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Pt has polyps and antinuclear antibodies (ANA) ,conclude they have Cronkhite-Canada syndrome (CCS) what two clinical symptoms would you expect to see [1]___ and [2]_____ alopecia, and onychodystrophy (nail deformity)
hamartomatous polyps through out GIT (Small bowel, most) and mucocutaneous pigmentation in mouth, genitalia, palm, and peri-anal region. what two genes are involved ? STK11/LKB1* [Peutz-Jeghers Syndrome]
4yr old with 3-100 polyps. Rectal bleeding , conclude Juvenile Polyp. what two genes? SMAD4* and BMPR1A*
conclude pt has Cowden's syndrome due to polyps and Palmar keratoses , what other major clinical manifestation would they have? (a) Trichilemmomas on the nape of the neck of a subject with CS.
pt has polyps, pigmented macules on the glans of the penis, macrocephaly,PTEN mutations .. diagnosis? Bannayan–Riley–Ruvalcaba syndrome
pt has _____ polyps with “serrate” or “saw tooth” appearance, Left colon , NO malignant potential. Hyperplastic polyps
(75%), small / pedunculated (Low Ca risk. The MC neoplastic polyp Tubular adenomas
Familial Adenomatous Polyposis (FAP)/ Familial Polyposis Coli (FPC), Minimum 100 polyps, average ~1,000 polyps , pts with ____ mutations. most common on ____ side of colon. APC, left
as subtype syndrome of Familial Adenomatous Polyposis. In addition to intest polyps, osteomas of mandible / skull / long bones, desmoid tumors, epidermal cysts, thyroid Ca. Gardner’s Syndrome
as subtype syndrome of Familial Adenomatous Polyposis. AR. with CNS neoplasms, 2/3 medulloblastoma, 1/3 glioblastoma Turcot’ Syndrome:
Hereditary Non-Polyposis Colorectal Cancer (HNPCC) (Lynch Syndrome). _____/_______ gene mutations and mostly involves the ____ side of colon MSH2 / MLH1 gene mutations, Right colon
colon cancer, gene mutations from benign to malignant: normal epithelia---[_____]-->dysplastic--[___]-->Adenoma--{___]--->Carcinmoa--->metastatic APC-->KRAS-->P53
____is the MC site of metastasis for Colon Cancer Liver
___ is an Important serum tumor marker for Colon Cancer CEA
Metastatic colorectal carcinoma is positive for _____, CEA, ____, MUC1-3, B72.3 CK-20, CDX2
colon cancer with lymph node metastases present is in what Duke's stage? Duke's C
Low grade malignancy arising from epithelial stem cells[enterochromaffin/kulchitsky cells] in crypts, Most common in ileum . collar stud/button lesion. Moderate finely granular cytoplasm, small nucleoli, salt and pepper chromatin most with ____ gene MEN1
_____ is the MC tumor of appendix. Characteristic Yellow color appearance with dense core secretory granules. produces serotonin Carcinoid
pt has Flushing, sweating, bronchospasm, abd pain, diarrhea, cardiac valve fibrosis, there is a collar stud/button lesion.Nests or islands of neoplastic cells, stains (+) for _______ & _______ Synatophysin, Chromogranin A
Ileal carcinoid are stained positive for ______ CDX2
_____ stain is expressed in duodenal carcinoids PAX8 (paired box)
The most useful initial diagnostic test for carcinoid syndrome is to measure 24-hour urinary excretion of ____? 5-HIAA
MC "pro-lymphomatous" inflammation in stomach is chronic ________? H. pylori infection,
Gastric Lymphomas - MC Associated with what translocation________? Is assoc with resistance to H pylori treatment. t(11;18)
Gastric lymphomas stain [+] for ___/_____? CD19/CD20 (+).
