This study investigated whether a single nucleotide polymorphism (SNP) in the leptin receptor gene (LEPR), rs1137101, is associated with obesity and type 2 diabetes in Saudi women. The researchers genotyped 425 Saudi women, including 150 obese diabetic women, 130 obese non-diabetic women, and 145 normal weight women. They found that the rs1137101 polymorphism was mainly present in the obese diabetic and obese non-diabetic groups. Additionally, there was no significant difference in genotype between the obese diabetic and obese non-diabetic groups. Therefore, this LEPR polymorphism may be a genetic risk factor for both obesity and type 2 diabetes in Saudi women.
Polymorphism in Glutatione S-Transferase P1 and ManganeseSuperoxide Dismmutas...iosrjce
This study examined polymorphisms in the glutathione S-transferase P1 (GSTP1) and manganese superoxide dismutase (Mn-SOD) genes in 74 Egyptian women with preeclampsia and 50 healthy pregnant controls. DNA was extracted from blood samples and genotyped using polymerase chain reaction and restriction fragment length polymorphism analysis. Carriers of the GSTP1 Val allele were more frequent among preeclampsia patients compared to controls. Preeclampsia patients also had a lower frequency of the GSTP1 Ile/Ile genotype and higher frequency of the Ile/Val and Val/Val genotypes. However, no significant differences in Mn-SOD genotypes or
1) ADMA levels are significantly elevated in patients with severe sepsis compared to healthy controls and correlate with severity of organ failure and mortality.
2) Higher ADMA levels on day 1 are associated with need for inotropic support and higher levels on day 7 correlate with increased mortality.
3) While CRP and ADMA both increase in sepsis, only ADMA levels correlate with severity of organ dysfunction.
Visión panorámica de la evolución del tratamiento de melanoma metastásico.Mauricio Lema
The document discusses long-term survival outcomes from the CheckMate 067 trial of nivolumab plus ipilimumab combination therapy versus monotherapies for advanced melanoma. Five-year survival was 52% for the combination, 44% for nivolumab, and 26% for ipilimumab alone. A higher proportion of patients treated with the combination were alive and treatment-free at 5 years compared to monotherapies. No new safety signals were observed with longer follow-up. Outcomes from the CheckMate 204 trial evaluating the combination for melanoma brain metastases are also summarized.
Association between polymorphisms of the DNA repair gene (OGG1) in Iraqi pati...iosrjce
IOSR Journal of Pharmacy and Biological Sciences(IOSR-JPBS) is a double blind peer reviewed International Journal that provides rapid publication (within a month) of articles in all areas of Pharmacy and Biological Science. The journal welcomes publications of high quality papers on theoretical developments and practical applications in Pharmacy and Biological Science. Original research papers, state-of-the-art reviews, and high quality technical notes are invited for publications.
This document discusses the role of epigenetics in type 2 diabetes (T2D). It describes how environmental factors like undernutrition can induce chronic metabolic and hormonal changes through epigenetic mechanisms like DNA methylation and histone modification, enhancing the risk of T2D later in life. Specific genes involved in insulin production and secretion like INS and PPARGC1A show changes in DNA methylation and histone markers in pancreatic cells and tissues of T2D patients. Factors like obesity, diet, exercise and aging can also influence epigenetic changes linked to T2D risk and complications through various mechanisms. While research is still ongoing, epigenetics appears to play an important part in the development and pathology of
Lipid_Profile_Changes_in_the_Severly_Obese_After_Laparoscopic Sleeve GastrectomyRicky Costa
This study examined changes in lipid profiles in severely obese patients up to 5 years after undergoing laparoscopic sleeve gastrectomy (LSG). The study found that while average lipid levels were within normal ranges before surgery, 77% of patients had at least one abnormal lipid level. At 1 year post-surgery, triglycerides decreased and HDL increased significantly. At 3 years, HDL levels remained significantly higher than baseline levels. Weight loss correlated with decreases in LDL at 3 years and triglycerides at 5 years. However, the percentage of patients with dyslipidemia or taking medication for it did not significantly change over the 5-year period.
1. The study investigated how the Allergen 1 (ALL1) gene regulates polysaccharide structure in Cryptococcus neoformans.
2. Deletion of ALL1 resulted in a shorter, less branched exopolysaccharide with higher viscosity. It also altered gene expression related to iron homeostasis.
3. The changes in exopolysaccharide structure caused differences in phagocytosis and antibody binding, demonstrating ALL1's role in regulating polysaccharide conformation.
Polymorphism in Glutatione S-Transferase P1 and ManganeseSuperoxide Dismmutas...iosrjce
This study examined polymorphisms in the glutathione S-transferase P1 (GSTP1) and manganese superoxide dismutase (Mn-SOD) genes in 74 Egyptian women with preeclampsia and 50 healthy pregnant controls. DNA was extracted from blood samples and genotyped using polymerase chain reaction and restriction fragment length polymorphism analysis. Carriers of the GSTP1 Val allele were more frequent among preeclampsia patients compared to controls. Preeclampsia patients also had a lower frequency of the GSTP1 Ile/Ile genotype and higher frequency of the Ile/Val and Val/Val genotypes. However, no significant differences in Mn-SOD genotypes or
1) ADMA levels are significantly elevated in patients with severe sepsis compared to healthy controls and correlate with severity of organ failure and mortality.
2) Higher ADMA levels on day 1 are associated with need for inotropic support and higher levels on day 7 correlate with increased mortality.
3) While CRP and ADMA both increase in sepsis, only ADMA levels correlate with severity of organ dysfunction.
Visión panorámica de la evolución del tratamiento de melanoma metastásico.Mauricio Lema
The document discusses long-term survival outcomes from the CheckMate 067 trial of nivolumab plus ipilimumab combination therapy versus monotherapies for advanced melanoma. Five-year survival was 52% for the combination, 44% for nivolumab, and 26% for ipilimumab alone. A higher proportion of patients treated with the combination were alive and treatment-free at 5 years compared to monotherapies. No new safety signals were observed with longer follow-up. Outcomes from the CheckMate 204 trial evaluating the combination for melanoma brain metastases are also summarized.
Association between polymorphisms of the DNA repair gene (OGG1) in Iraqi pati...iosrjce
IOSR Journal of Pharmacy and Biological Sciences(IOSR-JPBS) is a double blind peer reviewed International Journal that provides rapid publication (within a month) of articles in all areas of Pharmacy and Biological Science. The journal welcomes publications of high quality papers on theoretical developments and practical applications in Pharmacy and Biological Science. Original research papers, state-of-the-art reviews, and high quality technical notes are invited for publications.
This document discusses the role of epigenetics in type 2 diabetes (T2D). It describes how environmental factors like undernutrition can induce chronic metabolic and hormonal changes through epigenetic mechanisms like DNA methylation and histone modification, enhancing the risk of T2D later in life. Specific genes involved in insulin production and secretion like INS and PPARGC1A show changes in DNA methylation and histone markers in pancreatic cells and tissues of T2D patients. Factors like obesity, diet, exercise and aging can also influence epigenetic changes linked to T2D risk and complications through various mechanisms. While research is still ongoing, epigenetics appears to play an important part in the development and pathology of
Lipid_Profile_Changes_in_the_Severly_Obese_After_Laparoscopic Sleeve GastrectomyRicky Costa
This study examined changes in lipid profiles in severely obese patients up to 5 years after undergoing laparoscopic sleeve gastrectomy (LSG). The study found that while average lipid levels were within normal ranges before surgery, 77% of patients had at least one abnormal lipid level. At 1 year post-surgery, triglycerides decreased and HDL increased significantly. At 3 years, HDL levels remained significantly higher than baseline levels. Weight loss correlated with decreases in LDL at 3 years and triglycerides at 5 years. However, the percentage of patients with dyslipidemia or taking medication for it did not significantly change over the 5-year period.
