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The current study was conducted based on the morphological, biochemical, and SSR characterization of wild Oat (Avena fatua L.) genotypes collected from three different Districts of Malakand Division, Pakistan. A significant variance was observed across all twenty morphological parameters, indicating a high likelihood that breeding programs would introduce fresh variety into adapted oat cultivars. A substantial variation was also found for leaf length (32.55%) and stem diameter (28.33%), as compared to the number of spikelet (15.66%). The harvest index and plant height had a high and positive correlation (0.79**), while a negative correlation (-0.76**) was observed for plant height and plant biomass. All genotypes were arranged into three groups based on the cluster analysis, each having a Euclidian distance of 87%. A total of 15 bands were visible for the total seed storage proteins, out of which 10 were polymorphic and 5 were monomorphic. The entire dataset of 54 oat genotypes was split into 2 lineages (L-1 and L-2) based on two-way cluster analysis, with a genetic distance of 36.5% between them and further subdivided into three subgroups at 60% genetic distance. The SSR markers used in this study successfully amplified genomic regions from oat genotypes. Out of 5 SSRs, HVM62 showed the prominent polymorphism, and among eight alleles detected, two were monomorphic and six were polymorphic. Z48431 had the highest PIC value (0.93), followed by HVM62 (0.89). Band-14 had the highest PIC value at 0.90%, followed by bands 9 and 10 (0.80% and 0.50%, respectively). Bands 8, 11, 12, and 13 had the lowest PIC value, correspondingly. The overall findings showed a significant degree of variety in the oat genotypes growing in District Swat and Dir, which offers the potential for the introduction of distinctive diversity in well-adapted oat cultivars. [ABSTRACT FROM AUTHOR]

The goal of this study is to investigate traveler's willingness to use demand responsive transit (DRT) to address transportation challenges in Karachi, a city of Sindh province in Pakistan. DRT is a shared mobility option where vehicles can alter routes according to destinations of passenger. This research is conducted on a questionnaire that is based on a stated preference (SP) survey with well-designed choice experiments. DRT was taken as a hypothetical alternative along with other existing alternatives such as carpooling, minibus, and private car. This research mainly focused on choice experiments of working class and students. It established multinomial logit (MNL) model and nested logit (NL) model for analytical results. Carpooling was taken as reference level in this study. Hypothetical approach was also used for advanced assumptions. The modelling results reveals that working class is more likely to use DRT than students. The socio demographic variables such as gender, age, monthly income and employment were also found to be significant. Service attributes including travel time, travel cost, waiting time, and cancellation fees were also significant. The study concluded with a policy framework that suggest public private participation to initiate this project. Moreover, it also proposed that DRT should be initiated by existing business giants of ridesharing services as they are well aware of the business model of shared mobility. This study can be beneficial to policy makers and government to extend DRT network in developing countries. [ABSTRACT FROM AUTHOR]

Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Determining the bird assemblages is utmost important to identify the adequacy and efficiency of habitats. The line transect method was used to determine patterns of bird relative abundance, diversity indices, and conservation status in Sheikh Badin National Park from November 2017 to December 2019. In total, 7,919 individuals (2,592 migrants and 5,327 inhabitants) representing 42 species and 25 families were enlisted. Of 42 species, 27 were native (i.e., 67.26%) utilizing the study area throughout the year, while the remaining 15 species were migrant (e.g., 32.73%) that used the study area during the winter. Passer domesticus (0.06%), Merops persicus (0.05%), Tachymarptis melba, and Ploceus philippinus (each 0.04%) were the overwhelming bird species. In contrast, Francolinus francolinus (0.02%), Falco tinnunculus (0.008%), and Alectoris chukar (0.005%) were the rarest bird species. All species were identified as “Least Concern” based on IUCN RedList. Diversity results showed birds were assorted a diverse, i.e. H’ = 3.608 (resident birds; H’ = 3.608 and migratory birds; H’ = 2.543), rich; i.e. D = 0.031 (resident birds; D = 0.046 and migratory birds D = 0.093) and evenly distributed J = 0.965 (resident birds, J = 0.967 and migratory birds, J = 0.939). The perceptions of local inhabitants and personnel observation shown that bird species are facing confronting threats due to human endeavor, such as illegal hunting, habitat loss due deforestation, and uncontrolled grazing. [ABSTRACT FROM AUTHOR]

As a result of faunistic study on the Orb weaving spider fauna of Pakistan one genus, Gibbaranea Archer, 1951 and six species, Argiope versicolor (Doleschall, 1859), Argiope lobata (Pallas, 1772), Neoscona polyspinipes (Yin, Wang, Xie and Peng, 1990), Neoscona scylla (Karsch, 1879), Gea spinipes (C. L. Koch, 1843) and Gibbaranea ullrichi (Hahn, 1835) are recorded from Pakistan for the first time and the presence of five species are confirmed. Eriovixia excelsa (Simon, 1889) and Araneus mitificus (Simon, 1886) are recorded for the first time since 1935.COI sequences >200 bp recovered from 23 specimens were analyzed using neighbor-joining trees and Barcode Index Numbers (BINs)Nucleotide alignment for each species is provided with Sample id, Process id, match process id and match BIN. A map showing the local distribution of each species is provided. [ABSTRACT FROM AUTHOR]

Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Bird species richness and diversity are the key factors that determine the health and productivity of an ecosystem. They have occupied a marvelous place, i.e., they play a vital role in the contribution of public consideration towards natural habitats and considered as barometers of an ecosystem. This study was carried out to determine the bird species diversity of the Sheikh Badin National Park, located in District Dera Ismail Khan, Khyber Pakhtunkhwa, Pakistan. For this purpose, bird watching surveys following line transect method were conducted from June 2018 to July 2019 in the study area. A total 3408 individuals (1260 migrants and 2148 residents) representing the 41 bird species were recorded during the surveys. Among the total, 18 species were migrants and 23 residents, belong to 11 Orders and 25 Families. Passeriformes was the dominant encompass of 19 species (9 native and 10 migrants) and 13 families. This national park harbored species richness was r = 41, Shannon-Weiner diversity index (H' = 3.546), evenness (J' 0.955) and Simpson's Diversity (D = 0.966). The foraging guild results revealed that the granivore (2274) and insectivore (565) were the most abundant bird species. The major threats to the avifauna were illegal hunting, grazing and deforestation. [ABSTRACT FROM AUTHOR]

Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Lipases are fat splitting enzymes. Psychrotrophic enzymes including lipases possess huge potential for many industries due to their high activity at low temperatures. Lipase produced by the psychrophilic bacteria HTB2 identified as Pseudomonas mandelii, by using different molecular techniques, isolated from Batura glacier, Hunza Valley, Pakistan, was partially purified through acetone precipitation and gel permeation chromatography. During purification studies two types of peaks were observed in spectrophotometric analysis which indicated the presence of two different sizes of lipases produced by Pseudomonas mandelii HTB2. The purified enzyme from P. mandelii HTB2 showed best activity at 45°C, however, maximum lipase activity was attained at pH 10. It is a unique finding that an enzyme from a psychrophilic bacterium was active at thermophilic range and extreme alkaline condition. This is the first report of purification of lipase from psychrophilic bacteria from Batura glacier, and it holds promise for potential industrial applications. [ABSTRACT FROM AUTHOR]

In context of Bonn Challenge commitment, Pakistan has implemented Billion Tree Afforestation Project (BTAP), the initiative of forest restoration and afforestation. The current research was a pilot one which evaluated the success of plantation and assessed growth performance and survival rate. A total of 115 sample plots (0.07 ha size) were laid out in 17 randomly selected sites extended over 1982 ha. Further, Sentinel-2 images were used to derive vegetation indices and regressed indices values with volume and survival percentage. Results showed that all plantation sites showed good performance in terms of survival rate (above 80%). Highest growth performance was exhibited by Eucalyptus camaldulensis which mean height was1.297 (m) and the lowest was of Deodar 0.35 (m). Among Sentinel- 2 indices, Transformed Normalized Vegetation Index (TNDVI) has the highest value of R2 of 0.425 whereas in case of survival percentage, Normalized Difference Vegetation Index (NDVI) has the highest value of R² of 0.859. Stepwise regression model showed that relationship between NDVI and volume was strongly significant compared to other indices. NDVI differencing of Landsat-8 2013 image and Sentinel-2 2018 image showed that in NDVI range were increased from 0.68 to 0.85, thus showed mosaic restoration and afforestation activities of BTAP. [ABSTRACT FROM AUTHOR]

Autonomous car (AC) also called a self-driving car is becoming popular around the globe. Recent literature on potential benefits of AC has proven the possibility of introducing it in nearby future. Before implementing this technology at the market level viewing its capital cost, it is essential to explore traveler's perception of AC. This paper aims to investigate different factors contributing towards AC acceptance (level-5) by traveler's through a stated preference survey in Pakistan. The survey comprised of the service attributes for two alternatives (AC and popular car) and the socio-demographic characteristics of the traveler's in the country. Binary Logit and Mixed Logit model were developed to explore the factors contributing towards AC acceptance. Most of the service attributes were found significant with exception of comfortability and confidence level. Nearly all of the socio-demographic characteristics of the travelers including age, education, job, and income were observed to be significantly associated with the AC acceptance. The findings of this study can be used by policymakers and transport planning agencies for possible and timely implementation of this technology in the country. [ABSTRACT FROM AUTHOR]

The present study has empirically analyzed the impact of agriculture transformation on rural development with relevance to Pakistan. This study provides analytical biases to the conventional theory of agriculture transformation and rural development, develops their indices and later implements the time series tools for empirical investigation of the phenomenon. We use time series data for the period 1981-2001 and employ cointegration technique and error correction model (ECM) approach. The empirical finding reveals that agriculture transformation has positive and significant impact rural development, which implies that agriculture sector development is a major component for rural life and rural areas can attain higher living standards if agriculture sector is transformed. [ABSTRACT FROM AUTHOR]

Background: Hereditary Spastic Paraplegias (HSPs) and Hereditary Cerebellar Ataxias (HCAs) are progressive neurodegenerative disorders encompassing a spectrum of neurogenetic conditions with significant overlaps of clinical features. Spastic ataxias are a group of conditions that have features of both cerebellar ataxia and spasticity, and these conditions are frequently clinically challenging to distinguish. Accurate genetic diagnosis is crucial but challenging, particularly in resource-limited settings. This study aims to investigate the genetic basis of HSPs and HCAs in Pakistani families., Methods: Families from Khyber Pakhtunkhwa with at least two members showing HSP or HCA phenotypes, and who had not previously been analyzed genetically, were included. Families were referred for genetic analysis by local neurologists based on the proband's clinical features and signs of a potential genetic neurodegenerative disorder. Whole Exome Sequencing (WES) and Sanger sequencing were then used to identify and validate genetic variants, and to analyze variant segregation within families to determine inheritance patterns. The mean age of onset and standard deviation were calculated to assess variability among affected individuals, and the success rate was compared with literature reports using differences in proportions and Cohen's h., Results: Pathogenic variants associated with these conditions were identified in five of eight families, segregating according to autosomal recessive inheritance. These variants included previously reported SACS c.2182 C > T, p.(Arg728*), FA2H c.159_176del, p.(Arg53_Ile58del) and SPG11 c.2146 C > T, p.(Gln716*) variants, and two previously unreported variants in SACS c.2229del, p.(Phe743Leufs*8) and ZFYVE26 c.1926_1941del, p.(Tyr643Metfs*2). Additionally, FA2H and SPG11 variants were found to have recurrent occurrences, suggesting a potential founder effect within the Pakistani population. Onset age among affected individuals ranged from 1 to 14 years (M = 6.23, SD = 3.96). The diagnostic success rate was 62.5%, with moderate effect sizes compared to previous studies., Conclusions: The findings of this study expand the genotypic and phenotypic spectrum of HSPs and HCAs in Pakistan and emphasize the importance of utilizing exome/genome sequencing for accurate diagnosis or support accurate differential diagnosis. This approach can improve genetic counseling and clinical management, addressing the challenges of diagnosing neurodegenerative disorders in resource-limited settings., (© 2024. The Author(s).)