tan-to-brown masses, associated with AIDS. can arise in the bowel there is abundant gut-associated lymphoid tissue. cells have prominent clumped chromatin and nucleoli with occasional mitotic figures Non-Hodgkin lymphoma
intra-abdominal metastases is so-called ______of small tumor nodules onto peritoneal surfaces. seeding
_____MC primary pathogen assoc with Acute Appendicitis E Coli:
Histologic criteria for dx of acute appendicitis: ______ ______ to the ____ wall. PMN(neutrophil) infiltration to the muscular wall
_____ of the appendix May occur simply by blockage of the lumen of the appendix with inspissated mucus (non-neoplastic) Mucocele of the Appendix
Extensive mucinous ascites with accumulation of jelly-like mucus in the pelvis or peritoneum. d/t peritoneal spread of a primary appendiceal mucinous cystadenocarcinoma Pseudomyxoma Peritonei
The MCC of bacterial peritonitis is _____of ______ ______ perforation of abdominal viscus
Spontaneous Bacterial Peritonitis: in the absence of obvious source of contamination. The MC setting in adults is [1]___[2]___[3]___ In children: _______. cirrhosis, portal HTN, ascites. , nephrotic synd
calculate the stool osmotic gap: the measured stool osmolarity is 400 osm, [K+] is 60, [Na+] is 40. =_______ stool osmotic gap= Measured stool osmolarity – 2 (stool [Na+] + [K+]). 400 - 2[(40)+(60)] = 200
In the duodenum ______ is digested and _____ is free to bind the intrinsic factor haptocorrin, cobalamin
Iron deficiency: _____secretion is suppressed, _____ is strongly expressed on the basolateral membrane --> iron absorption is maximal. hepcidin,, ferroportin
Absorption of calcium:Active form of Vitamin D regulates the amount of binding protein, activates the active transport systems in the _____, passive in the ___ and _____ (paracellular; more absorbed there. duodenum, jejunum and ileum
which one of these is most correct concerning bile? [A]Lipophilic drugs - secreted [B] Bile acids - excreted [C] Cholesterol - secreted [D]phospholipids - secreted [E] Bicarbonate - excreted [D]phospholipids - secreted
protein that is involved in Secretion of conjugated bilirubin, phase II conjugates with glutathione and xenobiotics into bile Multidrug Resistance associated Protein 2 (MRP-2)
Digestive period: bile acid Synthesis is ___, secretion is ____ low, high
Decreasing bile acid absorption →↓bile acid reaching the liver → less stimulation of ____ → ↑ bile acid synthesis (de novo) →↓ _____ FXR , cholesterol
liver has the synthetic function to synthesize serum _____, serum _____, and _____ _____. Serum albumin – half life ~ 20 days Serum globulins – g-globulins Clotting factors (blood coagulation – prothrombin time)
Hereditary condition?: > Complete lack of UGT1A1 activity > Colorless bile > Normal liver morphology > Serum unconjugated bilirubin levels very high > W/O transplant death from kernicterus within 18 months Crigler-Najjar syndrome type 1
Hereditary condition?: > Reduced UGT1A1 activity and only monogluconidation > Most develop normally although they do have yellow skin > There is still some danger of kernicterus in young infants > Administration of phenobarbitol ↑UGT1A1 activity Crigler-Najjar syndrome type 2
Gilbert syndrome The MC inherited cause of unconjugated hyperbilirubinemia. TA bases added to promoter region of ______gene expression. Some missense mutations The illness is precipitated by stress e.g. dehydration, fasting and resolves spontaneously UGT1A1
Hereditary Cause of Conjugated Hyperbilirubinemia: Dubin-Johnson syndrome. Mutation in ___ protein gene. Protein transports conjugated bilirubin out of hepatocyte and across canalicular membrane into bile. Liver pigmented with epinepherine metabolites the multidrug resistance protein 2 (MDR-2)
Hereditary Cause of Conjugated Hyperbilirubinemia: _____ syndrome > Multiple defects in uptake and excretion of bilirubin pigments > Innocuous and normal liver morphology > Patients do exhibit jaundice Rotor syndrome
In the gut, brush border _____ converts conjugated bilirubin to the unconjugated form for reabsorption. ______ is also present in breast milk β-glucuronidase
Cholestasis: Jaundice, Xanthomas, ____ ____ _____, pale stool Laboratory: elevated serum ____ _____ (in bile duct epithelium), bilirubin &, + - GGT dark color urine, alkaline phosphatase
Benign recurrent intrahepatic cholestasis (BRIC), progressive familial intrahepatic cholestasis 1 (PFIC 1), Byler syndrome/disease all have mutations in the _____ gene which is a canalicular ATPase ATP8B1
Familial (intrahepatic) Causes of Cholestasis: PFIC-2 - _____ gene, and PFIC-3 -_____ gene ABCB11 gene. ABCB4.
Primary Hepatolithiasis Results in recurrent _____ _____ ascending cholangitis
cholestasis hepatocytes are swollen and bile stained showing ______ ______ feathery degeneration
_____ _____ :Infants presents with jaundice, dark urine, light stool and hepatomegaly. One third of cases is caused by BILIARY ATRESIA Neonatal Cholestasis
___ ____ is the most frequent cause of death from liver disease in early childhood Biliary Atresia
the major differential diagnosis of biliary atresia is _____. neonatal giant cell hepatitis
[1]Bridging fibrous ,[2]Parenchmyal nodules, [3] Disruption of architecture. are Three Major Characteristics of this disease? Nodularity is requisite for the diagnosis…. Cirrhosis: End-stage Chronic Liver Disease
Obstructive thrombosis or Narrowing of the portal vein before it enters liver Massive splenomegaly, are ____-___ causes:Portal Hypertension Pre-hepatic
3 Post-hepatic causes of Portal Hypertension [1],[2],[3] Severe right-sided heart failure Constrictive pericarditis Hepatic vein outflow obstruction/Budd Chiari syndr.
