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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Cellular Adaptation II: Hypertrophy01:26

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Hypertrophy is the increase in the size of individual cells, resulting in the enlargement of a tissue or organ. Unlike hyperplasia, which involves an increase in cell number, hypertrophy is characterized by an increase in cell volume. This process often occurs in response to higher functional demand or hormonal stimulation, leading to the production of more structural proteins and organelles, thereby enhancing the cells' work capacity.There are two primary types of hypertrophy:...
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Osteoclasts are cells responsible for bone resorption and remodeling. They originate from hematopoietic progenitor cells present in the bone marrow. Numerous progenitor cells fuse to form multinucleated cells, each with 10-20 nuclei. A single osteoclast has a diameter of 150 to 200 µM. These cells have ruffled borders that break down the underlying bone tissue and release minerals such as calcium into the blood in bone resorption. Osteoclasts cling to bones with their ruffled edges during...
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Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
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Growth of Cartilage and Bone Tissue01:27

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Chondrocytes form a temporary cartilaginous model by dividing and secreting a thick gel-like extracellular matrix. Once the chondrocytes undergo programmed cell death, osteoblasts enter the site of the cartilaginous model. The process of replacing the temporary cartilaginous model with bone in an ordered manner is called endochondral ossification. In endochondral ossification, not all of the cartilage is replaced by bone tissue. Some cartilage that performs a protective and supportive function...
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Bone Disorders01:29

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Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
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A Reproducible Cartilage Impact Model to Generate Post-Traumatic Osteoarthritis in the Rabbit
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Primary hypertrophic osteoarthropathy.

Abdul Khalid, Muhammad Tariq Baqai

    JPMA. the Journal of the Pakistan Medical Association
    |September 27, 2014
    PubMed
    Summary
    This summary is machine-generated.

    Two siblings were diagnosed with familial primary hypertrophic osteoarthropathy, a rare genetic disorder. This condition, characterized by bone and joint overgrowth, also affected their father, indicating a hereditary pattern.

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    Area of Science:

    • Genetics
    • Orthopedics
    • Rare Diseases

    Background:

    • Familial primary hypertrophic osteoarthropathy (FPHO) is a rare autosomal dominant disorder.
    • It is characterized by progressive skeletal and joint overgrowth, digital clubbing, and pachydermia.
    • Genetic mutations in genes such as SLCO2A1 have been implicated in FPHO.

    Observation:

    • This report details two cases of FPHO within a single family.
    • A brother and sister presented with clinical features consistent with FPHO.
    • A history of similar symptoms in their father suggests a familial inheritance pattern.

    Findings:

    • The affected siblings exhibited characteristic signs of hypertrophic osteoarthropathy.
    • The family history strongly supports a genetic basis for the condition in this lineage.
    • Further genetic analysis could identify the specific mutation responsible in this family.

    Implications:

    • Understanding the genetic underpinnings of FPHO is crucial for accurate diagnosis and genetic counseling.
    • Early identification of affected individuals can lead to timely management of symptoms.
    • This case series contributes to the limited literature on FPHO, particularly regarding its familial transmission.