International Journal of Medical Research and Health Sciences, 2019
Objective: This kind of study was conducted first time in Pakistan. Its objective was to ascertai... more Objective: This kind of study was conducted first time in Pakistan. Its objective was to ascertain the associated clinical features and analyze the FANCA exon 28 and exon 29 mutations in Pakistani Fanconi anemia (FA) patients. Methods: A total of 38 patients with Fanconi anemia were recruited presenting in the Armed forces institute of pathology (AFIP) Rawalpindi Pakistan. They were enrolled in this study on the basis of comprehensive clinical evaluation and positive Diepoxybutane (DEB)/Mitomycin C Chromosomal breakage test. Genomic DNA was extracted from peripheral blood of patients and age and gender-matched controls. Mutation analysis of FANCA gene was done by conventional Polymerase chain reaction (PCR) and DNA sequencing. Various online tools and software were used for analysis of the obtained data and identification of the sequence alterations in FANCA gene in exon 28 and exon 29 of FA patients. Results and Discussion: The current study on screening of FANCA mutational analysi...
Immunological studies against ixodid ticks, Hyalomma anatolicum anatolicum (Linnaeus, 1758) were ... more Immunological studies against ixodid ticks, Hyalomma anatolicum anatolicum (Linnaeus, 1758) were conducted on six-month old domestic goat breed Capra hircus lehri, randomly selected from different farms of districts of Balochistan, Pakistan. Goats were allocated into four groups of twenty animals each for immunization experiments. Each group was used to assess the effect of immunization against ticks Hyalomma a. anatolicum by using extracts of attachment cones made up of cement proteins taken from mouthparts of tick whole instars as source of antigen. Effects of different antigen doses emulsified with different adjuvants were analyzed in four groups, each cohort comprising twenty goats. First group was immunized with alum adjuvant, second with Freund’s complete adjuvant (FCA), third with Incomplete Freund’s adjuvant (IFA) and fourth with Montanide ISA-50 (Incomplete Seppic) adjuvant. Goats administered with different doses (5-500 μg) of tick cement antigen emulsified with Montanide ...
Objectives: To identify the frequency and associated factors with respiratory illnesses in childr... more Objectives: To identify the frequency and associated factors with respiratory illnesses in children with cerebral palsy. Study Design: Cross-sectional study. Setting: Department of Paediatrics, Unit I. Sandeman Provincial Hospital, Quetta. Period: 8th May 2018 to 7th May, 2019. Material & Methods: was to determine frequency of hospital admissions due to respiratory illnesses and factors leading to respiratory illnesses in children with cerebral palsy. The study considered 207 patients who were suffering with cerebral palsy. Weight and height/length were taken. Chest was inspected for in drawing of ribs and respiratory rate was counted for a minute. CP child further investigated for having drooling of saliva, chewing difficulties, impaired speech, seizures, GERD, mode of food intake, scoliosis and malnutrition. Descriptive statistics were calculated. Stratification was done and post stratification Chi square test was applied considering p-value ≤0.05 as significant. Conclusion: Among...
Objectives: To observe the association between dyslipidemia and homocysteine level in epileptic p... more Objectives: To observe the association between dyslipidemia and homocysteine level in epileptic patients; especially on carbamazepine monotherapy. Study Design: Cross sectional study. Setting: Neurology Department and Epilepsy Centre of Jinnah Post Graduate Medical Centre, Karachi. Period: From January 2015 – January 2016. Material & Methods: Total 300 subjects, aged more than 15 years were included and divided into three groups. Group A (100 healthy individuals) was control group, Group B (100 newly diagnosed epileptic patients without antiepileptic therapy), Group C (100 epileptic patients on Carbamazepine therapy, which was further subdivided into C-I (n=33) had epileptic patients on Carbamazepine therapy less than 1 year, C-II (n=33) comprised of epileptic patients on Carbamazepine therapy 1-2 years and C-III (n=33) had epileptic patients on Carbamazepine therapy more than 2 years. Serum lipid profile and homocysteine levels were measured. Results: In patients with different du...
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2017
Fanconi anemia is a rare autosomal recessive disorder of genetic instability. It is both molecula... more Fanconi anemia is a rare autosomal recessive disorder of genetic instability. It is both molecularly and clinically, a heterogeneous disorder. Its incidence is 1 in 129,000 births and relatively high in some ethnic groups. Sixteen genes have been identified among them mutations in FANCG gene are most common after FANCA and FANCC gene mutations. To study mutations in exon 3 and 4 of FANCG gene in Pakistani population. Thirty five patients with positive Diepoxybutane test were included in the study. DNA was extracted and amplified for exons 3 and 4. Thereafter Sequencing was done and analyzed for the presence of mutations. No mutation was detected in exon 3 whereas a carrier of known mutation c.307+1 G>T was found in exon 4 of the FANCG gene. Absence of any mutation in exon 3 and only one heterozygous mutation in exon 4 of FANCG gene points to a different spectrum of FA gene pool in Pakistan that needs extensive research in this area.
