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Article ; Online: Response from M Maqsood, P Waheed, A Rashid, et al. (J Pak Med Assoc. 2023; 73

Muntaha Maqsood / Palvasha Waheed / Amir Rashid / Asifa Majeed / Ahsan Mukhtar

Journal of the Pakistan Medical Association, Vol 73, Iss

978-982) Aldose reductase gene polymorphism rs752010122 and retinopathy in type 2 diabetics

2023 Volume 11

Abstract: Madam, First of all, I would like to appreciate the reader for their insightful feedback as we can all learn when wisdom is shared. The readers concerns are addressed point by point as follows: 1. Limitations of study • Restriction of funding resources ... ...

Abstract	Madam, First of all, I would like to appreciate the reader for their insightful feedback as we can all learn when wisdom is shared. The readers concerns are addressed point by point as follows: 1. Limitations of study • Restriction of funding resources and sample size. • Scarcity of literature regarding available and very limited publication available of the AKR1B1 gene. • Analysis not linked to demographic details, because samples used were de-identified in order to stick to the design of the study.2. The study only discussed the association of AR gene polymorphism rs752010122 and DR regardless of whether the polymorphism was familial or somatic. A family history of diabetic retinopathy (DR) increases its risk in patients with T2DM however it was not the scope of this study. Furthermore, as it was a single centre study with small sample size, including a patient population with diverse ethinicity was not possible. The discussion portion of the article highlights the scarce data available discussing the various AR gene polymorphisms in certain ethincities. However, a large collabrative multicentre study icluding a diverse patient popultaion spanning various demographic areas may be able to identify the association of AR gene polymorphism, ethinicity and DR. 3. The samples were de-identified prior to analysis by multiple blinded researchers. 4. It is acknowledged that the article does not specifically mention that patients with dyslipidaemia were excluded. However, patients with DR suspected secondary to other causes were excluded as mentioned in the “Patient and Methods” section. 5. It is acknowledged that the article does not include how the patients were screened for DR and T2DM, therefore this comment provides us the opportunity to provide those details. Patients were screened for DR by fundoscopy by expert ophthalmolgists at Armed Forces Institute of Ophthalmology. Clinical evaluation icluded BMI, blood pressure and other vital signs. Haematological work up included Fasting Blood Glucose, HbA1c, Fasting ...
Keywords	Medicine ; R
Subject code	610
Language	English
Publishing date	2023-10-01T00:00:00Z
Publisher	Pakistan Medical Association
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Response from M Maqsood, P Waheed, A Rashid, et al. (J Pak Med Assoc. 2023; 73

Muntaha Maqsood / Palvasha Waheed / Amir Rashid / Asifa Majeed / Ahsan Mukhtar

Journal of the Pakistan Medical Association, Vol 73, Iss

978-982) Aldose reductase gene polymorphism rs752010122 and retinopathy in type 2 diabetics

2023 Volume 11

Abstract	Madam, First of all, I would like to appreciate the reader for their insightful feedback as we can all learn when wisdom is shared. The readers concerns are addressed point by point as follows: 1. Limitations of study • Restriction of funding resources and sample size. • Scarcity of literature regarding available and very limited publication available of the AKR1B1 gene. • Analysis not linked to demographic details, because samples used were de-identified in order to stick to the design of the study.2. The study only discussed the association of AR gene polymorphism rs752010122 and DR regardless of whether the polymorphism was familial or somatic. A family history of diabetic retinopathy (DR) increases its risk in patients with T2DM however it was not the scope of this study. Furthermore, as it was a single centre study with small sample size, including a patient population with diverse ethinicity was not possible. The discussion portion of the article highlights the scarce data available discussing the various AR gene polymorphisms in certain ethincities. However, a large collabrative multicentre study icluding a diverse patient popultaion spanning various demographic areas may be able to identify the association of AR gene polymorphism, ethinicity and DR. 3. The samples were de-identified prior to analysis by multiple blinded researchers. 4. It is acknowledged that the article does not specifically mention that patients with dyslipidaemia were excluded. However, patients with DR suspected secondary to other causes were excluded as mentioned in the “Patient and Methods” section. 5. It is acknowledged that the article does not include how the patients were screened for DR and T2DM, therefore this comment provides us the opportunity to provide those details. Patients were screened for DR by fundoscopy by expert ophthalmolgists at Armed Forces Institute of Ophthalmology. Clinical evaluation icluded BMI, blood pressure and other vital signs. Haematological work up included Fasting Blood Glucose, HbA1c, Fasting ...
Keywords	Medicine ; R
Subject code	610
Language	English
Publishing date	2023-10-01T00:00:00Z
Publisher	Pakistan Medical Association
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Response from M Maqsood, P Waheed, A Rashid, et al. (J Pak Med Assoc. 2023; 73

