ECM DPT.2.pptx
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Fibrillin-1 is a protein encoded by the FBN1 gene that serves as a structural component of microfibrils in the extracellular matrix. Mutations in the FBN1 gene cause Marfan syndrome, a genetic disorder of the connective tissue that affects multiple systems of the body. Common features of Marfan syndrome include tall stature, long limbs, scoliosis, heart issues, extreme nearsightedness, and dural ectasia. The condition is caused by an inability to properly produce proteins necessary for building connective tissue due to an FBN1 gene mutation.
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ECM DPT.2.pptx
The document discusses the extracellular matrix and Marfan syndrome. It describes fibrillin-1 as a protein that forms microfibrils and is encoded by the FBN1 gene. Marfan syndrome is caused by mutations in the FBN1 gene, resulting in abnormalities in connective tissue. Common features of Marfan syndrome include being tall and thin with disproportionately long limbs, as well as issues with the heart, eyes, lungs and bones.
4.marfansyndrome
- Marfan syndrome is a genetic disorder of the connective tissue that affects the heart, blood vessels, eyes, lungs, bones and skin. It is caused by mutations in the FBN1 gene which encodes fibrillin-1, an important protein in connective tissue.
- Common characteristics include tall stature, long limbs, curved spine, dislocated lenses of the eyes and a weakened aorta which can dilate and dissect. Treatment focuses on monitoring for cardiovascular complications and using beta blockers to protect the heart. Surgery may be needed to repair the aorta or valves. Regular eye exams are also important to check for retinal detachment.
12. cobey marfan syndrome
Marfan Syndrome is a genetic disorder of the connective tissue that is inherited in an autosomal dominant pattern. It is caused by mutations in the FBN1 gene which encodes the protein fibrillin-1. Common signs include tall stature, long limbs, long fingers, joint laxity, scoliosis, chest deformities, eye problems like nearsightedness, and aortic root dilation. Dentally, patients often have a high-arched palate, crowded teeth, and may require orthodontic or orthognathic treatment. Surgery must be carefully coordinated with a cardiologist due to risks of aortic complications.
Marfan syndrome
Marfan Syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene resulting in skeletal, ocular, and cardiovascular abnormalities. It is characterized by disproportionately long limbs, joint hypermobility, eye problems like ectopia lentis, and life-threatening issues like aortic aneurysm. Diagnosis is based on clinical assessment using systemic criteria. Management focuses on surveillance and prevention of complications through beta-blockers, surgery, and potentially losartan which may help slow aortic root growth. Prognosis has improved with current treatments but cardiovascular events remain common.
Marfan syndrome
Marfan syndrome is an autosomal dominant genetic disorder of connective tissue that affects many parts of the body including the heart, blood vessels, bones, lungs and eyes. It is caused by mutations in the FBN1 gene which results in abnormal production of fibrillin-1, an important component of connective tissue. Common features include tall stature, long limbs, curved spine and eye problems. Treatment focuses on managing cardiovascular complications through beta blockers and surgery as well as correcting skeletal abnormalities. Current research aims to better understand the genetic basis of Marfan syndrome and related disorders to improve diagnosis and treatment.
Presentation1 mfs
What is Marfan Syndrome(MFS)??
What cause Marfan Syndrome (MFS)?
Physical characteristic of MFS in people.
Diagnosis of Marfan Syndrome.
Treatment of Marfan Syndrome.
Famous people with Marfan Syndrome.
Marfan syndrome ppt.
Marfan syndrome is a disorder of the connective tissue that affects the skeleton, eyes, cardiovascular system, and other areas. It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1 that is important for connective tissue strength and flexibility. Marfan syndrome is inherited in an autosomal dominant pattern, so if one parent has it there is a 50% chance their child will have it as well. While there is no cure, treatment focuses on managing symptoms and complications through monitoring by specialists and may include surgeries or medicines.
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ECM DPT.2.pptx
The document discusses the extracellular matrix and Marfan syndrome. It describes fibrillin-1 as a protein that forms microfibrils and is encoded by the FBN1 gene. Marfan syndrome is caused by mutations in the FBN1 gene, resulting in abnormalities in connective tissue. Common features of Marfan syndrome include being tall and thin with disproportionately long limbs, as well as issues with the heart, eyes, lungs and bones.
4.marfansyndrome
- Marfan syndrome is a genetic disorder of the connective tissue that affects the heart, blood vessels, eyes, lungs, bones and skin. It is caused by mutations in the FBN1 gene which encodes fibrillin-1, an important protein in connective tissue.
- Common characteristics include tall stature, long limbs, curved spine, dislocated lenses of the eyes and a weakened aorta which can dilate and dissect. Treatment focuses on monitoring for cardiovascular complications and using beta blockers to protect the heart. Surgery may be needed to repair the aorta or valves. Regular eye exams are also important to check for retinal detachment.
