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Mental retardation in a boy with congenital adrenal hypoplasia: a clue to contiguous gene syndrome involving DAX1 and IL1RAPL.
We report on a 2 years and 9 months old Japanese boy with adrenal hypoplasia and mental retardation (MR) (developmental quotient approximately 60) which occurred in the absence of severe adrenalExpand
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Serum vitamin D concentrations and associated severity of acute lower respiratory tract infections in Japanese hospitalized children
Background:  Vitamin D is an immunomodulatory molecule related to innate immunity that may contribute to the increased occurrence of acute lower respiratory infection (ALRI) in children, one of theExpand
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Posterior Reversible Encephalopathy Syndrome in Childhood: Report of Four Cases and Review of the Literature
Background Posterior reversible encephalopathy syndrome (PRES) is a recently described disorder with typical radiological findings of bilateral gray and white matter abnormalities in the posteriorExpand
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Compound Heterozygous Mutations in SLC30A2/ZnT2 Results in Low Milk Zinc Concentrations: A Novel Mechanism for Zinc Deficiency in a Breast-Fed Infant
Zinc concentrations in breast milk are considerably higher than those of the maternal serum, to meet the infant's requirements for normal growth and development. Thus, effective mechanisms ensuringExpand
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  • Open Access
A 4-year-old girl with clinically mild encephalopathy with a reversible splenial lesion associated with rotavirus infection
Rotavirus is a common cause of severe gastroenteritis in children. It is known that rotavirus gastroenteritis may be accompanied by neurological manifestations, including encephalitis/encephalopathyExpand
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Spontaneous pneumomediastinum complicating pneumonia in children infected with the 2009 pandemic influenza A (H1N1) virus.
We report two occurrences of spontaneous pneumomediastinum (SPM) complicating pneumonia in Japanese children infected with the novel influenza A (H1N1) virus (IV). General practitioners especiallyExpand
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Acute Encephalopathy With Pandemic (H1N1) 2009 Virus Infection
Objectives In April 2009, a novel influenza A (H1N1) pdm virus was identified in Mexico and spread quickly around the world. However, the clinical features of acute encephalopathy associated withExpand
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Invasive Community-Acquired Methicillin-Resistant Staphylococcus aureus in a Japanese Girl with Disseminating Multiple Organ Infection: A Case Report and Review of Japanese Pediatric Cases
Pediatric invasive community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA) infection is very serious and occasionally fatal. This infectious disease is still a relatively rare andExpand
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  • Open Access
Effectiveness of imiquimod 5% cream for treatment of perianal warts in a 28‐month‐old child
The prevalence of human papillomavirus (HPV) infection of the genitalia has increased considerably, and condyloma, also known as venereal warts, is now one of the most common sexually transmittedExpand
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Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene.
UNLABELLED We report on a patient with chronic infantile neurological cutaneous and articular (CINCA) syndrome. Sequence analysis revealed a novel missense mutation in exon 4 of the CIAS1 gene. TheExpand
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