Human disease final

Cystic Fibrosis: What causes this disease/condition?

The disease is caused by a mutated cystic fibrosis Transmembrane conductance regulator gene that causes a misfolded protein

Cystic Fibrosis: Who gets it?

People with two copies of the ΔF508 mutation of the CFTR Protein

Cystic Fibrosis: how is it spread?

It's not contagious and is spread through the passing of the recessive Cystic Fibrosis gene

Cystic Fibrosis: What are the symptoms/stages of the disease?

High Cl in sweat (Cl cannot re-enter body), salty tasting skin, chronic cough, recurring lung infections/chest cold, wheezing or shortness of breath.

Pancreas inflammation and digestive problems, including constipation and blockages.

Cystic Fibrosis:How do we identify/diagnose it?

· Newborn screening for an enzyme in fetal blood

· Genetic testing for F508 CTFR mutation

· Sweat test – checking Cl levels

Cystic Fibrosis: How do we treat it?

This genetic condition can be treated by giving dietary supplements to prevent malnutrition.

You can also give adults physiotherapy to help loosen mucus via a vest.

Drugs to thin the mucus.

Patients can also be treated with antibiotics to help with persistent URIs caused by mucus.

Lung transplant if necessary,

Cystic Fibrosis: what does the cftr protein do?

CFTR Protein pumps Cl ions into secretions to water them down (concentration gradients)

Cystic Fibrosis: what does the ΔF508 (deletion mutation) do?

Results in misfolding (not found at the membrane) resulting in thicker secretions

Cystic Fibrosis: List at least 3 other things you learned about this condition

Cystic Fibrosis: inheritance pattern

Autosomal recessive disorder - Two mutated copies required for disease to manifest

Tetanus: What causes this disease/condition?

Tetanus is caused by a bacterium called Clostridium tetani (gram-positive)

Tetanus: Who gets it? Spread

Tetanus bacteria are transmitted through spores in the soil and usually contracted through a puncture wound. The germination of spores is favored by necrotic tissue and poor blood supply. Also, if a wound gets contaminated.

Tetanus: Pathophysiological details (mechanism of infection, changes in cells, etc.)

The bacteria enter a deep wound or any wound not kept clean and then replicate anaerobically in low oxygen areas. The bacteria secrete tetanospasmin, which enters the local motor neurons and destroys the SNARE complex in inhibitory interneurons. This prevents exocytosis of inhibitory neurotransmitters. This causes amplified muscle contractions.

Tetanus: How do we treat it?

Clean the wound; very deep wounds may need surgical intervention for complete sterilization.

Antibiotics to treat bacterial infection.

Tetanus immune globulin (TIG)- extra antibodies to bind muscle toxin.

Muscle relaxers also help and they might medically induce a coma until toxin is cleared and interneurons are rebuilt.

Tetanus: Can we Prevent it? If so, how? If not, why?

Yes, get the Tetanus Vaccine!!!

Tetanus: List at least 3 other things you learned about this condition

In 1884, Nicolair produced tatanus in animals by injecting them with samples from the soil.

Also in 1897, Nocard showed passive immunization in humans, which was used in world war 1.

A tetanus toxoid was developed by P. Descombey, which was used in world war 2.

Tetanus: How do we identify/diagnose it?

Spasms of facial muscles: Fixed smile and elevated eyebrows
Tonic spasms
Jaw stiffness

Rabies: •What causes this disease/condition? (Infectious agent, genetic condition, identify the gene)

Rhabdovirus

Rabies: Who gets it? If it is contagious, how is it spread?

a zoonotic disease (spread between animals and people), passed through saliva (infected animal bites). Not spread through people

Rabies: Pathophysiological details (mechanism of infection, changes in cells, etc.)

Rabies bite -> saliva containing virus ends up in muscle which travels through motor neurons via neuromuscular junction (NMJ) into the spinal cord and brain. Here, the virus multiples rapidly and is then cycled back into the body, primarily invading the salivary glands.

Rabies: What are the symptoms/stages of the disease?

The incubation period in humans lasts approximately 20-60 days. Initial flu-like symptoms include fever, anxiety, malaise, as well as tingling, tenderness, and inflammation around the bite site.

After ~2-10 days, neurological signs, which include hyperactivity and paralysis.

Disease is divided into two forms: encephalitic and paralytic. Encephalitic symptoms include personality changes, confusion, hydrophobia, aerophobia, hyperventilation, hypersalivation, priapism, and convulsions. Encephalitic symptoms are episodic.

Paralytic form is caused by damage to the hypothalamus and primarily affects organ function

Rabies: How do we identify/diagnose it?

It is diagnosed in animals post-mortem by analyzing brain and salivary samples. Humans are diagnosed through several diagnostic tests (saliva/sputum samples, spinal tap, tissue samples from the base of the neck).

Rabies: How do we treat it?

It is important to wash the wound with soap + water and sterilize it immediately. Vaccination is given after exposure which involves 4 injections across 4 days. There are no further treatments available once symptoms start to appear.

Rabies: Can we Prevent it? If so, how? If not, why?

Vaccinate pets, avoid rabid animals

Rabies: List at least 3 other things you learned about this condition

The original Rabies vaccine which was used by Louis Pasteur in 1885 contained ground-up, dried rabbit spinal cords from dead infected animals

Human-to-human contraction of Rabies is very rare and has only been seen in cornea transplants (and other organs)

Domestic animal vaccinations for Rabies are required by law

Syphilis: What causes this disease/condition?

A bacteria called Treponema pallidum

Syphilis: Who gets it?

Contagious through skin to skin contact with chancre sores. During vaginal, anal, or oral sex, or any other form of skin to skin

Syphilis: What are the symptoms/stages of the disease? Be clear and specific about the timeline and symptoms at each stage.

Primary syphilis: symptoms appear 3 weeks after infection, chancre sores appear at the site of contact and are filled with spirochetes, sores last 3-6 weeks before they heal.

Secondary syphilis: 6-12 weeks after infection, spirochetes get into blood and into lymph nodes, infects cells near skin surface and causes maculopapulor rash, symptoms go away after several weeks to months.

Tertiary syphilis can appear 10-30 years later, and cause cardiovascular and neuro-syphilis

Syphilis: How do we identify/diagnose it?

Identification available is through blood testing. X-rays, eye exams, and hearing test is also available for comparison (between mom and baby) for Congenital syphilis

Syphilis: How do we treat it?

A single dose of penicillin for primary, secondary or latent stages of syphilis.

Syphilis: How can we prevent it?

Safe sex.

Syphilis: List at least 3 other things you learned about this condition

syphilis was present in the Americas however it may have been brought back to Europe by Columbus
Name came from the poet named Fracastoro in 1530
Mercury rubbed onto skin (most patients died of mercury poisoning)

Syphilis: Pathophysiliogy