| 1. |
- Bergman, Annika, et al.
(författare)
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Germline mutation screening of the Saethre-Chotzen-associated genes TWIST1 and FGFR3 in families with BRCA1/2-negative breast cancer
- 2009
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Ingår i: Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery. - : Taylor & Francis. - 0284-4311 .- 1651-2073. ; 43:5, s. 251-255
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Tidskriftsartikel (refereegranskat)abstract
- Saethre-Chotzen syndrome is one of the most common craniosynostosis syndromes. It is an autosomal dominantly inherited disorder with variable expression that is caused by germline mutations in the TWIST1 gene or more rarely in the FGFR2 or FGFR3 genes. We have previously reported that patients with Saethre-Chotzen syndrome have an increased risk of developing breast cancer. Here we have analysed a cohort of 26 women with BRCA1/2-negative hereditary breast cancer to study whether a proportion of these families might have mutations in Saethre-Chotzen-associated genes. DNA sequence analysis of TWIST1 showed no pathogenic mutations in the coding sequence in any of the 26 patients. MLPA (multiplex ligation-dependent probe amplification)-analysis also showed no alterations in copy numbers in any of the craniofacial disorder genes MSX2, ALX4, RUNX2, EFNB1, TWIST1, FGFR1, FGFR2,FGFR3, or FGFR4. Taken together, our findings indicate that mutations in Saethre-Chotzen-associated genes are uncommon or absent in BRCA1/2-negative patients with hereditary breast cancer.
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| 2. |
- Cassuto, Jean, et al.
(författare)
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Adrenoceptor subtypes in the control of burn-induced plasma extravasation.
- 2005
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Ingår i: Burns : journal of the International Society for Burn Injuries. - : Elsevier BV. - 0305-4179. ; 31:2, s. 123-9
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Tidskriftsartikel (refereegranskat)abstract
- Burn trauma is known to induce a significant rise in circulating catecholamine levels and despite catecholamines being potent endogenous vasoactive agents with known actions on microvascular permeability, their effect on burn edema has been poorly investigated. The present study in rats investigated the role and importance of adrenergic receptor subtypes in the regulation of basal capillary permeability in normal skin and hyperpermeability in partial- and full-thickness skin burns. Edema was quantified by spectrophotometric analysis of extravasated Evans blue-albumin. Evaluation was based on intravenous administration of the following adrenergic agonists and antagonists: l-phenylephrine (alpha(1)-receptor agonist), prazosin (alpha(1)-receptor antagonist), clonidine (alpha(2)-receptor agonist), yohimbine (alpha(2)-receptor antagonist), prenalterol (beta(1)-receptor agonist), terbutaline (beta(2)-receptor agonist), or propranolol (beta(1)- and beta(2)-receptor antagonist). Results showed increased capillary permeability in normal skin following administration of terbutaline (p<0.01) and yohimbine (p<0.01). In partial-thickness burns, clonidine significantly (p<0.05) reduced edema formation, whereas in full-thickness burns edema was significantly reduced by clonidine (p<0.05) and l-phenylephrine (p<0.01). In conclusion, the inhibition of postburn edema induced by stimulation of alpha(1)-receptors (l-phylephrine) and alpha(2)-receptors (clonidine) could be secondary to increased vascular resistance and reduced tissue perfusion pressure and/or suppressed inflammatory reaction in the burn injury. In the treatment of burn patients, clonidine is particularly interesting since the agent has previously been proven to induce potent analgesia in thermally injured.
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| 3. |
- Cassuto, Jean, et al.
(författare)
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Regulation of postburn ischemia by alpha- and beta-adrenoceptor subtypes.
