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.

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.

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.

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.

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.

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.

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.