Through washability study, a couple of parameters were investigated for a low volatile Pakistani Coal (coking). The aim was to find out the effect of the action of reducing material release characteristics for low vol...Through washability study, a couple of parameters were investigated for a low volatile Pakistani Coal (coking). The aim was to find out the effect of the action of reducing material release characteristics for low volatile Pakistani coal. The “Index of washability” (IW) and “Near gravity material Index” (NGMI) were used as parameters to express the ease of washability. Run of Mine coal is crushed to four different sizes as mentioned 80 mm, 30 mm, 18 mm and 11 mm in a pestle and mortar. Calculations of IW show that it is inversely proportional to top size of feed, indicating that washability increases with the decrease of size. From NGMI calculations it was concluded that gravity method is not recommended for separation at this specific gravity range. So study divulges that the critical specific gravity for crushing to 30 mm is 1.67 and for 11 mm is 1.56.展开更多
Dear Sir,Iam Haiba Kaul,from the Department of Biochemistry,University of Health Sciences,Lahore,Pakistan.I write to present a study of oculocutaneous albinism(OCA)in consanguineous Pakistani families.OCA is a genet...Dear Sir,Iam Haiba Kaul,from the Department of Biochemistry,University of Health Sciences,Lahore,Pakistan.I write to present a study of oculocutaneous albinism(OCA)in consanguineous Pakistani families.OCA is a genetic defect of melanin biosynthesis that mainly affects eyes,skin and hair.展开更多
For the development of 19-plex Y STR system and polymorphism studies in local ethnic populations sixteen markers of non-recombining regions (NRY) of Y chromosome, which show high power of discrimination among individu...For the development of 19-plex Y STR system and polymorphism studies in local ethnic populations sixteen markers of non-recombining regions (NRY) of Y chromosome, which show high power of discrimination among individuals, were selected in this study. Blood samples (600) were collected from the males of three most common castes of Pakistani population (Arain, Awan and Rajput) with different parent lineages. Three markers (DYS385a/b, DYS389I/II and YCAIIa/b) among 16 Y STRs are double-targeted regions of the Y chromosome and thus provide two polymorphic peaks for each respective primer set. These 16 Y-STRs were developed into Megaplex system for simultaneous amplification of all markers within the population. The overall power of discrimination observed in focused populations was 60.5%, 66.5% and 55% in Rajput, Awan and Arain casts respectively. This discrimination power will be helpful in human identification for forensic casework studies including sexual assaults and paternity testing.展开更多
AIM: To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation.· METHODS: A consanguineous Pakistani fa...AIM: To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation.· METHODS: A consanguineous Pakistani family in which Usher phenotype was segregating as an autosomal recessive trait was ascertained. On the basis of results of clinical investigations of affected members of this family disease was diagnosed as Usher syndrome(USH). To identify the locus responsible for the Usher phenotype in this family, genomic DNA from blood sample of each individual was genotyped using microsatellite Short Tandem Repeat(STR) markers for the known Usher syndrome loci. Then direct sequencing was performed to find out disease associated mutations in the candidate gene.· RESULTS: By genetic linkage analysis, the USH phenotype of this family was mapped to PCDH15 locus on chromosome 10q21.1. Three different point mutations in exon 11 of PCDH15 were identified and one of them,c.1304AC was found to be segregating with the disease phenotype in Pakistani family with Usher phenotype.This, c.1304 A C transversion mutation predicts an amino-acid substitution of aspartic acid with an alanine at residue number 435(p.D435A) of its protein product.Moreover, in silico analysis revealed conservation of aspartic acid at position 435 and predicated this change as pathogenic.·CONCLUSION:Theidentificationofc.1304ACpathogenic mutation in PCDH15 gene and its association with Usher syndrome in a consanguineous Pakistani family is thefirst example of a missense mutation of PCDH15 causing USH1 phenotype. In previous reports, it was hypothesized that severe mutations such as truncated protein of PCDH15 led to the Usher I phenotype and that missense variants are mainly responsible for non-syndromic hearing impairment.展开更多
