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1.  Effectiveness of Platelet Transfusion in Dengue Fever: A Randomized Controlled Trial 
Summary
Background
Scientific data regarding effects of platelet transfusion on platelet count in dengue-related thrombocytopenia is scanty.
Methods
A single center, randomized non-blinded trial was conducted on adult patients with dengue fever and platelet counts less than 30,000/μl. Patients were randomized to treatment and control group. Treatment group received single donor platelets. Patients with post-transfusion platelet increment (PPI) ≥10,000/μl and/or corrected count increment (CCI) ≥5,000/μl 1 h post-transfusion were considered responders. Primary outcome was platelet count increments at 24 and 72 h.
Results
87 patients were enrolled, and 43 (48.2%) received platelet transfusion. Mean PPI and CCI at 1 h post-transfusion in the treatment group were 18,800/μl and 7,000/μl respectively. 22 (53.6%) patients in the treatment group were non-responders. Mean platelet increments at 24 and 72 h were higher in the treatment group as compared to the control group. Responders showed significantly higher increments when compared to non-responders and the control group at 24 h (p = 0.004 and p ≤ 0.001, respectively) and 72 h (p = 0.001 and p ≤ 0.001, respectively). Significant differences were found between non-responders and the control group at 24 h (p ≤ 0.001), but not at 72 h (p = 0.104). Patients with lower baseline platelet count were more likely to be non-responders. Platelet transfusion neither prevented development of severe bleeding nor shortened time to cessation of bleeding. Three severe transfusion reactions and two deaths occurred in treatment group.
Conclusion
In this trial, almost half the patients showed no response to a high-dose platelet transfusion. Platelet transfusion did not prevent development of severe bleeding or shorten time to cessation of bleeding and was associated with significant side effects. Therefore, platelet transfusion should not be routinely done in the management of dengue fever.
doi:10.1159/000354837
PMCID: PMC3822277  PMID: 24273491
Dengue fever; Dengue hemorrhagic fever; Single donor apheresis platelets; Platelet transfusion; Corrected count increment; CCI; Transfusion reaction
2.  Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48 
Nature genetics  2012;44(11):1265-1271.
Sensorineural hearing loss is genetically heterogeneous. Here we report that mutations in CIB2, encoding a Ca2+- and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J). There is one mutation of CIB2 that is a prevalent cause of DFNB48 deafness in Pakistan; other CIB2 mutations contribute to deafness elsewhere in the world. In rodents, CIB2 is localized in the mechanosensory stereocilia of inner ear hair cells and in retinal photoreceptor and pigmented epithelium cells. Consistent with molecular modeling predictions of Ca2+ binding, CIB2 significantly decreased the ATP-induced Ca2+ responses in heterologous cells, while DFNB48 mutations altered CIB2 effects on Ca2+ responses. Furthermore, in zebrafish and Drosophila, CIB2 is essential for the function and proper development of hair cells and retinal photoreceptor cells. We show that CIB2 is a new member of the vertebrate Usher interactome.
doi:10.1038/ng.2426
PMCID: PMC3501259  PMID: 23023331
4.  Ectopia Lentis in a Consanguineous Pakistani Family and a Novel Locus on Chromosome 8q 
Archives of Ophthalmology  2010;128(8):1046-1049.
Objective
To investigate the genetic basis and molecular characteristics of the isolated form of ectopia lentis.
Methods
We ascertained a consanguineous Pakistani family with multiple individuals with ectopia lentis. All affected as well as unaffected members with isolated ectopia lentis underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extracted. A genome-wide scan was completed with 382 polymorphic microsatellite markers, and logarithm of odds (LOD) scores were calculated.
Results
Maximum 2-point LOD scores of 5.68 and 2.88 at θ=0 were obtained for markers D8S285 and D8S260, respectively, during the genome-wide scan. Additional microsatellite markers refined the disease locus to a 16.96-cM (14.07-Mb) interval flanked by D8S1737 proximally and D8S1117 distally.
Conclusions
We report on a new locus for nonsyndromic autosomal recessive ectopia lentis on chromosome 8q11.23-q13.2 in a consanguineous Pakistani family.
