Section 1
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SLOS Syndrome
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Last updated
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Date created
Mar 1, 2020
Cards (131)
Section 1
(50 cards)
SLOS Syndrome
Autosomal recessive Inheritance syndrome. Deficiency in 7-dehydrocholesterol-7-reductase.
Acromegaly
Disease that affects adults in middle age due to over production of GH. Clinical symptoms include a large jaw, gaped teeth, internal organ swelling, large tongue, tingling and hands shaped.
Atropine overdose
Overdose of this drug causes: Hot temperature, vasodilation, No salivation, and makes you "crazy". Expression: "red as a beet, dry as a bone, mad as a hatter"
Deformity due to osteoporosis
Accentuation of thoracic curvature. Loss of secondary curvature, loss of height. Altered positions and compression of internal organs.
Familial LCAT Deficiency
Deficient LCAT. Inability to esterify cholesterol. Clinical Presentation: Corneal clouding, mild anemia, proteinuria.
Meromelia
Disease where a portion of the limb forms
Amelia
Disease where none of the limb is formed
Pericarditis
Pericardial friction rub due to inflammation of the pericardium (visceral and parietal). Can lead to a cardiac tamponade. Causes include infection, metabolic, and cardiovascular disorders. Main symptom is chest pain.
Wearing high heels
Causes some of the same problems as being pregnant because it causes females to change their center of body mass (pushes it forward). Can sometimes lead to loridosis and minor kyphosis.
Senile Kyphosis
Geriatric degeneration of the thoracic curvature. Can occur in any age group. Symptoms include intrinsic muscle weakness, disc aging and osteoporosis.
Scoliosis
lateral deviation and malrotation of the vertebral column. Happens mainly in the thoracic region but can include lumbar or cervical. MOST COMMON IN YOUNG FEMALES. Idiopathic (don't know the origin). Causes rib malformation, that can look like kyphosis. But not, kyphosis bc back hump is due to ribs and not vertebrae.
Polythelia
Accessory (supernumerary) Nipples
Spina Bifida - Myelocele (AKA rachischisis; myeloschisis)
Failure in neurulation. "Open book" neural tube. Most severe form of this disease (usually fatal). Cystic portion of the disease is more ventral than dorsal like the other forms of this disease.
spina bifida occulta
Small vertebral arch defect (opening in arch) although there was a normal neural tube. Spot of defect is usually marked by a dermal dimple & hair tuft. Usually in the sacral levels of the vertebrae. Usually minor anomaly and asymptomatic. 10% of general population has this defect at the L5,S1 level.
Acutane
A metabolized form of retinoic acid. If it is in high concentration, then it shuts down the apical ectodermal ridge and stops further outgrowth of the limbs.
Polydactyly
Having extra digits
Myxedema
Thyroid gland produces inadequate amounts of thyroid hormone (hypothyroidism). Common in females over 50. Symptoms include constipation, depression, dry skin, thickening of skin and weight gain.
spinda bifida cystica
Vertabral arch is usually defective and has a cyst-like sac. Lumen of the actual cyst is in the subarachnoid space (wall consists of dura-arachnoid). Disease is strongly associated with alpha-fetoprotein levels. Major content of cyst is CSF. Most common in the lumbosacral region
Addison's Disease
Disease causing hyperpigmentation. Pituitary releases excess ACTH (adrenocorticotropic hormone) to stimulate adrenals due to insufficient production of cortisol from the adrenal cortex. ACTH stimulates Melanocytes to produce more melanosomes and melanin.
Anencephaly + Myelocele
Cranial equivalent to the myelocele. Spina bifida of the head basically.
Goiter
Enlargement of thyroid gland, causing swelling in neck. Due to deficiency in iodine in diet.
Spina Bifida - meningomyelocele
Cystic Spina Bifida where the spinal cord and/or spinal nerve roots are displaced. Usually have neurological deficits below the level of the defect.
