Combining Fresnel and block prisms to measure large angles of strabismic deviation.

Purpose: A method was developed to measure strabismic angles >50 by stacking commercially available Fresnel and block prisms in the same direction ("piggyback prisms").

Methods: With a laser pointer (wavelength of 532 nm) as the light source, the deviation of the laser spot produced by the stacked prisms was measured on a tangent screen placed 100 cm away from the prisms. To the obtained data with combinations of Fresnel prisms (5-40) and block prisms (10-50), a cubic surface function was fitted by polynomial regression.

Loss of CAPS2/Cadps2 leads to exocrine pancreatic cell injury and intracellular accumulation of secretory granules in mice.

The type 2 Ca-dependent activator protein for secretion (CAPS2/CADPS2) regulates dense-core vesicle trafficking and exocytosis and is involved in the regulated release of catecholamines, peptidergic hormones, and neuromodulators. CAPS2 is expressed in the pancreatic exocrine acinar cells that produce and secrete digestive enzymes. However, the functional role of CAPS2 in vesicular trafficking and/or exocytosis of non-regulatory proteins in the exocrine pancreas remains to be determined.

Deficiency of protocadherin 9 leads to reduction in positive emotional behaviour.

Protocadherin 9 (Pcdh9) is a member of the cadherin superfamily and is uniquely expressed in the vestibular and limbic systems; however, its physiological role remains unclear. Here, we studied the expression of Pcdh9 in the limbic system and phenotypes of Pcdh9-knock-out mice (Pcdh9 KO mice). Pcdh9 mRNA was expressed in the fear extinction neurons that express protein phosphatase 1 regulatory subunit 1 B (Ppp1r1b) in the posterior part of the basolateral amygdala (pBLA), as well as in the Cornu Ammonis (CA) and Dentate Gyrus (DG) neurons of the hippocampus.

The optimal cut-off value of non-cycloplegic autorefraction for diagnosing myopia in school-aged children.

Purpose: To determine the optimal cut-off value of non-cycloplegic autorefraction for diagnosing myopia and estimating myopia prevalence in school-aged children.

Study Design: Retrospective case-control study.

Subjects And Methods: Based on age and sex, case-control data were extracted from the medical records of children who underwent autorefraction before and after instillation of 1% cyclopentolate eye drops.

Loss of the N-acetylgalactosamine side chain of the GPI-anchor impairs bone formation and brain functions and accelerates the prion disease pathology.

Glycosylphosphatidylinositol (GPI) is a posttranslational glycolipid modification of proteins that anchors proteins in lipid rafts on the cell surface. Although some GPI-anchored proteins (GPI-APs), including the prion protein PrP, have a glycan side chain composed of N-acetylgalactosamine (GalNAc)-galactose-sialic acid on the core structure of GPI glycolipid, in vivo functions of this GPI-GalNAc side chain are largely unresolved. Here, we investigated the physiological and pathological roles of the GPI-GalNAc side chain in vivo by knocking out its initiation enzyme, PGAP4, in mice.

Peripheral refraction in Japanese schoolchildren with low to moderate myopia.

Purpose: To report the profile of peripheral refraction in Japanese children with mild to moderate myopia and compare it with reported data from other countries.

Study Design: Cross-sectional study.

Methods: Subjects were 76 Japanese children with myopia (mean± SD [range] spherical equivalent, -3.

Double-under muscle transposition: an effective surgical option for large-angle paralytic strabismus.

Purpose: To describe our surgical outcomes using a novel muscle transposition procedure, or double-under muscle transposition (DUT), in the treatment of paralytic strabismus.

Methods: In this surgery, the split halves of the superior and inferior rectus muscles opposite the paralyzed muscle are disinserted, crossed under both the remaining half and the paralyzed muscle, and anchored at opposite corners of the insertion of the paralyzed muscle. The medical records of consecutive patients who underwent DUT were retrospectively reviewed.

Impact of endogenous melatonin on rhythmic behaviors, reproduction, and survival revealed in melatonin-proficient C57BL/6J congenic mice.

