Postoperative Recovery of Gait Function at Early Phase Is Delayed in Patients with Spinal Tumors with Impairment of the Joint Position Sense in the Big Toe: A Retrospective Cohort Study.

Introduction: We investigated the effect of preoperative joint position sense in the big toe on the postoperative recovery of gait function after spinal tumor surgery. Methods: Seventy-three patients with spinal tumors who underwent surgery at our hospital between 2014 and 2019 and could be followed for at least 6 months after surgery were included. The patients were divided into the cervical spinal (41 cases) and thoracic spinal (32 cases) groups according to the localization of the tumor. These groups were further classified into an Impaired group (cervical spinal, 34 cases; thoracic spinal, 19 cases) and an Intact group (cervical spinal, 7 cases; thoracic spinal, 13 cases) according to the presence or absence of preoperative joint position sense in the big toe. The amount of change in ambulatory function from the preoperative period to 3 and 6 months postoperatively was compared between the Impaired and Intact groups within each tumor localization category. Results: Impaired preoperative joint position sense in the big toe in patients undergoing thoracic spinal tumor surgery delayed the recovery of gait function in the early postoperative period. Conclusions: In patients with thoracic spinal tumor surgery, the absence of preoperative joint position sense in the big toe delayed the recovery of postoperative gait function.

New treatment strategy for chronic low back pain with alpha wave neurofeedback.

The lifetime prevalence of low back pain is 83%. Since there is a lack of evidence for therapeutic effect by cognitive behavioral therapy (CBT) or physical therapy (PT), it is necessary to develop objective physiological indexes and effective treatments. We conducted a prospective longitudinal study to evaluate the treatment effects of CBT, PT, and neurofeedback training (NFT) during alpha wave NFT. The early-chronic cases within 1 year and late-chronic cases over 1 year after the diagnosis of chronic low back pain were classified into six groups: Controls, CBTs, PTs, NFTs, CBT-NFTs, PT-NFTs. We evaluated the difference in EEG, psychosocial factors, scores of low back pain before/after the intervention. Therapeutic effect was clearly more effective in the early-chronic cases. We found that the intensity of alpha waves increased significantly after therapeutic intervention in the NFT groups, but did not have the main effect of reducing low back pain; the interaction between CBT and NFT reduced low back pain. Factors that enhance therapeutic effect are early intervention, increased alpha waves, and self-efficacy due to parallel implementation of CBT/PT and NFT. A treatment protocol in which alpha wave neurofeedback training is subsidiarily used with CBT or PT should be developed in the future.

Establishment of an appropriate fall prevention program: A community-based study.

AIM: To identify an appropriate community-based fall prevention program METHODS: We introduced two programs to 24 senior centers, "community salons," in a Japanese city, and carried out a prospective controlled trial between 2004 and 2005. Eight salons (185 participants aged 72.0 ± 7.1 years) received a single-visit program consisting of one multidisciplinary team visit that included fall risk assessment with feedback and a fall prevention lecture. A total of 16 salons (418 participants aged 73.6 ± 7.4 years) received a year-round comprehensive program, with visits carried out every 3 months. We compared the fall rates for 1 year between the two programs. Based on the results, we implemented a modified program until 2014 and examined the long-term consequences. RESULTS: In the prospective controlled trial, fall rates did not differ significantly between programs (P = 0.449). Instead, fall rates for both programs decreased significantly by 0.89 (95% CI 0.84-0.94) times each month. Therefore, we implemented a modified version of the single-visit program. By March 2014, the programs had been delivered to 1863 individuals, and the total number of attendees was 6622. The average attendance frequency per participant was 0.62 times per year. The majority (85.3%) of salons requested the program every year. Overall, the risk of falling (fall rates in the preceding year) decreased significantly as the number of program attendances increased (incident rate ratio = 0.89, 95% CI 0.85-0.92) irrespective of initial program types. CONCLUSIONS: The programs including fall risk assessment with feedback and a fall prevention lecture reduced falls when embedded into the community, and they were accepted well over the course of 10 years. Geriatr Gerontol Int 2017; 17: 1081-1089.

Application of highly differentiated SNPs between Japanese Black and Holstein to a breed assignment test between Japanese Black and F(1) (Japanese Black x Holstein) and Holstein.

