Genomes and Genes
Experts and Doctors on adult in Islāmābād, Pakistan
Locale: Islāmābād, Pakistan
Publications124 found, 100 shown here
- Pfitzer A, Mackenzie D, Blanchard H, Hyjazi Y, Kumar S, Lisanework Kassa S, et al. A facility birth can be the time to start family planning: postpartum intrauterine device experiences from six countries. Int J Gynaecol Obstet. 2015;130 Suppl 2:S54-61 pubmed publisher..Expulsion rates were 3.7% in Pakistan, 3.6% in Ethiopia, and 1.7% in Guinea and the Philippines. Infection rates did not exceed 1.3%, and three countries recorded no cases. Offering PPFP/PPIUD at birth improves access to contraception. ..
- Faryal R, Ishfaq M, Hayat T, Mahjabeen I, Kayani M. Novel SYK gene variations and changes in binding sites of miRs in breast cancer patients. Cancer Biomark. 2016;16:319-26 pubmed publisher..Overall novel mutations in SYK gene and in silico analysis revealed that these mutations are crucial and might be responsible for altered expression of SYK. ..
- Bibi T, Ahmad M, Edwards S, Tareen N, Jabeen R, Abdullah I. Ethnomedicinal uses of plants in the treatment of paediatric geohelminth infections in Kalat district of Northern Balochistan, Pakistan. J Ethnopharmacol. 2016;183:176-186 pubmed publisher..These plants may provide a source of novel anthelmintic drug leads, which are urgently required due to the problem of global anthelmintic resistance. ..
- Tariq K, Malik S, Ali S, Maqsood S, Azam A, Muslim I, et al. Association of Pro12Ala polymorphism in peroxisome proliferator activated receptor gamma with proliferative diabetic retinopathy. Mol Vis. 2013;19:710-7 pubmed..2-0.8) with non-significant effects on the susceptibility of non-proliferative DR (OR=0.67; 95% CI=0.37-1.19). We report a protective role of the 12Ala polymorphism against proliferative DR in individuals with T2DM in Pakistan. ..
- Khaliq S, Hameed A, Ismail M, Anwar K, Leroy B, Payne A, et al. Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous. Invest Ophthalmol Vis Sci. 2001;42:2225-8 pubmed..However, homozygosity across the region refined the arPHPV locus to 13 cM. Linkage analysis shows localization of nonsyndromic arPHPV to chromosome10q11-q21. ..
- Alam M, Zaidi S, Malik S, Shaukat S, Naeem A, Sharif S, et al. Molecular epidemiology of Hepatitis B virus genotypes in Pakistan. BMC Infect Dis. 2007;7:115 pubmed..99%). Nine (8.18%) samples remained untyable. In Asia, genotypes B and C are the most prevalent but our study reveals that genotype D is predominant and HBV infection constitutes a significant health problem in Pakistan. ..
- Khan M, Collin R, Arimadyo K, Micheal S, Azam M, Qureshi N, et al. Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa. Mol Vis. 2010;16:2753-9 pubmed..The mutations p.D2767Y and p.D3028Y described in this study affect highly conserved residues at homologous positions in laminin A G-like domains and support the notion that missense mutations in EYS can cause arRP. ..
- Wright S, Noon M, Greenough W. Oral Rehydration Therapy and Feeding Replaces Total Parenteral Nutrition: A Clinical Vignette. J Gen Intern Med. 2016;31:255-7 pubmed publisher..This allowed her to return home to the care of her mother. We suggest that ORT can be effective in the context of modern high-technology settings, as well as in resource-poor situations. ..
- Rabbani M, Khan M, Qureshi R, Zubair M, Pervez M. Does the added benefit of ondansetron over dexamethasone, to control post-operative nausea and vomiting, justify the added cost in patients undergoing tonsillectomy and adenotonsillectomy?. J Pak Med Assoc. 2010;60:559-61 pubmed..05). Dexamethasone was equally effective in controlling PONV in tonsillectomy and adenotonsillectomy patients. The improved benefit of using ondansetron over dexamethasone, on a regular basis, does not justify the added cost. ..
