NBME 1 Block 3

1-b

2-c

Hirschsprung's disease, or congenital aganglionic megacolon, involves an enlargement of the colon, caused by bowel obstruction resulting from an aganglionic section of bowel (the normal enteric nerves are absent) that starts at the anus and progresses upwards.

Achlasia  - akele – only myenteric (auerbach’s) is lost                     

Hirschsprungs – both plexus lost.

3-d

Benign prostatic hyperplasia (BPH) also known as benign prostatic hypertrophy (technically a misnomer), benign enlargement of the prostate (BEP), and adenofibromyomatous hyperplasia, refers to the increase in size of the prostate in middle-aged and elderly men. Although prostate specific antigen levels may be elevated in these patients because of increased organ volume and inflammation due to urinary tract infections, BPH is not considered to be a premalignant lesion.

answer is glandular hyperplasia because of the difficulty in initiating urine and the firm prostate. If the prostate was hard and obstructive uropathy is NOT an early finding.

Early prostate cancer usually causes no symptoms. Sometimes, however, prostate cancer does cause symptoms, often similar to those of diseases such as benign prostatic hyperplasia. These include frequent urination, nocturia (increased urination at night), difficulty starting and maintaining a steady stream of urine, hematuria (blood in the urine), and dysuria (painful urination).  prostate cancer may also cause problems with sexual function and performance, such as difficulty achieving erection or painful ejaculation

4-c

when gallbladder contracts, sphincter Oddi relax... no gallbladder, no relaxing (inhibitory impulse to sphincter).. here in this vignette cause of biliary colic is spasm of sphincter of Oddi..
a and b leads to relaxation, not spasm.
d reflux can occur if oddi relaxed
e VIP relax sphincter

5-a

6-b

 Herpes zoster shingles ,– it is DsDNA

7-e

Secobarbital as other barbiturates has following withdrawal effects: mild depression of mood, increased anxiety, insomnia, psychotic symptoms (delusions and formication), disorientation, tremor, seizures, cardiovascular symptoms (tachycardia and hypertension).

.Secobarbital is phenobarbitone so sudden withdrawal leads to CARDIO VASCULAR COLLAPSE.[barbiturates have LOW safety margin]

A.B. Amphetamines and Cocaine have same withdrawal effects: significant depression of mood, irritability, strong psychological craving (peaking a few days after the last dose) they feel that they will die, but never die from this craving.
C. Heroin has following effects of withdrawal: depression of mood, anxiety, insomnia, sweating and fever, rhinorrhea, piloerection, yawning, stomach cramps and diarrhea, pupil dilation.
D. The withdrawal or rebound symptoms of methylphenidate can include psychosis, depression, irritability and a temporary worsening of the original ADHD symptoms.
 Secobarbital as other barbiturates has following withdrawal effects: mild depression of mood, increased anxiety, insomnia, psychotic symptoms (delusions and formication), disorientation, tremor, seizures, cardiovascular symptoms (tachycardia and hypertension).

8-d

Meckel’s diverticulum is a remant of the vitelline duct that persists thereby forming a blind pouch on the antimesenteric border of the ileum. This condition is often asymptomatic but occasionally becomes inflamed if it contains ectopic gastric, pancreatic or endometrial tissue which may produce ulceration.

9-b

. egophony + cough = consolidation                    

egophony and whispering pectroloque are the signs of consolidation

pneumothorax has increased resonance on percussion and decreased sounds on auscultation so b) consolidation is the correct answer.

10-a

Brain death is a legal definition of death that refers to the irreversible end of all brain activity including involuntary activity necessary to sustain life due to total necrosis of the cerebral neurons following loss of blood flow and oxygenation. Therefore, the brain is no longer capable of sustaining the rest of the body's systems without advanced life support

It should not be confused with a persistent vegetative state. The concept of brain death emerged in the 1960s, as the ability to resuscitate individuals and mechanically keep the heart and lungs functioning became prevalent.
A persistent vegetative state is a condition of patients with severe brain damage who were in a coma, but then progressed to a state of wakefulness without detectable awareness. It is a diagnosis of some uncertainty in that it deals with a syndrome. After four weeks in a Vegetative State (VS), the patient is classified as in a Persistent Vegetative State. This diagnosis is classified as a Permanent Vegetative State (PVS) after approximately 1 year of being in a Persistent Vegetative State.


