Neuronal ceroid lipofuscinosis (NCL) is a group of rare lethal neurodegenerative lysosomal storage diseases that occur in a range of dog breeds, including Chihuahuas. Recently, a homozygous single base-pair deletion (c.846delT), which causes a frame shift generating a premature stop codon (p.Phe282Leufs13*) in the canine CLN7/MFSD8 gene, has been identified as a causative mutation for NCL in Chihuahuas. The objective of this study was to determine the frequency of the mutant allele and/or carrier rate of NCL in Chihuahuas in Japan using a newly designed real-time PCR assay. Samples of saliva were randomly collected from 1007 Chihuahua puppies during physical examinations prior to the transportation to pet shops. Screening results revealed a carrier rate of 1.29%, indicating a mutant allele frequency (0.00645) that is considered sufficiently high to warrant measures for the control and prevention of this lethal disease. The genotyping assay designed in this study could make a valuable contribution to the control and prevention of NCL.

GM1 gangliosidosis is a progressive, recessive, autosomal, neurodegenerative, lysosomal storage disorder that affects the brain and multiple systemic organs due to an acid β-galactosidase deficiency encoded by the GLB1 gene. This disease occurs in the Shiba Inu breed, which is one of the most popular traditional breeds in Japan, due to the GLB1:c.1649delC (p.P550Rfs*50) mutation. Previous surveys performed of the Shiba Inu population in Japan found a carrier rate of 1.02–2.94%. Currently, a miniature type of the Shiba Inu called “Mame Shiba”, bred via artificial selection to yield smaller individuals, is becoming more popular than the standard Shiba Inu and it is now one of the most popular breeds in Japan and China. The GM1 gangliosidosis mutation has yet to be surveyed in the Mame Shiba population. This study aimed to determine the frequency of the mutant allele and carrier rate of GM1 gangliosidosis in the Mame Shiba breed. Blood samples were collected from 1832 clinically healthy adult Mame Shiba Inus used for breeding across 143 Japanese kennels. The genotyping was performed using a real-time PCR assay. The survey found nine carriers among the Mame Shibas, indicating that the carrier rate and mutant allele frequency were 0.49% and 0.00246, respectively. This study demonstrated that the mutant allele has already been inherited by the Mame Shiba population. There is a risk of GM1 gangliosidosis occurrence in the Mame Shiba breed if breeders use carriers for mating. Further genotyping surveys are necessary for breeding Mame Shibas to prevent the inheritance of this disease.

Immune adaptation plays an essential role in determining pregnancy, which has been shown to be dependent on sufficient immunological tolerance mediated by FOXP3+ regulatory T cells. Recently, an X-linked maternal single-nucleotide polymorphism (SNP), located 2175 base pairs upstream of the start codon in the bovine FOXP3 gene (NC_037357.1: g.87298881A>G, rs135720414), was identified in Japanese Black (JB: Bos taurus) cows in association with recurrent infertility. However, with the exception of JB cows, the frequency of this SNP has yet to be studied in other cow populations. In this study, we thus aimed to evaluate the frequency of this SNP in different cow breeds. Between 2018 and 2021, a total of 809 DNA samples were obtained from 581 JB, 73 Holstein Friesian (HF: B. taurus), 125 Korean Hanwoo (KH: B. taurus coreanae), and 30 Indonesian Madura (IM: a crossbreed between B. indicus and B. javanicus) cows, which were genotyped using a TaqMan probe-based real-time polymerase chain reaction assay designed in this study. The frequency of the G allele was found to be relatively high in local IM (0.700), moderate in dairy HF (0.466), and low in beef JB (0.250) and KH (0.112) cows, with differences in the frequencies between each group being shown to be statistically significant (p < 0.005) using Fisher’s exact test. The results obtained in this study indicate that the G allele frequencies of the identified the SNP differ markedly in different breeds of taurine and indicine cattle. Given these findings, it would thus be important to evaluate the relationships between high frequencies of the G allele and infertility in different breeds.