Muntaha Maqsood / Palvasha Waheed / Amir Rashid / Asifa Majeed / Ahsan Mukhtar

Journal of the Pakistan Medical Association, Vol 73, Iss

978-982) Aldose reductase gene polymorphism rs752010122 and retinopathy in type 2 diabetics

2023 Volume 11

Abstract	Madam, First of all, I would like to appreciate the reader for their insightful feedback as we can all learn when wisdom is shared. The readers concerns are addressed point by point as follows: 1. Limitations of study • Restriction of funding resources and sample size. • Scarcity of literature regarding available and very limited publication available of the AKR1B1 gene. • Analysis not linked to demographic details, because samples used were de-identified in order to stick to the design of the study.2. The study only discussed the association of AR gene polymorphism rs752010122 and DR regardless of whether the polymorphism was familial or somatic. A family history of diabetic retinopathy (DR) increases its risk in patients with T2DM however it was not the scope of this study. Furthermore, as it was a single centre study with small sample size, including a patient population with diverse ethinicity was not possible. The discussion portion of the article highlights the scarce data available discussing the various AR gene polymorphisms in certain ethincities. However, a large collabrative multicentre study icluding a diverse patient popultaion spanning various demographic areas may be able to identify the association of AR gene polymorphism, ethinicity and DR. 3. The samples were de-identified prior to analysis by multiple blinded researchers. 4. It is acknowledged that the article does not specifically mention that patients with dyslipidaemia were excluded. However, patients with DR suspected secondary to other causes were excluded as mentioned in the “Patient and Methods” section. 5. It is acknowledged that the article does not include how the patients were screened for DR and T2DM, therefore this comment provides us the opportunity to provide those details. Patients were screened for DR by fundoscopy by expert ophthalmolgists at Armed Forces Institute of Ophthalmology. Clinical evaluation icluded BMI, blood pressure and other vital signs. Haematological work up included Fasting Blood Glucose, HbA1c, Fasting ...
Keywords	Medicine ; R
Subject code	610
Language	English
Publishing date	2023-10-01T00:00:00Z
Publisher	Pakistan Medical Association
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Identifying Risk Factors Associated with the Development of Diabetic Retinopathy in the Local Population

Erum Tariq / Palvasha Waheed / Amir Rashid / Asifa Majeed

Pakistan Armed Forces Medical Journal, Vol 72, Iss

2022 Volume 6

Abstract: Objective: To identify the risk factors for developing diabetic retinopathy. Study Design: Cross-sectional study. Place and Duration of Study: Department of Biochemistry and Molecular Biology, Army Medical College, Rawalpindi, Pak Emirates Military ... ...

Abstract	Objective: To identify the risk factors for developing diabetic retinopathy. Study Design: Cross-sectional study. Place and Duration of Study: Department of Biochemistry and Molecular Biology, Army Medical College, Rawalpindi, Pak Emirates Military Hospital (PEMH), Rawalpindi and Armed Forces Institute of Ophthalmology (AFIO), Rawalpindi Pakistan,from Jun 2021 to May 2022. Methodology: A total of one hundred and fifty participants aged 25-70 years were included in the study. All participants were divided into three equal groups. Group-I was of age and gender-matched healthy individuals (n=50), Group-II was of people with diabetes without retinopathy (n=50), and Group-III was of diabetic patients having retinopathy (n=50). All the data of the participants were recorded on an especially designed proforma, and 5ml of venous blood was also drawn from the subjects to measure serum lipid levels. Results: Male gender was more common with 33(66%), 30(60%) and 33(66%) in Group-I, Group-II, and Group-III respectively.Most of the retinopathy cases had sedentary lifestyle 33(66%), poor dietary habits 34(68%), cardiovascular disease 38(76%),diabetic foot ulcers 44(88%) and increased levels of TAGS (p-value 0.001). Nephropathy and smoking showed no significant link with dr. Conclusion: It can be concluded that a sedentary lifestyle, poor dietary habits, cardiovascular disease, diabetic foot and increased TAGS may be risk factors for the development of diabetic retinopathy. These findings can help in the early identification and better prognosis of the disease in high-risk individuals.
Keywords	Diabetic Retinopathy ; Type 2 diabetes ; Risk factors ; Medicine ; R ; Medicine (General) ; R5-920
Subject code	610
Language	English
Publishing date	2022-12-01T00:00:00Z
Publisher	Army Medical College Rawalpindi
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: THE RISK FACTORS ASSOCIATED WITH DIABETIC DYSLIPIDEMIA AND ANTHROPOMETRIC PARAMETERS LINKED WITH AND WITHOUT DYSLIPIDEMIA IN TYPE 2 DIABETES MELLITUS