11-c

ALDOSTERONE decreases,

Renin increases due to hypovolemia, decreased BP, decreased flow,

Bradykinin increases since its metabolism by ACE is inhibited

12-e

PRALIDOXIME helps in regenerating Acetyl choline Esterase enzyme, if given early, and is more specific treatment for Organophosphorus/carbamate poisinoning(indirect acting muscuranic antagonists) as in this case.

In general, atropine lowers the parasympathetic activity of all muscles and glands regulated by the parasympathetic nervous system. This occurs because atropine is a competitive antagonist of the muscarinic acetylcholine receptors

Pralidoxime or 2-PAM belongs to a family of compounds called oximes that bind to organophosphate-inactivated acetylcholinesterase. It is used to combat poisoning by organophosphates or acetylcholinesterase inhibitors (nerve agents), in conjunction with atropine and diazepam

Pilocarpine  is muscuranic agonist, used in GLAUCOMA
Gallamine is Muscuranic receptor blocker. Gallamine (Flaxedil) is a non-depolarising muscle relaxant.^[1] It acts by combining with the cholinergic receptor sites in muscle and competitively blocking the transmitter action of acetylcholine.^[2] Gallamine has a parasympatholytic effect on the cardiac vagus nerve which causes tachycardia and occasionally hypertension. Very high doses cause histamine release.Gallamine is commonly used to stabilize muscle contractions during surgical procedures
Hexamethonium and Mecamelamine are GANGLIONIC BLOCKERS

A ganglionic blocker (or ganglioplegic) is a type of medication that inhibits postganglionic transmission, primarily by acting as a nicotinic antagonist.^[2]

Because ganglionic blockers block the parasympathetic nervous system and sympathetic nervous system, the effect of these drugs depends upon the dominant tone in the organ system. ^[3]

Examples include hexamethonium, pentolinium, mecamylamine, trimetaphan

13-a

A band, maintains constant length

H , I, Z, M they change the length.

Z line = Actin.  The segment of muscle fible between two Z lines is SARCOMERE

I band is the zone surrounding the Z line, it is for isotopic contraction

A band is the area after I band from Z line, which represents ANISOTROPIC contracting zone, the length wont change during muscle contraction

M line is the middle of the sarcomere

H band is the paller area inside A band

14-e

Von Willebrand’s disease.  PTT prolonged ( due to decreased factor VIII),

 BT prolonged ( platelet adhesion defect due to deficient vVF )

Aggregation of platelets with ristocetin needs vVF, since vVF is absent aggregation doesn’t take place, so platelets wont form plugs, increased bleeding time

The ristocetin induced platelet aggregation (RIPA) is an in vitro assay for von Willebrand factor activity used to diagnose von Willebrand disease

Hemophilia A or B – intrinsic pathway defect – increased PTT but BT is normal

15-e

neurofibromatosis , image showing café-au-liat patches , coffee colored macules

16-c

Dressler’s snd

Autoimmune pericarditis

17-e

Tinea soleum

cysticercosis
A  Onchocerciasis (pronounced /ˈɒŋkɵsɜrˈsaɪ.əsɨs/ or /ˈɒŋkɵsɜrˈkaɪ.əsɨs/), also known as river blindness and Robles' Disease, is a parasitic disease caused by infection with the nematode Onchocerca volvulus. The parasite is transmitted to humans through the bite of a blackfly of the genus Simulium. Treatment -  ivermectin.

