The weather condition and epidemics as triggers for febrile seizure: A single-center retrospective observational study.

Objective: The objective of this study was to investigate the association between the weather and epidemic condition and risk of febrile seizures (FSs) in Japan.

Study Design: This single-center, retrospective study included 560 children (age, 6-60 months) with FSs who were transported to our center by ambulance from January 2011 through December 2018. The weather (temperature, atmospheric pressure, relative air humidity, amount of rainfall, sunshine duration, and air concentration of nitrogen dioxide [NO] and sulfur dioxide [SO]) and epidemic (influenza virus infection, infectious gastroenteritis, and exanthem subitum) conditions in this region were compared between the periods (days or weeks) with the transportation of children with FS to our hospital and those without such transportation.

Short-term neurodevelopmental outcomes of focal febrile seizures.

Objective: The effect of complex febrile seizures (FS), specifically focal FS, on long-term neurodevelopmental outcome is not well known. The aim of this study was to assess the association between complex FS and neurodevelopmental outcome.

Methods: A single-center, retrospective, cohort study was performed.

Change in the strategy for prophylactic diazepam use for febrile seizures and the impact on seizure recurrence within 24 h.

Purpose: To investigate the association between reduced prophylactic diazepam usage and short-term recurrence of febrile seizures (FSs) after the FS practice guideline was updated in Japan.

Method: In this single-center, retrospective study, children (6-60 months of age) with FS who were transported to our center by ambulance from January 2011 through December 2018 were included. Rectal administration of diazepam (0.

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

The molecular basis of nephronophthisis, the most frequent genetic cause of renal failure in children and young adults, and its association with retinal degeneration and cerebellar vermis aplasia in Joubert syndrome are poorly understood. Using positional cloning, we here identify mutations in the gene CEP290 as causing nephronophthisis. It encodes a protein with several domains also present in CENPF, a protein involved in chromosome segregation.

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children. Identification of four genes mutated in NPHP subtypes 1-4 (refs. 4-9) has linked the pathogenesis of NPHP to ciliary functions.

Identification of neuron-specific promoters in Ciona intestinalis.

We isolated 5' flanking regions of four genes, Ci-Galphai1, Ci-arr, Ci-vAChTP, and Ci-vGAT, each of which is expressed in distinct sets of neurons in the central nervous system of the ascidian Ciona intestinalis, and we examined their function by introducing green fluorescent protein (GFP)-fusion constructs into Ciona embryos. The reporter gene driven by the 5' flanking region of Ci-Galphai1, Ci-arr, and Ci-vAChTP recapitulated the endogenous gene expression patterns, while that of Ci-vGAT can drive GFP expression in particular subsets of neurons expressing the endogenous gene. Deletion analysis revealed that the Ci-Galphai1 promoter consists of multiple regulatory modules controlling the expression in different types of cells.

Sensitization and habituation of the swimming behavior in ascidian larvae to light.

Ascidian larvae of Ciona intestinalis change their photic behavior during the course of development. Newly hatched larvae show no response to a light stimulus at any intensity. At 4 hr after hatching, larvae were induced to start to swimming upon the cessation of illumination, and to stop swimming upon the onset of illumination.

Gene expression profiles in tadpole larvae of Ciona intestinalis.

A set of 12,779 expressed sequence tags (ESTs), both the 5'-most and 3'-most ends, derived from Ciona intestinalis tadpole larvae was categorized into 3521 independent clusters, from which 1013 clusters corresponding to 9424 clones were randomly selected to analyze genetic information and gene expression profiles. When compared with sequences in databases, 545 of the clusters showed significant matches (P < E-15) with reported proteins, while 153 showed matches with putative proteins for which there is not enough information to categorize their function, and 315 had no significant sequence similarities to known proteins. Sequence-similarity analyses of the 545 clusters in relation to the biological functions demonstrated that 407 of them have functions that many kinds of cells use, 104 are associated with cell-cell communication, and 34 are transcription factors or other gene-regulatory proteins.