Pathophysiology Exam#1 pt 2

Effected Males will express the disease

Females will not express the disease

Unaffected males do not carry gene

Fathers transmit disease to daughters

X-linked disease

Protruding tongue, low set ears, poor muscle tone, short stature, congenital heart deformities, leading to intellectual delays.

Major Risk- Advanced Maternal Age

Trisomy 21 aka Down Syndrome

XXY Genotype (only found in males)

Testicular atrophy, infertility, feminization, tall stature

Treatment- Testosterone Therapy

Klinfelter Syndrome (47 XXY)

45 X0 (Only found in females)

Ovaries fail to develop or do not produce estrogen

Short stature, wide chest, congenital heart defects

Turner Syndrome (45 X0)

Human traits develop in response to more than one gene

Polygenic

Environmental influence has a role in gene expression

Multifactorial

Susceptibility of Teratogens based on time period

1) Before 3 weeks

2) 3-9 weeks

3) After 12 weeks

1) All areas

2) Organ development

3) Affects the growth of already formed organs

Tumor that grows rapidly, reproduces quickly, invasive, undifferentiated, highly vascularized, and is able to metastasize

Malignant (cancerous) Tumor

Lymphadenopathy

Pancytopenia → Decrease in all types of cells

Cachexia → Loss of body mass

Loss of appetite, and fever of unknown origin

Are all manifestations of what

Cancer

Anemia VS Polycythemia

Anemia- Low RBC

Polycythemia- High RBC

Pallor

Fatigue

Dizziness

PICA

All are symptoms of what

Anemia

What are foods that impair iron absorption

Coffee, tea, milk, fiber, carbonated beverages

What are some medications that block iron absoption

Antacids, H2 Blockers, PPI’s

What is an example of an iron malabsorption disease

Celiac’s Disease

What is the B12 vitamin used for

DNA replication

What are two major risk factors and a clinical manifestation for a B12 deficiency

Risk Factors: Gastric Bypass & Heavy Alcohol Consumption

Clinical Manifestations: Neuropathy

Spleen dysfunction & Vaso-occluisice crisis (hypoxia, fever, dehydration) are the main complications for what disease

Sickle Cell Disease

Myeloproliferative disorder of the bone marrow that produces excessive red blood cells which can lead to an increase risk of thrombosis (stroke)

Polycythemia Vera (PV)

Manifestations of Polycythemia Vera (PV)

-Elevated hemoglobin/hematocrit

-Pruritis after a hot/bath shower (itching)

-Ruddy complexion

ITP, HIT, alcohol consumption, malignancy, bone marrow dysfunction and infection all lead to what

Thrombocytopenia

Low amounts of clotting factors 7 or 9

Delayed clotting with injury

Males displaying the disease phenotype

Is an example of this X-linked recessive disease

Hemophilia

Chemotherapy and bone marrow transplant is the etiology of what disease

Neutropenia

Main teaching points for patients with Neutropenia

-Protect patients from infections by wearing PPE

-No flowers in room

-Cooked food only

Over proliferation of non-functional WBCs

Leukemia

Condition characterized by an extremely high WBC

“Blast Crisis”

Hyperleukocytocis

Impaired microvascular function that can lead to stroke or priapism.

Happens when there is Hyperleukocytocis

Leukostasis

Cancerous cells are that live in the lymph nodes

Lymphomas

Associated with Epstein Bar Virus (EBV)

Painless, firm, unilateral, lymphadenopathy located typically in the neck, armpit, or inguinal area.

Lymph nodes hurt after consuming alcohol.

B-Symptoms of weight loss, fever, fatigue and night sweats

Hodgkin’s Disease

Lymph node enlargement in the extra nodal sites of the liver, spleen, and bone marrow.

Involves both B & T Cells

Risk Factor for HIV patients

Non-Hodgkin Lymphoma

Malignancy of plasma cells due to aging

Manifestations- Lytic bone lesions, elevated calcium levels, kidney failure, and pancytopenia

Multiple Myeloma

Hemiplegia Vs Hemiparesis

Hemiplegia- Half side paralysis

Hemiparesis- Half side weakness

Paraplegia/Paraparesis

Below the waist paralysis/weakness.

