HOSA PATHOPHYSIOLOGY: COMPLETE SET

Acquired immunodeficiency syndrome:

 caused by the HIV (human immunodeficiency virus), which attacks T cells and CD4 cells of the immune system. 

• Low T-cell count, recurrent infections, susceptibility to opportunistic infections such as pneumonia, flu-like symptoms such as a high fever, malaise, rash, headache, and fatigue. 

• Treatment includes the following: nucleoside reverse transcriptase inhibitors as well as non-nucleoside reverse transcriptase , protase, and tenofovir are all treatment options. 

• Conditions that can occur as a result of AIDS: colitis, encephalitis, lymphadenopathy, and lymphoma. 

• Prevention: limit sexual activity and maintain a clean environment/limit transfer of bodily fluids. 

• Transfer: sexual activity, blood, vertical/utero/placenta. 

Selective immunoglobulin A deficiency

fail to produce normal levels of IgA

typically asymptomatic, but IgM levels tend to surge as a compensatory response

symptoms/signs → recurrent sinopulmonary ifnections, autoimmune disease, and GIt infections

food allergies/autoimmune disease are common in selective immunoglobulin A deficiency

in chodlren → sinusitis, otitis media, and pneumonia

insividuals with selective immunglobulin A deficiency also tend to have poor reactions to blood transfusions

Severe combined immunodeficiency syndrome (Bubble Boy disease):

 SCID syndrome, otherwise known as bubble boy disease, results from a combination of disturbances to t-cell development. Because T-cells are crucial for B-cells producing antibodies, this syndrome can result in the absence of cell-mediated and antibody-mediated immunity. SCID syndrome appears to occur primarily in children, 3-6 months old (??).

Severe combined immunodeficiency syndrome, or bubble boy disease, can either be x-linked or autosomal recessive. SCID syndrome is caused by a genetic mutation to the genes that allow for stem cell differentiation of the T and B cells. 

• Absence of thymic shadow in chest radiography in children. 

• Recurrent infections 

• Diarrhea 

• Hypogammaglobulinemia 

• Low or absent T-cells 

• Immunoglobulin supplementation 

• Bone Marrow Transplant 

• Prophylaxis

• Busulfan to stimulate the production of T cells and B cells via stem cell differentiation

• The United States now prompts all newborns to be examined for severe combined immunodeficiency syndrome (via t-cell response, t-cell presence, etc). 

Prognosis could be good with treatment, but could result in death , if not receiving the treatment. 

Multiple sclerosis

this is a chronic autoimmune disease of the CNS. In this disease, the myelin sheath of neurons becomes scarred (sclerosis) debilitating the nerves. Some symptoms of this disease include the following: fatigue, diplopia, numbness in the extremities, hearing loss, optic neuritis, difficulty with urination (leading to frequent urinary tract infections), and vertigo.  

Relapsing remitting: relapses followed by recovery with no neurologic dysfunction between relapses. 

Primarily progressive: disease progresses with no remissions. 

Secondary progressive: disease begins as relapsing-remitting but later becomes progressive with few remissions. 

Progressive relapsing: progressive disease from the onset with relapses and disease progression during the period between relapses. 

MS continued

Relapse: symptoms become exacerbated/flare up. 

Remission:subsequently occurs, and symptoms partially or completely improve and the disease stabilizes. 

• Multiple sclerosis is more common in women than it is in men. It appears more in white populations. It occurs typically between the ages of 20 and 60. 

• Multiple sclerosis is primarily diagnosed via MRI scan. It can also be diagnosed via examination of CSF for elevated immunoglobulin levels. 

• Corticosteroids are used to treat MS, Avenex, Betaseron, and Tysabri are also used. 

Betaseron and Avonex are both injectable. Corticosteroids are usually only effective within the first few months of MS/diagnosis/onset. Tysabri is used to decrease flare-ups). 

MS can also be treated symptomatically, meaning it might differ based on the state the individual is in with MS. 

• Prognosis is good, with an estimated 30 years of life expectancy. Prognosis is better for young girls onset at a young age, and also with relapsing MS versus progressing MS. 

