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UWorld Reviews > Clin/Path > Flashcards

Clin/Path Flashcards

1
Q

Congenital hypothyroidism (cretinism) clinical presentation

A

Usually asymptomatic at birth (rarely causes delayed meconium passage)
After maternal thyroxine wanes (weeks to months):
Lethargy, poor feeding
Enlarged/protruding anterior fontanelle
Protruding tongue, puffy face, umbilical hernia (all of these are due to accumulation of matrix substances cutaneously and internally)
Constipation
Prolonged jaundice
Dry skin

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2
Q

Congenital hypothyroidism (cretinism) diagnosis

A

↑ TSH & ↓ free thyroxine levels

Newborn screening

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3
Q

Congenital hypothyroidism (cretinism) treatment

what to avoid with it

A

Levothyroxine by 2 weeks old can normalize cognitive and physical development

Avoid co-administration with soy products, iron, or calcium.

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4
Q

Congenital hypothyroidism (cretinism) prognosis if treated

A

No deficits if treatment started in neonatal period

So make sure to screen for this

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5
Q

Congenital hypothyroidism (cretinism) prognosis if untreated

A

neurocognitive dysfunction (eg, ↓ intelligence quotient)

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6
Q

Congenital hypothyroidism (cretinism) etiology

A

thyroid dysgenesis (agenesis, hypoplasia, or ectopy), and iodine deficiency is a common cause in areas endemic for iodine deficiency (eg, Europe).

TSH resistance due to a mutation in the TSH receptor gene

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7
Q

T4 functions

A

essential for normal brain development and myelination during early life

stimulation of protein synthesis as well as carbohydrate and lipid catabolism in many cells

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8
Q

Down syndrome

clinical

A 
Hypotonia
hypothyroidism
upslanting palpebral fissures
bilateral epicanthal folds
single palmar crease
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9
Q

Galactosemia etiology

A

galactose-1-phosphate uridyltransferase deficiency

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10
Q

Galactosemia clinical

A

jaundice, vomiting, hepatomegaly, and lethargy after ingesting galactose in breast milk or formula in the first few days of life

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11
Q

Hirschsprung disease etiology

A

abnormal migration of neural crest cells into the rectosigmoid colon

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12
Q

Hirschsprung disease clinical

A

failed meconium passage and bilious emesis in a newborn due to lack of ganglion cells in rectosigmoid colon impeding gastrointestinal motility

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13
Q

Phenylketonuria (PKU) etiology

A

phenylalanine hydroxylase deficiency resulting in hyperphenylalaninemia

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14
Q

Phenylketonuria (PKU) clinical

A

developmental delay, light pigmentation, and a musty body odor

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15
Q

DiGeorge syndrome (DGS) etiology

A

neural crest fails to migrate into the derivatives of the third (affects inferior parathyroid and thymus) and fourth (affects superior parathyroid) pharyngeal/branchial pouches

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16
Q

DiGeorge syndrome (DGS) labs

A

hypocalcemia (due to parathyroid hypoplasia)

T cell deficiency (due to thymic hypoplasia)

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17
Q

Hypocalcemia presents as:

A

increased neuromuscular excitability, which manifests as tetany, carpopedal spasms, or seizures.

Chvostek sign -
Tapping on the facial nerve usually elicits twitching of the nose and lips

Trousseau sign -
inflation of the blood pressure cuff leads to carpopedal spasm

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18
Q

DiGeorge syndrome (DGS) imaging:

A

absence of thymic shadow (may be written as chest x-ray reveals decreased soft-tissue attenuation in the right anterior mediastinum) which reflects thymic hypoplasia

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19
Q

What complication may thymic aplasia lead to and why?

A

absence reflects thymic hypoplasia, which leads to T cell dysfunction and results in recurrent viral, fungal, and protozoan infections.

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20
Q

What microdeletion is associated with DiGeorge Syndrome?

A

22q11.2 microdeletion

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21
Q

What is seen clinically in a DiGeorge syndrome patient when the first and second pharyngeal/branchial pouches are involved as well?

A

hypertelorism, short palpebral fissures, micrognathia, bifid uvula, and cleft palate

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22
Q

Anencephaly etiology

A

neural tube defect due to failure of the anterior neuropore to close

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23
Q

foramen cecum

A

depression on the tongue that represents the embryological remnant of the superior end of the obliterated thyroglossal duct

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24
Q

thyroglossal cyst etiology

A

due to a persistent thyroglossal duct

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25
Q

thyroglossal cyst location

A

midline neck mass

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26
Q

Rathke pouch

A

invaginated oral ectoderm that eventually develops into the anterior pituitary

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27
Q

Craniopharyngiomas etiology

A

arise from remnants of the Rathke pouch

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28
Q

Craniopharyngiomas clinical

A

hypopituitarism, hydrocephalus, and diabetes insipidus

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29
Q

Persistence of second branchial cleft (ie, second pharyngeal groove)

A

This is normally obliterated in utero but persistence leads to a branchial cleft cyst between the angle of the mandible and sternocleidomastoid muscle.

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30
Q

Incretins

A

gastrointestinal hormones produced by the gut mucosa that stimulate pancreatic insulin secretion in response to sugar-containing meals. This response is independent of blood glucose levels, and typically occurs prior to any elevation in blood glucose level following a meal

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31
Q

Two hormones with incretin effects are

A

glucagon-like peptide-1 (GLP-1) and gastric inhibitory peptide (glucose-dependent insulinotropic peptide, GIP).