Cholelithiasis
Cholesterol gallstone disease. Decreases amounts of bile acids in bile. Obstruction, malabsorption of bile acids, or bile acid synthesis suppression. Treatment: Gall bladder removal or oral chenodeoxychllic acid.
Vitiligo
Loss of pigment in pathces. Usually due to unexplained death of melanocytes. Theories include: due to stress, family history, excess sun exposure or autoimmune disease.
Statin
A competitive inhibitor of HMG CoA reductase. Reduces LDL levels but not HDL levels. Ex. include Lipitor, Altoprev, and Crestor.
Garve's disease
Hyperthyroidism; IgG antibodies attach to the TSH receptor causing it to produce too much thyroid hormone. Symptoms include exophthalmos (bulging eyes), increased HR, muscle weakness and disturbed sleed
Spina Bifida- meningocele
Dura-arachnoid protrusion + CSF cyst. The neural tube is in its normal position. Least severe form of cystic spina bifida.
Sarin Nerve Gas
An agent that is a cholinesterase Inhibitor. Causes bronchial secretion, bradycardia, intestinal distress (super SLUD + nicotinic effects)
Diabetes insipidus
Kidneys fail to reabsorb water, resulting in excessive urination; hypo-secretion of ADH
Disease based kyphosis (tuberculosis AKA Pott's disease)
A bacterial disease that can get fixed in the vertebrae and cause them to degrade and eventually collapse on itself due to degeneration
Polymelia
Having excess limbs
Polymastia
Accessory (supernumerary) mammary gland
Lordosis
Malformation of either of the secondary curves. Lumbar or cervical. Most commonly found in lumbar region. Associated with pregnancy (usually lumbar region)
Folic Acid
This supplementation has been shown to have a high correlation to preventing spina bifida
Formication
A tactile hallucination that insects are crawling over or within the skin.
C6, Thumb/ T4, Nipple/ T10, Umbilicus/ L1, Inguinal ligament/L4 Big Toe
The different reference dermatomes
Spinal Muscular Atrophy
A motor neuropathy. "Floppy Baby". Degenerative GSE neurons that cause babies to have hypotonia (weak muscle tone).
Hydroquinone
Active ingredient to treat "age spots". This ingredient interferes with tyrosinase activity and inhibits melanin synthesis in those age spots.
Cretinism
Extreme form of hypothyroidism present prior to or soon after birth
Kyphosis
Exaggerated curvature of the thoracic spine
3 spinal segments (1 major segment + 2 adjacent overlapping minor segments)
What spinal segments make up a dermatome
Addison's Disease
Adrenal gland fails to produce enough corticosteroids
Syndactyly
Disease where there is failure of apoptosis between digits
Tangier Disease
Complete absece of ABCA1. Can't transfer cholesterol to nascent HDL. No mature HDL formed. Symptoms: neuropathy, lymphadenopathy and hepatosplenomegaly and deposits of cholesterol in macrophages, neural cells and bone marrow
Gigantism
Hyper secretion of growth hormone during childhood
Cushing's syndrome
Overproduction of ACTH and cortisol. symptoms include thinning of hair, weight gain, acne, moon face and slow wound healing.
Albinism
Genetic Defect in tyrosinase synthesis and no melanin production in the melanosomes.
Shingles
A sensory neuropathy. Degenerative GSA neurons. Due to re-animation of chicken pox virus in the dorsal root ganglion.
Atropine/scopalamine
Drugs that block muscarinic receptors (All parasympathetic receptors and sympathetic sweat receptors). Also a competitive muscarinic antagonist.
Dorsal Rhizotomy
Cutting of the dorsal root in order to stop persistent pain. Can be used to alleviate pain in cerebral palsy.
Section 2
(50 cards)
Lateral Horn
Where are the cell bodies of the General Visceral Efferent (GVE) nerves?
