The clinical utility of a near patient care rapid microarray-based diagnostic test for influenza and respiratory syncytial virus infections in the pediatric setting.

We evaluated the potential clinical utility of an automated near patient molecular assay Verigene Respiratory Virus Plus (RV+) and rapid immunochromatographic antigen tests (RIAT) in the pediatric setting for diagnosis of influenza and respiratory syncytial virus infections when testing was performed by the pediatrician seeing the patient. Overall, with respect to influenza virus, sensitivity and specificity for RIAT were 70.8% and 100%, respectively, compared to 100% and 96.2%, respectively, for RV+. For respiratory syncytial virus, sensitivity and specificity for RIAT were 78.9% and 100%, respectively, compared to 100% and 100%, respectively, for RV+. When RIAT and RV+ sensitivity for influenza virus was compared based on the time the patient presented after onset of fever, the sensitivity of RIAT at 6 hours was 37.5% compared to 100% for RV+. At 12 hours, RIAT improved to 60.9%. This study confirms the clinical utility of RV+ in the pediatric setting.

Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.

Oral-facial-digital syndrome type 1 (OFD1; MIM 311200) is characterized by multiple anomalies of the oral cavity, face and digits. We report a family with OFD1, where two female siblings and their mother shared the same mutation of the responsible gene (OFD1) c.1193_1196delAATC. Phenotypic variability was observed among them; the mother showed minimal features of OFD1, whereas her two daughters showed partial features and the full spectrum of OFD1, respectively. Thus, OFD1 was suspected only after a health check-up during pregnancy of the second patient showing fetal brain anomaly and maternal polycystic kidney. For these reasons, there was a delay in the recognition of OFD1 in this family. Patients with OFD1 show phenotypic variability, which poses challenges for genetic counseling.

A severe form of epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma.

Here we report a boy with epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma. The patient had epidermal nevi and complicated brain malformations including macrocephaly with polymicrogyria, dysmorphic and enlarged midbrain tectum, enlarged cerebellar hemispheres with small and maloriented folia. The patient died after surgical resection of medulloblastoma which was newly recognized on MRI at 51 days of age. Postmortem pathological examinations showed very unique and bizarre malformation of the midbrain and hindbrain. The cerebellar cortex exhibited a coarse, irregular and bumpy surface, blurred border between the Purkinje cell layer and internal granule cell layer, and many foci of heterotopia in the cerebellar white matter. The brainstem showed multiple anomalies, including enlargement of superior colliculi, hypoplasia of pyramidal tracts and dysplasia of inferior olivary nuclei. The unusual constellation of brain malformations of our patient will widen the spectrum of epidermal nevus syndrome.

Effects of parenteral soybean oil lipid emulsion on the long-chain polyunsaturated fatty acid profile in very-low-birth-weight infants.

AIM: Conventional soybean lipid emulsions contain no docosahexaenoic acid (DHA) or arachidonic acid (AA). We investigated the relationship between blood DHA and AA status in 27 very-low-birth-weight (VLBW) infants with or without parenteral lipid emulsion. METHODS: Sixteen infants received parenteral lipid emulsion, and 11 infants were control group. The fatty acid composition of the erythrocyte membrane was analysed at birth and at 2 weeks of age. RESULTS: No significant difference in AA levels was observed in the lipid emulsion group between the two time points, whereas the AA levels at 2 weeks were significantly lower than at birth in the control group. The DHA levels in both groups at 2 weeks were significantly lower than at birth, but no group differences were observed at both time points. CONCLUSION: The use of parenteral soybean oil lipid emulsions in VLBW infants in the postnatal period may prevent the decline in the AA level but does not appear to influence the DHA level.

A need for play specialists in Japanese children's wards.

The importance of distraction techniques and play therapy for sick children has long been recognised by nurses in the UK and other western countries. Although these techniques are not so well established in Japan there is growing interest in them. The authors conducted a survey and found that children's nurses in Japan appreciated the value of distraction techniques and play therapy. They argue that attitudes to using them on children's wards in Japan are changing, but there is still a lack of training and few play specialists.

Association between iron status and neurodevelopmental outcomes among VLBW infants.

OBJECTIVE: Our purpose was to evaluate iron status and neurodevelopmental outcomes in infants with and without extrauterine growth restriction (EUGR). METHODS: This observational study evaluated 38 medically stable premature infants, with birth weights below 1500g. Iron status was determined by measuring venous levels of Hb, Fe, and serum ferritin. The infants were divided into EUGR and non-EUGR groups. At a corrected age of 18months, neurodevelopmental outcomes were checked using the Bayley scales, and body weight, body length, and head circumference were measured. RESULTS: Hb levels at corrected ages of 1 and 3months and iron at a corrected age of 1 and 9months were significantly lower in the EUGR group compared with those of the non-EUGR group. There was no significant difference in the MDI score between the groups, but the PDI score at a corrected age of 18months was significantly lower in the EUGR group. We found a positive correlation between the serum level of Fe at 1month of age and PDI score at 18months of age. Head circumference at a corrected age of 18months did not differ between two groups, although body weight and length were lower in the EUGR group. CONCLUSIONS: Developmental outcome in preterm infants at a corrected age of 18months may be influenced by nutritional factors, including iron status, during their early life.

Neurodevelopment in the offspring of Japanese systemic lupus erythematosus patients.

OBJECTIVE: To evaluate pregnancy outcome of systemic lupus erythematosus (SLE) and the neuropsychological outcomes in offspring of SLE mothers. STUDY DESIGN: Pregnancy outcomes of SLE patients from 1989 to 2006 were determined and the neuropsychological development of the children born to SLE patients was examined suited for their age; Bayley Scales of Infant Development up to four years and Kauffmann Assessment Battery for Children from four years onwards. RESULTS: Of the 233 deliveries, 58 (24.7%) were preterm, 72 (30.9%) were low-birth-weight, and 46 (19.7%) were IUGR. Twenty-six children enrolled in this study had normal intelligence. The mean MDI and PDI were 95.8+/-10.1 and 94.6+/-14.1, respectively. The mean scores for the Sequential Processing scale, Simultaneous Processing scale, and Mental Processing composite were 103.1+/-13.3, 104.2+/-10.2, and 104.2+/-12.2, respectively. In the children with anti-Ro/SS-A antibody-positive mothers, mean gestational age and birth weight were significantly lower (p<0.05), as a result, the mean score of Sequential Processing and Mental Processing were significantly lower than that of negative mothers. The presence of maternal antiphospholipid antibody was not related to gestational age, birth weight and any score on the intelligence tests, except for the rate of IUGR. CONCLUSION: The rates of preterm delivery and IUGR were frequent in the SLE patients and careful monitoring and management of the disease during pregnancy are still necessary. We should examine the neurodevelopment of the children born from mothers with anti-Ro/SS-A antibody prospectively.