Mixto 3 Flashcards
Precursores de NAD
Niacin
Triptophan
Nicotinamide
Brief psychotic episode vs schizophreniform disorder vs schizophrenia
-1 day up to less than a month
-a month up to 6 months
-six months + functional decline
Trazodone is used for__ and it can cause___ (rare but severe)
Insomnia associated to depression
Priapism
Fetal lung maturity markers ___ increase by week 30
Lecithin (or phosphatidylcholine) / sphingomyelin > 2
The more accurate a test, the ___ to 1 the area under the curve (AUC)
Closer
C.difficile pathogenic mec
Toxins A and B disrupt cytoskeleton integrity
Forms pseudomembranes
Rapid action anesthesia effects
-Propofol (Gaba agonist) reduces airway resistances Vit adv. e is vasodilation
-Etomidate: (gaba agonist) hemodinamically neutral. Adv. e is adrenocortical suppression
-Ketamine (NMDA antag): analgesic effect and brochodilation. Adv e is tachycardia
Thrombotic thrombocytopenic púrpura key dg feature
Hemolytic anemia
Vit E deficiency
Fat malabsorption
Neuro musc sts
Hemolytic anemia
Pulmonary hamartomas microscopy
Well circumscribed nodules of catilaginous tissue
Atypical mucin cells on thoracocentesis. Think of
Adenocarcinoma
Relationship of citrate and kidney stone prevention.
Hypocitruria will cause__
-Citrate binds Ca+2 preventing Ca+2 - oxalate complexes.
-Stone formation
Cancer cells generate most of their energy via ___ even if O2 levels are ok
Anaerobic glycolysis
Pt with mild pharyngeal erythema, cough and patchy interstitial infiltrates. Gram show no organisms. Think of ___. Treat with__
“Walking pneumonia” by Mycoplasma
Prot synthesis inhibitors like macrolides or tetracyclines (mycoplasma has no cell wall)
Myotonic dystrophy features
Distal musc weakness + delayed muscle relax after contraction (persistent grip myotonia)
Autosomal dom muscular dystrophy
Trinucleotide repeat expansion
Affects type l fibers (slow-twich)
Pembrolizumab is a checkpoint inhibitor which acts
Blocking PD-1-> restoring CD8 cells -> promoting apoptosis
V/Q mismatch and intrapulm shunting with decrease dead space ventilation vs increase dead space ventilation
Decreased in Pulm Edema
Increased in Pulm embolism
Un order to be absorbed in the terminal ileum, B12 must __. This won’t occur if there’s pancreatic insufficiency.
be released from R prot complex by pancreatic proteolytic enzymes
Bind to intrinsic factor and finally be absorbed.
Shiga toxin in EHEC affects
60S ribosomal subunit-> stopping prot synthesis-> cell death
Xa inhibitors like Rovaroxaban are preferred over Vit K antagonists when prolonged anticoagulation is required because
It has less variability in therapeutic effects
Acute measles infection depleted Vit __ stores
A
Pt from Ohio or Mississippi with calcified lesions on lung, mediastinum and spleen that are stable over time and asymptomatic. Think of
Histoplasma capsulatum
Sterile platelet-rich thrombi attached to mitral valve. Think of
Advanced malignancy (hypercoag and inflamm state)
Which nerve is directly associated (under) the int carotid artery in the cavernous sinus ?
Abducens
Which antidepre are associated with sexual dysfunction and which is not.
SSRI, tricyclics, trazodone 🏴☠️
Bupropion 😉
TAVI main complication
Ao regurgitation
Anogenital warts (verracous is looking) by VPH are treated with
Imiquimod
Colonic polyps transformation into adenoma is caused by___ and into carcinoma by__
KRAS gene activation
P53 gene inactivation
Mycobacterial infection defense depends on
Macrophages-> release IL-12-> Tcells -> INF gamma
Drugs that use just antigen binding fragments improve
Tissue penetration of the drug (smaller than full Ig)
Methylmalonic acidemia mec
Mut of Methylmalonic-CoA mutase impaires (propionyl-CoA → methylmalonyl-CoA → succinyl-CoA - TCA cycle).
Acid fast stain (+) means failure of decolorization with hydrochloric acid and OH. Organisms in which is used are
Mycobacterium
Nocardia
Bartonella associates to which disease?
