Misc facts Flashcards

(79 cards)

1
Q

HIDA scan in biliary atresia

A

Tc-99m diosgenin (DISIDA) and mebrofenin (BRIDA) have the highest hepatic extraction rate and shortest transit time of hepatobiliary radiotracers.

===
Cases of biliary atresia typically demonstrate relatively good hepatic uptake with no evidence of excretion into the bowel at 24 hours.
===

Pretreatment with phenobarbital (5 mg/kg/day for 5 days) to increase biliary secretion by stimulating hepatic enzymes is frequently helpful to minimise the possibility of a false-positive study in a patient with a patent biliary system but poor excretion.

Treatment and prognosis
It is important to diagnose biliary atresia early since a Kasai portoenterostomy done within the initial two months of life has a very good prognosis.

Management options include:

Kasai portoenterostomy: the surgery involves exposing the porta hepatis (the area of the liver from which bile should drain) by radical excision of all bile duct tissue up to the liver capsule and attaching a Roux-en-Y loop of jejunum to the exposed liver capsule above the bifurcation of the portal vein creating a portoenterostomy 7

liver transplantation

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2
Q

Causes of aqueduct stenosis

A

congenital

aqueductal webs or diaphragms
gliosis

extrinsic compression
- tectal plate glioma
- pineal tumour
- posterior fossa tumour
- cerebral vascular malformation

intrinsic
- infection: meningitis/ventriculitis
- subarachnoid haemorrhage
- idiopathic (called late-onset idiopathic aqueductal stenosis)

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3
Q

Multiple Sclerosis

Classification
Diagnostic criteria

A
  1. relapsing-remitting (RRMS)

most common (70% of cases)
patients exhibit periodic symptoms with complete recovery (early on)

  1. secondary progressive (SPMS)

approximately 85% of patients with relapsing-remitting MS eventually enter a secondary progressive phase

  1. primary progressive (PPMS)

uncommon (10% of cases)
defined by a progressive accumulation of disability for >12 months from disease onset, which can be determined prospectively or retrospectively
patients do not have remissions, with neurological deterioration being relentless
incorporates the previously described “progressive-relapsing” phenotype

  1. benign multiple sclerosis
    15-50% of cases
    defined as patients who remain functionally active for over 15 years, and thus is only a retrospective diagnosis

===================
Dissemination in space
===================
Dissemination in space requires ≥1 T2-hyperintense lesions (≥3 mm in long axis), symptomatic and/or asymptomatic, that are characteristic of multiple sclerosis in two or more of the four following locations

periventricular (≥1 lesion, unless the patient is over the age of 50 in which case it is advised to seek a higher number of lesions)
cortical or juxtacortical (≥1 lesion)
infratentorial (≥1 lesion)
spinal cord (≥1 lesion)
Notably, T2-hyperintense lesions of the optic nerve, such as those in a patient presenting with optic neuritis, cannot be used in fulfilling the 2017 revised McDonald criteria

==================
Dissemination in time
==================
Dissemination in time can be established in one of two ways :

a new T2-hyperintense or gadolinium-enhancing lesion when compared to a previous baseline MRI scan (irrespective of timing)

simultaneous presence of a gadolinium-enhancing lesion and a non-enhancing T2-hyperintense lesion on any one MRI scan

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4
Q

Ga-68 DOTATATE PET/CT

Other than neuroendocrine, what other tumors may be positive:

A

Medullary thyroid carcinoma
Meningiomas
Small cell lung carcinoma
Pituitary adenomas.

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5
Q

Spinal neurenteric cyst

Location and associations:

A

Location

The intraspinal cysts are usually intradural extramedullary (80-90%) and ventral in location. They most commonly occur in the thoracic region (~40%).

vertebral anomalies like Klippel-Feil syndrome, hemivertebra, butterfly vertebra, scoliosis, split cord and spina bifida

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6
Q

Gastrinoma

Location?
Associated syndromes?
% malignant?

A

LOCATION

90% located in the gastrinoma triangle

The triangle is formed by joining the following three points:
1) superiorly: confluence of the cystic and common bile ducts
2) inferiorly: junction of the second and third portions of the duodenum
3) medially: junction of the neck and body of the pancreas

Most gastrinomas are sporadic, although some are seen in the setting of multiple endocrine neoplasia type I (MEN I). In general, these present in young adults 1.

Gastrinomas occur in ~0.1% of patients with peptic ulcer disease.

Due to the physiological action of gastrin (>1000 pg/mL), resulting in excessive secretion of acid into the stomach, the initial manifestation is with peptic ulcer disease (PUD) with multiple recurrent and intractable ulcers, often in unusual locations. This constellation of findings due to a gastrinoma is known as Zollinger-Ellison syndrome.

insulinoma: 10% malignant
gastrinoma: 60% malignant
glucagonoma: 80% malignant
VIPoma: 75% malignant
somatostatinoma: 75% malignant
non-functional: 85-100% malignant

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7
Q

Lymphoid interstitial pneumonia

Describe radiological features:
Associations

A

IMAGING

  • subtype of interstitial lung disease
  • However, most of the patients are adults with a mean age of 52-56 years. If a child presents with lymphoid interstitial pneumonia, this can be indicative of AIDS.
  • ​in women of child-bearing age, LIP is usually associated with connective tissue disease, especially Sjögren syndrome

CT
features tend to be diffuse with mid to lower lobe predominance

thickening of bronchovascular bundles

interstitial thickening along lymph channels

small but variable-sized pulmonary nodules (can be centrilobular or subpleural, and are often ill-defined)

ground-glass changes

scattered thin-walled cysts: usually deep within the lung parenchyma, typically abut vessels (i.e. perivascular or subpleural), size range between 1-30 mm (useful for differentiation from lymphoma of the lung )

mediastinal lymphadenopathy

Sjögren syndrome: considered the most common lung pathology in these patients. Can occur in up to 25% of those with lymphoid interstitial pneumonia

AIDS: particularly if it occurs in the young

autoimmune thyroid disease

systemic lupus erythematosus (SLE)

