Reproductive & Genetic Diseases Flashcards by Mia Hurry

Patho: Benign growth of the stroma and gland. Stromal cells never reach G0 (cell death). Prostate will grow until obstructing urethra. Develop inner part of prostate. Stimulation of estrogen and local growth hormone. Accumulation of DHT.

Benign Prostatic Hyperplasia

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Homeo: clinical manifestations from urinary obstruction, urethra obstructed, UTI due to bacterial build-up of incomplete bladder emptying, calculi formation (bladder stones, renal calculi), renal failure (byhydronephrosis, pyelonephritis), irreversible bladder damage for some

Benign Prostatic Hyperplasia

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Outcome: TURP = low risk, 80-90% success rate, void sufficiently with no palpable bladder distention, demonstrates postvoid residuals <50ml with absence of dribbling and overflow

Benign Prostatic Hyperplasia

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Body S.: reproductive and Genito-urinary system

Benign Prostatic Hyperplasia

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S and S:
Obstructive; decreased for of urinary stream, difficulty initiating voiding, intermittent void stream, dribbling at end of urination
Irritative; urinary frequency/urgency, dysuria, bladder pain, nocturia, incontinence

Benign Prostatic Hyperplasia

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Diagnostic:

Physical exam
Digital rectal examination (DRE)
Prostate specific antigen (PSA) blood test
Serum creatinine levels
Ultrasonography
Biopsy during ultrasonography
Uroflowmetry
Cysto-urethroscopy to prostatectomy

Benign Prostatic Hyperplasia

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Treatment:
Conservative treatment; active surveillance (AUE <7)
-	Dietary changes (less caffeine/spicy/acid foods)
-	Restrict fluids in evening
-	Avoid decongestant and anticholinergics
-	Time voiding schedule 
Drug:
-	5a reductase inhibitors
-	A-adrenergic receptor blockages
-	Erectogenic drugs
Minimally invasive
-	Laser prostatectomy or stenting
Invasive
-	TURP
-	Prostatectomy

Benign Prostatic Hyperplasia

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Patho: HVP leading cause of X cancer is an STI that alters DNA of cervical cells = uncontrolled division = cancerous tumor on cervical hip = metastases to uterus/lymph nodes, etc. (squamous cells carcinoma begging in epithelial squamous cell on cervical tip)

Cervical Cancer

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Prevention: GPV vaccine, safe sex, regular pap tests

Cervical Cancer

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Homeo: Cells are not completing the usual process of apoptosis, this causes the formation of a tumor/wart which can spread within the cervix and vagina.

Cervical Cancer

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Outcomes: women younger than 50/ African over Caucasian (increased risk), once infected with HPV can take 15-20 yrs for X cancer to develop (except weak immune system). Survival rate decreases as cancer spreads.

Cervical Cancer

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Organs: epithelial tissue (precancerous), reproductive (cervix, vagina), nearby lymph nodes, bladder/rectum/liver (metasitzed = urinary and digestive), respiratory (lungs), skeletal (bones)

Cervical Cancer

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S&S:
First symptoms:
- abnormal vaginal bleeding between periods/after menopause/ after sexual intercourse/after pelvic exam
- abnormal/increased vaginal discharge
- foul smalling vaginal discharge
- unusually long/heavy periods
- aching/stabbing pain during sexual intercourse
- pain in the pelvic are or lower back can radiate to legs w/swelling
Metastasized:
- difficulty urinating, difficulty having BM
- loss of appetites, weight loss, fatigue
- SOB, coughing up blood
- Jaundice chest or bone pain

Cervical Cancer

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Diagnostic Tests

Pap smear
HPV test
Colposcopy exam and biopsy
Endocervical curettage

Cervical Cancer

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Treatment:

Cone biopsy
LEEP
Laser, chemo, radiation, cyro, therapies
Hysterectomy

Cervical Cancer

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Patho: inability to achieve/maintain erection during sexual intercourse, includes inability to achieve erection, complete erection and ejaculate.
Causes to neurogenic, psychogenic: Can’t initiate nerve impulses or when there is an interruption of the neural transmission. Neurogenic ED can be caused from stroke, Alzheimer’s disease, depression and anxiety to perform.
Cause vasculogenics; from blood vessels being damaged and may lead to inadequate blood flow to make and keep a erection. Can also be due to impaired veno-occlusion because of inadequate blood supply. Diseases like atherosclerosis, diabetes mellitus and Peyronie’s disease cause it.
And endocrinologic problem; inadequate hormonal activity like low testosterone and low libido. Endocrine diseases like pituitary tumors, hyperthyroidism, hypothyroidism causes.
Other causes; Cardiovascular disease, hematological conditions such as Hodgkin lymphoma or leukemia, trauma, alcohol, smoking and drug abuse, medications like antihypertensive and antidepressants.

Erectile Dysfunction

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Risk Factors: after 40s, metabolic syndrome, peronei’s disease, chronic sleep disorders, prostate problems, high levels of blood cholesterol, vascular diseases

Erectile Dysfunction

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S and S: Trouble getting erection, trouble keeping erection, reduced sexual drive

Erectile Dysfunction

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Diagnosis: physical exam (penis and testes nerve sensation), blood testes (other health conditions), ultrasound (see blood flow), psychological exam (psychological causes of X)

Erectile Dysfunction

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Treatments:

Meds; Viagra or Stendra (sex stimulation needed for erection)
testosterone replacement
penis pump (pulls blood to penis, ring around penis to maintain pressure)
penial implant (inflatable rods are placed in penis, person decides when and for how long erection occurs.

Erectile Dysfunction

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Pahto: reduced function of cryptorchid testes due to temp. Transient hormone deficiencies may lead to a lack of testicular descent and impair the development of spermatogenic tissue.

Cryptorchidism

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Homeo: cause unknow, often seen in premature babies when testes don’t pass down into the scrotal sac until 7mo of baby growth OR baby’s hormones can’t stimulate testes= testes drop in scrotum

Cryptorchidism

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Body.S: reproductive system

Cryptorchidism

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S &S: Not seeing or feeling a testicle in scrotum. People do not usually experience or show manifestations.

Cryptorchidism

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Diagnosis: Laparoscopy

Cryptorchidism

Treatment: - Surgery= orchiopexy (stich testicles into place) - Hormone treatment (injection of HCG causes child’s testicles to move to scrotum) - Saline testicular protheses for the scrotum (is testes damaged or not survive surgery = future hormone treatments will be necessary for puberty and physical maturity)

Cryptorchidism

Pahto: recessive inherited blood disorder, body less hemoglobin than normal = less O2 carried by RBC.

Thalassemia

Risk Factors: African, Middle Eastern, Chinese, Southeast Asian, and Mediterranean

Thalassemia

Types: Alpha; - (one mutated gene), no symptoms, carriers. - (two mutated genes), symptoms mild, alpha X trait - (three mutated genes), symptoms moderate to severe Beta; - (one mutated gene), mild symptoms, X minor or beta X - (two mutated gene), symptoms moderate to severe, X major or Cooley anemia

Thalassemia

Homeo: iron overload, infection, bone deformities, enlarged spleen, slowed growth rates, heart problems (CHF, abnormal heart rhythms)

Thalassemia

S&S: fatigue, weakness, pale or jaundice, facial bone deformities, slow growth, abdominal swelling, dark urine

Thalassemia

Diagnostic: - Blood tests (CBC, hemoglobin electrophoresis) - Chorionic Villus Sampling (at 11 wk, remove piece of placenta) - Amniocentesis (16 wk, remove sample fluid around fetus)

Thalassemia

Treatment: - (mild might not need treatment) - (severe = regular blood transfusions) - iron chelation therapy (too much iron in blood due to transfusions) - folic acid supplements - blood and marrow stem cell transplant (cure, risky)

Thalassemia

Pahto: NF1: mutation on chromosome 17 with protein neurofibromin NF2: mutation on chromosome 22 with protein merlin Schwannomatosis: mutations with genes SMARCB1 and LZTR1 or inherited

Neurofibromatosis

Outcome: if no complication; life expectancy normal. Parent with it has 50% chance of passing it to child (dominate autosomal)

Neurofibromatosis

Homeo: genetic disorder= benign tumors to form on nerve tissue; anywhere in the body (brain, spinal cord, peripheral nerves)

Neurofibromatosis

Body.S: Nervous, integumentary, ocular, muscular and skeletal system. Skin, ears, eyes, brain, spinal cord.

