med induktiv ansats. Den insamlade datan har analyserats med hjälp av kvalitativ innehållsanalys. Resultat: Studiens resultat genererade fyra kategorier: Kommunikation, Viljan att få vara delaktig, Att få rätt stöd i en svår situation samt En vårdmiljö som påverkar. Slutsats: Närståendes upplevelser av vård i livets slut handlar om den högteknologiska miljön som deras närstående vårdas i, men också om kommunikation och stöd från vårdpersonal samt sin egen delaktighet. Närstående önskar tydlig och ärlig kommunikation, erbjudas att vara delaktiga i beslut och omvårdnad, förstå den högteknologiska miljön samt erbjudas stöttning både andligt och emotionellt. / Background: An intensive care unit cares for the most ill patients, who due to the severity of the disease cannot be cared for in a regular hospital ward. The advanced and high-tech environment is foreign and sometimes frightening to many people and in combination with getting aware of the fact that the patient may die can be experienced as stressful for the next of kin. By next of kin means the persons whom the patient states as their nearest and dearest. In Sweden, a national care program developed by the National Board of Health and Welfare is applied, where support for the next of kin is an important part. Due to the Covid-19 pandemic, a need to provide care at the end-of-life has increased, especially in intensive care units where many seriously ill people in Covid-19 are cared for. The intensive care nurse must be able to respond to grief, provide support and provide next of kin with information about care at the end of life. Aim: To describe next of kin’s experiences of end-of-life care in an intensive care unit.  Method: Systematic literature review with an inductive approach. The collected data of this study has been analyzed using qualitative content analysis. Results: This study generated four categories: Communication, willingly to participate, To get support in a demanding situation and A caring environment that effects. Conclusion: Relatives' experiences of end-of-life care are about the high-tech environment in which their relatives are cared for, but also about communication, support from caring staff and family members own participation. Relatives want clear and honest communication. Family members wants to be offered to be involved in decisions and care, understand the high-tech environment and are offered support both spiritually and emotionally.

Bakgrund: COVID-19 är ett coronavirus som identifierades hos patienter med oförklarlig lunginflammation i Kina i december 2019. Sedan början av pandemin har operationsavdelningar i Sverige stängts till förmån för särskilda COVID-IVA. Anestesisjuksköterskor har flyttats från sina ordinarie arbetsplatser för att hjälpa till och stötta arbetet. Inga tidigare studier finns om anestesisjuksköterskors upplevelse av att vårda patienter med COVID-19. Syfte: Att undersöka anestesisjuksköterskors upplevelser av att vårda patienter med COVID-19 på COVID-IVA. Metod: Semistrukturerade intervjuer genomfördes med 10 anestesisjuksköterskor på ett mellanstort sjukhus i södra Sverige. Datamaterialet analyserades utifrån en kvalitativ innehållsanalys. Resultat: Anestesisjuksköterskorna kände oro inför första arbetsdagen på COVID-IVA. De kom dock snabbt in i arbetsuppgifterna och det skapade trygghet. Att inte få använda sin erfarenhet till fullo var negativt men att slippa patientansvar upplevdes positivt. Arbetet på COVID-IVA var påfrestande gällande både arbetsmiljön och privatlivet. Slutsats: Anestesisjuksköterskorna upplevde blandade känslor inför arbetet på COVID-IVA. Det fanns en oro över tillgången till skyddsutrustning. Flera trivdes ej med arbetsuppgifterna och ville inte arbeta på COVID-IVA ”för alltid”. Arbetet på COVID-IVA utvecklade dem personligen men inte inom yrkesprofessionen. Man var beroende av sina kollegor i teamet för att klara av att ta hand om patienterna. Känslan av att vara behjälplig, att känna sig uppskattad och värdefull bidrog till upplevelsen av att känna sig behövd. Arbetsmiljön på COVID-IVA upplevdes dålig då den var påfrestande gällande både arbetstempo och arbetsbelastning. De flesta anestesisjuksköterskor var ej nöjda över att behöva arbeta på COVID-IVA men flera uppgav att stämningen på COVID-IVA ändå var god. / Background: COVID-19 is a coronavirus that was identified in patients with unexplained pneumonia in China in December 2019. Since the beginning of the pandemic, operating wards in Sweden have been closed in favor of special COVID-ICU’s. Nurse anesthetists have been moved