Discussion in 'DNB CET board - DipNB' started by samuel, Aug 22, 2014.

  1. samuel

    samuel New Member

    Overexpression of TAL1 transcription factor is a/w-----ACUTE LYMPHOBLASTIC LEUKEMIA.

    Most commonly disabled apoptotic pathway in carcinogenesis is----INTRINSIC PATHWAY

    • Most Common Mediastinal Tumors::
    • Most common Tumor/Mass---- Thymoma
    • Most common mediastinal germ cell tumor----Teratoma
    2.Middle Mediastinum:
    • Majority are Cysts ( most common--- bronchogenic cyst)
    3. Posterior Mediastinum:
    • Most common Tumor/Mass----- Neurogenic
    • Overall most common mediastinal mass------ Neurogenic > Thymoma.
  2. samuel

    samuel New Member

    -release of nuclear material from neutrophil forming extracellular traps.
    1) its an example of ----"BENEFICIAL SUICIDE"
    2) because neutrophil will be releasing its nuclei extracellularly to prevent spread of microbes by trapping them in their fibrils.
    In this process nuclei will be lost and causing death of neutrophil also (BENEFICIAL SUICIDE)
  3. samuel

    samuel New Member

    BLASTOMYCOSIS-(silver stain)--
    Rounded budding yeast with thick double contoured cell wall and visible nuclei ("not seen in other fungi")

    Speckled pattern of staining of nuclei----- seen in Antibodies reactive with Sm and RNP (ribonucleoprotein)

    Homogenous or Diffuse staining of nuclei----- seen in Antibodies reactive with dsDNA,Nucleosomes and Histones (common in SLE)

    HAIRY CELL LEUKEMIA---more than 90% of cases have activating point mutations in serine/threonine kinase BRAF.
  4. samuel

    samuel New Member

    Apoptosis Necrosis
    calcification... intracellular acumulation
    neoplasia ....genetic syndromes ....ring chromosome ....iso chromosome ..smoking... alcohol drinking. ...DIC....AIDS ....Amyloidosis....concepts of B and T lymphocyte .....and their mechanism function.......vasculitis....rheumatic heart disease....MI ...tumor.....All Aml Cll Cml.....Hodgkin and non hodgkin.....all red blood cell disorders....lung cancers.....IBD Maltoma colorectal ca..H Pylori.....Cirrhosis of liver....hepato cellular ca....Ca Pancreas...Nephrotic and nephritic .....Ca Renal...renal embolism....Ca Breast....Alz Parkinsonism....bone Ca...Addison Cushing Goiter Pheochromocytoma......MEN
  5. samuel

    samuel New Member

    MITOCHONDRIAL MYOPATHIES____(Robbins 9/e 1245)
    Ragged red fibre with increased reddish granular subsarcolemmal staining containing abnormal mitochondria.

    1) Most common soft tissue tumour of childhood and adolescence--- rhabdomyosarcoma ( embryonal type)
    2) Most common soft tissue tumour of adults-----lipoma
    3) mc malignant soft tissue tumour of adults ---- malignant fibrous histocytoma
    Most common site of SARCOMAS --- EXTREMITIES (lower> upper) >>>>>retroperitoneum

  6. samuel

    samuel New Member

    Sarcomas arise from skeletal muscle progenitors
    two most common forms are
    1) embryonal rhabdomyosarcoma (more common in younger children )
    botryoid variant of ERMS arises in mucosal cavities, such as the bladder, vagina, nasopharynx, and middle ear.
    Mc site –head and neck ( orbit)
    2) alveolar rhabdomyosarcoma. (more common in older children and teenagers)
    extremities are most common sites
    associated with t(2;13) or t(1;13).
    Overall . embryonal rhabdomyosarcoma is most common
    rhabdomyoblasts looks like--- round, strap, racquet, and spider forms.
    Rhabdomyoblasts shows muscle striations
    IHC :positive for intermediate filaments ---- desmin, vimentin, myoglobin, actin, myoD and myogenin
    all sarcomas follow HEMATOGENOUS route of metastases EXCEPT for alveolar rhabdomyosarcoma. ( which follows LYMPHATICS route)
  7. samuel