1. The study investigated how the Allergen 1 (ALL1) gene regulates polysaccharide structure in Cryptococcus neoformans.
2. Deletion of ALL1 resulted in a shorter, less branched exopolysaccharide with higher viscosity. It also altered gene expression related to iron homeostasis.
3. The changes in exopolysaccharide structure caused differences in phagocytosis and antibody binding, demonstrating ALL1's role in regulating polysaccharide conformation.
1) The study investigated the role of growth hormone (GH)-activated signal transducer and activator of transcription 5 (STAT5) in mediating the anti-obesity effects of GH using GH receptor mutant (ghr-391) mice.
2) The ghr-391 mice developed late-onset obesity and increased adipocyte size in the inguinal subcutaneous fat pads compared to wild-type mice.
3) Gene expression analysis of the fat tissue from ghr-391 mice showed downregulation of genes involved in fatty acid oxidation and "browning" of white fat tissue, suggesting GH-activated STAT5 plays an important role in mobilizing fat stores and increasing beige fat characteristics.
Alterations of Mitochondrial Functions and DNA in Diabetic Cardiomyopathy of ...CrimsonPublishersIOD
Alterations of Mitochondrial Functions and DNA in Diabetic Cardiomyopathy of CCK1 Receptors-Deficient Rats by Abdelbary Prince, Magdy A Ghoneim, Abdallah M El-Ebidi, Hala A Mousa and Jin Han in Interventions in Obesity & Diabetes
1) The document discusses Tay-Sachs disease (TSD), a neurodegenerative lysosomal storage disorder caused by mutations in the HEXA gene resulting in β-hexosaminidase A deficiency and GM2 ganglioside accumulation.
2) Accumulation of GM2 gangliosides is thought to trigger apoptosis, inflammation and synaptic dysfunction, though the specific mechanisms are unclear.
3) The author proposes a potential new therapeutic strategy for TSD involving silencing the GM2 activator protein to prevent GM2 transport to lysosomes and accumulation, combined with anti-inflammatory drugs. This approach aims to address current issues in understanding TSD pathogenesis and improving patient outcomes.
Imeglimin a new class a new approach for diabetes management yara eid
1. Mitochondrial dysfunction plays a key role in the pathogenesis of type 2 diabetes through decreased oxidative capacity, increased reactive oxygen species production, and impaired insulin secretion.
2. Imeglimin is a new antidiabetic drug that targets mitochondrial function through several mechanisms, including improving complex II activity, decreasing oxidative stress, and increasing PGC-1α and mitochondrial biogenesis.
3. Clinical trials have shown imeglimin to be effective at reducing blood glucose levels and to have a good safety profile, suggesting it may be a promising new treatment for type 2 diabetes.
1) Muscle injury in mice lacking the protein γ-sarcoglycan causes an increase in SMAD signaling, which contributes to transforming growth factor β (TGFβ) signaling.
2) Reducing SMAD signaling through introducing a heterozygous mutation of the gene SMAD4 in γ-sarcoglycan mice led to improved body mass, cardiac function, and muscle force compared to γ-sarcoglycan mice.
3) While fibrosis was not reduced, membrane damage was decreased, suggesting intracellular SMAD4 targets are important for mediating muscle and heart dysfunction in muscular dystrophy.
Androgens like testosterone play an important role in glucose metabolism and diabetes risk in both men and women. In men, low testosterone is a risk factor for type 2 diabetes, while testosterone deficiency therapy for prostate cancer also increases diabetes risk. In women, excess androgens like in polycystic ovarian syndrome are linked to insulin resistance and diabetes. The mechanisms involve effects of androgen signaling in tissues like muscle, fat, liver and the brain that regulate glucose and energy homeostasis. Maintaining normal androgen levels and signaling may be important for preventing or managing diabetes.
This document summarizes the evidence on the relationship between sodium intake and cardiovascular disease and mortality outcomes. While higher sodium intake is generally associated with higher blood pressure, a risk factor for cardiovascular disease, the evidence suggests the relationship between sodium and blood pressure, as well as between sodium and clinical outcomes, is modest. Large cohort studies using NHANES data found no significant associations between sodium intake and cardiovascular or all-cause mortality. Overall, the evidence does not strongly support recommendations for universal sodium restriction due to lack of evidence for meaningful health benefits.
This document discusses genetic factors that influence obesity and eating behaviors. It begins by outlining learning objectives around understanding the molecular basis of obesity and evaluating genetic influences on food attitudes and satiety. It then provides background on the global prevalence of obesity in various countries. The rest of the document discusses several specific genes like LCT, TCF7L2, PPARG, and ACE that influence traits like lactose intolerance and response to dieting. It emphasizes that genetics can help tailor diets and lifestyle recommendations based on an individual's genetic profile to increase success with weight loss and management.
Gm1 gangliosidosis and morquio b disease an update on genetic alterations and...Edwin Alvarado
This document reports on genetic alterations and clinical findings related to GM1 gangliosidosis and Morquio B disease, which are rare lysosomal storage disorders caused by beta-galactosidase deficiency. Molecular analysis identified 27 mutations in 25 GM1 gangliosidosis patients, including 9 new mutations. Three remarkable cases were described, including a patient with GM1 gangliosidosis and triple X syndrome. Clinical features of patients were collected and compared. Homology modeling was used to analyze the structural effects of new missense mutations. The findings provide insights into classifying late-onset GM1 gangliosidosis and Morquio B disease.
This document summarizes information about the approval of the drug galsulfase for the treatment of mucopolysaccharidosis type VI (MPS VI). Key points:
1) Galsulfase is a recombinant form of human N-acetylgalactosamine 4-sulfatase enzyme replacement therapy approved in 2005 for MPS VI, a rare lysosomal storage disorder caused by deficiency of this enzyme.
2) Clinical trials showed galsulfase improved patients' walking and stair-climbing abilities compared to placebo.
3) While enzyme replacement therapies have been developed for several lysosomal storage disorders, challenges remain in fully treating all disease sites due to limitations in enzyme distribution and determining when irre
CETP overexpression in diabetic and obese db/db mice prevented the formation of diet-induced atherosclerotic plaques in the aorta. Mice overexpressing CETP had lower total cholesterol concentrations and less cholesterol in the VLDL and IDL/LDL subfractions compared to db/db mice. This study suggests CETP plays an anti-atherogenic role in the context of diabetic obesity by lowering atherogenic lipids and preventing plaque formation.
1) This document discusses the relationship between blood pressure, autonomic nervous system function, and renal function in people with sickle cell disease.
2) Studies have found lower blood pressure and parasympathetic activity in people with sickle cell disease compared to controls.
3) Higher rates of hemolysis are associated with increased blood pressure and mortality.
4) Longitudinal studies show declines in renal function over time in people with sickle cell disease, which are predicted by higher blood pressure, albumin-creatinine ratio, and hemoglobin levels.
Background: High serum phosphate level is associated with increased CVD morbidity and mortality in CKD patients. We sought to compare the efϐicacy of non-calcium containing phosphate binder Sevelamer Carbonate (SC) with Lanthanum Carbonate (LC) in patients with CKD stage 3-5.
1. The study analyzed genetic data from over 377,000 UK Biobank participants to investigate the association between the CADM2 gene and physical activity levels.
2. Results showed the CADM2 gene was independently associated with sufficient physical activity, defined as at least 2-3 days per week of strenuous exercise, and this association was not influenced by risk-taking behavior.
3. Further analysis found the influence of CADM2 on physical activity levels differed between sexes, with a greater effect observed in younger women compared to younger men.
Turbo Metabolism
Weight loss has got to be the most frustrating experience for many people, young and old alike. Eating foods that are just horrible, denying yourself foods you truly love and enjoy. Exercising, even though you absolutely hate exercising, and end up stiff as a board with no results. Finally Learn amazing secrets that will increase your metabolism, allowing your body to turn into a fat burning furnace day after day!
http://rapbank.com/go/5835/75255
The document discusses various metabolic effects and mechanisms of action of Roux-en-Y gastric bypass (RYGB) surgery based on several studies. It finds that RYGB is effective at inducing weight loss and remission or improvement of type 2 diabetes in both short and long term follow-ups. The surgery appears to work through caloric restriction as well as enhanced secretion of gut hormones like GLP-1 and PYY that promote satiety and insulin sensitivity independently of weight loss. RYGB also improves cardiovascular risk factors and mortality rates compared to controls or other bariatric procedures.