Two taurine breeds, Japanese Black and Holstein, established from geographically distant origins and selected for different uses, beef and dairy, were extensively genotyped using a genome-wide single nucleotide polymorphism (SNP) chip with more than 1000 animals of each breed. The genetic structure was examined by principal component analysis, in which the first principal component clearly separated the two breeds and explained more than 15% of the variance. Highly differentiated SNPs were detected throughout the genome, some of which were clustered within small regions on BTA4 (79.2-79.7 Mb, Btau4.0) and BTA26 (22.2-23.6 Mb). A breed assignment test was developed using 18 highly differentiated SNPs to distinguish Japanese Black from F(1) (Japanese Black × Holstein) and Holstein. The error rate that an F(1) or Holstein animal is misjudged as Japanese Black was expected to be < 0.8%, while the error rate that a Japanese Black animal is misjudged as F(1) or Holstein was expected to be < 0.001%. This test provides a reliable and powerful method to detect breed label falsification in retail beef.

Characterization of a Bayesian genetic clustering algorithm based on a Dirichlet process prior and comparison among Bayesian clustering methods.

BACKGROUND: A Bayesian approach based on a Dirichlet process (DP) prior is useful for inferring genetic population structures because it can infer the number of populations and the assignment of individuals simultaneously. However, the properties of the DP prior method are not well understood, and therefore, the use of this method is relatively uncommon. We characterized the DP prior method to increase its practical use. RESULTS: First, we evaluated the usefulness of the sequentially-allocated merge-split (SAMS) sampler, which is a technique for improving the mixing of Markov chain Monte Carlo algorithms. Although this sampler has been implemented in a preceding program, HWLER, its effectiveness has not been investigated. We showed that this sampler was effective for population structure analysis. Implementation of this sampler was useful with regard to the accuracy of inference and computational time. Second, we examined the effect of a hyperparameter for the prior distribution of allele frequencies and showed that the specification of this parameter was important and could be resolved by considering the parameter as a variable. Third, we compared the DP prior method with other Bayesian clustering methods and showed that the DP prior method was suitable for data sets with unbalanced sample sizes among populations. In contrast, although current popular algorithms for population structure analysis, such as those implemented in STRUCTURE, were suitable for data sets with uniform sample sizes, inferences with these algorithms for unbalanced sample sizes tended to be less accurate than those with the DP prior method. CONCLUSIONS: The clustering method based on the DP prior was found to be useful because it can infer the number of populations and simultaneously assign individuals into populations, and it is suitable for data sets with unbalanced sample sizes among populations. Here we presented a novel program, DPART, that implements the SAMS sampler and can consider the hyperparameter for the prior distribution of allele frequencies to be a variable.

Genetic association between GHSR1a 5'UTR-microsatellite and nt-7(C>A) loci and growth and carcass traits in Japanese Black cattle.

We carried out a genetic association study between five nucleotide polymorphisms (5'UTR microsatellite ((TG)(n)), nt-7(C>A), L24V, DelR242 and Intron 1 microsatellite) of the GHSR1a gene and growth and carcass traits in 1285 steers sired by 117 Japanese Black bulls in a progeny testing program. We report herein, a significant association between the 5'UTR microsatellite and nt-7(C>A) loci and growth and carcass traits. We also propose a translational hypothesis that the association is due to differences in the secondary structure of GHSR1b mRNA (the non-spliced type with the 5'UTR microsatellite) among the GHSR1a gene haplotypes. Furthermore, we predicted the potential increase in profitability due to increased carcass weight in cow-calf fattening enterprises through planned matings based on DNA testing of the 5'UTR microsatellite. Statistical analysis revealed that the 5'UTR microsatellite locus had a significant additive effect on carcass weight (CW) and average daily gain (ADG), but not on beef marbling score (BMS). One of the four major microsatellite alleles (19-TG allele) with an allele frequency of 0.145, had a significantly (P < 0.0007) desirable effect on CW and ADG. We concluded that the 19-TG allele could potentially be economically useful nucleotide markers for growth and carcass traits in Japanese Black cattle.

A novel mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Holstein cattle.