Clinical Relevance
Identification of genetic loci and genes involved in ectopia lentis will enhance our understanding of the disease at a molecular level, leading to better genetic counseling and family screening and possible future development of better treatment.
doi:10.1001/archophthalmol.2010.165
PMCID: PMC3398798  PMID: 20697006
5.  Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family 
The British Journal of Ophthalmology  2010;94(8):1094-1099.
Background
Retinitis pigmentosa (RP) is one of the most common ophthalmic disorders affecting one in approximately 5000 people worldwide. A nuclear family was recruited from the Punjab province of Pakistan to study the genetic basis of autosomal recessive RP.
Methods
All affected individuals underwent a thorough ophthalmic examination and the disease was characterised based upon results for fundus photographs and electroretinogram recordings. Genomic DNA was extracted from peripheral leucocytes. Exclusion studies were performed with short tandem repeat (STR) markers flanking reported autosomal recessive RP loci. Haplotypes were constructed and results were statistically evaluated.
Results
The results of exclusion analyses suggested that family PKRP173 was linked to chromosome 2q harbouring mer tyrosine kinase protooncogene (MERTK), a gene previously associated with autosomal recessive RP. Additional STR markers refined the critical interval and placed it in a 13.4 cM (17 Mb) region flanked by D2S293 proximally and D2S347 distally. Significant logarithm of odds (LOD) scores of 3.2, 3.25 and 3.18 at θ=0 were obtained with markers D2S1896, D2S2269 and D2S160. Sequencing of the coding exons of MERTK identified a mutation, c.718G→T in exon 4, which results in a premature termination of p.E240X that segregates with the disease phenotype in the family.
Conclusion
Our results strongly suggest that the nonsense mutation in MERTK, leading to premature termination of the protein, is responsible for RP phenotype in the affected individuals of the Pakistani family.
doi:10.1136/bjo.2009.171892
PMCID: PMC3393880  PMID: 20538656
6.  Height, weight and BMI percentiles and nutritional status relative to the international growth references among Pakistani school-aged children 
BMC Pediatrics  2012;12:31.
Background
Child growth is internationally recognized as an important indicator of nutritional status and health in populations. This study was aimed to compare age- and gender-specific height, weight and BMI percentiles and nutritional status relative to the international growth references among Pakistani school-aged children.
Methods
A population-based study was conducted with a multistage cluster sample of 1860 children aged five to twelve years in Lahore, Pakistan. Smoothed height, weight and BMI percentile curves were obtained and comparison was made with the World Health Organization 2007 (WHO) and United States' Centers for Disease Control and Prevention 2000 (USCDC) references. Over- and under-nutrition were defined according to the WHO and USCDC references, and the International Obesity Task Force (IOTF) cut-offs. Simple descriptive statistics were used and statistical significance was considered at P < 0.05.
Results
Height, weight and BMI percentiles increased with age among both boys and girls, and both had approximately the same height and a lower weight and BMI as compared to the WHO and USCDC references. Mean differences from zero for height-, weight- and BMI-for-age z score values relative to the WHO and USCDC references were significant (P < 0.001). Means of height-for-age (present study: 0.00, WHO: -0.19, USCDC: -0.24), weight-for-age (present study: 0.00, WHO: -0.22, USCDC: -0.48) and BMI-for-age (present study: 0.00, WHO: -0.32, USCDC: -0.53) z score values relative to the WHO reference were closer to zero and the present study as compared to the USCDC reference. Mean differences between weight-for-age (0.19, 95% CI 0.10-0.30) and BMI-for-age (0.21, 95% CI 0.11-0.30) z scores relative to the WHO and USCDC references were significant. Over-nutrition estimates were higher (P < 0.001) by the WHO reference as compared to the USCDC reference (17% vs. 15% overweight and 7.5% vs. 4% obesity) while underweight and thinness/wasting were lower (P < 0.001) by the WHO reference as compared to the USCDC reference (7% vs. 12% underweight and 10% vs. 13% thinness). Significantly lower overweight (8%) and obesity (5%) prevalence and higher thinness grade one prevalence (19%) was seen with use of the IOTF cut-offs as compared to the WHO and USCDC references. Mean difference between height-for-age z scores and difference in stunting prevalence relative to the WHO and USCDC references was not significant.