This document discusses nutrition and metabolism in injured or stressed patients. It covers several topics:
1. Injury causes an increase in energy requirements and metabolism. Insulin resistance occurs after injury.
2. Protein from skeletal muscle breakdown is an important fuel source. Amino acids like glutamine are conditionally essential.
3. Nutritional assessments evaluate dietary intake, anthropometrics, and biomarkers to identify deficiencies.
4. Various feeding methods can be used to meet increased caloric and protein needs in stressed patients. Maintaining proper nutrition supports healing and recovery from injury or illness.
This study investigated the relationship between FGF-23 levels and cardiovascular disease risk factors and carotid intima-media thickness in different stages of chronic kidney disease. The researchers found that FGF-23 levels increased with progression of CKD and were positively correlated with inflammation markers and carotid intima-media thickness, a measure of atherosclerosis. Carotid intima-media thickness and prevalence of atherosclerotic plaques also increased with more advanced CKD stages. The results suggest FGF-23 levels are associated with established cardiovascular disease risk factors in patients with chronic kidney disease.
Role of genetic factors in sport performance, short course MARIA VRANCEANU
This document discusses the role of genetic factors in sport performance. It outlines that genetics and heredity play an important role in determining aspects of sport performance. Family studies have shown high heritability for aerobic performance, muscular fitness, body composition and other performance related phenotypes. Certain ethnic groups like those from Kenya frequently dominate long distance running events, likely due to genetic advantages. The document examines key performance genes and how genetic testing and variations can provide insights into injury risk, nutrition needs and potential for performance enhancement.
This document outlines the weekly schedule for the AEPI555D Chronic Disease Epidemiology course in Spring 2017. It includes 8 lectures on various chronic diseases to be held on campus, as well as 3 off-campus lessons on specific chronic diseases. Study questions are due throughout the semester corresponding to each topic. The course concludes on campus with further lectures and discussions on chronic disease epidemiology, student presentations, and a final in-class discussion.
This document discusses prevention of diabetes-related visual impairment and blindness. It notes that diabetes contributes to many eye diseases that can lead to vision loss or blindness, including cataract, glaucoma, and diabetic retinopathy (DR). DR is responsible for about 1% of global vision impairment and blindness. The document provides global and regional statistics on the prevalence of DR and projections for how these numbers will increase in the future given the rising rates of diabetes worldwide. It also discusses the economic burden of DR and strategies for prevention and management of DR through control and surveillance programs integrated into overall non-communicable disease control efforts.
The document is a resume for Dr. Ibrahim Taleb Allah Abd, a 45-year-old Egyptian male who has been working in Saudi Arabia for the past 18 years. He is currently a research physician at a university diabetes center in Riyadh. Prior to this, he worked as a general practitioner (GP) at various medical centers and hospitals in Riyadh, dealing with emergency cases, surgeries, and more. He has over 18 years of experience as a GP doctor. He received his Bachelor's degree in Medicine and Surgery from Cairo University in 1997.
1) The study investigated the role of growth hormone (GH)-activated signal transducer and activator of transcription 5 (STAT5) in mediating the anti-obesity effects of GH using GH receptor mutant (ghr-391) mice.
2) The ghr-391 mice developed late-onset obesity and increased adipocyte size in the inguinal subcutaneous fat pads compared to wild-type mice.
3) Gene expression analysis of the fat tissue from ghr-391 mice showed downregulation of genes involved in fatty acid oxidation and "browning" of white fat tissue, suggesting GH-activated STAT5 plays an important role in mobilizing fat stores and increasing beige fat characteristics.
Alterations of Mitochondrial Functions and DNA in Diabetic Cardiomyopathy of ...CrimsonPublishersIOD
Alterations of Mitochondrial Functions and DNA in Diabetic Cardiomyopathy of CCK1 Receptors-Deficient Rats by Abdelbary Prince, Magdy A Ghoneim, Abdallah M El-Ebidi, Hala A Mousa and Jin Han in Interventions in Obesity & Diabetes
1) The document discusses Tay-Sachs disease (TSD), a neurodegenerative lysosomal storage disorder caused by mutations in the HEXA gene resulting in β-hexosaminidase A deficiency and GM2 ganglioside accumulation.
2) Accumulation of GM2 gangliosides is thought to trigger apoptosis, inflammation and synaptic dysfunction, though the specific mechanisms are unclear.
3) The author proposes a potential new therapeutic strategy for TSD involving silencing the GM2 activator protein to prevent GM2 transport to lysosomes and accumulation, combined with anti-inflammatory drugs. This approach aims to address current issues in understanding TSD pathogenesis and improving patient outcomes.
Imeglimin a new class a new approach for diabetes management yara eid
1. Mitochondrial dysfunction plays a key role in the pathogenesis of type 2 diabetes through decreased oxidative capacity, increased reactive oxygen species production, and impaired insulin secretion.
2. Imeglimin is a new antidiabetic drug that targets mitochondrial function through several mechanisms, including improving complex II activity, decreasing oxidative stress, and increasing PGC-1α and mitochondrial biogenesis.
3. Clinical trials have shown imeglimin to be effective at reducing blood glucose levels and to have a good safety profile, suggesting it may be a promising new treatment for type 2 diabetes.
1) Muscle injury in mice lacking the protein γ-sarcoglycan causes an increase in SMAD signaling, which contributes to transforming growth factor β (TGFβ) signaling.
2) Reducing SMAD signaling through introducing a heterozygous mutation of the gene SMAD4 in γ-sarcoglycan mice led to improved body mass, cardiac function, and muscle force compared to γ-sarcoglycan mice.
3) While fibrosis was not reduced, membrane damage was decreased, suggesting intracellular SMAD4 targets are important for mediating muscle and heart dysfunction in muscular dystrophy.
Androgens like testosterone play an important role in glucose metabolism and diabetes risk in both men and women. In men, low testosterone is a risk factor for type 2 diabetes, while testosterone deficiency therapy for prostate cancer also increases diabetes risk. In women, excess androgens like in polycystic ovarian syndrome are linked to insulin resistance and diabetes. The mechanisms involve effects of androgen signaling in tissues like muscle, fat, liver and the brain that regulate glucose and energy homeostasis. Maintaining normal androgen levels and signaling may be important for preventing or managing diabetes.
This document summarizes the evidence on the relationship between sodium intake and cardiovascular disease and mortality outcomes. While higher sodium intake is generally associated with higher blood pressure, a risk factor for cardiovascular disease, the evidence suggests the relationship between sodium and blood pressure, as well as between sodium and clinical outcomes, is modest. Large cohort studies using NHANES data found no significant associations between sodium intake and cardiovascular or all-cause mortality. Overall, the evidence does not strongly support recommendations for universal sodium restriction due to lack of evidence for meaningful health benefits.
This document discusses genetic factors that influence obesity and eating behaviors. It begins by outlining learning objectives around understanding the molecular basis of obesity and evaluating genetic influences on food attitudes and satiety. It then provides background on the global prevalence of obesity in various countries. The rest of the document discusses several specific genes like LCT, TCF7L2, PPARG, and ACE that influence traits like lactose intolerance and response to dieting. It emphasizes that genetics can help tailor diets and lifestyle recommendations based on an individual's genetic profile to increase success with weight loss and management.
