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Hereditary spinocerebellar ataxia (SCA) is a group of genetic neurodegenerative disorders caused by a variety of gene variants. At least 44 types of SCAs have been identified to date, and more than 35 genes and hundreds of variants have been reported that are associated with SCAs. We have investigated a Pakistani consanguineous six-generation family with SCA by using whole-exome sequencing analysis. We identified a reported SCA-associated variant, c.C2687G (p.P896R) in CACNA1A, in only a subgroup of the family, while a c.C262T (p.P88S) variant in ARFIP1 serves as a candidate pathogenic variant in the other subgroup as a possible novel cause of SCA. Our study showed that intra-familial heterogeneity may exist in SCA families and presented a candidate new causative gene for SCA. [ABSTRACT FROM AUTHOR]

The members of genus Moniezia are the common parasites of livestock in tropical areas. The tapeworm, Moniezia expansa is commonly found in the gastrointestinal tract of the small and large ruminants. The present study focused on reporting the prevalence of M. expansa in small ruminants of southern Punjab: sheep and goats, in relation with epidemiological factors like age and gender. An overall prevalence of 27.2% was estimated for the small ruminants with higher infection rates in males (29.8%) and younger age group (<1 year; 32.9%). Moreover, the molecular characterization and phylogenetic analysis of the isolates based on partial cox1 gene indicated the placement of these sequences in the M. expansa cluster. Two distinct haplotypes, without any host tropism, were identified within the Pakistani isolates. A meta-analysis for M. expansa was run for all available global reports exhibiting an overall pooled prevalence of 21.3% (CI 95%: 13.5–29.0). Additionally, a global dataset encompassing 59 partial cox1 sequences submitted from different geographical locations was also assessed. Moderate haplotype diversity (0.760 ± 0.051) and significantly negative deviations from neutrality were estimated. The median joining haplotype network for these sequences revealed an interesting population structure indicating highly divergent sequences from China and Iraq compared to Pakistan, India, Vietnam, Senegal and Ethiopia. Given inconsistencies in genetic data there is a dire need to carry out molecular studies across the entire distributional range of M. expansa to delineate genetic diversity and population structure of the species. This will also be crucial in reevaluating the taxonomy of genus Moniezia. [ABSTRACT FROM AUTHOR]

Economy of Pakistan is heavily dependent upon agriculture and extensive use of pesticide is quiet common to enhance the crop yield. Imidacloprid is among the first choice pesticides in Pakistan and it has been reported that through run off along with water it ends up in water bodies affecting non target aquatic fauna. Through the present investigation, we are reporting the effects of Imidacloprid on the fatty acids composition of a non-target, commercially important carp: Labeo rohita. Fish were exposed to sub lethal concentration of Imidacloprid (120 mgL1) for 2, 4 and 8 days (short term) as well as for 16, 32 and 64 days (long term experimental conditions). Pesticide untreated controls were also maintained for each treatment. Following the specific Imidacloprid exposure, fatty acid composition (%) was determined in the muscle of all experimental groups by using gas chromatography. Fish exposed to Imidacloprid for 8 days had reduced Palmitic acid (p = 0.02) and elevated muscle Arachidic acid (p < 0.001) than control group. Labeo rohita exposed to the pesticide for 32 days had elevated muscle Oleic (p = 0.02) and Linoleic acid (p = 0.02) while fish exposed to Imidacloprid to 64 days had reduced muscle Palmitic (p = 0.04) and Oleic acid (p = 0.03). In conclusion, we are reporting that the exposure to sub lethal concentration of Imidacloprid disturb the muscle fatty acid composition of Labeo rohita that may affect its food quality. The effects were more pronounced under long term experimental conditions and were probably due to potentiating lipid peroxidation and disturbed fish metabolism upon Imidacloprid exposure. [ABSTRACT FROM AUTHOR]

Rheumatoid arthritis (RA) is one of the most common autoimmune diseases in the world causing painful and swollen joints. RA is a progressive disease that can lead to various physical disabilities. The current study aimed to assess the association of the presence/absence of GSTM1, GSTT1 and single nucleotide polymorphism [SNP] (rs1695) in GSTP1 gene with RA. A cross-sectional study was conducted at Institute of Zoology, Bahauddin Zakariya University Multan from May 2020 to March 2021 and included RA patients (cases; N = 100) and controls (N = 100) enrolled from Multan district in Pakistan. A T-ARMS PCR protocol was applied to report the genotype at studied GSTs. The association of rs1695 in GSTP1 with RA was studied either individually or in various combinations with GATM1 and T1. A significant association of absence of GSTT1 and heterozygous genotype (AG) at rs1695 in GSTP1 was found to be associated with RA in the present study. Subjects whose age varied between 41 and 55 years and women suffered more from RA. It is concluded that polymorphisms in GSTs may disturb the protection provided by them against oxidative stress which may influence disease progression in RA. [ABSTRACT FROM AUTHOR]

