CEACAM3 decreases asthma exacerbations and modulates respiratory syncytial virus latent infection in children.

BACKGROUND: Respiratory syncytial virus (RSV) is associated with childhood asthma. Nevertheless, not all children exposed to RSV develop asthma symptoms, possibly because genes modulate the effects of RSV on asthma exacerbations. OBJECTIVE: The purpose of this study was to identify genes that modulate the effect of RSV latent infection on asthma exacerbations. METHODS: We performed a meta-analysis to investigate differentially expressed genes (DEGs) of RSV infection from Gene Expression Omnibus datasets. Expression quantitative trait loci (eQTL) methods were applied to select single nucleotide polymorphisms (SNPs) that were associated with DEGs. Gene-based analysis was used to identify SNPs that were significantly associated with asthma exacerbations in the Taiwanese Consortium of Childhood Asthma Study (TCCAS), and validation was attempted in an independent cohort, the Childhood Asthma Management Program (CAMP). Gene-RSV interaction analyses were performed to investigate the association between the interaction of SNPs and RSV latent infection on asthma exacerbations. RESULTS: A total of 352 significant DEGs were found by meta-analysis of RSV-related genes. We used 38 123 SNPs related to DEGs to investigate the genetic main effects on asthma exacerbations. We found that eight RSV-related genes (GADD45A, GYPB, MS4A3, NFE2, RNASE3, EPB41L3, CEACAM6 and CEACAM3) were significantly associated with asthma exacerbations in TCCAS and also validated in CAMP. In TCCAS, rs7251960 (CEACAM3) significantly modulated the effect of RSV latent infection on asthma exacerbations (false-discovery rate <0.05). The rs7251960 variant was associated with CEACAM3 mRNA expression in lung tissue (p for trend=1.2×10-7). CEACAM3 mRNA was reduced in nasal mucosa from subjects with asthma exacerbations in two independent datasets. CONCLUSIONS: rs7251960 is an eQTL for CEACAM3, and CEACAM3 mRNA expression is reduced in subjects experiencing asthma exacerbations. CEACAM3 may be a modulator of RSV latent infection on asthma exacerbations.

An infected urachal cyst presenting as acute abdominal pain in a child: A case report.

INTRODUCTION: Urachal cyst is an exceptionally rare disease in children caused by the incomplete obliteration of the urachal remnant. Urachal cysts seldom cause symptoms unless a secondary infection occurs. The symptoms of an infected urachal cyst are nonspecific and may be similar to acute appendicitis or other acute abdominal conditions. However, complications attributable to a delayed diagnosis can endanger the life of a patient. PATIENT CONCERNS: A 5-year-old boy presented with a 3-day history of severe intermittent lower abdominal pain. DIAGNOSIS: Infected urachal cyst. INTERVENTIONS: The patient was treated with surgical resection of the urachus, followed by intravenous antibiotics during the hospitalization. OUTCOMES: The patient was discharged without incident 7 days after the operation. With his follow-up in our out-patient department, he recovered well without any sequelae in the 6 months post-surgery. CONCLUSION: We suggested using the abdominal echo scan to differentiate the urachal cyst because of its high sensitivity and nonradioactive characteristic, and computed tomography is a typical diagnostic tool for urachal cysts. The mainstream management of an infected urachal cyst remains surgical excision. Complete excision of urachal cysts is relatively easy in a pediatric patient and the risk of subsequent infection is low; however, patients tend to have a low, although possible, risk of potential malignant transformation over their lifetimes.

Misalignment of lung vessels and alveolar capillary dysplasia: a case report with autopsy.

Misalignment of lung vessels (MLV) with or without alveolar capillary dysplasia (ACD) is a rare cause of idiopathic persistent pulmonary hypertension of the neonate. This report describes a full-term infant with severe and intractable pulmonary hypertension. The patient's condition progressively deteriorated despite high-frequency oscillatory ventilation, infusion of magnesium sulfate, dopamine, and dobutamine to control blood pressure, and nitric oxide inhalation therapy. The infant died at 5 days of age. The diagnosis of MLV with ACD was established by autopsy. Histopathologic analysis revealed a failure of formation and an ingrowth of alveolar capillaries, thickening of the alveolar walls, poor contact of capillaries with alveolar epithelium, small intra-acinar muscularized arterioles, and anomalous pulmonary veins within bronchovascular bundles. The low rate of diagnosis of MLV with or without ACD may be because of the early high mortality rate or patchy involvement in some cases. Increasing awareness of this clinical entity may prevent the use of costly, invasive, and probably ineffective procedures. Short-term improvement after inhalation of nitric oxide does not lead to long-term survival but merely provides time for potential lung transplantation.

Clinical manifestations and outcomes of Henoch-Schönlein purpura: comparison between adults and children.

BACKGROUND: Henoch-Schönlein purpura (HSP) primarily affects children, but age at onset is thought to be important in determining disease severity and outcome. This study compared the clinical and laboratory data from children and adults with HSP. METHODS: This retrospective 5-year study enrolled 65 children and 22 adult HSP patients attending a medical center. RESULTS: Gross hematuria and lower-extremity edema were significantly more frequent in adults (p < 0.05). All the children developed renal involvement within 2 weeks, while 67% of the adult patients developed hematuria by the fifth week of disease onset. Elevated white blood cell count and increased erythrocyte sedimentation rate were significantly more common in children (p < 0.05). Adults had a higher frequency of renal involvement (p < 0.05), though this was also present in 14 children (21.54%), 12 with isolated hematuria and proteinuria and two with nephrotic syndrome. All the children maintained normal renal function. Twelve adults had renal involvement (52.6%), six with progression to renal insufficiency. Patients with abdominal pain at disease onset had a significantly higher probability of developing nephrotic syndrome (p < 0.05). Logistic regression revealed that age >20 years, male, bloody stools, clinical course with relapse of purpuric rash, and persistent rash for >1 month were poor prognostic indicators for HSP nephritis (p < 0.05). CONCLUSIONS: HSP nephritis in adults had a higher risk of progression to renal insufficiency. More aggressive treatment and extended follow-up with repeated urinalysis for at least 6 weeks were often necessary, especially in older patients.