Castleman disease

common variable immune deficiency

rheumatoid arthritis

pulmonary amyloidosis

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8
Q

Cystic lung disease differentiation

Lymphangioleiomyomatosis
Emphysema
Pulmonary Langerhans cell histiocytosis
Birt-Hogg-Dubé syndrome
LIP

A

===lymphangioleiomyomatosis (LAM)===
scattered distribution, i.e. no spared areas

absence of sub-pleural cysts along fissures

underlying TSC gene mutations occur in both TSC and
sporadic LAM (cysts develop in women during their child-bearing years)

+/- renal angiomyolipomas and other features related to either TSC or sLAM

===emphysema===

advanced emphysema can appear similar to advanced cystic lung disease in LAM

fibrosis may mimic cyst walls

emphysema distribution depends on aetiology

LAM will have typical cysts separated by normal parenchyma in the least affected areas

===lymphocytic interstitial pneumonitis (LIP)===

​in women of child-bearing age, LIP is usually associated with connective tissue disease, especially Sjögren syndrome

a smaller number of lower zone predominant perivascular cysts, some with internal soft-tissue may coexist with nodules, ground-glass opacity, tree-in-bud opacities, lymphoma or amyloid deposits

lung changes may pre-date typical serological abnormalities, delaying diagnosis

===pulmonary Langerhans cell histiocytosis===

upper zone predominant and bronchocentric cavitating nodules, branching or irregular cysts

spares costophrenic and costomediastinal angles

typically a disease of young adult smokers, especially men

===Birt-Hogg-Dubé syndrome===

fewer cysts with characteristic subpleural distribution and characteristic cyst shapes

autosomal dominant inheritance:

family history of pneumothorax or renal tumours

characteristic skin lesions

folliculin gene mutation

RCC

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9
Q

Modic endplate changes

A
  1. Modic type 1: represents bone marrow oedema and inflammation

T1: low signal
T2: high signal
T1 C+ (Gd): enhancement

  1. Modic type 2: represents normal red haemopoietic bone marrow conversion into yellow fatty marrow as a result of marrow ischaemia

T1: high signal
T2: iso to high signal

  1. Modic type 3: represents subchondral bony sclerosis

T1: low signal
T2: low signal

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10
Q

Caroli disease

?choledochoal cyst
Associations
Complications

A

Associations

Multifocal cystic dilatation of segmental intrahepatic bile ducts. However, some series show that extrahepatic duct involvement may exist.

They are also classified as a type V choledochal cyst, according to the Todani classification.

medullary sponge kidney

autosomal recessive polycystic kidney disease (ARPKD)

autosomal dominant polycystic kidney disease (exceptionally few cases exist)

  • simple type

intrahepatic stone formation
recurrent cholangitis that may lead to bacteraemia and sepsis

hepatic abscesses

  • periportal fibrosis type

cirrhosis and portal hypertension
hepatomegaly
ascites
varices

  • up to 100x increased risk of cholangiocarcinoma, which develops in ~10% (range 2.5–17.5%) of patients
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11
Q

Child-Pugh score

A

The Child-Pugh score is a scoring system to measure the severity of chronic liver disease inclusive of cirrhosis.

class A: 5-6 points
class B: 7-9 points
class C: 10-15 points

The score is composed from several categories:

total bilirubin, μmol/L (mg/dL)
<34: 1 point
34-50: 2 points
>50: 3 points
serum albumin, g/L
>35: 1 point
28-35: 2 points
<28: 3 points

INR
<1.7: 1 point
1.7-2.3: 2 points
>2.3: 3 points

presence of ascites
none: 1 point
mild: 2 points
moderate to severe: 3 points

presence of hepatic encephalopathy
none: 1 point
grades I-II (or suppressed with medication): 2 points
grades III-IV (or refractory): 3 points

If the patient has primary biliary cholangitis or sclerosing cholangitis then bilirubin is classified as:
<68: 1 point
68–170: 2 points
>170: 3 points

The MELD score (Model for End-stage Liver Disease) is a classification used to grade liver dysfunction in preparation for liver transplantation. The score has prognostic value in terms of three month mortality and certain complications.

The components of the score are:

serum creatinine (mg/dl): if dialysis twice in last week, then creatinine is given a value of 4 mg/dl
total bilirubin (mg/dl)
INR

> 15: may benefit from liver transplantation

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12
Q

UIP aetiology

A

UIP pattern of interstitial lung disease can be seen in idiopathic pulmonary fibrosis or secondary to underlying systemic diseases. These would include:

connective tissue disorders (CTD associated UIP): falls under the broader spectrum of connective tissue disorder interstitial lung disease (CTD-ILD)
- rheumatoid arthritis: UIP is considered to be the dominant pattern in those with rheumatoid arthritis who have concurrent interstitial lung disease
- systemic sclerosis (scleroderma): either a UIP or NSIP (more common) pattern
- polymyositis/dermatomyositis: a UIP, NSIP, or cryptogenic organising pneumonia pattern
- mixed connective tissue disease: either a UIP or NSIP pattern

asbestos-related interstitial lung disease: asbestosis

chronic hypersensitivity pneumonitis

radiation

medications/drug toxicity: amiodarone lung

ANCA associated vasculitides

Hermansky-Pudlak syndrome (very rare)

A key imaging differential on cross-sectional imaging would be:

non-specific interstitial pneumonia pattern (especially fibrotic non-specific interstitial pneumonia)
fibrotic hypersensitivity pneumonitis
hypersensitivity pneumonitis usually involves the mid and upper zones of the lung, and also the presence of centrilobular nodules and areas of air trapping are very useful hints to differentiate it from UIP

amiodarone lung fibrosis: helpful clues are the presence of hyperdense pulmonary nodules or hyperdense liver on a non-contrast CT

systemic sclerosis: presence of patulous oesophagus and correlation with hand radiographs if available can be helpful

asbestosis: bilateral pleural plaques with or without calcification or peritoneal calcification are helpful in diagnosis

combined pulmonary fibrosis and emphysema (CPFE): especially if there is added upper lobe-predominant emphysema

