Category genetic diseases

Ehlers Danlos syndrome by A.Griguolo
genetic diseases

Ehlers Danlos syndrome by A.Griguolo

Generality Ehlers Syndrome Danlos is the medical name of a grouping of 13 genetic diseases of connective tissue, which mainly cause problems to the skin, joints and blood vessels. 12 genes are certainly involved in the onset of the different variants of Ehlers Danlos syndrome, whose task, under normal conditions, is to produce a functional collagen

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genetic diseases

I.Randi Malignant Hyperthermia

Generality Malignant hyperthermia is a severe reaction that usually occurs following the administration of some drugs used in general anesthesia. More in detail, malignant hyperthermia represents a particular pathological condition, potentially lethal, which occurs in genetically predisposed individuals following the intake of certain anesthetic drugs and / or muscle relaxants
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genetic diseases

diastasis

Generality Diastasi is the medical term that, in pathology, means the separation of two parts of the human body that are usually joined together. Diastase events usually refer to muscles or bones. If they concern the skeletal system, the resulting separation occurs without fractures. There are two main types of diastases: the abdominal diastase and the pubic diastase (or diastase of the pubic symphysis)
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genetic diseases

Cystic Fibrosis - Diagnosis and Therapy

Diagnosis and Monitoring Neonatal screening and trypsin dosage : the test consists in taking a drop of blood taken from the heel, which is generally analyzed for cystic fibrosis research. In particular, the blood sample taken is analyzed by measuring the immunoreactive trypsinogen (IRT) released by the pancreas
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genetic diseases

Cystic fibrosis

Generality Cystic fibrosis is the most common autosomal recessive disease in the Caucasian population, affecting approximately 1 individual in every 2, 500. This pathological condition is known for its harmful effects on the respiratory system, but it also affects other systems such as the digestive and reproductive systems
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genetic diseases

Fabry disease

Generality Fabry disease is a rare inherited genetic disorder caused by the mutation of the GLA gene. Figure: structure of alpha-galactosidase A. The GLA gene is located on the X chromosome and codes for an enzyme called alpha-galactosidase A. This enzyme has a fundamental role in the process of breaking down a lipid, known as globotriesosylceramide
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genetic diseases

Tuberous sclerosis

Generality Tuberous sclerosis is a genetic disease that affects several organs and tissues of the human body. For this reason, it presents a wide spectrum of symptoms, some typical of early childhood, others of adulthood. Tuberous sclerosis can be transmitted from parents to children, but it can also arise due to a spontaneous DNA mutation
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genetic diseases

Klinefelter syndrome

Klinefelter syndrome is a genetic disease that affects only males. What characterizes this disease is the presence of an extra X chromosome. This chromosome does not allow the normal development of purely male sexual characteristics during puberty. Figure: shows a summary of the main clinical manifestations of Klinefelter syndrome
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genetic diseases

Achondroplasia

Generality Achondroplasia is a cartilage disease that is one of the main causes of disproportionate dwarfism: in affected individuals, the upper and lower limbs are shorter than normal while the trunk is normal. Achondroplasia, therefore, is a disease of skeletal development. The causes of achondroplasia are genetic: causing the onset is the mutation of the FGFR3 gene, located on chromosome 4
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genetic diseases

agenesis

Generality Agenesia is the medical term that describes the complete absence of an organ, due to an incorrect embryonic development. The episodes of agenesis, therefore, are anatomical anomalies of a congenital nature. Among the organs that can be victims of agenesis, certainly deserve a quotation: the kidneys, the penis in man, the uterus and the Müllerian ducts in the woman, the upper and / or lower limbs, the corpus callosum of the encephalon and the testicles.
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