- Alam M, Zaidi S, Malik S, Naeem A, Shaukat S, Sharif S, et al. Serology based disease status of Pakistani population infected with hepatitis B virus. BMC Infect Dis. 2007;7:64 pubmed..Our results indicate high prevalence rate of Hepatitis B virus infection and nationwide vaccination campaigns along with public awareness and educational programs are needed to be practiced urgently. ..
- Malik S, Jabeen N. Zygodactyly with thumb aplasia: an unusual variant in a male subject. J Coll Physicians Surg Pak. 2011;21:710-2 pubmed publisher..There was aplasia of certain carpals while the radius showed minimal clinical symptoms. The subject was the product of first cousins union. To the best of our knowledge, this combination of limb phenotype has not been described before. ..
- Naz S, Khalily M. Indigenous Adoption of Novaco's Model of Anger Management Among Individuals with Psychiatric Problems in Pakistan. J Relig Health. 2016;55:439-47 pubmed publisher..01) scored lower on the NAI and ASR (at post-assessment) as compared to the control group. Therefore, the indigenous model of anger management was shown to be more effective than general counseling for anger management. ..
- Ullah F, Malik S, Ahmed J. Antimicrobial susceptibility and ESBL prevalence in Pseudomonas aeruginosa isolated from burn patients in the North West of Pakistan. Burns. 2009;35:1020-5 pubmed publisher..This study reveals that P. aeruginosa isolated from burns in this region are multidrug resistant and produce ESBL in large proportions. ..
- Mir A, Wajid A, Reichenbach L, Khan M. STI prevalence and associated factors among urban men in Pakistan. Sex Transm Infect. 2009;85:199-200 pubmed publisher..Health education messages should target less educated segments of society and specifically advocate safe sex practices and early diagnosis. ..
- Maselko J, Sikander S, Bhalotra S, Bangash O, Ganga N, Mukherjee S, et al. Effect of an early perinatal depression intervention on long-term child development outcomes: follow-up of the Thinking Healthy Programme randomised controlled trial. Lancet Psychiatry. 2015;2:609-17 pubmed publisher..Prolonged, detailed, and frequent follow-up is warranted for all interventions. Grand Challenges Canada (Government of Canada), Saving Brains programme. ..
- Ahmad L, Semotiuk A, Zafar M, Ahmad M, Sultana S, Liu Q, et al. Ethnopharmacological documentation of medicinal plants used for hypertension among the local communities of DIR Lower, Pakistan. J Ethnopharmacol. 2015;175:138-46 pubmed publisher..In future studies, the plant should be further screened for phytochemical and new medicinal properties. ..
- Mahmood H, Khan Z, Masood S. Effects of male literacy on family size: A cross sectional study conducted in Chakwal city. J Pak Med Assoc. 2016;66:399-403 pubmed..3%) of educated males (p< 0.001). Educational status of the males had an effect on the desired family size, contraceptive use and views in favour of female education. ..
- Jelani M, Salman Chishti M, Ahmad W. A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy. Clin Exp Dermatol. 2009;34:68-73 pubmed publisher..The mutation identified here represents the first mutation in the CDH3 gene causing HJMD in a Pakistani population. ..
- Kiani Q, Amir M, Ghazanfar M, Iqbal M. Microbiology of wound infections among hospitalised patients following the 2005 Pakistan earthquake. J Hosp Infect. 2009;73:71-8 pubmed publisher..6%) and multidrug-resistant organisms (61.5%). Pseudomonas aeruginosa, Enterobacter spp. and Acinetobacter spp. were the commonest isolates, and most of these were multidrug resistant. ..