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32
Q

Insulin-like growth factor-1 produced because?

A

produced by the liver in response to stimulation by growth hormone.

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33
Q

Insulin-like growth factor-1 function

A

It functions as a mitogen and as an inhibitor of apoptosis

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34
Q

Somatostatin is produced by

A

cells in the stomach, small bowel and pancreas (“delta cells”)

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35
Q

Somatostatin function

A

decreases the secretion of secretin, cholecystokinin, glucagon, insulin, gastrin and growth hormone

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36
Q

Secretin produced because?

A

hormone produced in the duodenum in response to increased luminal acidity.

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37
Q

Secretin function

A

stimulates the release of bicarbonate-rich secretions from the pancreas, gallbladder and duodenum. It also increases the activity of cholecystokinin.

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38
Q

Cholecystokinin is produced by

A

duodenum in response to a fat or protein-rich meal.

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39
Q

Cholecystokinin functions

A

inhibition of further gastric emptying, stimulation of pancreatic enzyme secretion and stimulation of bile production and gallbladder contraction

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40
Q

Type 1 diabetes mellitus demographic

A

genetically susceptible individuals who are exposed to triggering environmental factors (eg, viral infections, environmental toxins, dietary components).

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41
Q

Type 1 diabetes mellitus etiology

A

autoimmune (cell-mediated) response against pancreatic beta cells that leads to progressive loss of beta cell mass (this causes low levels of low circulating islet amyloid polypeptide)

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42
Q

Type 1 diabetes mellitus clinical

A

develop once >90% of beta cells are destroyed

excessive thirst and polyuria

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43
Q

insulitis

A

Infiltration of islets by inflammatory cells in T1DM and is more prominent during the early stages of disease.

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44
Q

type 2 diabetes mellitus development risk factors

A

Abdominal visceral fat deposition and excessive body weight because they cause insulin resistance

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45
Q

Maturity-onset diabetes of the young genetics

A

autosomal dominant disease

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46
Q

Maturity-onset diabetes of the young etiology

A

mutations that impair glucose sensing and insulin secretion by pancreatic beta cells

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47
Q

Maturity-onset diabetes of the young clinical

A

non-insulin-dependent diabetes at a young age (<25) and accounts for <5% of all cases of diabetes mellitus

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48
Q

Islet amyloid polypeptide secreted from?

A

secreted along with insulin from pancreatic beta cells.

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49
Q

T2DM etiology

A

Insulin resistance accompanied by relative insulin deficiency is the main cause

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50
Q

T2DM histology

A

Amyloid deposition occurs in the islets

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51
Q

exogenous thyrotoxicosis etiology

A

abuse of thyroid preparations (eg, levothyroxine, porcine thyroid extracts) or inadvertently due to errors in treatment of hypothyroidism

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52
Q

exogenous thyrotoxicosis clinical

A

resemble endogenous hyperthyroidism and include weight loss, tremor, heat intolerance, and tachycardia/palpitations

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53
Q

exogenous thyrotoxicosis labs

A

suppressed TSH
suppressed RAIU
suppressed serum thyroglobulin (because thyroid metabolic activity is low)
elevated Triiodothyronine (T3) (because exogenous levothyroxine is readily converted to T3)
elevated free thyroxine (T4)

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54
Q

Radioactive iodine uptake (RAIU)

A

radioiodine tracer that is administered followed by scintigraphy of the thyroid gland
RAIU correlates with the organification of iodine and the synthesis of new thyroid hormone

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55
Q

Thyroglobulin

A

large glycoprotein in thyroid follicles that serves as a source of tyrosine residues for thyroid hormone synthesis

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56
Q

Graves disease labs

A

↓Serum TSH
↑Serum thyroglobulin
↑ Radioiodine uptake (due to excessive TSH receptor stimulation)

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57
Q

Graves disease etiology

A

due to autoantibodies that activate the TSH receptor and induce thyroid hormone production

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58
Q

subacute granulomatous thyroiditis

A

destruction of thyroid follicles and the release of preformed thyroid hormone

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59
Q

subacute granulomatous thyroiditis labs

A

Elevated thyroglobulin
elevated T3
decreased TSH
increased serum thyroglobulin

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60
Q

TBG levels in hyperestrogenic states

A

elevated

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61
Q

subacute granulomatous thyroiditis clinical

A

Painful** thyroid enlargement

Transient hyperthyroid symptoms (due to release of stored thyroid hormone)

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62
Q

subacute granulomatous thyroiditis etiology

A

typically follows an acute viral illness and is thought to be due to a cross-reacting immune response against viral proteins or tissue antigens released during cellular injury

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63
Q

subacute granulomatous thyroiditis diagnosis

A

↑ ESR & CRP (serum acute phase markers)

↓ Radioiodine uptake (low TSH levels suppress synthesis of new thyroid hormone)

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64
Q

subacute granulomatous thyroiditis treatment

A

self-limited and resolves in <6 weeks, although patients may have a brief hypothyroid phase before returning to a euthyroid state

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65
Q

subacute granulomatous thyroiditis histology

A

initially characterized by a neutrophilic infiltrate with microabscess formation, which, as the disease progresses, is replaced by a more generalized inflammatory infiltrate with macrophages and multinucleated giant cells