    samuel New Member

    rare malignant tumor
    most commonly occurs in long-standing cases of primary or secondary lymphedema.
    involves either the upper or lower lymphedemateous extremities( most common in upper extremities )
    lymphangiosarcoma is classically seen in upper extremity lymphedema occurring after mastectomy (Stewart-Treves syndrome
  8. samuel

    samuel New Member

    High yield info___(Robbins 9/e)
    1) HMB-45;
    2) S-100;
    3) Vimentin
    4) Mitf (microphthalmia transcription factor),
    5) Melan-A,
    6) Tyrosinase
  9. samuel

    samuel New Member

    3weeks to 3 months- yolk sac
    3 months to 5 months- liver(main),spleen, lymph nodes
    5 months - 20 years red bone marrow of all bones
    After 20 years - flat bones only.
  10. samuel

    samuel New Member

    epidermal hyperplasia with cells having ELLIPSOID CYTOPLASMIC INCLUSIONS (=Molluscum-Bodies) within stratum granulosum and stratum corneum.

    HALLMARK CELLS are cells with “horse-shoe like” or “Embryoid” nuclei seen in Anaplastic large cell lymphomas.

    ____ a/w HLA DQ-2 AND HLA-DQ-8.
    A) light microscopy------- SUBEPIDERMAL BLISTERS( neutrophilic microabscess in dermal pappilae)
  11. samuel

    samuel New Member

    Page no 886
    Hereditary pancreatitis
    Increase or sustained activity of trypsin
    Genes involved are PRSS1,SPINK1 and CFTR
    Most cases are due to gain-of-function mutations in the trypsinogen
    Gene(also known as PRSS1)

  12. samuel

    samuel New Member

    descriptive term for a lysosome containing broad transversely-stacked myelinoid membranes,
    its an ultrastructural finding typical of certain lysosomal storage diseases
    storage material accumulating in the lysosomes appears striped, hence the name “zebra bodies”.

    found in neurons, Schwann cells, macrophages, smooth muscle cells, endothelial cells, pericytes, glomerular epithelial cells, hepatocytes, and other cells.
    Zebra bodies classically occur in Fabry’s disease
    but are seen in Niemann-Pick disease, Landing’s disease, Sandhoff’s disease, mucopolysaccharidoses—e.g., Hurler syndrome—myelinopathy, phenylketonuria, and Tay-Sachs disease
  13. samuel

    samuel New Member

    CONGENITAL NEMALINE ROD MYOPATHY( electron MICROSCOPY) showing Z- band(=zebra bodies) ( made of actinin)

    Cord blood collection happens after the umbilical cord has been cut and is extracted from the fetal end of the cord, diverting up to 75 +/- 23 mL from the neonate. It is usually done within ten minutes of giving birth.

    After the unit is slowly cooled to −90°C, it can then be added to a liquid nitrogen tank which will keep the cord blood unit frozen at −196°C.

    cryopreservation strategies suggest using dimethyl sulfoxide (DMSO), slow or controlled rate cooling, and rapid thawing.
  14. samuel

    samuel New Member

    Scientists at Scotland's Heriot-Watt University developed a 3D printer that can produce clusters of living human embryonic stem cells, potentially allowing complete organs to be printed on demand in the future.

    Stimulus-triggered acquisition of pluripotency (also known as STAP) is a possible phenomenon capable of generating pluripotent stem cells by subjecting ordinary cells to certain types of stress, such as the application of a bacterial toxin, submersion in a weak acid, or physical squeezing.
  15. samuel

    samuel New Member

    1. Tumours of epithelial origin - cytokeratin
    2. Tumours of mesenchymal origin - vimentin
    3. Tumours of smooth muscle origin - smooth muscle actin, desmin
    4. Tumours of skeletal muscle origin - desmin
    5. Glial origin - GFAP
    6. Vascular origin - vWF, CD 31, factor viii, VEGF
    7. Stem cells - CD 34
    8. B cells - CD 19, 20, 21, 22
    9. Pan B cells - CD 19
    10. T cells - CD 1,2,3,5,7
    11. Pan T cells - CD 3
    12. NK cells - CD 16,56
    13. Reed sternberg cell - CD 15, 30
    14. Popcorn RS cell - CD 20, 45
    15. Mantle cell lymphoma - cyclin d1, CD 5
    16. Chronic lymphocytic leukaemia - CD 5, CD 23
    17. Hairy cell leukaemia - annexin a1, CD 25, 103, 11c
    18. Seminoma - PLAP, HCG
    19. Choricarcinoma - HCG
    20. Yolk sac tumour - AFP
    21. Sertoli cell tumour - inhibin
    22. Neuroendocrine tumour - NSE, synaptophysin, chromogranin
    23. Medullary carcinoma thyroid - calcitonin
    24. Ewing's sarcoma - CD 99, mic 2
    25. Malignant melanoma - HMB 45, S 100
    26. GIST - DOG 1, CD 117, CD 34
    27. Apoptotic cells - annexin v
  16. samuel

