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.

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.

Real-time PCR genotyping assay for GM2 gangliosidosis variant 0 in toy poodles and the mutant allele frequency in Japan.

GM2 gangliosidosis variant 0 (Sandhoff disease, SD) is a fatal, progressive neurodegenerative lysosomal storage disease caused by mutations of the HEXB gene. In canine SD, a pathogenic mutation (c.283delG) of the canine HEXB gene has been identified in toy poodles. In the present study, a TaqMan probe-based real-time PCR genotyping assay was developed and evaluated for rapid and large-scale genotyping and screening for this mutation. Furthermore, a genotyping survey was carried out in a population of toy poodles in Japan to determine the current mutant allele frequency. The real-time PCR assay clearly showed all genotypes of canine SD. The assay was suitable for large-scale survey as well as diagnosis, because of its high throughput and rapidity. The genotyping survey demonstrated a carrier frequency of 0.2%, suggesting that the current mutant allele frequency is low in Japan. However, there may be population stratification in different places, because of the founder effect by some carriers. Therefore, this new assay will be useful for the prevention and control of SD in toy poodles.

High frequency of a single nucleotide substitution (c.-6-180T>G) of the canine MDR1/ABCB1 gene associated with phenobarbital-resistant idiopathic epilepsy in Border Collie dogs.

A single nucleotide substitution (c.-6-180T>G) associated with resistance to phenobarbital therapy has been found in the canine MDR1/ABCB1 gene in Border Collies with idiopathic epilepsy. In the present study, a PCR-restriction fragment length polymorphism assay was developed for genotyping this mutation, and a genotyping survey was carried out in a population of 472 Border Collies in Japan to determine the current allele frequency. The survey demonstrated the frequencies of the T/T wild type, T/G heterozygote, and G/G mutant homozygote to be 60.0%, 30.3%, and 9.8%, respectively, indicating that the frequency of the mutant G allele is extremely high (24.9%) in Border Collies. The results suggest that this high mutation frequency of the mutation is likely to cause a high prevalence of phenobarbital-resistant epilepsy in Border Collies.

Genotyping assays for the canine degenerative myelopathy-associated c.118G>A (p.E40K) mutation of the SOD1 gene using conventional and real-time PCR methods: a high prevalence in the Pembroke Welsh Corgi breed in Japan.

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.

Identification of Bangladeshi domestic cats with GM1 gangliosidosis caused by the c.1448G>C mutation of the feline GLB1 gene: case study.

GM1 gangliosidosis is a fatal, progressive neurodegenerative lysosomal storage disease caused by mutations in the ß-galactosidase (GLB1) gene. In feline GM1 gangliosidosis, a pathogenic mutation (c.1448G>C) in the feline GLB1 gene was identified in Siamese cats in the United States and Japan and in Korat cats in Western countries. The present study found the homozygous c.1448G>C mutation in 2 apparent littermate native kittens in Bangladesh that were exhibiting neurological signs. This is the first identification of GM1 gangliosidosis in native domestic cats in Southeast Asia. This pathogenic mutation seems to have been present in the domestic cat population in the Siamese region and may have been transferred to pure breeds such as Siamese and Korat cats originating in this region.

Distribution and Quantification of Lymphocytes in the Major Lymphoid Organs of Naturally Gumboro Infected Broilers / Distribución y Cuantificación de Linfocitos en los Órganos Linfoides Principales de Pollos de Engorda Infectados Naturalmente con Gumboro

Gumboro disease is caused by the infectious bursal disease virus (IBDV) which rapidly destroys immature B-lymphocytes of bursa of Fabricious, and causes immune suppression and high mortality in commercial broiler farms in Bangladesh. To investigate the possible effect of IBDV on lymphocytes and its distribution in the major lymphoid organs, bursa of Fabricious including spleen and thymus of naturally Gumboro-infected broilers, a research was conducted in the Department of Anatomy and Histology, collaboration with the Department of Pathology, Bangladesh Agricultural University, Bangladesh. Bursa of Fabricious, spleen and thymus of 21-days-old Gumboro-infected and non-infected broilers of same age (control) were routinely processed and stained by hematoxylin and eosin to examine the distribution of lymphocytes in the major lymphatic organs as well as quantified the number of lymphocytes under high power magnification field and compared with those of control. The number of lymphocytes in bursa of Fabricious, spleen and thymus of Gumboro-infected broilers were 27.20 ± 1.53, 66.50 ± 2.70 and 79.30 ± 3.92 whereas 121 ± 3.82, 89.90 ± 2.09 and 106.30 ± 4.07 were in non-infected control respectively. The numbers of lymphocytes were significantly (p < 0.05) lower in all lymphatic organs of Gumboro-infected broilers than those of non-infected control. The significant numbers of lymphocytes decrease in spleen and thymus suggest that IBVD not only destroy lymphocytes in bursa of Fabricious, but also in spleen and thymus and thus may severely suppress the immune response of IBVD affected broilers.