Neurofibromatosis

S&S: - NF1: café au lait spots, pea sized bumps on/under skin, freckling armpit/groin, nodules on iris, optic glioma, bone deformities, large head, short, high BP - NF2: vestibular schwannomas, gradual hearing loss, tinnitus, poor balance, headaches, visual impairment - Shwannomatosis: tumors on cranial/spinal/peripheral nerves, chronic pain, numb/weak, loss of muscle

Neurofibromatosis

Diagnostic: - MRI, X ray, CT - Woods lamps (check café au lait spots) - Eye, audiometry, electronystagmography, brainstem auditory evoked response exam - Genetic tests (mutations in neurofibromin, merlin, SMARCB1 and LZTR1 genes) - Tumor biopsy

Neurofibromatosis

Treatments (no cure): - Monitor skin, BP, growth and development - Surgery to remove tumors - Stereotactic radiosurgery - Auditory brainstem implants, cochlear implants - Pain medication

Neurofibromatosis

Pahto: caused by mutation in HEXA gene (regulates production of enzyme hexosaminidase A which breaks down fatty substances GM2-ganlioside in cells; failure to breakdown GM2-ganglisode = deterioration of the CNS).Recessive autosomal.

Tay-Sachs Disease

Homeo: Mutation of HEXA gene = deficiency enzyme hexosaminidase A which breaks down GM2-ganlioside (fatty substance) in cells. Excess of GM2-ganlioside in neuron = deteoritaion of CNS.

Tay-Sachs Disease

Body.S: CNS, brain, muscular system, senses (eyes, ear)

Tay-Sachs Disease

S&S: loss of motor skills (turning, crawling, sitting up), baby has exaggerated reactions to loud noise, seizures, vision/hearing loss, cherry red spots in eyes, muscle weakness, movement problems. Infantile: (develop between 3-6 mo., by 3-5 years age = life threatening complications (resp failure) Juvenile: the onset of this form between 2-10 y.o, first signs is clumsiness and problems with coordination, life threatening = complications around 15 years. Late-Onset: initial symptoms associated late disease; clumsiness, mood alteration and progressive muscle weakness and wasting. May experience mental deterioration, memory problems, behavioral changes including shorter attentions spans and personality changes.

Tay-Sachs Disease

Diagnostic: - Activity of HEXA in blood test, leucocytes, tears, any body tissue - Hereditary family disorder (recessive), genetic testing - S&S and careful eye exam

Tay-Sachs Disease

Treatments: - (no specific; geared towards symptoms of each individual) - e.g. pediatrician, neurologists, speech pathologist, audiologists, eye specialists - nutritional support, feeding tube - anticonvulsants (treat seizures)

Tay-Sachs Disease

Pahto: inherited disorder (autosomal dominant) caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength (can live normal lifespan w/ modern treatment)

Marfan Syndrome

Homeostasis: extracellular matrix blood pressure (enlarged length of widening of aorta)

Marfan Syndrome

Body.S: heart and BV, eyes, skeleton and teething

Marfan Syndrome

S&S: - High myopia, long arms/legs/fingers - breastbone protrudes outward or dips inward - heart murmurs, curved spine, flat feet - high arched palate with crowded teeth

Marfan Syndrome

Diagnostic: - echocardiogram (cardiac ultrasound) - electrocardiogram (EKG or ECG) - MRI, CT - prenatal testing - DNA test to locate and conform genetic defect

Marfan Syndrome

Treatments (no cure): - aortic repair , glasses/eye surgery, scoliosis treatment - breastbone correction, beta blockers medication

Marfan Syndrome

Patho: - Inherited disorder (recessive autosomal) cause damaged to lungs, digestive system, etc. X affects cells that produce mucus, sweat, and digestive juices; the secretions become sticky and thick (X makes a gene defective). Secretions plug tubes/passageways in lungs/pancreas. - Defective gene is CFTR; it affects a protein that regulates salt that goes in/out of cells. The type of mutation in the gene r/t severity of disease.

