Niemann-Pick disease Types A and B – causes, symptoms, diagnosis, treatment, pathology

مرض نيمان بيك من النمط A والنمط B، أو اختصاراً NPDA و NPDB هما نمطان فرعيان من عوز السفينغومياليناز الحمضي، واختصاراً الـASM هذان هما حالتنان نادرتان موروثتان جينياً، تتصفان بعدم القدرة على تفكيك شحم يدعى بالسفينغوميالين بسبب عوز أنزيم السفينغومياليناز الحمضي هناك أيضاً مرض نيمان بيك من النمط C والذي من المعلوم أنه حاصل بسبب…

Mucopolysaccharide Storage Disease Type I: Hurler, Hurler-Scheie, and Scheie syndromes

Mucopolysaccharidosis type I, or MPS I, is a rare genetic metabolic disorder caused by deficiency of a lysosomal enzyme required to break down mucopolysaccharides. The disorder presents as a spectrum ranging from severe forms, classically known as Hurler syndrome, which are associated with life-threatening complications, to attenuated forms, classically known as Scheie syndrome or Hurler-Scheie…

COVID-19 (Coronavirus Disease 19) – causes, symptoms, diagnosis, treatment, pathology

By now you’ve probably heard of COVID-19, or coronavirus disease discovered in 2019, which is responsible for a global pandemic. Thus far the main country affected has been China, but it has spread to a number of other countries around the world to a varying degree. The virus was initially referred to as the 2019-nCoV,…

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