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13
Q

Bronchiectasis types

A

Subtypes
According to macroscopic morphology, three types have been described, which also represent a spectrum of severity

cylindrical bronchiectasis
bronchi have a uniform calibre, do not taper and have parallel walls (tram track sign and signet ring sign)
commonest form

varicose bronchiectasis
relatively uncommon
beaded appearances where dilated bronchi have interspersed sites of relative narrowing

cystic bronchiectasis
severe form with cyst-like bronchi that extend to the pleural surface
air-fluid levels are commonly present

According to one study, the relative prevalence of bronchiectatic changes were

cylindrical: ~ 47%
varicose: ~ 9.9%
cystic: ~ 45.1%
multiple types: ~ 24.3%

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14
Q

Ebsteins anamoly + associations

A

apical displacement of the septal and posterior leaflets of the tricuspid valve

as a rule of thumb: if the tricuspid septal attachment lies more than 1.5 cm “beneath” (i.e. towards the apex) than mitral septal attachment, this can be considered Ebstein anomaly (in adults, the measurement is 2 cm)

“atrialisation” of the right ventricle
tricuspid regurgitation

Association

chromosomal anomalies
trisomy 13
trisomy 21
Turner syndrome
multiple other congenital heart lesions (ASD is quite common)
conduction abnormalities leading to arrhythmia (common), e.g. Wolf-Parkinson-White syndrome
maternal lithium carbonate ingestion: possible

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15
Q

Choledochal cyst classification

A

type I: most common, accounting for 80-90% 1 (this type can present in utero)

Ia: dilatation of extrahepatic bile duct (entire)

Ib: dilatation of extrahepatic bile duct (focal segment)

Ic: dilatation of the common bile duct portion of extrahepatic bile duct

type II: true diverticulum from extrahepatic bile duct

type III: dilatation of extrahepatic bile duct within the duodenal wall (choledochocele)

type IV: next most common

IVa: cysts involving both intra and extrahepatic ducts

IVb: multiple dilatations/cysts of extrahepatic ducts only

type V: multiple dilatations/cysts of intrahepatic ducts only (Caroli disease)

type VI: dilatation of cystic duct

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16
Q

Ostenonecrosis eponymous names and locations

A

Friedrich disease is an eponymous name for osteonecrosis of the sternal end of the clavicle

Freiberg Infraction – avascular necrosis (AVN) of the head of the 2nd or 3rd metatarsal

Keinbock Disease – AVN of carpal lunate

Kohler Disease – (AKA Mueller-Weiss Syndrome) – AVN of tarsal navicular

Madelung Disease– AVN of distal radial epihysis

Osgood-Schlatter Disease – AVN of the tibial tubercle

Panner Disease – AVN of capitellum of the humerus

Perthe Disease – (Legg-Calve-Perthe Disease) – AVN of femoral head in a child; idiopathic AVN of the femoral head in adult = Chandler Disease

Scheuermann Disease – AVN of the ring epiphyses of the spine

Sindig-Larsen-Johanssen Disease – AVN of distal pole of patella

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17
Q

Pituitary infundibular thickening

A

Germinoma, lymphocytic hypophysitis and Langerhans cell histiocytosis in a child. In an adult, entities such as lymphoma, metastases, and sarcoid would be possibilities.

Hypothalamic hamartoma/tuber cinereum hamartoma is interposed between the infundibulum anteriorly and the mammillary bodies posteriorly

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18
Q

Lymphocytic hypophysitis

A

Lymphocytic hypophysitis is an uncommon non-neoplastic inflammatory condition that affects the pituitary gland. It is closely related to other inflammatory conditions in the region, namely orbital pseudotumour and Tolosa-Hunt syndrome.

Epidemiology
Lymphocytic hypophysitis is seen most frequently in women, with a F:M of ~9:1, and often in the postpartum period or the third trimester of pregnancy.

Associations
autoimmune conditions such as

autoimmune thyroiditis

pernicious anaemia

immune checkpoint inhibitors

more common with CTLA4 inhibitors (e.g. ipilimumab) than PD-1 or PD-L1 inhibitors

Clinical presentation
Clinical presentation is varied depending on the part of the pituitary affected and the size of the lesion. Lymphocytic hypophysitis can thus be classified as:

anterior pituitary: lymphocytic adenohypophysitis

most common

mimics a pituitary adenoma

endocrine hormone deficits are common, including hypopituitarism

mass effects on adjacent structures (e.g. optic chiasm)

posterior pituitary: lymphocytic infundibular neurohypophysitis

rare

diabetes insipidus

both anterior and posterior pituitary: lymphocytic infundibular panhypophysitis

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19
Q

Tolosa-Hunt syndrome

A

Tolosa-Hunt syndrome is an idiopathic inflammatory condition that involves the cavernous sinus and orbital apex and is essentially a clinical diagnosis of exclusion.

Epidemiology
The estimated incidence of Tolosa-Hunt syndrome is 1 per 1,000,000 person-years with an average age of onset at 41 years

Associations
inflammatory myofibroblastic tumour (IMT)

idiopathic hypertrophic pachymeningitis (IHP)

Clinical presentation
Clinically it refers to the presence of a painful ophthalmoplegia secondary to surrounding cavernous sinus inflammation. Tolosa-Hunt syndrome is essentially a clinical diagnosis of exclusion.