Gm1 gangliosidosis and morquio b disease an update on genetic alterations and...Edwin Alvarado
This document reports on genetic alterations and clinical findings related to GM1 gangliosidosis and Morquio B disease, which are rare lysosomal storage disorders caused by beta-galactosidase deficiency. Molecular analysis identified 27 mutations in 25 GM1 gangliosidosis patients, including 9 new mutations. Three remarkable cases were described, including a patient with GM1 gangliosidosis and triple X syndrome. Clinical features of patients were collected and compared. Homology modeling was used to analyze the structural effects of new missense mutations. The findings provide insights into classifying late-onset GM1 gangliosidosis and Morquio B disease.
This document summarizes information about the approval of the drug galsulfase for the treatment of mucopolysaccharidosis type VI (MPS VI). Key points:
1) Galsulfase is a recombinant form of human N-acetylgalactosamine 4-sulfatase enzyme replacement therapy approved in 2005 for MPS VI, a rare lysosomal storage disorder caused by deficiency of this enzyme.
2) Clinical trials showed galsulfase improved patients' walking and stair-climbing abilities compared to placebo.
3) While enzyme replacement therapies have been developed for several lysosomal storage disorders, challenges remain in fully treating all disease sites due to limitations in enzyme distribution and determining when irre
CETP overexpression in diabetic and obese db/db mice prevented the formation of diet-induced atherosclerotic plaques in the aorta. Mice overexpressing CETP had lower total cholesterol concentrations and less cholesterol in the VLDL and IDL/LDL subfractions compared to db/db mice. This study suggests CETP plays an anti-atherogenic role in the context of diabetic obesity by lowering atherogenic lipids and preventing plaque formation.
1) This document discusses the relationship between blood pressure, autonomic nervous system function, and renal function in people with sickle cell disease.
2) Studies have found lower blood pressure and parasympathetic activity in people with sickle cell disease compared to controls.
3) Higher rates of hemolysis are associated with increased blood pressure and mortality.
4) Longitudinal studies show declines in renal function over time in people with sickle cell disease, which are predicted by higher blood pressure, albumin-creatinine ratio, and hemoglobin levels.
Background: High serum phosphate level is associated with increased CVD morbidity and mortality in CKD patients. We sought to compare the efϐicacy of non-calcium containing phosphate binder Sevelamer Carbonate (SC) with Lanthanum Carbonate (LC) in patients with CKD stage 3-5.
1. The study analyzed genetic data from over 377,000 UK Biobank participants to investigate the association between the CADM2 gene and physical activity levels.
2. Results showed the CADM2 gene was independently associated with sufficient physical activity, defined as at least 2-3 days per week of strenuous exercise, and this association was not influenced by risk-taking behavior.
3. Further analysis found the influence of CADM2 on physical activity levels differed between sexes, with a greater effect observed in younger women compared to younger men.
Turbo Metabolism
Weight loss has got to be the most frustrating experience for many people, young and old alike. Eating foods that are just horrible, denying yourself foods you truly love and enjoy. Exercising, even though you absolutely hate exercising, and end up stiff as a board with no results. Finally Learn amazing secrets that will increase your metabolism, allowing your body to turn into a fat burning furnace day after day!
http://rapbank.com/go/5835/75255
The document discusses various metabolic effects and mechanisms of action of Roux-en-Y gastric bypass (RYGB) surgery based on several studies. It finds that RYGB is effective at inducing weight loss and remission or improvement of type 2 diabetes in both short and long term follow-ups. The surgery appears to work through caloric restriction as well as enhanced secretion of gut hormones like GLP-1 and PYY that promote satiety and insulin sensitivity independently of weight loss. RYGB also improves cardiovascular risk factors and mortality rates compared to controls or other bariatric procedures.
This document discusses nutrition and metabolism in injured or stressed patients. It covers several topics:
1. Injury causes an increase in energy requirements and metabolism. Insulin resistance occurs after injury.
2. Protein from skeletal muscle breakdown is an important fuel source. Amino acids like glutamine are conditionally essential.
3. Nutritional assessments evaluate dietary intake, anthropometrics, and biomarkers to identify deficiencies.
4. Various feeding methods can be used to meet increased caloric and protein needs in stressed patients. Maintaining proper nutrition supports healing and recovery from injury or illness.
This study investigated the relationship between FGF-23 levels and cardiovascular disease risk factors and carotid intima-media thickness in different stages of chronic kidney disease. The researchers found that FGF-23 levels increased with progression of CKD and were positively correlated with inflammation markers and carotid intima-media thickness, a measure of atherosclerosis. Carotid intima-media thickness and prevalence of atherosclerotic plaques also increased with more advanced CKD stages. The results suggest FGF-23 levels are associated with established cardiovascular disease risk factors in patients with chronic kidney disease.
Role of genetic factors in sport performance, short course MARIA VRANCEANU
This document discusses the role of genetic factors in sport performance. It outlines that genetics and heredity play an important role in determining aspects of sport performance. Family studies have shown high heritability for aerobic performance, muscular fitness, body composition and other performance related phenotypes. Certain ethnic groups like those from Kenya frequently dominate long distance running events, likely due to genetic advantages. The document examines key performance genes and how genetic testing and variations can provide insights into injury risk, nutrition needs and potential for performance enhancement.
This document outlines the weekly schedule for the AEPI555D Chronic Disease Epidemiology course in Spring 2017. It includes 8 lectures on various chronic diseases to be held on campus, as well as 3 off-campus lessons on specific chronic diseases. Study questions are due throughout the semester corresponding to each topic. The course concludes on campus with further lectures and discussions on chronic disease epidemiology, student presentations, and a final in-class discussion.
This document discusses prevention of diabetes-related visual impairment and blindness. It notes that diabetes contributes to many eye diseases that can lead to vision loss or blindness, including cataract, glaucoma, and diabetic retinopathy (DR). DR is responsible for about 1% of global vision impairment and blindness. The document provides global and regional statistics on the prevalence of DR and projections for how these numbers will increase in the future given the rising rates of diabetes worldwide. It also discusses the economic burden of DR and strategies for prevention and management of DR through control and surveillance programs integrated into overall non-communicable disease control efforts.
The document is a resume for Dr. Ibrahim Taleb Allah Abd, a 45-year-old Egyptian male who has been working in Saudi Arabia for the past 18 years. He is currently a research physician at a university diabetes center in Riyadh. Prior to this, he worked as a general practitioner (GP) at various medical centers and hospitals in Riyadh, dealing with emergency cases, surgeries, and more. He has over 18 years of experience as a GP doctor. He received his Bachelor's degree in Medicine and Surgery from Cairo University in 1997.
Gestational diabetes mellitus dr. sandesh, dr anupama, dr sundarDr. Sundar Karki
The document discusses gestational diabetes mellitus (GDM), including changes in glucose metabolism during pregnancy that can lead to GDM, risk factors and screening recommendations involving a 50g glucose challenge test followed by a 100g oral glucose tolerance test if screening is positive, and management focuses on controlling blood glucose levels to reduce risks to both mother and fetus.
Acquired hemophilia is a rare disorder and if missed can cost lives. This presentation has been prepared keeping in view the non hematologist health care workers to broaden their index of suspicion and increase their awareness. The target people are medical residents those who work in ER and ICUs.
This document discusses gestational diabetes, including its definition, causes, importance of treatment, and treatment guidelines. Gestational diabetes is a form of diabetes that develops during pregnancy due to insulin resistance. Left untreated, it can lead to complications for both mother and baby like increased birth weight. Treatment aims to control blood sugar levels and can involve lifestyle changes as well as insulin if needed. Guidelines recommend screening and treatment according to established evidence-based protocols.
Gestational diabetes mellitus by sushantSushant Yadav
This document discusses gestational diabetes mellitus (GDM). It defines GDM as carbohydrate intolerance that is recognized or begins during pregnancy. The document discusses the types, risk factors, pathophysiology, screening recommendations, and classifications of diabetes in pregnancy according to White's groups. It notes that GDM occurs in about 7% of pregnancies globally and prevalence varies between racial/ethnic groups and countries. Screening is recommended between 24-28 weeks of gestation using a 75g oral glucose tolerance test.