- 2005
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Ingår i: Burns : journal of the International Society for Burn Injuries. - : Elsevier BV. - 0305-4179. ; 31:2, s. 131-7
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Tidskriftsartikel (refereegranskat)abstract
- Deep skin burns are characterised by progressive ischemia secondary to vasoconstriction and thrombosis formation. Burn trauma elicits increased sympathetic activity and elevation of circulating catecholamines acting on adrenoceptors in vascular tissue playing an important role in the regulation of organ blood flow. The present study in rats investigated the role of alpha- and beta-adrenoceptors in the circulatory changes taking place in normal skin and in partial- and full-thickness skin burns using laser Doppler flowmetry. Evaluation was based on intravenous administration of the following adrenergic agonists and antagonists: l-phenylephrine (alpha(1)-agonist), prazosin (alpha(1)-antagonist), clonidine (alpha(2)-agonist), yohimbine (alpha(2)-antagonist), prenalterol (beta(1)-agonist), terbutaline (beta(2)-agonist), and propranolol (beta(1)- and beta(2)-antagonist). Blood flow in normal skin was reduced by phenylephrine (p<0.001), clonidine (p<0.001) and propranolol (p<0.01), and increased by prazosin (p<0.05), yohimbine (p<0.05), prenalterol (p<0.05) and terbutaline (p<0.01). In partial-thickness burns, blood flow was reduced by phenylephrine (p<0.01), clonidine (p<0.01) and propranolol (p<0.05). In full-thickness burns, only clonidine reduced perfusion (p<0.05). In conclusion, beta(1)- and beta(2)-adrenoceptors play important role in the physiological regulation of skin perfusion but are of lesser importance for postburn skin perfusion. Vasoconstrictive alpha(1)- and alpha(2)-adrenoceptors were shown to be tonically active in normal skin and in partial-thickness burns, exerting a negative effect on skin perfusion which was further potentiated by exogenous administration of alpha(1)- and alpha(2)-agonists and reversed by selective alpha-blockers. In full-thickness burns, activation of alpha(2)-receptors was shown to significantly impair skin circulation, raising a flag of warning for the use of clonidine to treat pain in burn patients.
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| 4. |
- Maltese, Giovanni, 1974, et al.
(författare)
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Spring-assisted correction of hypotelorism in metopic synostosis.
- 2007
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Ingår i: Plastic and reconstructive surgery. - : Ovid Technologies (Wolters Kluwer Health). - 1529-4242 .- 0032-1052. ; 119:3, s. 977-84
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Metopic synostosis, apart from the pointed forehead, typically is characterized by hypotelorism with egg-shaped orbits on cephalography and the frontoorbital axis parallel or even converging superiorly. The frontoorbital axis angle is a novel parameter for analyzing and describing the orientation of the orbits. Current methods of surgery often result in undercorrection of the almost ever-present hypotelorism. The present study was performed to analyze a new technique, capable in this respect, using steel wire springs in conjunction with a cranioplasty. METHODS: A retrospective study of 23 metopic synostosis patients operated on between 1999 and 2004 was conducted. A strip midline craniectomy and frontal reshaping were combined with the insertion of a steel wire spring across the midline craniectomy, forcing lateral displacement of the orbits. Preoperative and postoperative follow-up cephalograms were obtained, and the bony medial interorbital distance was measured and compared with the bony medial interorbital distance of a control group. Perioperative data and complications were noted. RESULTS: Preoperative mean bony interorbital distance was 10.6 mm (range, 7.7 to 13.2 mm). It increased to 15.7 mm (range, 10.4 to 22 mm) at 1.5 months postoperatively and to 16.2 mm (range, 10.9 to 24.5 mm) 5 months postoperatively. Results as judged clinically ranged from little effect to a definitive overcorrection. The frontoorbital axis was improved in every case. Average frontoorbital axis was -4 degrees (range, -33 to 23 degrees) preoperatively and 28 degrees (range, 11 to 46 degrees) postoperatively. CONCLUSION: It was concluded that a spring used together with a cranioplasty is a powerful tool for the correction of both hypotelorism and orbital shape in trigonocephaly.
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| 5. |
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| 6. |
- Tarnow, Peter, 1963, et al.
(författare)
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[Disaster planning--lessons learned from the fire disaster in Gothenburg]
- 2005
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Ingår i: Läkartidningen. - 0023-7205. ; 102:4
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Tidskriftsartikel (refereegranskat)abstract
- The tragic fire disaster in Sweden 1998, killing 63 and wounding 213 teenagers was the result of arson fire in the basement of an overcrowded discotheque. Since the disaster occurred in a major city with substantial resources, all the injured could be hospitalised within two hours. The load on four local hospitals was initially severe due to the large number of injured. The patients suffered from inhalation injuries of different severity, whereas 25 of them also had deep skin burn injuries. Thirteen of the most severe burn injuries were transported to burn units in other parts of Sweden and to Norway. The vast psychosocial rehabilitation program initiated by health care staff, religious communions, schools and the community, has continued over the past years. This fire disaster emphasises the need for extensive preparation not only in the rescue and medical services, but also in many other areas of society.
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