4 Major Clinical Consequences of Portal Hypertension: [1]Ascites [2]Formation of portosystemic shunts [3]Congestive splenomegaly [4]Hepatic encephalopathy
_____ refers to the collection of excess fluid in the peritoneal cavity.” Ascites
HEPATORENAL SYNDROME:Increase plasma concentration of _____ (due to failure of the liver to metabolize it) which stimulates renal arteriolar ____ resulting in renal hypoperfusion →↑renin-angiotensin-aldosterone system endothelin-1, constriction
HEPATORENAL SYNDROME: ↓circulating blood volume resulting from ↑circulating levels of ___ causing _____ in the splanchnic circulation and may be worsened by sequestration of fluid into the peritoneal cavity resulting in renal hypoperfusion. NO, vasodilation
Virus that does not cause chronic hepatitis or a carrier state and only rarely causes fulminant hepatitis. Single-stranded RNA picornavirus. Spreads easily person-to-person, fecal-oral route [food] Hepatitis A Virus (HAV)
Hepatitis B:Transmitted by blood and most other body fluids – “parenteral” -leading causes today in low prevalence region like US are ___ and _____ IV drug and unprotected sexual
After experiencing malaise and increasing icterus for 6 weeks, a 42yo M sees his physician. PE shows jaundice, no other findings. Serologic test results are negative for IgM anti-HAV and anti-HCV, and positive for HBsAg and IgM anti-HBc. outcome? (B) Complete recovery without sequelae is most probable
what is the only positive serological marker during the HBV 'window period'? HBVcAb
________, HBV-DNA, and DNA polymerase appear soon after HBsAg and signify active viral replication HBeAg,
Chronic Hepatitis B Infection shows ____ _____ appearance of hepatocytes Ground glass
pt has malaise worsened during the past year. now has mild scleral icterus. no ascites or splenomegaly. [+] for IgG anti-HCV & HCV RNA & neg for anti-HAV, HBsAg, ANA, & antiMTcAb. AST level is 88 U/L, ALT is 94 U/L. condition stable for months. see__? Piecemeal hepatocellular necrosis
IV drug user has been known to be infected with hepatitis B virus past 6 years and not ill. has had nausea, vomiting, and dark-colored urine for the past week. recent healed track marks in the right arm. asterixis.What is the most likely diagnosis? Superinfection of chronic HBV with HDV
Some cases of Malaria present with jaundice and even fulminant failure, Liver and spleen become enlarged. Kupffer cells and splenic MØ become stained with _____ ____ hemozoin pigment
____ _____Parasites invade MØ throughout system. Fever, hepatosplenomegaly, lymphadenopapathy, pancytopenia, & weight loss. Skin becomes hyperpigmented kala-azar (black fever) Visceral Leishmaniasis
Taenia solium causes ______ of the liver cysticercosis
Echinococcus granulosus causes ___ ____ of the liver Hydatid Disease
parasite that causes massive hepatic granulomas and “pipe stem” fibrosis. Granulomas have egg at center surrounded by mononuclear cells and eosinophils Schistosomiasis
Autoimmune Hepatitis 80% have associated high titers of various autoantibodies ____, _____, ______. ANA, SMA, LKM1
acetaminophen know to cause _____ _____ type of hepatic injury centrilobular necrosis
anabolic steroids and oral contraceptives are known to cause what type of hepatic injury? ____ Cholestasis
two drugs known to cause microvesicular fatty change [1] tetracycline and [2]salicyclates
Alcoholic Hepatitis: The hallmark is the presence of ____ surrounding necrotic _____ PMN’s , hepatocytes
Abnormal LFTs (↑GGT,AST, ALT AST:ALT >2) , Decreased B6 ,↑Prothrombin time and ↑bilirubin. indication of what disease? Alcoholic Liver Disease
______ and ______ are two similar diseases that have a lack of alcohol history, Asymptomatic with abnormal LFTs , AST/ALT usually moderately increased . Nonalcoholic Fatty Liver (NAFD) Nonalcoholic Steatohepatitis (NASH)
deposition of iron in the parenchymal cells, genetic hemochromatosis is an autosomal recessive disorder of metabolism associated with a _____ gene on chromosome ___. This gene controls tranferrin receptor and facilitates iron uptake HFE, 6.