International Journal of Medical Research and Health Sciences, 2019
Objective: This kind of study was conducted first time in Pakistan. Its objective was to ascertai... more Objective: This kind of study was conducted first time in Pakistan. Its objective was to ascertain the associated clinical features and analyze the FANCA exon 28 and exon 29 mutations in Pakistani Fanconi anemia (FA) patients. Methods: A total of 38 patients with Fanconi anemia were recruited presenting in the Armed forces institute of pathology (AFIP) Rawalpindi Pakistan. They were enrolled in this study on the basis of comprehensive clinical evaluation and positive Diepoxybutane (DEB)/Mitomycin C Chromosomal breakage test. Genomic DNA was extracted from peripheral blood of patients and age and gender-matched controls. Mutation analysis of FANCA gene was done by conventional Polymerase chain reaction (PCR) and DNA sequencing. Various online tools and software were used for analysis of the obtained data and identification of the sequence alterations in FANCA gene in exon 28 and exon 29 of FA patients. Results and Discussion: The current study on screening of FANCA mutational analysi...
Immunological studies against ixodid ticks, Hyalomma anatolicum anatolicum (Linnaeus, 1758) were ... more Immunological studies against ixodid ticks, Hyalomma anatolicum anatolicum (Linnaeus, 1758) were conducted on six-month old domestic goat breed Capra hircus lehri, randomly selected from different farms of districts of Balochistan, Pakistan. Goats were allocated into four groups of twenty animals each for immunization experiments. Each group was used to assess the effect of immunization against ticks Hyalomma a. anatolicum by using extracts of attachment cones made up of cement proteins taken from mouthparts of tick whole instars as source of antigen. Effects of different antigen doses emulsified with different adjuvants were analyzed in four groups, each cohort comprising twenty goats. First group was immunized with alum adjuvant, second with Freund’s complete adjuvant (FCA), third with Incomplete Freund’s adjuvant (IFA) and fourth with Montanide ISA-50 (Incomplete Seppic) adjuvant. Goats administered with different doses (5-500 μg) of tick cement antigen emulsified with Montanide ...
Objectives: To identify the frequency and associated factors with respiratory illnesses in childr... more Objectives: To identify the frequency and associated factors with respiratory illnesses in children with cerebral palsy. Study Design: Cross-sectional study. Setting: Department of Paediatrics, Unit I. Sandeman Provincial Hospital, Quetta. Period: 8th May 2018 to 7th May, 2019. Material & Methods: was to determine frequency of hospital admissions due to respiratory illnesses and factors leading to respiratory illnesses in children with cerebral palsy. The study considered 207 patients who were suffering with cerebral palsy. Weight and height/length were taken. Chest was inspected for in drawing of ribs and respiratory rate was counted for a minute. CP child further investigated for having drooling of saliva, chewing difficulties, impaired speech, seizures, GERD, mode of food intake, scoliosis and malnutrition. Descriptive statistics were calculated. Stratification was done and post stratification Chi square test was applied considering p-value ≤0.05 as significant. Conclusion: Among...
Objectives: To observe the association between dyslipidemia and homocysteine level in epileptic p... more Objectives: To observe the association between dyslipidemia and homocysteine level in epileptic patients; especially on carbamazepine monotherapy. Study Design: Cross sectional study. Setting: Neurology Department and Epilepsy Centre of Jinnah Post Graduate Medical Centre, Karachi. Period: From January 2015 – January 2016. Material & Methods: Total 300 subjects, aged more than 15 years were included and divided into three groups. Group A (100 healthy individuals) was control group, Group B (100 newly diagnosed epileptic patients without antiepileptic therapy), Group C (100 epileptic patients on Carbamazepine therapy, which was further subdivided into C-I (n=33) had epileptic patients on Carbamazepine therapy less than 1 year, C-II (n=33) comprised of epileptic patients on Carbamazepine therapy 1-2 years and C-III (n=33) had epileptic patients on Carbamazepine therapy more than 2 years. Serum lipid profile and homocysteine levels were measured. Results: In patients with different du...
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2017
Fanconi anemia is a rare autosomal recessive disorder of genetic instability. It is both molecula... more Fanconi anemia is a rare autosomal recessive disorder of genetic instability. It is both molecularly and clinically, a heterogeneous disorder. Its incidence is 1 in 129,000 births and relatively high in some ethnic groups. Sixteen genes have been identified among them mutations in FANCG gene are most common after FANCA and FANCC gene mutations. To study mutations in exon 3 and 4 of FANCG gene in Pakistani population. Thirty five patients with positive Diepoxybutane test were included in the study. DNA was extracted and amplified for exons 3 and 4. Thereafter Sequencing was done and analyzed for the presence of mutations. No mutation was detected in exon 3 whereas a carrier of known mutation c.307+1 G>T was found in exon 4 of the FANCG gene. Absence of any mutation in exon 3 and only one heterozygous mutation in exon 4 of FANCG gene points to a different spectrum of FA gene pool in Pakistan that needs extensive research in this area.
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