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20
Q

Pancreatitis classification

A

==fluid collections associated with interstitial oedematous pancreatitis (i.e. minimal or no necrosis)==

  • acute peripancreatic fluid collections (APFC): in the first 4 weeks: non-encapsulated peripancreatic fluid collections
  • pseudocysts: develop after 4 weeks; encapsulated peripancreatic or remote fluid collections

==fluid collections associated with necrotising pancreatitis==

  • acute necrotic collections (ANCs): in the first 4 weeks; non-encapsulated heterogeneous non-liquefied material
  • walled-off (pancreatic) necrosis (WON or WOPN): develop after 4 weeks; encapsulated heterogeneous non-liquefied material
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21
Q

Causes of pancreatitis

A

I: idiopathic

G: gallstones, genetic - cystic fibrosis

E: ethanol (alcohol)

T: trauma

S: steroids

M: mumps (and other infections)/malignancy

A: autoimmune

S: scorpion stings/spider bites

H: hyperlipidaemia/hypercalcaemia/hyperparathyroidism (metabolic disorders)

E: ERCP

D: drugs (tetracyclines, furosemide, azathioprine, thiazides and many others)

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22
Q

Pyriform aperture stenosis

Associations

A

alobar and semilobar forms of holoprosencephaly
facial haemangiomas
clinodactyly
pituitary dysfunction
central megaincisor (in 75% of cases)

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23
Q

Risk factors and associations for renal cell carcinoma

A

Risk factors
cigarette smoking
dialysis-related cystic disease
obesity
treatment with cyclophosphamide (chemotherapy agent)
hypertension
post-renal transplant

Associations

hereditary renal cell cancer syndromes including:

von Hippel-Lindau syndrome: greater tendency for bilateral renal cell carcinomas as well as a presentation at a younger age; clear cell subtype

tuberous sclerosis: renal cell carcinomas occur at a younger age

Birt-Hogg-Dubé syndrome: often bilateral; chromophobe subtype

sickle cell disease and particularly sickle cell trait: renal medullary carcinoma

Xp11.2 translocation​: subtype predominantly seen in young patients, comprises a third of paediatric renal cell carcinomas

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24
Q

Risk factors for bladder carcinoma

A

TCC
cyclophosphamide (a chemotherapy agent) increases the risk of bladder transitional cell carcinoma with a dose-response pattern

aromatic amines in tobacco smoke

arylamines used in rubber and plastic manufacturing

polycyclic aromatic hydrocarbons in industrial combustion processes (such as smeltin

SCC
antecedent infection with Schistosomiasis

chronic irritation, e.g. indwelling catheter, bladder calculi

chronic infection

intravesical BCG (Bacillus Calmette-Guerin)

