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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.)

Congenital bilateral absence of vas deferens (CBAVD) is a urological syndrome of Wolffian ducts and is responsible for male infertility and obstructive azoospermia. This study is designed to explore the integrity of exon 10 of CFTR and its role in male infertility in a cohort of CBVAD patients in Pakistan. Genomic DNA was extracted from 17 male patients with CBAVD having clinical symptoms, and 10 healthy controls via phenol-chloroform method. Exon 10 of the CFTR gene was amplified, using PCR with specific primers and DNA screening was done by Sanger sequencing. Sequencing results were analyzed using freeware Serial Cloner, SnapGene, BioEdit and FinchTV. Furthermore, bioinformatics tools were used to analyze the mutations and their impact on the protein function and stability. We have identified 4 mutations on exon 10 of CFTR in 6 out of 17 patients. Two of the mutations were missense variants V456A, K464E, and the other two were silent mutations G437G, S431S. The identified variant V456A was present in 4 of the studied patients. Whereas, the presence of K464E in our patients further weighs on the crucial importance for its strategic location to influence the gene function at post-transcriptional and protein level. Furthermore, Polyphen-2 and SIFT analyze the mutations as harmful and deleterious. The recurrence of V456A and tactically conserved locality of K464E are evidence of their potential role in CBAVD patients and in male infertility. The data can contribute in developing genetic testing and treatment of CBAVD.

Objective: To describe a systematic process of transforming paper registers into a digital system optimized to enhance service provision and fulfil reporting requirements., Methods: We designed a formative study around primary health workers providing reproductive, maternal, newborn and child health services in three countries in Bangladesh, Indonesia and Pakistan. The study ran from November 2014 to June 2018. We developed a prototype digital application after conducting a needs assessment of health workers' responsibilities, workflows, routine data requirements and service delivery needs. Methods included desk reviews, focus group discussions, in-depth interviews; data mapping of paper registers; observations of health workers; co-design workshops with health workers; and usability testing. Finally, we conducted an observational feasibility assessment to monitor uptake of the application., Findings: Researchers reviewed a total of 17 paper registers across the sites, which we transformed into seven modules within a digital application running on mobile devices. Modules corresponded to the services provided, including household enumeration, antenatal care, family planning, immunization, nutrition and child health. A total of 65 health workers used the modules during the feasibility assessment, and average weekly form submissions ranged from 8 to 234, depending on the health worker and their responsibilities. We also observed variability in the use of modules, requiring consistent monitoring support for health workers., Conclusion: Lessons learnt from this study shaped key global initiatives and resulted in a software global good. The deployment of digital systems requires well-designed applications, change management and strengthening human resources to realize and sustain health system gains., ((c) 2022 The authors; licensee World Health Organization.)

During the present study thirteen Megaderma lyra bats were observed roosting in dark, domed shaped room of Rohtas Fort, district Jhelum. Out of these, six specimens were captured from the roosting site, using hand net. All captured specimens were male. These bats were identified through their unique facial features, an erect and elongated nose-leaf, large oval ears that joined above the forehead and no tail. Mean head and body length of captured specimens was 80 mm, forearm length was 67 mm while average lengths of 3rd, 4th and 5th metacarpals were 51.73 mm, 55.17 mm and 60.42 mm, respectively. Mean skull length was 29.84 mm, breadth of braincase was 12.77 mm. Average Penis length of two specimens was 6.6 mm and total bacular length was 3.08 mm respectively. This is the first record of Megaderma lyra from district Jhelum.

A new species of the genus Lutziella (Rohde, 1966) Yamaguti, 1971 is described here and named Lutziella swatensis sp.nov. from the liver of rat (Rattus rattus L.). The new species is characterized by having body flat, smooth, longer than broad with maximum width at the level of the ovary, oral sucker with weak musculature, pharynx small; eosophagus long; caeca of irregular shape which bifurcate on the anterior border of the ovary in to unequal portions, acetabulum weakly muscular, post-testicular, testes lobed, cirrus pouch somewhat median, small in size containing winding seminal vesicle, prostatic complex and short ejaculatory duct. Genital pore median. Ovary post testicular, submedian; seminal receptacle overlapping ovary, laurer's canal present. Vitellaria follicular extending on each side from almost the level of testes to anterior portion of posterior half of the body. Uterus filled with eggs occupying most of the body, eggs oval rather small, numerous, brownish in colour, excretory vesicle tubular with terminal pore. Lutziella swatensis n. sp. is the second species of the genus known from Pakistan as well as the second species described from murid rodents in the world.