Hemophilia is a genetic bleeding disorder caused by a defect in the genes responsible for blood clotting factors VIII or IX. It is usually inherited and affects boys more than girls. Symptoms include prolonged bleeding after injuries or medical procedures. Treatment involves replacing the missing clotting factor through infusions of donated blood products. Current research is developing new formulations of clotting factors that can be stored at room temperature to improve accessibility.
This document discusses hemophilia, including:
1. Hemophilia is an inherited bleeding disorder caused by deficiencies in coagulation factor VIII or IX.
2. There are two main types - Hemophilia A caused by factor VIII deficiency and Hemophilia B caused by factor IX deficiency.
3. Treatment involves replacing the missing clotting factor through products derived from plasma or recombinant sources to control bleeding and prevent joint damage. Regular prophylactic treatment starting in early childhood has been shown to significantly reduce long-term joint complications.
There are four main types of diabetes: type 1, type 2, gestational diabetes, and pre-diabetes. Type 1 is usually diagnosed in childhood and requires daily insulin injections. Type 2 is the most common type and is often linked to obesity. Gestational diabetes occurs during pregnancy, and pre-diabetes means blood sugar levels are higher than normal but not high enough to be classified as type 1 or 2. Common symptoms of diabetes include frequent urination, thirst, hunger, and fatigue. Testing involves fasting plasma glucose tests and oral glucose tolerance tests. Managing diabetes involves diet, exercise, medication and monitoring blood sugar levels. Long-term complications can affect the heart, kidneys, eyes, nerves and skin if diabetes is
This document discusses insulin resistance (IR) and its relationship to various medical conditions. It begins by defining IR and explaining common methods to assess IR, such as HOMA-IR and QUICKI. It then discusses the epidemiology of IR and its role in conditions like type 1 diabetes, metabolic syndrome, non-alcoholic fatty liver disease, obesity, hypertension, polycystic ovarian syndrome, and others. Management strategies for IR are also reviewed. The document provides an overview of the importance of recognizing and addressing IR in clinical practice.
The IOSR Journal of Pharmacy (IOSRPHR) is an open access online & offline peer reviewed international journal, which publishes innovative research papers, reviews, mini-reviews, short communications and notes dealing with Pharmaceutical Sciences( Pharmaceutical Technology, Pharmaceutics, Biopharmaceutics, Pharmacokinetics, Pharmaceutical/Medicinal Chemistry, Computational Chemistry and Molecular Drug Design, Pharmacognosy & Phytochemistry, Pharmacology, Pharmaceutical Analysis, Pharmacy Practice, Clinical and Hospital Pharmacy, Cell Biology, Genomics and Proteomics, Pharmacogenomics, Bioinformatics and Biotechnology of Pharmaceutical Interest........more details on Aim & Scope).
All manuscripts are subject to rapid peer review. Those of high quality (not previously published and not under consideration for publication in another journal) will be published without delay.
The IOSR Journal of Pharmacy (IOSRPHR) is an open access online & offline peer reviewed international journal, which publishes innovative research papers, reviews, mini-reviews, short communications and notes dealing with Pharmaceutical Sciences( Pharmaceutical Technology, Pharmaceutics, Biopharmaceutics, Pharmacokinetics, Pharmaceutical/Medicinal Chemistry, Computational Chemistry and Molecular Drug Design, Pharmacognosy & Phytochemistry, Pharmacology, Pharmaceutical Analysis, Pharmacy Practice, Clinical and Hospital Pharmacy, Cell Biology, Genomics and Proteomics, Pharmacogenomics, Bioinformatics and Biotechnology of Pharmaceutical Interest........more details on Aim & Scope).
All manuscripts are subject to rapid peer review. Those of high quality (not previously published and not under consideration for publication in another journal) will be published without delay.
Core Components of the Metabolic Syndrome in Nonalcohlic Fatty Liver DiseaseIOSR Journals
This study examined the association between nonalcoholic fatty liver disease (NAFLD) and metabolic syndrome (MetS) in Bangladeshi patients. The study included 67 patients diagnosed with NAFLD and 50 healthy controls matched for age and BMI. Results found that NAFLD patients had higher levels of insulin resistance, triglycerides, and central obesity compared to controls. However, no significant association was found between MetS and NAFLD when defined by common diagnostic criteria. Individual components of MetS like dyslipidemia, central obesity, and high postprandial glucose were significantly associated with NAFLD on logistic regression analysis. The study concludes that while various MetS components are linked to NAFLD in
The document discusses the role of peroxisome proliferator activated receptor gamma (PPARγ) agonists in treating type 2 diabetes and reducing cardiovascular risk. PPARγ agonists like thiazolidinediones improve insulin sensitivity and have beneficial effects on lipids, inflammation, and vascular cell proliferation. They may reduce cardiovascular events in type 2 diabetes through these metabolic and anti-inflammatory mechanisms. However, PPARγ agonists can also cause side effects like fluid retention, weight gain, and congestive heart failure, so their risks and benefits must be carefully weighed.
This document discusses insulin resistance (IR) and its relationship to various medical conditions. It begins by defining IR and describing methods to assess it, then discusses its epidemiology and links to type 1 diabetes, metabolic syndrome, obesity, hypertension, polycystic ovarian syndrome (PCOS), and other issues. Management of IR focuses on lifestyle changes, diet, exercise and medication when needed. Prevention of diabetes is also emphasized given IR's role in increasing risk.
This study investigated the association between a genetic variant (rs4293393 T>C) in the UMOD gene and risk of kidney disease in individuals with type 2 diabetes in North India. The study genotyped 646 individuals, including 208 with diabetes but no kidney disease, 221 with diabetic nephropathy, and 217 healthy controls. The frequency of the C allele of the UMOD variant was significantly higher in individuals with diabetic nephropathy compared to both healthy controls and individuals with diabetes but no kidney disease. Individuals with diabetic nephropathy also had higher serum uromodulin levels than those with diabetes but no kidney disease. This suggests the UMOD variant may influence susceptibility to nephropathy in
Raised Lipid Profile In Rheumatoid Arthritis- A Risk For CVDiosrjce
IOSR Journal of Biotechnology and Biochemistry (IOSR-JBB) covers studies of the chemical processes in living organisms, structure and function of cellular components such as proteins, carbohydrates, lipids, nucleic acids and other biomolecules, chemical properties of important biological molecules, like proteins, in particular the chemistry of enzyme-catalyzed reactions, genetic code (DNA, RNA), protein synthesis, cell membrane transport, and signal transduction. IOSR-JBB is privileged to focus on a wide range of biotechnology as well as high quality articles on genetic engineering, cell and tissue culture technologies, genetics, microbiology, molecular biology, biochemistry, embryology, cell biology, chemical engineering, bioprocess engineering, information technology, biorobotics.
Association of cardio metabolic risk factors, serum nitric oxide metabolite a...iosrjce
IOSR Journal of Dental and Medical Sciences is one of the speciality Journal in Dental Science and Medical Science published by International Organization of Scientific Research (IOSR). The Journal publishes papers of the highest scientific merit and widest possible scope work in all areas related to medical and dental science. The Journal welcome review articles, leading medical and clinical research articles, technical notes, case reports and others.
1. The document discusses how epigenetic mechanisms can link early life diet to cancer risk later in life.
2. It provides examples of how nutrition and environment during critical periods like prenatal, neonatal, and puberty can cause epigenetic changes that alter gene expression and disease susceptibility long-term.
3. Detecting epigenetic marks like DNA methylation in early life may help predict future disease risk, including some cancers, though more research is still needed.
