Niemann-Pick disease Type C – causes, symptoms, diagnosis, treatment, pathology

Niemann-Pick disease type C, or NPC, is a rare genetically inherited condition caused by mutations in either the NPC1 or NPC2 genes. These mutations impair intracellular transport of cholesterol and other molecules, which causes progressive neurologic and developmental problems. Now, cholesterol reaches the cells packed in lipoproteins, which bind to low density lipoprotein, or LDL,…

Gaucher disease – causes, symptoms, diagnosis, treatment, pathology

Gaucher disease is an inherited condition characterized by insufficient levels of the enzyme glucocerebrosidase, also called beta-glucosidase. It’s named for the French physician, Philippe Gaucher, who first described the condition. Glucocerebroside is a glycolipid, which is a molecule containing both sugar and fat, that’s included in the membrane of many different cells. Glucocerebroside is formed…

Fabry disease – causes, symptoms, diagnosis, treatment, pathology

Fabry disease is a rare X-linked condition caused by mutations or pathogenic variants in the GLA gene that codes for a lysosomal enzyme called alpha galactosidase A or alpha-gal A. The alpha-gal enzyme normally breaks down large molecules called globotriaosylceramide or GL3 and other glycosphingolipids, so that small parts of the big molecules can be…

Exercises for sciatica: spinal stenosis | NHS

EXERCISES FOR SCIATICA SPINAL STENOSIS My name is Sammy Margo. I’m a chartered physiotherapist. Today we’re going to look at exercises for spinal stenosis. The main aim of spinal stenosis exercises is to strengthen the surrounding area, gap the joints, improve the scaffolding and just ensure that the area is strong, stable and we’ve gapped…

Anemia of chronic disease

Learning medicine is hard work! Osmosis makes it easy. It takes your lectures and notes to create a personalized study plan with exclusive videos, practice questions and flashcards, and so much more. Try it free today! Anemia of chronic disease refers to a low red blood cell, or RBC, count that may be associated with…

Rickettsia rickettsii & other Rickettsia species – causes, symptoms, diagnosis, treatment, pathology

The Rickettsiae are a genus of Gram-negative coccobacilli, which includes two major groups of bacteria. First, there’s the spotted-fever group, the main species in this group is Rickettsia rickettsii, which causes a disease called Rocky Mountain spotted fever. Second, there’s the typhus group of Rickettsia species – which cause different forms of typhus. This group…

Pompe Disease | Glycogen Storage Disease Mnemonic for USMLE

small auto=autosomal recessive sugar storage=glycogen storage disease acidic malt liquor=defective acid maltase acid maltase=α-1,4-glucosidase ice-sosomes=lysosomes large heart=cardiomegaly / HCM exercise intolerance / respiratory difficulty exercise intolerance / respiratory difficulty limb–girdle muscle weakness pink ice-osome=PAS+ lysosome

CANCER DISEASE or MEDICAL CONDITION? – STRESS and CANCER- Dr. Bruce Lipton (eye-opening video)

If you believe genes control your life you’re a victim of your heredity. There is NO CANCER GENE. There is NO GENE, that CAUSES CANCER. NOT ONE. There’s only about seven diseases that are caused by one gene, such as hemophilia, cerebral palsy another one, tay-sachs disease is one. So you got about seven major…

British Heart Foundation – Family history and heart disease

I am Anil Gumber. I live in Leamington Spa. I am 54 years old. I have a beautiful wife and two lovely children. I was born and brought up in India. I came to the UK in October, 2001. I have got a family history of diabetes. My grandfather was diabetic. My father was suffering…

Pompe disease – causes, symptoms, diagnosis, treatment, pathology

Pompe disease, also called glycogen storage disease type II, is a genetically inherited condition caused by insufficient functioning of an enzyme called lysosomal acid alpha-1,4-glucosidase, or just acid alpha-glucosidase, due to a mutation of the GAA gene. It’s named after the Dutch pathologist, Dr. J.C. Pompe, who first described it in 1932. Glucose is used…