Atypical endoscopic appearances of rectal carcinoids are observed more frequently as the size of the tumor increases and a finding of ulceration may have a prognostic value.

Our findings show that the efficacy of EST can be comparable to BFT in a subgroup of constipated patients, especially those with impaired rectal sensation. EST might be considered as an adjunctive therapeutic modality for the management of functional constipation with impaired rectal sensation.

No abstract

Background: GM2 gangliosidosis variant 0 (human Sandhoff disease) is a lysosomal storage disorder caused by deficiencies of acid b-hexosaminidase (Hex) A and Hex B because of an abnormality of the b-subunit, a common component in these enzyme molecules, which is coded by the HEXB gene.Objective: To describe the clinical, pathological, biochemical, and magnetic resonance imaging (MRI) findings of Sandhofflike disease identified in a family of Toy Poodles.Animals: Three red-haired Toy Poodles demonstrated clinical signs including motor disorders and tremor starting between 9 and 12 months of age. The animals finally died of neurological deterioration between 18 and 23 months of age. There were some lymphocytes with abnormal cytoplasmic vacuoles detected.Methods: Observational case study.Results: The common MRI finding was diffuse T2-hyperintensity of the subcortical white matter in the cerebrum. Bilateral T2-hyperintensity and T1-hypointensity in the nucleus caudatus, and atrophic findings of the cerebrum and cerebellum, were observed in a dog in the late stage. Histopathologically, swollen neurons with pale to eosinophilic granular materials in the cytoplasm were observed throughout the central nervous system. Biochemically, GM2 ganglioside had accumulated in the brain, and Hex A and Hex B were deficient in the brain and liver. Pedigree analysis demonstrated that the 3 affected dogs were from the same family line.Conclusions and Clinical Importance: The Sandhoff-like disease observed in this family of Toy Poodles is the 2nd occurrence of the canine form of this disease and the 1st report of its identification in a family of dogs.

Purpose The association of serum lipids with gastric cancer is controversial. We clarified the role of serum lipids in the development, progression, and prognosis of gastric cancer.Materials and Methods In total, 412 patients diagnosed with gastric cancer were prospectively recruited, and 2,934 control subjects who underwent screening endoscopy were enrolled from December 2013 to March 2017 to conduct a case-control study in a tertiary center. Serum lipid profiles, including total cholesterol, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), triglyceride (TG), apolipoprotein A-I (apoA-I), and apolipoprotein B, and clinicopathologic characteristics were analyzed.Results The gastric cancer group showed significantly lower HDL-C, higher LDL-C, and lower apoA-I level than the control group. In multivariate analysis, old age (odds ratio [OR], 1.051; p < 0.001), smoking (OR, 1.337; p < 0.001), a family history of gastric cancer (OR, 2.038; p < 0.001), Helicobacter pylori seropositivity (OR, 4.240; p < 0.001), lower HDL-C (OR, 0.712; p=0.020), and higher LDL-C (p=0.002) were significant risk factors for gastric cancer. Lower HDL-C and higher LDL-C remained significant after adjustments for covariates, including age and sex. In a subgroup analysis of the gastric cancer group, lower TG levels were associated with undifferentiated histology. No serum lipids were associated with overall survival.Conclusion Lower HDL-C and higher LDL-C were associated with the risk of gastric cancer, even after adjusting for age, sex, and other factors. In the gastric cancer group, undifferentiated histology was associated with lower TG levels.

Neuronal ceroid lipofuscinosis (NCL) constitutes a group of recessively inherited lysosomal storage diseases that primarily affect neuronal cells. Such diseases share certain clinical and pathologic features in human beings and animals. Neuronal ceroid lipofuscinosis in Border Collie dogs was first detected in Australia in the 1980s, and the pathogenic mutation was shown to be a nonsense mutation (c.619C>T) in exon 4 in canine CLN5 gene. In the present study, novel rapid genotyping assays including polymerase chain reaction (PCR)-restriction fragment length polymorphism, PCR primer-induced restriction analysis, mutagenically separated PCR, and real-time PCR with TaqMan minor groove binder probes, were developed. The utility of microchip electrophoresis was also evaluated. Furthermore, a genotyping survey was carried out in a population of Border Collies in Japan using these assays to determine the current allele frequency in Japan, providing information to control and prevent this disease in the next stage. All assays developed in the current study are available to discriminate these genotypes, and microchip electrophoresis showed a timesaving advantage over agarose gel electrophoresis. Of all assays, real-time PCR was the most suitable for large-scale examination because of its high throughput. The genotyping survey demonstrated that the carrier frequency was 8.1%. This finding suggested that the mutant allele frequency of NCL in Border Collies is high enough in Japan that measures to control and prevent the disease would be warranted. The genotyping assays developed in the present study could contribute to the prevention of NCL in Border Collies.

ABSTRACT. Immunohistochemistry was performed to assess whether oxidative stress and/or denatured proteins play roles in the pathogenesis of canine degenerative myelopathy (DM). Two Pembroke Welsh Corgi (PWC) dogs with a homozygous mutation (c.118G>A) in the canine superoxide dismutase 1 (SOD1) gene were examined. The pathological features of the dogs were consistent with those of previous cases of DM in PWC. In the spinal lesions, diffuse SOD1 expression was observed in the neurons while no inclusion-like aggregates had formed, which disagreed with the findings of a previous study. A unique inducible nitric oxide synthase (iNOS) staining pattern in reactive astrocytes and a significant increase in ubiquitin immunoreactivity in the spinal lesions were also observed. These findings indicate the involvement of oxidative stress and the accumulation of ubiquitinated proteins in the pathogenesis of canine DM, whereas the role of SOD1 remains unclear.KEY WORDS: canine, degenerative myelopathy, oxidative stress, Pembroke Welsh Corgi.

ABSTRACT. Canine degenerative myelopathy is an adult-onset, progressive neurodegenerative disease that occurs in multiple dog breeds, particularly Pembroke Welsh Corgis. Recently, a degenerative myelopathy-associated mutation of the canine SOD1 gene was identified as c.118G>A (p.E40K). In the present study, genotyping assays using conventional and real-time PCR methods were developed, and a preliminary genotyping survey was performed on 122 randomly selected Pembroke Welsh Corgis without any degenerative myelopathy-related clinical signs to determine the current allele frequency in Japan. Both of the assays provided clear-cut genotyping. The survey demonstrated the frequencies of the G/G wild-type, G/A heterozygote and A/A homozygote to be 9.0, 42.6 and 48.4%, respectively, indicating that the prevalence of the mutant A allele (69.7%) in Pembroke Welsh Corgis is extremely high in Japan.