RESUMO
OBJECTIVE: The association between arterial ischemic stroke (AIS) and celiac disease (CD) has been described in only a few cases in adults and children. We aim to determine the prevalence of CD in children and adolescents with AIS. STUDY DESIGN: We investigated serum levels of tissue transglutaminase antibody immunoglobulin (Ig)A and total IgA from 76 children with AIS and in a healthy control group of 102 children. Study participants who were positive for tissue transglutaminase IgA antibodies underwent a duodenal biopsy. RESULTS: A total of 2 patients in the AIS group (2.26%) and 2 in the control group (1.96%) had positive serum tissue transglutaminase antibody (P=0.89; 95% confidence interval, -5.05 to 6.89). Duodenal biopsy confirmed CD in only 1 patient who had AIS. CONCLUSIONS: In the present study, children with acute arterial stroke did not exhibit a higher prevalence rate of CD compared with healthy controls. Therefore, the screening test for CD is not a necessary part of the management of AIS in children. However, cases of recurrent AIS could be examined for CD.
Assuntos
Isquemia Encefálica/epidemiologia , Doença Celíaca/epidemiologia , Adolescente , Especificidade de Anticorpos , Autoanticorpos/sangue , Autoantígenos/imunologia , Biópsia , Doença Celíaca/sangue , Doença Celíaca/imunologia , Doença Celíaca/patologia , Criança , Pré-Escolar , Comorbidade , Duodenoscopia , Duodeno/diagnóstico por imagem , Duodeno/patologia , Feminino , Proteínas de Ligação ao GTP/imunologia , Humanos , Imunoglobulina A/sangue , Imunoglobulina A/imunologia , Masculino , Prevalência , Estudos Prospectivos , Proteína 2 Glutamina gama-Glutamiltransferase , Transglutaminases/imunologia , Turquia/epidemiologiaRESUMO
To determine the prevalence of celiac disease in children and adolescents with migraine, the authors investigated serum levels of tissue transglutaminase antibody immunoglobulin A and total immunoglobulin A from 81 children with migraine and in a healthy control group of 176 children. Study participants who were positive for tissue transglutaminase immunoglobulin A antibodies underwent a duodenal biopsy. Two patients in the migraine group (2.5%) and 1 in the control group (0.57%) tested positive for serum tissue transglutaminase immunoglobulin A antibodies (P > .05). Duodenal biopsy did not confirm celiac disease in both groups, and these patients were considered "potential celiac" cases. In the present study, children with migraine did not exhibit a higher prevalence rate of celiac disease compared with healthy controls. Therefore, the screening test for celiac disease is not a necessary part of the management of migraine in children.
Assuntos
Doença Celíaca/sangue , Doença Celíaca/complicações , Transtornos de Enxaqueca/sangue , Transtornos de Enxaqueca/etiologia , Adolescente , Autoanticorpos/sangue , Biomarcadores/sangue , Doença Celíaca/diagnóstico , Doença Celíaca/epidemiologia , Criança , Estudos de Coortes , Duodeno/patologia , Feminino , Humanos , Imunoglobulina A/sangue , Masculino , Transtornos de Enxaqueca/epidemiologia , Prevalência , Transglutaminases/sangue , Transglutaminases/imunologiaRESUMO
To determine the prevalence of celiac disease in children and adolescents with nonsyndromic intellectual disability, we investigated serum levels of tissue transglutaminase antibody and total IgA from 232 children with nonsyndromic intellectual disability and in a healthy control group of 239 children. Study participants who were positive for tissue transglutaminase antibody underwent a duodenal biopsy. A total of 3 patients in the nonsyndromic intellectual disability group (5.45%) and 1 in the control group (0.41%) had positive serum tissue transglutaminase antibody (P > .05). Duodenal biopsy confirmed celiac disease in only 1 patient who had nonsyndromic intellectual disability. In this present study, children with nonsyndromic intellectual disability did not exhibit a higher celiac disease prevalence rate compared with healthy controls. Therefore, we suggest that screening test for celiac disease should not be necessary as a part of the management of mild and moderate nonsyndromic intellectual disability. However, cases of severe nonsyndromic intellectual disability could be examined for celiac disease.
Assuntos
Doença Celíaca/complicações , Doença Celíaca/epidemiologia , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/etiologia , Adolescente , Biomarcadores/sangue , Análise Química do Sangue , Doença Celíaca/diagnóstico , Doença Celíaca/patologia , Criança , Duodeno/patologia , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Imunoglobulina A/sangue , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/patologia , Masculino , PrevalênciaRESUMO
Deoxyguanosine kinase (DGUOK) gene mutations have been identified in the hepatocerebral form of mitochondrial DNA depletion syndromes. We report here clinical and laboratory features of 3 infants with novel DGUOK gene mutations, c.130G>A (Glu44Lys), c.493G>A (Glu165Lys), and c.707+3_6delTAAG.
Assuntos
Encefalopatia Hepática/genética , Doenças Mitocondriais/complicações , Doenças Mitocondriais/genética , Mutação/genética , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Feminino , Humanos , Lactente , MasculinoRESUMO
An adolescent girl with recurrent iron deficiency anemia, epistaxis, cyanosis, hypoxemia, clubbing, two juvenile polyps in the colon, oro-naso-pharyngeal telangiectasias, multiple arterio-venous malformations of the lungs, and a new homozygous mutation in SMAD4 gene is reported. Patients with juvenile polyps should be examined carefully for mucocutaneus findings and digital clubbing. When a combination of these signs is noted, a genetic testing is warranted inspite of low polyp count in order to prevent potential risk of malignancy and other complications.