Skeletal dysplasias are a heterogeneous group of disorders presenting mild to lethal defects. Several factors, such as genetic, prenatal, and postnatal environmental may contribute to reduced growth. Fourteen families of Pakistani origin, presenting the syndromic form of short stature either in the autosomal recessive or autosomal dominant manner were clinically and genetically investigated to uncover the underlying genetic etiology. Homozygosity mapping, whole exome sequencing, and Sanger sequencing were used to search for the disease-causing gene variants. In total, we have identified 13 sequence variants in 10 different genes. The variants in the HSPG2 and XRCC4 genes were not reported previously in the Pakistani population. This study will expand the mutation spectrum of the identified genes and will help in improved diagnosis of the syndromic form of short stature in the local population., (© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Inborn errors of immunity (IEI) are defined as genetic disorders affecting the immune system and resulting in diverse clinical signs and symptoms. Despite the lack of diagnosis and unavailability of IEI estimation in the Pakistani population, consanguinity is exacerbating its prevalence. The current study focuses on severe combined immunodeficiency (SCID) and leukocyte adhesion deficiency type 1 (LAD1). SCID is associated with the life-threatening symptoms developing at post-birth. LAD1 is clinically characterized by recurrent bacterial infections related to the skin, mouth, and respiratory tract owing to impaired leukocytes. Herein, in six consanguineous families, flow cytometry was used to evaluate the patient's immune status. Whole-exome sequencing (WES) was then conducted to search for the causative variations in immunodeficiency genes. Sanger sequencing was used to assess the segregation of the variants with the disorder within the families. Sequence analysis revealed five homozygous variants in four different causative genes. This included four novel nonsense variants in CD70 p.(Thr126Profs*33), CD3e p.(Trp151*), IL7R p.(Val138Ilefs*10), and ITGB2 p.(Ser627Valfs*61), and one previously reported in ITGB2 p.(Cys62*). In one of the families, two variants in two different genes, including DNAH6 p.(Tyr2653His) and NIPAL4 p.(Gly121Ser), were detected in an unclassified patient. All the identified variants were found in a homozygous state in the patient but in a heterozygous state in the available parents. The study will facilitate the diagnosis and management of IEI patients., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Plasmodium falciparum apical membrane antigen-1 (PfAMA-1) is a major candidate for the blood-stage malaria vaccine. Genetic polymorphisms of global pfama-1suggest that the genetic diversity of the gene can disturb effective vaccine development targeting this antigen. This study was conducted to explore the genetic diversity and gene structure of pfama-1 among P. falciparum isolates collected in the Khyber Pakhtunkhwa (KP) province of Pakistan. A total of 19 full-length pfama-1 sequences were obtained from KP-Pakistan P. falciparum isolates, and genetic polymorphism and natural selection were investigated. KP-Pakistan pfama-1 exhibited genetic diversity, wherein 58 amino acid changes were identified, most of which were located in ectodomains, and domains I, II, and III. The amino acid changes commonly found in the ectodomain of global pfama-1 were also detected in KP-Pakistan pfama-1. Interestingly, 13 novel amino acid changes not reported in the global population were identified in KP-Pakistan pfama-1. KP-Pakistan pfama-1 shared similar levels of genetic diversity with global pfama-1. Evidence of natural selection and recombination events were also detected in KP-Pakistan pfama-1.

Mastitis is considered one of the most widespread infectious disease of cattle and buffaloes, affecting dairy herds. The current study aimed to characterize the Staphylococcus aureus isolates recovered from subclinical mastitis animals in Pothohar region of the country. A total of 278 milk samples from 17 different dairy farms around two districts of the Pothohar region, Islamabad and Rawalpindi, were collected and screened for sub clinical mastitis using California Mastitis Test. Positive milk samples were processed for isolation of Staphylococcus aureus using mannitol salt agar. The recovered isolates were analyzed for their antimicrobial susceptibility and virulence genes using disc diffusion and PCR respectively. 62.2% samples were positive for subclinical mastitis and in total 70 Staphylococcus aureus isolates were recovered. 21% of these isolates were determined to be methicillin resistant, carrying the mecA gene. S. aureus isolates recovered during the study were resistant to all first line therapeutic antibiotics and in total 52% isolates were multidrug resistant. SCCmec typing revealed MRSA SCCmec types IV and V, indicating potential community-acquired MRSA (CA-MRSA) transmission. Virulence profiling revealed high prevalence of key genes associated with adhesion, toxin production, and immune evasion, such as hla, hlb, clfA, clfB and cap5. Furthermore, the Panton-Valentine leukocidin (PVL) toxin, that is often associated with recurrent skin and soft tissue infections, was present in 5.7% of isolates. In conclusion, the increased prevalence of MRSA in bovine mastitis is highlighted by this study, which also reveals a variety of virulence factors in S. aureus and emphasizes the significance of appropriate antibiotic therapy in combating this economically burdensome disease., (© 2024. The Author(s).)

Background: Apolipoprotein E (APOE) gene polymorphism has been implicated in the pathogenesis of various metabolic disorders, including type 2 diabetes mellitus (T2DM). Type 2 diabetes mellitus (T2DM) is a major public health concern worldwide, including in Pakistan. Cardiovascular problems linked with T2DM have a significant impact on individuals and society. The goal of this study is to investigate the relationship between Apolipoprotein E (ApoE) genotypes, dyslipidemia, and cardiovascular complications such as ischemic heart disease (IHD) and stroke. Methods: This study was carried out on 260 subjects divided into controls and diabetics. The diabetics were further divided into four subgroups such as D1: diabetics without cardiovascular issues, D2: diabetics with heart disease, D3: diabetics with stroke, and D4: diabetics with both heart disease and stroke. Anthropometric parameters (age, BMI) and risk factors (smoking, diabetes duration, hypertension) were assessed in all groups. Serum levels of TC, TG, LDL, HDL, VLDL, creatinine, BSF, and HbA1c were also measured. Apolipoprotein E gene polymorphism was determined using PCR-RFLP. Results: Hypertension, BMI, and dyslipidemia are defined as elevated levels of total cholesterol, triglycerides, LDL, and VLDL, and decreased levels of HDL. Uncontrolled hyperglycemia (elevated fasting blood sugar and glycated hemoglobin) in T2DM was linked to vascular complications such as IHD and stroke. Hypertension was prevalent in 79.3% of the population. Stage 2 hypertension was more prevalent in all age groups. It was also noted that common genotypes in the Pakistani population are 3/3, 4/4, 2/3, and 3/4. The frequency of genotypes 3/4 and 2/3 is highest in diabetics with stroke. Genotype 3/3 is present frequently in diabetics with IHD/stroke and patients with both these complications. However, genotype 4/4 is most frequently found in diabetics with IHD. Conclusions: It is concluded that BMI, hypertension, hyperglycemia, atherosclerosis, and dyslipidemia are linked with cardiovascular complications of type 2 diabetes. Apolipoprotein E gene polymorphism is associated with cardiovascular disease in patients with diabetes by affecting the lipid profile.

