Haploinsufficiency of is likely to contribute to developmental delay involving 14q13 microdeletions.

Nucleotide variations or deletions in the NK2 homeobox 1 gene (), located at 14q13.3, lead to symptoms associated with the brain, lungs, and thyroid, and the combination of these phenotypes is clinically recognized as the brain-lung-thyroid syndrome. Many types of nucleotide variants of have been identified, and phenotypic variability has been reported.

Serum cytokine profile in pediatric Sweet's syndrome: a case report.

Background: Sweet's syndrome is characterized by fever, leukocytosis, and tender erythematous papules or nodules. It is a rare condition, particularly in the pediatric population, and has recently been proposed to be an autoinflammatory disease that occurs due to innate immune system dysfunction, involving several cytokines, which causes abnormally increased inflammation. To the best of our knowledge, no report has documented the cytokine profile in a pediatric patient with Sweet's syndrome.

A Case of Apparent Life-Threatening Event: Comorbid Gastric Volvulus Associated Gastroesophageal Reflux Disease and Epilepsy in a 4-Month-Old Boy.

Most isolated episodes of apparent life-threatening events (ALTEs) do not lead to the diagnosis of serious conditions, and their prognoses are generally benign. However, recurrent ALTEs are often associated with a risk of future serious adverse events and should be evaluated for appropriate management. Here we present ALTE case in which gastric volvulus associated gastroesophageal reflux disease was detected as an etiology initially, followed by the detection of epilepsy as another etiology.

Human parechovirus infections and child myositis cases associated with genotype 3 in Osaka City, Japan, 2014.

Human parechovirus (HPeV) infects humans early in life and typically causes asymptomatic or mild diseases such as gastrointestinal and respiratory illness but sometimes leads to more serious consequences in neonates and young infants. In 2014, we detected HPeV from 38 patients by real-time reverse transcription-PCR in Osaka City, Japan, and 33 HPeV strains were genotyped based on their VP1 sequences. HPeV genotype 3 (HPeV-3) was the most prevalent and accounted for 22 cases (66.