Bacilliary angiomatosis
Absence seizures are treated with
Ethosuximide (only absence sts)
Valproic acid (if tonic-clonic mov)
Target shaped lesions on skin, think of
Erythema multiforme
Etanercept, infiximab and adalimumab are TNF-a inhibitors, before starting tto, make __ test
Tuberculin (impaires cell-mediated immunity)
Dissociative amnesia associates to
Forgetfulness of one specific event
Centriacinar vs panacinar emphysema associations
Centri: cigarette smoking
Pana: a-1 antitrypsin def
Mass in left atrium, think of___. It mimicks__. Histologically there are ___
Atrial myxoma
Mitral stenosis
Scattered cells in mucopolysaccharide stroma
In DNA replication, daughter strands differ the most on
Joining of DNA fragments by ligase (acts more on lagging strand than on leading one)
Premature NBs with <32 gestation require ___ to increase surfactant production
Corticoids
Recurrent inexplicable panic attacks (at least one is spontaneous), think of
Panic disorder
Chronic multiple worries (at least 6mo), anxiety and tension. Think of
Generalized anxiety disorder
Ivermectin is used to treat
Strongyloides s.
Nifurtimox is used to treat
Chagas’ disease (Trypanosoma cruzi)
Candida albicans distinctive feature from other candidas is its ability to
Form germ tubes
Haemophilus reqs x factor and V factor (NAD+) to grow. ____ produces the latest
S. Aureus
Adenovirus key features
Outbreaks (crowded places)
All year long
Pharyngoconjunctival fever (small % of pneumonia)
Common complication in premature NB is ___ from___
Inter ventricular hemorrhage
Germinal matrix
High levels of amylase without pancreatitis, think of
Parotitis
Glucagon causes glycolisis via
G prot on-> adenylyl cyclase -> AMP into cAMP -> PKA on -> phosphorylation of glycogen phosphorylase -> glycogen into globose-1 phosphate
Which enzyme promoted by insulin dephosphorylates glycogen synthesen leading to its activation
Protein phosphatase
Innervation of pelvic floor muscles and urinary sphincter
S2-S4
Inactivated influenza vaccine mec
Produces neutralizing antibodies against hemagglutinin antigen -> preventing viral entry
Increase prevalence + unchanged incidence. Think of
Prolongation of the disease
Highest obstructive apnea occurs during ___ of tongue, oropharynge, soft palet. This occurs during___ phase of sleep in __ position
Relaxation
REM
Supine
BZD withdrawal sts (tremor, rebound anxiety, insomnia, SNS hyperactivity) is treated wth
Long acting BZD (diazepam)
Congenital diafragmática hernia features
During first trimester, pleuroperitoneal folds don’t close properly-> abdo organs can move into thoracic space -> compression of lungs-> Pulm hypoplasia
Neurodegenerative disorders (Parkinson and Alzheimer’s) are usually associated to impairment of___. When it fails ___ start to aggregate
Ubiquitin-proteasome
Proteins
Histone acetylation is impaired in
Huntington disease
Common cause of metabolic acidosis with normal AG
Renal tubular acidosis
Maculopapular rash + fever while in mountain camping, think of
Rocky Mountain spotted fever by Rickettsia r
In hypovolemic shock, urea is
Reabsorbed
Atrophic kidney associated to a mass filling renal pelvis + recurrent UTIs + flank pain and hematuria. Think of ___
Struvite kidney stones
Struvite kidney stones is associated to ___ rods
Urease-producing organisms (Proteus and Klebsiella)
Most common cause of nephritic sd is ___
Immune complex deposition
Nephritic sd with normal serum complement levels, think of
IgA nephropathy
*usually associated to recent resp infection but must be suspected even if not present
Main attack mec for fighting encapsulated bacteria
MAC formation by complement prots (C3b, C5-C9)
Acyclovir:valacyclovir mec of action
Incorporates into viral DNA and terminates its synthesis
Rhinovirus features
Naked
SS (+)
IgA vasculitis features
Purpuric rash
Arthralgias
Renal compromised (hematuria, HTA)
Gastro involment
**leukocytoclastic vasculitis
Generalized anxiety disorder lasts ___ and can be treated with
6 or more months
SSRI (citalopram) or SNRI
MHC class ll is expressed on __. This is encoded by___. If this gene is affected, there will be no
B cells, macrophages