(spinal cord injury)

Quadriplegia/Quadriparesis

Neck down paralysis/weakness.

(spinal cord injury)

Hypotonia Vs Hypertonia

Hypotonia- Decreased muscle tone

Hypertonia- Increased muscle tone

Hyperkinesia Vs Bradykinesia

Hyperkinesia- Excessive purposeless movements

Bradykinesia- Slowness of voluntary movements

Dykinesia Vs Tardive Dyskinesia

Dyskinesia- Involuntary movements

Tardive Dyskinesia- Involuntary movements in the face

Abnormal protrusion of the brain through an opening.

Herniation

An enzyme deficiency that can be detected soon after birth

Phenylketonuria

What are some foods to avoid if you have phenylketonuria

Any meat protein, soybeans, egg whites, and nuts

An increase of CSF or a blocked/reduced reabsorption of CSF that increases the ICP.

Ex- Big forehead in babies

Hydrocephalus

Inflammation of the meninges surrounding the brain and spinal cord due to respiratory droplets entering the body.

Meningitis

What is the bacteria that causes bacteria meningitis

Neisseria Meningitis

What are key risk populations for catching meningitis

Children less than 1 years old

College students living in dorms

What are some manifestations of meningitis

Photophobia

Nuchal Rigidity

Seizures

Sudden, transient alterations of brain functions caused by excessive and disorderly discharge of cortical neurons

Seizures

Recurrent unpredictable seizures → Epilepsy

All muscles stiffen, loss of consciousness, rhythmic shaking of limbs, loss of bladder control. Usually lasts 1-3 minutes is considered what type of seizure

Tonic-Clonic

Repetitive shock-like jerking movements on both sides of the body is an example of what type of seizure

Myoclonic

Sudden loss of muscle tone is an example of what type of seizure

Atonic

When C4 vertabrae and below get injured in a spinal cord injury, what biological systems are affected

Cardiovascular & Respiratory

Remember → Loss of function below the spinal cord injury site

Blood vessel irregularity that leads to localized brain infractions

Cerebrovascular Accidents (CVA)

Build up of fat and cholesterol (Atherosclerosis) in cerebral or carotid arteries that interfere with cerebral blood flow → Short episodes of ischemia to the brain.

< 1 hour

Symptoms: Mimic a stroke (Hemiparesis, facial droop, memory loss) but does not cause permanent neurological damage

Transient Ischemic Attack (TIA)

Sudden occlusion of a cerebral artery which leads to neurons not getting enough oxygen → reduced cerebral perfusion and brain swelling

Two categories: Thrombotic & Embolic

Ischemic Stroke

Atherosclerosis in the carotids and obstruction by a thrombus leading to an ischemia

Thrombotic Stroke

Atrial fibrillation that leads to an ischemia

Embolic Stroke

Hypertension that leads to bleeding in the brain which causes compression of brain tissue, ischemia, swelling, increased intracranial pressure, and necrosis of brain tissue.

Ex- Aneurysms & AVMs

Hemorrhagic Stroke

Permanent, non-progressing damage of motor control centers. That occur due to an injury sustained during or shortly after the birthing process.

Cerebral Palsy (CP)

How do people get Cerebral Palsy

Traumatic birth

Low birth weight babies

Premature births

What are some deficits of Cerebral Palsy

Muscle spasms

Low muscle tone

Ataxia

Plegia

Delayed milestones

Immune-mediated demyelination of neurons in the CNS.

Autoimmune destruction of myelin sheath

Plaque formation in white matter of CNS interrupts the conduction of nerve impulses.

Major Risk for Women in their 30’s and 50’s

MS

Degeneration of basal ganglia with loss of dopamine producing neurons leading to rigidity, gait disturbance, postural disturbance and small hand writing

Major Risk- Men over the age of 60

Parkinson Disease

General term for decline in mental function severe enough to interfere with a person’s ability to perform ADLs.