Ankylosing spondylitis:

 this is an inflammatory disease impacting the sacral region of the spine of men, typically. Treatment is usually physical therapy and antiinflammatory medication. This disease is idiopathic for the most part, however, there are some presumptions that genetics could predispose an individual to AS. HLA-B27 positive is a possible indicator of AS. Squaring of the vertebrae. Pain tenderness, photophobia, fatigue, weight loss, fever, and/or diarrhea. 

 X-linked agammaglobulinemia:

occurs in males only, and it is when there is a near absence of immunoglobulins circulating within the body. This is the failure to produce mature B-cells, and thus antibodies. This results in the absence of antibody-mediated immunity. It is also called Bruton’s disease because this disease is caused by a mutation of Bruton’s gene. Treatment includes aggressive antibiotic use when infections occur, and also immunoglobulin replacement (therapy?). Bacterial infections such as otitis media (chronic ear infections), sinusitis, conjunctivitis, and pneumonia are common in someone with XAG. 

Key pathogens: 

• S. pneumoniae

• H. influenzae

Idiopathic thrombocytopenic purpura

: this is when the immune system mistakenly destroys the thrombocytes/platelets in the body. This can lead to difficulty with blood clotting, and also results in “random” red spots, which are the result of un-clotted blood, on the skin’s surface. 

Autoimmune hemolytic anemia:

:The immune system releases antibodies into the bloodstream which target and destroy the red blood cells. This results in anemia. Characterized by fatigue, jaundice, and dark urine. Treat with corticosteroids. 

Pernicious anemia

This is when there is too little hydrochloric acid in the body, decreasing the intrinsic factor, which is crucial for vitamin B12 absorption, and so this results in anemia. Vitamin b12 is crucial for the development and production of red blood cells, so when the intrinsic factor decreases, vitamin B12 absorption follows. This is accompanied by pale skin and fatigue. This can be treated with vitamin B12 supplements. 

DiGeorge anomaly syndrome

hyoplasia of the thymus, increases the risk of heart defects in children, lack of T-cells, low set ears, hooded eyes, small jaw, cleft plate, deletion syndrome of chromosome 22, learning disabilities, and walking difficulties. 

Common Variable Immunodeficiency (Acquired Hypogammaglobulinemia):

a lack of immunoglobulins. Issues with B-cell production and development. Caused by genetic mutation and sporadic. Life-long immunoglobulin replacement is necessary for treatment and antibiotic administration because humoral immunity becomes impaired

• individuals with common variable immunodeficiency/acquired hypoagammaglobulinemai— lack of b cells— has a history of chronic or recurrent infections such as pneimpnia, bronchitis, sinusitis, and otitis media.

CHRONIC LUNG DISEASE AND GRANULAMTOUS DISEASE (formation of granulomas (small localized clumps of macrophages that the immune system uses to wall off certain pathogens it cannot eliminate)) are COMMON.

incidence peak

18-25 years old

1-5 years old

Wiskott-Aldrich syndrome:

- X-linked, recessive disorder (ONLY AFFECTS MALES) that is characterized by inadequate B and T cell function, thrombocytopenia, and eczema
- S/S: Eczema, thrombocytopenia, excessive bleeding (petechiae, purpura, hematemesis, epistaxis, hematuria, and more serious GI and intercranial bleeding
- Mutations in the gene producing Wiskott- Aldrich syndrome proteins (WASPs)
- Thymus is normal at birth, but gets smaller over time, resulting in decreased B and T cell functions
- Treatment: Bone marrow transplant is the only curative therapy, splenectomy may increase platelet number

Myasthenia Gravis:

 miscommunication between CNS and PNS, due to autoantibodies targeting the acetylcholine within the neuromuscular junction/receptors. Anticholinesterase could be prescribed. 