Sandfly is leishmania

Sandfly (or sand fly) is a colloquial name for any species or genus of flying, biting, blood-sucking Dipteran encountered in sandy areas

18-e

An initial step in the activation of innate immunity is the synthesis de novo of small polypeptides, called cytokines, that induce protean manifestations on most cell types, from immune effector cells to vascular smooth muscle and parenchymal cells. Several cytokines are induced, including tumor necrosis factor (TNF) and interleukins, especially IL-1. Both of these factors also help to keep infections localized, but, once the infection becomes systemic, the effects can also be detrimental. Circulating levels of IL-6 correlate well with the outcome. High levels of IL-6 are associated with mortality, but its role in pathogeneses is not clear. IL-8 is an important regulator of neutrophil function, synthesized and released in significant amounts during sepsis. IL-8 contributes to the lung injury and dysfunction of other organs. The chemokines (monocyte chemoattractant protein–1) orchestrate the migration of leukocytes during endotoxemia and sepsis. The other cytokines that have a supposed role in sepsis are IL-10, interferon-gamma, IL-12, macrophage migration inhibition factor, granulocyte colony-stimulating factor (G-CSF), and granulocyte macrophage colony-stimulating factor (GM-CSF).

19-d

20-b

we took care of it for the first pregnany by giving "PASSIVE Ati-RhoG Ig"(premade Ab) that grabed all the fetal RBCs which made it to mother circulation(at time of delivery) BEFORE they form the Rh-specific Memory B cells.
anti-RhoG IgG would last few weeks cz IgG half life is arroun 21 days or so,so choice C is not correct.

during second pregnancy Mother got perinetal exposure in her 3rd Trimester.and Intrauterine Transplacental hemorrhage is one of the causes of exposure.Exposure can also be caused by pregnancy loss or Invasive procedures e.g. Amniocentesis or Fetal blood sampling.

about Intrauterine Transplacental hemorrhage.. being a cause of exposure

21-b
Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II),^[1][2] is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the golgi apparatus). The golgi apparatus is unable to target the lysosomal protein (which is normal) to the lysosome. Without proper functioning of N-acetylglucosamine-1-phosphotransferase, a build up of substances occurs when enzymes are unable to travel inside of the lysosome. The enzymes are constitutively secreted outside of the cell instead. These substances or waste products, thought to include carbohydrates, lipids, and proteins, accumulate into masses known as inclusion bodies. When tissues are examined under a microscope, the detection of inclusion bodies often provides a diagnosis of the disease.

22-b

Nonsteroidal anti-inflammatory drugs (NSAIDs) are commonly used for arthritis pain. These include aspirin, ibuprofen (Motrin or Advil), naproxen (Aleve), and ketoprofen (Orudis).

23-g
The work of breathing at any given level of ventilation depends on the pattern of breathing. Large tidal volumes increase the elastic work of breathing, whereas rapid breathing frequencies increase the work against flow-resistive forces. During quiet breathing and during exercise, people tend to adjust tidal volume & breathing frequently at values that minimize the force & the work of breathing. Similar adjustments are seen in patients with pulmonary disorders: Patients with pulmonary fibrosis, which is characterized by increased elastic work of breathing, tend to breathe shallowly & rapidly; those with airway obstruction & increased nonelastic work of breathing usually breathe more deeply & slowly.

24-d

Peptidoglycan gives rigid support, protects against osmotic pressure.

25-e

The vagus nerve is both the sensory and motor innervation of the larynx. Sensory and motor nerve fibers reach the larynx by different courses, with the superior laryngeal nerve being sensory and the recurrent laryngeal nerve being motor. The recurrent laryngeal nerves take a long, circuitous route before reaching the larynx, with the left nerve passing all the way around the aortic arch. Mediastinal lesions (e.g., carcinoma of the esophagus, cancerous lymph nodes or aortic aneurysms) may be first evidenced by hoarseness due to paralysis of the left vocal cord. The same can be true on either side for malignancies in the neck, such as thyroid cancer, since both the left and right recurrent laryngeal nerves pass posterior to that gland to reach the larynx.

Loss of function of one or both recurrent laryngeal nerves causes "hoarseness". Persistent, painless hoarseness should alert the examiner to the possibility of unilateral or bilateral vocal cord weakness or paralysis.

