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- Buchmayer, Susanne, et al.
(författare)
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Can Association Between Preterm Birth and Autism be Explained by Maternal or Neonatal Morbidity?
- 2009
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Ingår i: Pediatrics. - : American Academy of Pediatrics (AAP). - 0031-4005 .- 1098-4275. ; 124:5, s. E817-E825
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: We examined whether an association between preterm birth and risk of autistic disorders could be explained by pregnancy complications or neonatal morbidity. METHODS: This Swedish, population-based, case-control study included 1216 case subjects with autistic disorders who were born between 1987 and 2002 and 6080 control subjects who were matched with respect to gender, birth year, and birth hospital. We assessed associations between gestational age and autistic disorders and adjusted for maternal, birth, and neonatal characteristics. Conditional logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs). RESULTS: Compared with infants born at term, the unadjusted ORs for autistic disorders among very and moderately preterm infants were 2.05 [95% CI: 1.26-3.34] and 1.55 [95% CI: 1.22-1.96], respectively. When we controlled for maternal, pregnancy, and birth characteristics, ORs were reduced to 1.48 [95% CI: 0.77-2.84] and 1.33 [95% CI: 0.98-1.81], respectively. When we also controlled for neonatal complications, ORs were 0.98 [95% CI: 0.45-2.16] and 1.25 [95% CI: 0.90-1.75], respectively. Reductions in risks of autistic disorders related to preterm birth were primarily attributable to preeclampsia, small-for-gestational age birth, congenital malformations, low Apgar scores at 5 minutes, and intracranial bleeding, cerebral edema, or seizures in the neonatal period. Neonatal hypoglycemia, respiratory distress, and neonatal jaundice were associated with increased risk of autistic disorders for term but not preterm infants. CONCLUSION: The increased risk of autistic disorders related to preterm birth is mediated primarily by prenatal and neonatal complications that occur more commonly among preterm infants.
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| 2. |
- El Jellas, Khadija, et al.
(författare)
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Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis : How to Correctly Identify MODY8 Cases
- 2022
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 107:4, s. 1455-1466
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Tidskriftsartikel (refereegranskat)abstract
- Context: Maturity onset diabetes of the young, type 8 (MODY8) is associated with mutations in the CEL gene, which encodes the digestive enzyme carboxyl ester lipase. Several diabetes cases and families have in recent years been attributed to mutations in CEL without any functional or clinical evidence provided. Objective: To facilitate correct MODY8 diagnostics, we screened 2 cohorts of diabetes patients and delineated the phenotype. Methods: Young, lean Swedish and Finnish patients with a diagnosis of type 2 diabetes (352 cases, 406 controls) were screened for mutations in the CEL gene. We also screened 58 Czech MODY cases who had tested negative for common MODY genes. For CEL mutation-positive subjects, family history was recorded, and clinical investigations and pancreatic imaging performed. Results: Two cases (1 Swedish and 1 Czech) with germline mutation in CEL were identified. Clinical and radiological investigations of these 2 probands and their families revealed dominantly inherited insulin-dependent diabetes, pancreatic exocrine dysfunction, and atrophic pancreas with lipomatosis and cysts. Notably, hereditary pancreatitis was the predominant phenotype in 1 pedigree. Both families carried single-base pair deletions in the proximal part of the CEL variable number of tandem repeat (VNTR) region in exon 11. The mutations are predicted to lead to aberrant protein tails that make the CEL protein susceptible to aggregation. Conclusion: The diagnosis of MODY8 requires a pancreatic exocrine phenotype and a deletion in the CEL VNTR in addition to dominantly inherited diabetes. CEL screening may be warranted also in families with hereditary pancreatitis of unknown genetic etiology.
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| 3. |
- Elmroth, Erik, 1964-, et al.
(författare)
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Orbit and Bundle Stratification for Controllability and Observability Matrix Pairs in StratiGraph
- 2004
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Ingår i: Proceedings of the 16th International Symposium on Mathematical Theory of Networks and Systems (MTNS). ; , s. 1-9
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Konferensbidrag (refereegranskat)abstract
- The canonical structures of controllability and observability pairs (A,B) and (A,C) associated with a state-space system are studied under small perturbations. We show how previous work for general matrix pencils can be applied to the stratification of orbits and bundles of matrix pairs. A stratification provides qualitative information about the closure relation between canonical structures.We also present how the new results are used in StratiGraph, which is a software tool for computing and visualizing closure hierarchies.
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| 4. |
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| 5. |
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| 6. |
- Evander, Mikael, et al.
