robbypowell's version from 2015-10-13 21:18

Genetic & Developmental cont.

Genetic predictions

Question Answer
Only one parent has to have the condition for it to have a chance to manifest.Autosomal Dominant
Either male or female child has a 50% chance to receive the condition (if one parent has it)Autosomal Dominant
Both parents must be carriers for condition to manifest in their childrenAutosomal Recessive
Either male or female child has a 50% chance of becoming a carrier if one parent is a carrierAutosomal Recessive
If both parents are carriers of an Autosomal Recessive disease, what are the chance that it will manifest in a child?25% (1/4)
If both parents are carriers of an Autosomal Recessive disease, what are the chances that their child will be a carrier?50%
If both parents are carriers of an Autosomal Recessive disease, what are the chances that their child will not be a carrier or have the disease?25% (1/4)
Only one disease Producing gene on an X-chromosome is required to produce an affected childSex-linked Dominant
Two disease-producing genes are required to produce an affected daughter, but only one is required to produce an affected sonSex-linked Recessive
With a carrier mother, 50% of the daughters will be carriers and the other 50% will be normal... while 50% of the sons will be affected and the other 50% will be normalSex-linked Recessive
With an affected mother, 100% of the sons will be affected and 100% of the daughters will be carriersSex-linked Recessive
with an Affected father & normal mother, 100% of daughters will be carriers and 100% of sons will be normalSex-linked Recessive


Question Answer
A 22-year-old man who had a myocardial infarction 1 year ago now has chest pain when exercising. His underlying disease is due to an absence of LDL receptors on liver cells, inherited as autosomal dominant condition. Which of the following laboratory findings is most likely to be present in this patient?Hypercholesterolemia

quiz genetic

Question Answer
What is the most common Autosomal chromosomal disorder?Down’s syndrome
what is an Example of Involution failureThyroglossal Duct/tract
what is a barr body?deactivated additional X chromosome
why is there no carrier in abnormal dominant inheritance?transmitted by dominant producing gene
what is most common cause of developmental anomalies & genetic diseaseUnknown cause for 70%

quiz neoplasm

Question Answer
what is an example of a precancerous state?Cervical Epithelial Dysplasia
what represents malignancy unequivocally?presence of local or distant metastasis
what is a benign ?Adenoma
definition: cell invasion of tissue followed by intravasation, extravasation, & ColonizationMetastasis
what is a true neoplasm?mass of an ab cell prolif exhibiting autonomous unabated growth


