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Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
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Disorders of the Autonomic Nervous System01:18

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The autonomic nervous system (ANS) is an intricate network of nerves that controls functions such as the regulation of heart rate, digestion, and blood pressure regulation. When this system malfunctions, it can lead to various disorders that affect multiple bodily functions. One common feature of many autonomic disorders is the involvement of smooth blood vessels, which play a crucial role in regulating blood flow throughout the body.
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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Updated: Nov 25, 2025

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Nasu-Hakola Disease.

Young Woo Sim1, Sungjun Moon2

  • 1Yeungnam University Medical Center, KR.

Journal of the Belgian Society of Radiology
|December 18, 2020
PubMed
Summary

Nasu-Hakola disease (NHD) causes bone cysts and dementia. This rare genetic disorder affects the brain and skeleton, impacting cognitive function and bone health.

Area of Science:

  • Neurology
  • Genetics
  • Skeletal Diseases

Background:

  • Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder.
  • It is characterized by presenile dementia and bone cysts.

Observation:

  • Patients present with progressive cognitive decline.
  • Skeletal surveys reveal multiple bone cysts, particularly in the appendicular skeleton.

Findings:

  • NHD is linked to mutations in the TREM2 or TYROBP genes.
  • These genetic defects disrupt microglial function and bone metabolism.

Implications:

  • Understanding NHD pathogenesis can inform treatments for dementia and bone disorders.
  • Early diagnosis and genetic counseling are crucial for affected families.
Keywords:
Multiple bone cystsNasu-Hakola diseasePresenile dementia

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