- Ajmal M, Khan M, Neveling K, Khan Y, Ali S, Ahmed W, et al. Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. Mol Vis. 2012;18:1558-71 pubmed..Met253Arg), in family B. We identified two novel disease-causing RDH5 mutations in Pakistani families with FA, which will improve diagnosis and genetic counseling, and may even lead to treatment of this disease in these families. ..
- Alamdar A, Ali Musstjab Akber Shah Eqani S, Waqar Ali S, Sohail M, Bhowmik A, Cincinelli A, et al. Human Arsenic exposure via dust across the different ecological zones of Pakistan. Ecotoxicol Environ Saf. 2016;126:219-227 pubmed publisher..Similarly, carcinogenic risk assessment also highlighted potential threats to the residents of LLZ and ARZ, as in few cases (5-10%) the values exceeded the range of US-EPA threshold limits (10(-6)-10(-4)). ..
- Rahman A, Bunn J, Lovel H, Creed F. Maternal depression increases infant risk of diarrhoeal illness: --a cohort study. Arch Dis Child. 2007;92:24-8 pubmed..It is independent of the effects of known factors such as undernutrition, socioeconomic status and parental education. Preventive child health programmes targeting mothers must consider their mental health. ..
- Ansari M, Manzoor R, Siddiqui N, Ahmed A. Access to comprehensive emergency obstetric and newborn care facilities in three rural districts of Sindh province, Pakistan. Health Res Policy Syst. 2015;13 Suppl 1:55 pubmed publisher..C-EmONC facilities in both the public and private sectors may simply not be accessible and affordable for the vast majority of poor and marginalised women in targeted districts. ..
- Khokhar N. Spectrum of chronic liver disease in a tertiary care hospital. J Pak Med Assoc. 2002;52:56-8 pubmed..Chronic hepatitis C makes the largest percentage in this series of cases followed by hepatocellular carcinoma, cirrhosis and metastatic adenocarcinoma as causes of chronic liver disease in this part of Pakistan. ..
- Shaheen R, Subhan F, Tahir F. Epidemiology of genital tuberculosis in infertile population. J Pak Med Assoc. 2006;56:306-9 pubmed..It is essential for a gynaecologist working in developing countries to anticipate possibility of genital tuberculosis in infertile patients. ..
- Mustafa M, Hussain S, Qureshi S, Malik S, Kazmi A, Naeem M. Study of the effect of antiviral therapy on homocysteinemia in hepatitis C virus- infected patients. BMC Gastroenterol. 2012;12:117 pubmed publisher..This study highlights the significance of the measurement of serum homocysteine levels in the diagnosis and monitoring of HCV infection treatment in addition to other laboratory parameters. ..
- Mir A, Shaikh M, Rashida G, Mankani N. To serve or to leave: a question faced by public sector healthcare providers in Pakistan. Health Res Policy Syst. 2015;13 Suppl 1:58 pubmed publisher..In order to improve coverage of healthcare services in Pakistan, the government will have to introduce more focused interventions to attract and retain healthcare providers, especially in remote and rural areas of the country. ..
- Bhutta Z, Hafeez A. What can Pakistan do to address maternal and child health over the next decade?. Health Res Policy Syst. 2015;13 Suppl 1:49 pubmed publisher..This paper presents a range of actions needed for change within the health and social sectors, including primary care, social determinants, strategies to reach the unreached, and accountability. ..
- Nisar Y, Dibley M, Aguayo V. Iron-Folic Acid Supplementation During Pregnancy Reduces the Risk of Stunting in Children Less Than 2 Years of Age: A Retrospective Cohort Study from Nepal. Nutrients. 2016;8:67 pubmed publisher..The greatest impact on the risk reduction of child stunting was when IFA supplements were started â‰¤6 months with â‰¥90 supplements were used. ..
- Khan M, Khan K, Shah S, Mir K, Khattak M, Shahzad M. Risk Factors Associated with Thyroid Carcinoma in North Pakistan. Asian Pac J Cancer Prev. 2016;17:377-80 pubmed..Rates were significantly higher in patients who had history of recent increase in swelling size and higher and higher pre-surgery TSH values. ..
