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1.
Pediatr Allergy Immunol ; 33(1): e13663, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34480816

RESUMO

BACKGROUND: Food allergy is a potentially life-threatening disease, affecting up to 10% of the pediatric population. OBJECTIVE: The aim of our study was to assess the health-related quality of life (HRQL) of food-allergic patients compared with the general population and patients with other chronic diseases with dietary or allergic burden, in a cross-sectional study. METHODS: We recruited patients aged 8-17 years diagnosed with food allergy and matched healthy controls recruited in schools. We also included patients with asthma, inflammatory bowel disease, celiac disease, diabetes, obesity, and eating disorders. We used the CHQ-CF87 questionnaire for generic HRQL assessment. Food allergy HRQL was also assessed using specific questionnaires: Food Allergy Quality of Life Questionnaire (FAQLQ) and Food Allergy Independent Measure (FAIM). RESULTS: One hundred and thirty-five food-allergic children, 255 children with chronic diseases, and 463 healthy controls were included in the analyses. Food-allergic patients had a better HRQL than healthy controls in the Behavior (BE), Bodily Pain (BP), Family Activities (FA), and Mental Health (MH) domains and a worse HRQL in the General Health Perception (GH) domain (p = .048). Food-allergic patients exhibited a better HRQL than patients affected by other chronic diseases, notably diabetes. Although an epinephrine autoinjector had been prescribed to 87.4% of the food-allergic children, only 54.2% of them carried it at all times. CONCLUSION: Food-allergic patients display overall good HRQL compared with the general population and those with other diseases with daily symptoms and treatments, in line with recent improvements in food allergy management.


Assuntos
Hipersensibilidade Alimentar , Qualidade de Vida , Adolescente , Criança , Estudos Transversais , Humanos , Saúde Mental , Inquéritos e Questionários
2.
J Pediatr Gastroenterol Nutr ; 72(1): 74-79, 2021 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-32740538

RESUMO

OBJECTIVES: Crohn disease (CD) can affect patient's quality of life (QOL) with physical, social, and psychological impacts. This study aimed to investigate the QOL of children with CD and its relationship with patient and disease characteristics. METHODS: Children ages from 10 to 17 years with diagnosed CD for more than 6 months were eligible to this cross-sectional study conducted in 35 French pediatric centers. QOL was assessed by the IMPACT-III questionnaire. Patient and disease characteristics were collected. RESULTS: A total of 218 children (42% of girls) were included at a median age of 14 years (interquartile range [IQR]: 13--16). Median duration of CD was 3.2 years (IQR: 1.7-5.1) and 63% of children were in clinical remission assessed by wPCDAI. Total IMPACT-III score was 62.8 (±11.0). The lowest score was in "emotional functioning" subdomain (mean: 42.8 ±â€Š11.2). Clinical remission was the main independent factor associated with QOL of children with CD (5.74 points higher compared with those "with active disease", 95% confidence interval [CI] 2.77--8.70, P < 0.001). Age of patient at the evaluation was found negatively correlated with QOL (-0.76 per year, 95% CI: -1.47 to -0.06, P = 0.009). Presence of psychological disorders was associated with a lower QOL (-9.6 points lower to those without, 95% CI: -13.34 to -5.86, P < 0.0001). Total IMPACT-III and its subdomains scores were not related to sex, disease duration, or treatments. CONCLUSIONS: These results not only confirm that clinical remission is a major issue for the QOL of patients, but also highlights the importance of psychological care.


Assuntos
Doença de Crohn , Qualidade de Vida , Adolescente , Criança , Doença de Crohn/terapia , Estudos Transversais , Emoções , Feminino , Humanos , Inquéritos e Questionários
3.
Br J Haematol ; 187(4): 530-542, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31338833

RESUMO

Congenital sideroblastic anaemia (CSA) is a rare disease caused by germline mutations of genes involved in haem and iron-sulphur cluster formation, and mitochondrial protein biosynthesis. We performed a retrospective multicentre European study of a cohort of childhood-onset CSA patients to explore genotype/phenotype correlations. We studied 23 females and 20 males with symptoms of CSA. Among the patients, the most frequently mutated genes were ALAS2 (n = 10; 23·3%) and SLC25A38 (n = 8; 18·6%), causing isolated forms of microcytic anaemia of varying severity. Five patients with SLC19A2 mutations suffered from thiamine-responsive megaloblastic anaemia and three exhibited the 'anaemia, deafness and diabetes' triad. Three patients with TRNT1 mutations exhibited severe early onset microcytic anaemia associated with thrombocytosis, and two exhibited B-cell immunodeficiency, inflammatory syndrome and psychomotor delay. The prognoses of patients with TRNT1 and SLC2A38 mutations were generally dismal because of comorbidities or severe iron overload. No molecular diagnosis could be established in 14/43 cases. This study emphasizes the frequency of ALAS2 and SLC25A38 mutations and provides the largest comprehensive analysis to date of genotype/phenotype correlations in CSA. Further studies of CSA patients with data recorded in an international registry would be helpful to improve patient management and establish standardized guidelines.