Sensory nerve fibers to the larynx are derived from the internal branch of the superior laryngeal nerve, which ipsilaterally innervates the superior mucosal boundary of the larynx to the level of its true vocal cords. Likewise, below the true cords, ipsilateral sensation is mediated by each recurrent laryngeal nerve

Superior laryngeal (internal division)Supraglottic mucosa
                                                                   Thyroepiglottic joint
                                                                       Cricoarytenoid joint

Superior laryngeal (external division)Anterior subglottic mucosa
                                                                   Cricothyroid joint

Recurrent laryngeal                                Subglottic mucosa
                                                                   Muscle spindles

Spirals Nerve of Galen (communicating branch between superior and recurrent nerves)Aortic arch

The cough reflex has both sensory (afferent) and motor (efferent) pathways. The internal laryngeal nerve, a branch of the superior laryngeal nerve (CN X), carries the sensory information away from the area above the glottis in the larynx to the CNS via cranial nerve X (vagus). Stimulation of the cough receptors by dust or other foreign particles produces a cough, which is necessary to remove the foreign material from the respiratory tract before it reaches the lungs. The cough receptors, or rapidly adapting irritant receptors are located mainly on the posterior wall of the trachea, pharynx, and at the main carina, or branching points of the large airways. The receptors grow less numerous in the distal airways, and are absent beyond the respiratory bronchioles. Signals are first transmitted to the cough centres in the medulla, and then to the cerebral cortex (via the vagus nerve and superior laryngeal nerve). These are the afferent neural pathway. The efferent neural pathway then follows, with relevant signals transmitted back from the cerebral cortex and medulla via the vagus and superior laryngeal nerves to the glottis, external intercostals, diaphragm, and other major inspiratory and expiratory muscles.     http://en.wikipedia.org/wiki/Cough_reflex

now 25th eeee
cough reflex=
afferent -=by internal branch of superior laryngeal of X
efferent=by recurrent laryngeal nerve branch of X

Gag reflex-
afferent=sensory of glosopharyngeal IX
efferent=motor by X

corneal /conjuctival /blink reflex
affrent =ophthalmic branch of V nerve
efferent=motor branch of VII

pupilary reflex
afferent by -=optic nerve
efferent by - 3rd cranial nerve

jaw jerk
afferent by-mandibular sensory branch of V
efferent by-mandibulor motor branch of V

26-d

Steroids affect the bones in two ways.

Steroids contribute to increased osteoclast activity (bone break down)
and inhibit osteoblast formation (bone building). Secondly, steroids interfere with
the absorption of calcium in the small intestine.

The body needs calcium to function, so when it cannot absorb enough through the gastrointestinal system, the body seeks out calcium from the
bones where it is stored

27-e

Sheehan Syndrome: occurs in women who suffer a severe uterine hemorrhage during childbirth. The resulting blood loss may damage the pituitary gland and result in hypopituitarism

28-a
you should typically get a definition of a vague term before you proceed with tests

29-e

     Corynebacterium diphtheriae produces the toxin of diphtheria only when it is infected by the phage β. In this case, the gene that codes for the toxin is carried by the phage, not the bacteria.   http://en.wikipedia.org/wiki/Lysogenic_cycle

Lysogenic conversion In some interactions between lysogenic phages and bacteria, lysogenic conversion may occur. It is when a temperate phage induces a change in the phenotype of the bacteria infected that is not part of a usual phage cycle. Changes can often involve the external membrane of the cell by making it impervious to other phages or even by increasing the pathogenic capability of the bacteria for a host.

 Examples:

Corynebacterium diphtheriae produces the toxin of diphtheria only when it is infected by the phage β. In this case, the gene that codes for the toxin is carried by the phage, not the bacteria.

Vibrio cholerae is a non-toxic strain that can become toxic, producing cholera toxin, when it is infected with the phage CTXφ.

Shigella dysenteriae, which produces dysentery has toxins that fall into two major groups, Stx1 and Stx2, whose genes are considered to be part of the genome of lambdoid prophages.

Streptococcus pyogenes, produce a pyrogenic exotoxin, obtained by lysogenic conversion, which causes fever and a scarlet-red rash, Scarlet Fever.