Exposure to toxic chemicals appears to be one of the major factors in the onset of Schizophrenia. Present study was designed to find out the association of socio-economic, clinical and heavy metals such as chromium (C...Exposure to toxic chemicals appears to be one of the major factors in the onset of Schizophrenia. Present study was designed to find out the association of socio-economic, clinical and heavy metals such as chromium (Cr), lead (Pb) copper (Cu), zinc (Zn), iron (Fe), manganese (Mn) selenium (Se) and arsenic (As) as the principle environmental factors that appear to impact schizophrenic condition in Pakistani population. In this study we have tried to expose some factors such as drug abuse, marital status, education, monthly income that could be related to the disease. These parameters were not investigated before in Pakistani subjects. A self-made questionnaire was developed to collect and record the history of patient’s social and economical status. The level of transition metals in the whole blood was also measured by using Inductive couple plasma optical emission spectroscopy (ICP-OES). Present study has found higher levels of Cr, Pb, Zn, Se, As and Cu and lower levels of Fe and Mn in the blood of newly diagnosed (ND) patients when compared to the controls. While comparing ND with the patients who were on medication (Old Diagnosed) we, found lower level of these metals except for copper in ND. However no significant differences were observed between any trace metal levels between the studied groups. The survey concludes that economic status, marital status and illegal drugs are significantly associated with schizophrenia. Pakistani men who use cannabis are significantly higher in numbers when compared to women in acquiring the psychiatric symptoms.展开更多
Locally Advance Breast Cancer refers to a heterogeneous group of breast cancer with locally extensive disease, which may or may not involve the nodes, without any distant metastases. The study was conducted at Faisala...Locally Advance Breast Cancer refers to a heterogeneous group of breast cancer with locally extensive disease, which may or may not involve the nodes, without any distant metastases. The study was conducted at Faisalabad Medical University (FMU), Oncology, Allied Hospital Faisalabad (Pakistan). Data of 100 patients with LABC was collected. Demographics were recorded in the form of age, socio-economic status. In clinical data, time of presentation, family history of breast cancer, the presenting symptom in the form of lump, ulceration and other skin changes were noted. Histo-pathological variables including tumor size, histopathology, Bloom & Richardson grading, estrogen receptor (ER), progesterone receptor status (PR) and HER2 status. Results showed that after following a standard trimodality treatment approach in LABC patients, 30 percent died within two years. Disease free survival for more than two years was observed in only 25% of patients. Whereas, 70% patients had eventful (Recurrence/metastases) survival. This poor outcome was observed due to lack of health care facilities, awareness and poor socioeconomic status.展开更多
AIM:To investigate the genetic basis of autosomal recessive retinitis pigmentosa(arRP)in two consanguineous/endogamous Pakistani families.METHODS:Whole exome sequencing(WES)was performed on genomic DNA samples of pati...AIM:To investigate the genetic basis of autosomal recessive retinitis pigmentosa(arRP)in two consanguineous/endogamous Pakistani families.METHODS:Whole exome sequencing(WES)was performed on genomic DNA samples of patients with arRP to identify disease causing mutations.Sanger sequencing was performed to confirm familial segregation of identified mutations,and potential pathogenicity was determined by predictions of the mutations’functions.RESULTS:A novel homozygous frameshift mutation[NM_000440.2:c.1054delG,p.(Gln352Argfs*4);Chr5:g.149286886del(GRCh37)]in the PDE6A gene in an endogamous family and a novel homozygous splice site mutation[NM_033100.3:c.1168-1G>A,Chr10:g.85968484G>A(GRCh37)]in the CDHR1 gene in a consanguineous family were identified.The PDE6A variant p.(Gln352Argfs*4)was predicted to be deleterious or pathogenic,whilst the CDHR1 variant c.1168-1G>A was predicted to result in potential alteration of splicing.CONCLUSION:This study expands the spectrum of genetic variants for arRP in Pakistani families.展开更多
Pakistan is a typical English-speaking country in south Asia. However, the data of Pakistan English is extremely rare. If one wants to grasp the English features in south Asia and try to find the similarities among di...Pakistan is a typical English-speaking country in south Asia. However, the data of Pakistan English is extremely rare. If one wants to grasp the English features in south Asia and try to find the similarities among different languages, he should know something about Pakistani English.In this paper, the background information about Pakistan will be mentioned as well as the English situation in this country,including English education, English problems, pronunciation features, and Pakistani literature.展开更多