Systemic Lupus Erythematosus (hypersensitivity III):

free-floating antibodies in the blood (IgG and IgM) release deposits on tissues that damage them and cause inflammation. This is systemic, as it impacts all the body systems. Characteristic butterfly rash, inflammation of connective tissue, reynaud’s phenomenon tingling, discoloration, and/or numbness in the hands), fever, fatigue. SLE occurs more in women (30-40). Prednisone and nonsteroidal antiinflammatory drugs (NSAIDs)

Sjogren Syndrome

- Manifests in the moisture secreting glands of the body--> results in dryness in the affected areas
- S/S: Xerostomia, toconjunctivitis sicca (dry cornea/dry eye), causes difficulty talking, chewing, or swallowing, sores on mouth and nose, dental decay
- Idiopathic etiology--> Sjogren syndrome antibodies
- Dry eyes are diagnosed by the SCHIRMER TEST FOR DRYNESS
- Treatment is directed towards relieving symptoms: increasing fluid intake, chewing sugarless gum, oral sprays, artificial tears, etc

Scleroderma

- Chronic, progressive disease characterized by sclerosis (hardening) of the skin, scarring of internal organs may occur as well
- Either diffuse (symmetric thickening of the skin of the extremities, face, and trunk) or limited (confined to the fingers and face)
- S/S: Hardening of skin and internal organs, skin becomes taut, firm, and edematous--> may feel tough and leathery, may itch, and pigmented patches may occur, swelling, stiffness, and pain in joints
- RAYNAUD'S IS OFTEN THE FIRST SYMPTOM
- Idiopathic, seems to feature fibroblasts
- No specific treatment

Isoimmune Neutropenia

passive transfer of anti-neutrophil antibodies from mom to fetus (IgG)

Immune Neutropenia

- Decrease in the number of circulating neutrophils--> caused by antineutrophil antibodies
- S/S: Malaise, fatigue, weakness, fever, and stomatitis, recurrent infections are often common
- Etiology: Accelerated turnover of neutrophils (increased production of neutrophils), even greater destruction mediated by antineutrophil antibodies, almost complete absence of neutrophils
- Treatment: normally none if not severe, severe: corticosteroids, immune globulin or granulocyte-colony stimulating factor, WBC transfusions)

Nonspecific Immunity

- Natural killer cells (secrete toxins that kill virus-infected cells)
- Macrophages (phagocytose bacteria, viruses, and other substances)
- Polymorphonuclear neutrophils (PMNs, or neutrophils that also phagocytose bacteria)

Systemic Necrotizing Vasculitis

- Primarily affect medium and large arteries
- S/S: Headaches, fever, weakness, fatigue, malaise, anorexia, and weight loss, muscle and joint pain, angina, dyspnea, hypertension, and visual disturbances
- Unclear how inflammation and necrosis develop, autoimmune responses play a role and are mediated by cellular and humoral immunity, illicit drug use (such as cocaine and amphetamines, hep B and C) have been associated with this disease
- Treatment: decreasing the inflammation of the arteries and improving the function of the affected organs, address underlying causative factors and systemic involvement--> corticosteroids and analgesics afford relief of the effects of inflammation, corticosteroids, analgesics, azathioprine and cyclophosphamide (immune suppressing drugs)

Small Vessel Vasculitis

- Inflammation of the walls of tiny vessels (capillaries, arterioles, and venules)
-S/S: Petechiae (nonblanching), purpura, erythema, ulcerations, and edema, found on skin of lower extremities, pain and burning accompany lesions
- Etiology: Exact cause is unknown, accompanies other immune disorders

Tensilon Test

The Tensilon test, also known as the edrophonium test, was a diagnostic test for myasthenia gravis (MG) involving an injection of the drug Tensilon (edrophonium). The test was discontinued in the U.S. in 2018 due to a high number of false positives and the development of more accurate diagnostic methods.
What it was:
The test involved injecting Tensilon intravenously, followed by observation of muscle strength.

