1. "Open-label study": Both the participants and the researchers know which treatment is being administered. This design is typically used when it’s not practical or ethical to hide the treatment from the participants, such as in surgical procedures or lifestyle interventions. 2. "Blinded study (single-blind)": In a single-blind study, only the participants are unaware of whether they are receiving the experimental treatment or a placebo (or the standard …

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      Revised Threshold A "revised threshold" refers to an updated or adjusted level or criterion used in medical practice or pharmacology, often based on new research, clinical guidelines, or evidence. This could pertain to various measurements, such as diagnostic test results, treatment initiation criteria, or drug dosage limits. For example, if new research suggests that lower blood pressure targets reduce cardiovascular risk, the threshold for initiating antihypertensive therapy …

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  1. Cohort studies are a type of longitudinal study—an approach that follows research participants over a period of time (often many years). Specifically, cohort studies recruit and follow participants who share a common characteristic, such as a particular occupation or demographic similarity.   2. An exome is the sequence of all the exons in a genome, reflecting the protein-coding portion of a genome. In humans, the exome is about …

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   This article is simplified from English Wikipedia. https://en.wikipedia.org/wiki/Exon_skipping  Exon skipping is a molecular biology technique used to address genetic mutations by causing cells to bypass defective sections (exons) of the genetic code. This process involves manipulating RNA splicing, specifically targeting mutations in the pre-messenger RNA.    Genes contain coding regions called exons, which provide instructions for protein creation, separated by non-coding introns. Exon skipping aims to restore the reading …

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DYSF (Dysferlin): Dysferlin is a protein associated with Miyoshi Myopathy and Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B). Dysferlin plays a crucial role in muscle membrane repair and regeneration. Mutations in the DYSF gene lead to deficiencies in dysferlin, resulting in impaired membrane repair mechanisms and progressive muscle degeneration. Individuals with dysferlinopathies, including Miyoshi Myopathy and LGMD2B, typically experience weakness in the proximal muscles, particularly in the shoulder and pelvic girdle …

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Skeletal Muscle FSHD (Facioscapulohumeral Muscular Dystrophy): Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder characterized by progressive muscle weakness and atrophy, predominantly affecting the muscles of the face, shoulders, and upper arms. FSHD is associated with a contraction of the D4Z4 repeat sequence on chromosome 4, leading to decreased repression of the DUX4 gene. Abnormal expression of the DUX4 gene is thought to contribute to muscle degeneration in FSHD. This …

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1. LGMD2I (Limb-Girdle Muscular Dystrophy Type 2I - FKRP Deficiency): LGMD2I is a subtype of limb-girdle muscular dystrophy characterized by muscle weakness and wasting, particularly affecting the muscles around the shoulders and hips. It is caused by mutations in the FKRP gene, leading to a glycosylation defect. This defect interferes with the proper glycosylation of alpha-dystroglycan, a protein crucial for maintaining muscle cell structure and function. The compromised glycosylation results …

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1. ZNF9 (Zinc Finger Protein 9): Mutations in the ZNF9 gene are associated with a type of myotonic dystrophy. Similar to DM1 and DM2, it involves muscle weakness and myotonia, but it represents a distinct genetic cause.   2. BMD (Becker Muscular Dystrophy): BMD is an X-linked recessive genetic disorder caused by mutations in the dystrophin gene. It shares similarities with Duchenne Muscular Dystrophy (DMD) but generally has a later …

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1. DM1 (Myotonic Dystrophy Type 1): DM1 is a genetic disorder characterized by progressive muscle wasting and weakness. It is an autosomal dominant condition caused by an expanded CTG trinucleotide repeat in the DMPK gene. Individuals with DM1 may experience myotonia (prolonged muscle contraction), weakness in facial and distal muscles, cardiac issues, and intellectual impairment.   2. DM2 (Myotonic Dystrophy Type 2): Similar to DM1, DM2 is an autosomal dominant …

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