Novel Mutation in the Feline NPC2 Gene in Cats with Niemann-Pick Disease.

Niemann-Pick disease (NP) type C is an autosomal, recessive, and inherited neurovisceral genetic disorder characterized by the accumulation of unesterified cholesterol and glycolipids in cellular lysosomes and late endosomes, with a wide spectrum of clinical phenotypes. This study aimed to determine the molecular genetic alterations in two cases of felines with NP in Japan, a Siamese cat in 1989 and a Japanese domestic (JD) cat in 1998. Sanger sequencing was performed on 25 exons of the feline NPC1 gene and 4 exons of the feline NPC2 gene, using genomic DNA extracted from paraffin-embedded tissue specimens. The sequenced exons were compared with reference sequences retrieved from the GenBank database. The identified mutations and alterations were then analyzed using different prediction algorithms. No pathogenic mutations were found in feline NPC1; however, c.376G>A (p.V126M) was identified as a pathogenic mutation in the NPC2 gene. The Siamese cat was found to be homozygous for this mutation. The JD cat was heterozygous for the same mutation, but no other exonic NPC2 mutation was found. Furthermore, the JD cat had a homozygous splice variant (c.364-4C>T) in the NPC2 gene, which is not known to be associated with this disease. The NPC2:c.376G>A (p.V126M) mutation is the second reported pathogenic mutation in the feline NPC2 gene that may be present in the Japanese cat population.

Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease).

Glycogen storage disease type II (Pompe disease: PD) is an autosomal recessively inherited fatal genetic disorder that results from the deficiency of a glycogen hydrolyzing enzyme, acid α-glucosidase encoded by the GAA gene. Here, we describe the molecular basis of genetic defects in an 8-month-old domestic short-haired cat with PD. The cat was previously diagnosed with PD based on the clinical and pathological findings of hypertrophic cardiomyopathy and excessive accumulation of glycogen in the cardiac muscles. Sanger sequencing was performed on 20 exons of the feline GAA gene using genomic DNA extracted from paraffin-embedded liver tissues. The affected cat was found to be homozygous for the GAA:c.1799G>A mutation resulting in an amino acid substitution (p.R600H) of acid α-glucosidase, a codon position of which is identical with three missense mutations (p.R600C, p.R600L, and p.R600H) causing human infantile-onset PD (IOPD). Several stability and pathogenicity predictors have also shown that the feline mutation is deleterious and severely decreases the stability of the GAA protein. The clinical, pathological, and molecular findings in the cat were similar to those of IOPD in humans. To our knowledge, this is the first report of a pathogenic mutation in a cat. Feline PD is an excellent model for human PD, especially IOPD.

Gross Anatomy of Urethra and Penis in Uncastrated and Castrated Buck of Black Bengal Goat

SUMMARY: Urethral process, sigmoid flexure, urethra at the pelvic arch and neck of urinary bladder in goats are very much prone to form obstructive urolithiasis. The present study was carried out to establish baseline work on the normal measurement of the urethral passage and different segments of penis of uncastrated and castrated Black Bengal (BB) goat which will be supportive for obstructive urolithiasis management. Different segment of penis along with urethra of 25 uncastrated and 25 castrated male Black Bengal goats were collected from different slaughter house of Chattogram City Corporation. The length and diameter of male urethra and different segment of penis in uncastrated buck were significantly higher (p<.001) than castrated buck. The length of the pelvic urethra was 5.88 ± 0.111 cm and 4.58 ± 0.15 cm in uncastrated and castrated buck respectively. The length of the neck of urinary bladder; root, body, sigmoid flexure, glans penis and urethral process of the penis in uncastrated and castrated buck were 0.688 ± 0.156 cm and 0.38 ± 0.048 cm, 5.02 ± 0.09 cm and 4.24±0.10 cm, 23.48 ± 0.37 cm and 22.74 ± 0.43 cm, 9.2 ± 0.107 cm and 8.18 ± 0.29 cm, 1.92 ± 0.032 cm and 1.44 ± 0.10 cm, 2.32 ± 0.029 cm and 1.78 ± 0.07 cm respectively. The diameter of the neck of urinary bladder, root, body, sigmoid flexure, glans penis and urethral process of the penis in uncastrated and castrated buck were 1.94 ± 0.041 cm and 1.44 ± 0.05 cm, 3.7 ± 0.049 cm and 3.3 ± 0.144 cm, 2.63 ± 0.066 cm and 1.86 ± 0.08 cm, 2.77 ± 0.90 cm and 2.18 ± 0.07 cm , 1.81 ± 0.034 cm and 1.4 ± 0.06 cm, 0.66 ± 0.014 cm and 0.56 ± 0.05 cm respectively. Finally, total lengths of penis in uncastrated and castrated buck were 30.42±0.459 cm and 28.42±0.553 cm respectively. The length and diameter of the neck of the urinary bladder, root, sigmoid flexure, urethral process of the penis are clinically more important for obstructive urolithiasis.

