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Sökning: WFRF:(Tekgul S)

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  • Alpman, A, et al. (författare)
  • Multidrug resistance 1 (MDR1) gene polymorphisms in childhood drug-resistant epilepsy
  • 2010
  • Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 25:12, s. 1485-1490
  • Tidskriftsartikel (refereegranskat)abstract
    • Despite considerable progress in the pharmacotherapy of epilepsy, more than 30% of patients are reported to be resistant to antiepileptic drugs. Multidrug resistance 1 (MDR1) gene could play a role in drug resistance in epilepsy. In this study, the authors investigated the association between the MDR1 gene polymorphisms, C3435T and G2677AT, and drug resistance epilepsy by using polymerase chain reaction/restriction fragment length polymorphism and pyrosequencing methods in a group of 39 patients with drug-resistant epilepsy and 92 controls. No associations were found between the polymorphisms of the MDR1 gene and drug-resistant epilepsy. Haplotype analysis showed no significant association. Compound genotype analysis showed that CC3435/GG2677 was significantly higher in the control group compared to the patient group. In conclusion, MDR1 polymorphisms investigated in this study are not associated with antiepileptic drug resistance, but the CC3435/GG2677 compound genotype might have an effect on antiepileptic drug response.
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3.
  • Nevéus, Tryggve, 1965-, et al. (författare)
  • Management and treatment of nocturnal enuresis-an updated standardization document from the International Children's Continence Society
  • 2020
  • Ingår i: Journal of Pediatric Urology. - : Elsevier BV. - 1477-5131 .- 1873-4898. ; 16:1, s. 10-19
  • Forskningsöversikt (refereegranskat)abstract
    • BackgroundEnuresis is an extremely common condition, which, although somatically benign, poses long-term psychosocial risks if untreated. There are still many misconceptions regarding the proper management of these children.AimA cross-professional team of experts affiliated with the International Children's Continence Society (ICCS) undertook to update the previous guidelines for the evaluation and treatment of children with enuresis.MethodsThe document used the globally accepted ICCS terminology. Evidence-based literature served as the basis, but in areas lacking in primary evidence, expert consensus was used. Before submission, a full draft was made available to all ICCS members for additional comments.ResultsThe enuretic child does, in the absence of certain warning signs (i.e., voiding difficulties, excessive thirst), not need blood tests, radiology or urodynamic assessment. Active therapy is recommended from the age of 6 years. The most important comorbid conditions to take into account are psychiatric disorders, constipation, urinary tract infections and snoring or sleep apneas. Constipation and daytime incontinence, if present, should be treated. In nonmonosymptomatic enuresis, it is recommended that basic advice regarding voiding and drinking habits be provided. In monosymptomatic enuresis, or if the above strategy did not make the child dry, the first-line treatment modalities are desmopressin or the enuresis alarm. If both these therapies fail alone or in combination, anticholinergic treatment is a possible next step. If the child is unresponsive to initial therapy, antidepressant treatment may be considered by the expert. Children with concomitant sleep disordered breathing may become dry if the airway obstruction is removed.
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