Question Answer
The ____ system is a highly integrated & widely distributed group of organs and cells whose purpose is to maintain a state of metabolic equilibriumENDOCRINE system
____ glands (endocrine/exocrine) are ductlessEndocrine
____ glands (endocrine/exocrine) secrete hormones, peptides, and amine into bloodEndocrine
____ glands (endocrine/exocrine) secrete enzymes into cavities or body surfacesExocrine
____ glands (endocrine/exocrine) have ductsExocrine
____ glands (endocrine/exocrine) are inhibited by the activity of their target (feedback loop)Endocrine
Rathke's pouch becomes the _____ pituitaryAnterior
The Diencephalon develops into the _____ pituitaryPosterior
The pituitary gland is housed within the ___ ___Sella Turcica
The Adenohypophysis is the same as the ____ pituitaryAnterior
The Neurohypophysis is the same as the ____ pituitaryPosterior
What hormones are released from the Neurohypophysis?ADH (Vasopressin) & Oxytocin
What are the "hypothalamic factors" from Hypothalamus?SGGTCP; CRH (corticotropin releasing h); PIF (prolactin inhibitory factor); TRH (thyrotropin-releasing h); GHRH (growth hormone-stimulating h); GIH (growth h Inhibitory hormone aka SOMATOSTATIN) & GnRH (gonadotropin-releasing h)
SGGTCP (mnemonic for what)(hypothalamic factors) Somatostatin, Gonadotripin RH, Growth h RH, Thyrotropin RH, Corticotropin RH, Prolactin Inhibitory hormone
FLAT PeG (mnemonic for what)Anterior Pituitary hormones (FSH, LH, ACTH, TSH, Prolactin, Growth hormone)
What are the hormones released from the Posterior Pituitary?ADH (Vasopressin) & Oxytocin
what levels of hormone would you expect as a result of ablative therapy, ischemia or space occupying lesion (SOL) affecting a gland?UNDERproduction (Impaired synthesis)
Bitemporal Hemianopia and Pan-HYPO-pituitarism suggests what type of pituitary disturbance?Local Mass (Craniopharyngioma)
Craniopharyngiomatumor from pituitary gland embryonic tissue (Rathke's pouch)
bilateral loss of outer ((periphera)l) visual fieldsBitemporal Hemianopia
Craniopharyngioma tumor is treated through surgery with what approach?Trans-nasal (via the nose)
decreased functioning of the pituitary gland caused by ischemic necrosis due to blood loss and hypovolemic shock during and after childbirthSheehan's Syndrome
what type of mass associated with high levels of serum prolactin & pituitary mass on CT, amenorrhea, galactorrhea, loss of libido & infertilityPROLACTIN-OMA
Overproduction of growth hormones before closure of epiphyseal plates leads to ____Gigantism
Overproduction of growth hormones after closure of epiphyseal plates leads to ____Acromegaly
___ leads to generalized increase of body size with disproportionately long arms and legs & cardiovascular problems leading to heart failureGigantism
___ leads to coarse skin, enlargement of visceral organs, larger bones of hands, feet, face esp. jaw, (mandibular prognathism)Acromegaly
Gigantism and Acromegaly are both caused by ____ of the pituitary they differ in the time of onsetAdenoma
Acromegaly differs from gigantism in that it causes ___ ___ in addition to Cardiovascular strainDiabetes Mellitus
3 hormones released by Thyroid GlandT3, T4, & Calcitonin
____ is a general term for enlargement of the thyroidGoiter
foods or drugs that suppress synthesis of thyroid hormones are called ____Goitrogens
a destructive autoimmune disease to thyroid gland: ____ ____Hashimoto's Thyroiditis
People living in an areas where diet is deficient in Iodine are prone to have problems with what gland? and develop what sign/condition?Thyroid; Goiter
Primary Hyperthyroidism has ____ (increased/decreased) T3 & T4 levels and ___ (increased/decreased) TSH levelsIncreased T3 & T4; Decreased
Secondary Hyperthyroidism has ____ (increased/decreased) T3 & T4 levels and ___ (increased/decreased) TSH levelsIncreased T3 & T4; Increased TSH
____ is a set of symptoms: hyperfunctioning & diffuse enlargement of thyroidThyrotoxicosis
Thyrotoxicosishyperfunctioning & diffuse enlargement of thyroid
exophthalmia associated with what endocrine disorder?HYPER-thyroidism
Graves disease is a disease of what receptor?TSH receptor on Thyroid
Genotypes associated with graves disease: HLA-___ & HLA-___hla-B8 & hla-DR3
Thyroid stimulating Immunoglobulins & Diffuse Radioactive Iodine uptake are diagnostic features of ___ ___Graves disease
Which gender is Graves disease more common in?Female
Abrupt onset of severe hyperthyroidismThyroid Storm
Clinical features of ____ ___: delirium, tachycardia, restlessness, nausea, vomiting, abdominal pain, fever, profuse sweatingThyroid storm
Hypothyroidism during infancy leads to ____Cretinism
The biggest similarity between Hashimoto's thyroiditis & Graves disease is that they are both ___ disordersAutoimmune
The biggest difference between Hashimoto's Thyroiditis & Graves disease is that Hashimoto's produces ____-thyroidism and Graves produces ___-thyroidismHypo-; Hyper-
___: swelling of the skin and underlying tissues giving a waxy consistency, typical of patients with underactive thyroid glands.Myxedema
Coarse skin associated with Myxedema is rich in _____Muco-Polysaccharides
In both primary and secondary Hypothyroidism, what levels are decreased?T3 & T4
In secondary Hypothyroidism levels of this hormone are decreased, while in primary they are increasedTSH
Most common cause of adult hypothyroidism in the USHashimoto's Thyroiditis (autoimmune)
autoimmune disease characterized by T-cell lymphocytic infiltration & destruction of the Thyroid parenchymaHashimoto's Thyroiditis
Pretribial Edema is associated with Hypothyroidism (hashimoto) Hyperthyroidism (graves) or both?BOTH
High T3 & T4, Low TSH: ___ ___-thyroidismPrimary Hyperthyroidism
High T3 & T4, High TSH: ___ ___-thyroidismSecondary Hyperthyroidism
Low T3 & T4, Low TSH: ___ ___-thyroidismSecondary Hypothyroidism
Low T3 & T4, High TSH: ___ ___-thyroidismPrimary Hypothyroidism
Hormones of the Renal Cortex (mnemonic)Go Find Rex, Make Good Sex (GFRMGS); Glomerulus--> Mineralocorticoids (Aldosterone), Fasciculata--> Glucocorticoids (Cortisol), Reticulata--> Sex hormones (androgens)
____ Syndrome is associated with Hyper-AdrenalismCushing's Syndrome
____ Disease & ____-____ Syndrome are associated with Hypo-AdrenalismAddison's disease; Waterhouse-Friedrichsen syndrome
CHRONIC adrenocortical insufficiency is ____ diseaseAddison's Disease
ACUTE adrenocortical insufficiency is ___-___ syndromeWaterhouse-Friedrichsen syndrome
Adrenocortical Hyperplasia leads to ___-adrenalism; ____ SyndromeHYPER-adrenalism, Cushing's syndrome
Adrenocortical Atrophy... ___-adrenalism; ____ DiseaseHYPO-adrenalism, Addison's disease
in 60% of Cushing's syndrome, the Etiology is over production of pituitary hormone, ___, caused by ____ACTH; Adenoma
Iatrogenic Cushing's syndrome is secondary, caused by exogenous ____ hormonesGlucocorticoid
Secondary Cushing's syndrome has ____ (depressed/elevated) Cortisol & ___ (depressed/elevated) ACTHElevated Cortisol; Elevated ACTH (cause)
Primary Cushing's syndrome has ____ (depressed/elevated) Cortisol & ___ (depressed/elevated) ACTHElevated Cortisol (primary source); Depressed ACTH
Lung cancer can cause what endocrine disorder? this is caused by the tumor's release of what hormone?Cushing's Syndrome; Excess ACTH
Buffalo hump of the neck, Hirsutism, Purple Striae, & Moon face are signs of what syndrome?Cushing's syndrome
Autoimmune attack of the adrenal cortex, Tuberculosis, or Metastatic cancer of the adrenal cortex are all possible causes of what "disease"Addison's disease (Chronic Adrenocortical Insufficiency)
Tiredness & general feeling of lack of energy, Weight loss, GI disturbances, Hypoglycemia, depression, Hyperpigmentation (Bronzing) of skin & mucosa... what endocrine condition?Addison's disease (Chronic Adrenocortical Insufficiency)
Adrenal Crisis, associated with Addison's disease (hypotension, nausea, collapse) are treated with 100mg of what Rx?Hydrocortisone
Uncommon syndrome caused by widespread sepsis causing hypotensive shock and bilateral adrenal hemorrhage and PURPURA of the skinWaterhouse-Friedrichsen syndrome
Waterhouse-Friedrichsen syndrome is caused by overwhelming Sepsis... the most common microbe involved is ____ ___Neisseria Meningitidis
Catecholamines-producing (epinephrine & nor-epinephrine) tumor arising from medullary paragangilonic cellsPheochromocytoma
Heart palpitation, headache, and breathlessness are associated with what tumor?Pheochromocytoma (adrenal medulla)