patient has ;Hepatomegaly, abdominal pain, skin pigmentation (bronze) with Elevated serum iron > 180 µg/dL and Elevated ferritin > 300 in males. diagnosis? Primary Hemochromatosis
toxic levels of copper , (Kayser-Fleischer rings), Decreased ______ (<200 mg/L), Increased urinary copper (>100 µg/day) Positive rhodanine stain (brown) ceruloplasmin [Wilson's Disease]
pt has Wilsons Disease associate with mutations of ____ gene. ATP7B
X-linked recessive connective tissue disease caused by impaired copper absorption and transport due to defective protein coded by ATP7A gene. Leads to ↓activity of lysyl oxidase [copper is a necessary cofactor]. brittle hair, growth retardation. Menkes Disease
Leads to pulmonary emphysema and liver disease which through unknown mechanisms may progress to cirrhosis. Associated with ____ allele PiZZ [Alpha1-Antitrypsin Deficiency ]
In liver this disorder is characterized by round to PAS+ oval globular inclusions in hepatocytes, esp. periportal Alpha1-Antitrypsin Deficiency
there is lobular disarray with focal hepatocyte necrosis, giant cell transformation, cholestasis, portal mononuclear cell infiltrates, Kupffer cell hyperplasia, & extramedullary hematopoiesis. Neonatal "giant cell" Hepatitis
non-suppurative, granulomatous destruction of medium-sized bile ducts (“florid duct lesion”), Disease of middle-aged women Primary Biliary Cirrhosis
Results from prolonged obstruction of the biliary tree , cholestasis, then escape of bile, then inflammatory reaction to bile, then fibrosis Secondary Biliary Cirrhosis
Anti-_______Antibody + in Primary Biliary Cirrhosis mitochondrial
characterized by inflammation, obliterative fibrosis and segmental constriction of the intrahepatic and extrahepatic ducts. seen in association with inflammatory disease, particularly chronic ulcerative colitis. Primary Sclerosing Cholangitis
Primary Sclerosing Cholangitis can cause Periductal portal tract fibrosis which has the ___-____ appearance. “onion-skin”
a type of Bile Duct Hamartoma: Frequently multiple, white nodules, asymptomatic, may be found at autopsy, no connection to biliary system Von Meyenberg Complex
___ _____: Sinusoidal dilatation associated with anabolic steroids Peliosis hepatis
Impaired Blood Flow Out of the Liver(Hepatic Vein Obstruction) known as _____ ______ syndrome. Budd-Chiari syndrome
pregnant patient with ;Icterus,Ascites, Hepatomegaly, Splenomegaly, Ankle edema, Stasis ulcerations, Prominence of collateral veins. What pathologic finding is most likely to be present? Hepatic venous thrombosis[Budd-Chiari syndrome ]
Benign, usually asymptomatic nodule of the liver, occurring chiefly in women. Firm, well-circumscribed mass usually with a central stellate scar containing numerous small bile ducts and having vessels lined by Kupffer cells. Focal Nodular Hyperplasia (FNH)
Nodular Regenerative Hyperplasia(NRH) is Associated with development of ____ _____ . Diffuse process involving entire liver, Occurs in association with renal transplant and other solid organ transplants. portal hypertension
Benign neoplasm derived from hepatocytes. occurs almost exclusively (95%) in females of child-bearing age -prolonged use of oral contraceptive pills. males- use of anabolic steroids. non-specific abdominal discomfort, intraperitoneal hemorrhage Hepatic Adenoma
60-75% of Hepatocellular Carcinoma patients have increased levels of alpha-fetoprotein
One of the strongest associations in cancer etiology is that of hepatocellular carcinoma and ___ ____ hepatic cirrhosis.