    samuel New Member

    Toker cells (clear cells basally located in the epidermis, identifiable in 10% of normal pages , but hyperplastic in 27% of these and atypical in 12%.

    Paget cells are usually positive for markers of breast epithelium differentiation like:

    Cytokeratin 7
    CAM 5.2
    Low-molecular-weight cytokeratins (negative for high-molecular-weight cytokeratins)
    Vast majority of cases show strong overexpression of the HER2/neu proteinion of the gene
    Positive for mucin
    18-20% of Paget’s cells express S100 protein but contrary to melanoma cells, HMB45 is consistently negative.
  17. samuel

    samuel New Member

    Palbociclib is an inhibitor of cyclin-dependent kinases (CDK) 4 and 6 and it inhibits cell proliferation and cellular DNA synthesis by preventing cell-cycle progression from G1 to S phase. In simple terms, it prevents cell division.

    Toker cells are immunophenotypically similar to Paget cells, sharing expression of cytokeratin 7 and CAM 5.2, absence of high-molecular-weight cytokeratin expression, and negative S100- and HMB45-expression. They differ in the negative expression of mucin, HER2/neu, and epithelial membrane antigen. The similarities between Toker and Paget cells have suggested that the former may represent the cell that undergoes malignant transformation in the initial phases of PD. Toker cells can be present in normal patients as well.

    The most accepted explanation for the development of PD is that Paget cells result from the migration of cells from the underlying adenocarcinoma through the epidermis, the so-called epidermotropic theory. This theory is supported by the existence of an underlying carcinoma in about 90% of cases of PD, which usually shares phenotypic similarities with Paget cells.
  18. samuel

    samuel New Member

    Mediastinal teratomas are the most common extra-gonadal germ cell tumours. They account for approximately 15% of anterior mediastinal masses in adults and approximately 25% of anterior mediastinal masses in children.

    Teratomas are germ cell tumours that arise from ectopic pluripotent stem cells that fail to migrate from yolk sac endoderm to the urogenital ridge during embryogenesis.

    Masaoka staging system is a staging system which is commonly adopted for thymomas and is the most important determinant of survival following surgical resection .

    stage I - intact thymic capsule
    stage II - capsular invasion into adjacent mediastinal fat or pleura.
    stage III - macroscopic invasion into adjacent organs, vessels
    stage IV -
    IVa - dissemination in thoracic cavity (i.e pleural or pericardial implants)
    IVb - distant metastases.
  19. samuel

    samuel New Member

    Soft tissue sarcomas occur with greater frequency in patients with the following inherited syndromes:
    Nevoid basal cell carcinoma syndrome (Gorlin syndrome: PTC gene mutation).
    Gardner syndrome (APC mutation).
    Li-Fraumeni syndrome (p53 mutation).
    Tuberous sclerosis (Bourneville disease: TSC1 or TSC2 mutation).
    von Recklinghausen disease (neurofibromatosis type 1: NF1 mutation).
    Werner syndrome (adult progeria: WRN mutation).
  20. samuel

    samuel New Member

    An inherited disorder of zinc metabolism, acrodermatitis enterohepatica, which is a chronic form of pure zinc deficiency, is characterized by diarrhea, skin rash, hair loss, muscle wasting, and mental irritability.

    Mesotheliomas are characterized by having long, narrow, branching microvilli with a length to width ratio of around 10-16:1.

    By contrast, adenocarcinomas have short, stubby microvilli with core rootlets.