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66
Q

Hashimoto thyroiditis etiology

A

Autoimmune etiology

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67
Q

Hashimoto thyroiditis clinical

A

Diffuse, painless thyroid enlargement

Predominant hypothyroid features (eg, fatigue, cold intolerance)

**most common cause of hypothyroidism

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68
Q

Hashimoto thyroiditis diagnosis

A

Positive TPO antibody**

Variable radioiodine uptake

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69
Q

Hashimoto thyroiditis histology

A

Lymphocytic infiltrate with well-developed germinal centers

Hürthle cells (eosinophilic epithelial cells)

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70
Q

Papillary thyroid cancer histology

A

branching papillary structures with concentric calcifications (psammoma bodies)

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71
Q

Papillary thyroid cancer gross

A

nodular enlargement

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72
Q

Riedel thyroiditis histology

A

extensive fibrosis of the thyroid gland that extends into surrounding tissues

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73
Q

Riedel thyroiditis gross

A

thyroid gland is rock-hard and nontender

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74
Q

Graves disease histology

A

Diffusely hyperplastic follicles with tall, crowded cells forming intrafollicular projections

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75
Q

Hashimoto thyroiditis aka

A

Chronic lymphocytic thyroiditis

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76
Q

secondary (central) hyperthyroidism labs

A

elevated TSH, elevated T3, T4

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77
Q

secondary (central) hyperthyroidism etiology

A

most commonly due to TSH-secreting pituitary adenoma

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78
Q

Hyperthyroidism clinical

A

fatigue, weight loss, and palpitations associated with elevated thyroid hormone levels. Hyperadrenergic signs (eg, lid lag, tremor) are also common

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79
Q

Hyperthyroidism labs

A

Low TSH, elevated T3 and T4

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80
Q

secondary (central) hyperthyroidism clinical

A

diffuse goiter (because excess TSH causes generalized hypertrophy of the thyroid gland)

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81
Q

Effect of estrogen on TBG and consequently the thyroid levels

A

Estrogen (eg, pregnancy, oral contraceptives) causes increased production of TBG, which lowers free thyroid hormone levels. A brief rise in TSH subsequently increases production of thyroid hormone to saturate the increased TBG binding sites, and the patient returns to a euthyroid state. Total T3 and T4 are elevated, but TSH and free hormone levels are normal

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82
Q

Painless thyroiditis histology

A

autoimmune destruction of thyroid follicles with release of preformed thyroid hormone

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83
Q

Thyroid cancer gross

A

hard, asymmetric goiter

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84
Q

Thyroid cancer clinical

A

Thyroid tissue adjacent to cancer may be compressed and nonfunctional, but the contralateral lobe can usually compensate and patients are typically euthyroid

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85
Q

Fecal occult blood testing

A

screens for colorectal cancer and improves mortality through earlier detection

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86
Q

Prostate-specific antigen

A

increased in some patients with prostate cancer but testing has not been shown to improve mortality from prostate cancer

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87
Q

Aspirin use significantly reduces the risk of

A

death from coronary heart disease in diabetic patients but is less effective than smoking cessation

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88
Q

most effective preventive intervention in almost all patients

A

Smoking cessation

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89
Q

Prolactinoma clinical in premenopausal vs postmenopausal woman

A

Premenopausal women: oligomenorrhea, amenorrhea (due to the inhibitory effect of prolactin on hypothalamic GnRH release), infertility, galactorrhea, hot flashes, decreased bone density

Postmenopausal women: mass-effect symptoms (headache, visual field defects)

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90
Q

Prolactinoma clinical in men

A

infertility, decreased libido, impotence, gynecomastia

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91
Q

Prolactinoma diagnosis steps

A

Serum prolactin (often >200 ng/mL)

Tests to rule out renal insufficiency (creatinine) & hypothyroidism (TSH, thyroxine)

MRI of the head/pituitary

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92
Q

Prolactinoma treatment

A 
Dopamine agonist (cabergoline) (because of tonic inhibitory effect of dopamine on prolactin secretion)
Transsphenoidal surgery
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93
Q

Galactorrhea

A

abnormal secretion of breast milk not associated with pregnancy or breastfeeding

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94
Q

Galactorrhea etiology

A

most commonly due to excess prolactin, which directly stimulates milk secretion in the breasts

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95
Q

Prolactin regulation

A

prolactin is primarily under negative regulation by hypothalamic dopaminergic neurons via the pituitary stalk

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96
Q

Estrogen effect on galactorrhea

A

Estrogen stimulates prolactin gene transcription and secretion. Strongly estrogenic medications (eg, birth control pills) can potentially worsen rather than alleviate galactorrhea

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97
Q

Dopamine antagonists effect on galactorrhea

A

(eg, antipsychotics) directly increase prolactin secretion and can worsen galactorrhea

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98
Q

estrogen effect on prolactin

A

Estrogen stimulates prolactin gene transcription and secretion

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99
Q

TRH effect on prolactin

A

Thyrotropin-releasing hormone (TRH) stimulates secretion of prolactin by lactotrophs, although its role in regulating prolactin release is secondary to the inhibition of prolactin secretion by dopamine

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100
Q

Pulsatile Gonadotropin-releasing hormone (GnRH)

A

polypeptide that is normally released from the anterior hypothalamus in a pulsatile manner. GnRH is carried to the anterior pituitary via the portal circulation, where it stimulates FSH and LH production