Hepatocellular Carcinoma_____variant:single large, hard schirrhous tumor with fibrous band coursing through it.Composed of well-differentiated cells rich in mitochondria growing in nest and cords separated by parallel lamella of dense collagen bundles . Hepatocellular Carcinoma, Fibrolamellar variant
Arises from bile duct epithelium and resembles other adenocarcinomas, Endemic in areas where liver flukes such as Opistorchis/ Clonorchis species are endemic. Lethal tumor Cholangiocarcinoma
___ ____: most common malignancy of the liver Metastatic cancer
Metastatic cancer of the liver Can be from nearly any primary, but most common in adults are: lung, breast, ___, and _____ colon, pancreas
serological marker for Hepatitis A virus IgM anti-HAV
serological marker for Hepatitis B virus HBsAg
serological marker for Hepatitis C virus anti-HCV
Vaccine for ____ liver virus is not available Hep C
Hepatitis A Vaccination to people at risk. Travelers to highly endemic areas. Takes at least 2 weeks to be effective. Those leaving in < 2 wk should get ____+ _____(effective for 3 months vaccine + immunoglobulin
Hepatitis ___ Virus can be contracted by baby During delivery from infected mother (vertical transmission. These babies should be treated with _____ and vaccinated immediately. Hepatitis B Virus, HBIG
Main goal in autoimmune hepatitis is Suppression of _____ with ____ inflammation, Cortcosteroids
Main goal in HBV & HCV infection is Suppression of ___ ____ with ____ _____ viral replication , anti-viral drugs[Interferon ]
______ measured if serology confirms HBV and infection is severe. Anti HDV
tattoo artist ↑malaise and nausea for the past 2 weeks. icterus and mild RUQ tenderness. serum AST 79 U/L, ALT 85 U/L, malaise for the next year. biopsy shows minimal hepatocyte necrosis, mild steatosis, minimal portal bridging fibrosis. what virus? HCV
Biopsy shows damaged hepatocytes swollen with granular cytoplasm (balloon degeneration) or containing fibrillar protein in the cytoplasm (Mallory bodies/ hyaline bodies) Alcoholic Hepatitis
______: is the mainstay of treatment for Alcoholic Hepatitis Abstinence
Those with ______ cirrhosis have symptomatic complications related to cirrhosis (jaundice, ascites, variceal hemorrhage, or hepatic encephalopathy. decompensated
The Child-Turcotte-Pugh (CTP) scoring system is based on five parameters (serum bilirubin, serum albumin,______ , ascites, and grade of ______ prothrombin time, encephalopathy
Diagnosis of Alcoholic Cirrhosis:____ _____; helpful to distinguish; should be done after alcohol cessation for____ liver biopsy, 6 months
Anti B antiviral therapy ______, _______ lamivudine, telbivudine
Anti C antiviral therapy _______, _______ Pegylated interferon, ribavirin
Treatment of acute variceal hemorrhage: for gastric varices transjugular intrahepatic portosystemic shunt (TIPS)
Prevention of rebleeding after initial variceal hemorrhage: endoscopic variceal banding (EVL)
The most common causeof ascites is____ _____, related to cirrhosis (about 75%) portal hypertension
Treatment of mild Ascites_____ sodium[salt] restriction
Treatment of moderate Ascites [1] ___ + [2]_____ sodium[salt] restriction + diuretics
Treatment of severe or refractory ascites [1]___ or [2]_____ large volume paracentesis (LVP) or transjugular intrahepatic portosystemic shunt (TIPS)
Progressively increasing creatinine level in patients with large amount of ascites is diagnostic of ______ Hepatorenal syndrome (HRS)
patient was treated for acute variceal hemorrhage, what is this patient most likely to develop?_____ ____ transjugular intrahepatic portosystemic shunt (TIPS) →Hepatic Encephalopathy (HE)
Treatment of Hepatic Encephalopathy [1]___, [2]____ or [3]_____ Lactulose, neomycin, metronidazole
___ _____ of the gallbladder; the fundus is folded inward Phrygian cap
Well circumscribed nodule in fundus of gallbladder, may be associated with inversion of mucosa. Nodule composed of benign glands within hyperplastic smooth muscle Adenomyoma - Gallbladder
[1]female [2] fat [3] fertile [4] forty are 4 risk factors for _____. Cholelithiasis (Gallstones)
decreased urobilinogen excretion in urine and increased fecal bile acids →Pigment stones- Black (bilirubin calcium salts): What condition is most likely to be present in this subset of patients? Crohn disease
Native-American woman , calculi within the lumen of the gallbladder, Which of the following mechanisms is most likely to play the greatest role in development of this disease? Biliary hypersecretion of cholesterol
_____ of Gallbladder: Foamy macrophages in lamina propria – may form small mucosal polyps which may resemble calculi in Gallbladder Cholesterolosis
colicky right upper quadrant pain for the past 2 days. WBC count of 11,200/mm3 with 71% segmented neutrophils, 9% bands, 13% lymphocytes, and 7% monocytes. What is the most likely diagnosis? Acute Cholecystitis
Rokitansky-Aschoff sinuses - outpouchings of gallbladder mucosal epithelium through the wall. are associated with ____ ______ Chronic Cholecystitis
Chronic Cholecystitis: Hydrops of the gallbladder (clear intraluminal fluid) and may have appearance of ______ gallbladder Porcelain
stones within the bile ducts of the biliary tree Choledocholithiasis
bacterial infection of the bile ducts: E. coli, Klebsiella, Enterococcus, Enterobacter, Clostridium, Bacteroides Cholangitis
_______ tumor –an Extrahepatic Cholangiocarcinoma majority – located at junction of right and left hepatic ducts Klatskin
Most common malignancy of extrahepatic biliary tract Gallbladder Adenocarcinoma
pt w/ abdominal pain, jaundice over several weeks. RUQ pain, no abdominal distention. markedly thickened gallbladder wall. slightly enlarged gallbladder containing a fungating, firm, lobulated, tan mass. What finding is most likely assoc w/ this mass? Cholelithiasis [gallstones]
In addition to hypersaturation and nucleation, the next important factor in Gallstone formation is _____/____of Gallbladder. *hypomotility / poor drainage of G.B
Acute attack of Cholelithiasis (Gallstones) is often precipitated by ________. a large or a fatty meal!!!!!!!