- Gebreel A. In pursuit of a better quality of life through the Basic Minimum Needs Programme: the Afghan experience. Ann Trop Med Parasitol. 1997;91:755-62 pubmed..The paper gives an exposé of the set of potential interventions and solutions chosen by the community to solve their problems. ..
- Hammad M, Atta K, Manzoor M, Tariq M, Saeed Z, Masood Z, et al. Association of passive smoking with respiratory symptoms and clinical correlates, among married women, in a rural community in Islamabad. J Pak Med Assoc. 2010;60:601-4 pubmed..012). Passive smoking was found to be associated with respiratory symptoms among married women in this study. Higher pulse rate was associated with passive smoking. ..
- Pasha Q, Malik S, Shaheen N, Shah M. Comparison of trace elements in the scalp hair of malignant and benign breast lesions versus healthy women. Biol Trace Elem Res. 2010;134:160-73 pubmed publisher..Multivariate cluster analysis also revealed divergent clustering of the elements in the scalp hair of malignant and benign patients in comparison with the healthy women. ..
- Ghani E, Zaidi G, Nadeem M, Rehman L, Noman M, Khaleeq Uz Zaman -. Role of cerebrospinal fluid diversion in posterior fossa tumor surgery. J Coll Physicians Surg Pak. 2003;13:333-6 pubmed..To assess the role of cerebrospinal fluid diversion in posterior fossa tumor surgery...
- Khokhar N, Gill M. Tropical sprue: revisited. J Pak Med Assoc. 2004;54:133-4 pubmed..Tropical sprue presents with diarrhea, anorexia, weight loss, and megaloblastic anemia. The partial villous atrophy has been a constant finding. The response to treatment to tetracycline and folic acid has been uniformly successful. ..
- Rabbani M, Amir M, Malik M, Mufti M, Bin Pervez M, Iftekhar S. Tympanic temperature comparison with oral mercury thermometer readings in an OPD setting. J Coll Physicians Surg Pak. 2010;20:33-6 pubmed publisher..To observe and compare the Tympanic Temperature (TT) readings with the Oral Mercury Thermometer (OMT) in an OPD setting...
- Mackay D, Borman A, Sui R, van den Born L, Berson E, Ocaka L, et al. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Hum Mutat. 2013;34:1537-1546 pubmed publisher..Some patients have remaining foveal cone structures (intact IS/OS junctions on OCT imaging) and remaining visual acuities, which may bode well for upcoming treatment trials. ..
- Farhat K, Iqbal J, Waheed A, Mansoor Q, Ismail M, Pasha A. Association of Anti-Emetic Efficacy of Ondansetron with G2677T Polymorphism in a Drug Transporter Gene ABCB1 in Pakistani Population. J Coll Physicians Surg Pak. 2015;25:486-90 pubmed publisher..001). The patients with GG genotypes had significantly higher incidence of this complaint (p=0.014). Polymorphism of ABCB1 has an association with responsiveness for ondansetron. There is a role for genetics in the management of PONV. ..
- Aamir S, Aisha -. Co-morbid anxiety and depression among pulmonary tuberculosis patients. J Coll Physicians Surg Pak. 2010;20:703-4 pubmed publisher..Fourteen (22%) TB patients with co-morbid anxiety and depression showed multi drug-resistance (MDR-TB)...
- Ahmad T, Afzal M. Assessment of differential leukocyte count in patients with acute coronary syndrome. J Pak Med Assoc. 2010;60:548-51 pubmed..301, p < 0.0001). The increase in monocyte count is an independent predictor of death and prognostic marker of the extent of myocardial damage in patients with ACS. ..
- Mahboob U, Mazhar S. Role of Kleihauer test in Rhesus negative pregnancy. J Coll Physicians Surg Pak. 2006;16:120-3 pubmed..Therefore, Kleihauer test with added burden of cost is not indicated as a routine to rhesus negative women. ..