Anhidrotic ectodermal dysplasia (EDA) is a genetic disease characterized by the absence or hypoplasia of hair, teeth and eccrine sweat glands that has been reported in humans, the tabby mouse mutants, cattle and dogs. The EDA gene on the X chromosome encodes a protein, ectodysplasin-A (EDA), which is responsible for EDA. Here we describe a novel mutation of the EDA gene in which a 19 bp deletion in exon 1 in male Holstein calves demonstrated the phenotypic features of EDA. The dam and the grand-dam of the affected calves were heterozygous for this deletion. It is assumed that this deletion close to the start codon confuses all transcripts, and leads to the complete loss of pleiotropic functions of the bovine EDA gene. These results suggest that this mutation might be useful as animal models for the investigation of the pathogenic mechanisms of the anhidrotic ectodermal dysplasia.

Nucleotide polymorphisms and the 5'-UTR transcriptional analysis of the bovine growth hormone secretagogue receptor 1a (GHSR1a) gene.

Growth hormone secretagogue receptor 1a (GHSR1a) mediates the different actions of its endogenous ligand, ghrelin. Ghrelin-GHSR is involved in many important functions that include growth hormone secretion and food intake. We evaluated the haplotype variety and characterized the microsatellite ((TG)(n) , 5'-UTR) and nucleotide polymorphisms of the bovine GHSR1a gene. The nucleotide sequencing of this gene (∼6 kb) revealed 47 single nucleotide polymorphisms (SNPs), four indels and the microsatellite ((GTTT)(n) , Intron 1). The 19 haplotypes were constructed from all nucleotide viability patterns and were divided into three major groups. Four SNPs (L24V, nt456(G>A), D191N and nt667(C>T)) and DelR242 in Exon 1 and a haplotype block of approximately 2.2 kb (nt667(C>T) ∼ nt2884 (A>G)) were found in Bos taurus breeds. Breed differences in allele frequencies of the two microsatellites, nt-7(C>A), L24V, and DelR242 loci were found (P < 0.005). A DelR242 was found in the Japanese Shorthorn (frequency: ∼ 0.44), Japanese Brown, five European cattle breeds, the Philippine native cattle, but none detected in the Japanese Black or the Mishima island cattle. Additionally, 5'-rapid amplification of cDNA ends and RT-PCR analyses revealed that there were two different kinds of transcripts: spliced, without a microsatellite within 5'-UTR (GHSR1a); and non-spliced, with the microsatellite (GHSR1b).

Association of a single nucleotide polymorphism in akirin 2 gene with marbling in Japanese Black beef cattle.

BACKGROUND: Marbling defined by the amount and distribution of intramuscular fat, so-called Shimofuri, is an economically important trait of beef cattle in Japan. The c17-25 expressed sequence tag (EST) has been previously shown to possess expression difference in musculus longissimus muscle between low-marbled and high-marbled steer groups, and to be located within genomic region of a quantitative trait locus for marbling. Thus, the akirin 2 (AKIRIN2) gene containing the c17-25 EST sequence was considered as a positional functional candidate for the gene responsible for marbling. In this study, we explored single nucleotide polymorphism (SNP) in the AKIRIN2 and analyzed association of the SNP with marbling. FINDINGS: A SNP in the 3' untranslated region of the AKIRIN2, referred to as c.*188G>A, was the only difference detected between high- and low-marbled steer groups. The SNP was associated with marbling in 3 experiments using 100 sires (P = 0.041), 753 paternal half-sib progeny steers from 4 sires heterozygous for the c.*188G>A (P = 0.005), and 730 paternal half-sib progeny steers from 3 sires homozygous for the A allele at the c.*188G>A (P = 0.047), in Japanese Black beef cattle. The effect of genotypes of the SNP on subcutaneous fat thickness was not statistically significant (P > 0.05). CONCLUSION: These findings suggest that the AKIRIN2 SNP polymorphism is associated with marbling and may be useful for effective marker-assisted selection to increase the levels of marbling in Japanese Black beef cattle.

Association of a single nucleotide polymorphism in titin gene with marbling in Japanese Black beef cattle.