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25
Disc herniation nomenclature
Central Subarticular Foraminal Extra foraminal Anterior
26
Trisomy ? is associated with ?dactyly, trisomy x with ?dactyly, triploidy with ?dactyly, and trisomy ? with ???. Additional hallmark anomalies of trisomy ? are ? and ?
Trisomy 13 is associated with polydactyly, trisomy 21 with clinodactyly, triploidy with syndactyly, and trisomy 18 with a clenched hand with overlapping fingers. Additional hallmark anomalies of trisomy 13 are holoprosencephaly and cleft lip/palate.
27
Parinaud syndrome
Parinaud syndrome is characterised by a classic triad of findings: upward gaze palsy, often manifesting as diplopia pupillary light-near dissociation (pupils respond to near stimuli, but not light) convergence-retraction nystagmus
28
Hepatoblastoma epidemiology
most common pediatric primary hepatic malignancy, peaking in incidence between 1-2 years of age with very rare cases occurring in the teenage population. While the tumor commonly occurs in isolation, predisposing syndromes include Beckwith-Wiedemann syndrome, hemihypertrophy, and Gardner syndrome among others. Hepatomegaly and/or palpable abdominal mass are the most common clinical presentations. Alpha-fetoprotein is elevated in the majority of cases. The purposes of imaging are to suggest the diagnosis, evaluate for local or distant tumor spread, and provide preoperative planning details, including segmental extent. Calcifications may be seen in 50% of cases.
29
Paediatric liver lesions
Hemangioendothelioma A single, large congenital hepatic mass with hypervascular periphery is characteristic of a focal infantile hepatic hemangioma, sometimes referred to as a hemangioendothelioma. Infantile hepatic hemangiomas may be single and large (often referred to as hemangioendotheliomas), multifocal, or diffuse. Depending on size and number, these lesions may be asymptomatic or result in varying degrees of heart failure (due to shunting), liver failure, hypothyroidism, or compartment syndrome. These lesions ultimately regress, similar to cutaneous infantile hemangiomas. However, symptoms may necessitate various therapies, including steroids, embolization, or transplantation. Despite a similar pattern of delayed centripetal enhancement, these lesions are distinct from adult cavernous “hemangiomas” of the liver. Kasabach-Merritt syndrome is not typically seen in these masses but is usually secondary to the rarer and distinct Kaposiform hemangioendothelioma. Mesenchymal hamartoma This congenital hepatic mass classically has large cystic components but may have variable degrees of enhancing stroma. Hepatoblastoma Hepatoblastoma is usually a solitary, well-defined, heterogeneous mass that may be multilobulated. It typically enhances less than normal liver. There are isolated reports of hepatoblastoma with peripheral enhancement and central, delayed filling. The incidence peaks at 1-2 years of age, and alpha-fetoprotein is usually elevated. Hepatocellular carcinoma (HCC) HCC is the most common primary pediatric hepatic malignancy beyond 5 years of age. The lesions may be hypervascular and associated with underlying liver parenchymal disease (unlike hepatoblastoma). Vascular invasion is common, and alpha-fetoprotein levels are usually elevated.
30
Rounded atelectasis
Rounded atelectasis occurs as a consequence of infolding of normal lung secondary to thickening of the adjacent pleura. Key features of rounded atelectasis include opacity (usually round or ovoid in shape) adjacent to pleural thickening with conspicuous volume loss. The comet tail sign describes the swirling of adjacent bronchovascular structures into the area of rounded atelectasis. While rounded atelectasis is commonly described as a sequel of asbestos-related pleural disease, any cause of chronic pleural effusion or thickening, such as after cardiac or thoracic surgery, empyema, hemothorax, or pleurodesis, can lead to the development of rounded atelectasis.
31
Nephrogenic systemic fibrosis (NSF)
Nephrogenic systemic fibrosis (NSF) is an acquired skin disease. The vast majority of patients had prior exposure to gadolinium in the setting of advanced chronic renal disease or acute kidney injury. At approved doses of gadolinium agents (most commonly 0.1 mmol/kg except for some liver specific and intravascular agents), NSF is of far greater concern than nephrotoxicity in renal failure patients. Although hemodialysis performed immediately after the gadolinium-enhanced MR image seems to reduce the chance of NSF, it does not always prevent it.
32
Paraneoplastic syndromes in lung cancer
==endocrine/metabolic== SIADH causing hyponatraemia: small-cell subtype ACTH secretion (Cushing syndrome): carcinoid and small-cell subtypes carcinoid syndrome gynaecomastia adrenal insufficiency (Addison disease): from bilateral metastases hyperparathyroidism: NSCLC can produce parathyroid hormone (extremely rare) hypocalcaemia: occurs in the setting of skeletal metastases; especially associated with NSCLC PTH-related peptide (PTHrp) causing hypercalcaemia: squamous cell carcinoma ==neurological== polyneuropathy myelopathy limbic encephalitis: particularly associated with SCLC 9 cerebellar degeneration Lambert-Eaton myasthenia syndrome ==other == finger clubbing hypertrophic pulmonary osteoarthropathy (HPOA): squamous cell carcinoma subtype nephrotic syndrome polymyositis dermatomyositis eosinophilia acanthosis nigricans thrombophlebitis: adenocarcinoma subtype Markers Several antibodies or markers from tissue samples may be useful in the diagnosis and prognostication of disease. These include programmed death-ligand 1 (PD-L1)-targeted monoclonal antibodies thyroid transcription factor 1 (TTF-1): expressed in most lung cancer except squamous cell cancer Genetics ROS1 mutation: 1-2% of NSCLC 15; more common in females 14 ALK mutation: 2-5% of NSCLC; more common in males, younger, light/never smokers, and more likely to be adenocarcinoma presenting with advanced disease 16 (see: main article)
33
Mesothelioma associations
Mesothelioma is an uncommon entity and accounts for 5-28% of all malignancies that involve the pleura. There is a strong association with exposure to asbestos fibres (~10% risk during lifetime; 40-80% of patients have a history of asbestos exposure) with risk associated with duration and breadth of exposure. Not all types of asbestos are strongly implicated, with crocidolite being the main causative fibre type. Not surprisingly, given the sources of asbestos exposure being predominantly mining, construction, lagging and machinery mechanics, 60-80% of cases are encountered in males, in general, 20 to 35 years after exposure. Some areas of the world have very regional hotspots (e.g. Belfast, Northern Ireland) due to the historic shipbuilding industry. There is also increased risk for those with household exposure (e.g. family of exposed workers). There has been no convincing evidence for an association with smoking.
34
Caplan syndrome
Caplan syndrome, also known as rheumatoid pneumoconiosis, is a rare variant of silicosis, coal worker pneumoconiosis, and other pneumoconiosis that is seen in patients with rheumatoid disease and lung involvement. It is characterized by large necrobiotic nodules superimposed on a background of multiple pulmonary nodules
35
Mounier-Kuhn syndrome
It is unclear whether Mounier-Kuhn syndrome is a distinct entity or whether it is simply tracheobronchomegaly in the setting of some underlying primary abnormalities. If the latter definition is used, associations include connective tissue disorders such as Ehlers-Danlos syndrome cutis laxa
36
Pyriform aperture stenosis associations
Pyriform aperture stenosis refers to narrowing of the pyriform aperture and results from early fusion and hypertrophy of the medial nasal processes. ASSOCIATIONS alobar and semilobar forms of holoprosencephaly facial haemangiomas clinodactyly pituitary dysfunction central megaincisor (in 75% of cases)
