Articles

Articles are a collaborative effort to provide a single canonical page on all topics relevant to the practice of radiology. As such, articles are written and edited by countless contributing members over a period of time. A global group of dedicated editors oversee accuracy, consulting with expert advisers, and constantly reviewing additions.

1,127 results found
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14-3-3 protein

14-3-3 protein is found in the cerebrospinal fluid (CSF), and is currently used to help identify patients with sporadic Creutzfeldt-Jakob disease (sCJD).  In diagnosing sCJD, the sensitivity of 14-3-3 protein is 92% and its specificity is 80% 1. A negative 14-3-3 assay may be helpful in reducin...
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1p19q codeletion

1p19q codeletion stands for the combined loss of the short arm chromosome 1 (i.e. 1p) and the long arm of chromosome 19 (19q) and is recognised as a genetic marker predictive of therapeutic response to both chemotherapy and combined chemoradiotherapy and overall longer survival in patients with ...
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2-hydroxyglutarate

2-hydroxyglutarate is a metabolite that accumulates in the brains of patients with IDH-1 mutated (IDH-1 positive) brain tumours, particularly diffuse low-grade gliomas. Although not in widespread clinical use, it is likely that 2-hydroxyglutarate, which resonates at 2.25 ppm, will be able to be ...
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Adenoma-carcinoma sequence

The adenoma-carcinoma sequence refers to a stepwise pattern of mutational activation of oncogenes (e.g. K-ras) and inactivation of tumour suppressor genes (e.g. p53) that results in cancer. An oncogene is a gene that has the potential to cause cancer. In tumour cells, these are often mutated or ...
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AFP reduction

Human AFP (alpha-fetoprotein) reduction is seen in pregnancy where it can be associated with:  certain chromosomal anomalies Down syndrome Turner syndrome trisomy 13 trisomy 18 Cornelia de-Lange syndrome 2
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Alzheimer type I glia

Alzheimer type I glia are a type of glial cell. They are large multinucleated astrocytes encountered in glial tumours and progressive multifocal leukoencephalopathy (PML) 1. 
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Alzheimer type II glia

Alzheimer type II glia are a type of glial cell. They are a pathological reactive astrocyte seen in the brain, unrelated to Alzheimer disease. They are seen most frequently in Wilson disease, but also in other systemic metabolic disorders, particularly those with elevated ammonia levels, typical...
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Arthrofibrosis

Arthrofibrosis is a complication of injury or trauma to a joint. It consists of excessive scar tissue formation within the joint capsule, resulting in pain, stiffness, and swelling that are greater than expected in the given clinical scenario. It has been most extensively studied in the knee, w...
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Aspergillus clavatus

Aspergillus clavatus is one of the species of Aspergillus that can cause pathology in humans. It is allergenic and causes a hypersensitivity pneumonitis called malt-workers lung. See also Aspergillus Aspergillus fumigatus Aspergillus flavus Aspergillus clavatus
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Astrocytes

Astrocytes are cells of the central nervous system which act as both physical and physiological support for the neurones that are embedded between them. They are particularly abundant in the grey matter, where they are the most abundant glial cells 1. They are highly branched and contribute to ...
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Atypical small acinar proliferation

Atypical small acinar proliferations (ASAP) are premalignant lesions of the prostate, which can be found in as many as 5% of prostate biopsies. They are suspicious glands without adequate histologic atypia to establish a definitive diagnosis of prostate cancer. Some studies showed that there is ...
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Bone contusion

Bone (marrow) contusion (bone bruising or bone marrow oedema) is an osseous injury which may result from compression of bone structures. Pathology Bone contusions represent microfractures with haemorrhage and can progress to osteochondritis dissecans 2. They typically appear within 48 hours of...
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CA-125

Serum CA-125 is well recognised as an ovarian cancer-associated marker and is an antigen determinant on a high-molecular-weight glycoprotein. The normal range of CA-125 is 0-35 U/mL. Serum CA-125 levels can also be used to monitor the response to treatment as well as a prognostic indicator sinc...
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CA 19-9 elevation