BACKGROUND: Marbling defined by the amount and distribution of intramuscular fat is an economically important trait of beef cattle in Japan. We have recently reported that single nucleotide polymorphisms (SNPs) in the endothelial differentiation, sphingolipid G-protein-coupled receptor, 1 (EDG1) gene were associated with marbling in Japanese Black beef cattle. As well as EDG1, the titin (TTN) gene, involved in myofibrillogenesis, has been previously shown to possess expression difference in musculus longissimus muscle between low-marbled and high-marbled steer groups, and to be located within genomic region of a quantitative trait locus for marbling. Thus TTN was considered as a positional functional candidate for the gene responsible for marbling. In this study, we explored SNP in TTN and analyzed association of the SNP with marbling. FINDINGS: A SNP in the promoter region of TTN, referred to as g.231054C>T, was the only difference detected between high- and low-marbled steer groups. The SNP was associated with marbling in 3 experiments using 101 sires (P = 0.004), 848 paternal half-sib progeny steers from 5 sires heterozygous for the g.231054C>T (P = 0.046), and 820 paternal half-sib progeny steers from 3 sires homozygous for C allele at the g.231054C>T (P = 0.051), in Japanese Black beef cattle. The effect of genotypes of the SNP on subcutaneous fat thickness was not statistically significant (P > 0.05). CONCLUSION: These findings suggest that in addition to the EDG1 SNPs, the TTN SNP polymorphism is associated with marbling and may be useful for effective marker-assisted selection to increase the levels of marbling in Japanese Black beef cattle. Further replicate studies will be needed to confirm the allelic association observed here, and to expand the results to evaluate all possible genotypic combinations of alleles.

Novel SNP in 5' flanking region of EDG1 associated with marbling in Japanese Black beef cattle.

Marbling, defined by the amount and distribution of intramuscular fat, is an economically important trait of beef cattle in Japan. The endothelial differentiation, sphingolipid G-protein-coupled receptor, 1 (EDG1) gene has been considered as a positional functional candidate for the gene responsible for marbling. We have recently reported that 2 single nucleotide polymorphisms (SNPs), c.-312A>G in the 5' untranslated region (UTR) and c.*446G>A in the 3' UTR in EDG1 were associated with marbling in Japanese Black beef cattle, but this was not functional and a causal mutation for marbling. In the present study, we detected 2 novel SNPs, referred to as g.1475435G>A and g.1471620G>T, in the 5' flanking region of the EDG1 between low-marbled and high-marbled steer groups, which were previously shown to have EDG1 expression differences in musculus longissimus muscle. The g.1475435G>A SNP seemed not to segregate in Japanese Black beef cattle. The g.1471620G>T SNP was associated with the predicted breeding value for beef marbling standard number by the analyses using Japanese Black beef cattle population. Based on these findings, we hypothesized that the g.1471620G>T SNP might have an impact on EDG1 expression and also marbling.

Association of a single nucleotide polymorphism in ribosomal protein L27a gene with marbling in Japanese Black beef cattle.

Marbling, defined by the amount and distribution of intramuscular fat, is an economically important trait of beef cattle in Japan. The c2-11#2 expressed sequence tag (EST) has been previously shown to possess expression difference in musculus longissimus muscle between low-marbled and high-marbled steer groups, and to be located within genomic region of a quantitative trait locus for marbling. Thus, the ribosomal protein L27a (RPL27A) gene containing the c2-11#2 EST sequence was considered as a positional candidate for the gene responsible for marbling. In the present study, a single nucleotide polymorphism (SNP) in the promoter region of the RPL27A, referred to as g.3109537C>T, was detected between the 2 steer groups. The SNP was associated with the predicted breeding value for beef marbling standard number by the analyses using Japanese Black beef cattle population. The effect of genotypes of the SNP on the predicted breeding value for subcutaneous fat thickness was not statistically significant. These findings suggest that the RPL27A SNP may be useful for effective marker-assisted selection to increase the levels of marbling in Japanese Black beef cattle.

Polymorphisms for 7 expressed sequence tags showing marbling-associated expression changes.