Extra genes present in prophage genomes which do not have a phage function but (may) act as fitness factors for the lysogen are termed "morons" (more DNA).[

bacterial toxins encoded in a lysogenic phage
Shiga A
Botulism
Cholera
Diptheria
E erythrogenic toxin of stre pyogenes

30-b

megaloblastic anaemia
mech-

folic acid - *---DHF ---*----THF ----1 C donor
* DHF REDUCTASE is needed here --

1 C donor is important for 1-thymidylic acid which further needed for DNA synthesis
Amino acid synthesis
purin synthesis=for again DNA and RNA synthesis

DHF reductase is inhibited by trimethoprim and methotrexate

31-b

answer is ‘b’ amitripyline because of the alpha blocking effects causes hypotension and reflex tachycardia

(Amitriptyline block alfa rec)

Orthostatic hypotension, also called "postural hypotension", is a common form of low blood pressure. It occurs after a change in body position, typically when a person stands up from either a seated or lying position. It is usually transient and represents a delay in the normal compensatory ability of the autonomic nervous system. It is commonly seen in hypovolemia and as a result of various medications. In addition to blood pressure-lowering medications, many psychiatric medications, in particular antidepressants, can have this side effect. Simple blood pressure and heart rate measurements while lying, seated, and standing (with a two-minute delay in between each position change) can confirm the presence of orthostatic hypotension. Orthostatic hypotension is indicated if there is a drop in 20 mmHg of systolic pressure (and a 10 mmHg drop in diastolic pressure in some facilities) and a 20 bpm increase in heart rate.

Amitriptyline acts primarily as a serotonin-norepinephrine reuptake inhibitor, with strong actions on the norepinephrine transporter, and moderate effects on the serotonin transporte. Amitriptyline inhibits sodium channels, L-type calcium channels, potassium channel blocker as well.

32-b

It has been suggested that physiological concentrations of ouabain promote cell growth and in some manner stimulate the Na+/K+-ATPase activity while the higher levels achieved during intravenous therapy or in pathophysiological disorders may inhibit the Na+/K+-ATPase.

antiport means opposite direction.. ex Na K ATPase means Na comes out and K come in..

Symport means same direction.. Na Glucose ATPase.. means both go in the same direction..

both r ex of active transport which uses ATP

Simple and facilitated both r ex of passive.. where facilitated require carrier protein for transport..

Ion Gated Ex Na channel .. It will open with action potential..

33-a

on x axis we have time and in children it took only 8 hrs and in adults 14 hrs so AA excretion is faster in children

Theophylline hepatic metabolism is faster in kids.

34-a

Corrosive toxicity: Iron is an extremely corrosive substance to the GI tract. It acts on the mucosal tissues and can manifest with nausea, vomiting, abdominal pain, hematemesis, and diarrhea; patients may become hypovolemic because of significant fluid and blood loss.
•Cellular toxicity: The absorption of excessive quantities of ingested iron results in systemic iron toxicity. Severe overdose causes impaired oxidative phosphorylation and mitochondrial dysfunction, which can result in cellular death. The liver is one of the organs most affected by iron toxicity, but other organs such as the heart, kidneys, lungs, and the hematologic systems also may be impaired.
•End result of corrosive and cellular toxicity is significant metabolic acidosis due to several factors.
◦Hypoperfusion due to significant volume loss, vasodilatation, and negative inotropic effect of iron will result in lactic acidosis.
◦Inhibition of oxidative phosphorylation will promote anaerobic metabolism

Rx -
supportive rx
desferroxime

35-d

36-d

37-b

   Diabetic nephropathy (nephropatia diabetica), also known as Kimmelstiel-Wilson syndrome, or nodular diabetic glomerulosclerosis^[1] and intercapillary glomerulonephritis, is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. It is characterized by nephrotic syndrome and diffuse glomerulosclerosis. It is due to longstanding diabetes mellitus, and is a prime indication for dialysis in many Western countries. 