Conclusion
Pakistani school-aged children significantly differed from the WHO and USCDC references. However, z score means relative to the WHO reference were closer to zero and the present study as compared to the USCDC reference. Overweight and obesity were significantly higher while underweight and thinness/wasting were significantly lower relative to the WHO reference as compared to the USCDC reference and the IOTF cut-offs. New growth charts for Pakistani children based on a nationally representative sample should be developed. Nevertheless, shifting to use of the 2007 WHO child growth reference might have important implications for child health programs and primary care pediatric clinics.
doi:10.1186/1471-2431-12-31
PMCID: PMC3337223  PMID: 22429910
7.  Dietary behaviors, physical activity and sedentary lifestyle associated with overweight and obesity, and their socio-demographic correlates, among Pakistani primary school children 
Background
There is no data on diet- and activity-related behaviors associated with overweight and obesity among Pakistani school-aged children. The study aimed to explore dietary behaviors, physical activity and sedentary lifestyle associated with overweight and obesity, and their socio-demographic correlates, among Pakistani primary school children.
Methods
A population-based cross-sectional study was conducted with a representative multistage random cluster sample of 1860 children aged five to twelve years in Lahore, Pakistan. Overweight (> +1 SD) and obesity (> +2 SD) were defined using the World Health Organization reference 2007. Chi-square test was used as the test of trend. Linear regression was used to examine the predictive power of independent variables in relation to body mass index (BMI). Logistic regression was used to quantify the independent predictors and adjusted odds ratios (aOR) with 95% confidence intervals (CI) were obtained. Statistical significance was considered at P < 0.05.
Results
Children skipping breakfast (8%), eating fast food and snacks ≥ once a week (43%) and being involved in sedentary lifestyle > one hour a day (49%) were significantly more likely to be overweight and obese while those participating in physical activity > twice a week (53%) were significantly less likely to be overweight and obese (all P < 0.01). Skipping breakfast (P < 0.001), eating fast food and snacks (P = 0.001) and sedentary lifestyle (P < 0.001) showed an independent positive association with BMI while physical activity showed an independent inverse association (P = 0.001). Skipping breakfast (aOR 1.82, 95% CI 1.22-2.71), eating fast food and snacks ≥ once a week (OR 1.41, 95% CI 1.07-1.86), physical activity > twice a week (aOR 0.49, 95% CI 0.34-0.70) and sedentary lifestyle > one hour a day (aOR 1.56, 95% CI 1.19-2.03) were independent predictors of being overweight. Skipping breakfast had independent inverse association with physical activity (aOR 0.63, 95% CI 0.45-0.89) and eating fast food and snacks had independent positive association with sedentary lifestyle (aOR 1.79, 95% CI 1.49-2.16). Female gender was independently associated with skipping breakfast (aOR 1.50, 95% CI 1.04-2.16). Male gender (aOR 1.64, 95% CI 1.33-2.02), urban area with high SES (aOR 5.09, 95% CI 3.02-8.60) and higher parental education (aOR 1.74, 95% CI 1.12-2.68) were significant independent predictors of eating fast food and snacks ≥ once a week. Living in the rural area was independently associated (aOR 2.51, 95% CI 1.71-3.68) with physical activity > twice a week. Male gender (aOR 1.60, 95% CI 1.31-1.95), urban area with low SES (aOR 1.46, 95% CI 1.02-2.09), high-income neighborhoods (aOR 1.52, 95% CI 1.02-2.25), higher parental education (aOR 1.55, 95% CI 1.03-2.34) and fewer siblings (aOR 1.38, 95% CI 1.10-1.73) were independent predictors of sedentary lifestyle > one hour a day.
Conclusions
Dietary behaviors, physical activity and sedentary lifestyle are independent predictors of overweight and higher BMI among Pakistani primary school children, and are significantly affected by the child's socio-demographic characteristics. These findings support the urgent need to develop a National strategy for diet and physical activity and to implement culturally relevant behavioral interventions in the resource-poor developing country settings.
doi:10.1186/1479-5868-8-130
PMCID: PMC3250930  PMID: 22117626
8.  Waist circumference, waist-hip ratio and waist-height ratio percentiles and central obesity among Pakistani children aged five to twelve years 
BMC Pediatrics  2011;11:105.