Background: Epilepsy, a challenging neurological condition, is often present with comorbidities that significantly impact diagnosis and management. In the Pakistani population, where financial limitations and geographical challenges hinder access to advanced diagnostic methods, understanding the genetic underpinnings of epilepsy and its associated conditions becomes crucial., Methods: This study investigated four distinct Pakistani families, each presenting with epilepsy and a spectrum of comorbidities, using a combination of whole exome sequencing (WES) and Sanger sequencing. The epileptic patients were prescribed multiple antiseizure medications (ASMs), yet their seizures persist, indicating the challenging nature of ASM-resistant epilepsy., Results: Identified genetic variants contributed to a diverse range of clinical phenotypes. In the family 1, which presented with epilepsy, developmental delay (DD), sleep disturbance, and aggressive behavior, a homozygous splice site variant, c.1339-6 C > T, in the COL18A1 gene was detected. The family 2 exhibited epilepsy, intellectual disability (ID), DD, and anxiety phenotypes, a homozygous missense variant, c.344T > A (p. Val115Glu), in the UFSP2 gene was identified. In family 3, which displayed epilepsy, ataxia, ID, DD, and speech impediment, a novel homozygous frameshift variant, c.1926_1941del (p. Tyr643MetfsX2), in the ZFYVE26 gene was found. Lastly, family 4 was presented with epilepsy, ID, DD, deafness, drooling, speech impediment, hypotonia, and a weak cry. A homozygous missense variant, c.1208 C > A (p. Ala403Glu), in the ATP13A2 gene was identified., Conclusion: This study highlights the genetic heterogeneity in ASM-resistant epilepsy and comorbidities among Pakistani families, emphasizing the importance of genotype-phenotype correlation and the necessity for expanded genetic testing in complex clinical cases., (© 2024. The Author(s).)

Radiology has become a fundamental constituent of the modern medicine. However, it has been observed that medical students in Pakistan often lack sufficient guidance and education in this field. This study aims to establish whether Pakistani medical students possess the requisite basic knowledge required in radiology and their attitude and perception toward radiology as a potential career path. This cross-sectional study conducted a survey among 530 medical students of Pakistan via a self-reported online questionnaire from August 01, 2021 to September 01, 2021. The data collected were analyzed using the SPSS software, along with logistic regression analyses to identify factors associated with interest in pursuing radiology as a career and possessing a comprehensive understanding of radiology among medical students. Of the 530 participants, 44.2% rated their understanding of radiology as "poor" with only 17% indicating interest to pursue a career in radiology. Logistic regression model showed significantly higher odds of radiology as a career among males (Crude odds ratio [COR] = 1.78, 95% confidence interval [CI] = 1.17-2.72, P = .007), medical students of Punjab (COR = 1.55, 95% CI = 1.01-2.40, P = .048), and those, who self-reported their knowledge of radiology as excellent (COR = 14.35, 95% CI = 5.13-40.12, P < .001). In contrast, medical students from Punjab (COR = 0.504, 95% CI = 0.344-0.737, P < .001) and second-year medical students (COR = 0.046, 95% CI = 0.019-0.107, P < .001) had lower odds of good knowledge. Our study suggests that the medical student's knowledge of radiology is deficient. Thus, it is advised that radiological societies work with medical school boards to integrate thorough and early radiology exposure into the undergraduate curriculum., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)

Background: CCHFV is well recognized as a major public health threat and its prevalence and epidemiological distribution in Pakistan and specifically in KP province is not well documented., Methods: We used a gold-standard PCR-based diagnostic assay for confirmation of CCHFV among suspected patients. A total of 150 patients were enrolled from June 2022 to September 2022 and their blood samples were collected for PCR confirmation., Results: The overall positivity rate for CCHFV was 26.67 %, with the virus mostly prevalent in the middle-aged group (21-40 years). In the July of 2022, a significant spike in the prevalence of CCHFV was observed in provincial capital Peshawar with the highest burden (31.57 %)., Conclusion: Our findings indicate the necessity of strengthening CCHFV monitoring programs and intensifying efforts to identify hotspot regions for effective surveillance and control of CCHFV. The months before the Eid-ul-Adha are crucial in the context of CCHFV control., Competing Interests: Declaration of competing interest The authors declare no conflict of interests., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Objective: The aim of this study is to assess the feasibility and implementation of a novel approach for intraoperative brain smears within the operating room, which is augmented with deep learning technology., Materials and Methods: This study is designed as an observational to evaluate the feasibility and implementation of using an innovative approach to intraoperative brain smears within the operating room, augmented with deep learning technology. The study will be conducted at Aga Khan University Hospital in Karachi, Pakistan, from May 2024 to July 2026, with an estimated sample size of 258. A neurosurgical trainee, trained by the study neuropathologist, will prepare and examine the smears under a microscope in the operating room. The findings of the trainee will be documented and compared to routine intraoperative consultations (smear and/or frozen section) and final histopathology results obtained from the pathology department. Additionally, the study will incorporate artificial intelligence tools to assist with the interpretation of smear and a telepathology interface to enable consultation from an off-site neuropathologist., Conclusions: The results of this study will hold significant potential to revolutionise neurosurgery practices in lowand middle-income countries by introducing a cost-effective, efficient, and high-quality intraoperative consultation method to settings that currently lack the necessary infrastructure and expertise. The implementation of this innovative approach has the potential to improve patient outcomes and increase access to intraoperative diagnosis, thereby addressing a significant unmet need in LMICs.

The current study investigated wild plant resources and health risk assessment along with northern Pakistan's mafic and ultramafic regions. Ethnobotanical data was collected through field visits and semi-structured questionnaire surveys conducted from local inhabitants and healers. Six potentially toxic elements (PTEs) such as lead (Pb), cadmium (Cd), nickel (Ni), chromium (Cr), manganese (Mn), and zinc (Zn) were extracted with acids and analyzed using atomic absorption spectrophotometer (AAS, Perkin Elmer-7000) in nine selected wild medicinal plants. Contamination factor (CF), pollution load index (PLI), estimated daily intake (EDI), target hazard quotient (THQ), and hazard index (HI) were used to determine the health risk assessment of the studied medicinal plants. The results showed that the selected medicinal plants were used for the treatments of cough, joint swelling, cardiovascular disorders, toothaches, diabetes, and skin pimples by the local inhabitants due to their low-cost and easy accessibility. The concentrations of Pb (3.4-53 mg kg -1 ), Cd (0.03-0.39 mg kg -1 ), Ni (17.5-82 mg kg -1 ), Cr (29-315 mg kg -1 ), Mn (20-142 mg kg -1 ), and Zn (7.4-64 mg kg -1 ) in the studied medicinal plants were found above the safe limits (except Zn) set by WHO/FAO/USEPA (1984/2010). The Pb contamination factor was significantly (p < 0.05) higher in A. modesta (7.84) and D. viscosa (6.81), and Cd contamination factor was significantly higher in C. officinalis (26.67), followed by A. modesta (8.0) mg kg -1 . Based on PTE concentrations, the studied plants are considered not suitable for human consumption purposes. Pollution load index values for A. modesta, A. barbadensis, A. caudatus, A. indica, C. procera (2.93), D. viscosa (2.79), and C. officinalis (2.83), R. hastatus (3.12), and Z. armatum were observed as 1.00, 2.80, 2.29, 2.29, 2.93, 2.79, 2.83, 3.12 and 2.19, respectively. Hazard index values were in order of R. hastatus (1.32 × 10 -1 ) ˃ C. procera (1.21 × 10 -1 ) ˃ D. viscosa (1.10 × 10 -1 ) ˃ A. caudatus (9.11 × 10 -2 ) ˃ A. barbadensis (8.66 × 10 -2 ) ˃ Z. armatum (7.99 × 10 -2 ) ˃ A. indica (6.87 × 10 -2 ) ˃ A. modesta (5.6 × 10 -2 ) ˃ C. officinalis (5.42 × 10 -2 ). The health risk index values suggested that consumption of these plants individually or in combination would cause severe health problems in the consumers. Pearson's correlation results showed a significant correlation (p ≤ 0.001) between Zn and Mn in the studied medicinal plants. The current study suggests that wild medicinal plants should be adequately addressed for PTEs and other carcinogenic pollutants before their uses in the study area. Open dumping of mining waste should be banned and eco-friendly technology like organic amendments application should be used to mitigate PTEs in the study area., (© 2024. The Author(s), under exclusive licence to Springer Nature Switzerland AG.)