- Micheal S, Qamar R, Akhtar F, Khan M, Khan W, Ahmed A. MTHFR gene C677T and A1298C polymorphisms and homocysteine levels in primary open angle and primary closed angle glaucoma. Mol Vis. 2009;15:2268-78 pubmed..The TT and AC genotypes of MTHFR C677T and A1298C polymorphisms and the combined genotype TTAC were associated with PCAG in Punjabi subjects of Pakistani origin and correlated with the high serum tHcy levels seen in these patients. ..
- Tariq N, Ayub R, Jaffery T, Rahim F, Naseem F, Kamal M. Efficacy of levonorgestrel intrauterine system (LNG-IUS) for abnormal uterine bleeding and contraception. J Coll Physicians Surg Pak. 2011;21:210-3 pubmed publisher..LNG-IUS is an effective and acceptable treatment for abnormal uterine bleeding as well as for contraception. Vaginal spotting was the most frequent side effect experienced by both groups. ..
- Ishtiaq O, Qadri A, Mehar S, Gondal G, Iqbal T, Ali S, et al. Disposal of syringes, needles, and lancets used by diabetic patients in Pakistan. J Infect Public Health. 2012;5:182-8 pubmed publisher..The common disposal of sharps in the household garbage has implications for disease transmission. Education on the safe disposal of sharps may improve the disposal practices. ..
- Saaiq M, Iqbal T. Report: Fatal toxic epidermal necrolysis induced by sodium valproate. Pak J Pharm Sci. 2013;26:637-9 pubmed..Despite all therapeutic measures the patient kept on deteriorating and developed multi-organ failure with pneumonia. He died on 7th day of hospitalization. ..
- Rahman A, Creed F. Outcome of prenatal depression and risk factors associated with persistence in the first postnatal year: prospective study from Rawalpindi, Pakistan. J Affect Disord. 2007;100:115-21 pubmed..This study highlights the need for developing mechanisms of early identification and suitable psychosocial interventions to minimise the damaging effects of persistent postnatal depression in poor communities. ..
- Ayub R, Tariq N, Adil M, Iqbal M, Junaid A, Jaferry T. Efficacy and safety of total dose infusion of low molecular weight iron dextran in the treatment of iron deficiency anemia during pregnancy. J Coll Physicians Surg Pak. 2008;18:424-7 pubmed publisher..We conclude that the total parenteral iron replacement with low molecular weight iron dextran is an effective and safe method for the treatment of iron deficiency anemia in a selected group of pregnant women. ..
- Nazir M, Kayani M, Malik F, Masood N, Kayani M. Lack of germ line changes in KISS1 and KAI1 genes in sporadic head and neck cancer patients of Pakistani origin. Asian Pac J Cancer Prev. 2011;12:2767-71 pubmed..A detailed analysis of regulatory mechanism is required to explore the genetic basis of down regulation of these MSGs for a better understanding of head and neck cancer progression. ..
- Fatima I, Zaidi J, Arif M, Tahir S. Measurement of natural radioactivity in bottled drinking water in Pakistan and consequent dose estimates. Radiat Prot Dosimetry. 2007;123:234-40 pubmed..1 mSv y(-1) as well as the average radiation dose of 0.29 mSv y(-1) received per head worldwide due to ingestion of natural radionuclides assessed by UNSCEAR (2000)...
- Rehman S, Saba N, Khalilullah -, Munir S, Ahmed P, Mehmood T. The frequency of HLA class I and II alleles in Pakistani patients with aplastic anemia. Immunol Invest. 2009;38:812-9 pubmed publisher..Three haplotypes A*02 B*40 DRB1*15 (p = 0.021), A*31 B*51 DRB1*13 (p = 0.12) and A*33 B*58 DRB1*15 (p = 0.000) showed significant variations in the two groups. ..
