| 1. |
- Carroll, L. J., et al.
(författare)
-
Prognosis for mild traumatic brain injury : Results of the WHO Collaborating Centre Task Force on Mild Traumatic Brain Injury
- 2004
-
Ingår i: Journal of Rehabilitation Medicine. - : Medical Journals Sweden AB. - 1650-1977 .- 1651-2081. ; 43, s. 61-
-
Forskningsöversikt (refereegranskat)abstract
- We searched the literature on the epidemiology, diagnosis, prognosis, treatment and costs of mild traumatic brain injury. Of 428 studies related to prognosis after mild traumatic brain injury, 120 (28%) were accepted after critical review. These comprise our best-evidence synthesis on prognosis after mild traumatic brain injury. There was consistent and methodologically sound evidence that children's prognosis after mild traumatic brain injury is good, with quick resolution of symptoms and little evidence of residual cognitive, behavioural or academic deficits. For adults, cognitive deficits and symptoms are common in the acute stage, and the majority of studies report recovery for most within 3-12 months. Where symptoms persist, compensation/litigation is a factor, but there is little consistent evidence for other predictors. The literature on this area is of varying quality and causal inferences are often mistakenly drawn from cross-sectional studies.
|
|
| 2. |
|
|
| 3. |
- Buckley, Patrick G, et al.
(författare)
-
A full-coverage, high-resolution human chromosome 22 genomic microarrayfor clinical and research applications
- 2002
-
Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 11:25, s. 3221-3229
-
Tidskriftsartikel (refereegranskat)abstract
- We have constructed the first comprehensive microarray representing a human chromosome for analysis of DNA copy number variation. This chromosome 22 array covers 34.7 Mb, representing 1.1% of the genome, with an average resolution of 75 kb. To demonstrate the utility of the array, we have applied it to profile acral melanoma, dermatofibrosarcoma, DiGeorge syndrome and neurofibromatosis 2. We accurately diagnosed homozygous/heterozygous deletions, amplifications/gains, IGLV/IGLC locus instability, and breakpoints of an imbalanced translocation. We further identified the 14-3-3 eta isoform as a candidate tumor suppressor in glioblastoma. Two significant methodological advances in array construction were also developed and validated. These include a strictly sequence defined, repeat-free, and non-redundant strategy for array preparation. This approach allows an increase in array resolution and analysis of any locus; disregarding common repeats, genomic clone availability and sequence redundancy. In addition, we report that the application of phi29 DNA polymerase is advantageous in microarray preparation. A broad spectrum of issues in medical research and diagnostics can be approached using the array. This well annotated and gene-rich autosome contains numerous uncharacterized disease genes. It is therefore crucial to associate these genes to specific 22q-related conditions and this array will be instrumental towards this goal. Furthermore, comprehensive epigenetic profiling of 22q-located genes and high-resolution analysis of replication timing across the entire chromosome can be studied using our array.
|
|
| 4. |
|
|
| 5. |
- Stocklassa, B, et al.
(författare)
-
Evaluation of a new X-ray fluorescent analysis technique for the creation of a Nordic hair database : Elemental distributions within the root and the virgin segment of hair fibers
- 2001
-
Ingår i: JOURNAL OF COSMETIC SCIENCE. - New York : Society of Cosmetic Chemists. - 0037-9832 .- 1525-7886. ; 117:3, s. 312-
-
Tidskriftsartikel (refereegranskat)abstract
- A new, non-destructive X-ray fluorescence technique for quantitative estimation of elemental content in biological tissues has been developed. Technical and instrumental characteristics of the ITRAX X-ray spectrometer have been evaluated in relation to the properties of biological samples, i.e., human hair fibers. Thus, attenuation variations of the fluorescent X-rays in the hair bulk mass were demonstrated by analysis of sulfur, calcium, and zinc in a virgin part near the root of one hair fiber with elliptical cross section. By rotation of the hair fiber and successive analyses made of the same part of the hair fiber, the results showed that concentrations of elements varied as functions of the diameter of the analyzed hair volume. Other sources of errors are also discussed. The ITRAX instrument allows for precise, fast, non-destructive, simultaneous, quantitative recording of the detected elements and trace elements down to levels of 1 ppm (mug/g). It was used fur assessment of normal values of physiologically important elements present in hair in a cohort of normal, healthy Swedish, Caucasian individuals. The database constructed from data retrieved from a conceivably homogenous ethnic set of individuals represents, to our knowledge, the first of its kind.
|
|
| 6. |
- Tuvemo, Torsten, et al.
(författare)
-
Final height after combined growth hormone and GnRH analogue treatment in adopted girls with early puberty
- 2004
-
Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 93:11, s. 1456-1462
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Girls adopted from developing countries often have early or precocious puberty, requiring treatment with gonadotrophin-releasing hormone (GnRH) analogues. During such treatment, decreased growth velocity is frequent. Aim: To study whether the addition of growth hormone (GH) to GnRH analogue treatment improves final height in girls with early or precocious puberty. Methods: Forty-six girls with early or precocious puberty (age ≤9.5 y) adopted from developing countries were randomized for treatment for 2-4 y with GnRH analogue, or with a combination of GH and GnRH analogue. Results: During treatment, the mean growth velocity in the GH/GnRH analogue group was significantly higher compared to the control group. Combined GH/GnRH analogue treatment resulted in a higher final height: 158.9 cm compared to 155.8 cm in the GnRH analogue-treated group. Three out of 24 girls (13%) in the combined group and nine of the 22 girls (41%) treated with GnRH analogue alone attained a final height below -2 standard deviation scores (SDS). Conclusion: The difference between the two groups is statistically significant, and possibly of clinical importance. A future challenge is to identify a subgroup with clinically significant advantage of GH addition to GnRH analogue treatment. Being very short on arrival in Sweden and being short and young at start of treatment are possible indicators.
|
|
| 7. |
- Frost, Britt-Marie, et al.