Coccidiosis remains one of the major problems in poultry all over the world. Very limited data on anticoccidial drugs in wild pigeons is available. The current study was aimed to understand the comparative efficacy of sulfadimidine, amprolium and triquen in wild pigeons of Dir district, Pakistan suffering from coccidiosis. The faecal matter of wild pigeons were purchased from the local market for coccidian infection. Results revealed that 88.8% (16/18) were found infected with Eimeria spp. Three positive groups were treated with sulfadimidine (0.2mg/L), amprolium (25mg/L) and triquen. Sulfadimidine was most effective (45%) followed by amprolium (44.6%) while triquen (24.0%) showed less effectiveness against coccidiosis in pigeons. Number of oocysts were 79, 81 and 80 before treatment and 60, 44 and 44 after treatment with sulfadimidine, amprolium and triquen respectively. This study showed that sulphadimidine, amprolium and triquen could not significantly reduce the coccidiosis in pigeons. Further studies are required to clear the mechanism of anti-coccidial drugs in wild pigeons.

Data on environmental contamination of the parasites of zoonotic importance is scarce in Pakistan. Soil contamination with feces of dogs hide infective stages of the parasite represents a health-risk to humans. This study was aimed to assess the eggs of gastrointestinal parasites of stray dogs and household dogs in lower Dir district, Pakistan with special consideration to those that can be spread to humans. One hundred and fifty two stool specimens from (stray dogs=90 and household dogs=62) were collected. The helminth eggs were processed by direct smear method and centrifugation techniques and identified by microscopic examination. Of the total examined dogs 26.8% (n=41 /152) were found to be infected with one or more intestinal parasites. The intestinal helminths detected were Dipylidium caninum (n =18, 11.8%), followed by Toxocara canis (n =16, 10.5%), Taenia spp., (n=10, 6.57%) Ancylostoma caninum (n=6, 3.94), Toxascaris spp., Capillaria spp., and Trichuris vulpis (n=2, 1.31% each) in order of their prevalence. Pattern of infection revealed that 27 (65.8%) dogs have single, 13(31.7%) double and 1(2.43%) triple infection. The stray dogs were highly infected 34.4% (n=31) than house hold dogs 16.1% (n=10). The prevalence of infection with intestinal parasites was significantly different among these two groups (p = 0.0097). This study highlight a severe environmental contamination by frequent parasitic stages infectious to humans. There is a higher risk of zoonotic transmission from dogs which indicate an immediate need for the controlling of these parasites and educating the public to take wise action relating to the parasites and pets.

Altered DNA repair capacity may affect an individual's susceptibility to cancers due to compromised genomic integrity. This study was designed to elucidate the association of selected polymorphisms in DNA repair genes with urothelial bladder carcinoma (UBC). OGG1 rs1052133 and rs2304277, XRCC1 rs1799782 and rs25487, XRCC3 rs861539, XPC rs2228001, and XPD rs13181 were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 200 UBC cases and 200 controls. We found association of OGG1 rs2304277 [odds ratio (OR) GG = 3.55, 95% confidence interval (CI) = 1.79-7.06] and XPC rs2228001 (OR AC = 2.38, 95% CI = 1.43-3.94) with UBC. In stratified analysis with respect to smoking status, OGG1 rs2304277 and XPC rs2228001 exhibited increased risk in smokers [(rs2304277 OR GG = 4.96, 95% CI = 1.51-16.30) (rs2228001 OR AC = 2.19, 95% CI = 1.02-4.72)] as well as nonsmokers [(rs2304277 OR GG = 2.95, 95% CI = 1.26-6.90) (rs2228001 OR AC = 2.57, 95% CI = 1.31-5.04)]. These polymorphisms were also associated with both low-grade [(rs2304277 OR GG = 3.73, 95% CI = 1.72-8.09) (rs2228001 OR AC = 2.18, 95% CI = 1.21-3.92)] and high-grade tumors [(rs2304277 OR GG = 3.45, 95% CI = 1.52-7.80) (rs2228001 OR AC = 2.81, 95% CI = 1.48-5.33)] as well as with non-muscle-invasive bladder cancer [(rs2304277 OR GG = 4.03, 95% CI = 1.87-8.67) (rs2228001 OR AC = 2.14, 95% CI = 1.20-3.81)] and muscle-invasive bladder cancer [(rs2304277 OR GG = 3.06, 95%CI = 1.31-7.13) (rs2228001 OR AC = 2.95, 95%CI = 1.51-5.75)]. This is the first study on DNA repair gene polymorphisms and UBC in the Pakistani population. It identifies OGG1 rs2304277 and replicates XPC rs2228001 as significant modulators of UBC susceptibility., (© 2017 John Wiley & Sons Ltd/University College London.)