37
The diagnosis of chILD syndrome requires that the more common causes of DLD (diffuse lung disease) such as ??? have been excluded.
cystic fibrosis immunodeficiency syndromes congenital heart disease bronchopulmonary dysplasia pulmonary infection primary ciliary dyskinesia recurrent aspiration
38
Posttransplant lymphoproliferative disorder. Associated virus
The majority of cases (65%) are associated with Epstein–Barr virus (EBV) infection Treatment usually includes reduction of the immunosuppressive medication, in addition to rituximab, chemotherapy, and occasionally antiviral medication.
39
MAGIC DR
M - Metastasis A - Abscess G - Glioblastoma multiforme I - Infarct (subacute phase) C - Contusion D - Demyelinating disease (eg. tumefactive MS) R - Radiation necrosis
40
Weigert-Meyer rule
upper renal moiety ureter has ectopic insertion medial and inferior to the lower renal moiety ureter, and frequently ends in a ureterocele lower renal moiety ureter has orthotopic insertion lateral and superior to the upper renal moiety ureter, and vesicoureteral reflux can occur
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Gastric volvulus sub types
==================== Organo-axial volvulus ==================== more common of the two types in adults (2/3 of cases) commonly occurs in the setting of trauma or para-oesophageal hernia stomach is rotated along its long axis (along the cardiopyloric line, which is drawn between the cardia and the pylorus) mirror image of normal anatomy can occur with reversal of the greater and lesser curves:antrum rotates anterosuperiorly, fundus rotates posteroinferiorly complete (>180º) present with obstruction or ischaemia incomplete rotation (<180º) also called organo-axial position of the stomach, usually asymptomatic ==================== Mesentero-axial volvulus ==================== less common in adults, but is more common than organo-axial volvulus in the paediatric population (59% of gastric volvulus) rotation around short axis from the lesser to greater curvature (i.e. perpendicular to the cardiopyloric line) usually incomplete, <180° displacement of antrum above gastro-oesophageal junction; stomach appears upside-down with the antrum and pylorus superior to the fundus and proximal body coincides with the axis of mesenteric attachment and is associated with severe obstruction and strangulation less associated with diaphragmatic defect plain films may show an intrathoracic stomach with two air fluid levels 1
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Joubert anomaly
Also known as vermian aplasia or molar tooth midbrain-hindbrain malformation, is an autosomal recessive disorder where there is a variable degree of cerebellar vermal agenesis. ocular abnormalities coloboma retinal dysplasia: 50% (some authors advocate dividing Joubert syndrome patients into two groups according to the presence or absence of retinal dysplasia 5) nephronophthisis multicystic dysplastic kidneys (MCDK): 30% hepatic fibrosis: usually as part of COACH syndrome polydactyly: 15% occipital (meningo) encephalocele
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Septo-optic dysplasia risk factors? associations
Also known as de Morsier syndrome, is a condition characterised by optic nerve hypoplasia and absence of the septum pellucidum Two-thirds of patients have hypothalamic-pituitary dysfunction. It is best thought of as being part of the holoprosencephaly spectrum Risk factors ========== maternal diabetes medications: quinidine ingestion, antiseizure medications drug and alcohol abuse cytomegalovirus infection Associations ========== rhombencephalosynapsis Chiari II malformation aqueductal stenosis ==Clinical== Clinical presentation mostly dependent on whether or not it is associated with schizencephaly (~50% of cases). -not associated with schizencephaly- visual apparatus more severely affected hypothalamic-pituitary dysfunction present in 60-80% of patients may present as hypoglycaemia in the neonatal period small pituitary gland with hypoplastic or absent infundibulum and ectopic posterior pituitary olfactory bulbs may be absent (arhinencephaly) -associated with schizencephaly- optic apparatus less severely affected cortical anomalies: polymicrogyria, cortical dysplasia may be aetiologically different sometimes referred to as septo-optic dysplasia plus
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CADASIL
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Autosomal dominant microvasculopathy characterised by recurrent lacunar and subcortical white matter ischaemic strokes and vascular dementia in young and middle age patients without known vascular risk factors. Mutation on chromosome 19p13.12 involving the NOTCH3 gene ===== Although the subcortical white matter can be diffusely involved, in the initial course of the disease involvement of the anterior temporal lobe (86%) and external capsule (93%) are classical. There is relative sparing of the occipital and orbitofrontal subcortical white matter, subcortical U-fibres and cortex. Cerebral microhaemorrhages have been reported to occur in ~45% (range 25-70%) of cases without a characteristic distribution Eventually, cerebral atrophy ensues, which correlates well with the degree of cognitive decline.
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Autoimmune encephalitis ?differentiate with HSV encephalitis
Also known as autoimmune limbic encephalitis, is an antibody-mediated brain inflammatory process, typically involving the limbic system, although all parts of the brain can be involved. As the older term limbic encephalitis implies, the most common location of involvement is the mesial temporal lobes and limbic systems, typically manifested by cortical thickening and increased T2/FLAIR signal intensity of these regions. Bilateral involvement is most common (60%), although often asymmetric. The lateral temporal lobe and insula are less commonly involved, whereas the basal ganglia, in contrast, are frequently involved, helpful in distinguishing it from HSV encephalitis which characteristically spares the basal ganglia In addition to the aforementioned T2/FLAIR changes, patchy areas of enhancement can be seen post-gadolinium. True diffusion restriction (i.e. low ADC values) and haemorrhage are not common and suggest alternative diagnoses. The presence of haemorrhage on SWI, for example, favours other diagnoses such herpes simplex encephalitis.
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Diffuse midline glioma. Name the mutation.
H3 K27M-mutant
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Genetically defined oligodendrogliomas by the most recent World Health Organization (WHO) classification of brain tumors (2016) are:
Glial tumors that are IDH-mutant and present the 1p/19q codeletion
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Charcot-Marie-Tooth disease
Also known as hereditary motor and sensory neuropathy (HMSN), is the most commonly inherited neuropathy of lower motor (to a lesser degree sensory) neurones. Signs and symptoms usually become first evident in childhood. Typically, this starts in the lower limbs with weakness, atrophy and deformity, and later affects the upper limbs. It rarely involves the more proximal musculature or the cranial nerves. Sensory changes are present but usually to a lesser degree 5. Foot deformities are cavovarus (high-arch) and claw toe deformities. Patients can present with scoliosis. Classification is based on nerve-conduction studies and neuronal pathology divided into demyelinating and non-demyelinating forms The nerve roots are typically hypertrophic with the onion bulb sign. This represents hypertrophic demyelination. Denervation changes in muscles are apparent. example: Severe atrophy of all intrinsic (short) foot muscles, which have been replaced by fat tissue. Pes cavus and hammer toe deformities with twisting of the ankle. Arthropathy with bone oedema around the third tarsometatarsal joint. Normal postoperative scarring and susceptibility artifacts after Achilles tendon lengthening and transposition of the peroneus longus to the brevis tendon and the tibialis posterior tendon to the lateral os cuneiforme.