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101
Q

FSH and LH function in ovaries

A

development of the dominant follicle in the ovaries. Optimal frequency and amplitude of GnRH pulses are crucial for FSH and LH release and subsequent ovulation

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102
Q

Anovulation due to hypogonadotropic hypogonadism clinical

A

common form of infertility

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103
Q

Anovulation due to hypogonadotropic hypogonadism treatment

A

pulsatile administration of GnRH and the ovulation occurs in most patients in 10-20 days

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104
Q

Signs of ovulation diagnosis

A

loss of a dominant follicle on ultrasound
surge in urine LH levels
rise in serum progesterone levels
rise in basal body temperature

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105
Q

Constant GnRH activity causes

A

down-regulation of the GnRH receptors on pituitary gonadotrophin cells, which suppresses LH and FSH secretion

106
Q

When is long acting GnRH analog therapy used

A

when suppression of gonadal function is desired, such as in certain patients with prostate cancer, endometriosis, precocious puberty, or premenopausal breast cancer.

107
Q

Hypercalcemia-induced constipation etiology

A

Primary hyperparathyroidism
Hypercalcemia of malignancy
Vitamin D toxicity
Milk-alkali syndrome

108
Q

Hypercalcemia-induced constipation clinical

A

Decreased frequency/increased hardness of stools
Nausea, abdominal pain
Non-gastrointestinal symptoms: fatigue, polyuria, neuropsychiatric disturbance

109
Q

Hypercalcemia-induced constipation pathophysiology

A

Inhibition of smooth muscle depolarization –> decreased intestinal contractility/motility

110
Q

Primary hyperparathyroidism (PHPT) etiology

A

benign parathyroid adenoma that autonomously secretes parathyroid hormone (PTH), leading to increased bone resorption, increased renal calcium reabsorption, and increased intestinal calcium absorption (due to increased production of 1,25-dihydroxyvitamin D)

111
Q

Hypercalcemia causes (pathology)

A

inhibits nerve depolarization by interfering with sodium movement through voltage-gated sodium channels, leading to impaired smooth muscle contraction and reduced colonic motility

112
Q

Hypercalcemia clinical

A

constipation, crampy abdominal pain, and nausea. Other - acute pancreatitis (due to increased conversion of trypsinogen to trypsin) and peptic ulcer (due to increased release of gastrin).

113
Q

Dyssynergic defecation pathology

A

altered passage of stool through the anorectum due to uncoordinated contraction and relaxation of pelvic floor muscles

114
Q

Dyssynergic defecation etiology

A

obstetric complications during vaginal delivery

115
Q

Dyssynergic defecation clinical

A

most patients have either anal sphincter dysfunction or the absence of perianal descent (this patient’s rectal tone is normal)

116
Q

Intestinal motor function is generally stimulated/inhibited by SNS/PNS

A

stimulated by the parasympathetic nervous system and inhibited by the sympathetic nervous system

117
Q

Colon cancer clinical

A

intestinal obstruction, which can interfere with the passage of stool

118
Q

Colon cancer labs

A

PTH suppression

associated with hypercalcemia (bone metastasis)

119
Q

Somatostatinoma clinical

A

hyperglycemia or hypoglycemia
steatorrhea (excessive fat in the feces)
gallbladder stones (because of poor gallbladder contractility, which is secondary to inhibition of cholecystokinin release)

120
Q

Steatorrhea etiology

A

decreased secretion of secretin as well as a decrease in gastrointestinal motility

121
Q

Hypochlorhydria etiology

A

decrease in gastrin release

122
Q

Why cant somatostatin be used in clinical practice

A

because of its extremely short half-life

123
Q

What to use instead of somatostatin in clinical practice

A

Somatostatin analogs (octreotide and lanreotide) have a longer plasma half-life

124
Q

Syndrome of inappropriate antidiuretic hormone (SIADH) pathophysiology

A

Uncontrolled secretion of ADH

Leads to water retention & impaired urinary water excretion

125
Q

Syndrome of inappropriate antidiuretic hormone (SIADH) etiology

A

CNS disturbances (stroke, hemorrhage, trauma)

Medications (eg, carbamazepine, SSRIs, NSAIDs)

Lung disease (eg, pneumonia)

Malignancy (eg, small-cell lung cancer)

126
Q

Syndrome of inappropriate antidiuretic hormone (SIADH) clinical

A

Nausea, forgetfulness (mild hyponatremia)
Seizures, coma (severe hyponatremia)
Euvolemia (eg, moist mucous membranes, no edema, no JVD)

**most common cause of hyponatremia following subarachnoid hemorrhage (SAH)

127
Q

Syndrome of inappropriate antidiuretic hormone (SIADH) labs

A

Hyponatremia
Low serum osmolality
High urine osmolality
High urine sodium

128
Q

11β-hydroxylase deficiency clinical

A

In genetically female infants, androgen excess leads to ambiguous genitalia, clitoral enlargement and partial fusion of the labioscrotal folds (virilization)

hypertension and hypokalemia

129
Q

11β-hydroxylase function

A

converting 11-deoxycorticosterone to corticosterone and 11-deoxycortisol to cortisol

130
Q

5α-reductase deficiency clinical

A

ambiguous genitalia in boys

Girls have normal genitalia

blood pressure and electrolytes are unaffected

131
Q

5α-reductase deficiency causes

A

defective conversion of testosterone to dihydrotestosterone

132
Q

17α-hydroxylase deficiency clinical

A

impaired sex steroid and cortisol synthesis, and increased production of mineralocorticoids