Myasthenia Gravis

- Chronic, progressive neuromuscular disease that is caused by antibodies to the acetylcholine receptor at the nerve synapses
- S/S: Extreme muscle weakness (without atrophy) and progressive fatigue, onset may be gradual or sudden--> symptoms of muscle weakness appear most noticeably in the face (drooping eyelids, diplopia, difficulty talking, chewing, and swallowing), muscle weakness typically occurring late in the day or after strenuous exercise, eventual paralysis occurs
- Etiology: Autoimmune mechanism in which a faulty transmission of nerve impulses to and from the CNS occurs--> antibodies against ACh receptor are found, as well as hyperplasia of the thymus/thymoma
- TENSILON TEST
- Treatment: Anticholinesterase drugs (fatigue and muscle weakness)

Polymyositis

Disease of muscle that features inflammation of the muscle fibers, which are most commonly found in the trunk or torso --> chronic with periods of increased symptoms, called flare-ups, and remissions
- S/S: Muscle weakness, hard to walk up stairs, get out of chairs, weakness in lifting head, muscles ache to the touch, may be accompanied by skin inflammation (dermamyositis)--> rash appears on bony prominences
- Cause is idiopathic--> occurs when WBCs spontaneously invade and injure muscles

Systemic JRA (Still's Disease)

Polyarticular and organ involvement is present

Polyarticular JRA

-Involves more than 5 joints (affects girls 2:1)

Pauciarticular JRA

- Affects fewer than 5 joints (affects girls 6:1)

Juvenile Idiopathic (Rheumatoid) Arthritis

- MOST COMMON CHILDHOOD ARTHRITIS
- Involves large joints: attacks last for several weeks, and usually start to disappear by puberty

-S/S:
- Temperature fluctuation (normal/below in morning, 103 deg. in the evening)
- Poor appetite, resulting in weight loss
- Blotchy, salmon colored rash over the limbs and trunk of the body
- Anemia
-Swollen, stiff, and painful joints, most commonly involving the neck, elbows, knees, and ankles
- Can lead to crippling deformity, red eyes, swollen neck/axillary lymph glands, irritability, and acute pericarditis
- Specific cause is unknown

Rheumatoid Arthritis

- Inflammatory, systemic disease that affects the joints, one of the most severe forms of arthritis, commonly causing deformity and disability
- S/S: Inflammation and edema of synovial membranes surrounding the joint, inflammation spreads to other parts of the affected joint, and , if left untreated, has the capacity to destroy cartilage, deform joints, and destroy adjacent bones
- Can impact the entire body
- May begin without any obvious symptoms in the joints: low-grade fever, general malaise, stiffness, edema, tenderness, erythema, etc.
- Etiology: Idiopathic, thought to be autoimmune
- Treatment: NSAIDs, Corticosteroids, anti-inflammatory medication, DMARDs, Azulfidine, etc.

Schirmer Tear Test

Diagnostic test using a graded paper strip to measure tear production--> Sjogren's

Goodpasture Syndrome (anti-glomerular basement membrane antibody disease)

- Autoimmune kidney disease characterized by the presence of antibodies directed against an antigen in the GBM
-S/S: Acute glomerulonephritis, acute renal failure, proteinuria, anemia, hemoptysis, and hematuria
- Etiology: Obscure, antibodies cause complement-mediated tissue damage in the glomerular and alveolar basement membranes, resulting in glomerulonephritis and pulmonary hemorrhage
- Treatment: Plasmapheresis (to remove GBM antibody) combined with immunosuppressive agents (corticosteroids and cyclophosphamide)

Schilling Test

a diagnostic test for vitamin B12 deficiency
1. The patient is given a dose of radiolabeled vitamin B12 (B12 with a detectable radioactive marker) orally, along with an intramuscular injection of unlabeled B12.
2. 24-hour Urine Collection:
A 24-hour urine sample is collected.
3. Measuring Radioactivity:
The amount of radioactive B12 excreted in the urine is measured. A low level of radioactivity suggests that the body is not absorbing B12.

Coombs Test

a blood test to diagnose hemolytic anemias in a newborn

Warm antibody anemia (agglutinin)

Excess IgG antibodies that react with protein antigens on the RBC surface at room temperatures
- Most cases are idiopathic, may be stimulated by disease in certain cases
- Corticosteroids and cytotoxic drugs given to reduce antibody production

Cold antibody anemia (agglutinin)

Fixation of complement proteins on IgM that results at colder temperatures
- Regularly seen in conjunction with infectious mononucleosis or M. pneumonia
- Treated by avoidance of the cold