Background
Central obesity has been associated with the risk of cardiovascular and metabolic disease in children and anthropometric indices predictive of central obesity include waist circumference (WC), waist-hip ratio (WHR) and waist-height ratio (WHtR). South Asian children have higher body fat distribution in the trunk region but the literature regarding WC and related indices is scarce in this region. The study was aimed to provide age- and gender-specific WC, WHR and WHtR smoothed percentiles, and to explore prevalence and correlates of central obesity, among Pakistani children aged five to twelve years.
Methods
A population-based cross-sectional study was conducted with a representative multistage random cluster sample of 1860 primary school children aged five to twelve years in Lahore, Pakistan. Smoothed percentile curves were constructed for WC, WHR and WHtR by the LMS method. Central obesity was defined as having both age- and gender-specific WC percentile ≥90th and WHtR ≥0.5. Chi-square test was used as the test of trend. Multivariate logistic regression was used to quantify the independent predictors of central obesity and adjusted odds ratios (aOR) with 95% CI were obtained. Linear regression was used to explore the independent determinants of WC and WHtR. Statistical significance was considered at P < 0.05.
Results
First ever age- and gender-specific smoothed WC, WHR and WHtR reference curves for Pakistani children aged five to twelve years are presented. WC increased with age among both boys and girls. Fiftieth WC percentile curves for Pakistani children were higher as compared to those for Hong Kong and British children, and were lower as compared to those for Iranian, German and Swiss children. WHR showed a plateau pattern among boys while plateau among girls until nine years of age and decreased afterwards. WHtR was age-independent among both boys and girls, and WHtR cut-off of ≥0.5 for defining central obesity corresponded to 85th WHtR percentile irrespective of age and gender. Twelve percent children (95% CI 10.1-13.0) had a WC ≥90th percentile and 16.5% children (95% CI 14.7-18.1) had a WHtR ≥0.5 while 11% children (95% CI 8.9-11.6) had both WC ≥90th percentile and WHtR ≥0.5. Significant predictors of central obesity included higher grade, urban area with high socioeconomic status (SES), high-income neighborhood and higher parental education. Children studying in higher grade (aOR 5.11, 95% CI 1.76-14.85) and those living in urban area with high SES (aOR 82.34, 95% CI 15.76-430.31) showed a significant independent association. Urban area with high SES and higher parental education showed a significant independent association with higher WC and higher WHtR while higher grade showed a significant independent association with higher WC.
Conclusions
Comprehensive worldwide reference values are needed to define central obesity and the present study is the first one to report anthropometric indices predictive of central obesity for Pakistani school-aged children. Eleven percent children were centrally obese and strong predictors included higher grade, urban area with high SES and higher parental education. These findings support the need for developing a National strategy for childhood obesity and implementing targeted interventions, prioritizing the higher social class and involving communities.
doi:10.1186/1471-2431-11-105
PMCID: PMC3239239  PMID: 22104025
9.  Prevalence and socioeconomic correlates of overweight and obesity among Pakistani primary school children 
BMC Public Health  2011;11:724.
Background
Childhood obesity is becoming an equally challenging, yet under-recognized, problem in developing countries including Pakistan. Children and adolescents are worst affected with an estimated 10% of the world's school-going children being overweight and one quarter of these being obese. The study aimed to assess prevalence and socioeconomic correlates of overweight and obesity, and trend in prevalence statistics, among Pakistani primary school children.
Methods
A population-based cross-sectional study was conducted with a representative multistage cluster sample of 1860 children aged 5-12 years in Lahore, Pakistan. Overweight (> + 1SD) and obesity (> + 2SD) were defined using the World Health Organization child growth reference 2007. Chi-square test was used as the test of trend. Linear regression was used to examine the predictive power of independent variables in relation to BMI. Logistic regression was used to quantify the independent predictors for overweight and adjusted odds ratios (aOR) with 95% confidence intervals (CI) were obtained. All regression analyses were controlled for age and gender and statistical significance was considered at P < 0.05.