Cytocrine secretion
The infection of
Type A Niemann Pick Disease
SMPD1 gene mutation. Infantile version. Enzyme is present but not active. Clinical symptoms are enlarged liver and neurological degeneration
Dorsal Root Ganglia
Where are the afferent cell bodies found
melanosomes into keratinocyte cytoplasm; melanosomes accumulate over the keratinocyte nucleus (between the skin and the nuclei)
Type 5 Hyperlipoproteinemia
Elevated chylomicrons and VLDL. Associated with diabetes, obesity, Kidney disease and alcoholism
Mastectomy
Surgical removal of all or part of the breast
GH works directly on tissues to cause growth (chondrocyte differentiation) and its indirect is through the release of IGFI. IGFI also stimulates growth (chondrocyte proliferation), muscle growth and AA uptake and protein synthesis in cells. GH also maintains blood glucose level; supresses insulin ability to cause cell glucose uptake.
What are the direst and indirect effects of growth hormone?
Peripheral (aortic and carotid; stimulated by O2 decrease) and central (medulla; stimulated by an CO2 increase). Chemoreceptors primarily regulate respiration
Where are your chemoreceptors located and how are they stimulated?
Hyperlipidemia
5 phenotypes concerning lipid metabolism. Related to diet, chronic disease and lifestyle choices. Clinical presentations varies.
Valsalva Maneuver
Effect when a person expires against a closed airway. Causes the intrathoracic pressure to increase and therefore a raise in the pressure of the venous side of vessels. Causes decrease in venous return, decreased CO and decreased MAP. HR increases to bring MAP back up.
Neural Crest
Embryonic structure that melanocytes are derived from
Type C Niemann Pick Disease
NPC1 and NPC2 gene mutation. Affects the protein transport of lipids.Adult onset.
Stratum Granulosum
Layer of epidermis that has abundant keratohyaline granules containing the histidine rich protein filaggrin. Cells also contain lamellar granules that have GAGs and phospholipids (helps protect against dehydration).
ANP (atrial natriuretic peptide)
A peptide that lowers BP. It causes vasodilation which decreases peripheral resistance and Na+/H2O excretion. This all lowers the BP.
Eleiden (matrix derived from Keratohyaline granules and immature keratin)
Stratum Lucidum (only visible in thick skin) contains what?
Type 3 Dysbetalipoproteinemia
Dysfunctional ApoE that does not bind to Apo E receptor. Increased risk for atherosclerosis. Rare
Niemann Pick Disease
Autosomal recessive lysosomal enzyme disease where there is a shingomyelinase deficiency so accumulation of sphingomyelin. Have Different types.
Arteriovenous Anastomoses (shunts)
Direct connection b/w arteries and veins that are controlled by sphincters. Closed; directs blood through shunt i directly into veins increasing BP and reduce loss of body heat. Opened; blood flows into capillaries and BP increases and heat loss occurs.
The amount of melanosomes and melanin not melanocytes
What accounts for the difference in skin color between races
Are attached to the basal lamina through hemidesmosomes; not attached to keratinocytes
Are melanocytes attached to keratinocytes or the basal lamina?
Type 1 Hyperchylomicronemia
Deficiency of lipoprotein lipase. Deficiency of Apo C11
Fabry Disease
Only lysosomal disease that is not autosomal recessive but X-linked recessive. Accumulation of Globosides due to a alpha galactosidase deficiency. Biggest clinical presentation is a rash.
Sphinglolipidosis
A specific lysosomal enzyme is deficient; one sphingolipid accumulates; most of these diseases are autosomal recessive except Fabry's. Diagnose by enzyme activity analysis, DNA analysis and histology. Treatment: Enzyme replacement therapy and bone marrow transplant
Type 2 Hypercholesterolemia
Elevated plasma LDL levels. Risk factor for CHD (Congenital Heart Disease). Very Common.