Acute acalculous cholecystitis is thought to result from ____ and/or ______ and is common in _____ patients bile stasis, ischemia, diabetic
When gallbladder perforation is localized, it may be seen as pericholecystic fluid by ultrasound. ______formation is common. Abscess
Free perforation of gallbladder also can occur, releasing bile and inflammatory matter intraperitoneally, causing ______ peritonitis
_____formation leads to Gallstone ileus Fistula
Cholangitis- Charcot's triad [1]___ [2]___ [3]____ right upper quadrant pain, jaundice, and fever.
Cholangitis- Reynolds' pentad:[1]___ [2]___ [3]____ [4]___/___ , [5]___- [1] right upper quadrant pain, [2]jaundice, and [3]fever.[4] Hypotension / Shock , [5]Confusion
_______and nuclear medicine studies (HIDA) are the best imaging studies for the diagnosis of both cholecystitis and cholelithiasis. Ultrasound
porcelain gallbladder may be observed with Abdominal radiographs (KUB X-Ray)
For complications of cholecystitis and cholangitis you use a ______ Computed tomography scan [CT scan]
______is generally used to remove impacted common bile duct stones. ERCP
Duodenal or colonic obstruction or cholecystoenteric fistula may signal ______ ______ GallBladder carcinoma.
_______ is the imaging test of choice for making the diagnosis of GallBladder carcinoma. ultrasonogram[USG]
Trypsin ______ secreted by acini (SPINK1) inhibitor
Activation of zymogens only by ______ trypsin
Failure of fusion of fetal duct systems of dorsal and ventral pancreatic primordia. Most common congenital anomaly of pancreas (3-10%) Pancreas Divisum
Band-like ring of pancreatic tissue that encircles second portion of the duodenum. May cause duodenal obstruction. Annular Pancreas
Annular Pancreas associated with another congenital anomaly _____ Down syndrome
two major causes of Acute Pancreatitis alcohol , Gallstones
Chronic alcohol ingestion → secretion of protein-rich pancreatic fluid →deposition of ____ ____ ____ and obstruction of small pancreatic ducts. inspissated protein plugs
trypsinogen 1 gene mutations make trypsin resistant to self-inactivation or more prone to proteolytic activation PRSS1
Hereditary Pancreatitis gene ______: limit bicarbonate secretion, leading to inspissation of secreted fluids and duct obstruction CFTR
Hereditary Pancreatitis gene ______: serine peptidase inhibitor, Kazal-type 1 inhibitor of trypsin, loss-of-function mutations increase trypsin activity autosomal recessive SPINK1
Acute Pancreatitis Morphology: [1]Microvascular leak and edema,[2]___ ___ [3]Acute inflammation[4]Destruction of pancreatic parenchyma[5]Destruction of blood vessels and interstitial hemorrhage. Fat necrosis
Abdominal pain: constant intense referred to upper back and occasionally to left shoulder; varies from mild/uncomfortable to severe/incapacitating, Anorexia, nausea, vomiting, marked ↑amylase, ↑lipase, diagnosis? Acute Pancreatitis
IgG4-secreting plasma cells in pancreas May mimic the signs and symptoms of pancreatic carcinoma responds to steroid therapy. diagnosis? Autoimmune pancreatitis
Chronic Pancreatitis Pathogenesis: Fibrosis: fibrogenic factors predominate: ______ and _____→ activation and proliferation of periacinar myofibroblasts (pancreatic stellate cells), → deposition of collagen, fibrosis TGF-β and PDGF
in a patient with alcoholic chronic pancreatitis there are dilated ducts with inspissated _____ ductal ______. eosinophilic, concretions
Chronic Pancreatitis ______ seen on CT scan, radiography, ultrasonography Calcifications
Cyst in pancreas with a necrotic brown-black wall. , Cyst lacks epithelial lining, is lined by fibrous tissue and granulation tissue. Pancreatic Pseudocyst
Multicystic small 1 to 3 mm cysts, Usually in tail of the pancreas Glycogen-rich cuboidal cells, Inactivation of VHL tumor suppressor gene. diagnosis? Serous Cystadenoma
Mucinous Cystic:Tail of the pancreas, Painless, slow-growing mass,Large cystic cavities filled with thick tenacious mucin Lined by columnar cells, mucin-producing epithelium Dense ovarian-like stroma , Mutations in _____ oncogene and p53, RNF43 tumor KRAS
