OEGE - Online Encyclopedia for Genetic Epidemiology studies

• Overview
• GWAS
• NGS
• Population Studies
• Case & Family Studies
• Genetic Databases
• Genotyping
• Phenotyping
• Software
• Disease Genes
• Genetic Diversity
• Journals

Diabetes Mellitus

Overview of Diabetes Mellitus and its Major Complications:

• WHO Diagnostic Criteria and Classification of Diabetes Mellitus - http://www.paho.org/English/AD/DPC/NC/dia-info.htm

• American Diabetes Association: Diagnosis and Classification of Diabetes Mellitus - http://care.diabetesjournals.org/cgi/content/full/29/suppl_1/s43

• Diabetes Mellitus, Type 1: a comprehensive review - http://www.emedicine.com/med/topic546.htm

• Diabetes Mellitus, Type 2: a comprehensive review - http://www.emedicine.com/med/topic547.htm

• Diabetic Nephropathy: a comprehensive review - http://www.emedicine.com/med/topic549.htm

• Diabetic Foot Care Overview - http://www.emedicinehealth.com/Articles/18002-1.asp

• Diabetic Ulcers: a comprehensive review - MailScanner has detected a possible fraud attempt from "www.emedicinehealth.com" claiming to be http://www.emedicine.com/med/topic551.htm

• Background Diabetic Retinopathy - http://www.emedicine.com/oph/topic414.htm

• Proliferative Diabetic Retinopathy - http://www.emedicine.com/oph/topic415.htm

• Diabetic Neuropathy: a comprehensive review - http://www.emedicine.com/neuro/topic88.htm

• Diabetic Ketoacidosis - http://www.emedicine.com/emerg/topic135.htm

• Perioperative Management of the Diabetic Patient - http://www.emedicine.com/med/topic3165.htm

• Diabetes Mellitus and Pregnancy - http://www.emedicine.com/med/topic3249.htm

• American Diabetes Association: Pre-Diabetes - http://www.diabetes.org/pre-diabetes.jsp

• Pancreas Transplantation: review - http://www.emedicine.com/med/topic2605.htm

Genetics and Diabetes Mellitus:

• Genetics and Diabetes Mellitus: a comprehensive review - http://www.who.int/genomics/about/Diabetis-fin.pdf

• The Human Genome Project and Diabetes: Genetics of Type 2 Diabetes - http://darwin.nmsu.edu/~molbio/diabetes/disease.html

• Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus: A population association has consistently been observed between insulin-dependent diabetes mellitus (IDDM) and the "class 1" alleles of the region of tandem-repeat DNA (5' flanking polymorphism [5'FP]) adjacent to the insulin gene on chromosome 11p. This finding suggests that the insulin gene region contains a gene or genes contributing to IDDM susceptibility - http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=93190982&dopt=Citation

• The Finland-United States Investigation of Non-Insulin-Dependent Diabetes Mellitus Genetics (FUSION) Study. II. An Autosomal Genome Scan for Diabetes-Related Quantitative-Trait Loci:  In this study the authors have described genomewide results from the Finland-United States Investigation of NIDDM Genetics (FUSION) study, a multicenter effort to positionally clone genes for type 2 diabetes in the Finnish population.  An important component of FUSION was the measurement of a variety of type 2 diabetes-related quantitative traits in subjects with and without disease - http://www.journals.uchicago.edu/AJHG/journal/issues/v67n5/001950/001950.text.html

• Virus infection triggers insulin-dependent diabetes mellitus in a transgenic model: Role of anti-self (virus) immune response: In this study the researchers investigated the potential association between viruses and insulin-dependent (type 1) diabetes (IDDM) by developing a transgenic mouse model. The results show that the induced anti-self (viral) CTL response leads to selective and progressive damage of beta cells, resulting in IDDM -

  http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1901765&dopt=Abstract

• Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness: Inherited factors are important for the development of type 2 diabetes mellitus, but the genes involved are unknown. In this study the researchers have identified a large pedigree in which type 2 diabetes mellitus, in combination with a sensorineural hearing loss, is maternally inherited. The maternal inheritance and the observed decrease in mitochondrial enzyme activities of the respiratory chain indicate a genetic defect in the mitochondrial DNA. An A to G transition was identified at nucleotide 3,243, a conserved position in the mitochondrial gene for tRNALeu(UUR). This mutation cosegregates with the disease in this family and is absent in controls, and indicates that a point mutation in mitochondrial DNA is a pathogenetic factor for type 2 diabetes mellitus - http://www.nature.com/ng/journal/v1/n5/abs/ng0892-368.html

