IPEX as a Result of Mutations in FOXP3

Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutations in the FOXP3 gene that result in the defective development of CD4+CD25+ regulatory T cells which constitute an important T cell subset involved in immune homeostasis and protection against autoimmunity. Their deficiency is the hallmark of IPEX and leads to severe autoimmune phenomena including autoimmune enteropathy, dermatitis, thyroiditis, and type 1 diabetes, frequently resulting in death within the first 2 years of life. Apart from its clinical implications, IPEX illustrates the importance of immunoregulatory cells such as CD4+CD25+ regulatory T cells

Evaluatieve eigenschappen van de Nederlandse versie Vande Two-Minute Step Test bij intramuraal wonende ouderen

Achtergrond: De Two-Minute Step Test (TMST) is een meetinstrument gericht op het beoordelen van uithoudingsvermogen. Verscheidene psychometrische eigenschappen van de TMST-NL (Nederlands vertaalde versie) zijn onderzocht bij intramuraal wonende ouderen. De gevoeligheid voor verandering en de responsiviteit is bij deze patiëntenpopulatie nog niet vastgesteld. Doel: Het vaststellen van de gevoeligheid voor verandering en de responsiviteit (Minimal Clinical Important Difference) van de TMST-NL bij intramuraal wonende ouderen. Design: Prospectief responsiviteitsonderzoek. Methode: De onderzoekspopulatie bestond uit intramuraal wonende ouderen. Deelnemers hebben twee meetmomenten (T0 en T1) ondergaan waartussen ze drie maanden fysiotherapie gericht op uithoudingsvermogen ontvingen. Om de gevoeligheid van verandering te meten werd de distributie methode gebruikt waarbij de correlatie met de 6-minuten wandeltest (6MWT) werd getoetst. Via de anker methode met de Receiver Operating Characteristic (ROC) curve werd de MCID bepaald. Metingen voor het aerobe uithoudingsvermogen werden verricht met de TMST-NL en de 6-minuten wandeltest (6MWT). De Global Rating of Change (GRC) en de Borg Category-Ratio10 (BORG-CR10) werden gebruikt als subjectieve vragenlijsten om verandering van de gezondheidssituatie en vermoeidheid te meten. Resultaten: Intramurale ouderen (N=50) met een gemiddelde (SD) leeftijd van 83,96 jaar (6,96) zijn geïncludeerd. De correlatie tussen de verschilscores van de TMST-NL en de 6MWT over de deelnemerspopulatie die T1 ook hebben afgerond (N= 36) kwam uit op r=0.51 (P <0.05). Vanuit de ROC curve werd een MCID van 8,50 stappen berekend. De AUC-waarde was 0,74 (95% CI 0,54-0,94; P =0.02). Conclusie: De TMST-NL is gevoelig voor verandering en responsief bij intramuraal wonende ouderen. Echter doordat de MCID binnen de minimale meetfout (MDC) valt moeten de resultaten voor individuele evaluatie bij deze doelgroep met voorzichtigheid worden geïnterpreteerd

Increased B-type natriuretic peptide and decreased proteinuria might reflect decreased capillary leakage and is associated with a better outcome in patients with severe burns

INTRODUCTION: It is difficult to adjust fluid balance adequately in patients with severe burns due to various physical changes. B-type natriuretic peptide (BNP) is emerging as a potential marker of hydration state. Proteinuria is used as a predictor of outcome in severe illness and might correlate to systemic capillary leakage. This study investigates whether combining BNP and proteinuria can be used as a guide for individualized resuscitation and as a predictor of outcome in patients with severe burns. METHODS: From 2006 to 2009, 38 consecutive patients (age 47 ± 15 years, 74% male) with severe burns were included and followed for 20 days. All had normal kidney function at admission. BNP and proteinuria were routinely measured. Ordered and actually administered fluid resuscitation volumes were recorded. The Sequential Organ Failure Assessment (SOFA) score was used as the measure of outcome. RESULTS: BNP increased during follow-up, reaching a plateau level at Day 3. Based on median BNP levels at Day 3, patients were divided into those with low BNP and those with high BNP levels. Both groups had comparable initial SOFA scores. Patients with high BNP received less fluid from Days 3 to 10. Furthermore, patients with a high BNP at Day 3 had less morbidity, reflected by lower SOFA scores on the following days. To minimize effects of biological variability, proteinuria on Days 1 and 2 was averaged. By dividing the patients based on median BNP at Day 3 and median proteinuria, patients with high BNP and low proteinuria had significantly lower SOFA scores during the entire follow-up period compared to those patients with low BNP and high proteinuria. CONCLUSIONS: Patients with higher BNP levels received less fluid. This might be explained by a lower capillary leakage in these patients, resulting in more intravascular fluid and consequently an increase in BNP. In combination with low proteinuria, possibly reflecting minimal systemic capillary leakage, a high BNP level was associated with a better outcome. BNP and proteinuria have prognostic potential in severely burned patients and may be used to adjust individual resuscitation

Single cartridge for multiple detection modalities

The present invention relates to a sensor cartridge (100) comprising: a sample depot (10) which is configured to store a liquid sample; a first cartridge portion(20) comprising a first measurement chamber (22) which is coupled to the sample depot (10) and configured to receive a quantity of the liquid sample from the sample depot (10), wherein the first cartridge portion(20) is configured to measure a first analyte using a first modality on the quantity of the liquid sample and to provide a first analyte test signal; a cartridge portion (30-1) comprising a second measurement chamber (32-1) which is coupled to the first measurement chamber (20), which is configured to receive the quantity of the liquid sample from the first measurement chamber (22), wherein the cartridge portion(30) is configured to measure a second analyte using a second modality on the quantity of the liquid sample and to provide a second analyte test signal