Girls are born with normal genitalia, but boys are born undervirilized (ambiguous genitalia)

hypertension and hypokalemia (mineralocorticoid excess)

do not undergo puberty (no sex steroids)

133
Q

21-hydroxylase deficiency clinical

A

Girls are born with ambiguous genitalia (androgen excess) and frequently develop hypotension and hyperkalemia (mineralocorticoid deficiency)

134
Q

21-hydroxylase deficiency labs

A

decreases glucocorticoid and mineralocorticoid synthesis and increases adrenal androgen production

135
Q

Side-chain cleavage enzyme deficiency

A

Because this is the first enzyme in the steroidogenic pathway, deficiency impairs synthesis of all steroid hormones. Complete deficiency is lethal due to absent placental progesterone synthesis

136
Q

Side-chain cleavage enzyme function

A

converts cholesterol to pregnenolone

137
Q

Central hypothyroidism etiology

A

due to hypothalamic-pituitary dysfunction

Mass lesions (eg, pituitary adenoma)
Pituitary surgery, trauma, irradiation
Infiltrative disorders (eg, sarcoidosis, hemochromatosis)
Pituitary infarction (eg, Sheehan syndrome)
138
Q

Central hypothyroidism clinical

A

Hypothyroid symptoms:
fatigue
hair loss
brittle nails

Mass-effect symptoms (eg, headache, visual field defects) if due to mass

139
Q

Central hypothyroidism labs

A

Low free thyroxine (T4)
Low or inappropriately normal TSH
Other pituitary hormone deficiencies (eg, ACTH, prolactin, gonadotropins)

140
Q

Central hypothyroidism vs primary hypothyroidism

A

Central hypothyroidism is much less common than primary hypothyroidism. However, when it occurs, other hypothalamic-pituitary systems may be affected and patients may develop deficiencies of other pituitary hormones (eg, low gonadotropin levels leading to amenorrhea).

141
Q

Sheehan syndrome definition and etiology

A

ischemic necrosis of the pituitary gland and is typically caused by systemic hypotension during delivery.

142
Q

Sheehan syndrome pathophysiology

A

During pregnancy, the pituitary gland enlarges due to estrogen-induced hyperplasia of lactotrophs, but the blood supply does not increase proportionally. Subsequent peripartum hemorrhage with hypotension can cause underperfusion of the pituitary gland with subsequent ischemic injury.

143
Q

Primary hypothyroidism etiologies

A 
Chronic autoimmune (Hashimoto) thyroiditis (MOST COMMON)
Postpartum thyroiditis
144
Q

Postpartum thyroiditis

A

variant of Hashimoto thyroiditis that occurs within a year of pregnancy

145
Q

Graves disease clinical

A

goiter and ocular manifestations (eg, proptosis, lid lag)

146
Q

screening for Cushing syndrome

A

24-hour urinary cortisol assay

dexamethasone suppression test (for endogenous)

147
Q

Initial tests for diabetes mellitus

A

fasting glucose, hemoglobin A1c, and oral glucose tolerance tests

148
Q

initial evaluation of hereditary hemochromatosis

A

serum iron studies (eg, serum iron, ferritin, transferrin saturation)

149
Q

hereditary hemochromatosis clinical

A

pituitary dysfunction with secondary (central) hypothyroidism, arthritis, diabetes mellitus, abnormal skin pigmentation, and hepatomegaly

150
Q

blood supply to the thyroid and parathyroid glands

A

superior thyroid artery (a branch of the external carotid artery) and the inferior thyroid artery (a branch of the thyrocervical trunk)

151
Q

cricothyroid muscle innervation

A

external branch of the superior laryngeal nerve course together in a neurovascular triad that originates superior to the thyroid gland and lateral to the thyroid cartilage

152
Q

nerve most at risk of injury during thyroidectomy

A

The external branch of the superior laryngeal nerve is at risk of injury during thyroidectomy as it courses just deep to the superior thyroid artery

153
Q

cricothyroid muscle O/I

A

originates on the cricoid cartilage and inserts on the lower border of the thyroid cartilage

154
Q

cricothyroid muscle function/what will happen in an injury

A

tense the vocal cords, and denervation injury may cause a low, hoarse voice with limited range of pitch

155
Q

DKA treatment

A

intravenous infusion of regular insulin, which allows for rapid adjustments in dose based on blood glucose levels. When given subcutaneously, regular insulin starts working within 30 minutes, peaks in 2-4 hours, and lasts 5-8 hours

156
Q

Cushing syndrome clinical

A

weight gain, proximal muscle weakness, hypertension, and hyperglycemia

moon facies, enlarged fat pads, hypertension, and proximal muscle weakness

157
Q

normal individuals - low-dose dexamethasone suppression testing results

A

suppress ACTH and cortisol levels through negative feedback

158
Q

Cushing syndrome - low-dose dexamethasone suppression testing results

A

ACTH and cortisol levels are not suppressed

159
Q

most common gluccocorticoid to cause cushing syndrome

A

most common with systemic agents (eg, prednisone), but can occasionally be seen with topical or inhaled glucocorticoids

160
Q

LH function in males

A

LH stimulates the release of testosterone from the Leydig cells in the interstitium of the testicles

161
Q

FSH function in males

A

FSH stimulates the release of inhibin B from the Sertoli cells in the seminiferous tubules of the testicles

stimulates the Sertoli cells to produce androgen-binding protein locally, within the seminiferous tubules

