Clinical frailty assessment might be associated with mortality in incident dialysis patients.

Frailty is associated with mortality in maintenance dialysis patients. For incident dialysis patients, we used the clinical frailty scale (CFS) to investigate frailty as related to mortality or hospitalization within 2 years. We retrospectively reviewed the medical records of patients initiating hemodialysis or peritoneal dialysis during 2016-2018.

Measurement of laryngeal elevation time using a flexible surface stretch sensor.

Background: Dysphagia is a growing health problem in aging societies. An observational cohort study targeting community-dwelling populations revealed that 16% of elderly subjects present with dysphagia. There is a need in elderly communities for systematic dysphagia assessment.

Application of a wearable switch to perform a mouse left click for a child with mix type of cerebral palsy: a single case study.

Children with cerebral palsy may face difficulties using handheld pointing devices, due to involuntary muscle movements. This study aimed at describing the idea of the new wearable sensor switch and assessing its feasibility as an access solution in a case of mixed-type cerebral palsy. The study participant was a 17-year-old male with mixed-type cerebral palsy characterized by chorea-athetotic movements and bilateral spasticity with gross motor function classification system level V.

[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].

Beta-propeller protein-associated neurodegeneration (BPAN) is one of the neurodegenerative disorders characterized by iron deposition in the brain and is the only known disease in humans to be caused by an aberration in autophagocytosis. Here, we present the case of a 42-year-old woman with BPAN identified by the WDR45 mutation. From early childhood, she was recognized as having global developmental delay, and she frequently sucked her hand, which was considered to be a stereotypical movement.

[Supplementation of L-carnitine to the severe motor and intellectual disabilities fed with enteral carnitine-deficient formulas for years].

Objective: We clarified the asymptomatic deficiency of serum free-carnitine in the severe motor and intellectual disabilities (SMIDs) fed with enteral carnitine-deficient formulas for years, and investigated the adequate method to supply enteral L-carnitine and maintain its normal levels.

Methods: In 45 SMIDs who has been fed with carnitine-deficient formulas and/or receiving valproate, the serum free-carnitine levels were examined. To the carnitine deficient cases we introduced L-carnitine and/or a carnitine-supplemented formula to normalize and maintain the serum free-carnitine levels.

A new in vitro system for evaluation of passive intestinal drug absorption: establishment of a double artificial membrane permeation assay.

The aim of this present study was to establish a new in vitro assay, double artificial membrane permeation assay (DAMPA), to evaluate the human intestinal permeability of drugs. A double artificial membrane with an intracellular compartment was constructed in side-by-side chambers by sandwiching a filter containing buffer solution with impregnated lipophilic filters with dodecane containing 2w/v% phosphatidylcholine. Permeation data of ionic compounds clearly indicated that not only the pH value of the apical solution but also that of the intracellular compartment affected the permeability across the double artificial membrane.

Genotype-phenotype correlations in alternating hemiplegia of childhood.

Objective: Clinical severity of alternating hemiplegia of childhood (AHC) is extremely variable. To investigate genotype-phenotype correlations in AHC, we analyzed the clinical information and ATP1A3 mutations in patients with AHC.

Methods: Thirty-five Japanese patients who were clinically diagnosed with AHC participated in this study.

Effect of CPS14217C>A genotype on valproic-acid-induced hyperammonemia.

Background: In order to clarify the factors causing hyperammonemia and to predict occurrences during treatment with valproic acid (VPA), we investigated the effect of the genetic polymorphism of carbamoyl-phosphate synthase 1 (CPS14217C>A) on susceptibility of hyperammonemia, together with the effect of coadministration of other anticonvulsants.

Methods: Seventy-nine patients with epilepsy were enrolled, and five of them had hyperammonemia. Univariate and multivariate logistic regression analyses were performed.

Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.

Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle. Although a combination of molecular methods have been used including DNA sequencing of all 10 exons and exon-intron boundaries of OTC gene, only approximately 80% of patients with OTC deficiency are found to have mutations. We report two known and three novel mutations of the OTC gene in five Japanese patients including two neonatal-onset, one late-onset, and two symptomatic female patients.

Removal of the skin blood flow artifact in functional near-infrared spectroscopic imaging data through independent component analysis.

We investigate whether the functional near-infrared spectroscopic (fNIRS) signal includes a signal from the changing skin blood flow. During a locomotor task on a treadmill, changes in the hemodynamic response in the front-parietal area of healthy human subjects are simultaneously recorded using an fNIRS imaging system and a laser Doppler tissue blood flow meter. Independent component analysis (ICA) for fNIRS signals is performed.

The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 gene.