- Hussain S, Asghar M, Javed Q. Resistin gene promoter region polymorphism and the risk of hypertrophic cardiomyopathy in patients. Transl Res. 2010;155:142-7 pubmed publisher..Our data suggest that the elevated resistin levels and the RETN -420 C > G polymorphism may be associated with cardiac hypertrophy in the study population. ..
- Akhtar N, Adil M, Ahmed W, Habib ur Rehman -, Shahs M. The role of leukocyte counts in patients with unstable angina pectoris or myocardial infarction; prognostic significance and correlation with plasma brain natriuretic peptide (BNP) levels. J Pak Med Assoc. 2011;61:51-4 pubmed..Although there is a trend of increased Leukocyte count noted in patients with increase BNP level. This finding necessitates further studies to elucidate its accurate significance. ..
- Ajmal M, Khan M, Micheal S, Ahmed W, Shah A, Venselaar H, et al. Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa. Mol Vis. 2012;18:1226-37 pubmed..Homozygosity mapping, combined with candidate-gene analysis, successfully identified genetic defects in TULP1 in two large Pakistani families with early-onset retinitis pigmentosa. ..
- Micheal S, Khan M, Akhtar F, Weiss M, Islam F, Ali M, et al. Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome. Mol Vis. 2012;18:1918-26 pubmed..To describe a novel mutation in the fibrillin-1 (FBN1) gene in a large Pakistani family with autosomal dominant Marfan syndrome (MFS)...
- Bashir S. HIV/AIDS stigma at the workplace: exploratory findings from Pakistan. SAHARA J. 2011;8:156-61 pubmed publisher..There is a need at governmental and organisational level as well to increase awareness about the disease and formulate policies to reduce stigma against PLHA working in different organisations. ..
- Faryal R, Noreen Z, Tahir F, Rehman Z. Report: seroprevalence of corynebacterium diphtheriae among vaccinated population of Rawalpindi/Islamabad, Pakistan. Pak J Pharm Sci. 2013;26:649-51 pubmed..024) and above 30 years (p=0.0064). The present results emphasize the need for periodical booster immunization in adolescents and adults, after primary childhood immunization. ..
- Abbasi A, Khan M, Khan N, Shah M. Ethnobotanical survey of medicinally important wild edible fruits species used by tribal communities of Lesser Himalayas-Pakistan. J Ethnopharmacol. 2013;148:528-36 pubmed publisher..Further investigation is required for Antioxidant study, essential and toxic components, pharmacological applications; dietary requirements and biotechnological techniques to improve yields. ..
- Mehmood S, Jan A, Muhammad D, Ahmad F, Mir H, Younus M, et al. Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair. Australas J Dermatol. 2015;56:e66-70 pubmed publisher..2. Subsequently, sequencing LIPH identified a novel non-sense mutation (c.328C>T; p.Arg110*) in one and a previously reported 2-bp deletion mutation (c.659_660delTA, p.Ile220ArgfsX29) in three other families. ..
- Mumtaz Z, Levay A, Jhangri G, Bhatti A. Coverage of private sector community midwife services in rural Punjab, Pakistan: development and demand. Health Res Policy Syst. 2015;13 Suppl 1:51 pubmed publisher..To ensure universal coverage, there is a need to revisit the strategy of introducing a new midwifery workforce in the private sector in contexts of low demand and marketing the benefits of skilled birth attendance. ..
- Khaliq S, Abid A, Hameed A, Anwar K, Mohyuddin A, Azmat Z, et al. Mutation screening of Pakistani families with congenital eye disorders. Exp Eye Res. 2003;76:343-8 pubmed..These sequence changes are unique for the Pakistani families and some of these have not been reported previously. ..
- Ismail M, Akhtar N, Nasir M, Firasat S, Ayub Q, Khaliq S. Association between the angiotensin-converting enzyme gene insertion/deletion polymorphism and essential hypertension in young Pakistani patients. J Biochem Mol Biol. 2004;37:552-5 pubmed..672; P = 0.413). The association between the ACE I/I genotype and essential hypertension in individuals aged </= 40 years suggests that ACE has a role in early onset essential hypertension in Pakistan. ..