from their regular workplaces to help and support the work. There are no previous studies on nurse anesthetists’ experience of caring for patients with COVID-19. Aim: To explore nurse anesthetists’ experiences of caring for patients with COVID-19 at COVID-ICU. Method: Semi-structured interviews were conducted with 10 nurse anesthetists at a medium-sized hospital in southern Sweden. The data material was analyzed on the basis of a qualitative content analysis. Results: The nurse anesthetists felt anxious before their first working day at COVID-ICU. However, they quickly got into the tasks and it created safety. Not being able to use their experience to the full was negative but avoiding patient responsibility was experienced as positive. The work at COVID-ICU was stressful regarding both the work environment and private life. Conclusion: The nurse anesthetists experienced mixed feelings before working in COVID-ICU. There was concern about the availability of personal protective equipment. Many did not like the tasks and did not want to work at COVID-ICU "forever". The work at COVID-ICU developed them personally but not in their professional profession. They were dependent on their colleagues in the team to be able to care for the patients. Feeling appreciated and valuable contributed to the experience of feeling needed. The work environment in COVID-ICU was perceived as poor as it was stressful in terms of both work pace and workload. Despite the fact that most nurse anesthetists were not satisfied with having to work at COVID-ICU, several stated that the atmosphere in COVID-ICU was still good.

Bakgrund: Utvecklingen av intensivvården har under de senaste åren lett till att antalet personer som överlever intensivvården har ökat. Över hälften av alla överlevare drabbas av olika komplikationer i efterförloppet som kräver behandling och rehabilitering. Kunskapen om detta är av betydelse för sjuksköterskan för att förstå vikten av personcentrerad vård efter intensivvårdsbehandling. Syfte: Syftet med litteraturstudien var att sammanställa intensivvårdsbehandlade patienters upplevelser av efterförloppet. Metod: En kvalitativ litteraturstudie med induktivt förhållningssätt. Databaserna PubMed, Cinahl och SveMed+ användes för att ta fram material för studien. En kvalitetsgranskning av studierna utfördes med SBU:s granskningsmall för kvalitativa studier. Resultat: Resultatet redovisas utifrån sex kategorier: fysisk, psykisk och kognitiv påverkan, en lång återhämtningsprocess, behov av stöd från närstående, behov av omvårdnad, behov av hanteringsstrategier och förändringar av livet. Konklusion: Studiens resultat skildrar de intensivvårdsbehandlade patienternas olika upplevelser i efterförloppet. Patienterna upplevde att deras behov inte blev tillgodosedda samt att tillgången till och kvaliteten på den uppföljande vården var begränsad. De upplevde även en brist på information om vad tiden efter intensivvårdsbehandlingen skulle innebära. Den uppföljande vården har utvecklats under den senaste tiden, men behöver fortsatt utveckling för att kunna tillgodose behoven hos denna patientgrupp. / Background: The development of intensive care during the latest years have led to increasing numbers of ICU survivors. More than half of all survivors are affected by different complications after intensive care treatment that needs treatment and rehabilitation. This knowledge is of meaning for the nurse to understand the importance of person-centred care after intensive care treatment. Aim: The aim of the study was to compile patients’ experiences of recovery after intensive care treatment. Method: A literature review with a qualitative approach was used. Literature searches were performed in the databases PubMed, Cinahl and SveMed+. The quality of the selected studies was assessed using SBU’s review tamplet for qualitative studies. Results: The results are reported based on six categories: physical, mental, and cognitive impact, a long recovery-process, need for support from family and friends, need for care, need for coping strategies and changes in life. Conclusion: The results of the study describes the patients´ different experiences during the recovery from intensive care treatment. The patients experienced that their needs weren´t fullfilled and that the availability and quality of the follow-up care was limited. They also experienced that there was a lack of information about the recovery. The follow-up care has developed during the recent years, but it needs further development to be able to meet the needs of this group of patients.