Intraductal Papillary Mucinous Neoplasm : Mucin-producing neoplasm that involves larger ducts, head of pancreas, 10% - 20% multifocal. Lack of dense ovarian-like stroma; involvement of a pancreatic duct. mutations in _____ and ____ genes GNAS and SMAD4
Solid-Pseudopapillary Neoplasm of pancreas: young women Large, well-circumscribed; low grade malignancy Hyperactivation of ____ signaling pathway due to acquired activating mutations of the ____ gene Wnt, CTNNB1
Peutz-Jeghers Syndrome - STK11 has an 130 fold increased risk for inherited predisposition to ____ cancer. Pancreatic
Progression model for development of pancreatic cancer. Postulated that telomere shortening, ____mutations occur early; inactivation of p16 at intermediate stage; inactivation of p53, SMAD4, and _____ tumor suppressor genes occur late. K-ras , BRCA2
CA19-9, CEA – useful for diagnosing? Adenocarcinoma of Pancreas
Courvoisier sign – 2P’s:______, ______ _____ with jaundice unlikely to be gallstones, more likely to be Adenocarcinoma of Pancreas Painless, Palpable gallbladder
Pancreatic Acinar Cell Carcinoma characterized by _____ ____ _____ subcutaneous fat necrosis
Pancreatoblastoma: Rare malignant neoplasm of pancreas, children aged 1 to 15 yrs , distinct microscopic appearance consisting of ______ admixed with _____ squamous islands, acinar cells
Acute Pancreatitis can lead to shock, ___, and ____. Acute respiratory distress syndrome (ARDS), acute renal tubular necrosis (ATN)
BUN >25mg/dL, Impaired mental status: GCS <15 Systemic Inflammatory Response Syndrome[SIRS], Age >60 years, Pleural effusion. 3 or more of these parameters are diagnosed to have ___ ___ ___and should be treated in ICU with hemodynamic monitoring Severe Acute Pancreatitis
____ in adults, and ____ in children, are the most common causes of Chronic Pancreatitis Alcoholism, cystic fibrosis
Values <_____µg elastase/g stool indicate severe exocrine pancreatic insufficiency <100 
Values of 100-200 µg elastase/g stool suggest ______ pancreatic insuffiency mild to moderate
Values >____ µg elastase/g stool indicate normal exocrine pancreatic function > 200
Upper abdominal symptoms, in a recently diagnosed diabetic (especially age >50) with no F/H or obesity, suspect______ pancreatic cancer
Amniotic bands - frequent cause of ____. disruptions
-oligohydramnios -pulmonary hypoplasaia -flat face with low set ears -defects in extremities -renal failure Potter sequence
Less than _____g – Low Birth weight infant 2500g
Placental Fetal Growth Restriction FGR tends to cause ______ growth retardation with relative sparing of the head asymmetric
kid with 1. Growth retardation 2. Microcephaly 3. Atrial septal defects 4. Short palpebral fissures 5. Maxillary hypoplasia 6. Indistinct philtrum, Railroad track ears diagnosis ? Fetal Alcohol Spectrum Disorders
maternal____ use →Vasoconstriction can cause fetal hypoxia; spontaneous abortion; premature birth cocaine
___ causes 1/3 of all premature deliveries – occurs before week 37 Preterm Premature Rupture of Placental Membranes (PPROM
mother delivered baby by Cesarean delivery what is the baby at high risk for? Neonatal Respiratory Distress Syndrome (RDS)
Maternal diabetes mellitus insulin suppresses _____production leads to ____ in infant surfactant , Neonatal Respiratory Distress Syndrome (RDS)
infant with: Alternating atelectasis and dilation of alveoli hyaline membranes composed of fibrin and necrotic cell debris line alveoli (hyaline membrane disease former name) minimal inflammation Neonatal Respiratory Distress Syndrome (RDS)
infant with: hemorrhagic infarction, transmural necrosis, pneumatosis intestinalis , submucosal gas filled cysts diagnosis? Necrotizing Enterocolitis
Intraventricular Hemorrhage is a Common cause of ____ in premature infants, often occurs between 1-3 days of age. _____with IVH are associated with bulging fontanel, hemorrhagic spinal fluid, anemia, lethargy, and coma. seizures
infant with Classic triad – hydrocephalus, chorioretinitis, intracranial calcifications Congenital Toxoplasmosis
infant with Nasal discharge (snuffles) - first few weeks of life, Desquamating or bullous rash 1-2 wks later, Hepatomegaly and jaundice, Lymphadenopathy Congenital Syphilis - Early
Frontal bossing and saddle nose, Hutchinson teeth, Saber shins, Interstitial keratitis, Sensorineural hearing loss. Congenital Syphilis - Late