- Hassan M, Khurshid M, Azeem Z, John P, Ali G, Chishti M, et al. Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly. BMC Med Genet. 2007;8:58 pubmed
- Gul A, Tariq M, Khan M, Hassan M, Ali G, Ahmad W. Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly. J Neurogenet. 2007;21:153-63 pubmed..The degree of mental retardation in the affected individuals of the seven families varied from mild to moderate, and was not dependent on the location of mutations in the ASPM gene. ..
- Kousar R, Nawaz H, Khurshid M, Ali G, Khan S, Mir H, et al. Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly. J Child Neurol. 2010;25:715-20 pubmed publisher..1260delTCAAGTC/p.S420SfsX32; c.9159delA/p.K3053NfsX4) were also detected in 11 families. These identified mutations extended the body of evidence implicating the ASPM gene in the pathogenesis of human hereditary primary microcephaly. ..
- Ali L, Mansoor A, Ahmad N, Siddiqi S, Mazhar K, Muazzam A, et al. Patient HLA-DRB1* and -DQB1* allele and haplotype association with hepatitis C virus persistence and clearance. J Gen Virol. 2010;91:1931-8 pubmed publisher..These associations of HLA with HCV persistence or clearance will be beneficial in deciding the therapeutic regimen for Pakistani patients infected with HCV genotype 3a. ..
- Basit S, Ali G, Wasif N, Ansar M, Ahmad W. Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes. Hum Genet. 2010;128:213-20 pubmed publisher..59 Mb according to the sequence-based physical map (Build 36.2). Mutation analysis of five potential candidate genes (GNA12, FOXK1, DAGLB, ZNF12, ACTB), located in the linkage interval, did not reveal any functional sequence variant...
- Mahjabeen I, Baig R, Masood N, Sabir M, Inayat U, Malik F, et al. Genetic variations in XRCC1 gene in sporadic head and neck cancer (HNC) patients. Pathol Oncol Res. 2013;19:183-8 pubmed publisher..To our knowledge, this is the first report that XRCC1 is associated with increased risk of head and neck cancer in a Pakistani population...
- Rehman S, Akhtar N, Saba N, Munir S, Ahmed W, Mohyuddin A, et al. A study on the association of TNF-?(-308), IL-6(-174), IL-10(-1082) and IL-1Ra(VNTR) gene polymorphisms with rheumatic heart disease in Pakistani patients. Cytokine. 2013;61:527-31 pubmed publisher..These individuals could be provided aggressive prophylactic intervention to prevent the morbidity and mortality associated with RHD. ..
- Ajmal M, Khan M, Neveling K, Tayyab A, Jaffar S, Sadeque A, et al. Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome. Mol Vis. 2013;19:644-53 pubmed..In addition, intrafamilial phenotypic variability in family A argues for the modifying effect of other still unknown modifier alleles. ..
- Seco C, Giese A, Shafique S, Schraders M, Oonk A, Grossheim M, et al. Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. Eur J Hum Genet. 2016;24:542-9 pubmed publisher..272T>C variant in one Pakistani family is remarkably less severe than that in all other families with this mutation. Our results contribute to the insight in genotype-phenotype correlations of CIB2 mutations. ..
- Lodhi A, Hashmi I, Nasir H, Khan R. Effect of trihalomethanes (chloroform and bromoform) on human haematological count. J Water Health. 2017;15:367-373 pubmed publisher..It also significantly damaged platelet level at doses of 30 (p < 0.05) and 50 ?g/mL (p < 0.01). Conversely, the damage caused by chloroform was statistically less significant (p > 0.05). ..
