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1.
Arch Pediatr ; 30(7): 477-482, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37704519

RESUMO

BACKGROUND: Necrotizing enterocolitis (NEC) is the most common life-threatening gastrointestinal emergency in prematurity. The pathophysiology is multifactorial and remains incompletely understood. Early diagnosis and treatment could reduce the risk of mortality and morbidity. We aimed to identify factors associated with NEC in preterm newborns. METHOD: This case-control study included all preterm newborns presenting with NEC and managed between January 1, 2009 and December 31, 2018 in the neonatal intensive care unit of Nancy. For each case, two controls were matched according to three criteria: gestational age (WG), date of birth, and mode of delivery. Antenatal, peripartum, and postnatal risk factors prior to NEC were analyzed. RESULTS: A total of 292 infants were involved in the study, 113 of whom had NEC. Mean gestational age for newborns with NEC was 29 WG, and mean birth weight, 1340 g. Only early-onset infection was identified as a significant risk factor for NEC (15% vs. 6.6% for infection p<0.04, and 28.3% vs. 16.4% p<0.02 for infection and sepsis, NEC vs. controls, respectively). Late-onset feeding and initial continuous enteral feeding were significantly associated with the occurrence of more severe NEC (p<0.02 and p = 0.03, respectively). CONCLUSION: The results of this study are consistent with intestinal dysbiosis being a risk factor for NEC. Early-onset infection was found to be a significant risk factor. Enteral feeding practice may also be associated with NEC.


Assuntos
Enterocolite Necrosante , Doenças Fetais , Doenças do Recém-Nascido , Gravidez , Lactente , Recém-Nascido , Feminino , Humanos , Recém-Nascido Prematuro , Enterocolite Necrosante/diagnóstico , Enterocolite Necrosante/epidemiologia , Enterocolite Necrosante/etiologia , Estudos de Casos e Controles , Idade Gestacional , Fatores de Risco
2.
Cell Rep Med ; 3(7): 100670, 2022 07 19.
Artigo em Inglês | MEDLINE | ID: mdl-35764087

RESUMO

Inherited disorders of B12 metabolism produce a broad spectrum of manifestations, with limited knowledge of the influence of age and the function of related genes. We report a meta-analysis on 824 patients with a genetically proven diagnosis of an inherited disorder of vitamin B12 metabolism. Gene clusters and age categories are associated with patients' manifestations. The "cytoplasmic transport" cluster is associated with neurological and ophthalmological manifestations, the "mitochondrion" cluster with hypotonia, acute metabolic decompensation, and death, and the "B12 availability" and "remethylation" clusters with anemia and cytopenia. Hypotonia, EEG abnormalities, nystagmus, and strabismus are predominant in the younger patients, while neurological manifestations, such as walking difficulties, peripheral neuropathy, pyramidal syndrome, cerebral atrophy, psychiatric disorders, and thromboembolic manifestations, are predominant in the older patients. These results should prompt systematic checking of markers of vitamin B12 status, including homocysteine and methylmalonic acid, when usual causes of these manifestations are discarded in adult patients.


Assuntos
Deficiência de Vitamina B 12 , Vitamina B 12 , Humanos , Ácido Metilmalônico , Hipotonia Muscular/complicações , Vitamina B 12/metabolismo , Deficiência de Vitamina B 12/genética , Vitaminas
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