La enfermedad de Gumboro es causada por el virus de la bursitis infecciosa (VBI), que destruye rápidamente los linfocitos B inmaduros de la bolsa de Fabricio, y causa supresión inmune y la elevada mortalidad en las granjas comerciales de pollos de engorde en Bangladesh. Para investigar el posible efecto del VBI en los linfocitos y su distribución en los órganos linfoides principales, la bolsa de Fabricio, incluyendo el bazo y el timo de pollos de engorde naturalmente infectados con Gumboro, se realizó una investigación en el Departamento de Anatomía e Histología, y el Departamento de Patología, Universidad Agrícola de Bangladesh, Bangladesh. Tanto la bolsa de Fabricio, bazo y el timo de pollos de engorde con 21 días de edad infectados con Gumboro y no infectados de la misma edad (control) se procesaron de forma rutinaria y se tiñeron con H & E para examinar la distribución de los linfocitos en los órganos linfáticos principales, así cuantificar el número de linfocitos bajo campo de alta magnificación y compararlos con los de control. El número de linfocitos en la bolsa de Fabricio, bazo y timo de pollos infectados con Gumboro fue 27,20 ± 1,53, 66,50 ± 2,70 y 79,30 ± 3,92, respectivamente, mientras que en los controles no infectados fue 121 ± 3,82, 89,90 ± 2,09 y 106,30 ± 4,07 respectivamente. El número de linfocitos fue significativamente (p < 0,05) más bajo en todos los órganos linfáticos de pollos de engorde infectados con Gumboro que los no infectados. La disminuición significativa de linfocitos en el bazo y timo, sugiere que el VBI no sólo destruye linfocitos en la bolsa de Fabricio, sino también en el bazo y el timo y, por tanto, puede suprimir severamente la respuesta inmune de pollos de engorde afectados por VBI.

Clinical anatomy of the head region of the black bengal goat in Bangladesh / Anatomía clínica de la región de la cabeza de la cabra negra bengal en Bangladesh

The study involved the measurements of some clinically important landmarks for regional anesthesia in the maxillary and mandibular regions of head of fifty Black Bengal (BB) goats. The distance from facial tuberosity to the infra-orbital canal and from the latter to the root of the alveolar tooth directly ventral to it were 1.85 cm and 1.75 cm respectively. Both the distances from facial tuberosity to infra-orbital canal and from infra-orbital canal to the root of the alveolar tooth are of clinical important even in live animal as a guide for tracking infra-orbital nerve because of facial tuberosity. The distance between the lateral end of the alveolus of the incisor tooth to the mental foramen was 2.11 cm and are from the mental foramen to the caudal mandibular border was 11.69 cm and important for the regional anesthesia of mental nerve. The length and maximum height of the mandibles were 14.21 cm and 8.83 cm respectively. The distance from Caudal border of mandible to below mandibular foramen was 1.47 cm, while the distance from the mandibular foramen to the base of the mandible, Caudal border of mandibular to the level of mandibular foramen and mandibular foramen to border of mandibular angle were 3.64cm, 0.90 cm and 2.65 cm respectively. Parameters regarding mandible are of c linical important landmarks and will be guide for the regional anesthesia of mandibular nerve block. However, these data was discussed with regard to their application in proper tracking of infra-orbital, mental and mandibular nerves in aid of regional anesthetic procedures for the clinical affection around the head of the Black Bengal goat.

El estudio incluyó la medición de algunos puntos anatómicos de importancia clínica para la anestesia regional en las regiones superior e inferior de la cabeza de cincuenta cabras Negras de Bengal (BB). La distancia desde la tuberosidad facial hasta el canal infraorbitario y de éste a la raíz del diente alveolar directamente ventral a él fueron 1,85 cm y 1,75 cm, respectivamente. Tanto las distancias desde la tuberosidad facial hasta el canal infraorbitario y desde el canal infraorbitario a la raíz del diente alveolar fueron importancia clínica en animales vivos como una guía para el seguimiento del nervio infraorbitario a través de la tuberosidad facial. La distancia entre el extremo lateral de los alvéolos de los dientes incisivos al foramen mental fue de 2,11 cm y desde el foramen mental al borde mandibular caudal fue 11,69 cm y es importante para la anestesia regional del nervio mentoniano. La longitud y la altura máxima de las mandíbulas fueron 14,21 cm y 8,83 cm respectivamente. La distancia desde el borde caudal de la mandíbula por debajo del foramen mandibular fue de 1,47 cm, mientras que la distancia desde el foramen mental hasta la base de la mandíbula, desde el borde caudal de la mandíbula a nivel del foramen mandibular y del foramen mandibular hasta el borde del ángulo mandibular fueron 3,64cm , 0,90 cm y 2,65 cm, respectivamente. Los parámetros en relación con la mandíbula son puntos anatómicos de importancia clínica y sirven de guía para la anestesia regional del bloqueo del nervio mandibular. No obstante, estos datos fueron discutidos en relación a su aplicación en el seguimiento adecuado de las infraestructuras de los nervios infraorbitario, mental y mandibular en ayuda a procedimientos anestésicos regionales para el uso clínico alrededor de la cabeza de cabra de Bengal Negra.