Background: Severe Combined Immunodeficiency (SCID) is an autosomal recessive inborn error of immunity (IEI) characterized by recurrent chest and gastrointestinal (GI) infections and in some cases associated with life-threatening disorders., Methodology and Results: This current study aims to unwind the molecular etiology of SCID and also extended the patients' phenotype associated with identified particular variants. Herein, we present 06 disease-causing variants identified in 07 SCID-patients in three different SCID related genes. Whole Exome Sequencing (WES) followed by Sanger Sequencing was employed to explore genetic variations. The results included identification of two previously reported heterozygous variants in homozygous form for the first time in RAG1gene [(p.Arg410Gln);(p.Arg737His)], followed by a recurrent variant (p.Trp959*) in RAG1, a novel variant in IL2RG (p.Asp48Lfs*24), a recurrent variant in IL2RG (p.Gly271Glu) and a recurrent variant in DCLRE1C (p.Arg191*) gene., Conclusion: To conclude, the immune-profiling and WES revealed two novel, two as homozygous state for the first time, and two recurrent disease causing variants contributing valuably to our existing knowledge of SCID., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

A family of Pakistani origin, segregating polydactyly, and phalangeal synostosis in an autosomal dominant manner, has been investigated and presented in the present report. Whole-exome sequencing (WES), followed by segregation analysis using Sanger sequencing, revealed a heterozygous missense variant [c.G1696A, p.(Gly566Ser)] in the LRP4 gene located on human chromosome 11p11.2. Homology protein modeling revealed the mutant Ser566 generated new interactions with at least four other amino acids and disrupted protein folding and function. Our findings demonstrated the first direct evidence of involvement of LRP4 in causing polydactyly and phalangeal synostosis in the same family. This study highlighted the importance of inclusion of LRP4 gene in screening individuals presenting polydactyly in hands and feet, and phalangeal synostosis in the same family., (© 2023 Japanese Teratology Society.)

Background: Phubbing, a phenomenon of ignoring others in face-to-face conversations due to mobile phone use, can be assessed using a Phubbing Scale (PS). Recently, the PS has been shortened into an eight-item version, the PS-8. However, psychometric properties of the PS-8 among Iranian, Bangladeshi and Pakistani individuals remain understudied, especially using advanced psychometric testing, such as Rasch and network analyses., Methods: Participants residing in Iran, Bangladesh, and Pakistan (n = 1902; 50.4% females; mean age = 26.3 years) completed the PS-8 and the Internet Disorder Scale-Short Form (IDS9-SF) via an online survey. Network analysis was used to examine if PS-8 items were differentiated from IDS9-SF items; confirmatory factor analysis (CFA) was used to examine the factor structure and measurement invariance of the PS-8; Rasch modeling was used to examine the dimensionality of the PS-8 and differential item functioning (DIF)., Results: Network analysis showed that PS-8 items were clustered together with a distance to the IDS9-SF items. The CFA results supported a two-factor structure of the PS-8, and the two-factor structure was found to be invariant across countries and women and men. Rasch model results indicated that the two PS-8 subscales were both unidimensional and did not display DIF across countries and gender/sex., Conclusion: The PS-8 is a feasible and robust instrument for healthcare providers, especially mental health professionals, to quickly assess and evaluate individuals' phubbing behaviors., (© 2023. BioMed Central Ltd., part of Springer Nature.)

Background: Salmonella meningitis is a rare but serious complication of Salmonella infection, primarily affecting infants, children, and immunocompromised individuals., Case Presentation: We present a case of a two-and-a-half-year-old Asian boy who developed Salmonella meningitis along with pneumonia and respiratory failure. Initially, he experienced symptoms of loose motions, fever, and irritability, which progressed to neck stiffness and brisk reflexes. Cerebrospinal fluid (CSF) analysis confirmed Salmonella typhi in the CSF. Due to the worsening condition, the patient was admitted to the intensive care unit, intubated, and switched to meropenem as the antibiotic of choice after an initial empiric therapy with ceftriaxone and vancomycin. With appropriate treatment, the patient showed significant improvement, including resolution of fever and respiratory symptoms., Conclusion: Management of Salmonella meningitis is often challenging primarily because of the fact that the empiric therapy for meningitis may not always provide coverage to the multi-drug resistant Salmonella species found in South Asia. Prompt administration of appropriate antibiotics based on sensitivity testing is crucial for successful management. This case emphasizes the importance of early recognition and effective management of this uncommon yet severe complication of Salmonella infection., (© 2023. BioMed Central Ltd., part of Springer Nature.)

Sugarcane is the world's largest cultivated crop by biomass and is the main source of sugar and biofuel. Sucrose phosphate synthase (SPS) enzymes are directly involved in the synthesis of sucrose. Here, we analyzed and compared one of the important gene families involved in sucrose metabolism in a high and low sucrose sugarcane cultivar. A comprehensive in silico analysis of the SoSPS family displayed their phylogenetic relationship, gene and protein structure, miRNA targets, protein interaction network (PPI), gene ontology and collinearity. This was followed by a spatial expression analysis in two different sugarcane varieties. The phylogenetic reconstruction distributed AtSPS, ZmSPS, OsSPS, SoSPS and SbSPS into three main groups (A, B, C). The regulatory region of SoSPS genes carries ABRE , ARE , G-box, and MYC as the most dominant cis-regulatory elements. The PPI analysis predicted a total of 14 unique proteins interacting with SPS. The predominant expression of SPS in chloroplast clearly indicates that they are the most active in the organelle which is the hub of photosynthesis. Similarly, gene ontology attributed SPS to sucrose phosphate synthase and glucosyl transferase molecular functions, as well as sucrose biosynthetic and disaccharide biological processes. Overall, the expression of SPS in CPF252 (high sucrose variety) was higher in leaf and culm as compared to that of CPF 251 (low sucrose variety). In brief, this study adds to the present literature about sugarcane, sucrose metabolism and role of SPS in sucrose metabolism thereby opening up further avenues of research in crop improvement., Competing Interests: Jiban Shrestha is an Academic Editor for PeerJ., (©2023 Niazi et al.)