Assuntos
5-Aminolevulinato Sintetase/genética , Anemia Sideroblástica/genética , Estudos de Associação Genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Proteínas de Transporte da Membrana Mitocondrial/genética , Anemia Sideroblástica/patologia , Criança , Estudos de Coortes , Europa (Continente) , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Humanos , Masculino , Mutação , Nucleotidiltransferases/genética , Estudos Retrospectivos
5.
Clin Chim Acta ; 519: 64-69, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33857477

RESUMO

BACKGROUND: Lysosomal acid lipase deficiency (LALD, OMIM#278000) is a rare lysosomal disorder with an autosomal recessive inheritance. The main clinical manifestations are related to a progressive accumulation of cholesteryl esters, triglycerides or both within the lysosome in different organs such as the liver, spleen, and cardiovascular system. A wide range of clinical severity is associated with LALD including a severe very rare antenatal/neonatal/infantile phenotype named Wolman disease and a late-onset form named cholesteryl ester storage disease (CESD). METHODS: This study aimed to investigate a cohort of at-risk patients (4174) presenting with clinical or biological signs consistent with LALD using the assessment of LAL activity on dried blood spots. RESULTS: LAL activity was lower than 0.05 nmol/punch/L (cut-off: 0.12) in 19 patients including 13 CESD and 6 Wolman. Molecular study has been conducted in 17 patients and succeeded in identifying 34 mutated alleles. Fourteen unique variants have been characterized, 7 of which are novel. CONCLUSION: This study allowed to identify a series of patients and expanded the molecular spectrum knowledge of LALD. Besides, a new screening criteria grid based on the clinical/biological data from our study and the literature has been proposed in order to enhance the diagnosis rate in at risk populations.


Assuntos
Doença do Armazenamento de Colesterol Éster , Doença de Wolman , Doença do Armazenamento de Colesterol Éster/diagnóstico , Doença do Armazenamento de Colesterol Éster/genética , Ésteres do Colesterol , Feminino , Humanos , Recém-Nascido , Lipase , Gravidez , Esterol Esterase/genética , Doença de Wolman/diagnóstico , Doença de Wolman/genética
6.
Endosc Int Open ; 8(7): E830-E833, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32617387

RESUMO

Background and study aims Eosinophilic esophagitis (EoE) is a chronic immune disease with increasing incidence. It is clinically defined by symptoms of esophageal dysfunction and histologically by eosinophilic polynuclear cell infiltration of the esophageal mucosa. Symptoms are not specific and include gastroesophageal reflux disease (GERD), dysphagia, vomiting or dietary blockages. Chronic inflammation of the mucosa may lead to narrowing of the esophageal lumen responsible for impactions. Extraction procedures can be complicated by dissection and perforation. Rare spontaneous ruptures of the esophagus known as Boerhaave syndrome are also possible. We report five cases of esophageal perforation in children with EoE, three with spontaneous rupture and two after an endoscopic procedure. The evolution was favorable under medical treatment.

7.
Am J Med Genet A ; 149A(8): 1754-7, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19606480

RESUMO

We detailed the story from birth to the age of 5 years 9 months, of the oldest patient reported with a Bohring-Opitz syndrome with the three main diagnostic criteria: characteristic facial appearance, fixed contractures of the upper limbs and severe feeding difficulties. The facial anomalies described in our patient were microcephaly, bitemporal narrowing, "puffy" cheeks, forehead naevus flammeus, hypoplastic orbital ridges, prominent eyes, broad nasal bridge, high arched palate, buccal-alveola frenula and retrognathism. The magnetic resonance imaging (MRI) of the brain showed a hypoplastic corpus callosum and a narrowed upper cervical canal; and the cervical MRI showed a malformation of the atlas consisting in an agenesis of the anterior arch and an anterior slip of the posterior arch. We focused on her neurological and nutritional evolution. Despite the gastrostomy and a Nissen fundoplication at age 7 months, she still had developmental growth delays overall (<3rd centile). At 3 years 9 months of age, she began to put on weight quickly, which seemed to be atypical. Meanwhile she developed epilepsy, which was controlled with specific drugs. Currently, she is 5 years 9 months old and has significant psychomotor retardation, although this disease is often fatal in early childhood, due to obstructive apnea and unexplained bradycardia.