HLA-DR gene
Presentation of antigens processed in lysosomes
3-5 days of delayed reperfusion in AMI can lead to
Papillary musc rupture/damage
Interventricular septum rupture
5-15 days after MI, there could be
Free wall rupture and subsequently hemoperitoneum/ cardiac tamponade
Several months after MI, there could be
Left ventricular aneurysm
Which TB drug is hepatotoxic
Isoniazid
Nerve conduction in demyelinating neuropathy vs axonal neuropathy
DN: delayed or blocked
AN: reduced amplitude
Pt with depre + suicidal ideation +impulsivity when feeling rejected, think of
Borderline personality
Borderline personality vs bipolar disorder
Borderline has transient mood shifts, impulsivity in response to triggers
Entamoeba H reqs dual TTO because
Metronidazole is for killing trophozoites
Paromomycin to eliminate intraintrstinal cysts
Low reticulocyte count + high Lactate DHG + jaundice after taking new medication, think of
G6PD deficiency
Extra mammary nupples are the result of the incomplete involution of ___. Extra nipples present as
The mammary ridge
Lesions similar to nipples tender before menses
Cancer cells common survival mec
Expression of PD-L1 that binds to PD-1 on activated T cell-> cannot produce perforins nor IL-2
miRNA are involved in___ and is associated with
Development of several diseases
mRNA degradation and translational repression
4 major dopaminergic pathways
Mesolimbic
Mesocortical
Tuberoingundibular
Nigrostriatal
Which dopaminergic pathway is associated to prolactin inhibition
Tuberoinfundibular
Sacubitril mec of action
Enhances and prolongs activity of ANP and BNP by inhibiting metaloproteases
In fetal circulation, IVC blood is rich in O2 due to
Foramen Ovale shunting that moves blood from the right to the left ventricle and from there to the LV, Ao and rest of the body
*remember lungs are not working
Pt unable to flex distal interphalangeal joint, think of
Flexor digitorum profundus lesion
Pt unable to flex PI, think of
Lesion in flexor digitorum superficialis
Blastomyces dermatitidis features
Mississippi and Ohio river valley
Pulm infections in immunocompetent with extrapulm sts if immunocompromised
Granuloma formation
Round yeast with broad based budding and think walls
Aspirin intoxication in children or Reye sd causes
Hepatic disfx (hiperammnonemia) -> acute liver failure
Microvesicular steatosis in liver
Diffuse Astro cute swelling-> rapidly progressive encephalopathy
Familiar Alzheimer’s disease is associated to ___ allele
Apolipoprot E-4
Mut of methylene tetrahydrofolate reductase leads to decreased
Methionine
Monoclonal antibodies features
From single B cell populations/ plasma cells
Bind to a single epitope
Very specific
Polyclonal antibodies features
From multiple B cell populations
Multiple different antibodies
Bind to different epitopes
Broader response
Latidsimus dorsi musc function
Extension, adduction, int rotation of humorous
Innervated by thoracodorsal nerve
Pseudomonas features
Gram (-)
Non-lactose fermenting
Pulmonary capillary wedge pressure is reflected in
Left atrial pressure
BB act on Beta 1 receptors found in __ and ___
Cardiomyocytes and yuxtaglomerular cells
Homocistenuria is associated to cystathionine beta synthase which need Vit ___ as a cofactor
B6
Pus related cytokine
Inflammation limitating enzyme
IL-8
IL-10
NB continues systolic and diastolic murmur that ceases after 24, think of __ described as
Ductus arteriosus
Arterial left to right shunt
Group A protein that is similar to myosin ___ it works by
M protein
Resisting phagocytosis
Rubeola/measles complications
Pneumonia
Encephalitis (days)
Disseminated encephalomyelitis (weeks)
Subacute sclerosing
panencephalitis (years)
Digoxin toxicity presents as___. Suspect in
Gastro( Anotexia, nausea, vomiting, abdo pain) and neuro
(Confusion, weakness, changes in color vision) sts
Elderly pts with controlled HF
Which 2nd generation antipsychotics have higher risk of developing metabolic syndrome
Clozapine
Olanzapine
Which antipsychotic is the only o e that reqs monitoring neutrophils due to risk of agranulocytosis
Clozapine
Decreased number of tranverse tubules (T tubules) IB musc lead to