38-b

i remember this by matching ACT (like ACTH hormone) to the GFR

A-Aldosterone---G-Glomerulosa
C-Cortisol--------F-Fasiculata
T-testosterone---R-Reticularis

this is adrenal gland
A capsule
B glomerulosa
C fasciculata
D reticularis
E medulla

39-d
Escherichia coli are the most numerous aerobic commensal inhabitants of the large intestine. Certain strains cause diarrhea, and all can cause infection when they invade sterile sites (eg, the urinary tract). Diagnosis is by standard culture techniques. Toxin assays may help identify the cause of diarrhea. Treatment with antibiotics is guided by susceptibility testing.

40-a

41-a
Lupus. Very specific, but 60-80% sensitive

42-d

Slipped strand mispairing

From Wikipedia, the free encyclopedia

Slipped strand mispairing (SSM) is a mutation process which occurs during DNA replication. It involves denaturation and displacement of the DNA strands, resulting in mispairing of the complementary bases. Slipped strand mispairing is one explanation for the origin and evolution of repetitive DNA sequences.Slipped Strand Mispairing has also been shown to function as a Phase variation mechanism in certain bacteria.

Self-acceleration

SSM events can result in either insertions or deletions. Insertions are thought to be self-accelerating: as repeats grow longer, the probability of subsequent mispairing events increases. Insertions can expand simple tandem repeats by one or more units. In long repeats, expansions may involve two or more units. For example, insertion of a single repeat unit in GAGAGA expands the sequence to GAGAGAGA, while insertion of two repeat units in [GA] would produce [GA] .

Concatemer: Multiple copies of a DNA sequence arranged end to end in tandem. Concatenate means to link together in a chain or in a series.

Transposable elements (TEs) are sequences of DNA that can move or transpose themselves to new positions within thegenome of a single cell. The mechanism of transposition can be either "copy and paste" or "cut and paste"

43-c

The right margin of the heart (right border of heart) is long, and is formed by the right atrium above and the right ventricle below.

·                     The atrial portion is rounded and almost vertical; it is situated behind the third, fourth, and fifth right costal cartilages about 1.25 cm. from the margin of the sternum.

·                     The ventricular portion, thin and sharp, is named the acute margin; it is nearly horizontal, and extends from the sternal end of the sixth right coastal cartilage to the apex of the heart.

44-c

45-d

NMDA receptors channels have:

1-Ligand-gated (that require co-activation by two ligands "Glutamate and Glysine")---Ca influx
2-Voltage-dependent
these receptors have Mg attached to them on the outside.
upon action potential the Mg egress (expell) and the channel opens and Ca WILL ENTER THE NEURON. so if a drug block the egress of Mg, it will prevent Ca entry.

In animal research, scientists found that during a stroke or other brain insult, some brain neurons die because of profound lack of oxygen, while other neurons die from resulting chemical reactions. In particular, oxygen deprivation triggers a buildup of an excitatory chemical neurotransmitter, called glutamate, which acts at NMDA receptors.

the action of NMDA receptors appears particularly important because they have the special ability to let large amounts of calcium, an important mediator of glutamate destruction, into neurons. Calcium entry starts a chain of biochemical reactions within the neuron that eventually leads to its death. Because of this "gatekeeper" role, NMDA receptors are important targets for developing therapies to reduce glutamate action

46-a

The infarct is due to atherosclerosis and macrophages will produce PDGF.

i have solved this question this way:
look at marked area of picture... there are a lot of collagen fibrils and fibroblasts (elongated, spindle shape cells, with elongated nuclei)...
from the given answer options only FIBROBLAST GROWTH FACTOR activate and recruit fibroblasts... so you even don't need to know that macrophages produce FGF

Fibroblast growth factors, or FGFs, are a family of growth factors involved in angiogenesis, wound healing, and embryonic development. The FGFs are heparin-binding proteins and interactions with cell-surface associated heparan sulfate proteoglycans have been shown to be essential for FGF signal transduction. FGFs are key players in the processes of proliferation and differentiation of wide variety of cells and tissues.