Statistics:

• American Diabetes Association: Diabetes Statistics - http://www.diabetes.org/diabetes-statistics.jsp

• US: National Diabetes Fact Sheet, 2005 -  http://www.diabetes.org/uedocuments/NationalDiabetesFactSheetRev.pdf

• Incidence and prevalence of diabetes mellitus in the Americas - http://www.paho.org/English/DD/PUB/v10n5-barcelo.pdf

Measures:

Diabetes Risk Test:

• American Diabetes Association: Diabetes Risk Test - Almost 1/3rd of American Diabetics do not know that they are indeed suffering from diabetes mellitus. This test helps to quantify the risk of having or developing type 2 diabetes mellitus - http://www.diabetes.org/risk-test.jsp

• Questionnaire to quantify the risk to develop diabetes - http://www.yourdiseaserisk.harvard.edu/hccpquiz.pl?lang=english&func=start&quiz=diabetes

Role of laboratory in Diabetes Mellitus:

• WHO Laboratory Diagnosis and Monitoring of Diabetes Mellitus 2002: In this report we can find a comprehensive account on the role of the medical laboratory in diabetes mellitus, methods for blood glucose  determination, urine glucose, quality control of glucose determination, self-monitoring of blood glucose,  oral glucose tolerance test (OGTT), analysis and standardization of glycosylated proteins (HbA1c), Fructosamine test, urinary albumin excretion - http://whqlibdoc.who.int/hq/2002/9241590483.pdf

Blood Glucose Test:

• Medline Plus: Fasting Blood Glucose Test - http://www.nlm.nih.gov/medlineplus/ency/article/003482.htm

• Medline Plus: Random Blood Glucose Test - http://www.nlm.nih.gov/medlineplus/ency/article/003438.htm

• Medline Plus: Oral Glucose Tolerance Test - http://www.nlm.nih.gov/medlineplus/ency/article/003466.htm

• American Association for Clinical Chemistry: HbA1c Test - http://www.labtestsonline.org/understanding/analytes/a1c/test.html

• American Association for Clinical Chemistry: Tests for Glucose - http://www.labtestsonline.org/understanding/analytes/glucose/glance.html

The ‘Edmonton’ Protocol:

Diabetic Neuropathy - Investigative Work-up:

• American Association for Clinical Chemistry: Vitamin B12 and Folate Levels - http://www.labtestsonline.org/understanding/analytes/vitamin_b12/glance.html

• American Association for Clinical Chemistry: Thyroid Stimulating Hormone (TSH) Levels - http://www.labtestsonline.org/understanding/analytes/tsh/glance.html

• American Association for Clinical Chemistry: ESR - http://www.labtestsonline.org/understanding/analytes/esr/glance.html

• American Association for Clinical Chemistry: CBC - http://www.labtestsonline.org/understanding/analytes/cbc/glance.html

• ACR (American College of Radiology) Practice Guideline for the Performance of Myelography and Cisternography - http://www.acr.org/s_acr/bin.asp?TrackID=&SID=1&DID=12254&CID=542&VID=2&DOC=File.PDF

• ACR Practice Guideline for the performance of Magnetic Resonance Imaging (MRI) of the Adult Spine - http://www.acr.org/s_acr/bin.asp?TrackID=&SID=1&DID=12249&CID=542&VID=2&DOC=File.PDF

• Medline Plus: Electromyography - MailScanner has detected a possible fraud attempt from "www.labtestsonline.org" claiming to be http://www.nlm.nih.gov/medlineplus/ency/article/003929.htm

• Medline Plus: Nerve conduction velocity test - http://www.nlm.nih.gov/medlineplus/ency/article/003927.htm

• Medline Plus: Nerve biopsy - http://www.nlm.nih.gov/medlineplus/ency/article/003928.htm

Diabetic Retinopathy - Investigative Work-up:

• Medline Plus:  Ophthalmoscopy - http://www.nlm.nih.gov/medlineplus/ency/article/003881.htm

• Medline Plus: Fluorescein angiography - http://www.nlm.nih.gov/medlineplus/ency/article/003846.htm

• Optical coherence tomography—principles and applications: In diabetic macular oedema (DME), there occurs three structural changes in the retina, namely retinal swelling, cystoid oedema and serous retinal detachment. Optical coherence tomography, which is a relatively new imaging modality and is primarily used in the research work can easily demonstrate all the three retinal structural changes. The principle of this investigative modality is that it captures the light reflected from the retinal structures and then creates a cross-sectional image of the retina. This image is comparable to the histologic picture of retina as seen with the light microscope - http://ej.iop.org/links/q67/y6nFMvp6CDFLJoYnKsxuag/r30204.pdf

• Optical coherence tomography: a brief overview - http://en.wikipedia.org/wiki/Optical_coherence_tomography

Diabetic Nephropathy - Investigative Work-up:

• American Association for Clinical Chemistry: Urinalysis - http://www.labtestsonline.org/understanding/analytes/urinalysis/glance.html

• American Association for Clinical Chemistry: Blood Urea Nitrogen - http://www.labtestsonline.org/understanding/analytes/bun/glance.html

• American Association for Clinical Chemistry: Creatinine Clearance - http://www.labtestsonline.org/understanding/analytes/creatinine_clearance/glance.html

• American Association for Clinical Chemistry: Protein Electrophoresis and Immunofixation Electrophoresis: The aim is to rule out multiple myeloma - http://www.labtestsonline.org/understanding/analytes/electrophoresis/glance.html

• Medline Plus: Renal biopsy - an overview - http://www.nlm.nih.gov/medlineplus/ency/article/003907.htm

• ACR Practice Guideline for the Performance of an Ultrasound Examination of the Abdomen or Retroperitoneum - http://www.acr.org/s_acr/bin.asp?TrackID=&SID=1&DID=12175&CID=539&VID=2&DOC=File.PDF

Autoimmune type 1 Diabetes Mellitus:

• American Association for Clinical Chemistry: Diabetes-related Autoantibodies - http://www.labtestsonline.org/understanding/analytes/diabetes_auto/glance.html

Diabetes Mellitus and Pregnancy - Investigative Work-up:

First trimester (in addition to normal prenatal laboratory tests):

 

Lab Studies:

• Haemoglobin A1C (American Association for Clinical Chemistry) - http://www.labtestsonline.org/understanding/analytes/a1c/test.html

• Blood urea nitrogen and creatinine: http://www.labtestsonline.org/understanding/analytes/bun/glance.html, http://www.labtestsonline.org/understanding/analytes/creatinine/glance.html

• Thyrotropin - http://www.labtestsonline.org/understanding/analytes/tsh/glance.html

• Free thyroxine - http://www.labtestsonline.org/understanding/analytes/t4/glance.html, http://www.labtestsonline.org/understanding/analytes/t3/glance.html

• Twenty-four–hour urine collection for protein and creatinine

• Blood sugar levels from a capillary device 4-7 times daily - http://www.nlm.nih.gov/medlineplus/ency/article/003438.htm

Imaging Studies:

• Antepartum Obstetrical Ultrasound: ACR Practice Guideline for the Performance of Antepartum Obstetrical Ultrasound - http://www.acr.org/s_acr/bin.asp?TrackID=&SID=1&DID=12185&CID=539&VID=2&DOC=File.PDF

Other Tests:

• Medline Plus:  Ophthalmoscopy - http://www.nlm.nih.gov/medlineplus/ency/article/003881.htm

Second trimester:

 

Lab Studies:

• Repeat 24-hour urine studies in women with elevated creatinine value in first trimester or 24-hour protein or creatinine clearance less than 100 mL/min.

• Repeat HbA1C.

• Blood sugar levels from capillary device 4-7 times daily in all women with diabetes.

If preeclampsia is suggested:

• Repeat 24-hour urine studies.

• Blood urea nitrogen and creatinine.

