Reimplantation approach for an anomalous aortic origin of the right coronary artery with an aberrant right subclavian artery.

Anomalous aortic origin of the right coronary artery is a rare disease. Although there are various reports on its treatment, the method of the surgical approach is still controversial. Here, we present a rare case of a 17 year-old man who had an anomalous aortic origin of the right coronary artery with an aberrant right subclavian artery.

Risk Factors of Coronary Artery Abnormalities and Resistance to Intravenous Immunoglobulin Plus Corticosteroid Therapy in Severe Kawasaki Disease: An Analysis of Post RAISE.

Background: Coronary artery abnormalities (CAAs) still occur in patients with Kawasaki disease receiving intensified treatment with corticosteroids. We aimed to determine the risk factors of CAA development and resistance to intensified treatment in Post RAISE (Prospective Observational Study on Stratified Treatment With Immunoglobulin Plus Steroid Efficacy for Kawasaki Disease)-the largest prospective cohort of Kawasaki disease patients to date.

Methods: In Post RAISE, 2648 consecutive patients with Kawasaki disease were enrolled.

A neonatal case of HDR syndrome and a vascular ring with a novel mutation.

HDR syndrome (OMIM #146255) is caused by haploinsufficiency of the gene. A vascular ring has not been reported in patients with -associated HDR syndrome. We report a neonatal case of HDR syndrome and a vascular ring that were possibly due to a novel frameshift mutation in the gene.

Combination therapy of propranolol, levothyroxine, and liothyronine was effective in a case of severe consumptive hypothyroidism associated with infantile hepatic hemangioma.

Infantile hepatic hemangioma (IHH) can be accompanied by consumptive hypothyroidism. We report the case of a 4-mo-old boy who showed massive hepatomegaly, peripheral coldness, lethargy, and failure to thrive. An enhanced computed tomography scans demonstrated multiple hemangiomas in both lobes of the liver, and a thyroid function tests showed severe hypothyroidism: TSH 561.

Efficacy and safety of intravenous immunoglobulin plus prednisolone therapy in patients with Kawasaki disease (Post RAISE): a multicentre, prospective cohort study.

Background: The RAISE study showed that additional prednisolone improved coronary artery outcomes in patients with Kawasaki disease at high risk of intravenous immunoglobulin (IVIG) resistance. However, no studies have been done to test the steroid regimen used in the RAISE study. We therefore aimed to verify the efficacy and safety of primary IVIG plus prednisolone.

Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder.

Among the many regulators of microRNA formation, Argonaute 1 (AGO1) plays critical roles in RNA interference, which controls a wide range of biological activities. Recent large-scale genomic studies have identified at least five patients with intellectual disability/autism spectrum disorder who had de novo mutations in AGO1, but detailed clinical information was not available. The recognizable clinical features that are associated with AGO1 mutations remain to be determined.

Respiratory arrest at the onset of idiopathic childhood occipital epilepsy of Gastaut.

Occipital lobe epilepsy of childhood includes two entities: Panayiotopoulos syndrome in pre-school children, and idiopathic childhood occipital epilepsy of Gastaut (ICOEG) in school-age children. The typical initial manifestation of the former is vomiting, and that of the latter is visual hallucinations. Ictal cardiopulmonary arrest at initial presentation has been reported for Panayiotopoulos syndrome, but not for ICOEG.

Predicting outcomes of neonates born to GBS-positive women who received inadequate intrapartum antimicrobial prophylaxis.

We determined the predicting factors of early-onset group B streptococcal (EOGBS) infection in neonates who were born to GBS carrier mothers with inadequate intrapartum antibiotic prophylaxis (IAP). Medical records of all neonates born from January 1, 2008 to April 1, 2010 were reviewed. Inadequate IAP was defined as delivery less than 4 hours (h) after the first administration of antimicrobial.

Young athlete with sudden cardiac arrest treated with therapeutic hypothermia.

Reported herein is a coronary anomaly that occurred in a young adolescent athlete who presented with cardiopulmonary arrest. The patient was resuscitated and treated with therapeutic hypothermia. The patient had no associated neurological complications at follow up.

Pediatric mumps with laryngeal edema.

Mumps virus infection primarily affects the salivary glands and may incur various complications. Laryngeal edema is such a rare complication that few adult cases have been reported. We report the first known pediatric patient with mumps with laryngeal edema.

Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype.

Supernumerary marker chromosomes (SMCs) lacking alpha-satellite sequences and possessing a newly derived functional centromere are referred to as neocentromere marker chromosomes (NMCs). Although the delineation of the chromosome content of these NMCs would be helpful for genetic counseling, such fine mapping has been difficult because of the limited sizes of the involved segments. We report on a female patient with mosaic NMC involving 3q26.

Thresholds of color attribute differences in detecting camouflaged textures.

We examined the threshold at which a camouflaged color texture pattern (target) embedded in a surrounding colored texture pattern (background) was discriminated by making the difference between their color distributions serve as a cue. The texture consisted of 900 colored disks. The color applied to the disk was chosen from a normal distribution with the mean and the standard deviation set beforehand.