Urothelial bladder carcinoma (UBC) is the most common among urinary bladder neoplasms. We carried out a preliminary study to determine the genetic etiology of UBC in Pakistani population, for this 25 sequence variants from 17 candidate genes were studied in 400 individuals by using polymerase chain reaction-based techniques. Multivariate logistic regression analysis was performed for association analysis of the overall data as well as the data stratified by smoking status, tumor grade and tumor stage. Variants of GSTM1, IGFBP3, LEPR and ACE were found to be associated with altered UBC risk in the overall comparison. CYP1B1 and CDKN1A variants displayed a risk modulation among smokers; IGFBP3 and LEPR variants among non-smokers while GSTM1 polymorphism exhibited association with both. GSTM1 and LEPR variants conferred an altered susceptibility to low grade UBC; GSTT1, IGFBP3 and PPARG variants to high grade UBC while ACE polymorphism to both grades. GSTM1 and LEPR variants exhibited risk modulation for non-muscle-invasive bladder cancer (NMIBC); GSTT1 and PPARG variants for muscle-invasive bladder cancer (MIBC), and ACE variant for NMIBC as well as MIBC. In general, the susceptibility markers were common for low grade and NMIBC; and distinct from those for high grade and MIBC indicating the distinct pathologies of both groups. In brief, our results conform to reports of previously associated variants in addition to identifying novel potential genetic predictors of UBC susceptibility.

Background: In Pakistan, patients with symptoms suggestive of tuberculosis (TB) seek care from a wide array of health care providers, many of whom do not notify cases to the National TB Programme (NTP)., Setting: We evaluated an active case detection intervention in five randomly selected districts in urban slums of Sindh Province, Pakistan., Objective: To evaluate the increase in case notification of smear-positive TB by active case finding at community-based chest camps by engaging the private providers., Design: A cross-sectional study of TB case detection associated with a project using integrated intervention and chest camps., Results: From April 2011 to September 2012, the total number of clients seen in the camps was 165 280. Of all the attendees, 13 481 (12.7%) were examined by sputum smear microscopy. The proportion of smear-positive results was significantly higher among those from engaged private providers than among those referred from camps (OR 1.54, 95%CI 1.42-1.66). During the project, the total number of smear-positive TB notifications increased over the intervention period from 5158 to 8275., Conclusion: Active case detection by engaging private providers and chest camps can significantly increase the number of smear-positive TB case notifications.

Environmental toxicants invariably affect all biological organisms resulting to sufferings ranging from subclinical to debilitating clinical conditions. This novel research aimed to determine the toxic burdens of increased environmental elements in some vital organs/tissues of the wild animals (starling, owl, crow and pigeon), exposed to air polluted environment were assessed using particle induced X-ray emission and histopathological approaches. The presence of significantly elevated amounts of elemental toxicants namely: Aluminum (Al), Chlorine (Cl), Iron (Fe), Potassium (K), Magnesium (Mg), Manganese (Mn), Silicon (Si) and Vanadium (V) from the skin, muscle, lungs, liver and kidney of sampled animals were in concurrence with the observed histopathological changes. The skin of sampled starling, owl, pigeon and crow spotlighted highly significant increase (P < 0.001) in Al, Cl, Mg and Si. Muscle samples with myodegenerative lesions and mineral depositions highlighted substantial augmentation (P < 0.001) in the amount of Al, Fe, Mn, Si and V. The lungs of starling, owl, and pigeon were severely intoxicated (P < 0.001) with increased amount of Al, Fe, K, Mn and Si producing pulmonary lesions of congestion, edema, pneumonitis and mineral debris depositions. Liver samples revealed that the sampled animals were laden with Cl, Fe, Mg, Mn and V with histopathological profound degenerative changes and hepatic necrosis. Kidney sections presented severe tubular degenerative and necrotic changes that may be attributed to increased amounts of Cl and Fe. These current findings implied that the environmental/elemental toxicants and the accompanying lesions that were discerned in the organs/tissues of sampled birds may as well be afflicting people living within the polluted area. Further assessment to more conclusively demonstrate correlations of current findings to those of the populace within the area is encouraged.