The hormone melatonin is synthesized from serotonin by two enzymatic reactions (AANAT and ASMT/HIOMT) in the pineal gland following a circadian rhythm with low levels during the day and high levels at night. The robust nightly peak of melatonin secretion is an output signal of the circadian clock to the whole organism. However, so far the regulatory roles of endogenous melatonin in mammalian biological rhythms and physiology processes are poorly understood.

Targeting oxytocin receptor (Oxtr)-expressing neurons in the lateral septum to restore social novelty in autism spectrum disorder mouse models.

Autism spectrum disorder (ASD) is a continuum of neurodevelopmental disorders and needs new therapeutic approaches. Recently, oxytocin (OXT) showed potential as the first anti-ASD drug. Many reports have described the efficacy of intranasal OXT therapy to improve the core symptoms of patients with ASD; however, the underlying neurobiological mechanism remains unknown.

Adverse reactions to 1% cyclopentolate eye drops in children: an analysis using logistic regression models.

Purpose: To determine the frequency, symptoms and risk factors for adverse reactions to two-times instillation of 1% cyclopentolate in children.

Study Design: Prospective, observational study.

Methods: The subjects were 646 patients who underwent cycloplegic refraction with cyclopentolate (mean age; 7.

Formulas to Estimate Appropriate Surgical Amounts of Unilateral Recession-Resection in Intermittent Exotropia with Distance-Near Disparity.

The purpose of this study was to derive new formulas to provide an optimal surgical procedure and optimal amount of recession-resection (RR) surgery in intermittent exotropia (IXT) with a disparity in angle of deviation depending on the fixation distance. The records of 117 consecutive patients with IXT who underwent RR surgery between March 2008 and December 2011 at Okayama University Hospital were retrospectively examined. Multivariable linear regression analysis was performed using the observed corrective angle of deviation at distance or near fixation as the dependent variable, and amounts of lateral rectus muscle (LR) recession (mm) and medial rectus muscle (MR) resection, and age at surgery (years) as independent variables.

Risk factors for excessive postoperative exo-drift after unilateral lateral rectus muscle recession and medial rectus muscle resection for intermittent exotropia.

Background: To detect significant factors associated with excessive postoperative exo-drift in young patients with intermittent exotropia who had undergone unilateral lateral rectus muscle recession and medial rectus muscle resection.

Methods: We retrospectively examined the records of 64 consecutive patients < 18 years old who underwent surgery between April 2004 and December 2011. We sought risk factors for excessive postoperative exo-drift among patients' demographic and clinical characteristics using univariate and multivariable linear regression analysis.

Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.

Pogo transposable element derived with ZNF domain (POGZ) has been identified as one of the most recurrently de novo mutated genes in patients with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), intellectual disability and White-Sutton syndrome; however, the neurobiological basis behind these disorders remains unknown. Here, we show that POGZ regulates neuronal development and that ASD-related de novo mutations impair neuronal development in the developing mouse brain and induced pluripotent cell lines from an ASD patient. We also develop the first mouse model heterozygous for a de novo POGZ mutation identified in a patient with ASD, and we identify ASD-like abnormalities in the mice.

A new mouse model of GLUT1 deficiency syndrome exhibits abnormal sleep-wake patterns and alterations of glucose kinetics in the brain.

Dysfunction of glucose transporter 1 (GLUT1) proteins causes infantile epilepsy, which is designated as a GLUT1 deficiency syndrome (GLUT1DS; OMIM #606777). Patients with GLUT1DS display varied clinical phenotypes, such as infantile seizures, ataxia, severe mental retardation with learning disabilities, delayed development, hypoglycorrhachia, and other varied symptoms. mutant mice mutagenized with N-ethyl-N-nitrosourea (ENU) carry a missense mutation in the gene that results in amino acid substitution at the 324th residue of the GLUT1 protein.

Autophosphorylation of F-actin binding domain of CaMKIIβ is required for fear learning.