    Electron microscopy can also be used to confirm the absence of features of adenocarcinoma, such as intracellular mucin and membrane-bound secretory granules. Zymogen vacuoles are not seen in mesothelioma and are useful indicator of adenocarcinoma.
  21. samuel

    samuel New Member

    Diamond-Blackfan syndrome is a rare congenital PRCA that is usually detected at birth, or later during the first 18 months of childhood. Affected individuals usually have a macrocytic anemia. The expression of hemoglobin F and surface “I” antigen in erythrocytes is increased, indicating erythrocyte immaturity.

    About one third of these patients have developmental defects, including cleft palates, macroglossia, craniofacial defects, thumb or upper limb abnormalities, cardiac defects, and urogenital malformations. Growth is often retarded. A modest increased risk for leukemia and neoplasms is noted.

    Diamond-Blackfan syndrome is currently thought to be due to the deletion of genes for ribosomal protein RPS19, which leads to defects in ribosome biogenesis.
  22. samuel

    samuel New Member

    Extracorporeal lithotripsy works best with stones between 4 mm and 20 mm (0.4 cm and 2.0 cm) in diameter .

    Cystine and brushite are the most ESWL-resistant
    stones followed in descending order by calcium
    oxalate monohydrate (COM), hydroxyapatite,
    struvite, calcium oxalate dihydrate (COD), and uric

    Urinary calculi can also be induced by medications when the drugs crystallize and become the primary component of the stones. In this case, urinary supersaturation of the agent may promote formation of the calculi. Drugs that induce calculi via this process include magnesium trisilicate; ciprofloxacin; sulfa medications; triamterene; indinavir; and ephedrine, alone or in combination with guaifenesin.

    Ciprofloxacin calculi are radiolucent on plain radiography and may be best delineated by contrast pyelography.

    1.5% of patients exposed to topiramate reported the occurrence of urinary calculi.

    Indinavir stones - (anti-retroviral drug) radiolucent and usually undetectable on CT
  23. samuel

    samuel New Member

    COMET TAIL SIGN..helps to distinguish between phelobith and ureter stone.... a tail of soft tissue extending from a calcification, representing the collapsed / scarred / thrombosed parent vein. [it favors phelobith]

    Fatty acid-binding protein, brain a/k/a
    Brain lipid-binding protein (=BLBP)/Brain-type fatty acid-binding protein(=B-FABP)/Fatty acid-binding protein 7/ Mammary-derived growth inhibitor related

    Seen on mature astrocytes...essential for with potential morphogenic activity during CNS development. It is required for the establishment of the radial glial fiber system in developing brain, a system that is necessary for the migration of immature neurons to establish cortical layers
  24. samuel

    samuel New Member


    Frequency of gene mutation in colorectal carcinogenesis
    i) K-RAS – 40 %
    ii) APC- >70%
    iii) Mismatch repair – 15%
    iv) B- catemin →2to 5%

    Stage I- Rcc confined to kidney
    II- extend through renal capsule but confined to Gerota’s fascia
    III- Renal vein / IVC involved
    IV- Tumor spread to local , adjacent organs or distant sites
  25. samuel

    samuel New Member

    Soft tissue sarcomas are malignant tumors that arise in any of the mesodermal tissues of the extremities (50%), trunk and retroperitoneum (40%), or head and neck (10%).

    Garland's triad (also known as the 1-2-3 sign or Pawnbrokers sign) is a lymph node enlargement pattern which has been described in sarcoidosis.

    It comprises of:

    right paratracheal nodes
    right hilar nodes
    left hilar nodes
  26. samuel

    samuel New Member

    S. japonicum
    causes katayama fever... liver fibrosis, liver cirrhosis, liver portal hypertension, splenomegaly, and ascites.

    parasite uses hosts' immune system (granulomas) for transportation of eggs into the gut. The eggs stimulate formation of granuloma around them. The granulomas, consisting of motile cells, carry the eggs to the intestinal lumen.

    Chronic infection can lead to characteristic Symmer's fibrosis (also known as "clay pipe stem" fibroses, these occur due to intrahepatic portal vein calcification which assume the shape of a clay pipe in cross section).

