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1.
Clin Chim Acta ; 541: 117241, 2023 Feb 15.
Article de Anglais | MEDLINE | ID: mdl-36739073

RÉSUMÉ

BACKGROUND: Carboxyhemoglobin (COHb) is considered a biomarker of oxidative stress and previous studies suggest a correlation between its blood level and prematurity complications. Our aim in this study was to assess the correlation between COHb levels and the risk for bronchopulmonary dysplasia (BPD), intraventricular hemorrhage (IVH), and retinopathy of prematurity (ROP). METHODS: We retrospectively studied 178 preterm infants with gestational age of 27.0 ± 1.5 weeks, among which 121 (68 %) had BPD, 43 (24 %) IVH, and 33 (19 %) ROP. COHb levels measured during the first seven days of life were recorded. RESULTS: Logistic regression analysis showed that higher levels of COHb on the seventh day of life increases the risk for moderate-to-severe BPD (OR 4.552, 95 % Cl 1.220-16.997; P = 0.024), while higher levels of COHb on the fourth day of life increases the risk for grade 2-4 IVH (OR 5.537, 95 % Cl 1.602-19.134; P = 0.007). CONCLUSIONS: COHb measured in the first week of life can contribute to predicting the risk for BPD and IVH, but not for ROP, in very preterm infants. Since COHb can be readily measured, its assessment can be useful in clinical practice for early identification of preterm infants at high risk for oxidative stress related complications.


Sujet(s)
Dysplasie bronchopulmonaire , Maladies néonatales , Rétinopathie du prématuré , Nourrisson , Femelle , Nouveau-né , Humains , Prématuré , Carboxyhémoglobine , Études rétrospectives , Âge gestationnel , Rétinopathie du prématuré/complications , Hémorragie cérébrale/complications , Marqueurs biologiques
2.
Front Pediatr ; 10: 981938, 2022.
Article de Anglais | MEDLINE | ID: mdl-36545657

RÉSUMÉ

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a rare genetic disease characterized by tetrad camptodactyly, noninflammatory arthropathy, coxa vara deformity, and pericardial effusion. Arthropathy typically affects large joints and presents with joint swelling in the absence of other signs of inflammation. We described the case of a girl affected by CACP syndrome caused by a novel compound heterozygous variant in proteoglycan 4 gene (c.2831_2832insT; c.3892C > T) and associated with temporomandibular involvement. The patient received treatment with intra-articular hyaluronic acid injections, which presented rapid but transient improvements of pain and range of motion. A literature review of previously reported CACP patients has been performed. Of the patients. 69.2% (101 out of 146) were Middle Eastern, and 65.7% (96) were consanguineous. The median age of onset was 24 months (interquartile range of 12-36 months), and median age of diagnosis was 96 months (interquartile range of 48-156 months). Arthropathy was always present, mainly involving hips (95.2%), knees (92.4%), wrists (87.7%), elbows (79.5%), and ankles (57.5%). Camptodactyly and pericardial effusion were described, respectively, in 97.3% (142) and 15.1% (22) of patients. The main radiological findings were coxa vara (95.2%), femoral changes (64.4%), intraosseus cysts (14.4%), and bone erosion (5%). Of the patients, 32.9% (48) had received a previous juvenile idiopathic arthritis diagnosis. CACP syndrome can be easily misdiagnosed with juvenile idiopathic arthritis. A prolonged lack of response to immunosuppressive therapy associated with typical clinical and radiological features should prompt consideration of this rare syndrome.

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