Parvovirus B19 is an Important cause of nonimmune ____ ________ fetal hydrops
Erythema infectiosum (“slapped cheek”) syndrome, Virus infects erythroid precursors in bone marrow Parvovirus B19
infant with: Patent Ductus Arteriosus, Cataracts, Deafness Congenital Rubella
infant with: Microcephaly, intracranial calcifications, Thrombocytopenia, petechiae, purpura Hepatosplenomegaly Congenital CMV
Serious fetal condition of severe edema (swelling) Defined as presence of excessive extra-cellular fluid in two or more sites: Pericardial effusion Pleural effusion Ascites Skin edema Fetal Hydrops
Antibody induced hemolytic disease in the newborn caused by blood group incompatibility between mother & fetus Rh & ABO blood group antigens, most common antigens Immune Hydrops
Accumulation of unconjugated bilirubin in the basal ganglia Level more than 20mg/dL is toxic for fetal neurons Kernicterus
Phenylketonuria (PKU): deficiency of ____ ____ → hyperphenylalaninemia, brain damage, mental retardation Phenylalanine hydroxylase
kid with Mental retardation; seizures; behavioral disorders, Fair skin and hair, Eczem, mousy Odor Phenylketonuria (PKU
Galactosemia: Deficiency of ________ (second step in conversion of galactose → glucose. Symptoms appear with milk ingestion: Galactose-1-phosphate uridyl transferase (GALT)
Widespread disorder in epithelial chloride transport affecting fluid secretion in exocrine glands epithelial lining of the respiratory, GI & reproductive tracts Abnormally viscid mucus secretions, Autosomal recessive Cystic Fibrosis (Mucoviscidosis)
specific CFTR gene Mutations: (I )Defective protein synthesis _____. (2) Abnormal protein folding, processing, trafficking _____. (3)Defective regulation _____ W1282X, ∆F508, G551D
Maternal _____ associated with increased risk of Sudden Infant Death Syndrome (SIDS) smoking during pregnancy
Benign tumor of blood vessels Most common tumor of infancy Usually on skin, especially face and scalp Regress spontaneously in many cases Hemangioma
_____ most common childhood teratoma Sacrococcygeal
Most common extracranial solid tumor of childhood; derived from sympathatic ganglia & adrenal medulla Large abdominal mass, Homer-Wright Pseudorosettesfever, weight loss, bluish subcutaneous metastases, Horner syndrome, Periorbital(raccoon eyes), Neuroblastoma
90% of Neuroblastoma tumors produce catecholamines but hypertension uncommon Urinary ______ and______  useful to confirm diagnosis and for monitoring of neuroblastoma vanillylmandelic acid (VMA), homovanillic acid (HVA)
Neuroblastoma Stage 4S (Special) Metastases limited to ___, ____, _____, good prognosis liver, skin, bone marrow
Neuroblastoma associated with Chromosome ___ deletion and amplification of ___ gene. 1p deletion, N-MYC amplification
(Wilms tumor (1/3) , Aniridia WAGR syndrome
(male pseudohermaphroditism, congenital mesangial sclerosis, Wilms tumor) - also↑ risk of gonadoblasoma – WT1 mutation Denys-Drash syndrome
(organomegaly, macroglossia, hemihypertrophy, omphalocele, adrenal cytomegaly – loss of imprinting or uniparental disomy 11p15.5 – “WT2 gene” ( Beckwith-Weidemann syndrome
Most common primary renal tumor of childhood, well circumscribed fleshy tan tumor,small blue cells, abortive tubules, glomeruli, fibromyxoid; also skeletal muscle Wilms tumor
Putative precursor lesions (preneoplastic) of Wilms tumor; seen in renal parenchyma adjacent to ≈ 25-40% of unilateral tumors and 100% of bilateral tumors Nephrogenic Rests
Complex glandular architecture and the presence of ___ ____ are features that distinguish Peutz-Jeghers polyps from juvenile polyps. smooth muscle
Patient has endocarditis and signs show they also have colonic adenocarcinoma. What bacteria is most likely involved? S. bovis S. bovis : Streptococcus bovis the MCC of endocarditis in pts w/ colonic adenocarcinoma
Lipid soluble (A, D, E, K) Require micelles All enter by diffusion except_____(carrier-mediated) Vitamin K1
Hepatic Encephalopathy: This is due to ______ resulting in impaired neuronal function and brain edema characterized by altered consciousness from confusion to coma, asterixis ( flapping tremor), hyperreflexia hyperammonemia
Created by: SabaMDJuan