We have recently showed that the 7 expressed sequence tags (ESTs), c2-11#2, c3-3, c20-29, c22-3, c26-18#1, c26-42, and g5-10, possess expression differences in musculus longissimus muscle between low-marbled and high-marbled steer groups. In the present study, we detected single nucleotide polymorphisms (SNPs) in the 5' flanking regions of the 7 EST sequences between the 2 steer groups. A SNP for the c2-11#2 EST exhibited significantly different allelic distribution between animals with extremely high predicted breeding value for marbling and with extremely low one. The SNP in the ribosomal protein L27a (RPL27A) gene containing the c2-11#2 EST sequence may be related to changes in gene expression and/or marbling.

Polymorphisms in promoter regions of PDHB, SORBS1, and EDG1 genes showing marbling-associated expression changes.

We have recently showed that the pyruvate dehydrogenase (lipoamide) beta (PDHB) gene involved in fatty acid oxidation, the sorbin and SH3 domain containing 1 (SORBS1) gene involved in insulin-stimulated glucose uptake, and the endothelial differentiation, sphingolipid G-protein-coupled receptor, 1 (EDG1) gene involved in blood vessel formation possess expression differences in musculus longissimus muscle between low-marbled and high-marbled steer groups. In the present study, we detected single nucleotide polymorphisms (SNPs) in the promoter regions of the 3 genes between the 2 steer groups. A SNP in the EDG1 exhibited significantly different allelic distribution between animals with extremely high predicted breeding value for marbling and with extremely low one. The EDG1 SNP may be related to changes in gene expression and/or marbling.

Allele frequency distribution of the canine dopamine receptor D4 gene exon III and I in 23 breeds.

Various canine breeds are remarkably different from each other not only in their sizes and shapes but also in behavioral traits, suggesting that some of them are under genetic control. Although dopaminergic neurotransmission system is considered to affect animal behavior, little is known about related genes in canine. Relations between specific alleles in polymorphic regions of the dopamine receptor D4 gene (DRD4) and personality or psychiatric disorders have been reported in humans, and we first found polymorphism in exon III region of the gene in 4 canine breeds. In this study we surveyed allele frequency distribution in 23 breeds including a total of 1,535 unrelated individuals. In exon III, 8 alleles including a novel allele were identified. A group of breeds in which the alleles 447b, 498 and 549 were frequent tended toward high scores in aggression-related behavioral traits than that with frequent alleles 435 and 447a. Moreover, a polymorphism based on 24 bp insertion/deletion was found in exon I region for the first time in dogs. This information may be of use for candidate gene studies of behavioral variation in dogs.

Optimal timing for canine artificial insemination with frozen semen and parentage testing by microsatellite markers in superfecundency.

Parentage testing was performed in sixteen litters by canine artificial inseminations with frozen semen from different sires on Days 5 and 7 after the LH surge. It became apparent that only 25% of dams had superfecundation, but 43.8% of dams were whelped after insemination only on Day 5 after the LH surge and 31.3% of dams after insemination only on Day 7. Of the total 87 puppies, 46% were born after insemination on Day 5 after the LH surge and 54% after insemination on Day 7. This result strongly suggested that canine artificial insemination with frozen semen could be sufficiently successful also on Days 5 and 7 after the LH surge.

Complex vertebral malformation in a stillborn Holstein calf in Japan.

A female stillborn Holstein calf with shortened cervical and thoracic regions, protrusion of the tongue, and bilateral symmetric flexural contraction of the anterior limbs was delivered on gestation day 281. Multiple hemivertebrae, fused and misshaped vertebrae, synostosis and scoliosis of cervical, thoracic and lumbar vertebral column were found in the affected calf by radiographic and computed tomographic (CT) analysis. Ten pairs of ribs were present and the sternum consisted of 9 sternebrae. Multiple morphologic abnormalities including fusion, malformation, and displacement, were found in the ribs and sternum. Cardiac anomalies, including atrial septal defect and hypertrophy of right ventricle, were observed. DNA-polymerase chain reaction (PCR) analysis demonstrated that amplified product from the liver DNA of the affected calf had identical pattern to that associated with complex vertebral malformation (CVM) of Holstein calves and that her dam was a heterozygous carrier of CVM. The affected calf was diagnosed as having CVM based on the DNA-PCR results and the characteristic findings, and was recorded as a first documentation of CVM confirmed in a Holstein calf in Japan.