162
Q

androgen-binding protein

A

responsible for the high local testosterone concentration

163
Q

Which two hormones are necessary for spermatogenesis

A

High local levels of testosterone and FSH

164
Q

Kartagener syndrome

A

autosomal recessive form of primary ciliary dyskinesia (PCD)

165
Q

Kartagener syndrome etiology

A

wide variety of mutations that impair ciliary structure or function

166
Q

Kartagener syndrome clinical

A

triad of situs inversus (due to impaired ciliary movement during embryogenesis), chronic sinusitis, and bronchiectasis (due to impaired mucociliary clearance)

may also see:
Infertility in men (impaired sperm motility) and women (immobility of fallopian tube cilia)

167
Q

Deficiency of the C1 complement component causes

A

increased susceptibility to encapsulated bacteria (eg, Streptococcus pneumoniae, Haemophilus influenzae, Neisseria meningitidis) and also predisposes to developing systemic lupus erythematosus

168
Q

cystic fibrosis defect

A

Epithelial cell chloride channels are defective

169
Q

severe combined immunodeficiency disease (SCID) etiology

A

Defects in T-cell IL-2 receptors

170
Q

hyper-IgM syndrome etiology

A

Immunoglobulin gene rearrangement is impaired

171
Q

hyper-IgM syndrome pathology

A

B cells produce high amounts of IgM but are unable to switch production to other immunoglobulin classes

172
Q

chronic granulomatous disease etiology

A

NADPH oxidase deficiency

173
Q

Experimental studies

A

Randomized controlled trial

Nonrandomized design

174
Q

Randomized controlled trial

A

Random allocation into treatment & placebo groups

Can determine efficacy of the intervention

175
Q

Nonrandomized design

A

Nonrandom allocation into treatment & placebo groups

Can determine efficacy of the intervention

176
Q

Observational studies

A

Cohort
Cross-sectional
Case-control
Case

177
Q

Cohort study

A

Data gathered from the same individuals over time (longitudinal)
Can assess risk factors or outcomes

178
Q

Cross-sectional study

A

Data gathered at one point in time

Can determine prevalence of an outcome in a population

179
Q

Case-control study

A

Data gathered from individuals with the condition of interest (cases) & compared to individuals without the condition (controls)

180
Q

Case study

A

Detailed information gathered about one individual (or a small group of individuals)

181
Q

Meta-analysis Review

A

Data from multiple studies are statistically combined & analyzed

182
Q

Why can HLA gene cluster be treated as an HLA haplotype

A

HLA genes are clustered within a short region of a single chromosome which results in a low rate of crossover

183
Q

identical HLA match

A

1/4 chance of inheriting all the same HLA genes

184
Q

haploidentical HLA match

A

1/2 chance of inheriting half of the same HLA genes

185
Q

HLA mismatch

A

1/4 chance of inheriting none of the same HLA genes

186
Q

What does the placentation of monozygotic twins depends on?

A

when zygote division occurs during embryonic development

187
Q

dichorionic/diamniotic monozygotic twins

A

Early division (days 0-4) can result in monozygotic twins with 2 chorions and 2 amnions which may or may not be fused

188
Q

monochorionic/diamniotic monozygotic twins

A

Division between days 4-8 is the most common outcome in monozygotic twins and results in 1 chorion (eg, shared placenta) but 2 amnions

189
Q

monochorionic/monoamniotic monozygotic twins

A

Late division (8-12 days) results in 1 chorion and 1 amnion

190
Q

Most commplications are assocaited with what chorion and amnion presentation and why

A

A monochorionic/monoamniotic pregnancy is associated with a high fetal fatality rate, due primarily to the increased risk of umbilical cord entanglement

191
Q

monochorionic/monoamniotic conjoined twins

A

Division occurring after 13 days

192
Q

Dizygotic twins occur due to

A

fertilization of 2 oocytes by 2 different sperm, can be different sexes, and almost always have 2 chorions and 2 amnions (eg, dichorionic/diamniotic)

193
Q

adenomyosis clinical

A

regular (ie, cyclic), heavy, painful menses

194
Q

Adenomyosis risk factors

A

women age >40, and risk factors include multiparity and prior uterine surgery (eg, cesarean delivery)

195
Q

Adenomyosis gross

A

areas of dark red endometrial tissue (abnormal presence of endometrial glands and stroma) within the myometrium

globular, uniformly enlarged uterus (due to ectopic endometrial glands inducing myometrial hyperplasia and hypertrophy)

196
Q

Why do women with Adenomyosis have painful menses/dysmenorrhea

A

With each menstrual cycle, the endometrial tissue proliferates and sheds but the bleeding is confined within the uterine wall, causing dysmenorrhea

197
Q

Adenomyosis treatment

A

Definitive treatment is with hysterectomy

198
Q

Chronic endometritis etiology

A

intrauterine polymicrobial infection

199
Q

Chronic endometritis clinical

A

constant pelvic pain with irregular bleeding

200
Q

Chronic endometritis gross

A

Gross pathology may reveal intrauterine adhesions due to chronic intrauterine inflammation

**Because the disease process is intracavitary, there is no associated uterine enlargement.

201
Q

complete hydatidiform mole clinical

A

amenorrhea or irregular, first-trimester bleeding

202
Q

complete hydatidiform mole labs

A

markedly elevated β-hCG levels (ie, >100,000 mIU/mL).

