11 research outputs found

    Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors

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    Selective serotonin reuptake inhibitors (SSRIs) are primary treatment options for major depressive and anxiety disorders. CYP2D6 and CYP2C19 polymorphisms can influence the metabolism of SSRIs, thereby affecting drug efficacy and safety. We summarize evidence from the published literature supporting these associations and provide dosing recommendations for fluvoxamine, paroxetine, citalopram, escitalopram, and sertraline based on CYP2D6 and/or CYP2C19 genotype (updates at www.pharmgkb.org)

    Developmental assessment of infants with biliary atresia: differences between boys and girls

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    The aim of the present study was to investigate whether male and female infants with biliary atresia (BA) differ cognitively and to confirm previously documented developmental lags in infants with BA before liver transplantation

    Language and motor skills are impaired in infants with biliary atresia before transplantation

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    OBJECTIVE: To test the hypothesis that in very young patients with biliary atresia, cognitive deficits are apparent before transplantation. STUDY DESIGN: With the Mullen Scales of Early Learning (Mullen), we examined 15 infants (mean age, 7.8 months) with biliary atresia, correlating Mullen scores with standard clinical and biochemical parameters. RESULTS: Overall, participants displayed significant delays in gross motor and language skills, and fine motor and visual reasoning skills were relatively preserved. The international normalized ratio correlated inversely with gross (P < .01) and fine (P < .05) motor skills. Growth parameters correlated positively with expressive language ability, but length of hospitalization and mode of feeding did not. Age at performance of the Kasai procedure was found to correlate with receptive language performance (P < .05). CONCLUSIONS: Very young children with biliary atresia display a characteristic profile of early developmental deficits before transplantation. These findings suggest that early intervention and aggressive nutritional management should be the standard of care to minimize neurocognitive effects

    Neuropsychological functioning in preschool-aged children undergoing evaluation for organ transplant

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    Objective: The purpose of this study was to review the current literature on neuropsychological functioning in two groups of children requiring organ transplants (liver or heart) and present recent clinical data collected through the liver and cardiac transplantation programs at a large pediatric academic medical center. Method: Data included in this study came from 18 patients who completed evaluations for heart transplant (n = 8) or liver transplant (n = 10) between the ages of 2 and 6 years (inclusive). Measures examining neurocognitive, emotional-behavioral, and adaptive functioning were collected as part of standard pre-transplant clinical neuropsychological evaluations. Within each organ group, mean scores were calculated and compared with normative population mean scores using one sample t-tests. In addition, non-parametric binomial tests were calculated to examine whether the proportion of individuals falling more than one standard deviation below the population mean was significantly greater in the patient groups than the normative population base rate of 16%. Results: Patients in both groups performed below normative expectation in several neurocognitive and adaptive domains. However, neither group showed significant difficulties in behavioral or emotional regulation. Conclusions: Results from this study document cognitive delays in preschool-aged children undergoing evaluations for liver transplant or heart transplant, highlighting the importance of intervention and long-term monitoring of these two patient populations, as well as the need for neuropsychologist involvement with transplant teams

    Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders : a successful strategy for clinical research of rare diseases

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