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PML
Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease which results from the reactivation of John Cunningham virus (JC virus) infecting oligodendrocytes in patients with compromised immune systems. Classically, PML occurred in patients with AIDS, typically developing in patients with CD4 counts of 50-100 cells/μL. The incidence of PML in the non-HIV setting is thought to be increasing: post-transplant: bone marrow or solid organ transplants leukaemia solid organ malignancies inflammatory diseases (e.g. SLE, sarcoidosis) isolated CD4 lymphocytopaenia immunosuppressive monoclonal antibody therapy, such as natalizumab (an IgG monoclonal antibody used in the treatment of relapsing-remitting multiple sclerosis), efalizumab, and rituximab
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McDonald diagnostic criteria for multiple sclerosis
Dissemination in space Dissemination in space requires ≥1 T2-hyperintense lesions (≥3 mm in long axis), symptomatic and/or asymptomatic, that are characteristic of multiple sclerosis in two or more of the four following locations: periventricular (≥1 lesion, unless the patient is over the age of 50 in which case it is advised to seek a higher number of lesions) cortical or juxtacortical (≥1 lesion) infratentorial (≥1 lesion) spinal cord (≥1 lesion) Notably, T2-hyperintense lesions of the optic nerve, such as those in a patient presenting with optic neuritis, cannot be used in fulfilling the 2017 revised McDonald criteria 5. ============================================== Dissemination in time a new T2-hyperintense or gadolinium-enhancing lesion when compared to a previous baseline MRI scan (irrespective of timing) simultaneous presence of a gadolinium-enhancing lesion and a non-enhancing T2-hyperintense lesion on any one MRI scan
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SATCHMO
Pituitary region masses S: sarcoid A: aneurysm T: teratoma or tuberculosis (and other granulomatous diseases) C: craniopharyngioma, cleft cyst (Rathke), chordoma H: hypothalamic glioma, hamartoma of tuber cinereum, histiocytosis M: meningioma, metastasis O: optic nerve glioma Some prefer adding an E at the end and moving 'histiocytosis' to this last letter as: E: eosinophilic granuloma or epidermoid/dermoid/teratoma
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Otosclerosis types
Primary osteodystrophy of the otic capsule (bony labyrinth of the inner ear). It is one of the leading causes of deafness in adults. Typically, patients present during their 4th and 5th decades. Otosclerosis most commonly presents with hearing loss, most often conductive, but can also be sensorineural or mixed, and is frequently bilateral ============ There are two subtypes: fenestral (stapedial): ~80% involves the oval window and the stapes footplate just anterior to the oval window, involving a small cleft known as the fissula ante fenestram hearing loss is often conductive, due to stapes thickening and fixation retrofenestral (cochlear): ~20% cochlear involvement with demineralisation of the cochlear capsule hearing loss is often sensorineural, but the mechanism by which this occurs is uncertain
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Turcot syndrome
Turcot syndrome is characterised by: intestinal polyposis CNS tumours: most commonly glioblastoma or medulloblastoma
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Transverse myelitis vs multiple scleroris vs cord infarct
* Transverse myelitis: Typically involves the central cord a ecting more than two-thirds of cross-sectional area of the cord. The lesion spans more than two vertebral body levels and causes smooth spinal cord expansion. Enhancement characteristics are variable, ranging from no enhancement to solitary and multifocal disease. It is more commonly seen when cord expansion is present and in the subacute stage. * Multiple sclerosis: Primary demyelinating disease of central nervous system with multiple lesions disseminated over time and space. Ninety percent of the time, concomitant intracranial lesions are seen. When isolated spinal cord disease is present, the cervical spine is most frequently a ected. In contrary to transverse myelitis, multiple sclerosis predominantly involves the peripheral dorsolateral aspect of the cord, spanning less than two vertebral body levels and less than half of the cross-sectional area of the cord. Lesions typically are oval with peripheral distribution. * Spinal cord infarction: Cord infarction secondary to vessel occlusion typically involves the anterior radicular artery (artery of Adamkiewicz) and, therefore, the anterior two- thirds of the distal half of the thoracic cord. This presents as hyperintense central gray matter within the cord on T2-weighted imaging (T2WI), giving an “owl’s eye” appearance and slight cord expansion in acute phase. Its onset is abrupt, with weakness more pronounced than loss of sensation and rapid progression to maximum de cit within hours.
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Lunate dislocation vs midcarpal vs perilunate
​Perilunate dislocation is a dislocation of the carpus relative to the lunate which remains in normal alignment with the distal radius. "Peri-" is a prefix meaning “about” or “around”, so a good way to remember it is as a dislocation around the lunate. These dislocations can have a fracture component in which the prefix "trans-" along with the fractured bone is used, for example a trans-scaphoid perilunate dislocation (around 60% of perilunate dislocations have an associated scaphoid fracture) Lunate dislocation is a dislocation of the lunate (alone). The lunate will tip forward and have the appearance of a tipped teacup. A midcarpal dislocation is a dislocation where neither the capitate or the lunate is aligned with the distal radius.
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Name 3 craniofacial syndromes
Crouzons Aperts Treacher Collins ==== Crouzons: abnormal calvarial shape: in severe case can give a "cloverleaf skull" shallow orbits with exophthalmos mid facial hypoplasia bifid uvula Associations Chiari I malformations 3: may be present in ~70% of cases ===== Apert syndrome was originally described as a triad of: craniosynostosis: brachycephaly syndactyly maxillary hypoplasia ===== Treacher Collins: dental and mandibular retrognathia micrognathia macrostomia hypoplasia or aplasia of the condylar and coronoid processes of the mandible marked bowing of the lower border of the mandible concave curvature of the horizontal ramus of the mandible is pathognomonic may be associated with cleft palate and absence of parotid glands zygomatic arch: malformed, underdeveloped or absent otic microtia and aplasia of the external auditory meatus hypoplasia of the middle ear cavity hypoplasia or aplasia of the middle ear ossicles nasal obliteration of the nasofrontal angle with narrow nares hypoplasia of the alar cartilages hypoplastic paranasal sinuses choanal atresia ocular downward slanting palpebral fissures, due to lack of support from zygoma absent eyelids of the lower inner third of the eye notched iris notched choroid and colobomas
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Linitis plastica
Gastric adenocarcinoma Metastases from breast (lobular ca) and lung Lymphoma
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Delayed gastric emptying on NM. Rapid emptying?
More than 10% at 4 hours = delayed gastric emptying Less than 30% at 1 hour = rapid emptying