Dear Editor,I have carefully read the article entitled "Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene",published by Shakil et al in 2016 and found...Dear Editor,I have carefully read the article entitled "Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene",published by Shakil et al in 2016 and found it very interesting for the scientific community.展开更多
文摘Through washability study, a couple of parameters were investigated for a low volatile Pakistani Coal (coking). The aim was to find out the effect of the action of reducing material release characteristics for low volatile Pakistani coal. The “Index of washability” (IW) and “Near gravity material Index” (NGMI) were used as parameters to express the ease of washability. Run of Mine coal is crushed to four different sizes as mentioned 80 mm, 30 mm, 18 mm and 11 mm in a pestle and mortar. Calculations of IW show that it is inversely proportional to top size of feed, indicating that washability increases with the decrease of size. From NGMI calculations it was concluded that gravity method is not recommended for separation at this specific gravity range. So study divulges that the critical specific gravity for crushing to 30 mm is 1.67 and for 11 mm is 1.56.
基金Higher Education Commission (HEC) Islamabad, Pakistan for partly supporting this study
文摘Dear Sir,Iam Haiba Kaul,from the Department of Biochemistry,University of Health Sciences,Lahore,Pakistan.I write to present a study of oculocutaneous albinism(OCA)in consanguineous Pakistani families.OCA is a genetic defect of melanin biosynthesis that mainly affects eyes,skin and hair.
文摘For the development of 19-plex Y STR system and polymorphism studies in local ethnic populations sixteen markers of non-recombining regions (NRY) of Y chromosome, which show high power of discrimination among individuals, were selected in this study. Blood samples (600) were collected from the males of three most common castes of Pakistani population (Arain, Awan and Rajput) with different parent lineages. Three markers (DYS385a/b, DYS389I/II and YCAIIa/b) among 16 Y STRs are double-targeted regions of the Y chromosome and thus provide two polymorphic peaks for each respective primer set. These 16 Y-STRs were developed into Megaplex system for simultaneous amplification of all markers within the population. The overall power of discrimination observed in focused populations was 60.5%, 66.5% and 55% in Rajput, Awan and Arain casts respectively. This discrimination power will be helpful in human identification for forensic casework studies including sexual assaults and paternity testing.
基金Supported by the Kohat University of Science and Technology,Kohat,PakistanInstitute of Biomedical and Genetic Engineering,Islamabad,Pakistan
文摘AIM: To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation.· METHODS: A consanguineous Pakistani family in which Usher phenotype was segregating as an autosomal recessive trait was ascertained. On the basis of results of clinical investigations of affected members of this family disease was diagnosed as Usher syndrome(USH). To identify the locus responsible for the Usher phenotype in this family, genomic DNA from blood sample of each individual was genotyped using microsatellite Short Tandem Repeat(STR) markers for the known Usher syndrome loci. Then direct sequencing was performed to find out disease associated mutations in the candidate gene.· RESULTS: By genetic linkage analysis, the USH phenotype of this family was mapped to PCDH15 locus on chromosome 10q21.1. Three different point mutations in exon 11 of PCDH15 were identified and one of them,c.1304AC was found to be segregating with the disease phenotype in Pakistani family with Usher phenotype.This, c.1304 A C transversion mutation predicts an amino-acid substitution of aspartic acid with an alanine at residue number 435(p.D435A) of its protein product.Moreover, in silico analysis revealed conservation of aspartic acid at position 435 and predicated this change as pathogenic.·CONCLUSION:Theidentificationofc.1304ACpathogenic mutation in PCDH15 gene and its association with Usher syndrome in a consanguineous Pakistani family is thefirst example of a missense mutation of PCDH15 causing USH1 phenotype. In previous reports, it was hypothesized that severe mutations such as truncated protein of PCDH15 led to the Usher I phenotype and that missense variants are mainly responsible for non-syndromic hearing impairment.