Zara Khalid Khan / Asifa Majeed / Amir Rashid

Pakistan Armed Forces Medical Journal, Vol 70, Iss 2, Pp 628-

2020 Volume 633

Abstract: Objective: To ascertain and identify risk determinants linked with and without dyslipidemia in type 2 diabetic patients. Study Design: Comparative cross-sectional study. Place and Duration of Study: Fauji Foundation Hospital and Military Hospital, ... ...

Abstract	Objective: To ascertain and identify risk determinants linked with and without dyslipidemia in type 2 diabetic patients. Study Design: Comparative cross-sectional study. Place and Duration of Study: Fauji Foundation Hospital and Military Hospital, Rawalpindi, Pakistan, from Jan 2018 to Jan 2019. Methodology: Total 90 subjects were divided into three groups; diabetes with dyslipidemia, diabetes without dyslipidemia and controls. Their blood sugar, lipid profile, HbA1c, hepatitis screening and anthropometric data were considered. Results: Out of 90 patients, females and males were 73 (80.2%) and 17 (18.7%) respectively. Dyslipidemic females displayed higher LDL-C (3.29 ± 0.95) and lower HDL-C (0.74 ± 0.25) values, while males showed high total cholesterol (5.60 ± 1.30) and triglyceride (2.88 ± 1.40) levels. Female dyslipidemics and non-dyslipidemics exhibited highest HbA1c values (8.90 ± 2.25 and 7.81 ± 1.41). Female and male dyslipidemics displayed highest BMI measures (25.27 ± 3.44). Conclusion: Significant associations were seen among type-2 diabetes mellitus subjects (with and without dyslipidemia) and age, gender, HbA1c, lipid profile, BMI and obesity.
Keywords	body mass index ; dyslipidemia ; hba1c ; hdl-c ; ldl-c ; pakistan ; total cholesterol ; triglycerides ; Medicine ; R ; Medicine (General) ; R5-920
Subject code	360
Language	English
Publishing date	2020-04-01T00:00:00Z
Publisher	Army Medical College Rawalpindi
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: SCREENING OF GENETIC MUTATION IN ABCA1 GENE AND RELATIONSHIP OF LOW-DENSITY LIPOPROTEIN AND TRIGLYCERIDES IN PATIENTS WITH TYPE 2 DIABETES WITH AND WITHOUT DYSLIPIDEMIA

Munnaza Sarfraz / Amir Rashid / Midhat Mustafa / Saleem Ahmad Khan / Asifa Majeed

Pakistan Armed Forces Medical Journal, Vol 70, Iss 5, Pp 1271-

2020 Volume 1276

Abstract: Objective: To find the genetic mutation in exon-9 of the ABCA1 gene and relationship of serum low-density lipoprotein levels and serum triglycerides in patients with type 2 diabetes mellitus with and without dyslipidemia. Study Design: Cross-sectional ... ...

Abstract	Objective: To find the genetic mutation in exon-9 of the ABCA1 gene and relationship of serum low-density lipoprotein levels and serum triglycerides in patients with type 2 diabetes mellitus with and without dyslipidemia. Study Design: Cross-sectional comparative. Place and Duration of Study: Department of Biochemistry and Molecular Biology, Army Medical College Rawalpindi, from Jan to Dec 2017. Methodology: Ninety subjects were selected and divided into three groups, thirty in each. The division was based on newly diagnosed patients of type 2 diabetes with dyslipidemia, newly diagnosed patients of type 2 diabetes and healthy individuals. Genomic DNA was extracted from the blood samples of all subjects. Exon-9 of the ABCA1 gene was amplified through polymerase chain reaction and sequenced on automated DNA sequencer. The biochemical data was analyzed by SPSS-20 and presented in percentage and mean  SD. Results: The pattern of sequences of ABCA1 gene was found normal in patients of the group I and II through DNA sequencing. The levels of triglycerides were found elevated and mean value was 2.45 ± 0.57 for patients with diabetic dyslipidemia as compared to diabetic and control groups. The levels of low-density lipoproteins were observed as normal with mean value of 1.50 ± 0.22. Conclusion: The ABCA1 gene did not carry any genetic mutation in exon-9 in studied subjects. The raised level of triglyceride lipoproteins was a typical sign of dyslipidemia with a normal profile of low-density lipoproteins
Keywords	abca1 gene ; dna sequencing ; dyslipidemia ; low-density lipoproteins ; triglycerides ; type 2 diabetes mellitus ; Medicine ; R ; Medicine (General) ; R5-920
Subject code	616
Language	English
Publishing date	2020-10-01T00:00:00Z
Publisher	Army Medical College Rawalpindi
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: SCREENING OF GENETIC MUTATION IN ABCA1 GENE AND RELATIONSHIP OF LOW-DENSITY LIPOPROTEIN AND TRIGLYCERIDES IN PATIENTS WITH TYPE 2 DIABETES WITH AND WITHOUT DYSLIPIDEMIA