12. cobey marfan syndrome
Marfan Syndrome is a genetic disorder of the connective tissue that is inherited in an autosomal dominant pattern. It is caused by mutations in the FBN1 gene which encodes the protein fibrillin-1. Common signs include tall stature, long limbs, long fingers, joint laxity, scoliosis, chest deformities, eye problems like nearsightedness, and aortic root dilation. Dentally, patients often have a high-arched palate, crowded teeth, and may require orthodontic or orthognathic treatment. Surgery must be carefully coordinated with a cardiologist due to risks of aortic complications.
Marfan syndrome
Marfan Syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene resulting in skeletal, ocular, and cardiovascular abnormalities. It is characterized by disproportionately long limbs, joint hypermobility, eye problems like ectopia lentis, and life-threatening issues like aortic aneurysm. Diagnosis is based on clinical assessment using systemic criteria. Management focuses on surveillance and prevention of complications through beta-blockers, surgery, and potentially losartan which may help slow aortic root growth. Prognosis has improved with current treatments but cardiovascular events remain common.
Marfan syndrome
Marfan syndrome is an autosomal dominant genetic disorder of connective tissue that affects many parts of the body including the heart, blood vessels, bones, lungs and eyes. It is caused by mutations in the FBN1 gene which results in abnormal production of fibrillin-1, an important component of connective tissue. Common features include tall stature, long limbs, curved spine and eye problems. Treatment focuses on managing cardiovascular complications through beta blockers and surgery as well as correcting skeletal abnormalities. Current research aims to better understand the genetic basis of Marfan syndrome and related disorders to improve diagnosis and treatment.
Presentation1 mfs
What is Marfan Syndrome(MFS)??
What cause Marfan Syndrome (MFS)?
Physical characteristic of MFS in people.
Diagnosis of Marfan Syndrome.
Treatment of Marfan Syndrome.
Famous people with Marfan Syndrome.
Marfan syndrome ppt.
Marfan syndrome is a disorder of the connective tissue that affects the skeleton, eyes, cardiovascular system, and other areas. It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1 that is important for connective tissue strength and flexibility. Marfan syndrome is inherited in an autosomal dominant pattern, so if one parent has it there is a 50% chance their child will have it as well. While there is no cure, treatment focuses on managing symptoms and complications through monitoring by specialists and may include surgeries or medicines.
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Acne is a common skin condition that occurs when hair follicles become clogged with oil and dead skin cells. It typically manifests as pimples, blackheads, or whiteheads, often on the face, chest, shoulders, or back. Acne can range from mild to severe and may cause emotional distress and scarring in some cases.
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1. **Excess Oil Production:** Hormonal changes during adolescence or certain times in adulthood can increase sebum (oil) production, leading to clogged pores.
2. **Clogged Pores:** When dead skin cells and oil block hair follicles, bacteria (usually Propionibacterium acnes) can thrive, causing inflammation and acne lesions.
3. **Hormonal Factors:** Fluctuations in hormone levels, such as during puberty, menstrual cycles, pregnancy, or certain medical conditions, can contribute to acne.
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- **Papules:** Small red, tender bumps.
- **Pustules:** Pimples with pus at their tips.
- **Nodules:** Large, solid, painful lumps beneath the surface.
- **Cysts:** Painful, pus-filled lumps beneath the surface that can cause scarring.
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Treatment depends on the severity and type of acne but may include:
- **Topical Treatments:** Such as benzoyl peroxide, salicylic acid, or retinoids to reduce bacteria and unclog pores.
- **Oral Medications:** Antibiotics or oral contraceptives for hormonal acne.
- **Procedures:** Such as chemical peels, extraction of comedones, or light therapy for more severe cases.
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- **Cleanse:** Regularly wash skin with a gentle cleanser.
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- **Avoid Irritants:** Such as harsh cosmetics or excessive scrubbing.
- **Sun Protection:** Use sunscreen to prevent exacerbation of acne scars and inflammation.
Acne treatment can take time, and consistency in skincare routines and treatments is crucial. Consulting a dermatologist can help tailor a treatment plan that suits individual needs and reduces the risk of scarring or long-term skin damage.
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- 1. THE EXTRACELLULAR MATRIX Dr. Aina Khurshid MBBS, MPhil biochemistry, CHPE, PhD Scholar Assistant. Prof of BIOCHEMISTRY MMDC Multan
- 19. Fibrillin-1 • Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. • It is a large, extracellular matrix glycoprotein that serves as a structural component of 10-12 nm calcium-binding microfibrils.
- 20. Marfan syndrome • Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. • Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have overly-flexible joints and scoliosis.
- 21. Marfan syndrome features • Tall and slender build. • Disproportionately long arms, legs and fingers. • A breastbone that protrudes outward or dips inward. • A high, arched palate and crowded teeth. • Heart murmurs. • Extreme nearsightedness. • An abnormally curved spine. • Flat feet.
- 22. Causes • Marfan syndrome is caused by a mutation in a gene called FBN1. The mutation limits the body's ability to make proteins needed to build connective tissue. • One in four people with Marfan syndrome develops the condition for unknown reasons. A person with Marfan syndrome has a 1 in 2 chance of passing it on to their child
- 36. Function of ECM
- 42. Elastin
- 43. Elastin
- 61. Fibrillin
- 62. Fibrillin
- 63. Fibrillin