Lung Inflation reflex
Taking a breath causes the parasympathetic system to slow down. This causes an increase in HR when BP decreases.
Tyrosinase (converts tyrosine to DOPA); Last step turn dopaquinone to melanin
Enzyme for melanin synthesis that occurs in melanosomes.
It matches CO to the venous return. Venous return is associated with stroke volume. Other words, increased blood volume causes increased stretch of myocardium and increased heart pump force
What is the premises of Starling's Law of the Heart
Myotomes
General Somatic Efferent nerves originate from what part of the embryo
Associated with alpha-fetoprotein levels. Can be determined early prenatally through ultrasound. Most common in lumbosacral region but can occur elsewhere. It is spina bifida that has a fluid like sac.
All Spina bifida cystica
metachomatic leukodystrophy
Arylsulfatase A deficiency. Causes mental retardation and demyelenation.
Sabaceous or oily glands (holocrine), Apocrine sweat glands (Apocrine), Eccrine or watery glands (merocrine)
What are the types of glands and what type of secretion do they have?
Transverse Pericardial Sinus (under ascending aorta & pulmonary trunk); Oblique Pericardial Sinus (Between the 2 right and 2 left pulmonary veins)
What are the two pericardial sinuses of the heart?
Cushing Reaction
When there is less blood flow to brain due to compression, intracranial pressure or injury. There is an increased sympathetic outflow to the periphery to cause vasoconstriction to other organs so that blood can be diverted to the brain.
Type B Niemann Pick Disease
Usually happens during life and adulthood. Hepatosplenomegaly.
Primary Ventral Rami go to hypomere and primary dorsal rami go to the epimere
What are the innervations of the myotome derivatives, the epimere and hypomere
Renin cleaves Angiotensin to make Angiotensin 1. ACE cleaves Angiotensin 1 to make Angiotensin 2. Angiotensin 2 Activates AT receptor causing the release of aldosterone. Losartan blocks Angiotensin 2 activity; used in patients with hypertension
What is the enzymatic pathway for RAAS system? What is the enzyme molecule that blocks angiotensin 2?
Type 4 Hypertriglyceridemia
Elevated VLDL and triglycerides. Increased risk of atherosclerosis. Associated with diabetes II, Alcoholism, and high carb diet.
Gangliosidosis
Deficiency of GM1 beta galactosidase. causes mental retardation, hepatosplenomegaly, and skeletal deformation.
If the patient has elevated intracranial pressure, DO NOT GIVE THEM A LUMBAR PUNCTURE
What procedure should you not do if your patient has increased intracranial pressure? Can cause herniation in head and headache.
Pharyngeal Arches
Skeletal muscle that originated and form Specialized Visceral Efferent (SVE) nerve muscles
Hypomere makes up the superficial and intermediate layers of the back (except trapezius); Epimere makes up the deep layers of the back
Which divisions of the myotomes make p the back muscle layers?
Pituitary ACTH
What stimulates melanocye synthesis?
Pectinate muscles
Makes up the rough walls of the atria
The Ventral Horn
Where are the GSE neurons found?
Extension and medial rotation of the arm
What are the movements that the latissimus dorsi do?
familial Hypercholesterolemia
Deficiency in LDL receptors. heterozygotes have less that 50% functioning LDLR. Cells increase rate of de novo cholesterol synthesis . Increased risk for Coronary heart disease. Increased plasma cholesterol.
The Dorsal Horn
Where are interneuron cell bodies found
Anterior Horn
Where are the cell bodies of the General Somatic Efferent (GSE) nerves?
Tay
Sachs Disease- Autosomal recessive disease caused by a HEXA Gene mutation. Hexosaminidase deficiency. Accumulation of GM2. Clinical Presentation: Neurological deterioration of infants so death before age 3 (so can't pass disease), blindness and hepatomegaly in infant version. Rare but can have symptoms (less severe than infant form) that can develop later on in life.
Section 3
(31 cards)