Background: The splenium is the posterior most part of the corpus callosum; ageand sex-related differences in splenial morphology may influence some behavioural and neuropsychological functions; however, controversies still prevail on sexual dimorphism of the splenium. Objective: To provide data on morphology of the splenium of the corpus callosum in a Bangladeshi population. Materials and Methods: This crosssectional, descriptive study was done in the Department of Anatomy, Dhaka Medical College, Dhaka, Bangladesh, from July 2009 to June 2010, based on collection of 60 adult human brains (36 male and 24 female) from the morgue of the same institution. The samples were divided into four age groups: A (20-29 years), B (30-39 years), C (40-49 years) & D (50-59 years).The length and width of the splenium were measured in formalin-fixed brain by using a digital slide calipers in mm. Results: A total of 32 (52%) tubular shaped and 28 (47%) bulbous shaped splenium was found. Tubular shaped splenium was more observed in adult males, while bulbous shape was more evident in adult females; the difference was statistically significantinall age groups. The mean length of splenium was found 13.52±0.20 mm in group A, while 13.53±0.18 mm in group B, 13.46±0.05 mm in group C and 13.47±0.05 mm in group D (p>0.05). The mean length of the splenium was larger in male in comparison to female i.e. in group A (13.60±0.25 mm vs. 13.43±0.04 mm; p<0.05), in group B (13.61±0.20 mm vs. 13.40±0.01 mm; p<0.01), in group C, (13.50±0.02 mm vs. 13.40±0.01 mm; p<0.001) and in group D (13.50±0.01 mm vs. 13.40±0.01 mm; p<0.001). The mean width of splenium was found 10.41±0.32 mm in group A, while 10.39±0.19 mm in group B, 10.36±0.21 mm in group C and 10.32±0.20 mm in group D(p>0.05). However, the mean width of the splenium was found greater in female than that of male, i.e. in group A (10.65±0.07 mm vs. 10.21±0.32 mm; p<0.01), in group B, (10.59±0.05 mm vs. 10.25±0.09 mm; p<0.001), in group C(10.61±0.04 mm vs. 10.20±0.03 mm; p<0.001), and in group D (10.60±0.03 mm vs. 10.20±0.02 mm; p<0.001). Conclusion: Our data suggest that the splenium of the corpus callosum has genderrelated variations; however, no age-related variation is evident. Bang. J Neurosurgery 2021; 11(1): 30-35

Objective: A Cross-sectional descriptive type of study was done in the Department of Anatomy, Dhaka Medical College, Dhaka, from July 2008 to June 2009, to see the variation in the volume of the adrenal glands with age in Bangladeshi people. Materials & Methods: The study was performed on 140 post mortem human adrenal glands collected from 70 unclaimed dead bodies which were in the morgue under examination in the Department of Forensic Medicine, Dhaka Medical College, Dhaka. The samples were divided into four age-groups including group A (11-20 years), group B (21-30 years), group C (31-40 years) & group D (41-60 years). The length, breadth and thickness of each adrenal gland were measured by using a slide calipers. Then the volume of each adrenal gland was determined by the product of its length, breadth and thickness multiplied by 0.52, according to the prolate ellipsoid formula. Results: The mean volume of the right adrenal glands were found 6.36±0.85 cm3 in group A (11-20 years), 6.49±0.76 cm3 in group B (21-30 years), 6.50±0.80 cm3 in group C (31-40 years), 6.76±0.79 cm3 in group D (41-60 years). The mean volume of the left adrenal glands were found 6.97±1.02 cm3 in group A (11-20 years),6.93 ±0.83 cm3 in group B (21-30 years), 6.65±0.79 cm3 in group C (31- 40 years), 7.09±0.81 cm3 in group D (41-60 years). The differences between the right and left adrenal glands and the difference between age groups were not statistically significant. Bangladesh Journal of Medical Science Vol. 12 No. 03 July ’13 Page 282-285 DOI: http://dx.doi.org/10.3329/bjms.v12i3.15425