To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutat... more To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation. 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. 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.1304A>C was found to be segregating with th...
Journal of the College of Physicians and Surgeons Pakistan Jcpsp, 2003
To analyze the spectrum of Non-Hodgkin&am... more To analyze the spectrum of Non-Hodgkin's Lymphomas (NHL) presenting as skin lesions and to see the histological type, age, sex incidence and site predilection of different types of NHLs and to correlate our findings with western published data. A retrospective descriptive case series study. All NHLs (nodal and extra nodal) diagnosed between January 1991-December 2001 in the section of Histopathology, Department of Pathology, The Aga Khan University, Karachi were retrieved by using SNOMED coding system. Cases were reviewed and those presenting with skin involvement were selected. Further characterization of these tumours was done by morphology and Immunohistochemistry. Panel of antibodies included leukocyte common antigen (CD45), Pan B markers (CD20 and CD 79a), Pan T markers(UCHL1), Ki-1(CD30) and epithelial membrane antigen (EMA). The total number of NHLs (nodal and extra nodal) diagnosed in our department during the study period of 10 years were 1610. Out of these, 133 cases (8.26%) of NHLs presented with skin involvement. Out of these 44.4% (n=59) were NHLs of B cell phenotype while 23.3% (n=31) cases were of T cell phenotype. Out of 133 cases, 14(10.5%) were of mycosis fungoides (MF), and 3 (2%) each were of anaplastic large cell lymphoma (ALCL:Ki-1), lymphoma and lymphoblastic lymphoma/leukemia. In 17.3% (n=23) cases the phenotype could not be ascertained. There were 97(73%) males and 36(27%) females with a M:F ratio of 2.7:1. All types of NHLs showed a site predilection for the head and neck region except MF which presented mainly as generalized body lesions. NHLs presenting as skin lesions are more commonly of B cell phenotype followed by T cell phenotype (NOS) and mycosis fungoides. Probable reasons for the high frequency of cutaneous involvement by B-cell NHL are the advanced nature of the disease at the time of presentation and biological behavior of the tumors in our population.
This communication describes the mechanical properties of the single yarn polyester composite (PC... more This communication describes the mechanical properties of the single yarn polyester composite (PC) of cotton fiber with special reference to the effect of unevenness in the structure of yarn. Unevenness % (U) and coefficient of variation (CV) in mass of spun yarn were measured. Scanning electron microscopy was carried out to understand the effect of unevenness on physical structure of fibers in the yarn which affect not only the mechanical properties of yarn but also the composites reinforced with them. Results also showed that decrease in 2.15 % of U in the yarn structure causes an increase of 25.18% in ultimate stress and 30.71% decrease in stiffness of composites.
We examined the possible effect of different box materials in relation to time interval on the ma... more We examined the possible effect of different box materials in relation to time interval on the mating of European bumblebee, Bombus terrestris under controlled environmental conditions. The lowest rate of mating was found in wooden box with mean of 49% pairs and the highest mating tendency was found in polycarbonate box. Further in relation to time interval, during the first minutes of introduction of queens and males in mating cage, significant difference between all three boxes showed the highest mating rate within first minutes in polycarbonate box. Similarly, during the five minutes of time interval from introduction, mating tendency was high in polycarbonate box which was 1-2 fold higher from iron mesh box and wooden box. During the time elapse of fifteen minutes of introduction of queens and males in the mating cage, there existed no significant difference between the polycarbonate box and iron mesh box but significantly different in wooden box. Such important abiotic affect o...
Prevalence and floral host plant range of indigenous Bombus pollinators are considered to be impo... more Prevalence and floral host plant range of indigenous Bombus pollinators are considered to be important alternatives than the imported species. Commercial enclosed farming has increased the use of the bumblebees as economically important pollinators for high economic return and offseason crops. Indigenous bumblebee species has been considered important to rear and use for such pollination services than imported bumblebees to avoid possible environmental and pest problems. Bombus haemorrhoidalis Smith, the only bumblebee species of this region, was collected at monthly interval from different non-agricultural and agricultural flora of Margalla and Murree hills of Pakistan during 2011-12. Plant species for floral host plant resources, variation in seasonal population and distribution with different climatic regions of this indigenous bumblebee were observed. Twenty four plant species of thirteen plant families were found as floral host plants visited for nectar and pollens with seven n...