Munnaza Sarfraz / Amir Rashid / Midhat Mustafa / Saleem Ahmad Khan / Asifa Majeed

Pakistan Armed Forces Medical Journal, Vol 70, Iss 5, Pp 1271-

2020 Volume 1276

Abstract	Objective: To find the genetic mutation in exon-9 of the ABCA1 gene and relationship of serum low-density lipoprotein levels and serum triglycerides in patients with type 2 diabetes mellitus with and without dyslipidemia. Study Design: Cross-sectional comparative. Place and Duration of Study: Department of Biochemistry and Molecular Biology, Army Medical College Rawalpindi, from Jan to Dec 2017. Methodology: Ninety subjects were selected and divided into three groups, thirty in each. The division was based on newly diagnosed patients of type 2 diabetes with dyslipidemia, newly diagnosed patients of type 2 diabetes and healthy individuals. Genomic DNA was extracted from the blood samples of all subjects. Exon-9 of the ABCA1 gene was amplified through polymerase chain reaction and sequenced on automated DNA sequencer. The biochemical data was analyzed by SPSS-20 and presented in percentage and mean  SD. Results: The pattern of sequences of ABCA1 gene was found normal in patients of the group I and II through DNA sequencing. The levels of triglycerides were found elevated and mean value was 2.45 ± 0.57 for patients with diabetic dyslipidemia as compared to diabetic and control groups. The levels of low-density lipoproteins were observed as normal with mean value of 1.50 ± 0.22. Conclusion: The ABCA1 gene did not carry any genetic mutation in exon-9 in studied subjects. The raised level of triglyceride lipoproteins was a typical sign of dyslipidemia with a normal profile of low-density lipoproteins.
Keywords	abca1 gene ; dna sequencing ; dyslipidemia ; low-density lipoproteins ; triglycerides ; Medicine ; R ; Medicine (General) ; R5-920
Subject code	616
Language	English
Publishing date	2020-10-01T00:00:00Z
Publisher	Army Medical College Rawalpindi
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: A COMPARATIVE STUDY OF DYSLIPIDAEMIA IN DIABETIC PATIENTS WITH AND WITHOUT NEUROPATHY

Shabana Mushtaq / Muhammad Javad Yousaf / Amir Rashid / Wasim Wali / Asifa Majeed / Ayesha Choudhary

Pakistan Armed Forces Medical Journal, Vol 69, Iss 2, Pp 268-

2019 Volume 272

Abstract: Objective: To evaluate and compare lipid profile of diabetic neuropathic patients and diabetic patients without neuropathy. Study Design: Cross-sectional comparative study. Place and Duration of Study: The study was conducted at Multidisciplinary lab 1, ... ...

Abstract	Objective: To evaluate and compare lipid profile of diabetic neuropathic patients and diabetic patients without neuropathy. Study Design: Cross-sectional comparative study. Place and Duration of Study: The study was conducted at Multidisciplinary lab 1, Department of Biochemistry and Molecular biology Army Medical College, Rawalpindi in collaboration with department of Neurology PEMH Rawalpindi, from Feb 2018 to Sep 2018. Material and Methods: The enrolled subjects were divided in to three groups, group I, n=30 healthy individuals taken as controls, group II composed of 30 diagnosed diabetic patients without neuropathy and group III comprised of 30 diagnosed diabetic patients with neuropathy. Results: There was significant difference in HDL and LDL values between group I and group II. There was also significant difference in HDL and LDL values of group I and group III. There was no statistically significant difference of lipid profile parameters between group II and group III. Conclusion: There was significant increase of LDL and decrease of HDL in diabetic patients as compared to normal healthy individuals. There was no statistically significant difference observed between the lipid profile of diabetics with and without neuropathy.
Keywords	diabetes mellitus ; diabetic neuropathy ; Medicine ; R ; Medicine (General) ; R5-920
Subject code	616
Language	English
Publishing date	2019-04-01T00:00:00Z
Publisher	Army Medical College Rawalpindi
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Analysis of clinical and biochemical spectrum of Wilson Disease patients

