Patients with undiagnosed haemostatic defects seen at The Aga Khan Hospital and Fatimid Blood Transfusion Centre during the period of 7 years (1985-1992) were screened with routine tests including bleeding time (BT), whole blood clotting time (CT), platelet count, activated partial thromboplastin time (APTT), prothrombin time (PT) and 5 molar urea test. Nine patients had a positive 5 molar urea test indicating factor XIII deficiency. Rest of the screening tests were normal in these patients. High incidence of consanguinity was observed in affected families. Clinical features included excessive bleeding from umbilical stump, bruising, post-traumatic bleeding, epistaxis, melaena and intracerebral bleeding. All the patients were treated with fresh frozen plasma and cryoprecipitate.

During 5 months in 2004-2005, buffalopoxvirus infection, confirmed by virus isolation and limited nucleic acid sequencing, spread between 5 burns units in Karachi, Pakistan. The outbreak was related to movement of patients between units. Control measures reduced transmission, but sporadic cases continued due to the admission of new patients with community-acquired infections.

Frequency of extensively drug-resistant tuberculosis in Pakistan increased from 1.5% in 2006 to 4.5% in 2009 (p<0.01). To understand the epidemiology, we genotyped selected strains by using spoligotyping, mycobacterial interspersed repetitive units-variable number of tandem repeats, and IS6110 restriction fragment length polymorphism analysis.

No abstract available

Most of the global non-communicable disease (NCD)-related death burden is borne by low and middle-income countries (LMICs). In LMICs like Pakistan, however, a major gap in responding to NCDs is a lack of high-quality research leading to policy development and implementation of NCDs. To assess institutional opportunities and constraints to NCD research and training we conducted a situational analysis for NCD research and training at Aga Khan University Pakistan.

Eighteen binary polymorphisms and 16 multiallelic, short-tandem-repeat (STR) loci from the nonrecombining portion of the human Y chromosome were typed in 718 male subjects belonging to 12 ethnic groups of Pakistan. These identified 11 stable haplogroups and 503 combination binary marker/STR haplotypes. Haplogroup frequencies were generally similar to those in neighboring geographical areas, and the Pakistani populations speaking a language isolate (the Burushos), a Dravidian language (the Brahui), or a Sino-Tibetan language (the Balti) resembled the Indo-European-speaking majority. Nevertheless, median-joining networks of haplotypes revealed considerable substructuring of Y variation within Pakistan, with many populations showing distinct clusters of haplotypes. These patterns can be accounted for by a common pool of Y lineages, with substantial isolation between populations and drift in the smaller ones. Few comparative genetic or historical data are available for most populations, but the results can be compared with oral traditions about origins. The Y data support the well-established origin of the Parsis in Iran, the suggested descent of the Hazaras from Genghis Khan's army, and the origin of the Negroid Makrani in Africa, but do not support traditions of Tibetan, Syrian, Greek, or Jewish origins for other populations.

Ethnoveterinary medicine is crucial in many rural areas of the world since people living in remote and marginal areas rely significantly on traditional herbal therapies to treat their domestic animals. In Pakistan, communities residing in remote areas, and especially those still attached to pastoralist traditions, have considerable ethnoveterinary herbal knowledge and they sometimes use this knowledge for treating their animals. The main aim of the study was to review the literature about ethnoveterinary herbals being used in Pakistan in order to articulate potential applications in modern veterinary medicine. Moreover, the review aimed to analyze possible cross-cultural and cross regional differences.

Smoking remains a major player in morbidity and mortality worldwide. It is a matter of immense public health importance as single leading cause of preventable deaths. The aim of this study was to assess smoking practices that prevail across Pakistan & Attitude of people towards this issue. We conducted an extensive search on major databases as well as search of bibliography of published literature for studies assessing Attitudes and Practices of tobacco smoking that prevail across Pakistan. Data from available studies was abstracted and utilized in preparation of this manuscript. After screening of 613 articles, we were able to identify 22 studies matching our criteria for inclusion. Majority of studies reported adolescence as time of initiation. Average national prevalence was 21.6%. A significant portion of smokers comprised of females. The prevalence of smoking in healthcare professionals ranged from 32 - 37%. Passive smoking was a major contributor of tobacco exposure. Prevalence of 'Shisha' use was 33%. Smoking continues to be a major Public Health issue in Pakistan. The prevalence in healthcare professionals and adolescents is alarming. Adequate measures need to be taken to ensure its control.

During December 2016-May 2017, an outbreak of chikungunya virus infection occurred across Pakistan. The East/Central/South African genotype was predominant. This study provides baseline data on the virus strain and emphasizes the need for active surveillance and implementation of preventive interventions to contain future outbreaks.