Sotos syndrome is caused by the haploinsufficiency of the NSD1 gene located in 5q35. More than 70% of the Japanese cases carry microdeletions encompassing of this gene, while point mutations are common in Caucasians. Only 15 familial cases of Sotos syndrome have been reported and all cases shown to have not microdeletions but point mutations.

PDGF-alpha receptor expression following hypoxic-ischemic injury in the neonatal rat brain.

Hypoxia-ischemia (HI) causes injury to oligodendrocytes (OLs), cells which create the myelin sheath in the developing brain. OLs pass successively through progenitor and immature stages during differentiation into mature OLs. Only the OLs in the progenitors stage can express the platelet-derived growth factor-a receptor (PDGF-R(alpha)) so that its expression is one of the cellular markers of OL progenitors.

Clinical features of infants with subependymal germinolysis and choroid plexus cysts.

Background: Periventricular cysts are not rare findings in neonates. However, they are sometimes associated with serious clinical complications, such as congenital viral infections and anomalies.

Methods: We performed a retrospective follow-up study on newborns who had periventricular cysts on routine cranial ultrasound examination.

Pallister-Mosaic syndrome and neuronal migration disorder.

We diagnosed Pallister-Mosaic syndrome (PMS) in a 4-month-old female infant. In addition to the presence of non-specific anomalies, involving anorectal, finger and ear anomalies, characteristic cranio-facial features and irregular skin lesions that appeared after age 2 months suggested the possibility of genetic mosaicism, PMS in particular. Fluorescence in situ hybridization technique revealed an extra copy of chromosome 12p; i (12p) in 30% of cultured skin fibroblasts.

Molecular genetics of spinal muscular atrophy: contribution of the NAIP gene to clinical severity.

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive disorders characterized by degeneration of anterior horn cells in the spinal cord, and leads to progressive muscular weakness and atrophy. At least three SMA-related genes have been identified: SMN1, NAIP and p44t. We analyzed these genes in 32 SMA patients and found that the SMN1 gene was deleted in 30 of 32 patients (94 %), irrespective of clinical type.

[Evaluation of the developing human visual system using flash-visual evoked potential].

Flash visual evoked potential (Flash-VEP) is easily recorded in preterm infants. However, its clinical application has not been established due to its great variability in response. Our longitudinal studies on the two components of the N1 wave facilitated peak definition and established normal ranges that are clinically valuable.

Combination effect of systemic hypothermia and caspase inhibitor administration against hypoxic-ischemic brain damage in neonatal rats.

Caspases are believed to play a key role in the delayed neuronal cell death observed in the rat brain after hypoxic-ischemic (HI) insult. Caspase inhibitors have been developed as antiapoptotic agents. Hippocampal damage after HI insult is strongly related to tissue temperature, and systemic hypothermia has been introduced clinically for brain protection.

Induction of heat shock proteins and its effects on glial differentiation in rat C6 glioblastoma cells.

Heat shock proteins (HSPs) are immediately expressed in neuronal and glial cells under various stressful conditions and play a protective role through molecular chaperones. We investigated the characteristics of the induction manner of heme oxygenase-1 (HO-1) and HSP70 in rat C6 glioblastoma cells. In heat treatment (42 degrees C for 30 min), C6 cells expressed high level of HO-1 and HSP70 mRNAs within 30-60 min, and their proteins at 3 hrs.

Effects of preterm extrauterine visual experience on the development of the human visual system: a flash VEP study.

To compare the functional maturation of the human visual system between intra- and extrauterine course flash visual evoked potentials (VEPs) in preterm infants (gestational age 24 to 36 weeks). Previously established normal values, with special reference to the two components of the N1 wave, were employed (Tsuneishi 1995). A cross-sectional analysis of 124 infants at 36 weeks postmenstrual age (PMA), showed that there are no differences in the absolute values of VEP peak latencies depending on the postnatal age (PNA).

Stepwise decrease in VEP latencies and the process of myelination in the human visual pathway.

To assess the progress in myelination in the developing human brain, a prospective longitudinal study of flash visual evoked potentials (VEPs) was performed in 22 healthy preterm infants with the same gestational age at birth (between 30 weeks 0 day and 31 weeks 0 day). The individual curves of the changes in the N1a peak latency (the early peak of the N1 wave) decrease not linearly but in a stepwise pattern in the preterm period. Twenty-one infants out of the 22 have one or more 'acceleration week(s)' in which the latency decreases at a rate of more than 6 ms per week.

Neonatal renal artery blood flow velocities using color Doppler ultrasonography.

Background: It is essential to evaluate the renal function for the management of high risk neonates. Color Doppler ultrasound technique can provide a useful information to evaluate the neonatal renal artery blood flow velocities. This study was performed to obtain the normative data of renal blood flow velocities in preterm and fullterm neonates and to compare the renal blood flow velocities with the aortic blood flow velocities.