One important function of FGF1 and FGF2 is the promotion of endothelial cell proliferation and the physical organization of endothelial cells into tube-like structures. They thus promote angiogenesis, the growth of new blood vessels from the pre-existing vasculature. FGF1 and FGF2 are more potent angiogenic factors than vascular endothelial growth factor (VEGF) or platelet-derived growth factor (PDGF) however  

As well as stimulating blood vessel growth, FGFs are important players in wound healing. FGF1 and FGF2 stimulate angiogenesis and the proliferation of fibroblasts that give rise to granulation tissue, which fills up a wound space/cavity early in the wound healing process. FGF7 and FGF10 (also known as Keratinocyte Growth Factors KGF and KGF2, respectively) stimulate the repair of injured skin and mucosal tissues by stimulating the proliferation, migration and differentiation of epithelial cells, and they have direct chemotactic effects on tissue remodeling.

47-d

This is adenoma sebaceum in a pt w/ tuberous sclerosis (see image below from wikipedia; also http://www.dermis.net/dermisroot/en/42506/diagnose.htm).  75% of tuberous sclerosis patients that have seizures have abnormal intelligence.  Logically, if the patient had some degree of mental retardation, it would have been present starting first grade (and wouldn’t suddenly emerge around 10^th grade).

“At some point, seizures affect 80 percent of patients with tuberous sclerosis. The seizures usually start occurring before two years of age. Intelligence is normal in one fourth of patients with seizures, but nearly all mentally retarded patients have seizures. Seizures can usually be controlled with antiepileptic medications.” ( http://www.aafp.org/afp/20000201/703.html )

i) features: facial angiofibromas, seizures, mental retardation

ii) associated neoplasms: astrocytoma & cardiac rhabdomyoma

48-b

plasmin degrades fibrin

Plasmin is a serine protease that acts to dissolve fibrin blood clots. Apart from fibrinolysis, plasmin proteolyses proteins in various other systems: It activates collagenases, some mediators of the complement system and weakens the wall of the Graafian follicle (leading to ovulation). It cleaves fibrin, fibronectin, thrombospondin, laminin, and von Willebrand factor. Plasmin, like trypsin, belongs to the family of serine proteases.

Plasmin is released as a zymogen called plasminogen (PLG) from the liver into the circulation. Plasminogen is converted into active plasmin by a variety of enzymes, including tissue plasminogen activator (tPA), urokinase plasminogen activator (uPA), kallikrein, and factor XII (Hageman factor). Fibrin is a cofactor for plasminogen activation by tissue plasminogen activator. Urokinase plasminogen activator receptor (uPAR) is a cofactor for plasminogen activation by urokinase plasminogen activator. The conversion of plasminogen to plasmin involves the cleavage of the peptide bond between Arg-560 and Val-561.

49-c

– PTU used to treat hyperthyroidism, can cross placenta and the baby will be hypothyroid

"Propylthiouracil crosses the placenta and because adverse events may occur in the fetus following maternal use, it is classified as pregnancy category D. The rate of congenital defects does not appear to be increased with maternal propylthiouracil use; however, fetal thyroid function may be transiently suppressed. Untreated hyperthyroidism may also cause adverse events in the mother (eg, heart failure, miscarriage, preeclampsia, thyroid storm), fetus (eg, goiter, growth restriction, hypo/hyperthyroidism, still birth) and neonate (eg, hyper-/hypothyroidism, neuropsychologic damage). The thioamides are treatment of choice for hyperthyroidism during pregnancy. In order to prevent adverse events to the fetus, the lowest effective dose should be used in order to achieve maternal levels of T4 in the high euthyroid or low hyperthyroid range. Thyroid function should be monitored closely."

“The optimal iodine intake for pregnant women is uncertain. Markedly EXCESSIVE IODINE intake can lead to fetal hypothyroidism and GOITER, while maternal iodine deficiency during pregnancy can result in cretinism and mental retardation. Commonly used iodine supplements can have divergent effects on maternal and fetal thyroid function, and are more pronounced in areas of deficient iodine intake"

50-a

– Medial epi, think stupid nerve aka funny bone, aka ulnar nerve—of note: innervates all interossei and adductor pollicis.  ('DAB PAD', short for "Dorsal ABducts, Palmar ADducts".) Note: abductor pollicis innervated by recurrent branch of median nerve.