CMC Syndromes

- Chronic oral candidiasis
- CMC with endocrinopathy (hypoadrenalism, hypoparathyroidism, and ovarian failure)
- Chronic localized candidiasis (cutaneous lesions with hyperkeratosis)
- Chronic diffuse candidiasis (widespread infection of the nails, skin, and mucous membranes)
- Candidiasis with thymoma (accompanied by hypogammaglobulinemia, neutropenia, aplastic anemia, or myasthenia gravis)

Chronic Mucocutaneous Candidiasis (CMC)

- Group of disorders characterized by the persistent and recurrent fungal infections of the skin, nails, and mucous membranes---> caused by lack of immunity to Candida organisms
-S/S: Large circular lesions appear on the skin, mucous membranes, nails, or vagina, sores in mouth, recurrent thrush/diaper rash, respiratory tract infections
- T CELL DEFECIT SPECIFIC TO CANDIDA THAT MAKE THEM SUSCEPTIBLE TO INFECTION (AIRE/STAT1 modifications have also been considered as potential etiologies)
- Treatment: Transfer factor injections, chronic use of antifungals recommended

Tetany

condition affecting nerves causing muscle spasms as a result of low amounts of calcium in the blood caused by a deficiency of the parathyroid hormone

Hypersensitivity type I:

this is an immediate reaction.The release of IgE prompts the release of histamine. Antigens trigger this reaction by binding to mast cells. Some examples are food allergies, drug allergies, anaphylaxis, asthma, tinnitus, hives, etc. 

Hypersensitivity type II:

cytotoxic, this is when an antigen triggers the release of either IgG or IgM, and leads to complement-mediated destruction. Some examples are glenophritis, Good Pasture syndrome, and Rh incompatibility. 

Hypersensitivity type III:

free-floating antigen antibody (IgG and IgM) complexes deposit in tissues, causing damage and inflammation: This is seen in SLE, rheumatoid arthritis, and serum sickness. 

Hypersensitivity type IV:

T-cells are activated 12-72 hours after exposure to antigen, releasing cytokines that cause inflammation and tissue damage. Some examples are contact dermatitis, organ transplant rejection, and positive tuberculosis skin test. 

Active immunity

Person has had previous exposure to a disease or pathogen or when a person receives immunizations against a disease to stimulate the production of a specific antibody

B cells

Make up the humoral immunity
- Antibody-secreting plasma B cells (attach to antigens, marking them for elimination
- Memory B cells
- Coated in immunoglobulins
Actions of the Antigen-Antibody complex include the following:
1) inactivation of the pathogen or its toxin through direct binding
2) Stimulation of phagocytosis through complement fixation
- Activates the complement system

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Macrophages (part of cell mediated immunity)

Found within the lymph nodes, liver and lung tissues, they are phagocytes that destroy bacteria, cancer cells, and other foreign matter in the lymphatic stream by engulfing them

Types of T Cells

- Cytotoxic T cells (killer T cells) directly destroy virus infected cells, tumor cells, and allograft cells by inducing apoptosis or releasing certain toxins (CD8 glycoprotein)
- Helper T cells (CD4 cells) stimulate B cells to differentiate into plasma cells and to produce more antibodies, also activate CD8 cells and macrophages
- Suppressor T cells inhibit both B and T cell activities and moderate the immune response
- Memory T cells remain dormant until they are reactivated by the original antigen, allowing a rapid and more potent response years after the original exposure

- Main component of CELL MEDIATED IMMUNITY (formerly termed the reticuloendothelial system)

Nonspecific immunity

intact skin, mucous membranes, phagocytosis, natural killer cells, fever, interferons, inflammation, complement.

Physical and chemical barriers that are a part of nonspecific immunity

skin, sebum, tears, saliva, body pH, mucous membrane, microscopic cillia hairs.

white blood cells that are a part of nonspecific immunity

leukcytes → macrophages, neutrophils — also known as polymorphonuclear neutrophils (phagocytes), natural killer cells.