COVID-19 has swept globally and Pakistan is no exception. To investigate the initial introductions and transmissions of the SARS-CoV-2 in Pakistan, we performed the largest genomic epidemiology study of COVID-19 in Pakistan and generated 150 complete SARS-CoV-2 genome sequences from samples collected from March 16 to June 1, 2020. We identified a total of 347 mutated positions, 31 of which were over-represented in Pakistan. Meanwhile, we found over 1000 intra-host single-nucleotide variants (iSNVs). Several of them occurred concurrently, indicating possible interactions among them or coevolution. Some of the high-frequency iSNVs in Pakistan were not observed in the global population, suggesting strong purifying selections. The genomic epidemiology revealed five distinctive spreading clusters. The largest cluster consisted of 74 viruses which were derived from different geographic locations of Pakistan and formed a deep hierarchical structure, indicating an extensive and persistent nation-wide transmission of the virus that was probably attributed to a signature mutation (G8371T in ORF1ab) of this cluster. Furthermore, 28 putative international introductions were identified, several of which are consistent with the epidemiological investigations. In all, this study has inferred the possible pathways of introductions and transmissions of SARS-CoV-2 in Pakistan, which could aid ongoing and future viral surveillance and COVID-19 control.

Immunization should be considered a basic human right to health and well-being. It is everybody's business, and it is everybody's responsibility: the individual, the community, the health system and the state. This paper attempts to review some of the literature that highlights the ethical and religious concerns surrounding polio vaccination and what approaches may be used to counter the problems faced in Pakistan.

The customary consanguineous nuptials in Pakistan underlie the frequent occurrence of autosomal recessive inherited disorders, including retinal dystrophy (RD). In many studies, homozygosity mapping has been shown to be successful in mapping susceptibility loci for autosomal recessive inherited disease. RDs are the most frequent cause of inherited blindness worldwide. To date there is no comprehensive genetic overview of different RDs in Pakistan. In this review, genetic data of syndromic and non-syndromic RD families from Pakistan has been collected. Out of the 132 genes known to be involved in non-syndromic RD, 35 different genes have been reported to be mutated in families of Pakistani origin. In the Pakistani RD families 90% of the mutations causing non-syndromic RD and all mutations causing syndromic forms of the disease have not been reported in other populations. Based on the current inventory of all Pakistani RD-associated gene defects, a cost-efficient allele-specific analysis of 11 RD-associated variants is proposed, which may capture up to 35% of the genetic causes of retinal dystrophy in Pakistan.

In order to investigate the current status of skin cancer research output in Pakistan, International (PubMed) and national (PakMediNet) scientific databases were searched using variety of keywords to retrieve relevant publications. A strict inclusion criterion was applied to select skin cancer publications for final analyses. Data were recorded by two authors and consistent data were entered into SPSS and Microsoft Excel and analyzed for annual growth rate and frequencies. Of 116 articles that were finally included in the study, 74 were original articles, 24 were case-reports, 10 were review articles, three were editorials, two were research communications and one each of case-series, correspondence and response to letter to the editor. The first article on skin cancer from Pakistan was published in 1976 whereas the last article included in our study was published in December 2018. Excluding Karachi, most of the cities have no contribution in the field of skin cancer. Since 1976 to date, the average number of publications per year has been low, with only 2.7 publications per year. Skin cancer research is alarmingly scarce in Pakistan. This calls for immediate attention by all concerned to contribute and devise appropriate measures towards skin cancer research in Pakistan.

Rotavirus A (RVA) is a significant cause of severe diarrheal illness and one of the common causes of death in children under the age of five. This study was aimed at detecting the prevalence of RVA in Pakistan after rotavirus vaccines were introduced. Fecal samples were obtained from 813 children from different hospitals in Rawalpindi and Islamabad, Pakistan, from January 2018 to December 2018. To obtain additional information from the parents / guardians of the children, a standard questionnaire was used.

The present research is the first comprehensive cross-sectional study of consumer satisfaction with community pharmacies in Sindh, Pakistan. Moreover, the study has also designed a nonorder theoretical model for consumer satisfaction with community pharmacies.

Despite tremendous progress, malaria remains a serious public health problem in Pakistan. Very few studies have been done on spatiotemporal evaluation of malaria infection in Pakistan. The study aimed to detect the spatiotemporal pattern of malaria infection at the district level in Pakistan, and to identify the clusters of high-risk disease areas in the country. Annual data on malaria for two dominant species (Plasmodium falciparum, Plasmodium vivax) and mixed infections from 2011 to 2016 were obtained from the Directorate of Malaria Control Program, Pakistan. Population data were collected from the Pakistan Bureau of Statistics. A geographical information system was used to display the spatial distribution of malaria at the district level throughout Pakistan. Purely spatiotemporal clustering analysis was performed to identify the high-risk areas of malaria infection in Pakistan. A total of 1,593,409 positive cases were included in this study over a period of 6 years (2011⁻2016). The maximum number of P. vivax cases (474,478) were reported in Khyber Pakhtunkhwa (KPK). The highest burden of P. falciparum (145,445) was in Balochistan, while the highest counts of mixed Plasmodium cases were reported in Sindh (22,421) and Balochistan (22,229), respectively. In Balochistan, incidence of all three types of malaria was very high. Cluster analysis showed that primary clusters of P. vivax malaria were in the same districts in 2014, 2015 and 2016 (total 24 districts, 12 in Federally Administered Tribal Areas (FATA), 9 in KPK, 2 in Punjab and 1 in Balochistan); those of P. falciparum malaria were unchanged in 2012 and 2013 (total 18 districts, all in Balochistan), and mixed infections remained the same in 2014 and 2015 (total 7 districts, 6 in Balochistan and 1 in FATA). This study indicated that the transmission cycles of malaria infection vary in different spatiotemporal settings in Pakistan. Efforts in controlling P. vivax malaria in particular need to be enhanced in high-risk areas. Based on these findings, further research is needed to investigate the impact of risk factors on transmission of malaria in Pakistan.