Sediments were considered a sink and potential source of heavy metals in the aquatic system. For this purpose, the present study examined surface sediments for spatial and temporal variation of heavy metals pollution and risk indices in the Gomal Zam Dam Basin (GZDB), Pakistan. Sediment samples (n = 20) were collected from the GZDB, i.e., Gomal Zam Dam, its inlets, and outlets in the winter and summer seasons of 2020, and examined for heavy metals such as zinc (Zn), nickel (Ni), manganese (Mn), lead (Pb), chromium (Cr), copper (Cu), iron (Fe), and cobalt (Co) concentrations. Among GZDB, results showed that the Zhob River Inlet had a higher levels of heavy metals in both seasons. The results revealed that pollution load index values were < 1, observing no pollution in the aquatic system. The risk indices values revealed that sampling sites showed no or very low risk during the summer, 84% of samples showed no or very low risk during the winter, and the rest noted with reasonable risks. Winter season showed higher average values of contamination and risk indices than summer. Statistical analyses revealed that the heavy metals contaminations were mainly due to geogenic sources of rock weathering and ore deposits, with minor contributions from anthropic activities. This study recommends regular monitoring of temporal studies on heavy metals contamination in the water of the GZDB., (© 2023. The Author(s), under exclusive licence to Springer Nature Switzerland AG.)

Background: Child mortality is a major challenge to public health in Pakistan and other developing countries. Reduction of the child mortality rate would improve public health and enhance human well-being and prosperity. This study recognizes the spatial clusters of child mortality across districts of Pakistan and identifies the direct and spatial spillover effects of determinants on the Child Mortality Rate (CMR)., Method: Data of the multiple indicators cluster survey (MICS) conducted by the United Nations International Children's Emergency Fund (UNICEF) was used to study the CMR. We used spatial univariate autocorrelation to test the spatial dependence between contiguous districts concerning CMR. We also applied the Spatial Durbin Model (SDM) to measure the spatial spillover effects of factors on CMR., Results: The study results showed 31% significant spatial association across the districts and identified a cluster of hot spots characterized by the high-high CMR in the districts of Punjab province. The empirical analysis of the SDM confirmed that the direct and spatial spillover effect of the poorest wealth quintile and MPI vulnerability on CMR is positive whereas access to postnatal care to the newly born child and improved drinking water has negatively (directly and indirectly) determined the CMR in Pakistan., Conclusion: The instant results concluded that spatial dependence and significant spatial spillover effects concerning CMR exist across districts. Prioritization of the hot spot districts characterized by higher CMR can significantly reduce the CMR with improvement in financial statuses of households from the poorest quintile and MPI vulnerability as well as improvement in accessibility to postnatal care services and safe drinking water., (© 2023. BioMed Central Ltd., part of Springer Nature.)

Typhoid fever, a common enteric disease in Pakistan, caused by Salmonella typhi , is becoming an extended drug-resistant organism and is preventable through the typhoid conjugate vaccine (TCV). Public adherence to preventive measures is influenced by knowledge and attitude toward the vaccine. This study investigates the knowledge, attitudes, and practices of the general population of Pakistan toward TCV. The differences in mean scores and factors associated with typhoid conjugate vaccine knowledge, attitudes, and practices were investigated. A total of 918 responses were received with a mean age of 25.9 ± 9.6, 51% were women, and 59.6% had graduation-level education. The majority of them responded that vaccines prevent illness (85.3%) and decrease mortality and disability (92.6%), and typhoid could be prevented by vaccination (86.7%). In total, 77.7 and 80.8% considered TCV safe and effective, respectively. Of 389 participants with children, 53.47% had vaccinated children, according to the extended program on immunization (EPI). Higher family income has a higher odds ratio (OR) for willingness toward booster dose of TCV [crude odds ratio (COR) = 4.920, p -value <0.01; adjusted odds ratio (aOR) = 2.853, value of p <0.001], and negative attitude regarding the protective effect of TCV has less willingness toward the booster dose with statistical significance (COR = 0.388, value of p  = 0.017; aOR = 0.198, value of p  = 0.011). The general population of Pakistan had a good level of knowledge about the benefits of TCV, and attitude and practices are in favor of the usage of TCV. However, a few religious misconceptions are prevalent in public requiring the efforts to overcome them to promote the usage of vaccines to prevent the disease and antibiotic resistance., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Tahir, Zaman, Saffi, Asghar, Tariq, Ahmed, Islam, Farooqui, Ullah, Saqlain, Ullah and Ahmed.)

Background: Warburg Micro (WARBM) syndrome is a rare heterogeneous recessive genetic disorder characterized by ocular, neurological, and endocrine problems. To date, disease-causing variants in four genes have been identified to cause this syndrome; of these, RAB3GAP1 variants are the most frequent. Very little is known about WARBM syndrome in rural populations., Objectives: This study aims to investigate the genetics underpinnings of WARBM syndrome in a Pashtun family with two patients from Pakistan. The patients presented with spastic diplegia, severe intellectual disability, microphthalmia, microcornea, congenital cataracts, optic atrophy, and hypogonadism., Methods: Magnetic resonance imaging (MRI) analysis revealed pronounced cerebral atrophy including corpus callosum hypoplasia and polymicrogyria. Exome sequencing and subsequent filtering identified a novel homozygous missense variant NM&#95;001172435: c.2891A>G, p.Gln964Arg in the RAB3GAP1 gene. The variant was validated, and its segregation confirmed, by Sanger sequencing., Results: Multiple prediction tools assess this variant to be damaging, and structural analysis of the protein shows that the mutant amino acid residue affects polar contact with the neighboring atoms. It is extremely rare and is absent in all the public databases. Taken together, these observations suggest that this variant underlies Micro syndrome in our family and is extremely important for management and family planning., Conclusions: Identification of this extremely rare variant extends the mutations spectrum of Micro syndrome. Screening more families, especially in underrepresented populations, will help unveil the mutation spectrum underlying this syndrome., (© 2023 International Society for Developmental Neuroscience.)