Question Answer
13yo w/ breast discharge (not pregnant) and frequent headaches... condition is ____; mass found on CT is ____Hyperprolactinemia; Prolactinoma
9yo female w/ with generalized edema and failure of permanent teeth eruptionHYPO-thyroidism
In this type of common endocrine disorder, dental age is less than chronological ageHypothyroidism
10yo girl who grew normally until the age of seven, bone age of 8... thick skin, enlarged thyroidHypothyroidism (Juvenile)
female after pregnancy suffering from pan-hypopituitarismSheehan's Syndrome

hormones match function

Question Answer
Causes the thyroid gland to grow and release thyroid hormones (called T4 and T3)Thyroid Stimulating Hormone (TSH) (anterior pit)
Causes adrenal gland to release several hormones. The major one is cortisolAdrenocorticotropic Hormone (ACTH) (ant pit)
The main hormone for general body growthGrowth Hormones (GH) (ant pit)
Stimulates ovulation in women and the production of sperms in men.Follicle Stimulating Hormone (FSH) (ant pit)
Stimulates ovulation in women and testosterone production in men.Luteinizing Hormone (LH) (ant pit)
Responsible for breast milk production in females.Prolactin (PRL) (ant pit)
Controls thirst and the amount of urine produced by the kidneys.Antidiuretic Hormone (ADH) (Vasopressin) (post pit)
Stimulates uterine contractions in women & acts on mammary glands to release milkOxytocin (post pit)
normal physical & brain growth & maturation, helps oxygen consumption, Upregulates carbohydrates and lipid metabolism - protein synthesisT3 & T4 (Thyroid)
Inhibit Osteoclastic resorptionCalcitonin (Thyroid)
deal with stress, maintain BP, blood vol., blood sugar, appetite & a feeling of well beingCortisol (Glucocorticoids) (renal cortex)
helps maintain blood vol.& regulates blood potassium & sodiumAldosterone (Mineralocorticoid) (renal cortex)
increases heart rate & force of contraction, relaxation of bronchiolar smooth muscle & glycogenolysisEpinephrine (Catecholamines) (renal MEDULLA)

consequences of diminished hormones

Question Answer
GHfailure of growth → short stature-- Dwarfism
LHfailure of sexual maturity and function (amenorrhea, infertility)
FSHfailure of sexual maturity and function (amenorrhea, infertility)
ACTHAddison’ s disease
ADHDiabetes insipidus (excessive thirst & excessive urination)


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