Uncoordinated contraction of myofibrils
Which drug competes with nicotine binding to its receptor, decreases cravings and pleasurable effects from
Varenicline
ARB vs ACEs
ARBs bind to angiotensin ll receptor blocking it (they don’t decrease its synthesis) don’t affect bradykinin
ACEs: decrease Agiotensin ll by blocking its conversion from Angiotensin l. Increase bradykinin
Teenager with difficulty moving, kyphoscoliosis, foot abnormality and similar fam history, think of__
Friedreich ataxia (spinocerebellar, lat corticospinal and dorsal columns degeneration)
Protease inhibitors in HIV TTO like Lopinavir can cause__ (adverse effects)
Lipodyateophia
Hyperglycemia
Kid with returning from summer camp with painful oral vesicle/ulcers + maculopapular vesicles on hands and feet, think of __ watch out for
Hand-foot-mouth diseas by Enterovirus
Myocarditis
aseptic meningitis
Invaginated small intestine into colonic segment is called __ which is associated to__ which causes
Intussusception
Viral infection
Hypertrophic of intestinal lymphoid follicles
Klinefelter sd features
XXY
Learning probs
Gynecomastia And Small testes (primary hypogonadism)
tanner 1
HER2 positive breast ca is treated with __ which acts via
Transtuzumab
Preventing activation of tyrosine kinase receptor -> apoptosis
Viral meningitis is caused by
Enteroviruses (most common)
Arboviruses
HSV-2
Bacterial vs viral meningitis
B: WBC > 1000, neutro predominance, glucose <45
V: WBC < 500, lymphocytic predominance, glucose N or little reduced
Vegan diet deficiencies
Common: vitamin B12, vitamin D, calcium
Possible*: iron (women), zinc (children)
Right (ascending) vs left (rectosigmoid) colon Ca
Right: large, bulky, protrude colonic lumen. Risk of bleeding and Iron deficiency anemia
Rectosigmoid: smaller, risk obstruction, altered bowel habits, nausea, vomit.
Pt with personality changes, desinhibition and irritability. Think of injury in ___ cortex
Orbitofrontal
Pt with language, sensory and memory difficulties. Apathy, hyperorality, hypersexual and visual agnosia. Think of injury in ___ cortex
Temporal
Pt with motivation, organization, and planning problems. Think of injury in ___ cortex
Lateral prefrontal (executive function)
Atrial fib management long term
Rhythm control: Av node blockers (BB, CCB, Digoxin)
Heart rate control: cardioversion, antiarrythmics (flecainide, amiodarone) radiofreq ablation
Mastectomy and axillary lymph dissection has risk of injurying
Intercostobrachial nerve
Proteinuria in pregnancy occurs due to
Increase GFR
Inmmunoglobulin regions that interacts with phagocytic cells and antigenic epitopes respectively
-Constant regions of heavy chains
-Light chains (constant and variable)
Rifampin vs Isoniazid mec of action.
R: Inhibition of bacterial DNA-dependent RNA polymerase
I: Inhibition of mycolic acid synthesis
Nontyphoidal salmonella features
S. Enteritidis or Newport
Poultry/ eggs related
Gastroenteritis
Neutro mediated
Self-limited and rarely invasive
Typhoidal salmonella
S. Typhi or paratyphi
Typhoid fever
Progressive fever, macular rash (rose spots), GI bleeding, hepatosplenomegaly
Water/food contaminated
No neutro or phagocyte response
Extensive intracel replication
Trimethoprim is similar to ___ because they both ___
Methotrexate (used in humans and trime in bacteria)
Inhibit dihydrofolate reductase -> folic acid can’t convert to tetrahydrofolate
From under what ages children do not understand the finality of death
<6
Vaccine reactogenicity (adverse effects within hours) are due to
Innate immune resp (macrophages, monocytes and mast cells)
C. difficile main histopathological feature
Pseudomembrane formation (neutro predominant inflam infiltrate, fibrin, bacteria and necrotic epithelium)
Increased ICP signs with normal CT, think of
Cerebral venous HT
Hypokalemia in the context of cocaine-induced MI occurs de to
Beta adrenergic hyperactivity
Familial chylomicronemia sd type I key features
ApoC-2
High chylomicrons
Familial chylomicronemia sd type Il key features
Aprobar-100
High LDL
Familial chylomicronemia sd type I ll key features
ApoE
High chylomicrons and VLDL
