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| 12. |
- Thuresson, Marie, 1963-
(författare)
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The initial phase of an acute coronary syndrome : symptoms, patients' response to symptoms and opportunity to reduce time to seek care and to increase ambulance use
- 2012
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- This thesis aims to describe the initial phase of an acute coronary syndrome (ACS) in overall terms from a national perspective and to evaluate the impact of an information campaign designed to inform the public about how to act when suspecting an ACS. A total of 1939 patients at 11 hospitals in Swedenwith diagnosed ACS and symptom onset outside hospital completed a questionnaire(I-IV).In Study V, a questionnaire was completed by 116 patients withACS before the campaign and 122 after it. Register data were followed every year to evaluate ambulance use and emergency department (ED) visits. With regard to symptoms, patients with ST-elevation ACS (STE-ACS) more frequently had associated symptoms and pain with an abrupt onset reaching maximum intensity within minutes. However, fewer than half the patients with STE-ACS had this type of symptom onset. There were more similarities than differences between genders and differences between age groups were minor (I). Three-quarters of the patients interpreted the symptoms as cardiac in origin. The majority contacted a family member after symptom onset, whereas few called directly for an ambulance. Approaching someone after symptom onset and the belief that the symptoms were cardiac in origin were factors associated with a shorter pre-hospital delay (II). Half the patients went to hospital by ambulance. Independent factors for ambulance use were knowledge of the importance of quickly seeking medical care and calling for an ambulance when experiencing chest pain, severe symptoms, abrupt onset of pain, STE-ACS, increasing age and distance to hospital of > 5 km. Reasons for not calling for an ambulance were thinking self-transport would be faster or not being ill enough (III). Pain with abrupt onset, STE-ACS, symptoms such as vertigo or near syncope, experiencing the pain as frightening, interpreting the pain as cardiac in origin and knowledge were major factors associated with a short delay between symptom onset and decision to seek medical care, patient decision time (IV). The information campaign did not result in a reduction in patient decision time, but it appeared to increase ambulance use and the number of patients seeking the ED for acute chest pain (V).
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| 13. |
- Wentzel, Christian, et al.
(författare)
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Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11
- 2011
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 19:9, s. 959-964
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Tidskriftsartikel (refereegranskat)abstract
- With the clinical implementation of genomic microarrays, the detection of cryptic unbalanced rearrangements in patients with syndromic developmental delay has improved considerably. Here we report the molecular karyotyping and phenotypic description of six new unrelated patients with partially overlapping microdeletions at 10p12.31p11.21 ranging from 1.0 to 10.6 Mb. The smallest region of overlap is 306 kb, which includes WAC gene, known to be associated with microtubule function and to have a role in cell division. Another patient has previously been described with a 10Mb deletion, partially overlapping with our six patients. All seven patients have developmental delay and a majority of the patients have abnormal behaviour and dysmorphic features, including bulbous nasal tip, deep set eyes, synophrys/thick eyebrows and full cheeks, whereas other features varied. All patients also displayed various visual impairments and six out of seven patients had cardiac malformations. Taken together with the previously reported patient, our study suggests that the detected deletions may represent a new contiguous gene syndrome caused by dosage-sensitive genes that predispose to developmental delay.
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