Results
Seventeen percent (95% CI 15.4-18.8) children were overweight and 7.5% (95% CI 6.5-8.7) were obese. Higher prevalence of obesity was observed among boys than girls (P = 0.028), however, there was no gender disparity in overweight prevalence. Prevalence of overweight showed a significantly increasing trend with grade (P < 0.001). Children living in the urban area with high socioeconomic status (SES) were significantly at risk for being overweight and obese (both P < 0.001) as compared to children living in the urban area with lower SES and rural children. Being in higher grade (aOR 2.39, 95% CI 1.17-4.90) and living in the urban area with higher SES (aOR 18.10, 95% CI 10.24-32.00) independently predicted the risk of being overweight.
Conclusion
Alarmingly rapid rise in overweight and obesity among Pakistani primary school children was observed, especially among the affluent urban population. The findings support the urgent need for National preventive strategy for childhood obesity and targeted interventions tailored to local circumstances with meaningful involvement of communities.
doi:10.1186/1471-2458-11-724
PMCID: PMC3195095  PMID: 21943029
11.  Gestational diabetes mellitus is rare in primigravida Pakistani women 
Background:
Gestational diabetes mellitus is a metabolic disorder defined as glucose intolerance with onset or first recognition during pregnancy. Similar to other members of the Asian race, Pakistani women are also considered to be at a high risk for developing gestational diabetes.
Materials and Methods:
In order to better understand whether this heightened risk attributed to race really exists, we conducted a prospective study to assess the glycemic status of primigravida women presenting to our hospital.
Results:
The mean age of 135 subjects enrolled was 22 (16-31), with 21 (16%), 60 (44%), and 54 (40%) subjects in the first, second, and third trimesters of pregnancy, respectively. The mean fasting, 1-hour, and 2-hour plasma glucose levels were 69.9 mg/dL (3.9 mmol/L), 129 mg/dL (7.2 mmol/L), and 103.6 mg/dL (5.76 mmol/L), respectively. Of 135 women, 6 had a blood pressure reading ≥140/90 mm Hg and only one met the criteria for gestational diabetes mellitus. In our study, despite using the newly proposed International Association of Diabetes and Pregnancy Study (IADPS) cut-offs for diagnosis of gestational diabetes, the incidence rate of gestational diabetes mellitus in primigravida was still <1%.
Conclusion:
Larger trials are needed to truly assess the disease burden of gestational diabetes mellitus in Pakistani women.
doi:10.4103/2230-8210.83404
PMCID: PMC3156539  PMID: 21897896
Gestational diabetes mellitus; hyperglycemia; International Association of Diabetes and Pregnancy Study Groups; The Hyperglycemia and Adverse Pregnancy Outcome study
12.  Urban-rural inequities in knowledge, attitudes and practices regarding tuberculosis in two districts of Pakistan's Punjab province 
Objective
The aim of this study was to explore inequities in knowledge, attitudes and practices regarding tuberculosis (TB) among the urban and rural populations.
Design
A cross-sectional study was conducted in two districts of Pakistan's Punjab province. The 1080 subjects aged 20 years and above, including 432 urban and 648 rural respondents, were randomly selected using multistage cluster sampling and interviewed after taking verbal informed consent. Logistic regression was used to calculate the crude odds ratio (OR) with 95% confidence interval (CI) for the urban area. The differences in knowledge, attitudes, practices and information sources between the urban and rural respondents were highlighted using Pearson chi-square test and Fisher's exact test.
