Noonan syndrome with RAF1 gene mutations in a newborn with cerebral haemorrhage.

BACKGROUND: Noonan syndrome is an autosomal dominant genetic disorder that can occur in men and women and has a sporadic or family history. NS can lead to abnormal bleeding, but cerebral haemorrhage is rare. This is the first case of cerebral haemorrhage with a RAF1 gene mutation that originated in the neonatal period. CASE PRESENTATION: This case presents a newborn with a RAF1 gene mutation resulting in NS complicated with an abnormality of chromosome 46, X, del (Y) (q12). In the course of treatment, the baby's breathing suddenly increased. After an MRI examination of the skull, haemorrhaging was found in multiple parts of the brain. CONCLUSIONS: After symptomatic treatment, the baby recovered well, but the main cause of cerebral haemorrhage was not found.

[Application of clinical pathways in children with Rotavirus enteritis].

OBJECTIVE: Clinical pathways are standardized, multidisciplinary, integrated management plans. This study aimed to evaluate the efficacy of clinical pathways in children with Rotavirus enteritis. METHODS: Seventy-one children with Rotavirus enteritis were treated according to the clinical pathways. Seventy-five children with Rotavirus enteritis who received routine therapy and nursing interventions served as the control group. The clinical efficacies were compared between the two groups. RESULTS: The average hospitalization duration was shortened, the hospitalization costs were reduced and the parents' satisfaction rate increased in the observed group compared with the control group (P<0.05). CONCLUSIONS: The use of clinical pathways may decrease the hospitalization duration and costs and improve the quality of nursing care and the parents' satisfaction rate in children with Rotavirus enteritis.

[Study of CD4+ CD25+ regulatory T cells and expression of Foxp3 mRNA in bronchiolitis and glucocorticoid regulation].

OBJECTIVE: To explore the pathogenesis of respiratory syncytial viruses (RSV) bronchiolitis and its treatment with glucocorticoids. METHODS: The pediatric patients with RSV bronchiolitis were divided into an atopic group (n = 50) and a non-atopic group (n = 50) based on whether there were IgE elevation, eczema and dermatitis. Another 25 normal subjects were chosen as a control group. Divided into mild, medium and severe groups, they were finally randomly divided into hormone (dexamethasone) and non-hormone groups. The proportion of CD4+ CD25+ regulatory T cells (Treg) and the expression of Foxp3 mRNA were tested by flow cytometry and RT-PCR retrospectively. RESULTS: The proportion of CD4+ CD25+ Treg and the Foxp3 mRNA expression in the control, non-atopic, and atopic groups reached (10.5 +/- 1.6)% and 0.34 +/- 0.11, (8.8 +/- 2.2)% and 0.26 +/- 0.08, (7.6 +/- 1.8)% and 0.21 +/- 0.09, respectively. There were significant differences among these groups (all P < 0.05). The mild, medium and severe bronchiolitis groups reached (9.7 +/- 1.6)% and 0.28 +/- 0.08, (7.8 +/- 2.1)% and 0.24 +/- 0.06, (6.7 +/- 1.3)% and 0.20 +/- 0.07 respectively (all P < 0.05). The proportion of CD4+ CD25+ Treg and the expression of Foxp3 showed significantly negative correlations with severity (r = -0.62, -0.71, both P < 0.01). That is, they correlated with the severity of disease. The proportion of the CD4+ CD25+ Treg and the expression of Foxp3 mRNA of the hormone group were higher than those of the non-hormone group [(9.5 +/- 2.1)% and 0.33 +/- 0.10 vs (8.5 +/- 1.8)% and 0.27 +/- 0.12, P < 0.05 and < 0.01] respectively. CONCLUSION: CD4+ CD25+ Treg and Foxp3 mRNA are involved in the inflammation of bronchiolitis. And the levels of CD4+ CD25+ Treg and Foxp3 mRNA level is an objective indicator of the severity of RSV bronchiolitis. The effect of glucocorticoids upon RSV bronchiolitis may be in part due to the direct enhancement of production and functions of CD4+ CD25+ Treg and Foxp3 mRNA.