Natural killer cells

specialized white blood cells that act as the body’s first responders against viral infections and cancer (they are a part of the innate immune system)

Granulocytes (cells with visible granules)

neutrophils, basophils, eosinophils

Neutrophils

most abundant white blood cells and are responsible for phagocytosis

• they engulf and destroy bacteria

Eosinophils

combat parasitic worms and

• initiate the inflammatory response and allergic reactions

Basophils

least numerous white blood cells → they release histamine (promoting inflammaition) and heparin (preventing blood clotting)

Agranulcytes (lack visible granules)

lymphocytes and monocytes

Lymphocytes

• a part of the adaptive immune system

• b-cells (found within bone marrow) → produce antibodies -. humoral immunity

• t-cells (found within the thymus/produced) → target virus infected cells and tumors for cell-mediated immunity

Monocytes

the largest WBCs

→ they mature into macrophages upon entering tissue to engulf pathogens and cellular debris

macrophages

the immune' system’s “clean up crew”

they clean up the remaining debris after phagocytosis

complement

type of immunity where proteins are released when the IS signals that there is a pathogen within the body.

Result sin complement Cascade → the protein latch onto the pathogens/leave their marks for phagocytes to arrive

plasma proteins

mostly nonspecific, but they help the specific IS

macrophages and neutrophils are located …

M → below the epidermis and mucous membrane + in tissues

N → in blood + enters tissues at the site of interest

specific immunity

must be primed by initial exposure. Humoral immunity and cell-mediated immunity.

IgG (immunoglobulin G)

most abundant type of immunoglobulin

body’s primarily remembering for long-term defense

neutralizes viruses, bacteria, and toxins

IgM (immunoglobulin M)

first antibody produced in primary response

activates complement

attatched to B-cells

10 of total

IgA

protects mucosal surface from pathogens

saliva, mucous, tears, breast milk

5 of total

IgE

stimulates histamine release

ifnlammatory/allergen response chemicals

produced in tonsils and mucous membranes by plasma cells

0.5 of total

IgD

activates B-cells

attacthed to B cells

0.2 of total

where all blood cells origninate

T and B cells

Excess Pituitary Hormones Secretion:

 hyperthyroidism, can result in accelerated growth, often due to the failure of the emphyseal plate of the bone to close. 

Conn’s syndrome

excess secretion/release of aldosterone by adrenal glands → results in hypertension and low potassium levels and can lead to mjuscle wekness and metabolic acidosis

Gigantism (this occurs before puberty):

this a result of hyperpituitarism, more specifically, the hypersecretion of hGh/somatroponin. This is characterized by long limbs, delayed sxual development, and delayed mental development. Treatment for gigantism The cause is anterior pituitary adenomas or lesions. These can be detected by the use of MRIs and CTs, also a bone radiography. This can be treated with gonadal hormones and transphenoid surgery. 

 Acromegaly:

 this is a chronic metabolic condition in adults, caused by the hypersecretion of hGH. Impacts people 30-40. Characterized by overgrowth of hand, face and foot bones. Could be caused by a pituitary adenoma. MRI and CT scans can detect this Treatment includes hormone therapy and transphenoid surgery. 

Hypopituitarism:

deficiency of pituitary hormones produced by the anterior pituitary lobe. This can also result in a deficiency of the following hormones: thyrotropin (atrophy of thyroid gland) and corticotropin (resulting in salt imbalance). Panhypopituitarism (complete absence of pituitary hormones). Delayed growth and disturbances to metabolism. Tumors or lesions can cause this, and can also be detected by MRI and CT scans. HRT, thyroxine, cortisone, and hGH implementation. 

Diabetes Insipidus:

disturbance in the metabolism that results in dilute urine and extreme thirst. This is caused by a deficiency of vasopressin, otherwise known as ADH (anti-diuretic hormone). Symptoms include polyuria (increased frequency of urination) and polydipsia (extreme thirst). Diagnostic tests that are done include urine analysis and blood tests. Vasopressin tests can also indicate diabetes insipidus. Treatment for diabetes insipidus is typically vasopressin/ADH injections. 

Simple Goiter:

 this is the enlargement of the thyroid gland, caused by a hypersecretion of T3 and T4 hormones, as well as thyrotropin (TSH) by the pituitary gland. It is characterized by fatigue, a swollen neck, weight loss, tachycardia, heat intolerance, and difficulty swallowing. It is caused by an iodine deficiency. Iodine is needed for the synthesis of thyroid hormones, so when these hormones are hypersecreted and not synthesized, it results in hyperplasia of the thyroid gland. Treatment for this is taking iodine supplements. 