Cystic Fibrosis

Body.S: lungs, pancreas, liver, intestines, ovaries, testes

Cystic Fibrosis

S&S: - Resp: thick sputum production, wheezing, repeated lung infections, inflamed nasal passage, stuffy nose, fatigue w/ exercise, multiple sinusitis. - Digestive: weight loss/failure to gain weight despite increased appetite, disturbed growth, constipation, intestinal blockage, stool bulky w/ foul smell - Other: infertility, joint pain

Cystic Fibrosis

Diagnostic: - newborn screening, ultrasound - sweat test, blood test, stool test, CT scan - chest X-ray, lung function test, sputum cultures

Cystic Fibrosis

Treatment (no cure): Supportive symptoms to ease symptoms, help slow progression and prevent/treat complications. - medication that target gene mutation - antibiotics (treat/prevent lung infections) - anti-inflammatory medications - airway clearance techniques - O2 therapy - surgery - lung transplant - regular exercise

Cystic Fibrosis

Pahto: inherited X linked recessive (sex linked) due to mutation of HPRT1 gene = overproduction of uric acid

Lesch-Nyhan Syndrome

Homeo: HGprt deficnecy is an inborn error of purine metabolism due to overproduction of uric acid. HGprt deficnecy = continuum spectrum of neurological manifestations depend on the degree of defiency. Lack of functional purine salvage pathways = purine limitation in both cells + severe loss of dopamine content

Lesch-Nyhan Syndrome

Body.S: muscular, nervous, integumentary, endocrine systems + kidneys, skin, brain

Lesch-Nyhan Syndrome

Outcomes: males more common, female carriers have 25% chance with each pregnancy of having a female carrier, a non-carriers female and an affected son and an unaffected son. Males will pass abnormal gene to all daughters and will not pass on the gene to any males. Affected people do not survive past 1st or 2nd decade (renal failure)

Lesch-Nyhan Syndrome

S&S: - orange deposits in diapers, urate stones in kidneys, hematuria, pain and swelling in joints (gout) - cartilage deposits (tophi in ears), dystonia, chorea, hypotonia/hypertonia, spasticity - dysarthria, dysphagia, intellectual disability, self-mutilation, anemia, opisthotonos - hip dislocation, fractures, scoliosis, contractures, behaviroal abnormalities

Lesch-Nyhan Syndrome

Diagnostic: - blood testing (elevated level of uric acid) - absence of HGPRT in tissues - genetic testing (for mutations of HPRT1 gene) - enzyme analysis - clinical signs and symptoms

Lesch-Nyhan Syndrome

Treatments: - allopurinol, benzodiazepines/diazepam, baclofen - extracorporeal shock wave lithotripsy - wheel chairs/supportive devices, restraints, mouth guards

Lesch-Nyhan Syndrome

HPRT1 gene

Lesch-Nyhan Syndrome

SMARBC1 gene

Neurofibromatosis

LZTR1 gene

Neurofibromatosis

chromosome 17 or chromosome 22

Neurofibromatosis

CFRT gene

Cystic Fibrosis

HEXA gene

Tay-Sachs Disease

Excess GM2-gangloside

Tay-Sachs Disease

Autosomal Dominant

Marfan Syndrome | Neurofibromatosis

Autosomal Recessive

Cystic Fibrosis Tay Sachs Disease Thalessemia

Sex Linked

Lesch-Nyhan Syndrome

Reproductive & Genetic Diseases Flashcards

(74 cards)