ABSTRACT  Background: ICU diaries are initiated by critical care nurses to document events that take place during patients’ ICU stays with the aim to help patients recall memories of what happened. The relationship dimension in the Fundamentals of Care (FoC) framework begins with the ability of nurses to connect with patients, and through this connection, nurses try to meet and help the patient to meet his/her fundamental needs. The role of ICU diaries in establishing a nurse-patient relationship is unknown. Aim: The aim of the study was to examine the use of the ICU diary as a tool to strengthen nurse-patient relationships.  Method: A literature review with inductive content analysis of 20 primary articles. The results were interpreted and discussed using the establishing relationship dimension of the FoC framework. Findings: The statements of patients and nurses about the use of diaries reflect a strong nurse-patient relationship dimension. When combined with ICU follow-up sessions, the relationship is further strengthened, as there is more understanding and knowledge of the bond retrospectively. Conclusion: All elements of the FoC establishing relationship dimension, namely focus, knowing, trusting, anticipating and evaluating are visible in the diaries, and several statements by nurses suggest that using the diaries may have a positive effect on the nurse-patient relationship. However, to what extent the nurse-patient relationship is strengthened by the use of the diaries is less clear and remains an open question. To answer this question, controlled comparative studies would be required. / SAMMANFATTNING Bakgrund: IVA-dagböcker initieras av intensivvårdssjuksköterskor för att dokumentera vad som händer under en patients IVA-vistelse, med syftet att hjälpa patienter att senare komma ihåg vad de varit med om. Dimensionen etablera vårdrelation i ramverket Fundamentals of Care (FoC) börjar med sjuksköterskors förmåga att anknyta till patienter, och genom denna anknytning försöker sjuksköterskorna att möta och hjälpa patienten för att tillfredsställa dennes fundamentala behov. Det är inte känt vilken roll IVA-dagbok spelar i att etablera en vårdrelation mellan sjuksköterska och patient. Syfte: Studiens syfte var att undersöka användning av IVA-dagbok som ett verktyg för att stärka vårdrelation mellan sjuksköterska och patient. Metod: Litteraturöversikt med induktiv innehållsanalys av 20 originalartiklar. Resultaten tolkades och diskuterades inom ramen för FoC-dimensionen etablera vårdrelation. Resultat: Det patienter och sjuksköterskor säger om användning av IVA-dagbok ger uttryck för en stark vårdrelation. När dagboken efter att patienten skrivits ut används vid uppföljning på IVA stärks denna relation ytterligare, eftersom uppföljningen leder till att patienten får en fördjupad förståelse och kunskap om den vårdrelation som etablerats under vistelsen på IVA. Slutsats: Alla element i FoC-dimensionen etablera vårdrelation (vara närvarande, vara påläst, skapa förtroende, förutse behov, reflektera och utvärdera) är synliga i det patienter och sjuksköterskor säger om dagbok. Utsagor från flera sjuksköterskor tyder på att användning av IVA-dagbok kan ha en positiv effekt på vårdrelationen, men i vilken utsträckning dagboken stärker relationen är mindre klart och fortsätter att vara en öppen fråga. För att besvara denna fråga skulle kontrollerade jämförande studier behövas.