    S. japonicum mainly found in mesenteric or rectal veins.
  27. samuel

    samuel New Member

    Enzymatic markers of different membranes :
    Plasma : Adenyl cyclase, Na+ K+ ATPase
    ER : Glucose-6-phosphatase
    GOLGI APPARATUS : GlcNAc transferase I, Golgi mannosidase II, Galactosyl transferase, Sialyl transferase
    Inner mitochondrial membrane: ATP synthase

    Glucokinase is a cytosolic enzyme
  28. samuel

    samuel New Member

    Codman triangle may be seen in aggressive lesions lik::
    --juxtacortical chondrosarcoma
    ---ewings sarcoma
    ---gaint cell tumor
    -- sumtimes in scurvy due to subperiosteal hemorrhage
    --malignant fibrous histiocytoma
    ---active aneursymal bone cyst
  29. samuel

    samuel New Member

    Sherman's paradox is w.r.t to Fragile X syndrome, which doesnt follow normal XLR inheritance, here males can be carriers (due to premutations they have) these premutations get converted to full blown mutation in oogenesis of next generation daughters, thus chances of disease are more in grand children (40%), than in siblings(9%), this is a paradox because all recessive diseases should reduce with successive generation.
  30. samuel

    samuel New Member

    Important criterias

    1.Halls criteria : Downs syndrome

    2.Dukes criteria:
    Endocarditis/Heart failure

    3.Butchers criteria :mesothelioma

    4.Ann Arbours classifiacation :Hodgki.s lymphoma

    5.Bismuth classification: tumors of hepatic ductal

    6.Nazers Index: Wilsons disz

    7.Pagets Index : Abruptio placentae

    8.Quetlet index: BMI -wt in kg/ht in meter square

    9.Ponderial Index: ht in cm/cube root of body wt
    in kgs 10.Brocas index : Ht in cms-100

    11.Corpulence index : Actual wt/desired wt

    12.Milans crjteria: for liver transplant in HCC

    13.Mayers n cottons grading system: Subglottic

    14.Spaldings criteria: abdominal pregnancy

    15.GCS/Ransons criteria/APACHE score:
    Pancreatitis 16.Ennekings staging : Bone tumors

    17. Mc Donald's criteria: Multiple Sclerosis

    18.Epworths criteria : Sleep apnea

    19.Framminghams criteria/Boston's criteria: CHF

    20.Durie salmon system of staging: Multiple

    21.Lights criteria: pleural effusion
    criteria :COPD
    23.OKUDA staging : HCC 24.Child's
    Turcott pug score/MELD/PELD- Cirrhosis
  31. samuel

    samuel New Member

    Definations related to nephrotic syndrome Remission:Urine albumin nil or trace (or proteinuria of <4 mg/m2/h) for three consecutive early morning specimens.

    Relapse :Urine albumin 3+ or 4+ (or proteinuria >40 mg/m2/h) for three consecutive early morning specimens, having been in remission previously.

    Frequent relapses:Two or more relapses in initial 6 months or more than Three relapses in any 12 months.

    Steroid dependence:Two consecutive relapses while pt. is on alternate day steroids or within 14 days of discontinuation of steroid therapy.

    Steroid resistance:Absence of remission despite therapy with daily prednisolone at a dose of 2 mg/kg per day for 4 weeks.
  32. samuel

    samuel New Member

    Theories of Clubbing::
    1. Neurogenic: Vagal stimulation causes vasodilatation
    and clubbing
    2. Humoural: GH, PTH, oestrogen, PG, bradykinin cause
    vasodilatation and clubbing
    3. Ferritin: Decreased ferritin in systemic circulation
    causes dilatation of A-V anastomosis and hypertrophy
    of the terminal phalanx
    4. Hypoxia: Persistent hypoxia causes opening of deep
    A-V fistulae of the terminal phalanx
    5. Platelet derived growth factor: This factor which is
    released secondary to infection anywhere in the
    body, also causes vasodilatation and this is the latest
    and most acceptable theory for clubbing.
  33. samuel

    samuel New Member

    PHACE syndrome comprises of

    P: posterior fossa malformations
    H: haemangiomas
    A: arterial anomalies
    C: coarctation of the aorta and cardiac anomalies
    E: ocular anomalies
    When sternal clefting is also present it is termed PHACES syndrome.
  34. samuel

    samuel New Member

    PHACE syndrome comprises of

    P: posterior fossa malformations
    H: haemangiomas
    A: arterial anomalies
    C: coarctation of the aorta and cardiac anomalies
    E: ocular anomalies
    When sternal clefting is also present it is termed PHACES syndrome.
  35. samuel