(författare)
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Acoustic trapping of cells in a microfluidic format
- 2005
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Ingår i: Proceedings of µTAS 2005 Conference. ; 1, s. 515-517
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Konferensbidrag (refereegranskat)abstract
- This paper presents, for the first time, non-contact acoustic trapping of cells in a microfluidic format. The employed acoustic force maintains the cells in the center of a fluidic channel while allowing for perfusion of e.g. nutrients or drugs as well as optical monitoring of the cells. Neural stem cells have been acoustically trapped and tested for viability after 15 minutes of ultrasonic radiation. It is also shown that it is possible to grow yeast cells suspended in an acoustic standing wave while perfusing with cell media.
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| 7. |
- Evander, Mikael, et al.
(författare)
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Acoustic Trapping: System Design, Optimization and Applications
- 2006
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Ingår i: Proceedings of the sixth Micro Structure Workshop. ; 1, s. 33-33
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Konferensbidrag (refereegranskat)abstract
- Manipulation, separation and trapping of particles and cells are very important tools in today's bioanalytical and medical field. The acoustic no-contact trapping method presented at earlier MSW 2004 provides a flexible platform for performing cell and particle assays in a perfusion-based microsystem. To further develop the system microfabricated glass channels are now used, resulting in shorter fabrication times and a very inert channel material. The fluidic design has been revised to minimise the risks of leaking and hydrodynamic focusing has been incorporated to ensure a high trapping efficiency. A change of piezoelectric materials has resulted in less thermal losses in the material, higher reproducibility and shorter manufacturing time. The trapping force was estimated by calculating the fluid force exerted on a single particle levitated in the standing wave as a reference. The temperature increase due to the losses in the transducer was measured using a fluorescent dye, indicating a maximum temperature increase of 10 degrees Celsius. Live cells have been trapped and shown to be viable while still suspended in the standing wave, thus making it possible to do on-line studies on, for example, drug response of cell populations.
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| 8. |
- Evander, Mikael, et al.
(författare)
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Noninvasive acoustic cell trapping in a microfluidic perfusion system for online bioassays
- 2007
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Ingår i: Analytical Chemistry. - : American Chemical Society (ACS). - 0003-2700 .- 1520-6882. ; 79:7, s. 2984-2991
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Tidskriftsartikel (refereegranskat)abstract
- Techniques for manipulating, separating, and trapping particles and cells are highly desired in today's bioanalytical and biomedical field. The microfluidic chip-based acoustic noncontact trapping method earlier developed within the group now provides a flexible platform for performing cell- and particle-based assays in continuous flow microsystems. An acoustic standing wave is generated in etched glass channels (600x61 microm2) by miniature ultrasonic transducers (550x550x200 microm3). Particles or cells passing the transducer will be retained and levitated in the center of the channel without any contact with the channel walls. The maximum trapping force was calculated to be 430+/-135 pN by measuring the drag force exerted on a single particle levitated in the standing wave. The temperature increase in the channel was characterized by fluorescence measurements using rhodamine B, and levels of moderate temperature increase were noted. Neural stem cells were acoustically trapped and shown to be viable after 15 min. Further evidence of the mild cell handling conditions was demonstrated as yeast cells were successfully cultured for 6 h in the acoustic trap while being perfused by the cell medium at a flowrate of 1 microL/min. The acoustic microchip method facilitates trapping of single cells as well as larger cell clusters. The noncontact mode of cell handling is especially important when studies on nonadherent cells are performed, e.g., stem cells, yeast cells, or blood cells, as mechanical stress and surface interaction are minimized. The demonstrated acoustic trapping of cells and particles enables cell- or particle-based bioassays to be performed in a continuous flow format.
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| 9. |
- Evander, Mikael, et al.
(författare)
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Versatile microchip utilising ultrasonic standing waves
- 2005
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Ingår i: IFMBE Proceedings 2005. ; , s. 123-124
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Konferensbidrag (refereegranskat)abstract
- This paper presents the concept and initial work on a microfluidic platform for bead-based analysis of biological sample. The core technology in this project is ultrasonic manipulation and trapping of particle in array configurations by means of acoustic forces. The platform is ultimately aimed for parallel multistep bioassays performed on biochemically activated microbeads (or particles) using submicrolitre sample volumes. A first prototype with three individually controlled particle trapping sites has been developed and evaluated. Standing ultrasonic waves were generated across a microfluidic channel by integrated PZT ultrasonic microtransducers. Particles in a fluid passing a transducer were drawn to pressure minima in the acoustic field, thereby being trapped and confined laterally over the transducer. It is anticipated that acoustic trapping using integrated transducers can be exploited in miniaturised total chemical analysis systems (µTAS), where e.g. microbeads with immobilised antibodies can be trapped in arrays and subjected to minute amounts of sample followed by a reaction, detected using fluorescence. Preliminary results indicate that the platform is capable of handling live cells as well as microbeads. A first model bioassay with detection of fluorescein marked avidin binding to trapped biotin beads has been evaluated.
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