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Introdução: As Doenças lisossômicas (DLs) são condições genéticas, herdadas na sua maioria de forma autossômica recessiva, caracterizadas usualmente pela deficiência de enzimas lisossômicas específicas, envolvidas na síntese, degradação, armazenamento ou transporte de macromoléculas necessárias para o funcionamento normal do organismo. Nas situações mais típicas, o substrato não degradado acumula-se progressivamente nos lisossomos, com repercussões estruturais e funcionais, levando a sinais e sintomas característicos. Os pacientes apresentam um amplo espectro de manifestações clínicas, que podem incluir disfunção de órgãos, anormalidades esqueléticas, envolvimento neuronal, entre outras. O diagnóstico é usualmente obtido pela identificação da deficiência enzimática específica em leucócitos obtidos do sangue periférico, usualmente realizado em laboratórios de referência. O transporte da amostra pode ser um obstáculo quando o serviço requisitante está situado longe do centro de referência ou em outro país, situação em que a amostra de sangue pode chegar ao laboratório já sem condições de ser analisada. Objetivo: Este estudo teve como objetivo principal, tornar disponível um método mais simples, seguro e acessível que utiliza amostras de leucócitos impregnados em papel filtro (LIPF) como uma nova ferramenta para o diagnóstico bioquímico de pacientes com DLs. Métodos: O estudo envolveu amostras de pacientes com diagnóstico previamente confirmado de DLs (amostra de conveniência, por se tratarem de doenças raras, com incidências individuais ao redor de 1:100.000 recém-nascidos vivos). Foram incluídos no estudo os pacientes com diagnóstico já estabelecido de DLs selecionadas (MPS IVA, Doença de Krabbe, Doença de Gaucher e Doença de Pompe), independente do sexo e/ou idade, atendidos no Serviço de Genética Médica do HCPA, que concordaram em participar do estudo. O grupo de referência negativo foi constituído pelas amostras de 50 indivíduos hígidos, adultos, de ambos os sexos. Resultados: Os resultados obtidos nos ensaios enzimáticos de pacientes com MPS IVA, Doença de Krabbe, Doença de Gaucher e Doença de Pompe, indicaram que as enzimas analisadas em amostras de LIPF permitiram a identificação de todos os pacientes, com sensibilidade de 100%. Os testes de estabilidade realizados nas amostras de LIPF indicaram que as amostras, quando mantidas a 4ºC, se mostram estáveis por pelo menos 30 dias. Conclusões: Nas condições utilizadas, amostras de LIPF se mostraram adequadas para a identificação segura de pacientes com MPS tipo IVA, Doença de Krabbe, Doença de Gaucher e Doença de Pompe. As amostras de leucócitos secos em papel filtro são mais estáveis e seguras para o transporte, indicando que possa ser esta uma importante ferramenta para facilitar a identificação de pacientes com DLDs, especialmente daqueles que vivem em áreas que tem dificuldades para a remessa de amostras líquidas para serviços de referência. / Background: Lysosomal Disorders (LDs) are genetic conditions, mostly inherited in autosomal recessive fashion, usually characterized by a deficiency of specific lysosomal enzymes involved in the synthesis, degradation, storage or transportation of macromolecules necessary for normal functioning of the organism. Typically, the non-degraded substrate is progressively accumulated in lysosomes, with structural and functional repercussions, leading to characteristic signs and symptoms. Affected patients present a wide range of clinical manifestations, which may include organ dysfunction, skeletal anomalies, neuronal involvement, etc. The diagnosis is normally made through identification of the specific enzyme deficiency in white blood cells from a sample of peripheral blood, usually performed in reference laboratories. The transporting of a liquid sample can be a problem when the test orderer is located far from the reference center or in a foreign country, as often the blood sample arrives at the laboratory in poor condition and cannot be properly analyzed. Aim: The main aim of this study was to make available a new technique that is simpler, safer and more accessible, using leukocytes impregnated on filter paper (LIFP) as a new tool for the biochemical diagnosis of patients with LSDs. Methods: This study involved samples of patients with previously confirmed diagnosis of selected LSDs (a convenience sample, as these are rare diseases, with individual incidences around 1:100.000 live newborns). Patients with an established diagnosis of MPS IVA, Krabbe Disease, Gaucher’s disease and Pompe disease regardless of sex and/or age, cared for at the Genetics Service of HCPA and who agreed to participate were included in the study. The negative reference group comprised blood samples from 50 healthy adults of both genders. Results: The results obtained in the enzymatic assays of patients with MPS IVA, Krabbe Disease, Gaucher’s disease, and Pompe disease indicated that the analyzed enzymes in LIFP samples allowed the identification of all patients, with sensitivity of 100%. The stability tests performed in LIFP samples indicated that samples, when maintained at 4ºC, were stable for at least 30 days. Conclusions: In the conditions used, LIFP samples were shown to be adequate for a reliable identification of patients with MPS IVA, Krabbe Disease, Gaucher’s disease, and Pompe disease. Blood samples on filter paper are more stable and reliable for transportation, indicating that this may be an important tool to facilitate the identification of patients with LSDs, particularly those living in areas with difficulties for the shipment of liquid samples to reference cervices.