Sumreena Mansoor / Abdul Khaliq Naveed / Asifa Majeed

Indian Journal of Pathology and Microbiology, Vol 55, Iss 3, Pp 365-

2012 Volume 369

Abstract: Background and Aims: Wilson disease (WD) is autosomal recessive disorder of copper metabolism. Wilson disease patients usually suffer from hepatic or neuropsychiatric complications. The symptoms appear between ages five to 35 but it can vary from two ... ...

Abstract	Background and Aims: Wilson disease (WD) is autosomal recessive disorder of copper metabolism. Wilson disease patients usually suffer from hepatic or neuropsychiatric complications. The symptoms appear between ages five to 35 but it can vary from two years to 72 years. Materials and Methods : Study was carried out from June 2008 to November 2010. This study included nine families with eleven cases of WD to determine clinical presentation, diagnostic findings (including laboratory results) and liver histology. It included 11 patients who presented with hepatic manifestations and/or Neuropsychiatric manifestations and/or family history suggesting features of WD. Patients with hepatitis B and C and those with history of taking antipsychotic drugs were excluded from the study. Patient′s data was included in a well designed performa. Liver function test, serum ceruloplasmin, serum copper, 24 hour urinary copper, blood complete picture were analyzed. Quantitative data such as age, hemoglobin etc were expressed as mean with ± SD and quantitative variables such as sex, movement disorders, hepatic involvement etc were expressed as frequency and percentage. Results: There were five male and six female patients with evidence of various manifestations here (i) hepatic in which they had only liver dysfunction (ii) hepatic and neurological (iii) neurological. The mean age of presentation was 8.7±3.92 years (range 4-19 years) and 45% were male patients. Decreased serum ceruloplasmin, enhanced 24-h urinary copper excretion and signs of chronic liver damage were confirmed in all patients and Kayser-Fleischer rings (KF rings) in 72% of patients. In severe WD patients, serum prothrombin activity was less than 50%, serum ceruloplasmin were low and serum copper levels were high than those in non-severe WD patients. High degree of suspicion leads to early treatment with good outcome. Conclusions: The WD is rare but important cause of chronic liver disease. Clinical and biochemical analysis in cases of patients with unexplained liver disease with high degree of suspicion can lead to early treatment with good outcome.
Keywords	Hepatic ; neurological ; neuropsychiatric disorder ; Wilson disease ; Pathology ; RB1-214 ; Medicine ; R ; Microbiology ; QR1-502 ; Science ; Q
Subject code	610
Language	English
Publishing date	2012-01-01T00:00:00Z
Publisher	Medknow Publications
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Spectrum of ATP7B Gene Mutations in Pakistani Wilson Disease Patients

Abdul Khaliq Naveed / Asifa Majeed / Sumreena Mansoor

International Journal of Biology, Vol 2, Iss

A Novel Mutation Is Associated with Severe Hepatic and Neurological Complication

2010 Volume 1

Abstract: Wilson disease (WND) is an autosomal recessive disorder caused by mutation in ATP7B gene that impairs copper metabolism. ATP7B is involved in the transport of copper into the plasma protein ceruloplasmin and copper excretion out of the liver. Defects in ... ...

Abstract	Wilson disease (WND) is an autosomal recessive disorder caused by mutation in ATP7B gene that impairs copper metabolism. ATP7B is involved in the transport of copper into the plasma protein ceruloplasmin and copper excretion out of the liver. Defects in ATP7B lead to excess of copper in various organs primarily in liver. The diagnosis of WND is more complex due to variations in its biochemical and clinical features and the broad range of disease onset. The objective of the present study was to establish molecular analysis system for screening of Wilson disease in Pakistani population. Three mutations were identified; with one being is a novel mutation never reported before.
Keywords	Biology (General) ; QH301-705.5 ; Science ; Q ; Zoology ; QL1-991
Language	English
Publishing date	2010-01-01T00:00:00Z
Publisher	Canadian Center of Science and Education
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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