203
Q

complete hydatidiform mole gross pathology

A

uterine enlargement with numerous edematous intrauterine chorionic villi

204
Q

Endometriosis clinical

A

dysmenorrhea due to ectopic implantation of endometrial glands and stroma in the abdominopelvic cavity causing chronic pain

Dysuria or suprapubic tenderness and dyschezia (pain with defecation) can be caused by implants on the bladder and rectovaginal septum, respectively. Bowel symptoms commonly worsen with menses

Other common clinical features include an adnexal mass (endometrioma) and cervical motion tenderness

because the ectopic implants are extrauterine, patients do not have uterine enlargement or heavy menses

205
Q

Endometriosis gross

A

black powder­–burn lesions or ovarian cysts

Rectovaginal nodularity is highly characteristic of endometrial implants and fibrosis of the posterior cul-de-sac

206
Q

Uterine leiomyomas (definition and clinical)

A

benign, uterine smooth muscle cell tumors that can cause regular, heavy menses

207
Q

Uterine leiomyomas gross

A

irregularly enlarged uterus with discrete tumors

208
Q

Uterine sarcomas

A

malignant uterine tumors

209
Q

Uterine sarcomas clinical

A

irregular, postmenopausal bleeding

210
Q

Uterine sarcomas gross

A

discrete uterine mass.

211
Q

Invasive breast carcinoma gross

A

irregularly shaped, adherent breast mass most commonly in the upper outer quadrants

212
Q

Invasive breast carcinoma pathology

A

Malignant infiltration of suspensory ligaments of the breast (ie, Cooper ligaments) causes fibrosis and shortening, leading to traction on the skin with distortion in breast contour.

213
Q

most common site of metastasis for breast cancer

A

Axillary lymph nodes

214
Q

metastasis for breast cancer pathophysiology

A

As malignant cells spread through the lymphatics, they can block cutaneous lymphatic flow, causing peau d’orange (thickened, dimpled skin like an orange peel) and is associated with discoloration and swelling of the breast

215
Q

Paget disease of the nipple etiology

A

Malignant spread of ductal carcinoma to the nipple surface

216
Q

Uterus position in endometriosis

A

The uterus is often immobile and fixed in a retroverted position due to scarring from continued cyclic shedding of ectopic endometrial tissue that has no outlet

217
Q

Colorectal hamartomas

A

benign colonic tumors

218
Q

Colorectal hamartomas clinical

A

may cause abdominal pain due to mass effect

219
Q

Endometrial intraepithelial neoplasia etiology

A

atypical overgrowth of the intrauterine endometrial lining

220
Q

Endometrial intraepithelial neoplasia risk factors

A

women with obesity, chronic anovulation

221
Q

Endometrial intraepithelial neoplasia clinical

A

abnormal uterine bleeding or postmenopausal bleeding

222
Q

Invasive urothelial carcinoma clinical

A

dysuria, but patients typically have painless hematuria

223
Q

Serous epithelial ovarian carcinoma clinical

A

typical presentation is bloating or ascites in a postmenopausal patient with an adnexal mass.

224
Q

Posttransplantation lymphoproliferative disorder pathophysiology

A

Immunosuppression following solid-organ or hematopoietic stem cell transplantation → suppressed cytotoxic T-cell immunosurveillance → Epstein-Barr virus–encoded proteins drive unchecked B-cell growth/expansion

225
Q

Posttransplantation lymphoproliferative disorder clinical

A

Mononucleosis-like symptoms (eg, fever, night sweats, hepatosplenomegaly, lymphadenopathy)

Extranodal mass in approximately 50%

226
Q

Posttransplantation lymphoproliferative disorder biopsy

A

polyclonal or monoclonal B-cell proliferation

large, atypical B cells completely effacing the lymph node architecture

227
Q

Posttransplantation lymphoproliferative disorder etiology

A

proliferation of Epstein-Barr virus (EBV) in donor or host cells due to reduced cytotoxic T-cell immunosurveillance from high dose immunosuppressive therapy.

228
Q

Risk factors for cervical cancer

A 
Infection with high-risk HPV strains (eg, 16, 18)
History of sexually transmitted diseases
Early onset of sexual activity
Multiple or high-risk sexual partners
Immunosuppression
Oral contraceptive use
Low socioeconomic status
Tobacco use
229
Q

neonatal Graves disease etiology

A

Transplacental transfer of TSH receptor–stimulating antibodies in a mother with Graves disease

230
Q

neonatal Graves disease clinical and labs

A

tachycardia and irritability, and laboratory evaluation would show high T4 and low TSH

231
Q

Polycystic ovary syndrome clinical

A

Androgen excess (eg, acne, male pattern baldness, hirsutism)
Oligoovulation or anovulation (eg, menstrual irregularities)
Obesity
infertility
Polycystic ovaries on ultrasound

232
Q

Polycystic ovary syndrome labs

A

↑ Testosterone levels

↑ Estrogen levels leading to a LH/FSH imbalance

233
Q

Polycystic ovary syndrome pathophysiology

A

FSH remains low relative to LH, there is no maturation and release of a single, dominant ovarian follicle (ie, anovulation). Instead, multiple, smaller follicles accumulate fluid to cause the classic appearance of bilateral, enlarged, polycystic ovaries

234
Q

atrophic endometrium labs

A

low estrogen (eg, menopause)

235
Q

Cushing syndrome etiology

A

cortisol excess, usually due to a hyperfunctioning adrenal adenoma (which causes compensatory contralateral, not bilateral, adrenal atrophy) or an ACTH-producing pituitary adenoma

236
Q

Polycystic kidney disease inheritance

A

inherited condition with juvenile and adult forms

237
Q

Polycystic kidney disease clinical

A

hypertension, flank pain, hematuria, and renal insufficiency

238
Q

Bradykinin

A

component of the kinin system. It is a short-lived peptide that causes vasodilation, increases vascular permeability, stimulates endothelial smooth muscle dilation, and mediates pain.

