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- Dellenmark-Blom, Michaela, 1983, et al.
(författare)
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The Esophageal-Atresia-Quality-of-life Questionnaires: Feasibility, Validity and Reliability in Sweden and Germany.
- 2018
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Ingår i: Journal of pediatric gastroenterology and nutrition. - 1536-4801. ; 67:4, s. 469-477
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Tidskriftsartikel (refereegranskat)abstract
- Esophageal atresia (EA) is a rare malformation characterized of discontinuity of the esophagus, concurrent with or without a tracheoesophageal fistula (TEF). We report the feasibility validity and reliability of a condition-specific quality-of-life (QOL) tool for EA/TEF children, the age-adapted EA-QOL-questionnaires, when used in Sweden and Germany.A total of 124 families of children with EA/TEF participated in the study; 53 parents completed the EA-QOL-questionnaire for children aged 2 to 7 years; 62 children/71 parents the EA-QOL-questionnaire for children 8 to 17 years. Feasibility was determined from the percentage of missing item responses. Based on clinical data and previously validated generic QOL-instruments (PedsQL 4.0, DISABKIDS-12), the final EA-QOL scores were evaluated against hypotheses of validity (known-groups/concurrent/convergent) and reliability (internal consistency/retest reliability of scores for 3 weeks). Significant level was P < 0.05.In the questionnaire for EA/TEF children aged 2 to 7 years, 16/18 items were completed with missing values <6% (range 0%-7.5%), and in the questionnaire for 8 to 17-year-olds, 24/24 child-reported items (range 0%-4.8%) and 21/24 parent-reported items (range 0%-7.0%). In both age-specific EA-QOL-questionnaires, desirable standards for known-groups and concurrent validity were fulfilled; digestive symptoms and feeding difficulties negatively impacted EA-QOL-Total-scores (P < 0.001), and as hypothesized, in 2 to 7-year-olds, respiratory symptoms decreased EA-QOL-Total-scores (P=0.002). Correlations between the EA-QOL and generic QOL questionnaires supported convergent validity. Internal consistency reliability was satisfactory. The level of agreements of EA-QOL-scores between the field- and retest study were good to excellent.The overall psychometric performance of the EA-QOL-questionnaires for EA/TEF children is satisfactory and can enhance outcome evaluations in future research and clinical practice.
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Lärande och kommunikations doktorandsymposium 2023 : Abstrakt bok
- 2023
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Proceedings (redaktörskap) (övrigt vetenskapligt/konstnärligt)abstract
- Förord:Lärande och kommunikations doktorandsymposium 2023 organiserades av HLKs Doktorandpodd. Symposiets syfte var att kommunicera och synliggöra specifikt HLK´s doktoranders pågående forskning i sitt lokala sammanhang.Villkoret för att få medverka vid symposiet var att doktoranderna skulle vara inskrivna vid någon av Högskolan förLärande och Kommunikations (HLK) forskarutbildningar samt ett på förhand inskickat abstract. Instruktionerna för de abstract vi frågade efter innehöll endast en begränsning av ord (150–300). Sedan var det upp till varje doktorand att utforma sitt abstract efter eget tycke och smak. Det är också dessa abstract som presenteras i den här boken.Symposiet gick av stapeln torsdagen 14 december 2023 och genomfördes i hybrid form. Charlotta Mellander, professor vid Jönköping International Business School (JIBS), var keynote speaker och berättade utifrån sina erfarenheter om alternativa möjligheter för forskare att nå ut med sin forskning till en bredare publik. Därefter presenterade tio doktorander sina forskningsprojekt. Efter varje presentation fick symposiets åhörare tillfälle till att ställa frågor. I vårt poddavsnitt 19 pratar vi mer om symposiet.Symposiet sponsrades med fika av HLKs doktorandorganisation men organiserades alltså av HLKs Doktorandpoddsmedlemmar Karen Ann Blom, Josefin Rostedt och Jens Alvén Sjöberg.Abstrakt boken ges ut av HLKs doktorandpodd vid Jönköping University och har designats av Jens Alvén Sjöberg.
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- Marcus, Claude, et al.