CA 19-9 (carbohydrate antigen 19-9 or cancer antigen) is a serum antigen (monosialoganglioside) that has increased diagnostic use in the management of several malignancies, mainly of hepatopancreaticobiliary origin. It is non-specific, however, and can rise in both malignant and non-malignant co...
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Carcinoembryonic antigen

Serum carcinoembryonic antigen (CEA) is a cell-adhesive glycoprotein that was discovered in colorectal cancer in 1965, and is hence one of the oldest and most used tumour markers. Its name derives from its normal expression in fetoembryonic liver, gut and pancreas tissue. Normal range of CEA is...
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Charcot-Leyden crystals

Charcot-Leyden crystals consist of collections of bipyramidal crystalloid made up of eosinophilic membrane proteins, which occur in:  asthma other eosinophilic lung disease 2 certain cases of sinusitis (e.g. allergic fungal sinusitis) They may be detected in the sputum or sinus secretions wi...
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Choristoma

A choristoma is simply a collection of microscopically normal cells or tissues in an abnormal location. This is different to a hamartoma which is derived only from local tissues. Examples include: adrenal choristoma (myelolipoma) nasopharyngeal choristoma facial nerve choristoma optic nerve...
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Chromogranin A

Chromogranin A (CgA) is an acidic secretory glycoprotein found in the secretory granules of neuroendocrine cells and neurones, as is a member of the granin family of proteins. It can be used both for immunohistochemical stains and as a serum marker 4.  Immunohistochemistry Chromogranin A is us...
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Circumferential resection margin

The circumferential resection margin (CRM) is a term used in rectal carcinoma excision surgery (such as total mesorectal excision (TME)). Pathologic evaluation of the resection margin on the excised rectum has been considered important for determining the risk of local recurrence. A margin of ≤...
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Columnar alteration with prominent apical snouts and secretions

Columnar alteration with prominent apical snouts and secretions (CAPSS) is a pathological entity encountered when breast biopsies are done for investigation of punctate or amorphous calcifications. CAPSS involves the terminal ductal and lobular units (TDLU's). It is sometimes classified under t...
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Cowdry bodies

Cowdry bodies are neuronal intranuclear inclusions seen in Herpes simplex virus infections.
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Cushing syndrome

Cushing syndrome is due to the effects of excessive glucocorticoids which may be exogenous or endogenous. Pathology In modern Western populations, iatrogenic steroid administration for treatment of inflammatory condition is the most common cause, e.g. asthma, rheumatoid arthritis. Endogenous ...
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Ependymal cells

Ependymal cells are one of the four main types of glial cells, and themselves encompass three types of cells 1:  ependymocytes: line the ventricles of the brain and central canal of the spinal cord tanycytes: line the floor of the third ventricle choroidal epithelial cells: line the surface o...
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Ependymal rosettes (ependymoma)

Ependymal rosettes correspond to a histologic architectural pattern that very characteristic of ependymomas, as tumour cells form structures similar to the lining of normal ventricles. They are characterised by a halo or spoke-wheel arrangement of tumour cells surrounding an empty central tubule...
Article

Ependymocytes

Ependymocytes are one of the three types of ependymal cells, which in turn are one of the four principles types of glial cells, and are found lining the ventricular system of the brain and the central canal of the spinal cord 1.  They do not form a water-tight barrier between the cerebral spina...
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Epithelial membrane antigen (EMA)

Epithelial membrane antigen (EMA) is a commonly used target for immunohistochemisty, found on the surface of many epithelial cells and thus present in a wide variety of tumours. It also is sometimes seen within the cytoplasm of cells (e.g. perinuclear dot in ependymomas). 
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Extensive intraductal component (invasive ductal carcinoma)

Extensive intraductal component (EIC) in breast imaging evaluation is the pathological description where an invasive ductal carcinoma has a prominent intraductal component within it or if there is intraductal carcinoma, DCIS is present within sections of normal adjacent tissue. It is sometimes c...
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Extramural vascular invasion