Alzheimer’s progression is associated with ___ protein which takes part in___
Tau protein
Microtubule stabilization
Best initial tests and definitive dg test for Giant cell arteritis
C reactive Prot (CPR) and erythrocyte sedimentation rate (ESR) -> high -> temporal artery biopsy
How to differentiate leukemia reaction from chronic myeloid leukemia
High or normal leukocyte alkaline phosphatase in leukemoid rx
Interferon gamma is produced by ___ it activates __ and promotes
T cells and natural killers
Macrophages
Th1
5- alpha resultase blockers like Tamsulosin cause gynecomastia due to
Less DHT conversion -> testosterone accumulates -> converts to estrogen
Hypothermia shifts Hb curve to the __ meaning
Left
It increases its affinity for O2 (releases less)
Flyby ride and glimepiride are
Sulfonylureas
Liraglutide and exenatide are
GLP-1 agonists
Sitagliptin and sexagliptin are
DPP-4 inhibitors
Pt with migratory thrombophlebitis, suspect ___ most commonly of__
Cancer (adenocarcinoma)
Pancreas,colon and lung
Phosphoinositol system
GDP to GTP
Gq protein
Pip2->DAG-> Pip 3
Ca+2 release from previous step is major activator of protein kinase C
Type B Ao dissection vs Tyoe A
A: Ascending. Flap originates near Ao valve, Brachiocephalic trunk
B: descending. Flap forms near left subclavian artery
Depletion of substance P will cause
Pain relief
Tibial nerve function
Foot plantar flexion and eversion
Toe flexion
Attention deficit vs absence seizures
Attention deficit can be interrupted by verbal/tactile stimuli. Treat with methylphenidate
Precontemplation refers to
Pt doesn’t see the problem with his habits
Legionella is detected by
Urine antigen test
Silver stain on charcoal yeast
T
Lung capacity increased in COPD is ___
Functional residual capacity
Fundoplication can hurt ant and post vagal branches passing through esophageal hiatus. This can affect
Gastric emptying speed (slows it down)
Pt with yellow foul sputum and culture showing Fusobacterium and peptostreptococcus, how can this be explained?
Aspiration (OH, drugs, neuro disease-> loss of consciousness)
*these rods are normal mouth flora
Autism key features
-social interactions affected
-repetitive patterns of behavior/ fixation
-not necessarily affects language or intellectual capacity
Hydralazine, minoxidil effect
Direct relaxation of arteriolar smooth musc (vasodilatadors)
Activate RAA system (side effects)
Methylation induced gene siliencing occurs in which trinucleotide repeats disease?
Fragile x sd
Amphotericine main side effect
Nephrotoxicity
Which sts persists even after adding carbidopa
Anxiety and agitation
* it does help with nausea/vomit, tachyarrythmia and postural hypotension)
How does disease prevalence affect screening tests ?
The higher the prevalence, the lower the false positives (Higher positive predictive value)
After 1-2 weeks after a stroke, which cells will be affected
Glial cells
Amphotericine main side effect
Nephrotoxicity
Flecainide and propafenone are class ___ antiarrythmics which block___
IC
Phase 0 (strong Na+ channels inhibition)
X linked agammaglobulinemia features
Impaired B cell maturation
Recurrent sinopulm infections at 3-6 mo old
Chronic enteroviral infection
Small or absent lymphoid tissue (tonsils, adenoids)
Pt with tx trauma, shortness of breath, subcutaneous crepitus and chest x-ray showing peripheral lung marking. Think of
PneumoTx
Which health care financing has fixed predetermined monthly fee paid by the pt?
Capitation
Pulmonary fibrosis is treated with
Anti fibrotic agents that inhibit TGF-beta or other growth factors
*pirfenidone, nintedanib
Cervicitis by Chlamydia or Gonorrhoeae can lead to
Pelvic inflammatory disease
Ectopic pregnancy
Infertility
High altitude sickness features
Increased Erythrocytes: 1 2,3-BPG production (shifts Hb curve to the right), EPO, HCO3 excretion
Urinary incontinence in pregnancy is due to increased intraabdo pressure or ureteral/bladder compression?
Increased Intraabdo pressure
Urgency urinary incontinence mec
Detrusor muscle hyperactivity
CNS and heart start developing at week __
3
Which drug enhances K excretion in the collecting duct ?