Results
The study revealed poor knowledge regarding TB. The deficit was greater in the rural areas in all aspects. The knowledge regarding symptoms (OR 2.03, 95% CI 1.59-2.61), transmission (OR 1.93, 95% CI 1.44-2.59), prevention (OR 2.24, 95% CI 1.70-2.96), duration of standard treatment (OR 1.88, 95% 1.41-2.49) and DOTS (OR 1.84, 95% CI 1.43-2.38) was significantly higher in the urban areas (all P < 0.001). Although a majority of the subjects (urban 83.8%, rural 81.2%) were aware of the correct treatment for TB, less than half (urban 48.1%, rural 49.2%) were aware of the availability of the diagnostic facility and treatment free of cost. The practice of seeking treatment at a health facility (P = 0.030; OR 2.01, 95% CI 1.06-3.82), as soon as they realized that they had TB symptoms (P < 0.001; OR 1.72, 95% CI 1.26-2.35), was significantly higher in the urban areas. People in the urban areas were more likely to feel ashamed and embarrassed being a TB patient (P < 0.001; OR 2.03, 95% CI 1.50-2.76); however, they seem to be supportive in case their family member suffered from TB (P = 0.005; OR 1.53, 95% CI 1.13-2.06). Nearly half of the respondents, irrespective of the area of residence, believed that the community rejects the TB patient (urban 49.8%, rural 46.4%). Television (urban 80.1%, rural 68.1%) and health workers (urban 30.6%, rural 41.4%) were the main sources for people to acquire the TB related information.
Conclusion
Respondents' knowledge regarding TB was deficient in all aspects, particularly in the rural areas. Intended health seeking behavior was better in the urban areas. Television and health workers were the main sources for TB related information in both the urban as well as the rural areas. Therefore, the area of residence should be considered in tailoring communication strategies and designing future interventions for TB prevention and control.
doi:10.1186/1475-9276-10-8
PMCID: PMC3045313  PMID: 21294873
13.  Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa 
Molecular Vision  2011;17:1373-1380.
Purpose
This study was designed to identify pathogenic mutations causing autosomal recessive retinitis pigmentosa (RP) in consanguineous Pakistani families.
Methods
Two consanguineous families affected with autosomal recessive RP were identified from the Punjab Province of Pakistan. All affected individuals underwent a thorough ophthalmologic examination. Blood samples were collected, and genomic DNAs were extracted. Exclusion analysis was completed, and two-point LOD scores were calculated. Bidirectional sequencing of the β subunit of phosphodiesterase 6 (PDE6β) was completed.
Results
During exclusion analyses both families localized to chromosome 4p, harboring PDE6β, a gene previously associated with autosomal recessive RP. Sequencing of PDE6β identified missense mutations: c.1655G>A (p.R552Q) and c.1160C>T (p.P387L) in families PKRP161 and PKRP183, respectively. Bioinformatic analyses suggested that both mutations are deleterious for the native three-dimensional structure of the PDE6β protein.
Conclusions
These results strongly suggest that mutations in PDE6β are responsible for the disease phenotype in the consanguineous Pakistani families.
PMCID: PMC3108895  PMID: 21655355
14.  From their own perspective - constraints in the Polio Eradication Initiative: perceptions of health workers and managers in a district of Pakistan's Punjab province 
Background
The success of the Global Polio Eradication Initiative was remarkable, but four countries - Afghanistan, Pakistan, India and Nigeria - never interrupted polio transmission. Pakistan reportedly achieved all milestones except interrupting virus transmission. This paper describes the perceptions of health workers and managers regarding constraints in the Polio Eradication Initiative (PEI) to ultimately provide evidence for designing future interventions.
Methods
A qualitative cross-sectional study using focus group discussions and in-depth interviews was conducted in the Nankana Sahib District of Pakistan's Punjab province. Study subjects included staff at all levels in the PEI at district headquarters, in all 4 tehsils (sub-districts) and at 20 randomly selected primary health centers. In total, 4 FGD and 7 interview sessions were conducted and individual session summary notes were prepared and later synthesized, consolidated and subjected to conceptual analysis.
Results
The main constraints identified in the study were the poor condition of the cold chain in all aspects, poor skills and a lack of authority in resource allocation and human resource management, limited advocacy and communication resources, a lack of skills and training among staff at all levels in the PEI/EPI in almost all aspects of the program, a deficiency of public health professionals, poor health services structure, administrative issues (including ineffective means of performance evaluation, bureaucratic and political influences, problems in vaccination areas and field programs, no birth records at health facilities, and poor linkage between different preventive programs), unreliable reporting and poor monitoring and supervision systems, limited use of local data for interventions, and unclear roles and responsibilities after decentralization.