Objective: To determine the types and grade of various renal injuries and methods adopted for their management at the Department of Urology, Pakistan Institute of Medical Sciences, Islamabad., Study Design: An observational study., Place and Duration of Study: Department of Urology, Pakistan Institute of Medical Sciences, Islamabad, from January 2005 to December 2007., Methodology: The study included 50 patients with both blunt and penetrating renal trauma of either gender and aged above 13 years. Injuries, grade management and outcome was recorded. The data was entered in structured proforma and analyzed for descriptive statistics using SPSS version 10., Results: Frequency was higher in males (82%). The mode of renal injury was blunt in 78% and penetrating in 22% cases. Blunt injuries were mostly due to road traffic accident (94.9%) and penetrating injuries due to firearm (63.6%). Hematuria was present in 86% and absent in 14% cases. Minor renal injury was seen in 74% and major injury in 26% cases. Seventy-two percent of cases were managed conservatively. All grade-V (14%) and one grade-1V injury (2%) patients underwent nephrectomy. Renorrhaphy was done in 6% cases. Urinary extravasation was seen in one case (2%). One patient developed renocolic fistula. No mortality was observed in non-operative group; however, 4% patients expired in operative group due to associated injuries., Conclusion: Blunt trauma accounts for majority of the cases of renal injury and non-operative treatment is the suitable method of management for most cases of blunt as well as selected cases of penetrating renal trauma, who are stable hemodynamically and without peritonitis.

Cone-rod retinal dystrophy (CORD) characteristically leads to early impairment of vision due to the simultaneous involvement of both cone and rod photoreceptor cells. Several loci/genes have been identified for CORD, including the cone-rod dystrophy (CORD8) locus [OMIM#605549] identified for a Pakistani family. All members of this family underwent detailed clinical re-examination to determine the nature of the dystrophy. All affected individuals suffered from bilateral CORD8 with an autosomal recessive mode of inheritance. The CORD8 locus, mapped on chromosome 1q12-q24, consisted of a very large critical disease region of 21 cM. Analysis with more recently available microsatellite markers within the reported region showed heterozygosity with some of the new markers, and the crossovers lead to a refinement of the disease region from 21 to 11.53 cM. Mutation screening has excluded some of the candidate genes in the region. The disease phenotype of this family could be due to a mutation in a novel gene located within the refined CORD8 locus.

There has been a recent concern among oncological clinicians and pathologists of our region regarding the disproportionate increase in the number of patients presenting with diffuse large B cell lymphoma (DLBCL). This prompted us to conduct a thorough, hospital-based epidemiological study in a major referral center of Pakistan. A total of 780 specimens were collected over last half decade from cases classified as adult Non Hodgkin's lymphoma (NHL). Out of these 780, 596 (76.4 %) were diagnosed as DLBCLs. The gender ratio was 2.3:1 (M:F) and the median age was 47.2 years, with an age range of 15-85 years. Nodal-NHLs constituted 42.2 % of all adult NHLs, with the cervical lymph nodes as the most frequent nodal site of presentation. The most frequent extranodal site was the gastro-intestinal tract (GIT), followed by the head and neck. In conclusion, we document an astonishingly high number of DLBCL amounting to an emerging epidemic in Pakistan, with a consideration of probable etiopathogenetic factors.

Objective: Presentation of kidney tumor patients in-group gave birth to the hypothesis that oncogen exposure is influenced by the weather. Frequency and spectrum of renal tumors was also studied. Incidence of the tumor cannot be evaluated as we are lacking in data collection of pediatric population, inoperable cases and patients with bilateral renal tumors, who did not under go nephrectomies., Subjects and Methods: Case records of all patients who underwent nephrectomy at the Department of Urology, Pakistan Institute of Medical Sciences (PIMS), Islamabad, between 1988 and 2000 were retrospectively analyzed. Histologically proven cases of renal cancer seen over 13 years period under review, were included in the study., Results: Between 1988 to 2000, 80 histologically proven cases of renal carcinoma were seen. The ages of the patients ranged from 10 to 80 years (median 55 years) with a male to female ratio of 2:1. The frequency of kidney tumor in different months was evaluated. Spring and end of summer season showed increase number of kidney tumor patients 27.50% and 30% respectively but it is not significant. This is a small study at one center and data from other centers may be conclusive. Histology showed renal cell carcinoma in 86.2%, squamous cell carcinoma in 3.75%, transitional cell carcinoma in 3.75%, Wilms' tumor and Non-Hodgkin's lymphoma in 1.25% each and undifferentiated in 2.5% cases. Invasiveness was found in 16.25% cases, 7.5% had renal vein involvement, 6.25% lymph node and 2.5% inferior vena cava. Side of involvement was right in 51.2% and left in 48.8% cases. Of the total urological malignancies that were seen during 13 years period under review, renal carcinoma was found in 12.4% cases. Of the total nephrectomies that were carried out during this period 24.5% were the cases of renal carcinoma. Hospital frequency of renal carcinoma was 2.28/100,000/year or 6.1 tumors per year., Conclusion: Impact of weather could not be proved a causative factor for kidney tumor presentation. This study also indicates that although the frequency of renal carcinoma may be different from western countries but the spectrum of the disease is quite similar.