Manifestations of memory loss, language difficulty, and difficulty performing complex mental tasks

Example- Alzheimer Disease

Neurocognitive Disorders (NCD)

Progressive deterioration and decline of memory and cognition due to degeneration of neurons in cerebral cortex, brain atrophy, tau proteins.

Major risk for people with the APOE gene

Alzheimer Disease

What extracullar substance is present in Alzheimer’s brains

Amyloid Plaques

Little to no interest in things that once brought pleasure is called

Anhedonia

Decision making skills is called

Executive Function

Inflated self esteem, do not sleep for days, talkativeness, distractable, increased goal-directed activity, psychomotor agitation, socially disinhibited is called

Mania

Low energy, poor appetite, weight loss, decreased libido, suicidal ideation are all manifestations for what

Depressive Episodes

Cognitive disorder, loss of contact with reality

Psychosis

Firmly maintained false beliefs or misconceptions

Delusions of grandeur Vs Paranoid Delusions

Delusions

Delusions of Grandeur- Exaggerated self importance

Paranoid Delusions- Persecution, suspicion, mistrust

What is the pathophysiology of Schizophrenia

Dysregulation of dopamine transmission

What group is at the highest risk for genetic schizophrenia

Identical Twins

What are some clinical manifestations of schizophrenia

Hallucinations

Delusions

Inattention

Disorganized thinking & speech

What is the leading cause of disability in the US that is more prevalent in females aged 18-25 years old

Major Depressive Disorder (MDD)

Alternating periods of mania and depression. Can be associated with cyclical mood changes and associated with ADHD in children

Bipolar Disorder

Flashbacks from a traumatic event that is prevalent in people with military service, witnessing a violent death, or sexual trauma

Diagnosed if symptoms are lasting longer than 1 month

PTSD

Persistant, involuntary thoughts of unwanted things and repetitive ritualistic behaviors that prevent or reduce anxiety related to obsessions.

OCD

Rapid breakdown of muscles which releases myoglobin and potassium into the the extra cellular space causing renal failure, and electrolyte imbalances

Rhabdomyolysis

Etiology of Rhabdomyolysis

Person found lying on ground immobile

Crush injury from earthquake

Metabolic bone disease that results in the rate of bone resorption being greater than rate of new bone formation leading to spontaneous fractures and loss of bone mass.

Common in postmenopausal women (60+)

Osteoporosis

Noninflammatory joint disorder that leads to the loss of articular cartilage

Osteoarthritis

Autoimmune joint disease characterized by inflammation and damage to synovial membrane

Rheumatoid Arthrits

Inflammatory joint disorder pertaining to arthritis of the sacroiliac joint in the spine.

Loss of normal lumbar and thoracic spine curvature

Ankylosing Spondylitis (AS)

Muscle disorder that causes chronic joint and muscle pain, fatigue and tender points.

Manifestations- Sensitivity to touch, absence of inflammation, non-restorative sleep

Very Common in Women

Fibromyalgia

Chronic autoimmune muscle disease that affects 20-30 year old females

Manifestation- Affects the facial and neck muscles first

Myasthenia Gravis (MG)

Slow bilateral clouding of the eye lens

Etiology- Aging (65+), trauma, steriods

Manifestations- Night glare, blurred vision, altered color perception & NO PAIN

Cataracts

Sustained increase in intraocular pressure due to decreased outflow of aqueous humor and progressive vision loss.

Manifestations- Tunnel Vision & VERY PAINFUL

Glaucoma

Overgrowth of blood vessels on the macule of the retina or scarring on macule due to chronic inflammation from smoking and hypertension

Macular Degeneration

Infection of the middle ear common in children who use pacifiers, second-hand smoking, GERD.

Etiology- Bacterial or Viral followed by an upper respiratory tract infection

Manifestations- Pain with lying down, pulling on ear (pinna)

Otitis Media

Excessive accumulation of fluid in the labyrinth leading to cochlear degeneration and dysfunction of balance

Manifestations- Tinnitus, Vertigo, Hearing Loss

Meniere Disease

Partial hearing loss caused by damage to cochlear hair cells

Sensorineural Hearing Impairment