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1.
Artículo en Inglés | MEDLINE | ID: mdl-38347809

RESUMEN

Summary: Background. Little is known about the relationship between allergic diseases and seizure disorders including epilepsy. It is hypothesized that inflammation from allergic diseases may predispose children to seizures. the aim of this study is to investigate frequency of seizure disorder in children with asthma and allergy. Methods. A cross-sectional survey study of parents of 1300 children and adolescents under 20 years of age referred to the Allergy and Asthma Clinic of Imam Ali Hospital (Karaj) who were asked to complete a screening questionnaire for seizures in their children. Parents who reported any history of seizures in their children were contacted to answer a second in-depth questionnaire to determine more detail of type, triggers, and treatment of seizures. Results. A total of 705 males (62%) and 433 females (38%) participated in this study, with a mean and standard age of 6.62±4.57 years. Among them, 70.6% had asthma, 15.2% had allergic rhinitis, 5.6% had atopic dermatitis, 3.5% had urticaria, 2.7% had food allergies, 1% had drug allergies, and 1.4% had other allergic diseases. Additionally, 88 patients (7.7%) had a history of doctor-diagnosed seizures, 57 patients (5%) had febrile convulsions, and 15 patients (1.31%) had idiopathic epilepsy. There was no significant relationship found between febrile convulsions, seizures, and epilepsy with the type of allergic diseases. However, a significant association was observed between the number of comorbid allergic diseases in patients with febrile convulsions (OR=1.4, 95% CI: 1.07-1.83, P=0.013).There was also an association between the epilepsy and comorbid allergic diseases number with an odds ratio OR=1.84, 95% CI=0.28-12, however the risk of epilepsy was increased by 0.84 percent but this increase was not significant. Regarding the relation between the number of allergic diseases in parents and idiopathic epilepsy in their children, a significant association was found only for mothers (OR=1.28, 95% CI: 1.04-2.23, P=0.024), but not for fathers (P>0.05). Conclusions. Febrile convulsion is associated with the .number of comorbid allergic diseases in children and the mother's number of allergic diseases is more related to idiopathic epilepsy in children than the father's.

2.
AJNR Am J Neuroradiol ; 44(5): 602-610, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-37024306

RESUMEN

BACKGROUND AND PURPOSE: An increased number of pathogenic variants have been described in mitochondrial encephalomyopathy lactic acidosis and strokelike episodes (MELAS). Different imaging presentations have emerged in parallel with a growing recognition of clinical and outcome variability, which pose a diagnostic challenge to neurologists and radiologists and may impact an individual patient's response to therapeutic interventions. By evaluating clinical, neuroimaging, laboratory, and genetic findings, we sought to improve our understanding of the sources of potential phenotype variability in patients with MELAS. MATERIALS AND METHODS: This retrospective single-center study included individuals who had confirmed mitochondrial DNA pathogenic variants and a diagnosis of MELAS and whose data were reviewed from January 2000 through November 2021. The approach included a review of clinical, neuroimaging, laboratory, and genetic data, followed by an unsupervised hierarchical cluster analysis looking for sources of phenotype variability in MELAS. Subsequently, experts identified "victory-variables" that best differentiated MELAS cohort clusters. RESULTS: Thirty-five patients with a diagnosis of mitochondrial DNA-based MELAS (median age, 12 years; interquartile range, 7-24 years; 24 female) were eligible for this study. Fifty-three discrete variables were evaluated by an unsupervised cluster analysis, which revealed that two distinct phenotypes exist among patients with MELAS. After experts reviewed the variables, they selected 8 victory-variables with the greatest impact in determining the MELAS subgroups: developmental delay, sensorineural hearing loss, vision loss in the first strokelike episode, Leigh syndrome overlap, age at the first strokelike episode, cortical lesion size, regional brain distribution of lesions, and genetic groups. Ultimately, 2-step differentiating criteria were defined to classify atypical MELAS. CONCLUSIONS: We identified 2 distinct patterns of MELAS: classic MELAS and atypical MELAS. Recognizing different patterns in MELAS presentations will enable clinical and research care teams to better understand the natural history and prognosis of MELAS and identify the best candidates for specific therapeutic interventions.


Asunto(s)
Acidosis Láctica , Síndrome MELAS , Accidente Cerebrovascular , Femenino , Humanos , Síndrome MELAS/diagnóstico , Síndrome MELAS/genética , Síndrome MELAS/patología , Estudios Retrospectivos , ADN Mitocondrial/genética , Fenotipo
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