(författare)
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Insufficient ketone body use is the cause of ketotic hypoglycemia in one of a pair of homozygotic twins
- 2007
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 92:11, s. 4080-4084
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Tidskriftsartikel (refereegranskat)abstract
- Context: Childhood ketotic hypoglycemia (KH) is a disease characterized by fasting hypoglycemia and increased levels of ketone bodies. The cause is unknown. Objective: The objective of the study was to study a pair ofhomozygotic twin boys, one of whom had severe KH from the age of 14 months, whereas the other boy was apparently healthy. Design and Results: At the age of 6 yr, the boys were thoroughly investigated. During a 24-h fasting tolerance test, the twin with KH showed hypoglycemia (blood glucose 2.0 mmol/liter) after 18 h. Three h before the occurrence of hypoglycemia, he had had 10 times higher β-hydroxybutyrate levels than his brother, who showed no signs of hypoglycemia. Their glucose production rates were normal and similar (23.3 and 21.7 μmol/kg body weight per minute in the healthy and KH twin, respectively) as well as their lipolysis rates (5.8 and 6.8 μmol/kg body weight per minute, respectively). During repeated 60-min infusions of p-hydroxybutyrate, the plasma level of /3-hydroxybutyrate increased 5-10 times more in the twin with KH (mean 1.1 mmol/liter in the healthy and 10.8 mmol/liter in the KH twin), indicating a disturbed clearance or metabolism of β-hydroxybutyrate. No mutations were found in genes involved in ketone body metabolism or transport. Conclusion: In the affected boy, KH seems to be the result of a reduced capacity to use ketone bodies, leading to increased peripheral metabolism of glucose that cannot be met by hepatic glucose production. Because the boys are homozygotic twins and only one of them is affected, the ketotic hypoglycemia is most likely caused by an altered imprinting of gene(s) involved in regulating metabolic pathways.
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- Mold, Jeff E., et al.
(författare)
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Clonally heritable gene expression imparts a layer of diversity within cell types
- 2024
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Ingår i: Cell systems. - : Elsevier BV. - 2405-4720. ; 15:2, s. 149-
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Tidskriftsartikel (refereegranskat)abstract
- Cell types can be classified according to shared patterns of transcription. Non-genetic variability among individual cells of the same type has been ascribed to stochastic transcriptional bursting and transient cell states. Using high-coverage single-cell RNA profiling, we asked whether long-term, heritable differences in gene expression can impart diversity within cells of the same type. Studying clonal human lymphocytes and mouse brain cells, we uncovered a vast diversity of heritable gene expression patterns among different clones of cells of the same type in vivo. We combined chromatin accessibility and RNA profiling on different lymphocyte clones to reveal thousands of regulatory regions exhibiting interclonal variation, which could be directly linked to interclonal variation in gene expression. Our findings identify a source of cellular diversity, which may have important implications for how cellular populations are shaped by selective processes in development, aging, and disease. A record of this paper's transparent peer review process is included in the supplemental information.
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- Nilsson, Hans-Olof, et al.
(författare)
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Effect of Cold Starvation, Acid Stress, and Nutrients on Metabolic Activity of Helicobacter pylori.
- 2002
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Ingår i: Applied and Environmental Microbiology. - 0099-2240. ; 68:1, s. 11-19
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Tidskriftsartikel (refereegranskat)abstract
- Helicobacter pylori can transform, in vivo as well as in vitro, from dividing spiral-shaped forms into nonculturable coccoids, with intermediate forms called U forms. The importance of nonculturable coccoid forms of H. pylori in disease transmission and antibiotic treatment failures is unclear. Metabolic activities of actively growing as well as nonculturable H. pylori were investigated by comparing the concentrations of cellular ATP and total RNA, gene expression, presence of cytoplasmic polyphosphate granules and iron inclusions, and cellular morphology during extended broth culture and nutritional cold starvation. In addition, the effect of exposing broth-cultured or cold-starved cells to a nutrient-rich or acidic environment on the metabolic activities was investigated. ATP was detectable up to 14 days and for at least 25 days after transformation from the spiral form to the coccoid form or U form in broth-cultured and cold-starved cells, respectively. mRNAs of VacA, a 26-kDa protein, and urease A were detected by using reverse transcription-PCR in cells cultured for 2 months in broth or cold starved for at least 28 months. The ATP concentration was not affected during exposure to fresh or acidified broth, while 4- to 12-h exposures of nonculturable cells to lysed human erythrocytes increased cellular ATP 12- to 150-fold. Incubation of nonculturable cold-starved cells with an erythrocyte lysate increased total RNA expression and ureA mRNA transcription as measured by quantitative real-time reverse transcription-PCR. Furthermore, the number of structurally intact starved coccoids containing polyphosphate granules increased almost fourfold (P = 0.0022) under the same conditions. In conclusion, a specific environmental stimulus can induce ATP, polyphosphate, and RNA metabolism in nonculturable H. pylori, indicating viability of such morphological forms.
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