Extramural vascular invasion (EMVI) is the direct invasion of a blood vessel (usually a vein) by tumour. In rectal cancer, this can occur on a macroscopic level and be detected on staging MRI. It is a significant prognostic factor, being a predictor of haematogenous spread.  Radiographic featur...
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Faecal calprotectin

Faecal calprotectin (FCAL) is a protein which is a marker of inflammation of the gut used as a diagnostic tool and marker of disease activity for Crohn disease and ulcerative colitis. Biochemistry Calprotectin is a protein complex from the S-100 family, which is formed of three polypeptide cha...
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Fetal bradyarrhythmia

Fetal bradyarrhythmia refers to an abnormally low fetal heart rate (less than 100-110 beats per minute 3,7) as well as being irregular, i.e. irregular fetal bradycardia. Pathology A fetal bradyarrhythmia can fall into several types which include fetal partial atrioventricular block (PAVB) fe...
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Fetal cardiomyopathy

Fetal cardiomyopathy refers to a very rare situation where a cardiomyopathy occurs in utero. It is often a diagnosis of exclusion where, by definition, there is an absence of an underlying congenital cardiac morphological anomaly. Epidemiology The estimated incidence is variable with the high ...
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Fetal goitre

A fetal goitre is an enlargement of the thyroid gland in utero. It can occur with either hyper or hypothyroidism (and in isolated cases of euthyroidism 8). Pathology The mechanism is different depending on whether the underlying cause is hyper or hypothyroidism.  Associations maternal Graves...
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Fetal pericardial teratoma

Fetal pericardial teratomas are rare pericardial teratomas that present in utero. They are an uncommon primary cardiac tumour occurring in a fetus. Pathology It is a type of germ cell tumour and arises from multipotential cells derived from all three germinal layers. In contrast to ovarian ter...
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Fibrillary astrocytoma

Fibrillary astrocytomas are the most common type of diffuse low grade astrocytoma and as of the 2016 update to WHO classification of CNS tumours it no longer exists as a distinct entity, having been incorporated into the generic term diffuse astrocytoma 6.  Terminology Unlike the other variant...
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Fibroadenoma (breast)

Fibroadenoma is a common benign breast lesion and results from excess proliferation of connective tissue. Fibroadenomas characteristically contain both stromal and epithelial cells.  Epidemiology They usually occur in women between the ages of 10 and 40 years. It is the most common breast mass...
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Fibrocartilaginous embolism

Fibrocartilaginous embolism (also known as nucleus pulposus embolism) is a rare cause of spinal cord ischaemia due to embolisation of nucleus pulposus material from intervertebral disc in a retrograde direction to a spinal artery or vein. Fibrocartilaginous embolism is a diagnosis of suspicion....
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Fibrocystic change (breast)

Fibrocystic change of the breast (also known as diffuse cystic mastopathy) is a benign alteration in the terminal ductal lobular unit of the breast with or without associated fibrosis. It is seen as a wide spectrum of altered morphology in the female breast from innocuous to those associated wit...
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Fibromatosis colli

Fibromatosis colli is a rare form of infantile fibromatosis that occurs within the sternocleidomastoid muscle (SCM). Epidemiology There may be a slight male predilection. It typically presents a few weeks after birth. Clinical presentation Presentation is usually with torticollis and is most...
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Fibromatosis of the breast

Fibromatosis of the breast (also known as an extra-abdominal desmoid tumour of the breast or mammary fibromatosis 4) is considered as a type of rare breast tumour. It is a non-metastasising benign but locally invasive stromal tumour 4. However, it can mimic more sinister types of breast cancer o...
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Fibrosarcoma of the bone

Fibrosarcoma of the bone is a rare malignant bone tumor which may occur as a primary lesion, or secondarily after radiation treatment, dedifferentiation from other tumors 3 or pathologies such as Paget disease, bone infarction, or chronic osteomyelitis. Terminology It is a distinct entity from...
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Fibrosarcoma of the breast