RESUMEN: El proceso uretral, el ángulo sigmoideo, la uretra en el arco pélvico y el cuello de la vejiga urinaria en las cabras son muy propensos a formar urolitiasis obstructiva. El presente estudio se llevó a cabo para establecer un trabajo de referencia sobre la medición normal del pasaje uretral y diferentes segmentos de pene de cabra de Bengala Negra (BB) no castrada y castrada, que serán de apoyo para el manejo de la urolitiasis obstructiva. Se recolectaron diferentes segmentos de pene junto con la uretra de 25 machos de cabras de Bengala negras sin castrar y 25 castrados de diferentes mataderos de Chattogram City Corporation. La longitud y el diámetro de la uretra y los diferentes segmentos del pene en el macho no castrado fueron significativamente más altos (p <0,001) que en el macho castrado. La longitud de la uretra pélvica fue de 5,88 ± 0,111 cm y 4,58 ± 0,15 cm en animales sin castrar y castrados, respectivamente. La longitud del cuello de la vejiga urinaria; raíz, cuerpo, flexión sigmoidea, glande del pene y proceso uretral del pene en el macho sin castrar y castrado fueron 0,688 ± 0,156 cm y 0,38 ± 0,048 cm, 5,02 ± 0,09 cm y 4,24 ± 0,10 cm, 23,48 ± 0,37 cm y 22,74 ± 0,43 cm , 9,2 ± 0,107 cm y 8,18 ± 0,29 cm, 1,92 ± 0,032 cm y 1,44 ± 0,10 cm, 2,32 ± 0,029 cm y 1,78 ± 0,07 cm, respectivamente. El diámetro del cuello de la vejiga urinaria, la raíz, el cuerpo, el ángulo sigmoide, el glande del pene y el proceso uretral del pene en el macho no castrado y castrado fueron 1,94 ± 0,041 cm y 1,44 ± 0,05 cm, 3,7 ± 0,049 cm y 3,3 ± 0,144 cm. 2,63 ± 0,066 cm y 1,86 ± 0,08 cm, 2,77 ± 0,90 cm y 2,18 ± 0,07 cm, 1,81 ± 0,034 cm y 1,4 ± 0,06 cm, 0,66 ± 0,014 cm y 0,56 ± 0,05 cm respectivamente. Finalmente, las longitudes totales de pene en machos castrados y no castrados fueron de 30,42 ± 0,459 cm y 28,42 ± 0,553 cm respectivamente. La longitud y el diámetro del cuello de la vejiga urinaria, la raíz, el ángulo sigmoideo y el proceso uretral del pene son clínicamente más importantes para la urolitiasis obstructiva.

Understanding the Community Perceptions and Knowledge of Bats and Transmission of Nipah Virus in Bangladesh.

Bats are known reservoirs of Nipah virus (NiV) and some filoviruses and also appear likely to harbor the evolutionary progenitors of severe acute respiratory syndrome coronavirus (SARS-CoV), severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), and Middle East respiratory syndrome coronavirus (MERS-CoV). While bats are considered a reservoir of deadly viruses, little is known about people's knowledge, attitudes, and perceptions of bat conservation and ecology. The current study aimed to assess community people's knowledge, attitudes, and perceptions of bat ecology, myths, and the role of bats in transmitting NiV in Bangladesh. Since 2001, NiV has been a continuous threat to public health with a mortality rate of approximately 70% in Bangladesh. Over the years, many public health interventions have been implemented to raise awareness about bats and the spreading of NiV among the community peoples of Nipah outbreak areas (NOAs) and Nipah non-outbreak areas (NNOAs). We hypothesized that people from both areas might have similar knowledge of bat ecology and myths about bats but different knowledge regarding their role in the spreading of NiV. Using a four-point Likert scale-based questionnaire, our analysis showed that most people lack adequate knowledge regarding the role of bats in maintaining the ecological balance and instead trust their beliefs in different myths about bats. Factor score analysis showed that respondents' gender (p = 0.01), the outbreak status of the area (p = 0.03), and their occupation (p = 0.04) were significant factors influencing their knowledge of bat ecology and myths. A regression analysis showed that farmers had 0.34 times the odds of having correct or positive knowledge of bat ecology and myths than businesspersons (odds ratio (OR) = 0.34, 95% confidence interval (95% CI) = 0.15-0.78, p = 0.01). Regarding the spreading of NiV via bats, people had a lower level of knowledge. In NOAs, age (p = 0.00), occupation (p = 0.00), and level of education (p = 0.00) were found to be factors contributing to the amount of knowledge regarding the transmission of NiV, whereas in NNOAs, the contributing factors were occupation (p = 0.00) and level of education (p = 0.01). Regression analysis revealed that respondents who were engaged in services (OR = 3.02, 95% CI = 1.07-8.54, p = 0.04) and who had completed primary education (OR = 3.06, 95% CI = 1.02-9.17, p < 0.05) were likely to have correct knowledge regarding the spreading of NiV. Based on the study results, we recommend educational interventions for targeted groups in the community, highlighting the ecosystem services and conservation of bats so as to improve people's current knowledge and subsequent behavior regarding the role of bats in ecology and the spreading of NiV in Bangladesh.