The Indus valley toad and common Asian toad are widely distributed toads in Pakistan. There is doubt in the taxonomic position of species within the genus Duttaphrynus in Pakistan as most of the species identified on morphology. Previously, Bufo melanostictus hazarensis identified on morphology but during the present study, it is confirmed as Duttaphrynus melanostictus-based COI sequences (MK941836). The interspecific divergence between Duttaphrynus stomaticus and D. melanostictus was 16%. The intraspecific divergence of D. stomaticus (MK947909.1) was ranging from 0% to 1% while the intraspecific divergence of D. melanostictus (MK941836) was high ranging from 10% to 11%. Overall, genetic variation between the species of genus Duttaphrynus based on p-distance was 14%. In our recommendation, a large-scale molecular identification of amphibians should take into consideration for exact species identification to report any new species from Pakistan.

Oral cancer is second most common cancer in Pakistan and one of the major contributing factors to its high incidence is smokeless tobacco (SLT) use. 5.3% of Pakistan's youth are current SLT users. The World Health Organization requires the signatories of its "Framework Convention on Tobacco Control" to officially ban the sale of tobacco products to minors. We reviewed the Government of Pakistan's tobacco control, and related supporting policies, to assess how these address the issue of sale of SLT products to minors and found evident gaps in this regard. Legislations need to be in place to ban the sale of SLT products to minors and avoid an SLT epidemic in the future.

This study contributes to the current ethnomedicinal knowledge of the Swat Valley, Pakistan. District Swat possesses remarkable biodiversity owing to its varied topographical and climatic conditions, prompting a distinct human-plant association. Our hypothesis is that the presence of such a great biodiversity has shaped into a formal ethnobotanical culture in the area transmitted through generations. We suspect that the versatility of some plant species has greater influence on the culture. Therefore, the prime objective of the study is to understand this unique human-plant relationship in the valley and to create scientific roots for the selection and practice of herbs in the ethnobotanical domain of the district.

Plant species of the Poaceae family are not only used as fodder and forage but also contribute substantially to the treatment of various health disorders, particularly in livestock. Consequently, the present study was aimed to document the therapeutic uses of Poaceae practiced by the inhabitants of the Punjab Province for the treatment of various veterinary health disorders. Semi structured interviews, group discussion and field walks were conducted to collect the data. Quantitative indices including cultural significance index (CSI), relative frequency of citations (RFC), fidelity level (FL), relative popularity level (RPL), and Jaccard Index (JI) were used for the data analysis. Traditional uses of 149 species belonging to 60 genera and 16 tribes of 5 sub families of Poaceae were recorded. Whole plants and leaves were the most consistently used parts with 40.94 and 29.53%. The plants were mainly given orally as fodder (59 reports) without processing followed by decoction (35 reports). Most of the species were employed to treat infectious diseases (25.93%), and digestive disorders (14.10%). Triticum aestivum had the highest CSI, RFC and RPL levels at 8.00, 0.96, 1.00, respectively, followed by Oryza sativa and Poa annua. Likewise, T. aestivum and Saccharum spontaneum had 100% FL and ROP. Jaccard index ranged from 12.25 to 0.37. Twelve plant species namely Chrysopogon zizanioides (anti-inflammatory), Pennisetum lanatum (improve bull fertility), Cymbopogon citratus (glandular secretion), Sorghum saccharatum and Themeda triandra (malaria), Aristida funiculate (anticancer), Koeleria argentia (skin allergies), Tetrapogon villosus (antibacterial), Cynodon radiatus (eyes infection), Sporobolus nervosa (Jaundice), Enneapogon persicus (antifungal), and Panicum repens (dysfunctional cattle organs) were reported for the first time, with novel ethnoveterinary uses. The inhabitants of the study area had a strong association with their surrounding plant diversity and possessed significant knowledge on therapeutic uses of Poaceae to treat various health disorders in animals. Plant species with maximum cultural and medicinal values could be a potential source of novel drugs to cure health disorders in animals and human as well.