Fibrosarcoma of the breast is a type of malignant stromal sarcoma that rarely occurs as a primary tumour within the breast.  Pathology A fibrosarcoma is composed of immature mesenchymal elements surrounded by a collagenous substance. It is a type of breast sarcoma with a predominant “herringbo...
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Fibrosing colonopathy

Fibrosing colonopathy a condition characterised by progressive submucosal fibrosis, particularly of the proximal colon. It is associated with high dose lipase supplementation used to treat exocrine insufficiency of the pancreas, such as in treatment for cystic fibrosis. Epidemiology It is more...
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Fibrothorax

Fibrothorax is defined as fibrosis within the pleural space, and occurs secondary to the inflammatory response to one of the following events:   tuberculosis / tuberculous pleuritis - mainly as a late sequelae 3 thoracic empyema asbestos-related pleural disease rheumatoid arthritis haemotho...
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Fibrotic non-specific interstitial pneumonitis

Fibrotic non-specific interstitial pneumonitis is a histological subtype of non-specific interstitial pneumonitis (NSIP). It is considered the more common form 1. This pattern manifests as chronic interstitial inflammation obscured by interstitial fibrosis (with dense collagen), a temporal homog...
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Fibrous cortical defect

Fibrous cortical defects (FCD) are benign bony lesions and are a type of fibroxanthoma, histologically identical to the larger non-ossifying fibroma (NOF). Epidemiology Fibrous cortical defects typically occur in children (usually 2-15 years), and indeed are one of the most common benign bony ...
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Fibrous meningioma

Fibrous meningiomas (also known as fibroblastic meningiomas) are the second most common histological subtype of meningioma, found in ~50% of all meningiomas, usually along with meningothelial histology (40%) or in isolation (7%). They are, for some reason, the most common intraventricular mening...
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Fibular hemimelia

Fibular hemimelia is a congenital lower limb anomaly characterised by partial or complete absence of fibula and includes a spectrum ranging from mild fibular hypoplasia to complete fibular aplasia 1. Epidemiology Although rare in occurrence, it is the most common congenital absence of long bon...
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First branchial cleft cyst

First branchial cleft cysts are a type of branchial cleft anomaly. They are uncommon and represent only ~7% of all branchial cleft cysts. Epidemiology They are usually diagnosed in middle-aged women 3-4.  Clinical presentation Their presentation can in the form of 3: asymptomatic, e.g. inci...
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Fish vertebra

The term fish vertebra (also codfish vertebra) describes the biconcave appearance of vertebrae (especially lumbar vertebrae). Pathology osteoporosis  sickle cell disease hereditary spherocytosis homocystinuria renal osteodystrophy osteogenesis imperfecta thalassemia major (rarely) Histo...
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Flail chest

Flail chest or flail thoracic segment occurs when three or more contiguous ribs are fractured in two or more places. Clinically, a segment of only one or two ribs can act as a flail segment, hence there is some controversy between the clinical and radiological definitions. Clinical presentation...
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Flash filling hepatic venous malformation

Flash filling hepatic venous malformations, also known as flash filling hepatic haemangiomas, are a type of atypical hepatic venous malformation (haemangioma), which due to its imaging features often raises the concern of a malignant process rather than a benign one.  Terminology It is importa...
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Flavivirus encephalitis

Flavivirus encephalitis include a number of entities which characteristically involve the basal ganglia and thalami.  Clinical presentation Typically these conditions present with a prodrome which is nonspecific but indicative of a viral infection. Symptoms include fever, myalgia, rash, rigors...
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Flexner-Wintersteiner rosette

The presence of Flexner-Wintersteiner rosette is characteristic for retinoblastoma but is also seen in pineoblastoma and medulloepitheliomas. 
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Floating teeth

Floating teeth is the description given to the appearances on imaging of teeth 'hanging in the wind' as a result of alveolar bone destruction around the root of the teeth.  Differential diagnosis They are uncommonly encountered, with a wide differential diagnosis - albeit that the underlying c...
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Fluorosis