This document summarizes a study examining the association between a VCAM-1 gene polymorphism (rs3783605 A>G) and type 2 diabetes mellitus (T2DM) in Iraqi patients. The study involved 129 Iraqi subjects, including 68 patients diagnosed with T2DM and 61 healthy controls. DNA was extracted from subjects and a PCR technique was used to determine genotypes. Results showed a higher frequency of the A/G genotype in controls compared to patients, with a significant difference. Patients had significantly higher values for BMI, fasting blood sugar, HbA1c, HDL, LDL, VLDL, triglycerides and abdominal circumference compared to controls. Patients with the A/G genotype also had significantly different
Comparative Study of Serum Electrolytes among Treated Diabetic SubjectsMatiaAhmed
This study was designed to investigate the measurements of serum levels of Na+
, K+
, Mg2+
and Ca2+ and their changes with serum glucose levels. Thirty treated diabetic patients (diet
/ OHA), aged between 23 to 27 years and having BMI of 17.9 to 22.54 kg/m2
were selected
randomly from the outpatient department of BIRDEM.
The document discusses insulin resistance (IR) from various perspectives. It begins by explaining the importance of understanding IR as a measurable parameter that can provide insights into various conditions. It then covers topics such as assessing IR, the epidemiology of IR, the role of IR in type 1 diabetes, metabolic syndrome, obesity, hypertension, polycystic ovarian syndrome (PCOS), and other issues. The document emphasizes that IR underlies many common health problems and that measuring and managing IR can help address these conditions clinically.
This study examined the association between angiotensin-converting enzyme (ACE) gene insertion/deletion polymorphism and type-2 diabetic nephropathy in Eastern Indian populations. The researchers genotyped 91 subjects, including 30 with diabetic nephropathy, 30 with diabetes but no nephropathy, and 31 healthy controls. They found no significant differences in genotype or allele frequencies between the groups. Specifically, the frequency of the DD genotype, associated with higher ACE levels, was similar between those with and without nephropathy. This suggests ACE insertion/deletion polymorphism is not significantly associated with type-2 diabetic nephropathy in this population.
This document summarizes a study comparing antioxidant status and inflammatory markers in type 2 diabetic male and female subjects with nephropathy. The study found that inflammatory markers IL-6 and TNF-α were higher in type 2 diabetic females with nephropathy compared to males. Antioxidant levels of Gpx were lower in both males and females with nephropathy but more decreased in females. The study concludes that oxidative stress and inflammation play a role in the development of nephropathy in type 2 diabetes, with females exhibiting greater levels of inflammation and oxidative stress than males.
This document summarizes a study comparing antioxidant status and inflammatory markers in type 2 diabetic male and female subjects with nephropathy. The study found that inflammatory markers IL-6 and TNF-α were higher in type 2 diabetic female subjects with nephropathy compared to males. It also found that the antioxidant enzyme glutathione peroxidase was lower in both male and female diabetic nephropathy subjects compared to controls, but was lower in females. The study concludes that oxidative stress and inflammation may play a greater role in the pathogenesis of nephropathy in type 2 diabetic females compared to males.
The document summarizes current concepts regarding type 2 diabetes mellitus (DM), including its pathogenesis and natural history. It describes how:
1) Insulin resistance in tissues like liver, muscle and fat leads to compensatory hyperinsulinemia. Over time, the beta cells cannot sustain high insulin levels and their function declines, resulting in impaired glucose tolerance and eventually diabetes.
2) Multiple metabolic factors like lipotoxicity and glucotoxicity further impair beta cell function in a process known as beta cell failure.
3) Insulin resistance in key tissues drives pathological processes that underlie the development and progression of type 2 DM, such as accelerated hepatic glucose production and impaired glucose uptake in muscle.
Tirzepatide versus Semiglutide Once Weekly in Patients with Type 2 Diabetes.pdfHaramaya University
This randomized controlled trial compared the efficacy and safety of three doses of tirzepatide (5 mg, 10 mg, and 15 mg), a dual GLP-1 and GIP receptor agonist, to semaglutide (1 mg), a GLP-1 receptor agonist, in 1879 patients with type 2 diabetes inadequately controlled with metformin alone. The primary outcome was the change in HbA1c from baseline to 40 weeks. Key secondary outcomes included changes in body weight and achievement of HbA1c targets. Tirzepatide at all doses resulted in greater reductions in HbA1c and body weight compared to semaglutide and was found to be noninferior and
This study investigated whether early second trimester lipid profiles are associated with later glucose tolerance and risk of gestational diabetes mellitus (GDM). Researchers analyzed serum samples from over 800 pregnant women collected in early second trimester and at 28 weeks. Mass spectrometry identified specific lipid species correlated with 1-hour post-glucose load levels in the discovery cohort. Five of these lipids were independently associated with glucose levels and GDM risk in the validation cohort. The four most predictive lipids modestly improved prediction of GDM risk over clinical factors alone. The results suggest certain early lipids may help identify later GDM risk.
ABSTRACT- Diabetes mellitus is associated with hyperglycemia and patients are at an increased risk of cardiovascular disease. The present study
was carried out to evaluate the diagnostic value of Glycated hemoglobin (HbA1c) in predicting risk of development of diabetic dyslipidemia. 70 clinically
diagnosed cases of type 2 diabetes mellitus with the age range 30-75 years were included in the study group. Out of which 35 diabetic patients
with good glycemic control were included under Group A and 35 diabetic patients with poor glycemic control were included under Group B. 70 age
and sex matched healthy individuals served as controls. HbA1c demonstrated positive and significant correlation with total cholesterol (TC), low
density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C) and LDL/HDL-C, non-HDL-C and TC/HDL-C ratio. Patients
with HbA1c value > 7.0% had significantly higher value of TC, Triacylglycerol (TAG), LDL-C, LDL-C/HDL-C ratio, non-HDL-C and TC/HDL-C
ratio as compared to the patients with HbA1c ≤ 7.0%. However, there was no significant difference in value of HDL-C between two groups. Thus
HbA1c can be used as a potential dual marker of glycemic control and dyslipidemia in type 2 diabetes mellitus.
Keywords: - Type2 Diabetes Mellitus, Glycated hemoglobin, Dyslipidemia, Cardiovascular disease, Lipid Profile panel
Similar to Vol 1,issue 7 Leptin receptor rs1137101 variant is risk factor for obesity and type II diabetes in Saudi adult women (20)
Adhd Medication Shortage Uk - trinexpharmacy.comreignlana06
The UK is currently facing a Adhd Medication Shortage Uk, which has left many patients and their families grappling with uncertainty and frustration. ADHD, or Attention Deficit Hyperactivity Disorder, is a chronic condition that requires consistent medication to manage effectively. This shortage has highlighted the critical role these medications play in the daily lives of those affected by ADHD. Contact : +1 (747) 209 – 3649 E-mail : sales@trinexpharmacy.com
Muktapishti is a traditional Ayurvedic preparation made from Shoditha Mukta (Purified Pearl), is believed to help regulate thyroid function and reduce symptoms of hyperthyroidism due to its cooling and balancing properties. Clinical evidence on its efficacy remains limited, necessitating further research to validate its therapeutic benefits.
These lecture slides, by Dr Sidra Arshad, offer a quick overview of the physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
14. Explain the concepts of current of injury, J point, and their significance
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Cell Therapy Expansion and Challenges in Autoimmune DiseaseHealth Advances
There is increasing confidence that cell therapies will soon play a role in the treatment of autoimmune disorders, but the extent of this impact remains to be seen. Early readouts on autologous CAR-Ts in lupus are encouraging, but manufacturing and cost limitations are likely to restrict access to highly refractory patients. Allogeneic CAR-Ts have the potential to broaden access to earlier lines of treatment due to their inherent cost benefits, however they will need to demonstrate comparable or improved efficacy to established modalities.
In addition to infrastructure and capacity constraints, CAR-Ts face a very different risk-benefit dynamic in autoimmune compared to oncology, highlighting the need for tolerable therapies with low adverse event risk. CAR-NK and Treg-based therapies are also being developed in certain autoimmune disorders and may demonstrate favorable safety profiles. Several novel non-cell therapies such as bispecific antibodies, nanobodies, and RNAi drugs, may also offer future alternative competitive solutions with variable value propositions.