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Supracapsular notch vs spinoglenoid notch will affect which muscles? Quadrilateral space impingement = which muscles? Borders?
compression of supracapsular nerve: Supracapsular notch = supra + infra spinatus atrophy Spinoglenoid notch = infraspinatus atrophy Quadrilateral space = compression of axillary nerve = teres minor atrophy Margins: teres minor superiorly teres major inferiorly triceps brachii long head medially medial wall of humerus laterally
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Bone lesions in the epiphyses
AIG Company ABC Infection Giant cell Chondroblastoma Clear Cell chondrosarcoma == epiphyseal equivalents = patella, carpals, calcaneus, apophyses (greater lesser troc)
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Differential for vertebral plana
MELT Metastasis Eosinophilic granuloma (LCH) Lymphoma TB
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Posterior element lucent lesion differential
Osteoblastoma ABC Met
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Hyperparathyroidism radiographic features?
Resorption of radial aspect of the 2nd and 3rd fingers Terminal tuft erosions Rugger Jersey spine Brown tumours Superior and inferior rib notching Wide SI joints Pelvis with narrowing of the femoral necks
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Hooked osteophytes of metacarpals and joint space loss?
Haemochromatosis - all fingers CPPD - fingers 2-3
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Ulnar deviation of 2-5th fingers?
SLE - reducible deformity of joints without articular erosions Jaccouds arthropathy - history is post rheumatic feverm
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Marchiafava-Bignami disease (MBD)
rare CNS disorder usually seen in the context of alcoholism and malnutrition. The condition classically involves necrosis and demyelination of the corpus callosum.
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Post chemo brain insult? Kids with ALL, methotrexate
PRES - spares occipital lobes and involves basal ganglia, brainstem and cerebellum Lueckocenphalopathy - t2 bright periventricular changes can progress to brain attophy
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Chasing the dragon
Herion inhalational leukoencephalotpahy T2 flair high symmetric centrum semiovale, post limb internal capsule and deep cerebellar white matter sparing the dentate
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Radiation induced brain changes
vasculopathy: stroke and moya moya type look basal ganglia and subcortical calcification capillary telangectasias / cavernous malformations Brain tumors: primary CNS lymphoma (most important risk factor is XRT), meningioma (~15yrs post), more aggressive gliomas sarcoma <10yrs
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Cortically based intra axial tumours
PDOG PXA - 10-20yo, enhances, dural tail, cyst within nodule, temporal lobe DNET - <20yo, no enhancement, bubbly, high t1 with bright FLAIR rim, temporal lobe Oligodendroglioma - 40s-50s, can enhance, calcification common, expands the cortex, frontal lobe, 1p-19q co deletion Ganglioglioma - any age, can enhance, not bubbly, can look like anything, mixed solid cystic, temporal lobe - classically 13yo with seizures, temporal lobe mass cystic and solid with focal calcifications with overlying bone remodelling
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Central neurocytoma Subependydoma
Central neurocytoma: Swiss cheese type appearance because of T2 cystic spaces. Calcification. Adult 20s-40s Subependymoma: adults. well circumscribed. found at foramen of munro and 4th ventricle. T2 bright. dont usually enhance
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Lhermitte Duclos associations?
Dysplastic cerebellar gangliocytoma tiger stripe mass within cerebellar hemisphere, occasionally crosses the vermis. it is a hamartoma associated with Cowden - associated with breast cancer
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Malignant salivary gland tumours
Mucoepidermoid carcinoma Adenoid cystic carcinoma perineural spread common, especially with adenoid cystic carcinoma. muco can too. melanoma is another one to know for perinueral spread
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Patient with Sjogrens and bilateral parotid masses with HIV
Lymphoma x1000 risk with Sjogrens NHL MALT type Benign lymphoepithelial disease with HIV - mixed solid and cyst lesion in diffusely enlarged parotid - painless
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Causes of pulmonary cavities?
C: cancer most frequently squamous cell lung cancer cavitary pulmonary metastasis(es): most frequently SCC A: autoimmune; granulomas from granulomatosis with polyangiitis rheumatoid arthritis (rheumatoid nodules) V: vascular both bland and septic pulmonary emboli I: infection (bacterial/fungal) pulmonary abscess pulmonary tuberculosis T: trauma - pneumatoceles Y: youth CPAM (congenital pulmonary airway malformation) pulmonary sequestration bronchogenic cyst
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Chromosomal abnormalities. Down syndrome, trisomy 18, trisomy 13
Sonographic abnormalities associated with trisomy 21 include an increased first trimester nuchal translucency (>3 mm) or second trimes- ter nuchal fold (>6 mm), ventriculomegaly, brachycephaly, flat facies, endocardial cushion defects, echogenic cardiac focus, hyperechoic bowel, duodenal atresia, pyelectasis, clinodactyly, hypoplasia of the fifth digit, short femur, and short humerus. The hallmark sonographic finding in trisomy 18 (Edward syndrome) is choroid plexus cysts. Other abnormalities cardiac defects, clubfeet, clenched fists with overlapping digits, facial defects, neural tube defects, radial ray abnormalities, and a two-vessel cord. As with other chromosomal abnormalities, a thickened nuchal translucency can be seen during first trimester imaging. Ultrasound findings in trisomy 13 (Patau syndrome) include holoprosencephaly, neural tube defects, cardiac anomalies, polydactyly, and enlarged hyperechoic kidneys. Turner syndrome is characterized by lymphatic malformations, to include a cervical cystic hygroma, aortic coarctation, cardiac defects, and renal abnormalities. Turners: cystic hygroma: may appear septated; one of the most typical features of Turner syndrome increased nuchal thickness increased nuchal translucency coarctation of the aorta: 15-20% bicuspid aortic valve (BAV) omphalocele horseshoe kidney / pelvic kidney mild IUGR features related to complicating hydrops fetalis short fetal limbs
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Normal marrow conversion
Peripheral to central in the body, for example phalanges inward The secondary ossification centers change from cartilaginous to ossified bone, then convert from red to yellow marrow within 6 months of secondary ossification center visibility on radiographs This is similar in the apophyses Marrow conversion progresses from central in the diaphysis to the distal metaphyses and subsequently to the proximal metaphyses. The proximal femoral and proximal humeral metaphyses can have residual red marrow normally into adulthood == The appendicular portion of the skeleton converts more quickly to yellow marrow compared to the axial skeleton.
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Upper zone pulmonary fibrosis
Sarcoid Pneumoconioses Fibrotic hypersensitivity pneumonitis Ankylosing spondylitis Post primary TB
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ILD DDx upper and lower predominant conditions
o Upper: Ankylosing spondylitis, Sarcoidosis, Pneumoconiosis, TB, Cystic Fibrosis, HSP, LCH o Lower: UIP (many causes including IPF, scleroderma, RA), NSIP (polymyositis, scleroderma), Drugs (methotrexate, nitrofurantoin, amiodarone), Asbestosis, LAM/LIP,