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Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

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Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
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Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the...
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Huntington Disease l: Introduction01:21

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
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Lynch syndrome 101 (years, that is).

Noralane M Lindor1

  • 1From the Department of Health Sciences Research, Mayo Clinic, Scottsdale, AZ.

American Society of Clinical Oncology Educational Book. American Society of Clinical Oncology. Annual Meeting
|May 27, 2014
PubMed
Summary

Lynch syndrome, a genetic disorder, has evolving management strategies. This overview details cancer risks and optimal care based on specific genes and cancer types.

Area of Science:

  • Genetics and Oncology
  • Hereditary Cancer Syndromes

Background:

  • Lynch syndrome, a hereditary cancer predisposition, has been known for over a century.
  • Ongoing research continually refines understanding of its medical consequences and management.

Observation:

  • Cancer penetrance varies significantly depending on the specific gene mutation within Lynch syndrome.
  • Cancer development also shows site-specific patterns influenced by the underlying genetic defect.

Findings:

  • This overview synthesizes current knowledge on gene-specific cancer risks.
  • It also outlines recommended management strategies tailored to Lynch syndrome patients.

Implications:

  • Optimized surveillance and management protocols can improve outcomes for individuals with Lynch syndrome.

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  • Understanding gene and site-specific risks is crucial for personalized cancer prevention and early detection.