Two cases of partial dominant interferon-γ receptor 1 deficiency that presented with different clinical courses of bacille Calmette-Guérin multiple osteomyelitis.

We experienced two cases of unrelated Japanese children with bacille Calmette-Guérin (BCG) multiple osteomyelitis with partial interferon (IFN)-γ receptor 1 (IFNGR1) deficiency. Heterozygous small deletions with frame shift (811 del4 and 818 del4) were detected, which were consistent with the diagnosis of partial dominant IFNGR1 deficiency. Case 1: a 2-year-old boy visited us because of limb and neck pain.

False positive of an immunochromatography kit for detection of norovirus in neonatal feces.

Norovirus was detected in the feces from five neonates in the growing care unit by a rapid immunochromatography (ICG) kit. However, confirmation using reverse transcription polymerase chain reaction (RT-PCR), RT-loop-mediated isothermal amplification (RT-LAMP), and nested RT-PCR methods showed negative results from all the feces. In addition, the ICG test for the detection of norovirus was positive for four cases out of the 16 feces from other asymptomatic neonates/infants.

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.

Brainstem disconnection associated with nodular heterotopia and proatlantal arteries.

We report on a patient with brainstem disconnection associated with periventricular nodular heterotopia and bilateral proatlantal intersegmental arteries. The patient was a girl born after 37 weeks of gestation with birth weight of 1,938 g. Polyhydroamnios and lack of swallowing movement were noted on fetal ultrasonography.

Studies of anti-inflammatory effects of Rooibos tea in rats.

Background: Rooibos tea is known to be caffeine free with abundant flavonoids. Aspalathin and nothofagin, the main flavonoids contained in Rooibos tea, have stronger anti-oxidative activity than other flavonoids. As oxidative stress can induce inflammation, the anti-inflammatory effects of Rooibos tea were investigated using a rat colitis model.

Evaluation of psychosomatic stress in children by measuring salivary chromogranin A.

Aim: To investigate the usefulness of salivary chromogranin A (CgA) and cortisol as stress markers, and the effects of distraction on the suppression of stress in children.

Methods: We examined salivary CgA and cortisol responses before and after venipuncture in hospitalized children with and without distraction using a kaleidoscope.

Results: Salivary CgA levels immediately after venipuncture were significantly higher than those immediately before it, and at 60 min after venipuncture they were significantly lower than those immediately after it.

Bifidobacterium breve enhances transforming growth factor beta1 signaling by regulating Smad7 expression in preterm infants.

Objectives: Transforming growth factor (TGF) beta1 displays a broad spectrum of activities in mucosal regulation, including induction of oral tolerance, potent anti-inflammatory effects, mucosal IgA expression and effects on epithelial cell proliferation and differentiation. The present study examined the effect of probiotics on the immunologic system of preterm infants in relation to TGF-beta signaling.

Methods: Subjects comprised 19 preterm infants divided into 2 groups: receiving Bifidobacterium breve supplementation (B.

Factors involved in the regulation of plasma leptin levels in children and adolescents with anorexia nervosa.

Objective: The effects of changes in body mass index (BMI) and other factors on plasma leptin levels in children and adolescents with anorexia nervosa (AN) were examined.

Methods: Plasma leptin levels and BMI was measured before and after initiation of refeeding therapy every 2 weeks for 8 weeks in 12 children and adolescents with AN. The plasma levels of insulin, cortisol, insulin-like growth factor-I (IGF-I), and tumor necrosis factor-alpha (TNF-alpha) were also measured in these subjects before and after 8 weeks of the refeeding therapy, and the results were compared with those from 12 age-matched healthy girls.

Resting energy expenditure and plasma leptin levels in adolescent girls with anorexia nervosa.

Objective: Our aim was to examine the relationship between resting energy expenditure (REE) and circulating leptin levels during long-term refeeding in adolescent girls with anorexia nervosa (AN).

Method: We measured REE, the plasma leptin level, the free T(3) level, body surface area (BSA), and dietary energy intake in AN adolescents before and 8 weeks after refeeding therapy.

Results: All parameters in AN subjects before the refeeding therapy were significantly lower than those in AN subjects after the therapy and in the controls.