Background Copper oxide (Cu2O) nanoparticles (CO NPs) are in extensive use during our everyday life as antimicrobial agent, lubricant, in manufacturing electrodes of lithium ion batteries as well as for photo catalytic degradation of organic pollutants. Due to extensive and diverse use Cu2O NPs, they are likely to accumulate in the environment and to affect the live forms. Present investigation was aimed to report the biocompatibility of CO NPs in Wistar rats in sex specific manner. CO NPs, having average diameter of 14.06 nm, were synthesized by co-precipitation method and scanning electron microscopy and X ray diffraction were used for their characterization. Methods For 14 consecutive days, Wistar rats (6 weeks old) of both sexes were intraperitoneally injected with 10 mg/mL saline/Kg body weight of CO NPs, while the control groups intraperitoneally received saline solution for same duration. Behavioral tests (open field and novel object recognition), complete blood count, selected biomarkers of oxidative stress and Copper concentration in brain and liver were determined in all subjects. Results High mortality rates [male 40% and female 60%] were observed in rats exposed to CO NPs. A sever decrease in body weight was also observed in both male and female rats exposed to CO NPs. Female rats treated with CO NPs spent significantly more time with novel object as compared to control [ P  = 0.05] during second trial of novel object test. CO NPs treated female rats had higher mean corpuscular hemoglobin [ P  < 0.001] levels and Copper concentration in liver [ P  = 0.04] than control. Male rats exposed to CO NPs had significantly higher mean corpuscular volume [ P  = 0.02] and superoxide dismutase [SOD] [ P  = 0.04] in lungs than their control group. All other studied parameters non significantly varied upon comparison between CO NPs treated and untreated rats of both sex. Conclusion In conclusion, we are reporting that intraperitoneal injections of CO NPs for 14 days can disturb complete blood count and biomarkers of oxidative stress in lungs of Wistar rats. [ABSTRACT FROM AUTHOR]

Raising small ruminants is the main source of income for farmers in Pakistan especially in rural areas of Dera Ghazi Khan in Punjab. Despite having large sheep population, the prevalence of intra-erythrocytic protozoa, Theileria (T.) lestoquardi, has never been reported from this area. This study was conducted to fill this knowledge gap and 333 blood samples of apparently healthy small ruminants (168 sheep and 165 goats) along with their epidemiological data were collected from Dera Ghazi Khan district during August till November 2022. The polymerase chain reaction (PCR) analysis amplified a 785 base pair amplicon specific for the Merozoite surface antigen (ms 1–2) gene of T. lestoquardi in 2 out of the 168 (3.3%) sheep blood samples, while no goat blood sample out of 165 was found to be infected with T. lestoquardi. DNA sequencing confirmed the presence of Theileria lestoquardi in both samples and phylogenetic analysis revealed that these amplicon resembled the partial ms 1–2 gene sequences detected in small ruminants from Pakistan, India Iran and Egypt. All the studied epidemiological factors (age, sex, breed, size of herd, dogs with herd, composition of herd, size of herd and Tick burden on sheep) were not found associated with the prevalence of T. lestoquardi. In conclusion, this study reports a low prevalence of T. lestoquardi infection in the Dera Ghazi Khan District of Punjab, Pakistan. The data generated from this work will help pave the way for the prophylactic detection and control of ovine and caprine theileriosis in the region. [ABSTRACT FROM AUTHOR]

This study investigates the molecular prevalence and phylogenetic characteristics of two prominent blood-borne pathogens, Toxoplasma gondii (T. gondii) and Plasmodium spp., in common quails (Coturnix coturnix) sampled from both wild (N = 236) and farmed (N = 197) populations across four districts (Layyah, Dera Ghazi Khan, Lahore, and Multan) in Punjab, Pakistan, during the hunting seasons from 2021 to 2023. Additionally, the impact of these pathogens on the complete blood count (CBC) of the hosts is examined. Out of 433 quails tested, 25 (5.8%) exhibited amplification of the internal transcribed spacer (ITS-1) gene for T. gondii, while 15 (3.5%) showed amplification of the Cytochrome b gene for Plasmodium spp. A risk factor analysis indicated that the prevalence of both pathogens was not confined to specific sampling sites or bird sexes (P > 0.05). District-wise analysis highlighted that hens were more susceptible to both T. gondii and Plasmodium spp. infections than cocks. Wild quails exhibited a higher susceptibility to T. gondii compared to farmed birds. Significant CBC variations were recorded in infected birds as compared to uninfected ones. BLAST analysis of generated sequences has confirmed the identity of recovered PCR amplicons as T. gondii and Plasmodium relictum. Phylogenetic analysis revealed that Pakistani isolates clustered with those reported from various countries globally. This study provides the first documentation of T. gondii and Plasmodium sp. infections in Pakistani quails, underscoring the need for detailed investigations across different regions to enhance our understanding of infection rates and the zoonotic potential of these parasites. [ABSTRACT FROM AUTHOR]