文摘Exposure to toxic chemicals appears to be one of the major factors in the onset of Schizophrenia. Present study was designed to find out the association of socio-economic, clinical and heavy metals such as chromium (Cr), lead (Pb) copper (Cu), zinc (Zn), iron (Fe), manganese (Mn) selenium (Se) and arsenic (As) as the principle environmental factors that appear to impact schizophrenic condition in Pakistani population. In this study we have tried to expose some factors such as drug abuse, marital status, education, monthly income that could be related to the disease. These parameters were not investigated before in Pakistani subjects. A self-made questionnaire was developed to collect and record the history of patient’s social and economical status. The level of transition metals in the whole blood was also measured by using Inductive couple plasma optical emission spectroscopy (ICP-OES). Present study has found higher levels of Cr, Pb, Zn, Se, As and Cu and lower levels of Fe and Mn in the blood of newly diagnosed (ND) patients when compared to the controls. While comparing ND with the patients who were on medication (Old Diagnosed) we, found lower level of these metals except for copper in ND. However no significant differences were observed between any trace metal levels between the studied groups. The survey concludes that economic status, marital status and illegal drugs are significantly associated with schizophrenia. Pakistani men who use cannabis are significantly higher in numbers when compared to women in acquiring the psychiatric symptoms.
文摘Locally Advance Breast Cancer refers to a heterogeneous group of breast cancer with locally extensive disease, which may or may not involve the nodes, without any distant metastases. The study was conducted at Faisalabad Medical University (FMU), Oncology, Allied Hospital Faisalabad (Pakistan). Data of 100 patients with LABC was collected. Demographics were recorded in the form of age, socio-economic status. In clinical data, time of presentation, family history of breast cancer, the presenting symptom in the form of lump, ulceration and other skin changes were noted. Histo-pathological variables including tumor size, histopathology, Bloom & Richardson grading, estrogen receptor (ER), progesterone receptor status (PR) and HER2 status. Results showed that after following a standard trimodality treatment approach in LABC patients, 30 percent died within two years. Disease free survival for more than two years was observed in only 25% of patients. Whereas, 70% patients had eventful (Recurrence/metastases) survival. This poor outcome was observed due to lack of health care facilities, awareness and poor socioeconomic status.
基金the Kohat University of Science and Technology,Kohat,Pakistan and RILD Wellcome Wolfson Centre(Level 4),Royal Devon and Exeter NHS Foundation Trust,UK.
文摘AIM:To investigate the genetic basis of autosomal recessive retinitis pigmentosa(arRP)in two consanguineous/endogamous Pakistani families.METHODS:Whole exome sequencing(WES)was performed on genomic DNA samples of patients with arRP to identify disease causing mutations.Sanger sequencing was performed to confirm familial segregation of identified mutations,and potential pathogenicity was determined by predictions of the mutations’functions.RESULTS:A novel homozygous frameshift mutation[NM_000440.2:c.1054delG,p.(Gln352Argfs*4);Chr5:g.149286886del(GRCh37)]in the PDE6A gene in an endogamous family and a novel homozygous splice site mutation[NM_033100.3:c.1168-1G>A,Chr10:g.85968484G>A(GRCh37)]in the CDHR1 gene in a consanguineous family were identified.The PDE6A variant p.(Gln352Argfs*4)was predicted to be deleterious or pathogenic,whilst the CDHR1 variant c.1168-1G>A was predicted to result in potential alteration of splicing.CONCLUSION:This study expands the spectrum of genetic variants for arRP in Pakistani families.
文摘Pakistan is a typical English-speaking country in south Asia. However, the data of Pakistan English is extremely rare. If one wants to grasp the English features in south Asia and try to find the similarities among different languages, he should know something about Pakistani English.In this paper, the background information about Pakistan will be mentioned as well as the English situation in this country,including English education, English problems, pronunciation features, and Pakistani literature.
文摘Dear Editor,I have carefully read the article entitled "Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene",published by Shakil et al in 2016 and found it very interesting for the scientific community.