Assuntos
Anormalidades Múltiplas/patologia , Vértebras Cervicais/patologia , Criança , Pré-Escolar , Feminino , Crescimento e Desenvolvimento , Deformidades Congênitas da Mão/complicações , Deformidades Congênitas da Mão/patologia , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Síndrome
8.
J Pediatr Gastroenterol Nutr ; 49(5): 599-606, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19668009

RESUMO

OBJECTIVES: : Progressive liver injury is a concern in HIV-infected children exposed to long-term antiretroviral drugs and to the cytopathic effect of HIV. Yet liver biopsy is usually considered too invasive to be repeated in these patients. The aims of this study are to evaluate the feasibility of noninvasive hepatic investigations in HIV-1-infected children, assess the prevalence of signs of liver affection, and analyse the influence of the HIV disease severity and the exposure to antiretroviral therapy. MATERIALS AND METHODS: : A cross-sectional study conducted in 26 HIV-1 vertically infected children ages 8 to 18 years old. Liver function was assessed with standard serum biochemical markers, FibroTest, ActiTest, SteatoTest, Forns index, aspartate aminotransferase to platelet ratio index, ultrasound, and Fibroscan. RESULTS: : Nineteen (>60%) children had signs of liver affection on at least 1 of the test results: 13 (50%) had elevated liver enzymes, 15 (63%), 8 (33%), 5 (21%), and 5 (21%) had abnormal FibroTest, ActiTest, Forns index, and aspartate aminotransferase to platelet ratio index results, respectively. Four children (17%) had mild liver steatosis on ultrasound. Fibroscan measures were significantly higher in patients than in age-matched healthy children. Patients with elevated Fibroscan measures also had significantly higher FibroTest results. Age, HIV stage N in the Centers for Disease Control and Prevention classification and exposure duration to nucleoside reverse transcriptase inhibitor and non-nucleoside reverse transcriptase inhibitor drugs were the main risk factors for hepatotoxicity. CONCLUSIONS: : More than half of our population of HIV-infected children had biological and/or radiological signs of liver affection. Regular follow-up of liver function is necessary in these patients, which is now possible with noninvasive procedures.


Assuntos
Doença Hepática Induzida por Substâncias e Drogas/etiologia , Fígado Gorduroso/etiologia , Infecções por HIV/complicações , HIV-1 , Fígado/patologia , Inibidores da Transcriptase Reversa/efeitos adversos , Adolescente , Fatores Etários , Terapia Antirretroviral de Alta Atividade/efeitos adversos , Aspartato Aminotransferases/sangue , Biomarcadores/sangue , Plaquetas , Doença Hepática Induzida por Substâncias e Drogas/epidemiologia , Doença Hepática Induzida por Substâncias e Drogas/patologia , Criança , Estudos Transversais , Progressão da Doença , Fígado Gorduroso/epidemiologia , Estudos de Viabilidade , Feminino , Infecções por HIV/tratamento farmacológico , Infecções por HIV/enzimologia , Infecções por HIV/patologia , Humanos , Transmissão Vertical de Doenças Infecciosas , Fígado/enzimologia , Masculino
9.
Pediatr Nephrol ; 17(7): 550-3, 2002 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-12172774

RESUMO

Candiduria is rare in newborns and infants, occurring most often in patients with risk factors. When associated with a candidal bezoar in the urinary tract, candiduria is usually treated by systemic amphotericin B and flucytosine plus local irrigation with amphotericin B. We describe the successful treatment of five newborns with a urinary tract infection, on major urological malformations, due to Candida albicans (including three with a candidal bezoar) by fluconazole alone. No adverse effects or recurrences were observed. Fluconazole therapy permits early discharge from the hospital and seems suitable for infants and newborns with a C. albicans urinary tract infection.


Assuntos
Antifúngicos/uso terapêutico , Candidíase/tratamento farmacológico , Fluconazol/uso terapêutico , Infecções Urinárias/tratamento farmacológico , Antifúngicos/sangue , Bezoares/tratamento farmacológico , Fluconazol/sangue , Seguimentos , Humanos , Lactente , Recém-Nascido , Resultado do Tratamento
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