Purpose: To map the disease locus in a four-generation, consanguineous Pakistani family affected by autosomal dominant congenital nuclear cataract (adNCat). All affected individuals had early onset of bilateral nuclear cataract., Methods: Genomic DNA from family members was typed for alleles at more than 300 known polymorphic genetic markers by polymerase chain reaction. The lod scores were calculated by using two-point linkage analysis of the genotyping data., Results: The maximum lod score, 4.05, was obtained for the marker D2S2333. Proximal and distal crossovers were observed with markers D2S286 and D2S1790, respectively. These crossovers define the critical disease locus to an interval of approximately 9 centimorgans (cM)., Conclusions: Linkage analysis identified a novel locus for adNCat on chromosome 2p12 in a Pakistani family. A genome database analysis of the target interval is being undertaken to identify candidate gene(s) for the disease.

Purpose: To map the disease locus in a six-generation, consanguineous Pakistani family with autosomal recessive retinitis pigmentosa (arRP). All affected individuals had pigmentary retinopathy associated with symptoms of night blindness and the loss of peripheral visual fields by the age of 20 years, loss of central vision between the ages of 25 and 30 years, and complete blindness between the ages of 40 and 50 years., Methods: Genomic DNA from family members was typed for alleles at known polymorphic genetic markers using polymerase chain reaction. Alleles were assigned to individuals, which allowed calculation of LOD scores using the programs Cyrillic (http://www.cyrillicsoftware.com) and MLINK (Cherwell Scientific Publishing LTD:, Oxford, UK). The genes for membrane glycoprotein (M6a) and chloride channel 3 (CLCN3) were analyzed by direct sequencing for mutations., Results: A new locus for arRP (RP29) has been mapped to chromosome 4q32-q34. A maximum two-point LOD score of 3.76 was obtained for the marker D4S415, with no recombination. Two recombination events in the pedigree positioned this locus to a region flanked by markers D4S621 and D4S2417. A putative region of homozygosity by descent was observed between the loci D4S3035 and D4S2417, giving a probable disease interval of 4.6 cM. Mutation screening of two candidate genes, M6a and CLCN3, revealed no disease-associated mutations., Conclusions: The results suggest that the arRP phenotype maps to a new locus and is due to a mutated gene within the 4q32-q34 chromosomal region.

Inherited cataract is a clinically and genetically heterogeneous disease that most often presents as a congenital autosomal dominant trait. Here we report linkage of a three-generation family of Pakistani origin with autosomal dominant cataract "zonular nuclear" pulverulent type (CZNP) on chromosome 1q21.1. Genome wide-linkage analysis excluded all the known cataract loci except on chromosome 1q. Significantly positive 2-point lod score values (Z=3.01 at theta=0) were obtained for markers D1S305 and D1S2721, which are known to flank the gene for connexin 50 (Cx50) or gap junction protein alpha-8 (Gja8). Previously a mutation in this gene has been reported in a British family with zonular pulverulent cataract (CZP). Here we describe a second mutation (E48K) in connexin 50 that confirms the involvement of this gene in cataractogenesis.

In order to determine the prevalence and type-specific distribution of human papillomavirus (HPV) in women from Pakistan, a country with a low cervical cancer rate (hospital-based data), and to compare these results with their counter-parts in Japan, we studied 56 non-neoplastic cervical tissues and 162 cervical carcinoma cases from both countries. HPV infection was defined by in situ hybridization in paraffin-embedded tissues using biotinylated HPV 6/11, 16 and 18 probes. The overall positivity rates in non-neoplastic and neoplastic cervical tissues from Pakistan were 33% and 88%, while in those from Japan the rates were 46% and 80%, respectively. High-risk HPVs (16 & 18) were found in 17% of the non-neoplastic specimens and in 69% of cervical carcinoma cases from Pakistan, while Japanese figures in this respect were 19% and 68%, respectively. No correlation was found between the type-specific distribution or prevalence of HPV and the geographic location of the cases examined in the 2 countries. However, in comparison to Japanese women, the incidence of HPV-16-positive cervical carcinoma in Pakistani women decreased significantly (p less than 0.05) in the oldest age group as compared to the youngest age group.