To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutat... more To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation. 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. 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.1304A>C was found to be segregating with th...
Journal of the College of Physicians and Surgeons Pakistan Jcpsp, 2003
To analyze the spectrum of Non-Hodgkin&am... more To analyze the spectrum of Non-Hodgkin's Lymphomas (NHL) presenting as skin lesions and to see the histological type, age, sex incidence and site predilection of different types of NHLs and to correlate our findings with western published data. A retrospective descriptive case series study. All NHLs (nodal and extra nodal) diagnosed between January 1991-December 2001 in the section of Histopathology, Department of Pathology, The Aga Khan University, Karachi were retrieved by using SNOMED coding system. Cases were reviewed and those presenting with skin involvement were selected. Further characterization of these tumours was done by morphology and Immunohistochemistry. Panel of antibodies included leukocyte common antigen (CD45), Pan B markers (CD20 and CD 79a), Pan T markers(UCHL1), Ki-1(CD30) and epithelial membrane antigen (EMA). The total number of NHLs (nodal and extra nodal) diagnosed in our department during the study period of 10 years were 1610. Out of these, 133 cases (8.26%) of NHLs presented with skin involvement. Out of these 44.4% (n=59) were NHLs of B cell phenotype while 23.3% (n=31) cases were of T cell phenotype. Out of 133 cases, 14(10.5%) were of mycosis fungoides (MF), and 3 (2%) each were of anaplastic large cell lymphoma (ALCL:Ki-1), lymphoma and lymphoblastic lymphoma/leukemia. In 17.3% (n=23) cases the phenotype could not be ascertained. There were 97(73%) males and 36(27%) females with a M:F ratio of 2.7:1. All types of NHLs showed a site predilection for the head and neck region except MF which presented mainly as generalized body lesions. NHLs presenting as skin lesions are more commonly of B cell phenotype followed by T cell phenotype (NOS) and mycosis fungoides. Probable reasons for the high frequency of cutaneous involvement by B-cell NHL are the advanced nature of the disease at the time of presentation and biological behavior of the tumors in our population.
This communication describes the mechanical properties of the single yarn polyester composite (PC... more This communication describes the mechanical properties of the single yarn polyester composite (PC) of cotton fiber with special reference to the effect of unevenness in the structure of yarn. Unevenness % (U) and coefficient of variation (CV) in mass of spun yarn were measured. Scanning electron microscopy was carried out to understand the effect of unevenness on physical structure of fibers in the yarn which affect not only the mechanical properties of yarn but also the composites reinforced with them. Results also showed that decrease in 2.15 % of U in the yarn structure causes an increase of 25.18% in ultimate stress and 30.71% decrease in stiffness of composites.
We examined the possible effect of different box materials in relation to time interval on the ma... more We examined the possible effect of different box materials in relation to time interval on the mating of European bumblebee, Bombus terrestris under controlled environmental conditions. The lowest rate of mating was found in wooden box with mean of 49% pairs and the highest mating tendency was found in polycarbonate box. Further in relation to time interval, during the first minutes of introduction of queens and males in mating cage, significant difference between all three boxes showed the highest mating rate within first minutes in polycarbonate box. Similarly, during the five minutes of time interval from introduction, mating tendency was high in polycarbonate box which was 1-2 fold higher from iron mesh box and wooden box. During the time elapse of fifteen minutes of introduction of queens and males in the mating cage, there existed no significant difference between the polycarbonate box and iron mesh box but significantly different in wooden box. Such important abiotic affect o...
Prevalence and floral host plant range of indigenous Bombus pollinators are considered to be impo... more Prevalence and floral host plant range of indigenous Bombus pollinators are considered to be important alternatives than the imported species. Commercial enclosed farming has increased the use of the bumblebees as economically important pollinators for high economic return and offseason crops. Indigenous bumblebee species has been considered important to rear and use for such pollination services than imported bumblebees to avoid possible environmental and pest problems. Bombus haemorrhoidalis Smith, the only bumblebee species of this region, was collected at monthly interval from different non-agricultural and agricultural flora of Margalla and Murree hills of Pakistan during 2011-12. Plant species for floral host plant resources, variation in seasonal population and distribution with different climatic regions of this indigenous bumblebee were observed. Twenty four plant species of thirteen plant families were found as floral host plants visited for nectar and pollens with seven n...
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