Introduction: Echinococcosis is a neglected tropical zoonotic infection that affects both the human and livestock populations. In Pakistan, the infection is long-standing, but data on its molecular epidemiology and genotypic characterization in the southern Punjab region are limited. The aim of the current study was the molecular characterization of human echinococcosis in southern Punjab, Pakistan., Methods: Echinococcal cysts were obtained from a total of 28 surgically treated patients. Patients' demographic characteristics were also recorded. The cyst samples were subjected to further processing to isolate DNA in order to probe the Nad1 and Cyt-b genes, followed by DNA sequencing and phylogenetic analysis for genotypic identification., Results: The majority of the echinococcal cysts were from male patients (60.7%). The liver was the most commonly infected organ (60.71%), followed by the lungs (25%), spleen (7.14%), and the mesentery (7.14%). Molecular and genotypic identification through sequencing and phylogenetic tree analysis showed that most of the cysts (24/28, 85.7%) were caused by the species Echinococcus granulosus sensu stricto ( E. granulosus s.s. ) (G1 and G3), followed by Echinococcus multilocularis ( E. multilocularis ) and Echinococcus canadensis ( E. canadensis ) (G6/G7) (3/28, 10.8%, and 1/28, 3.5%, respectively)., Conclusion: The current study concluded that the majority of human infections were caused by E. granulosus s.s. , followed by the E. multilocularis and E. canadensis species (G6/G7). Genotypic characterization among both human and livestock populations is needed to explore the genetic diversity of echinococcosis., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Basharat, Khan, Ullah, Shah and Ali.)

This paper examines the financial and social efficiency of the microcredit programs offered by the Pakistan Poverty Alleviation Fund partner organizations. Panel data concerning variables of interest are collected from Pakistan Microfinance Network, covering a minimum of 14 partner organizations (in 2005) to a maximum of 35 partner organizations (in 2014). The data is analyzed using the Data Envelopment Analysis, assuming both constant and variable returns to scale scenarios and the operational scale of the partner organizations. Trends in average efficiency scores have been analyzed to assess the mission drift of the partner organizations. Results reveal that managerial inefficiency is more pronounced than the sub-optimal production scale in all three scenarios under consideration. Moreover, trends in the efficiency scores indicated a slight mission drift of the microfinance providers. About 77.5% of the partner organizations were financially sustainable over the entire study period. The study recommends providing objective-oriented training, workshops, and seminars for managing microfinance providers., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2023 Ali et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Background: Retinitis pigmentosa (RP) is one of the most frequent hereditary retinal diseases that often starts with night blindness and eventually leads to legal blindness. Our study aimed to identify the underlying genetic cause of autosomal recessive retinitis pigmentosa (arRP) in a consanguineous Pakistani family., Methods: Following a detailed ophthalmological examination of the patients by an ophthalmologist, whole-exome sequencing was performed on the proband's DNA to delineate the genetic cause of RP in the family. In-depth computational methods, in-silico analysis, and familial co-segregation study were performed for variant detection and validation., Results: We studied an inbred Pakistani family with two siblings affected by retinitis pigmentosa. The proband, a 32 years old female, was clinically diagnosed with RP at the age of 6 years. A classical night blindness symptom was reported in the proband since her early childhood. OCT report showed a major reduction in the outer nuclear layer and the ellipsoid zone width, leading to the progression of the disease. Exome sequencing revealed a novel homozygous missense mutation (c.938C > T;p.Thr313Ile) in exon 12 of the PDE6B gene. The mutation p.Thr313Ile co-segregated with RP phenotype in the family. The altered residue (p.Thr313) was super conserved evolutionarily across different vertebrate species, and all available in silico tools classified the mutation as highly pathogenic., Conclusion: We present a novel homozygous pathogenic mutation in the PDE6B gene as the underlying cause of arRP in a consanguineous Pakistani family. Our findings highlight the importance of missense mutations in the PDE6B gene and expand the known mutational repertoire of PDE6B-related RP., (© 2023. The Author(s).)

Autism spectrum disorder (ASD) refers to various neurodevelopmental disabilities generally seen in kids. Pakistan, being vulnerable to natural disasters, faced one of the most devastating floods in July 2022 due to which many individuals were displaced. This not only affected the mental health of growing children but also the developing fetus of migrant mothers. This report establishes the link between the aftereffects of migration due to floods on children particularly associated with ASD in Pakistan. Flood affected families are devoid of basic necessities and are under a lot of psychological stress. On the other hand, Extensive treatment for autism is complicated, expensive, and provided in proper settings only which is not easily accessible to migrants. Considering all these factors, there are chances that ASD will be more prevalent in future generations of these migrants. Our study calls on respective authorities to take timely action for this growing concern., (Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc.)

The frequency of acute kidney injury (AKI) in COVID-19 patients can be varied and related to worse outcomes in the disease population. AKI is common among hospitalized patients with COVID-19, particularly the ones needing critical care. This study was conducted in order to determine the outcomes of hospitalized patients with prolonged hospital stays who suffered from COVID-19 associated AKI. It was conducted as a multi-centered, retrospective, cohort study, and including all patients who were diagnosed on COVID-19 PCR. End-stage renal disease patients on hemodialysis were excluded. The cohort included 1069 patients, with 68% males, mean age of 56.21 years, and majority within 50 to 75 years age group (60%). Mean disease onset was 14.43 ± 7.44 days and hospital stay was 7.01 ± 5.78 days. About 62% of patients stayed in intensive care and 18% of them were on invasive ventilation. The mortality rate was 27%. Frequency of AKI was 42%, around 14% of them were resolving during hospital stay and other 28% worsened. The mortality rate was significantly higher with AKI (OR: 4.7, P < .001). Alongside AKI, concomitant liver dysfunction was also significantly contributing to mortality (OR: 2.5), apart from ICU stay (OR: 2.9), invasive ventilation (OR: 9.2), and renal replacement therapy (OR: 2.4). Certain laboratory markers were associated with AKI throughout in-hospital stay., Competing Interests: The authors have no funding and conflicts of interest to disclose., (Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.)

Background: Human Adenovirus (HAdV) is one of the most common causes of infection in children. HAdV commonly affects respiratory system, however can also involve other parts of the body like nervous system, eyes and urinary tract. The virus usually causes a mild infection of the lower and upper respiratory tract. Objective of the study was to find the prevalence of HAdV in paediatric patients presenting with Influenza like symptoms and severe acute respiratory illness across Pakistan., Methods: This cross-sectional study was conducted at the National Institute of Health, Islamabad. Respiratory swabs were collected from 389 children with age less than five years from 14 hospitals in different regions of Pakistan from October 1, 2017 to September 30, 2018. Patients' demographics, signs and symptoms were recorded through a predesigned proforma while Real-time polymerase chain reaction (RT-PCR) was performed for respiratory samples., Results: Out of all 389 samples, HAdV was found in 25 (6.4%) cases. The proportion of HAdV obtained was greater in females 18 (4.6%) than male 7 (1.8%). The influenza-like illness in children attending outpatient department had a higher prevalence of HAdV 13 (3.3%) compared to admitted children 12 (3.1%). Similarly, patients from one to 6 months of age had higher positive outcome than older children. Majority of positive patients were from Islamabad (2.0%) followed by Gilgit (1.8%), Azad Jammu Kashmir (1.0%), Multan (0.5%), and Karachi (0.5%). The most frequent signs and symptoms were cough, fever, sore throat, nasal congestion and shortness of breath., Conclusions: The present study concludes that HAdV infection is common in Pakistan especially in female patients aged 1-6 months. It's crucial to improve the diagnosis of HAdV infections in our country to prevent complications associated with the virus. Furthermore, genetic analysis may help find different genotypes of HAdV circulating in Pakistan.