Skeletal fluorosis is a chronic metabolic bone disease caused by ingestion of large amounts of fluoride through either water or food in geographic areas where high levels of fluoride occur naturally. Radiographic features Plain film/CT Described features include: increased bone density: oste...
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Focal areas of signal intensity (brain)

Focal areas of signal intensity (FASI), alternatively called focal abnormal signal intensity or unidentified bright objects, are bright areas on T2-weighted images commonly identified in the basal ganglia (often the globus pallidus), thalamus, brainstem (pons), cerebellum, and subcortical white ...
Article

Focal brainstem glioma

Focal brainstem gliomas are a relatively uncommon type of brainstem glioma, which carry a more favorable prognosis compared to the more common diffuse brainstem glioma. The name is a reflection of the imaging findings, which demonstrate a sharply demarcated mass with relatively frequent enhancem...
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Focal cortical dysplasia

Focal cortical dysplasias (FCD) represent a heterogeneous group of disorders of cortical formation, which may demonstrate both architectural and proliferative features. They are one of the most common causes of epilepsy and can be associated with hippocampal sclerosis and cortical glioneuronal n...
Article

Focal lymphoid hyperplasia of the lung

Focal lymphoid hyperplasia of the lung refers to an abnormal accumulation of non-malignant lymphocytic aggregates within the lung.  Terminology It iwas previously known as pulmonary pseudolymphoma. Clinical presentation Clinical features can vary from being asymptomatic to various symptoms s...
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Follicular lymphoma

Follicular lymphoma is a subtype of non-Hodgkin lymphoma (NHL) and is, in fact, the most common type. Epidemiology Estimated to account for ~45% of all NHL cases 1. Higher rates in North America and Europe 4.  Pathology Nodal effacement by closely packed follicles containing small cleaved ce...
Article

Follicular thyroid adenoma

Follicular thyroid adenoma is a commonly found benign neoplasm of the thyroid consisting of differentiated follicular cells. It can not be differentiated from follicular carcinoma on cytologic, sonographic or clinical features alone 1. Epidemiology Follicular thyroid adenoma is more commonly f...
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Forked umbilical cord

Forked umbilical cord is rare anomaly of the umbilical cord, which can be detected on antenatal scan. The umbilical cord splits into two cords and contains three vessels in each of the bifurcated cords. This anomaly is seen associated with monochorionic twins. Radiographic features Ultrasound ...
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Fournier gangrene

Fournier gangrene is a necrotising fasciitis of the perineum. It is a true urological emergency due to the high mortality rate but fortunately the condition is rare. Epidemiology Fournier gangrene is typically seen in diabetic men aged 50-70 but is rarely seen in women. Other than age, predisp...
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Fracture healing

Fracture healing occurs naturally after traumatic bony disruption. This process begins with hemorrhage and progresses through three stages: inflammatory reparative remodelling This process can be supported by various treatment options with immobilisation a mainstay; inappropriate treatment m...
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Frontal sinus fracture

Frontal sinus fractures are facial fractures that involve the frontal sinus, either in isolation or more commonly as part of more complex facial fractures. They can result in cosmetic deformity, functional impairment, CSF leak, and/or intracranial infection (e.g. meningitis). Epidemiology Fron...
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Frontoethmoidal encephalocele

Frontoethmoidal encephaloceles are second only to occipital encephaloceles in terms of frequency, representing approximately 15% of all encephaloceles. They represent meninges or brain tissue herniating through cranial defect in the anterior cranial fossa and typically result in facial deformity...
Article

Fundic gland polyp

Fundic gland polyps (FGP) are the most common type of gastric polyp. Epidemiology FGPs occur most commonly in middle-aged females. They have been reported to be identified in ~1% of gastroscopies 3,4.  Clinical presentation FGPs are usually an asymptomatic, incidental finding 1.  Pathology ...
Article