Conclusion
The study highlights various shortcomings and bottlenecks in the PEI, and the barriers identified should be considered in prioritizing future strategies.
doi:10.1186/1472-698X-10-22
PMCID: PMC2936408  PMID: 20731832
15.  Are we doing enough? Evaluation of the Polio Eradication Initiative in a district of Pakistan's Punjab province: a LQAS study 
BMC Public Health  2010;10:60.
Background
The success of the Global Polio Eradication Initiative was remarkable, but four countries - Afghanistan, Pakistan, India and Nigeria - never interrupted polio transmission. Pakistan reportedly achieved all milestones except interrupting virus transmission. The aim of the study was to establish valid and reliable estimate for: routine oral polio vaccine (OPV) coverage, logistics management and the quality of monitoring systems in health facilities, NIDs OPV coverage, the quality of NIDs service delivery in static centers and mobile teams, and to ultimately provide scientific evidence for tailoring future interventions.
Methods
A cross-sectional study using lot quality assessment sampling was conducted in the District Nankana Sahib of Pakistan's Punjab province. Twenty primary health centers and their catchment areas were selected randomly as 'lots'. The study involved the evaluation of 1080 children aged 12-23 months for routine OPV coverage, 20 health centers for logistics management and quality of monitoring systems, 420 households for NIDs OPV coverage, 20 static centers and 20 mobile teams for quality of NIDs service delivery. Study instruments were designed according to WHO guidelines.
Results
Five out of twenty lots were rejected for unacceptably low routine immunization coverage. The validity of coverage was questionable to extent that all lots were rejected. Among the 54.1% who were able to present immunization cards, only 74.0% had valid immunization. Routine coverage was significantly associated with card availability and socioeconomic factors. The main reasons for routine immunization failure were absence of a vaccinator and unawareness of need for immunization. Health workers (96.9%) were a major source of information. All of the 20 lots were rejected for poor compliance in logistics management and quality of monitoring systems. Mean compliance score and compliance percentage for logistics management were 5.4 ± 2.0 (scale 0-9) and 59.4% while those for quality of monitoring systems were 3.3 ± 1.2 (scale 0-6) and 54.2%. The 15 out of 20 lots were rejected for unacceptably low NIDs coverage by finger-mark. All of the 20 lots were rejected for poor NIDs service delivery (mean compliance score = 11.7 ± 2.1 [scale 0-16]; compliance percentage = 72.8%).
Conclusion
Low coverage, both routine and during NIDs, and poor quality of logistics management, monitoring systems and NIDs service delivery were highlighted as major constraints in polio eradication and these should be considered in prioritizing future strategies.
doi:10.1186/1471-2458-10-60
PMCID: PMC2845105  PMID: 20144212
16.  A new locus for autosomal recessive congenital cataract identified in a Pakistani family 
Molecular Vision  2010;16:240-245.
Purpose
To identify the disease locus for autosomal recessive congenital cataract in a consanguineous Pakistani family.
Methods
All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extracted. A genome-wide scan was performed with polymorphic microsatellite markers on genomic DNA from affected and unaffected family members, and logarithm of odds (LOD) scores were calculated.
Results
The clinical records and ophthalmological examinations suggested that all affected individuals have nuclear cataracts. Maximum LOD scores of 5.01, 4.38, and 4.17 at θ=0 were obtained with markers D7630, D7S657, and D7S515, respectively. Fine mapping refined the critical interval and suggested that markers in a 27.78 cM (27.96 Mb) interval are flanked by markers D7S660 and D7S799, which co-segregate with the disease phenotype in family PKCC108.
Conclusions
We have identified a new locus for autosomal recessive congenital cataract, localized to chromosome 7q21.11-q31.1 in a consanguineous Pakistani family.
PMCID: PMC2822550  PMID: 20161816
17.  Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family 
Molecular Vision  2010;16:511-517.
Purpose
To investigate the genetic basis of autosomal recessive congenital cataracts in a consanguineous Pakistani family.