Widespread adoption of cell therapies will not only require strong efficacy and safety data, but also adapted pricing and access strategies. At oncology-based price points, CAR-Ts are unlikely to achieve broad market access in autoimmune disorders, with eligible patient populations that are potentially orders of magnitude greater than the number of currently addressable cancer patients. Developers have made strides towards reducing cell therapy COGS while improving manufacturing efficiency, but payors will inevitably restrict access until more sustainable pricing is achieved.
Despite these headwinds, industry leaders and investors remain confident that cell therapies are poised to address significant unmet need in patients suffering from autoimmune disorders. However, the extent of this impact on the treatment landscape remains to be seen, as the industry rapidly approaches an inflection point.
Histololgy of Female Reproductive System.pptxAyeshaZaid1
Dive into an in-depth exploration of the histological structure of female reproductive system with this comprehensive lecture. Presented by Dr. Ayesha Irfan, Assistant Professor of Anatomy, this presentation covers the Gross anatomy and functional histology of the female reproductive organs. Ideal for students, educators, and anyone interested in medical science, this lecture provides clear explanations, detailed diagrams, and valuable insights into female reproductive system. Enhance your knowledge and understanding of this essential aspect of human biology.
8 Surprising Reasons To Meditate 40 Minutes A Day That Can Change Your Life.pptxHolistified Wellness
We’re talking about Vedic Meditation, a form of meditation that has been around for at least 5,000 years. Back then, the people who lived in the Indus Valley, now known as India and Pakistan, practised meditation as a fundamental part of daily life. This knowledge that has given us yoga and Ayurveda, was known as Veda, hence the name Vedic. And though there are some written records, the practice has been passed down verbally from generation to generation.
One health condition that is becoming more common day by day is diabetes.
According to research conducted by the National Family Health Survey of India, diabetic cases show a projection which might increase to 10.4% by 2030.
2. International Journal of Medical Sciences and Health Care Vol-1 Issue-7 (Ijmshc-703)
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Leptin receptor rs1137101 variant is risk factor for obesity and type II diabetes in
Saudi adult women
Rowyda .N. Al-Harithy, Noura .S. Al-Zahrani-
Department of Biochemistry, King Abdulaziz University, Jeddah, Saudi Arabia.
Address all correspondence to:Dr. Rowyda .N. Al-Harithy-Biochemistry Department,King Abdul Aziz University P. O. Box
40288 Jeddah 21499,Kingdom of Saudi Arabia.
Abstract:
Genetic variations at the leptin receptor gene locus have been linked to diseases accompanying obesity and/or
obesity-related diseases in different populations. However, the results from Previous studies have reported conflicting
results. The aim of this study was to investigate whether LEPR gene SNP Gln223Arg (rs1137101) is associated with
obesity and type II diabetes in Saudi adult women. Therefore, SNP rs1137101 in LEPR gene in a total of 425 women
(150 obese diabetic, 130 obese non-diabetic, and 145 normal weight) was investigated using PCR and sequencing
techniques.
The genotype analysis of obese diabetic, obese non-diabetic, and normal weight revealed that the polymorphism
seemed mainly confined to the first two groups of the cohort. In both obese non-diabetic and diabetic subjects,
genotype distribution differ significantly from those expected under Hardy-Weinberg equilibrium conditions (obese
non-diabetic, x2=132.6, P=0.0001; obese diabetic, x2=248.6, P=0.0001). In addition, there was no significant
difference in the genetic distribution for rs1137101 polymorphism between obese non-diabetic and diabetic women
(x2=0.01, P=0.92). The allele frequency for the polymorphism rs1137101 had a frequency of 0.09 in obese non-
diabetic and 0.05 in obese diabetic females. As a conclusion, rs1137101 polymorphism of the LEPR gene is associated
with susceptibility to obesity and type II diabetes. This polymorphism may represent genetic marker for the risk of
obesity and type II diabetes.
Running title: rs1137101polymorphism of the leptin receptor
Key words: rs1137101 polymorphism, leptin receptor, obesity, type II diabetes.
Introduction:
Obesity is a very serious problem that has been a
global epidemic since it has progressively increased
over the past several decades. It is considered as a
public health challenge because of its association with
a numerous diseases and clinical disorders, including
type II diabetes [1,2,3,4,5]. In the Kingdom of Saudi
Arabia (KSA), few epidemiologic studies have been
done to assess the prevalence of obesity and type II
diabetes. The studies showed that the percentage of
prevalence of obesity increased between 1997 and
2012 from 22.1 to 33.8% [6,7]. In 2011, among the
Saudi population, the prevalence of diabetes was
34.1% in males and 27.6% in females [8]. The
etiologies of obesity and diabetes in humans are
complex and often involve an interaction of genetic
and environmental factors. Work on obesity-related
gene–environment interactions is still in its
infancy. Having a better understanding of the genetic
contributions to obesity and gene–environment
interactions will generate a better understanding of the
causal pathways that lead to obesity. Such knowledge
could someday yield promising strategies for obesity
prevention and treatment.
Leptin receptor (LEPR) gene is a single-
transmembrane-domain receptor of the cytokine-
receptor family with widespread tissue distribution and
several alternatively spliced isoforms [9,10]. Its
product has defined a new biological pathway for the
regulation of food intake and energy expenditure. The
LEPR gene has been cloned [9] and mapped to 1p31 in
humans [11]. Polymorphisms (SNPs) in the 20 exons
and introns of LEPR gene have been identified
[11,12,12,14,15,16,17,18]. A Common variant in exon
6 of LEPR is SNP rs1137101 that causes a change of
glutamine to arginine at codon 223 [12]. The
rs1137101 polymorphism is within the region
encoding the extracellular domain of the leptin
receptor and, therefore, the amino acid change affects
all forms of the receptor. It has been shown that the
LEPR rs1137101 polymorphism is associated with the
variation in ligand binding; higher levels of ligand
binding activity have been demonstrated in individuals
homozygous for the G (LEPR Arg223Arg) allele than
in carriers of the A (LEPR 223Gln) allele [19]). The
frequency of this polymorphism was reported in many
articles and was distinct in different ethnic groups.
Some of these studies were conducted in the United
States [11,14, 20, 21,22], Asia [17,23,24], Europe
3. International Journal of Medical Sciences and Health Care Vol-1 Issue-7 (Ijmshc-703)
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[16,19,25,26,27], and Oceania [28,29]. In the search of
variants that could be important in the pathophysiology
of human obesity, SNP rs1137101 has been
investigated as possible factor [21,30,31,32,33,34,35].
Given the inconclusive nature of most studies
published to date, it is necessary to perform further
studies concerning this gene in other populations. So
far, the Saudi populations have not been included in
these studies. Motivated by the potential importance of
rs1137101 polymorphism in obesity, this study aims to
determine the relationship of rs1137101 polymorphism
with obesity and type II diabetes.
Methods
Subjects
Total of 425 women (150 obese diabetic, 130 obese
non-diabetic, and 145normal weight) were selected for
polymorphism screening. Diabetic obese women
(BMI>30kg/m2
) were recruited from diabetic patients
attending a diabetic clinic at National Guard Hospital,
Jeddah (KSA). Obese non-diabetic (BMI >30kg/m2
)
and positive controls (BMI<25kg/m2
) were randomly
chosen from individuals who volunteered for physical
check-ups in the diabetic clinic at National Guard
Hospital. All subjects signed a consent form after
being informed of the purpose and procedures of the
study. Females of ages 45-65 years were retained for
the present study and younger age were excluded from
the study. This cross-sectional study was conducted in
the Department of Biochemistry Science College, King
Abdul Aziz University, Jeddah, Saudi Arabia. The
sequencing assay was done in King Faisal Specialist
hospital and Research center, Riyadh, Saudi Arabia.
Measurements
For all the subjects, weight and height were measured
by the same observer to the nearest 0.5kg and 0.5cm;
respectively. Body mass index (BMI) was calculated
as weight (kg) divided by height (m) squared. Subjects
in this study were classified as normal weight (BMI<
25kg/m2
), or obese (BMI> 30kg/m2
).