239
Q

Erythropoietin

A

growth factor for erythrocyte precursors in the bone marrow. It is produced by peritubular cells of the kidneys in response to hypoxia

240
Q

Leukotriene B4

A

metabolite of arachidonic acid. Its main function is to stimulate neutrophil migration to the site of inflammation.

241
Q

Platelet-activating factor

A

released by endothelium, platelets, and immune cells, and is involved in leukocyte function (eg, endothelium attachment, phagocytosis, degranulation), platelet stimulation, and changes to vascular tone and permeability.

242
Q

Thromboxane A2

A

one of the products of the cyclooxygenase pathway. It is synthesized by platelets and causes platelet activation and aggregation. It does not cause erythrocyte aggregation or rouleaux formation.

243
Q

Protein synthesis process

A
  1. Transcription of DNA into pre-mRNA within the nucleus
  2. Posttranscriptional modification (ie, pre-mRNA processing), including splicing of introns and the addition of a 5’ cap and poly-A tail
  3. Translation of mRNA to protein at the ribosomes
  4. Folding of the amino acid chain into a protein structure
  5. Posttranslational modification and trafficking to the correct destinations
244
Q

Inclusion cell (I-cell) disease

A

defect in posttranslational modification in the Golgi body where defect in a phosphotransferase enzyme prevents phosphorylation of mannose (aka tagged with mannose-6-phosphate)

Lysosomal acid hydrolases are therefore transported inappropriately to the extracellular space, causing an increase in serum concentration and a decrease in intracellular concentration

Without acid hydrolases to degrade cellular debris within lysosomes, the waste products (eg, mucolipids, mucopolysaccharides) accumulate and form inclusion bodies characteristic of the disease.

245
Q

I-cell disease clinical

A

skeletal abnormalities (eg, coarse facial features), developmental delay, cloudy corneas, and recurrent respiratory infections. I-cell disease is generally fatal in childhood.

246
Q

DNA methylation

A

silences gene transcription so that the affected protein would be completely absent

247
Q

pathologic example of DNA methylation

A

inhibition of tumor suppressor genes as a mechanism for cancer development.

248
Q

cystic fibrosis etiology

A

defect in CFTR protein folding resulting in abnormal protein functioning

249
Q

Splicing mutations

A

result in inappropriate removal of exons or persistence of introns; this creates aberrant mRNA that is presented for translation and results in production of an abnormal protein

250
Q

ultraviolet light exposure causes what change in DNA?

A

Pyrimidine dimers are formed in DNA as a result of ultraviolet light exposure. They are recognized by a specific endonuclease complex that initiates the process of repair by nicking the damaged strand on both sides of the pyrimidine dimer. The damaged segment is then excised, and replacement DNA is synthesized by DNA polymerase

251
Q

pyrimidine dimers

A

formation of abnormal covalent bonds between adjacent thymine or cytosine residues

252
Q

xeroderma pigmentosum etiology

A

Mutations that impair the components involved in nucleotide excision repair

253
Q

xeroderma pigmentosum clinical

A

severe photosensitivity and the development of skin cancers at a young age.

254
Q

ionizing radiation (Xrays and gamma) exposure causes what change in DNA? and how can this be fixed?

A

double-strand DNA breaks. The fractured ends can be joined by nonhomologous end joining

255
Q

Deamination of DNA bases etiology and corrected by?

A

can occur spontaneously or secondary to chemical exposure. These errors are corrected by base excision repair

256
Q

base excision repair process

A

abnormal bases are recognized and removed by specific glycosylases without disruption of the phosphodiester backbone. The apurinic and apyrimidinic residues are then removed by specific endonucleases and replaced with the correct base by DNA polymerase.

257
Q

Vesicovaginal fistula defintion and etiology

A

abnormal connection between the bladder and vagina that most commonly occurs due to bladder injury from surgical or obstetric complications

258
Q

Vesicovaginal fistula clinical

A

continuous urinary dribbling rather than intermittent urinary leakage, and pelvic examination shows leakage of urine from the vagina (not the urethra)

259
Q

intraductal papilloma clinical

A

unilateral, bloody nipple discharge with no associated breast masses, skin changes, or axillary lymphadenopathy

**most common cause of pathologic nipple discharge

the bloody discharge results from twisting of the vascular stalk of the papilloma in the duct.

260
Q

intraductal papilloma histology

A

epithelial and myoepithelial cells lining fibrovascular cores forming papillae within a duct or cyst wall

261
Q

Vaginal adenosis

A

persistence of glandular columnar epithelium in the vagina and is a precursor for clear cell adenocarcinoma of the vagina. Female offspring exposed to diethylstilbestrol in utero are at increased risk and may present with vaginal discharge or vaginal cysts/fleshy colored lesions.

UWorld Reviews (1 decks)

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