    samuel New Member

    Ascending cholangitis
    Given that ascending cholangitis usually occurs in the setting of bile duct obstruction, various forms of medical imaging may be employed to identify the site and nature of this obstruction. The first investigation is usually ultrasound, as this is the most easily available.[1] Ultrasound may show dilation of the bile duct and identifies 38% of bile duct stones; it is relatively poor at identifying stones further down the bile duct. Ultrasound can help distinguish between cholangitis and cholecystitis (inflammation of the gallbladder), which has similar symptoms to cholangitis but appears differently on ultrasound.[7] A better test is magnetic resonance cholangiopancreatography (MRCP), which uses magnetic resonance imaging (MRI); this has a comparable sensitivity to ERCP.[7] Smaller stones, however, can still be missed on MRCP depending on the quality of the hospital's facilities.[1]

    The gold standard (best possible) test for biliary obstruction is still endoscopic retrograde cholangiopancreatography (ERCP). This involves the use of endoscopy (passing a tube through the mouth into the esophagus, stomach and thence to the duodenum) to pass a small cannula into the bile duct. At that point, radiocontrast is injected to opacify the duct, and X-rays are taken to get a visual impression of the biliary system.
  36. samuel

    samuel New Member

    Gama=gama-Aminobutyric acid (GABA) is the chief inhibitory neurotransmitter in the mammalian central nervous system. It plays a role in regulating neuronal excitability throughout the nervous system. In humans, GABA is also directly responsible for the regulation of muscle tone.[1] In insect species GABA acts only on excitatory nerve receptors.

    Although chemically it is an amino acid, GABA is rarely referred to as such in the scientific or medical communities, because the term "amino acid," used without a qualifier, refers to the alpha amino acids, which GABA is not, nor is it incorporated into proteins.

    In spastic diplegia in humans, GABA absorption becomes impaired by nerves damaged from the condition's upper motor neuron lesion, which leads to hypertonia of the muscles signaled by those nerves that can no longer absorb GABA.
  37. samuel

    samuel New Member

    Arthrotomy, Traumatic

    ■ Essentials of Diagnosis
    • Traumatic arthrotomy (opening into a joint) is more serious than
    a simple laceration
    • Because articular cartilage can be irreversibly damaged by bacteria,
    and the joint environment is limited in its ability to fight
    infection, treat all traumatic arthrotomies urgently
    • Usually occurs as an “outside-in” injury but can be “inside-out”
    (ie, from the bone piercing the skin)
    • Needles, knives, bullets, thorns, nails, and bites can be responsible,
    all with bacterial contamination
    • Commonly, the patient has a history of a puncture wound, bite,
    or laceration near a joint; alternatively, an open fracture into or
    adjacent to a joint
    • Compromise of joint sterility may be obvious
  38. samuel

    samuel New Member

    Treatment---Arthrotomy, Traumatic
    • The cornerstone of treatment is to ensure the joint is sterile; secondarily,
    necrotic tissue that may be a nidus for infection must be
    • Formal arthrotomy is standard treatment; traumatic arthrotomy
    may be used for debridement if it has occurred in a convenient
    place and allows adequate access to the joint
    • Use adequate irrigation to minimize bacterial burden; in more
    subtle arthrotomies, a standard incision or an arthroscopy may be
    used to debride the joint
    • Surfactants and antiseptics that are used in open fractures may not
    be suitable for care of hyaline cartilage contamination
    • If infection is subacute or chronic, include a thorough synovectomy
    in the surgical debridement
    ■ Pearl
    If uncertain whether a joint communicates with a laceration or open
    fracture, inject 50 cc of saline with methylene blue into the joint from
    an uninjured area. If dye appears at the laceration site, the sterility of
    the joint has been compromised.
  39. samuel

    samuel New Member

    Mechanism of action-Tetracycline

    Tetracyclines work by binding the 30S ribosomal subunit and through an interaction with 16S rRNA, they prevent the docking of amino-acylated tRNA. [1]