(författare)
-
Pharmacokinetics of doxorubicin in children with acute lymphoblastic leukemia: multi-institutional collaborative study.
- 2002
-
Ingår i: Medical and pediatric oncology. - : Wiley. - 0098-1532 .- 1096-911X. ; 38, s. 329-
-
Tidskriftsartikel (refereegranskat)abstract
- In adults, it has been shown that the pharmacokinetics of doxorubicin are highly variable, despite standardization of the dose based on body surface area (BSA). The purpose of this study was to determine the plasma concentrations of doxorubicin and its active metabolite doxorubicinol in children treated for acute lymphoblastic leukemia (ALL).
|
|
| 8. |
|
|
| 9. |
- Bruder, CEG, et al.
(författare)
-
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
- 2001
-
Ingår i: Human Molecular Genetics. - Oxford, United Kingdom : Oxford University Press. - 0964-6906 .- 1460-2083. ; 1, s. 271-
-
Tidskriftsartikel (refereegranskat)abstract
- Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder whose hallmark is bilateral vestibular schwannoma. It displays a pronounced clinical heterogeneity with mild to severe forms. The NF2 tumor suppressor (merlin/schwannomin) has been cloned and extensively analyzed for mutations in patients with different clinical variants of the disease. Correlation between the type of the NF2 gene mutation and the patient phenotype has been suggested to exist. However, several independent studies have shown that a fraction of NF2 patients with various phenotypes have constitutional deletions that partly or entirely remove one copy of the NF2 gene. The purpose of this study was to examine a 7 Mb interval in the vicinity of the NF2 gene in a large series of NF2 patients in order to determine the frequency and extent of deletions. A total of 116 NF2 patients were analyzed using high-resolution array-comparative genomic hybridization (CGH) on an array covering at least 90% of this region of 22q around the NF2 locus. Deletions, which remove one copy of the entire gene or are predicted to truncate the schwannomin protein, were detected in 8 severe, 10 moderate and 6 mild patients. This result does not support the correlation between the type of mutation affecting the NF2 gene and the disease phenotype. This work also demonstrates the general usefulness of the array-CON methodology for rapid and comprehensive detection of small (down to 40 kb) heterozygous and/or homozygous deletions occurring in constitutional or tumor-derived DNA.
|
|
| 10. |
- Holmbäck, Ulf, et al.
(författare)
-
Metabolic responses to nocturnal eating in men are affected by sources of dietary energy
- 2002
-
Ingår i: Journal of Nutrition. - : The American Society for Nutritional Sciences. - 0022-3166 .- 1541-6100. ; 107, s. 121-
-
Tidskriftsartikel (refereegranskat)abstract
- Because night work is becoming more prevalent, we studied whether feeding at different times of a 24-h period would elicit different metabolic responses and whether dietary macronutrient composition would affect these responses. Seven men (26-43 y, 19.9-26.6 kg/m(2)) consumed two isocaloric diets, in a crossover design. The diets were a high carbohydrate (HC) diet [65 energy % (E%) carbohydrates, 20E% fat] and a high fat (HF) diet (40E% carbohydrates, 45E% fat). After a 6-d diet-adjustment period, the men were kept awake for 24 h and the food (continuation of respective diet) was provided as six isocaloric meals (i.e., every 4 h). Energy and substrate turnover, heart rate, mean arterial pressure (MAP), blood glucose, triacylglycerol (TAG), nonesterified fatty acid (NEFA) and glycerol were measured throughout the 24-h period. Significantly higher energy expenditure and NEFA concentration, and lower blood glucose and TAG concentrations were observed when the men consumed the HF diet than when they consumed the HC diet. Significant circadian patterns were seen in body and skin temperature (nadir, 0400-0500 h). When the men consumed the HF diet, significant circadian patterns were seen in fat oxidation (nadir, 0800-1200 h; plateau, 1200-0800 h), heat release (nadir, 0800-1200 h; plateau, 1600-0800 h), heart rate (nadir, 0000 h), blood glucose (nadir, 0800-1200 h; peak, 0000-0400 h), NEFA (nadir, 0800-1200 h; peak, 1200-2000 h) and TAG (nadir, 0800-1200 h; peak, 0400-0800 h) concentrations. Energy expenditure, carbohydrate oxidation, MAP and glycerol concentration did not display circadian patterns. Unequal variances eradicated most circadian effects in the HC-diet data. The increased TAG concentration in response to feeding at 0400 h might be involved in the higher TAG concentrations seen in shift workers. Distinct macronutrient/circadian-dependent postprandial responses were seen in most studied variables.
|
|