Thiazides
Adalimumab is used to treat___ by blocking ___ however, diseas can relapse because
Crohn’s
TNF-a
It induces antidrug formation
Things to know about the locus coeruleus
Posterior rostral pons location
Pigmented
Near lat floor 4th ventricle
In charge of NE synthesis, mood control, arousal (reticular activ system), sleep-wake
Secundary syphilis features
RPR and VDRL (+) (non-treponemal)
Antibody to cardiolipin-cholesterol-lecithin antigen
Diffuse rash + lymphadenopathy
Treponemal syphilis tests
FTA-ABS and TP-EIA
A pt with chlamydia usually has __ too. Treat with __
Gonorrhoeae
Ceftriaxone and doxycycline
Common causes of Right-sided HF
Pulm circulation prob (PTH, embolism)
Right ventricle infarction
Anatomic defect causing increase mobility of testis, think of
Testicular torsion
PEEP helps with ARDS via
Increasing functional residual capacity
Leptospirosis features
Outdoor activities
• Abrupt-onset fever, rigors, myalgia, headache
• Nausea, vomiting, diarrhea
Complications:
Hepatic/renal injury
GH pathways
JAK-STAT
Severe arthritis in adult life blue-black spots on his sclerae and ear cartilage, think of
Alkaptonuria (homogentisic acid dioxygenase)
Renal events in DM by order
- GFR increases + glomerular hupertrophy
- Mesangial expansion, glomerular memb thickening, arteriolar hyalinosis, some albuminuria and HTN
3.mesangial nodules, a lot of proteinuria, nephrotic sd, low GFR
NB with loud snoring , difficulty breathing that improves in prone postition (tongue posteriorly displaced, u-shape cleft palate ) this is
Pierre Robin sequence
Common findings in osteoarthritis
fissuring, flaking, and erosion (fibrillation) of articular cartilage.
Increased metalloproteinase activity
Receptor activator nuclear factor Kappa B (RANK) is needed to form___ cells, overexpression of RANK will lead to
Osteoclasts
Increased bone resorption
Mineralization of the bone is only done by ___ (cells)
Osteoblasts
RANK-L is only on the surface of ___. When bind to RANK, It____ and when bind to osteoprotegerin, it___
Osteoblasts
Creates osteoclasts
It reduces osteoclasts formation
Dermatomes from:
Bellybutton
Medial thighs
Later thighs
T11
L3
L5
Reduced cortisol can lead to
Hypoglicemia
Anemia (EPO reduction
Eosinophilia (no cortisol suppression-> rebound)
PTT and PT normal values
25-40 PTT
11-15 PT
Why can CKD cause bruising?
Excess ammonia breakdown-> excess nitric oxide-> downreg of vWF secretion and less gpIIb/IIIa (platelet aggregation)
West Nile virus features
By mosquitoes
sRNA (+)
Southern US, Latam, Africa
Neuro sts: parkinsonian, confision, flaccid paralysis
Pt with suprasternal and intercostal retractions, inspiratory stridor, and a barking cough, think of
Croup/parainflueza/laryngotracheitis
*key difference from laryngitis is barking cough and way less severe symptoms
Delusional disorder vs schizophrenia or schizophreniform disorder
D: only delusions one or more for one month or more
S: delusions + hallucinations/disorganized speech/ neg sts for 6 or more months vs schizophreniform (same but for less than 6 months)
28 week NB with intermittent episodes of no respiratory effort for >20 sec but well appearing between episodes, think of
Apnea of prematurity due to underdeveloped central stimulatory neurons that trigger inspiration and expiration
Tumor cells metastasis mec
-Down-reg cadherins-> loose intercell junctions
-increase type lV collagenases-> degradate extracell matrix
-express CD44-> disseminate to lymph nodes
Drug adm differs in babies in comparison to adults because
They have decreased gastric pH, reduced intestinal motility, increased proportion of total body water
Small cell carcinoma of lung features
Central location
Markers: chromogranin, synaptophysin
Hyperchromic blue nuclei
Collagen type in blood vessels ___ . Associated to __ sd
Type III
Ehlers Danlos
Diseases associated to phases of collagen
I: no disease
ll: scurvy (Vit C needed for hydroxylation)
III: osteogenesis imperfecta (glycosylation - triple helix)
V: Ehlers Danlos. proteolisis
Vll: Menken sd (cross linking)
Copper diseases to know
Menkes: defective ATP7A (Absent copper) -> copper need for crosslinking of collagen
Wilson’s: defective ATP7B -> copper Buildup.
FISH (Fluorescence in situ
hybridization) used to detect
Microdeletion
Translocation
Duplication
*binds to specific genes
Pleiotropy
One gene contributes to multiple phenotypes
Ex. Phenylketonuria
Epistasis is
The allele of one gene affects the phenotypic expression of alleles in another gene
McCune- Albright syndrome
Manchas Café-au-lait unilat e irregular
1 endocrinopatia
Flow cytometry use
Assesses size, granularity and prot expression of INDIVIDUAL cells
Direct ELISA detects ___ vs indirect ELISA__
The antigen on the sample (enzyme binds to primary antigen)
The antibody on the sample (two antibodies, longer)
Prader-Willis vs Angelmanb
Uniparental disomy
Prader: mother gene is silenced/methylated. Father gene absent
Angel: father gene is methylated and mother gene is absent