Methods
All affected individuals underwent a detailed ophthalmological and clinical examination. Blood samples were collected and genomic DNAs were extracted. A genome-wide scan was performed with polymorphic microsatellite markers. Logarithm of odds (LOD) scores were calculated, and Eph-receptor type-A2 (EPHA2), residing in the critical interval, was sequenced bidirectionally.
Results
The clinical and ophthalmological examinations suggested that all affected individuals have nuclear cataracts. Genome-wide linkage analyses localized the critical interval to a 20.78 cM (15.08 Mb) interval on chromosome 1p, with a maximum two-point LOD score of 5.21 at θ=0. Sequencing of EPHA2 residing in the critical interval identified a missense mutation: c.2353G>A, which results in an alanine to threonine substitution (p.A785T).
Conclusions
Here, we report for the first time a missense mutation in EPHA2 associated with autosomal recessive congenital cataracts.
PMCID: PMC2846848  PMID: 20361013
18.  Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1 
Molecular Vision  2010;16:682-688.
Purpose
To identify the pathogenic mutations responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families.
Methods
All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was performed with polymorphic microsatellite markers on genomic DNA from affected and unaffected family members and logarithm of odds (LOD) scores were calculated. All coding exons of galactokinase (GALK1) were sequenced to identify pathogenic lesions.
Results
Clinical records and ophthalmological examinations suggested that affected individuals have nuclear cataracts. Linkage analysis localized the critical interval to chromosome 17q with a maximum LOD score of 5.54 at θ=0, with D17S785 in family PKCC030. Sequencing of GALK1, a gene present in the critical interval, identified a single base pair deletion: c.410delG, which results in a frame shift leading to a premature termination of GALK1: p.G137fsX27. Additionally, we identified a missense mutation: c.416T>C, in family PKCC055 that results in substitution of a leucine residue at position 139 with a proline residue: p.L139P, and is predicted to be deleterious to the native GALK1 structure.
Conclusions
Here, we report pathogenic mutations in GALK1 that are responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families.
PMCID: PMC2855732  PMID: 20405025
19.  Cardiovascular health knowledge and behavior in patient attendants at four tertiary care hospitals in Pakistan – a cause for concern 
BMC Public Health  2005;5:124.
Background
Knowledge about coronary heart disease (CHD) and its risk factors is an important pre-requisite for an individual to implement behavioral changes leading towards CHD prevention. There is scant data on the status of knowledge about CHD in the general population of Pakistan. The objective of this study was to assess knowledge of CHD in a broad Pakistani population and identify the factors associated with knowledge.
Methods
Cross sectional study was carried out at four tertiary care hospitals in Pakistan using convenience sampling. Standard questionnaire was used to interview 792 patient attendants (persons accompanying patients). Knowledge was computed as a continuous variable based on correct answers to fifteen questions. Multivariable linear regression was conducted to determine the factors independently associated with knowledge.
Results
The mean age was 38.1 (±13) years. 27.1% had received no formal education. The median knowledge score was 3.0 out of a possible maximum of 15. Only 14% were able to correctly describe CHD as a condition involving limitation in blood flow to the heart. Majority of respondents could identify only up to two risk factors for CHD. Most commonly identified risk factors were stress (43.4%), dietary fat (39.1%), smoking (31.9%) and lack of exercise (17.4%). About 20% were not able to identify even a single risk factor for CHD. Factors significantly associated with knowledge included age (p = 0.023), income (p < 0.001), education level (p < 0.001), residence (p < 0.001), a family history of CHD (p < 0.001) and a past history of diabetes (p = 0.004). Preventive practices were significantly lacking; 35%, 65.3% and 84.6% had never undergone assessment of blood pressure, glucose or cholesterol respectively. Only a minority felt that they would modify their diet, stop smoking or start exercising if a family member was to develop CHD.
Conclusion
This is the first study assessing the state of CHD knowledge in a relatively diverse non-patient population in Pakistan. There are striking gaps in knowledge about CHD, its risk factors and symptoms. These translate to inadequate preventive behavior patterns. Educational programs are urgently required to improve the level of understanding of CHD in the Pakistani population.
doi:10.1186/1471-2458-5-124
PMCID: PMC1318493  PMID: 16309553

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