    Resistance to tetracyclines can arise through drug efflux, ribosomal protection proteins, 16S rRNA mutation, and drug inactivation through the action of a monooxygenase.[2]
  40. samuel

    samuel New Member

    Primary urothelial carcinoma of the upper tract is a rare urological disease and has a propensity for multifocality, local recurrence, and development of metastases. Almost 5% of all urothelial neoplasms occur in the kidney and ureters. The vast majority of upper tract tumors arise in the kidney, comprising 4% to 15% of all primary kidney neoplasms in the United States, whereas ureteral tumors represent only 1%. As a result, urothelial carcinoma of the bladder has been examined to a greater extent than urothelial tumors elsewhere.
  41. samuel

    samuel New Member

    The protein occurs in the plasma in 2 main isoforms, APOB48 and APOB100. The first is synthesized exclusively by the small intestine, the second by the liver. Both isoforms are coded by APOB and by a single mRNA transcript larger than 16 kb. APOB48 is generated when a stop codon (UAA) at residue 2153 is created by RNA editing. There appears to be a trans-acting tissue-specific splicing gene that determines which isoform is ultimately produced. Alternatively, there is some evidence that a cis-acting element several thousand bp upstream determines which isoform is produced.

    As a result of the RNA editing, APOB48 and APOB100 share a common N-terminal sequence, but APOB48 lacks APOB100's C-terminal LDL receptor binding region. In fact, APOB48 is so called because it constitutes 48% of the sequence for APOB100.

    APOB 48 is a unique protein to chylomicrons from the small intestine. After most of the lipids in the chylomicron have been digested, APOB48 returns to the liver as part of the chylomicron remnant, where it is endocytosed and degraded.
  42. samuel

    samuel New Member

    Arginine + aspartate + carbamoyl phosphate will produce:
    * Arginosuccinic acid

    Associated with Rb tumor suppressor:
    * Retinoblastoma, Osteosarcoma

    Associated with deletion of DPC:

    Associated with deletion of DCC:
    * DPC (Deleted in Pancreatic Cancer)

    DCC (Deleted in Colon Cancer)

    Cancers associated with a CEA tumor marker:
    * Pancreatic cancer and Colon cancer, sometimes also by gastric and breast cancers

    Associated with AFP tumor marker:
    * Yolk sac tumors and Hepatocellular carcinoma (HCC)

    Associated with CA-125 marker:
    * Ovarian, malignant epitheloid tumors

    Associated with TRAP (tartrate resistant acid phosphatase):
    * Hairy cell leukemia

    Associated with CA-19-9:
    * Pancreatic adenocarcinoma

    Markers associated with pancreatic cancers:
    * CA 19-9 and CEA

    Marfan sydrome affects:
    * Microfibrils/Myofibrils (d/t a defective fibrillin gene)

    Marfan's is an AD disorder

    A girl who can't break down sucrose has a deficiency of:
    * Fructokinase-1-PO4-Aldolase

    High EtOH consumption makes these end products instead of these normal products:
    * High NADH makes LACTATE and MALATE instead of pyruvate and oxaloacetate

    Labile cells never go to this phase of the cell cycle:
    * G0 (they divide rapidly with a short G1)

    RBC's use this process for energy:
    * Glycolysis (deficiency of PYRUVATE KINASE will lead to hemolytic anemia)

    Any problem with the Urea cycle think this amino acid:
    * Arginine (converts ammonia to urea for excretion)

    A pt (adult/kid) with arthritis sx and urine that turns BLACK on standing think:
    * Onchronosis (Alkaptonuria)

    Alkaptonuria is d/t accumulation of HOMEOGENTISIC ACID in the urine

    A kid with seizures, a severe hypoglycemia, and a hyperlipidemia think deficiency of:
    * Glucose-6-phosphatase deficiency (Von Gierkes disease)

    Glycogen storage disease

    Deficient enzymes in the type I, II, III, and type V glycogen storage diseases:
    * Very Poor Carb Metabolism (Von Gierkes, Pompes, Cori's, McArdles)

    is due to GLDS or (Glucose6P, Lysosomal alpha1/4, Debranching alpha 1/6, and Skeletal glycogen phosphorylase)
  43. samuel

    samuel New Member

    amyloid types:

    AA, ABeta, and AL?
    * AA = Kidney, Spleen, Liver (Secondary Amyloidosis)

    ABeta = Alzheimers (Dementia)

    AL = Heart/Kideny (Primary Amyloidosis) ATTR = cardiac

    Strenous activity lasting from a few seconds to a few minutes would use what fuel source?
    * Muscle glycogen