Gallbladder carcinoma

Gallbladder carcinomas are usually asymptomatic until they reach an incurable stage. As such, early incidental detection is important, if the occasional patient is to be successfully treated. The majority (90%) are adenocarcinomas, and the remainder are squamous cell carcinomas.  Epidemiology ...
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Gallbladder dysfunction

Gallbladder dysfunction, or functional gallbladder disorder, refers to biliary pain due to motility disturbance of the gallbladder without gallstones, biliary sludge, microlithiasis or microcrystals. The disorder has previous been known by several other names, including gallbladder dyskinesia, g...
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Gallbladder hydrops

Gallbladder hydrops refers to marked dilatation of the gallbladder due to chronic obstruction of the cystic duct results in accumulation of the sterile non-pigmented mucin. Clinical presentation Abdominal pain with palpable gallbladder without any signs of infection. In an asymptomatic patient...
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Gallbladder perforation

Gallbladder perforations are a relatively rare complication that can occur in some situations but occurs most frequently as a result of acute cholecystitis. It can carry a relatively high mortality rate. It can also occur during laparoscopic cholecystectomies with the incidence of gallbladder pe...
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Gallbladder polyp

Gallbladder polyps are elevated lesions on the mucosal surface of the gallbladder. The vast majority are benign, but malignant entities are possible. Gallbladder polyps may be detected on ultrasound, CT, or MRI, but are usually best characterized on ultrasound. Epidemiology Gallbladder polyps ...
Article

Gallbladder volvulus

Gallbladder volvulus is a relatively rare condition in which there is a rotation of the gallbladder around the axis of the cystic duct and artery. Clinical presentation Symptoms are non-specific, however right upper quadrant pain and vomiting are similar to biliary colic. Laboratory evaluation...
Article

Gallstone pancreatitis

Gallstone pancreatitis refers to pancreatitis caused by gallstones, specifically distal choledocholithiasis. Gallstones is the cause for 35-40% of acute pancreatitis but this number has a wide regional variance.  Epidemiology Gallstone pancreatitis has a higher incidence in women (compared to ...
Article

Gallstones

Gallstones, also called cholelithiasis, are concretions that occur anywhere within the biliary system, most commonly within the gallbladder.  Terminology Gallstones (cholelithiasis) describes stone formation at any point along the biliary tree. Specific names can be given to gallstones dependi...
Article

Gamma-aminobutyric acid (GABA) peak

Gamma-aminobutyric acid (GABA) is the principle inhibitory neurotransmitter in the central nervous system 1 and as such, is one of the compounds examined in MR spectroscopy.  It is present in the human brain at a concentration of about 1 mM, a whole order of magnitude lower than some of the more...
Article

Ganglioneuroma

Ganglioneuromas are fully differentiated neuronal tumours that do not contain immature elements and potentially occur anywhere along the peripheral autonomic ganglion sites.  On imaging, usually, they present as well-defined solid masses and can be quite large at presentation. Generally, they a...
Article

Gangrenous cholecystitis

Gangrenous cholecystitis is the most common complication of acute cholecystitis, affecting ~15% (range 2-30%) of patients.  Pathology Gangrenous cholecystitis occurs as a result of ischaemia with necrosis of the gallbladder wall 4.  Risk factors male increasing age delayed surgery cardiov...
Article

Gartner duct cyst

Gartner duct cysts develop from embryologic remnants of the Wolffian (mesonephric) duct. They are often noticed incidentally on ultrasound or MRI. Clinical presentation They may cause mass effect on adjacent structures. Pathology Location Gartner duct cysts are located in the anterolateral ...
Article

Gastric adenocarcinoma

Gastric adenocarcinoma, commonly referred to as gastric cancer, refers to a primary malignancy arising from the gastric epithelium. It is the most common gastric malignancy.  Epidemiology Gastric cancer is rare before the age of 40, but its incidence steadily climbs after that and peaks in the...
Article

