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1.
J Asthma Allergy ; 16: 261-267, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36915285

RESUMO

Background: Cow's Milk Protein Allergy (CMPA) is the most common food allergy in children. The reaction is classified into IgE-mediated immediate reaction and delayed-onset, according to the underlying immune mechanism, and hence, the timing of the symptoms. Case reports suggest that children, with delayed CMPA reactions on elimination diet, may develop severe immediate reactions on reintroduction. Aim: The objective of this study was to evaluate the incidence and the risk factors of developing immediate reactions to milk and dairy products in children with CMPA whose initial presentations were of delayed type. Methods: A retrospective chart review of children, aged 0-12 years, presented with delayed type CMPA reactions to the allergy-clinical immunology clinics, was performed. The diagnosis was made clinically, and with appropriate allergy tests when indicated. Results: Sixty children were included. Males:female ratio was 1.7:1. Family history of atopy was in 72%, and 57% had personal history of atopy. Sixty percent were not breast fed. The most common concomitant food allergy was egg. The most common initial presentation was diarrhea without protein loss or bleeding followed by exacerbation of atopic dermatitis upon exposure to dairy products. Immediate reactions developed in 21.6% upon re-exposure. There were significant associations with concomitant food allergy (OR 56.6 (3.15-1016.1) P<0.0001), especially eggs (OR 12.85 (3.09-53.5) P<0.01). Conclusion: Children with CMPA, who present with delayed-type allergic reactions, may be at a significant risk of developing immediate reactions upon reintroduction. Evaluation of possible IgE-mediated allergic reactions before reintroduction may be advisable.

2.
Clin Genet ; 95(2): 310-319, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30561787

RESUMO

Defects in the peroxisomes biogenesis and/or function result in peroxisomal disorders. In this study, we describe the largest Arab cohort to date (72 families) of clinically, biochemically and molecularly characterized patients with peroxisomal disorders. At the molecular level, we identified 43 disease-causing variants, half of which are novel. The founder nature of many of the variants allowed us to calculate the minimum disease burden for these disorders in our population ~1:30 000, which is much higher than previous estimates in other populations. Clinically, we found an interesting trend toward genotype/phenotype correlation in terms of long-term survival. Nearly half (40/75) of our peroxisomal disorders patients had documented survival beyond 1 year of age. Most unusual among the long-term survivors was a multiplex family in which the affected members presented as adults with non-specific intellectual disability and epilepsy. Other unusual presentations included the very recently described peroxisomal fatty acyl-CoA reductase 1 disorder as well as CRD, spastic paraparesis, white matter (CRSPW) syndrome. We conclude that peroxisomal disorders are highly heterogeneous in their clinical presentation. Our data also confirm the demonstration that milder forms of Zellweger spectrum disorders cannot be ruled out by the "gold standard" very long chain fatty acids assay, which highlights the value of a genomics-first approach in these cases.


Assuntos
Árabes , Transtornos Peroxissômicos/epidemiologia , Transtornos Peroxissômicos/etiologia , Árabes/genética , Biomarcadores , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Estudos de Coortes , Consanguinidade , Efeitos Psicossociais da Doença , Gerenciamento Clínico , Suscetibilidade a Doenças , Fácies , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Imageamento por Ressonância Magnética , Masculino , Mutação , Linhagem , Transtornos Peroxissômicos/diagnóstico , Transtornos Peroxissômicos/terapia , Fenótipo , Vigilância da População , Prognóstico
3.
J Infect Public Health ; 10(6): 766-769, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28196635

RESUMO

This is a retrospective study to evaluate epidemiology and etiologies of childhood meningitis in Kuwait after the routine introduction of the pneumococcal conjugate vaccine. The data was collected from 196 patients in the period of 2010-2014. Aseptic meningitis accounted for 51% of the cases, bacterial meningitis accounted for 29% cases and partially treated meningitis were 20%. Organisms causing bacterial meningitis were: Streptococcus pneumoniae 40.4%, Neisseria meningitidis 17.6%, Haemophilus spp. 12.2%, other gram positive or negative 19.3%, and Group B Streptococcus 8.8%. The hospitalization was complicated by admission to the ICU in 16.3% patients. Sequelae on discharge were seen in 4%, and 2.5% died of complications of meningitis. In children with pneumococcal meningitis, 48% were admitted to the ICU, 35% were discharged with sequelae and 13% died. In the era of post pneumococcal conjugate vaccination, S. pneumoniae remains the leading cause of bacterial meningitis with the greatest morbidity and mortality.


Assuntos
Meningite Asséptica/epidemiologia , Meningite Asséptica/etiologia , Meningites Bacterianas/epidemiologia , Meningites Bacterianas/etiologia , Vacinas Pneumocócicas/administração & dosagem , Criança , Pré-Escolar , Feminino , Haemophilus/isolamento & purificação , Humanos , Lactente , Recém-Nascido , Kuweit/epidemiologia , Masculino , Meningite Asséptica/mortalidade , Meningites Bacterianas/mortalidade , Neisseria meningitidis/isolamento & purificação , Estudos Retrospectivos , Streptococcus pneumoniae/isolamento & purificação , Análise de Sobrevida , Vacinação/estatística & dados numéricos , Vacinas Conjugadas/administração & dosagem
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