Hyperthyroidism (Grave’s disease:

 this is caused by the increased stimulation and secretion of thyroid hormones T3 and T4. This results in thyroid hypertrophying. This can also result in diffuse goiter. Symptoms include the following: heart palpitations, insomnia, dermopathy, moist skin, thyrotoxicosis. Diagnosis can be through blood test or serum analysis of T3 and T4 concentration. Treatment includes tapazole and beta blockers. A thyroidectomy is also an option. 

Hypothyroidism:

 the hyposecretion of the thyroid hormones. Can result in fatigue, cold intolerance, constipation, and dry skin. Detected through serum analysis. Familial tendency exists. Treatment includes hormone replacement therapy and specifically, T4 hormone inclusion/implementation. 

Cretinism

congenital hypothyroidism that develops in infancy or early childhood. It results in intellectual developmental disorder, delayed growth, stocky stature, protruding abdomen, short forehead, protruding tongue, and the sex organs fail to develop. Fault in the fetal development of the thyroid gland, a deficiency in the enzymes needed for T3 and T4 synthesis, and an iodine-deficient diet all contribute to cretinism. Diagnosed via blood test. Life-long thyroid hormone replacement/therapy. 

Myxedema

 results from the metabolic dysfunction of thyroid hormones/hypothyroidism. lOw metabolic rate associated with hypothyroidism. This can, when untreated, cause severe hypothyroidism, a myocardial infarction, and infection. Excess fatigue, hair loss, weakness, weight gain, constipation, and an enlarged tongue. Diagnostic test to assess thyroid hormone levels. Hormone replacement therapy for life, and possibly corticosteroids. 

Myxedema Coma

 medical emergency due to high mortality rate, and is subsequent/causative to myxedema. 

Thyroid Cancer

 Cancer of the thyroid gland/neoplasm. Thyroid lymphoma or metastases from other body parts. Enlarging neck mass, thyroid nodules, lump in thyroid region, hoarseness, and vocal cord paralysis. Occurs primarily between 30-60 years of age and women are nearly three times more likely to get it. Genetic basis/genetic mutations, heredity, iodine deficiency, and exposure to radiation. Radiologic and histologic assessment. Treatment is surgery, chemotherapy, and the subsequent administration of radioiodine. 

Hyperparathyroidism

hypersecretion of the parathyroid hormones by one or more of the four parathyroid glands (which are located on the thyroid). PTh is necessary for calcium absorption/processing, and so when there is a lot of PTH, there is also a lot of calcium (hypercalcemia), as the bones begin to demineralize. This results in excessive calcium in the blood, and thus weakened muscles, gastrointestinal pain, bone tenderness, arthritis, and muscle atrophy. PTH has a feedback loop to maintain calcium levels in the body. Etiology is an excessive amount of PTH in the body, typically due to an adenoma. Also, idiopathic hyperplasia of the gland. Secondary hyperplasia: caused by an increased secretion of PTH induced by low levels of calcium or vitamin D. Diagnosis through X-ray of bones to detect demineralization and serum analysis to assess PTH levels. Treatment includes the following: Drugs that increase the excretion of calcium by the kidneys or inhibit the reabsorption of calcium from the bone are used. A thyroid surgery is also used if the cause is an adenoma.  

Hypoparathyroidism:

 secretion of PTH is greatly reduced. This results in the following; hyperexcitable nervous system (tested with Chovstek test/sign), numbness, tingling, muscular spasms, and sustained muscular contractions, could also result in paralysis or death. Autoimmune genetic disorder, accidental removal of PT, and damage to PT/ischemia to PT. Electrocardiography (diagnosis method) shows increased Qt and ST intervals–PTH is reduced. 

Cushing Syndrome

chronic hypersecretion of the adrenal cortex, which often results in excessive circulating cortisol levels. Amenorrhea, excessive hair growth, thin skin, weight gain, hyperlipidemia, salt and water retention, osteoporosis, and atherosclerosis. Iatrogenic factors (medication that cause hypersecretion of adrenal cortex hormones), tumor of the adrenal cortex, and excessive secretion of corticotropin by the pituitary gland. CT and MRI used to detect adrenal tumors. Drug therapy that suppresses cortisol stimulants, and surgical removal of glands (if caused by a tumor). 

