The relationships between host factors, virus strain, viral load, and illness severity in respiratory syncytial virus (RSV)-induced bronchiolitis are poorly defined. These relationships were evaluated prospectively in 81 previously healthy infants hospitalized with RSV bronchiolitis. Disease severity was determined by the respiratory rate, the duration of hospitalization, and whether patients during their hospitalization required pediatric intensive care unit admission or mechanical ventilation. RSV typing into subgroup A and B was obtained by RT-PCR-hybridization assay. The nasopharyngeal RSV viral loads were measured by real-time quantitative RT-PCR. Disease severity correlated significantly with the presence of risk factor (estimated gestational age < 37 weeks and/or birth weight < 2,500 g) and with chronologic age
La survenue d'une varicelle clinique en cours de grossesse est rare, pouvant entrainer des risques maternels et fœtaux. La varicelle maternelle périnatale peut entrainer une varicelle néonatale potentiellement grave, notamment en cas d'éruptions maternelles survenant entre 5 jours avant et 2 jours après l'accouchement. Nous rapportons huit observations de nouveau-nés de mères ayant eu une varicelle en péri-partum dans le but de synthétiser, l'état actuel des connaissances sur le risque de ce virus et d'essayer d'élaborer un protocole de prise en charge. Il s'agit d'une étude descriptive menée au centre de maternité et de néonatologie de Sousse, sur une période de 10 ans. Huit nouveau-nés ont été inclus dans l'étude. Le diagnostic était fait avant l'accouchement chez 7 mères. Une seule femme avait développé sa varicelle 3 jours après l'accouchement. Cinq nouveau-nés étaient symptomatiques à l'admission. Ils avaient tous des lésions cutanées typiques de la varicelle, trois parmi eux avaient une atteinte respiratoire associée. La prise en charge était basée sur l'isolement des nouveau-nés, les soins locaux, et le traitement par Acyclovir. L'évolution était favorable dans tous les cas. La survenue d'une varicelle au cours de la grossesse reste possible dans les pays ou la vaccination n'est pas encore accessible à tous. Les risques de complications maternelles et fœtales qu'elle occasionne justifient une prise en charge spécifique et bien codifiée.
Aim The aim of the study is to report on epidemiological, clinical, and biochemical characteristics of nonketotic hyperglycinemia (NKH) in Tunisia.
Methods Patients diagnosed with NKH in Laboratory of Biochemistry at Rabta hospital (Tunis, Tunisia) between 1999 and 2018 were included. Plasma and cerebrospinal fluid (CSF) free amino acids were assessed by ion exchange chromatography. Diagnosis was based on family history, patient's clinical presentation and course, and increased CSF to plasma glycine ratio.
Results During 20 years, 69 patients were diagnosed with NKH, with 25 patients originating from Kairouan region. Estimated incidences were 1:55,641 in Tunisia and 1:9,684 in Kairouan. Consanguinity was found for 73.9% of the patients and 42% of the families have history of infantile death due to a disease of similar clinical course than the propositus. Clinical symptoms initiated within the first week of life in 75% of the patients and within the first 3 months in 95.7% ones. The phenotype was severe in 76.8% of the patients. Main symptoms were hypotonia, feeding difficulties, coma, apnea, and seizures. Most patients died within few days to months following diagnosis. CSF to plasma glycine ratio was increased in all patients. CSF and plasma glycine levels were negatively correlated with age of disease onset and severity.
Conclusion NKH is quite frequent in Tunisia. Kairouan region has the highest NKH incidence rate, worldwide. However, due to lack of confirmatory enzymatic and genetic tests, NKH diagnosis was based on first-line biochemical tests. Characterization of causal mutations is needed for accurate diagnosis and prenatal diagnosis of this devastating life-threatening disease.
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