Gastric antral vascular ectasia

Gastric antral vascular ectasia (GAVE), also known as watermelon stomach, is a rare condition affecting the stomach. It is one of the diagnoses to consider in older patients with severe anaemia and occult or profuse gastrointestinal bleeding (especially in those with cardiac, liver, or renal dis...
Article

Gastric antral web

Gastric antral webs are a ring of mucosa in the distal stomach (gastric antrum) that can lead to gastric outlet obstruction. A circumferential ring of mucosa has also been termed a "gastric antral diaphragm". Epidemiology Gastric antral webs are rare. There is an association with trisomy 21 an...
Article

Gastric lipoma

Gastric lipomas are a location-specific subtype of gastrointestinal lipomas and represent a rare benign mesenchymal tumours of the stomach. They can be definitively diagnosed on CT.  Epidemiology Gastric lipomas are rare, accounting for <5% of gastrointestinal lipomas and <1% of all gastric ne...
Article

Gastric polyps

Gastric polyps are uncommon findings, even on endoscopy where they are encountered in only 2-6% of patients.  Pathology There are a number of gastric polyp subtypes 1-3: non-neoplastic polyps hyperplastic polyps virtually no malignant potential typically small (<1cm), multiple, and sessile...
Article

Gastric volvulus

Gastric volvulus is a specific type of volvulus that occurs when the stomach twists on its mesentery. It should be at least 180° and cause bowel obstruction to be called gastric volvulus. Merely gastric rotation on its root is not considered gastric volvulus. Epidemiology Organo-axial volvulus...
Article

Gastrinoma

Gastrinomas are the second most common pancreatic endocrine tumour and the most common type in the setting of multiple endocrine neoplasia type I (MEN I). Epidemiology Most gastrinomas are sporadic, although some are seen in the setting of multiple endocrine neoplasia type I (MEN I). In genera...
Article

Gastrointestinal amyloidosis

Gastrointestinal amyloidosis is relatively common, although symptomatic involvement is more rare. It is diagnosed if there is persistent gastrointestinal (GI) symptoms with endoscopic biopsy proven amyloid deposition. Epidemiology Tends to affect middle-aged and older patients.  Clinical pres...
Article

Gastrointestinal angiodysplasia

Gastrointestinal angiodysplasias or angioectasias are one of the most common causes of occult gastrointestinal bleeding. Clinical presentation Patients can present with symptoms and signs upper or lower gastrointestinal bleeding although they can commonly be an incidental finding.  Epidemiolo...
Article

Gastrointestinal neuroendocrine tumours

Gastrointestinal neuroendocrine tumours (GI NETs) can be functional or non-functional: functional NETs can be challenging to localise as:  they are often small in size at the time of diagnosis  arise in many sites throughout the body non-functioning and/or malignant NETs often are larger at ...
Article

Gastro-oesophageal reflux disease

Gastro-oesophageal reflux disease (GORD) is a spectrum of disease that occurs when gastric acid refluxes from the stomach into the lower end of the oesophagus across the lower oesophageal sphincter (LOS). Pathology Minor reflux disease In most patients with reflux disease, reflux is initiated...
Article

Gastroschisis

Gastroschisis refers to extra-abdominal herniation (evisceration) of fetal or neonatal bowel loops (and occasionally portions or the stomach and or liver) into the amniotic cavity through a para-umbilical abdominal wall defect.   Epidemiology The estimated incidence is at around 1-6 per 10,000...
Article

GATA2 deficiency

GATA2 deficiency is a germ-line disease expressed as a wide spectrum of phenotypes, including monocytopenia, myelodysplasia, myeloid leukaemias, and lymphoedema. It is a rare cause of pulmonary alveolar proteinosis. Clinical presentation GATA2 deficiency has considerably variable clinical mani...
Article

Gaucher disease

Gaucher disease (GD) is the most common lysosomal storage disease in humans. It is an autosomal recessive, multisystem disease arising from a deficiency of glucocerebrosidase or beta-glucosidase activity, resulting in accumulation of a glycolipid (glucocerebroside) within the lysosomes of macrop...

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