CaMKII is a pivotal kinase that plays essential roles in synaptic plasticity. Apart from its signaling function, the structural function of CaMKII is becoming clear. CaMKII - F-actin interaction stabilizes actin cytoskeleton in a dendritic spine.

Differences in the Stability and Amount of Postoperative Exodrift with Age after Unilateral Lateral Rectus Muscle Recession and Medial Rectus Muscle Resection of Intermittent Exotropia.

We investigated variances in the stability and amount of postoperative exodrift among age groups of intermittent exotropia (XPT) patients who underwent unilateral lateral rectus muscle recession and medial rectus muscle resection. We analyzed the cases of 110 consecutive patients who underwent the surgery in 2004-2011, dividing the patients into groups by their age at surgery: <10, 10-19, and ≥20 years. We performed a regression analysis (dependent variable: postoperative exodrift (°); independent variable: number of days post-surgery) using the formula of curve lines.

[Does Malnutrition during Fetal Life Have a Potential to Be a Precipitating Factor for Developmental Disorders?].

Objectives: The developmental origins of health and disease paradigm (DOHaD) is a concept that fetal environmental factors affect adult phenotypes. We performed experiments to evaluate the DOHaD theory in developmental disorders using mouse models.

Methods: In vitro fertilization and embryo transfer techniques were used for mouse production.

Role of METTL20 in regulating β-oxidation and heat production in mice under fasting or ketogenic conditions.

METTL20 is a seven-β-strand methyltransferase that is localised to the mitochondria and tri-methylates the electron transfer flavoprotein (ETF) β subunit (ETFB) at lysines 200 and 203. It has been shown that METTL20 decreases the ability of ETF to extract electrons from medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) and glutaryl-CoA dehydrogenase in vitro. METTL20-mediated methylation of ETFB influences the oxygen consumption rate in permeabilised mitochondria, suggesting that METTL20-mediated ETFB methylation may also play a regulatory role in mitochondrial metabolism.

CRISPR/Cas9-mediated genome editing in wild-derived mice: generation of tamed wild-derived strains by mutation of the a (nonagouti) gene.

Wild-derived mice have contributed to experimental mouse genetics by virtue of their genetic diversity, which may help increase the chance of identifying novel modifier genes responsible for specific phenotypes and diseases. However, gene targeting using wild-derived mice has been unsuccessful because of the unavailability of stable embryonic stem cells. Here, we report that CRISPR/Cas9-mediated gene targeting can be applied to the Japanese wild-derived MSM/Ms strain (Mus musculus molossinus).

Protein-restricted diet during pregnancy after insemination alters behavioral phenotypes of the progeny.

Background: Epidemiological studies suggest that hyponutrition during the fetal period increases the risk of mental disorders such as attention deficit hyperactivity disorder and autism-spectrum disorder, which has been experimentally supported using animal models. However, previous experimental hyponutrition or protein-restricted (PR) diets affected stages other than the fetal stage, such as formation of the egg before insemination, milk composition during lactation, and maternal nursing behavior.

Results: We conducted in vitro fertilization and embryo transfer in mice and allowed PR diet and folic acid-supplemented PR diet to affect only fetal environments.

Microphthalmia-associated transcription factor ensures the elongation of axons and dendrites in the mouse frontal cortex.

Long interspersed element-1 (LINE-1) is a mammalian transposable element, and its genomic insertion could cause neurological disorders in humans. Incidentally, LINE-1 is present in intron 3 of the microphthalmia-associated transcription factor (Mitf) gene of the black-eyed white mouse (Mitf allele). Mice homozygous for the Mitf allele show the white coat color with black eye and deafness.

Paternal Aging Affects Behavior in Pax6 Mutant Mice: A Gene/Environment Interaction in Understanding Neurodevelopmental Disorders.

Neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit and hyperactivity disorder (ADHD) have increased over the last few decades. These neurodevelopmental disorders are characterized by a complex etiology, which involves multiple genes and gene-environmental interactions. Various genes that control specific properties of neural development exert pivotal roles in the occurrence and severity of phenotypes associated with neurodevelopmental disorders.