Background: Telemedicine is the provision of healthcare services through information and communication technology with the potential to mobilize all facets of the health sector to prevent the spread of COVID-19, provide quality healthcare, protect patients, doctors, and the public from exposure to disease, and reduce the burden on the healthcare system. This study aims to identify knowledge, perceptions, willingness to use, and the impact of the COVID-19 pandemic on telemedicine awareness., Methods: A cross-sectional study was conducted from 27 May 2020 to 17 June 2020 using the convenient sampling technique in the general population of Pakistan. Data were collected by designing an online questionnaire consisting of demographic information, knowledge, attitude perceptions, barriers, utilization, and the impact of the COVID-19 pandemic on telemedicine., Results: Of the 602 participants included in the study, 70.1% had heard about telemedicine, 54.3% had a good understanding of the definition of "telemedicine," 81.4% had not used telemedicine in the past, 29.9% did not know that telemedicine was available before the COVID-19 pandemic, and 70.4% responded that the COVID-19 pandemic had changed their attitudes toward telemedicine. Gender ( p = 0.017) and family income ( p = 0.027) had a significant association with the perception of the benefits of telemedicine., Conclusion: The knowledge and usage of telemedicine are lacking due to inadequate awareness and technology. The need of the hour is to maximize the application of telemedicine to overcome the deficiencies of the healthcare system. Hence, it is essential to increase awareness through various means and develop an appropriate infrastructure to attain maximum benefits from telehealth services., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Tariq, Asar, Tahir, Ullah, Ahmad, Raza, Qureshi, Ahmed, Sarwar, Ameer, Ullah, Siddiqi and Asghar.)

Background and Objectives : Hereditary multiple exostoses (HME) is a disease characterized by cartilage-capped bony protuberances at the site of growth plates of long bones. Functional mutations in the exostosin genes ( EXT1 and EXT2 ) are reported to affect the hedgehog signalling pathways leading to multiple enchondromatosis. However, the exact role of each EXT protein in the regulation of heparan sulphate (HS) chain elongation is still an enigma. In this study, a Pakistani family with HME is investigated to find out the genetic basis of the disease. Materials and Methods : Genotyping of eight members of the family by amplifying microsatellite markers, tightly linked to the EXT1 and EXT2 genes. Results : The study revealed linkage of the HME family to the EXT1 locus 8q24.1. Sanger sequencing identified a heterozygous deletion ( c.247Cdel ) in exon 1 of EXT1 , segregating with the disease phenotype in the family. In silico analysis predicted a shift in the frame causing an early stop codon (p.R83GfsX52). The predicted dwarf protein constituting 134 amino acids was functionally aberrant with a complete loss of the catalytic domain at the C-terminus. Interestingly, an alternative open reading frame 3 (ORF3) caused by the frame shift is predicted to encode a protein sequence, identical to the wild type and containing the catalytic domain, but lacking the first 100 amino acids of the wild-type EXT1 protein. Conclusion : Consequently, haploinsufficiency could be the cause of HME in the investigated family as the mutated copy of EXT1 is ineffective for EXT-1/2 complex formation. The predicted ORF3 protein could be of great significance in understanding several aspects of HME pathogenesis.

Background: Crimean-Congo hemorrhagic fever (CCHF) continues to pose a serious threat to the fragile healthcare system of Pakistan with a continuous increase of morbidity and mortality. The present study aimed to assess the knowledge, attitudes, and practices regarding CCHF among general people who resided in Pakistan., Methods: An online cross-sectional survey design was applied, and a convenience sampling technique was used to recruit 1039 adult people from Pakistan. Data were collected from September 08 to October 12, 2021. The questionnaire consisted of a total of 32 questions in four parts assessing socio-demographics, as well as knowledge, attitudes, and practices regarding CCHF. All statistical analyses were performed using the Statistical Package for the Social Sciences (SPSS), and logistic regression analyses were performed to determine the factors associated with good knowledge, positive attitudes, and good practices., Results: Alarmingly, 51.5% of participants heard about CCHF infection before administering the survey. Among these, 20.2%, 33.3%, and 48.2% of the study participants had demonstrated good knowledge, positive attitudes, and good practices, respectively. Binary logistic regression analysis revealed that education and income status had a significant impact on knowledge and attitudes (p<0.05). Similarly, the mean attitude scores differed significantly by age, education, and income status (p<0.05)., Conclusions: The findings reflected inadequate levels of knowledge, attitudes, and practices regarding CCHF among general people in Pakistan which may regard as lower than expected. As CCHF is a highly contagious disease, it's urgent to initiate a comprehensive approach to handle the situation before it spreads further in Pakistan., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2022 Jamil et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Over the last decades, liver transplantation (LT) has evolved into a life-saving procedure. Due to limited deceased donor activities in the eastern world, living donor liver transplantation (LDLT) had flourished tremendously in most Asian countries. Yet, these LDLT activities fall short of meeting the expected demands. Pakistan, a developing country, bears a major burden of liver diseases. Currently, only few centers offer LDLT services in the country. On the other hand, deceased donor liver transplantation (DDLT) activities have not started due to social, cultural, and religious beliefs. Various strategies can be adopted successfully to overcome the scarcity of live liver donors (LLDs) and to expand the donor pool, keeping in view donor safety and recipient outcome. These include consideration of LLDs with underlying clinical conditions like G6PD deficiency and Hepatitis B core positivity. Extended donor criteria can also be utilized and relaxation can be made in various donors' parameters including upper age and body mass index after approval from the multidisciplinary board. Also, left lobe grafts, grafts with various anatomical variations, and a low graft-to-recipient ratio can be considered in appropriate situations. ABO-incompatible LT and donor swapping at times may help in expanding the LLDs pool. Similarly, legislation is needed to allow live non-blood-related donors for organ donations. Finally, community education and awareness through various social media flat forms are needed to promote deceased organ donation., (Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.)