Addison Disease:

adrenal insufficiency/hypoadrenalism–Addison's disease is the partial or complete failure of adrenocortical function. Symptoms include fatigue, weight loss, hyperkalemia, anorexia, confusion, gastrointestinal disturbances. Result from an autoimmune process, hemorrhage, infection, neoplasm, and surgical resection of the gland. Radiographs, blood and urine analysis are used to diagnose. Treatment includes the following: glucocorticoid and mineralocorticoid. 

Diabetic Mellitus

 it is a chronic disorder of carbohydrate, fat, and protein metabolism caused by inadequate production of insulin by the pancreas or faulty use of insulin by the cells. Hyperglycemia deprives cells of fuel, then the body metabolizes fat and protein instead (ketone bodies accumulate in blood, subsequently). Polyuria, polyphagia, polydipsia, weight loss, and fatigue. Fruity breath. 

Can be familial or acquired, type 1 (earlier in life and autoimmune where beta pancreatic cells are destroyed), type 2 (overweight adults).  Tumor, trauma to pituitary gland, and some genetic disorders make individuals less receptive to insulin. Family history and blood -insulin levels are assessed for diagnosis. This can be treated with insulin pump therapy (type 1), and restrictive calorie intake/exercise (type 2). The following are some other treatments: acrabose, metformin (helps reduce glucose levels by preventing the liver from producing hepatic glucose), hypoglycemic drugs, and rosiglitazone (makes cells more receptive to insulin). 

Type 1 diabetes mellitus (juvenile onset diabetes/insulin dependent diabetes mellitus):

• early and abrupt onset, usually before 30, and is when there is little to no insulin being secreted by the patient, which can be difficult to control. 

Type 2 diabetes mellitus (adult onset diabetes/non-insulin-dependent diabetes mellitus):

• this is the most common form and has a gradual onset in older adults, over the age of 30. In type 2 diabetes mellitus, some pancreatic function remains, allowing this type to be somewhat managed through diet and exercise, and also oral medication. 

Gestational Diabetes:

 gestational diabetes mellitus is detected between 24-28 weeks of pregnancy and is a condition of damaged ability to process carbohydrates that has its onset during pregnancy. Asymptomatic or polyuria, polydipsia, and polyphagia, Routine blood screening is needed. Caused by the destruction of insulin by the placenta. Serum test. Oral hypoglycemic agents and insulin as treatment. 

Hypoglycemia

 low blood sugar levels/glucose levels in the blood. Include sweating, hunger, dizziness, and headaches. Drug induced hypoglycemia: insulin overdose. Non-drug induced hypoglycemia is the hypersecretion of insulin. Diagnosed through a glucometer. Glucose less than 50mg/dL is the basis for diagnosis. Treatment: complex carbohydrate and protein snack is given to keep glucose levels within the normal limits. 

Precocious Puberty in Girls

 early onset of puberty in girls before the age of 8. Menstruation, breast enlargement, public hair, and increased growth. Usually idiopathic, but could also be caused by encephalopathy or estrogen-containing drugs. Adrenal neoplasms are also a possible cause. Blood serum levels and urinalysis are both used to test for precocious puberty in girls. Hormone therapy to suppress the secretion of gonadotropins. 

Precocious Puberty in Boys

  the onset of puberty in boys before age 9. Pubic hair, developed sexual characteristics, height, voice, gonads, and spermatogenesis. Idiopathic precocity may be transmitted genetically. Sec steroids, excessive secretion of gonadotropin, and neoplasms can cause precocious puberty in boys. MRi is used to diagnose and also radiographic studies. Hormones that inhibit the release of puberty hormones/gonadotropin gonadotropin-releasing hormone agonists. Surgical removal of tumor, if that is the cause. 

Diabetes mellitus

Chronic inability to produce or respond to insulin; categorized as Type 1 (autoimmune, no insulin) or Type 2 (insulin resistance).