    What occurs in the golgi, RER, and smooth ER?
    * Golgi = packaging (like of man-6-P)

    RER = protein destined for lysosomes

    Smooth ER = Trig synthesis and protein destined for Peroxisomes

    Discuss pericentric and paracentric chromosomal inversion:
    * PERI-centric (Flipped over middle/Inverted chromosome) = Involve centromere and proceeds through miosis

    PARA-centric = doesn't inolve either

    A kid with radio-opaque staghorn calculi in the renal pelvis and a diagnostic positive NITROPRUSS CYANIDE test has:
    * CYSTINURIA (AR inheritance)

    Defective COLA (cysteine, ornithine, lysine, arginine) in the PCT of renals.

    Leads to Staghorn calculi

    Tx: Acetazolamide
  44. samuel

    samuel New Member

    Functions of the liver
    1. Largest gland of body – 1-2 kg
    2. Exocrine function -> bile
    3. Receives most absorbed nutrients via portal vein
    4. Functions in fat, carbohydrate, protein metabolism
    5. Stores glycogen
    6. Detoxifies
  45. samuel

    samuel New Member

    Injury may result in...
    1. Inflammation – acute, chronic inflammatory cells; granulomas
    2. Degeneration – swelling & edema of hepatocytes
    3. Necrosis - 2° to almost any insult – may be focal-> massive
    4. Regeneration – usually in all but most severe
    5. Fibrosis - 2° to inflammation or direct toxic insult
  46. samuel

    samuel New Member

    -bilirubin levels > 2-3 mg/dl
    -yellow skin and sclera

    -overproduction of bilirubin
    -defective hepatic bilirubin uptake
    -defective conjugation
    -defective excretion

    Unconjugated (Indirect) Bilirubinemia
    - inc RBC turnover
    - physiologic (newborn babies)
    - hereditary (gilbery and crigler-najjar syndromes)

    Conjugated (Direct) Bilirubinemia
    -Biliary tract obstruction
    -Biliary tract disease (PSC and PBC)
    -Hereditary (Dubin-Johnson and Rotor’s syndromes)
    -Liver disease (cirrhosis and hepatitis)

    major source of bilirubin:
    Increased RBC turnover
    RBCs are the major source of bilirubin
  47. samuel

    samuel New Member

    -Hemolytic anemia
    -Ineffective erythropoiesis (thalassemia, megaloblastic anemia, etc.)

    Lab: increased unconjugated bilirubin
    Chronic hemolytic anemia patients often develop pigmented bilirubinate gallstones

    Physiologic jaundice of the newborn
    Definition: transient unconjugated hyperbilirubinemia due to the immaturity of the liver

    Risk factors
    Hemolytic disease of the newborn (erythroblastosis fetalis)

    Complication: kernicterus
    Treatment: phototherapy
  48. samuel

    samuel New Member

    Gilbert’s syndrome
    Hereditary hyperbilirubinemias

    Gilbert’s syndrome:
    Common benign inherited disorder
    Unconjugated hyperbilirubinemia
    Jaundice is related to STRESS (fasting, infection, etc.)
    Mechanism: bilirubin glucuronosyltransferase (UGT) deficiency
    No clinical consequences

    Crigler-Najjar syndrome
    Hereditary hyperbilirubinemias
    Crigler-Najjar syndrome
    Unconjugated hyperbilirubinemia
    Type I: fatal because of kernicterus (**one of the only ones with clinical significance... all others are not harmful)
    Type II: jaundice
    Mechanism: bilirubin glucuronosyltransferase (UGT) absence or deficiency
  49. samuel

    samuel New Member

    Dubin-Johnson syndrome

    what do you see gross
    Hereditary hyperbilirubinemias (con’t.)
    Dubin-Johnson syndrome
    Benign autosomal recessive disorder
    Decreased bilirubin excretion due to a defect in the canalicular transport protein
    Conjugated hyperbilirubinemia
    Gross: black pigmentation of the liver
    No clinical consequences
  50. samuel

    samuel New Member

    Rotor’s syndrome
    Hereditary hyperbilirubinemias (con’t.)
    Rotor’s syndrome
    Autosomal recessive
    Conjugated hyperbilirubinemia
    Similar to Dubin-Johnson but WITHOUT liver pigmentation
    No clinical consequences

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