- Mir A, Kaufman L, Noor A, Motazacker M, Jamil T, Azam M, et al. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. Am J Hum Genet. 2009;85:909-15 pubmed publisher..Microcephaly is present in some but not all affected individuals. Thus, to our knowledge, this is the sixth gene for NS-ARMR to be discovered. ..
- Ulvi O, Chaudhary R, Ali T, Alvi R, Khan M, Khan M, et al. Investigating the awareness level about diabetes mellitus and associated factors in Tarlai (rural Islamabad). J Pak Med Assoc. 2009;59:798-801 pubmed..46). Majority of adults were unaware of Diabetes Mellitus itself and associated risk factors. Raising public awareness of the disease through outreach programmes and mass media should be planned and implemented. ..
- Khan M, Micheal S, Akhtar F, Ahmed W, Ijaz B, Ahmed A, et al. The association of glutathione S-transferase GSTT1 and GSTM1 gene polymorphism with pseudoexfoliative glaucoma in a Pakistani population. Mol Vis. 2010;16:2146-52 pubmed..05). The results suggest that there is a significant involvement of the GSTT1 and GSTM1 polymorphisms in female Pakistani patients having PEXG, which suggests a possible gender-specific impairment of detoxification in this group. ..
- Naz G, Pasternack S, Perrin C, Mattheisen M, Refke M, Khan S, et al. FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. Br J Dermatol. 2012;166:1088-94 pubmed publisher..The present results emphasize the important role of the Wnt pathways in nail development and increase understanding of Wnt-mediated developmental events in general. ..
- Roth G, Johnson C, Abajobir A, Abd Allah F, Abera S, Abyu G, et al. Global, Regional, and National Burden of Cardiovascular Diseases for 10 Causes, 1990 to 2015. J Am Coll Cardiol. 2017;70:1-25 pubmed publisher..Future updates of the GBD study can be used to guide policymakers who are focused on reducing the overall burden of noncommunicable disease and achieving specific global health targets for CVD. ..
- Arbab M, Tahir S, Niazi M, Ishaq M, Hussain A, Siddique P, et al. TNF-Î± Genetic Predisposition and Higher Expression of Inflammatory Pathway Components in Keratoconus. Invest Ophthalmol Vis Sci. 2017;58:3481-3487 pubmed publisher..Moreover, this single nucleotide polymorphism (SNP) was observed to be associated with deregulated expression of downstream molecules, thus further reinforcing the role of the inflammatory pathway components in the development of KC. ..
- Rab M, al Rustamani L, Bhutta R, Mahmood M, Evans D. Cutaneous leishmaniasis: iso-enzyme characterisation of Leishmania tropica. J Pak Med Assoc. 1997;47:270-3 pubmed..The study confirms the presence of anthroponotic Cutaneous Leishamaniasis caused by L. Tropica in Pakistan...
- Azam M, Collin R, Khan M, Shah S, Qureshi N, Ajmal M, et al. A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family. Mol Vis. 2009;15:1788-93 pubmed..This is the first report to describe a mutation causing typical Oguchi disease in a large consanguineous Pakistani family. This mutation segregated in eight affected members. ..
- Amir M, Rabbani M, Parvez M. Informed consent in elective surgical procedures: "what do the patients think"?. J Pak Med Assoc. 2009;59:679-82 pubmed..However, majority of the people still feel satisfied with the information provided. There is a unique family system where decision-making is shared within the family. ..
- Haq A. Hyperreactio luteinalis associated with pregnancy induced hypertension. J Coll Physicians Surg Pak. 2010;20:137-9 pubmed publisher..Multiple tissue biopsies of the ovaries were taken which showed theca leutein cysts. Her postoperative recovery was uneventful. The size of the cysts subsequently regressed to normal in 3 months postpartum. ..
- Qureshi A, Abid K. Frequency of catheter related infections in haemodialysed uraemic patients. J Pak Med Assoc. 2010;60:671-5 pubmed..To investigate the incidence of bacteraemia and bacterial colonization related to the use of dual-lumen catheters in ESRD patients on haemodialysis...