Surgical anatomical measurements of patellar ligaments for blind method of medial patellar desmotomy of cattle during upward patellar fixation in Bangladesh / Mediciones anatómicas quirúrgicas del ligamento patelar por técnica ciega en la desmotomía medial patelar de ganado durante la fijación superior de la patela en Bangladesh

The study was aimed to determine the accurate location of giving incision and the width of the incision required to correct the problem of upward patellar fixation during blind method of medial patellar desmotomy. We took measurements of patellar ligaments in stifle joint of 50 indigenous and 50 crossbred slaughtered cattle without any apparent musculo-skeletal disorders were analysed. The average length and width of lateral, middle, and medial patellar ligaments for indigenous cattle were 9.360 +/- 0.339 and 3.056 +/- 0.226; 10.230 +/- 0.382 and 2.019 +/-0.258; 10.519 +/- 0.429 and 2.430 +/-0.232; for crossbred cattle 10.636 +/- 0.601 and 3.608 +/- 0.368; 11.580 +/- 0.724 and 2.330 +/- 0.205; 12.366 +/- 0.710 and 2.890 +/- 0.234 cm respectively. The average groove width for indigenous cattle and crossbred cattle between middle and medial ligament were 1.356 +/- 0.160 and 1.828 +/-0.186 cm and the highest width of groove between middle and medial patellar ligaments from the level of most cranial bulging of the cranial tibial tuberosity in the upward direction were 4.234 +/- 0.269 and 5.645 +/-0.358 cm respectively. Parameters measured were significantly different (p0.05) between indigenous and crossbred cattle. This study was suggested that incision should be made 4.234 +/- 0.269 and 5.645+/-0.398 cm proximally from the level of the most cranial bulging of cranial tibial tuberosity at the groove between middle and medial patellar ligaments, 2.430 +/-0.232 and 2.890+/-0.186 cm the mean width of the medial ligament to be cut during blind method of medial patellar desmotomy in indigenous and crossbred cattle respectively during surgical correction of upward patellar fixation.

El estudio fue dirigido a determinar la ubicación exacta de la incisión y el ancho necesario de la incisión para corregir el problema de la fijación superior patelar durante la técnica ciega de la desmotomia medial patelar. Se tomaron y analizaron medidas del ligamento patelar en la rodilla de 50 bovinos indígenas y 50 bovinos mestizos de criadero, sacrificados sin aparentes trastornos músculo-esqueléticos. El promedio de longitud y ancho lateral, central y medial del ligamento patelar para el ganado indígena fueron 9,360 +/- 0,339 y 3,056 +/- 0,226; 10,230 +/- 0,382 y 2,019 +/- 0,258; 10,519 +/- 0,429 y 2,430 +/- 0,232, y para el ganado mestizo 10,636 +/- 0,601 y 3,608 +/- 0,368; 11,580 +/- 0,724 y 2,330 +/- 0,205; 12,366 +/- 0,710 y 2,890 +/- 0,234 cm, respectivamente. El promedio del ancho del surco para el ganado bovino indígena y el mestizo entre el ligamento medio y ligamento medial fue 1,356 +/- 0,160 y 1,828 +/- 0,186 cm, y el máximo ancho del surco entre el ligamento medio y ligamento medial patelar desde el nivel más craneal del abultamiento de la tuberosidad tibial craneal en dirección hacia superior fueron 4,234 +/- 0,269 y 5,645 +/- 0,358 cm, respectivamente. Los parámetros medidos fueron significativamente diferentes (p 0,05) entre el ganado indígena y el ganado mestizo. Este estudio puede sugerir que la incisión puede ser hecha 4,234 +/- 0,269 y 5,645 +/- 0,398 cm proximalmente desde el nivel más craneal del abultamiento de la tuberosidad tibial craneal hasta el surco entre el ligamento patelar medio y medial. 2,430 +/- 0,232 y 2,890 +/- 0,186 cm fue la media del ancho del ligamento medio a ser cortada durante la técnica ciega de la desmotomía medial patelar del ganado indígena y mestizo respectivamente, durante la corrección quirúrgica de fijación superior patelar.