• Liver function tests - http://www.labtestsonline.org/understanding/analytes/liver_panel/glance.html

• Uric acid - http://www.labtestsonline.org/understanding/analytes/uric_acid/glance.html

• CBC count with platelets - http://www.labtestsonline.org/understanding/analytes/cbc/glance.html

• Assessment of fetal well-being with non-stress test, amniotic fluid index, fetal growth, and Doppler examination of the umbilical cord and middle cerebral artery.

Imaging Studies:

• Detailed anatomy ultrasonogram at 18-20 weeks' gestation.

• Fetal echocardiogram if HbA1C value was elevated in first trimester - http://www.med.upenn.edu/fetus/echo.htm, http://www.americanheart.org/presenter.jhtml?identifier=3005386

Third trimester:

• Growth ultrasonogram to assess fetal size every 4-6 weeks from 26-36 weeks' gestation in women with overt pre-existing diabetes.

• Growth ultrasonogram for fetal size at least once at 36-37 weeks' gestation for women with gestational diabetes mellitus (consider performing this study more frequently if macrosomia is suggested.)

• Amniocentesis for fetal lung profile if delivery is contemplated prior to 39 weeks' gestation - http://www.nlm.nih.gov/medlineplus/ency/article/003921.htm

Infant of a Diabetic Mother - Investigative Work-up:

Lab Studies:

• CBC count with platelets - http://www.labtestsonline.org/understanding/analytes/cbc/glance.html

• American Association for Clinical Chemistry: Tests for Glucose - http://www.labtestsonline.org/understanding/analytes/glucose/glance.html

• American Association for Clinical Chemistry: Magnesium level - http://www.labtestsonline.org/understanding/analytes/magnesium/glance.html

• American Association for Clinical Chemistry: Calcium level - http://www.labtestsonline.org/understanding/analytes/calcium/glance.html

• American Association for Clinical Chemistry: Bilirubin level - http://www.labtestsonline.org/understanding/analytes/bilirubin/glance.html

Imaging Studies:

• Chest X-Ray: ACR Practice Guideline for the Performance of Paediatric and Adult Chest Radiography - http://www.acr.org/s_acr/bin.asp?TrackID=&SID=1&DID=12194&CID=545&VID=2&DOC=File.PDF

• Cardiac Echocardiogram - http://www.webmd.com/hw/heart_disease/hw212692.asp

• Barium Enema: ACR Practice Guideline for the Performance of Paediatric Contrast Enema Examinations - http://www.acr.org/s_acr/bin.asp?TrackID=&SID=1&DID=12259&CID=547&VID=2&DOC=File.PDF

Diabetic Ulcers - Investigative Work-up: Besides routine investigations:

·        Medline Plus:  Plethysmography - http://www.nlm.nih.gov/medlineplus/ency/article/003771.htm

• ACR Practice Guideline for the Performance of Peripheral Arterial Ultrasound Examination Using Pulsed Doppler - http://www.acr.org/s_acr/bin.asp?TrackID=&SID=1&DID=12268&CID=539&VID=2&DOC=File.PDF

• Magnetic resonance angiography (MRA) - http://www.radiologyinfo.org/content/mr-angiography.htm

• ACR Practice Guideline for the Performance and Interpretation of CT Angiography (CTA) - http://www.acr.org/s_acr/bin.asp?TrackID=&SID=1&DID=22486&CID=546&VID=2&DOC=File.PDF

• Medline Plus: Extremity arteriography - http://www.nlm.nih.gov/medlineplus/ency/article/003772.htm

• Bone Scan: ACR Practice Guideline for the Performance of Adult and Paediatric Skeletal Scintigraphy - http://www.acr.org/s_acr/bin.asp?TrackID=&SID=1&DID=12285&CID=1074&VID=2&DOC=File.PDF

Diabetes Mellitus and Meal Planner Guide:

• National Diabetes Foundation Programme: Meal Planner Guide for Diabetics - http://www.ndep.nih.gov/diabetes/MealPlanner/en_intro.htm

• Recipes for Kids with Diabetes - http://kidshealth.org/parent/managing_diabetes/recipes/about_diabetes_recipes.html

Body Mass Index:

• - http://diabetes.niddk.nih.gov/dm/pubs/diagnosis/bmi_tbl.pdf

 

---

Document Provenance and History

Document Author: Dr. Fazal Danish

Document Created: 20th March 2006

Document Edits:

© 2006-10, www.oege.org