Alstrom's syndrome
Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs.Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder.You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.There are three types of genetic disorders:Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder.Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example.Genetic tests on blood and other tissue can identify genetic disorders.NIH: National Library of Medicine
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Diagnosis please.
Dr. Syam Sundar Patro0 Like10 Answers NCDs like heart disease, stroke, cancer, diabetes & chronic lung disease continues to be a major public health challenge in India. Chronic diseases like heart disease & cancer not only account for 63% of deaths in India but are expected to cost the country $3.55 trillion in lost economic output between 2012 and 2030. What is the major challenge for Chronic disease management in India?
Doc Insights6 Likes10 Answers- Login to View the image
33 YEAR FEMALE C/O LT. KNEE PAIN & MILD SWELLING from 2 3 months
Wahib Zaidi0 Like5 Answers - Login to View the image
#dermatologist #pediatrician *Chief Complaints* 1yr old baby boy came with c/o blister on whole body since 10 months ( age 1yr old baby) Baby is 3rd child of the couple. *History* H/o Father :- H/o balanatis since 4 months No other comorbidities Mother:- athletes foot infection
Hadi Nasir Sayyed0 Like0 Answer - Login to View the image
60 Y male having LRTI symptoms, Underwent CT CHEST , now he is recovered with the Standard Rx. But I PICKED CIRRHOTIC LIVER FINDING on CT CHEST meanwhile Patient is ASYMPTOMATIC No C/O CLD yet. I advised to do USG ABDOMEN to check for Findings of DECOMPENSATION. & LFT also appears normal On USG adomen** 1) INCREASED ECHOGENICITY of Liver 2) DILATED PORTAL VEIN I think Radiologist interpretated it as FATTY LIVER GRADE 2, but Dilated portal Vein + increased Echogenicity should be S/O CLD Life style He is NON ALCOHOLIC , NON SMOKER PT INR , HEP B , HEP C Reports are awaited.
Wahib Zaidi1 Like5 Answers