DNA extraction and genotyping
DNA was extracted from whole blood using the
procedure described in Ultraclean DNA isolation kit
(USA), and used for subsequent analysis. The region
containing the polymorphism was amplified by
polymerase chain reaction (PCR) using primer pair
previously described (Thompson et al., 1997). The
reaction profiles consisted of an initial denaturation at
95o
C for 15min, followed by 40 cycles at 95o
C for
45sec, annealing at 60o
C for 45sec, and extension at
72o
C for 1min, with a final extention at 72o
C for
10min. All PCR products were analyzed by agarose
gel (2%) electrophoresis, purified, and sequenced by
automated sequence analysis using Mega Bace/1000
DNA analysis system (Molecular Dynamics American
Life Science, USA).
Statistical analysis
The allele frequencies of LEPR were tested for the
Hardy-Weinberg equilibrium using the Chi-Square
test. The same test was used in comparing genotype
distributions of the rs1137101 polymorphism between
obese non-diabetic, obese diabetic, and normal weight
subjects. The level of significant was defined at P≤
0.05.
Results
The amplification and the sequencing for exon 6
fragments were done for all the volunteers to screen
for nucleotide variation in the second position of codon
223. The PCR products were electrophoreised on 2%
agarose gel along with the DNA Molecular Weight
Marker XIV (size range from100-1500 b), and showed
sizes of 400bp (Figure 1). Upon sequencing of exon 6
of the LEPR gene, an A to G transition was found in
obese non-diabetic women (17.3% variant frequency)
and obese diabetic (9.7% variant frequency) at
nucleotide 668 (codon 223). The transition caused an
amino acid substitution; Glutamine was changed to
Arginine (Gln223Arg). No sequence variants were
found in the 145 normal weight individuals. Figure 2
shows the Sequence analysis of the rs1137101 variants
of the amplified exon 6 of LEPR gene.
The genotype distribution and allele frequencies for
the rs1137101 polymorphism of the LEPR gene are
presented in Table 1. In obese non-diabetic subjects,
frequency of Gln223 and Arg223 alleles were 0.91 and
0.09 respectively. The genotype distributions deviate
significantly from Hardy-Weinberg equilibrium
(X2
=132.6; df =2; P=0.0001). In obese diabetic
women, Gln223 and Arg223 allele frequencies were
0.95 and 0.05 respectively. The genotype distributions
deviate significantly from Hardy-Weinberg
equilibrium (X2
=249.6; df =2; P=0.0001).
In comparing genotype distributions of the rs1137101
polymorphism between obese non-diabetic and obese
diabetic subjects, Chi-Square test was used and
showed no significant difference in the genetic
distribution for rs1137101 polymorphism between
obese non-diabetic and diabetic women (x2
=0.01,
P=0.92). The genotype distribution of the rs1137101
4. International Journal of Medical Sciences and Health Care Vol-1 Issue-7 (Ijmshc-703)
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polymorphism was significantly different between the
two groups and the normal weight subjects (X2
=9.3; df
=1; P=0.002). These results imply a linkage of
rs1137101 polymorphism with obesity and type II
diabetes in Saudi women.
Discussion
Our results provide further support for the reported
LEPR rs1137101polymorphism effect on the risk of
obesity and type II diabetes, strengthening the notion
that this interaction effect may possibly influence type
II diabetes development. Genotype analysis of obese
diabetic, obese non-diabetic, and normal weight
revealed that the polymorphism seemed mainly
confined to the first two groups of the cohort.
Differences in genotype frequencies were observed
between obese diabetic and obese non-diabetic
women, but were not significant. The insignificant
result does not rule out the possibility that the
rs1137101 polymorphism may play a role in the
progression toward the diabetic state. Type II diabetes,
like obesity, is a polygenic disease and susceptibility to
type II diabetes is influenced by a number of genes,
each believed to have a small effect on disease
development.
We suggest that LEPR rs1137101polymorphism may
exert a small effect on the disease. This result
highlights the importance of examining rs1137101
polymorphism when assessing susceptibility to obesity
and type II diabetes and supports the idea that obesity
and type II diabetes can develop through key genes
exerting minor effects. The striking finding was the
extremely high occurrence of heterozygous genotype
C/T at rs1137101 in exon 6 of the of the LEPR gene.
The heterozygous and homozygous variant genotype
showed that Gln/Arg percentage is higher than
Arg/Arg percentage in both groups. This result does
not rule out the possibility that variation in one allele
may cause obesity and type II diabetes in combination
with an as yet unidentified and/or not studied variation
in other alleles.
Our data is consistent with earlier studies that showed
an association with obesity [11,19,21,36]. Thompson
and co-workers were the first to report an association
between Gln223Arg genotype and BMI in Pima
Indians [11]. Similar results have been reported in
postmenopausal Caucasian women [19], in the
Brazilian populations [21] and in Mexican adolescents
[36]. All studies indicated that carriers of the Arg allele
have higher BMI, fat mass, and leptin levels than Gln
homozygotes. In contrast to our results, other
researchers have demonstrated a lack of association of
this SNP with adiposity [20,22,37,38,39,].
There have been conflicting reports of association of
rs1137101 polymorphism with obesity and type II
diabetes. Investigators have pointed out reason for
hiding the effect of rs1137101 polymorphism, and they
relate that to the differences in the background
variation in other genes among studied populations
(11,12,21]. We suggest that the inconsistency in the
results may be due to the type of obesity in the
population studied, ethnicity, and/or the possibility that
other SNPs within the leptin receptor may affect this
data. Potential limitations of this study include its
moderate size. However, the inclusion of only women
of ages between 45 to 65 years provide a distinct
advantage when performing genetic studies and
evaluating the corresponding associations.
In comparing allele frequency of the polymorphism
investigated to the frequencies observed in several
other ethnic populations, it showed that, obese non-
diabetic women had a variant allele frequency (Arg
0.09) much lower than the rest of the other groups. In
British, Quebec, American, French, Australian, Greek,
and Danish showed homogenous frequencies (0.44,
0.45, 0.46, 0.44, 0.42, 0.32, and 0.43, respectively). On
the other hand, Japanese, Pima, and Pacific Island of
Nauruan were found to exhibit higher frequencies for
Arg allele of the rs1137101 polymorphism. It has been
suggested that the frequencies differ with ethnicity
[40]. In that regard, we suggest that the cause of
obesity in Saudi women may be uniquely different to
the causes of these diseases in other populations. Also,
persons with the Arg allele are more prone to obesity
and type II diabetes.
In conclusion, the results support the hypothesis of an
effect of rs1137101 polymorphism on obesity and type
II diabetes in humans. However, this effect does not
seem to have a major impact on adiposity and type II
diabetes in Saudi women. Additional functional studies
to clarify the role of the rs1137101 polymorphism on
leptin action in human metabolism are needed.
Competing interests: The author declares that they
have no competing interests.
Acknowledgments: I thank all the participants for
their generous cooperation.
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Figure 1 :Amplification of theexon 6 of LEPR gene by PCR. Lane M: molecular weight marker (100bpladder). Lanes
1-16: the amplified exon 6 fragments (size of 400bp(
8. International Journal of Medical Sciences and Health Care Vol-1 Issue-7 (Ijmshc-703)
http://www.ijmshc.com Page 20
Figure 2: Sequence analysis of the rs1137101 variants of the amplified exon 6 of the LEPR gene.
Table 1: Genotype and Allele frequencies of rs1137101 polymorphism in obese non-diabetic and diabetic Saudi
women.
Group Gln/Gln Gln/Arg Arg/Arg Gln223 Arg223
Obese non-
diabetic
(n=130)
0.600 (60.0%) 0.308 (30.8%) 0.092 (9.2%) 0.91 0.09
Obese
diabetic
(n=150)
0.613 (61.3%) 0.333 (33.3%) 0.053 (5.3%) 0.95 0.05