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1.
Cephalalgia ; 35(8): 722-7, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25304765

RESUMO

AIM: Migraine is known to run in families and has long been considered a strongly heritable disorder. This study sought to evaluate the relationship between age at onset of pediatric migraine and family history of migraine. METHODS: Review of the medical files of the headache clinic of a tertiary pediatric medical center yielded 344 children with migraine for whom details on migraine in family members were available. RESULTS: Mean age of the cohort was 11.69 ± 3.49 years, and mean frequency of headache per month, 13.68 ± 11.26. Mean age at migraine onset in patients with a negative parental history was10.48 ± 3.39 years; in patients with one parent with migraine, 8.84 ± 3.72 years; and in patients with both parents with migraine, 7.32 ± 3.22 years (p < 0.001).The duration of migraine attacks (in hours) was significantly longer in patients with any family member with migraine than in those with no family history (p = 0.026). CONCLUSIONS: Among children attending a tertiary pediatric headache clinic, migraine appears at a younger age in those with parental history of migraine than in those with a negative family history. The findings suggest that having a genetic background of migraine makes a child more susceptible to migraine earlier in life than a child without a family history.


Assuntos
Idade de Início , Transtornos de Enxaqueca/genética , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Transtornos de Enxaqueca/epidemiologia , Estudos Retrospectivos , Adulto Jovem
2.
J Lipid Res ; 55(2): 307-12, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24262094

RESUMO

Congenital pancreatic lipase (PNLIP) deficiency is a rare monoenzymatic form of exocrine pancreatic failure characterized by decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health. While considered to be an autosomal recessive state affecting a few dozens of individuals world-wide and involving the PNLIP gene, no causative mutations for this phenotype were so far reported. Here, we report the identification of the homozygote missense mutation, Thr221Met [c.662C>T], in two brothers from a consanguineous family of Arab ancestry. The observed genotypes among the family members were concordant with an autosomal recessive mode of inheritance but moreover a clear segregation between the genotype state and the serum PNLIP activity was evident. Based on biophysical computational tools, we suggest the mutation disrupts the protein's stability and impairs its normal function. Although the role of PNLIP is well established, our observations provide genetic evidence that PNLIP mutations are causative for this phenotype.


Assuntos
Análise Mutacional de DNA , Lipase/deficiência , Mutação de Sentido Incorreto , Pâncreas/enzimologia , Irmãos , Adolescente , Sequência de Aminoácidos , Sequência de Bases , Genótipo , Homozigoto , Humanos , Lipase/química , Lipase/genética , Lipase/metabolismo , Masculino , Modelos Moleculares , Conformação Proteica , Adulto Jovem
3.
Cephalalgia ; 33(11): 906-13, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23575818

RESUMO

OBJECTIVES: Studies have reported an association between migraine and white matter hyperintensities on T2-weighted brain magnetic resonance imaging (MRI) in adults. The aim of the present study was to evaluate white matter MRI brain findings in pediatric patients with migraine. METHODS: The medical files and imaging scans of all 194 patients who underwent brain MRI at the headache clinic of a tertiary medical center in 2008-2011 were reviewed. RESULTS: Mean age was 10.9 ± 3.5 years. Migraine was diagnosed in 131 patients and other disorders in 63. In the migraine group, findings on physical and laboratory examinations were within normal range. White matter lesions were identified on MRI scan in 14 children with migraine (10.6%) and none of the children with other disorders ( P = 0.006). In 13/14 patients, the lesions were focal with a variable distribution; in the remaining patient, confluent periventricular hyperintensities were documented. CONCLUSIONS: In a headache clinic of a tertiary pediatric medical center, white matter lesions are found in about 10% of pediatric patients with migraine.


Assuntos
Encéfalo/patologia , Transtornos de Enxaqueca/patologia , Fibras Nervosas Mielinizadas/patologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino
4.
Pediatr Infect Dis J ; 30(6): 491-4, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21248658

RESUMO

BACKGROUND: Data on the immunogenicity of the influenza vaccine in children after liver transplantation are sparse. Our study aims to evaluate the response of such patients to the trivalent influenza vaccine, administered by different protocols in 2 influenza seasons. METHODS: Children attending the Liver Transplantation Unit of a tertiary care medical center were prospectively recruited and immunized with the inactivated subvirion influenza vaccine during the influenza seasons of 2004/2005 (1 dose, n = 18) and 2005/2006 (2 doses 4-6 weeks apart, n = 32). Antibodies were measured by hemagglutination inhibition assay. Immunity was defined as a titer of ≥1:40, and response was defined as a ≥4-fold increase in antibody titer from baseline. RESULTS: In 2004/2005, the proportions of patients with protective antibodies were similar before and after 1 dose of vaccine. We found significant difference after the first dose for the A/H3N2 Wisconsin strain (43.2% vs. 70.3%, P = 0.003) and B/Malaysia strains (8.1% vs. 35.1%, P = 0.003) and for A/H1N1 New Caledonia strain (48.6% vs. 64.9% vs. 75%, P = 0.08, 0.005, respectively) after the second dose in 2005/2006 season. In 2004/2005, geometric mean titers rose significantly (P = 0.03) for the A/H3N2 New York strain; in 2005/2006, geometric mean titers for A/H3N2 New York and B/Malaysia increased after the first dose and for A/H1N1 New Caledonia after the second dose. Antibody titers were unrelated to age at transplantation, time from transplantation, and number of immunosuppressive drugs used. No serious vaccine-related events were documented. CONCLUSIONS: Liver-transplanted children respond to influenza vaccination. For some strains, the response is similar to that reported for healthy children. A second vaccine dose yielded no statistically significant benefit.


Assuntos
Anticorpos Antivirais/sangue , Vacinas contra Influenza/imunologia , Influenza Humana/prevenção & controle , Transplante de Fígado/imunologia , Transplante , Adolescente , Criança , Pré-Escolar , Feminino , Testes de Inibição da Hemaglutinação , Humanos , Lactente , Vacinas contra Influenza/administração & dosagem , Malásia , Masculino , Estudos Prospectivos , Vacinas de Produtos Inativados/administração & dosagem , Vacinas de Produtos Inativados/imunologia , Vacinas de Subunidades Antigênicas/administração & dosagem , Vacinas de Subunidades Antigênicas/imunologia
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