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| III. Family history in first-degree relatives | | III. Family history in first-degree relatives |
| |} | | |} |
| | ==== The Livneh criteria for diagnosing familial Mediterranean fever==== |
| | {| |
| | |- style="background: #4479BA; color: #FFFFFF; text-align: center;" |
| | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Type |
| | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Criteria |
| | |- |
| | ! style="background: #696969; color: #FFFFFF; text-align: center;" |Major |
| | | style="background: #DCDCDC; padding: 5px; text-align: left;" | |
|
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|
| | |- |
| | ! style="background: #696969; color: #FFFFFF; text-align: center;" |Minor |
| | | style="background: #DCDCDC; padding: 5px; text-align: left;" | |
| | |} |
| ===Tel Hashomer criteria=== | | ===Tel Hashomer criteria=== |
| [Disease name] may be diagnosed at any time if one or more of the following criteria are met: | | [Disease name] may be diagnosed at any time if one or more of the following criteria are met: |
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| ==References== | | ==References== |
| {{Reflist|2}} | | {{Reflist|2}} |
|
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| __NOTOC__
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|
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| ===Management options of Retinoblastoma===
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| :*
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| {| class="wikitable"
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| |+
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| ! colspan="2" |Treatment options for Intraocular tumor
| |
| |-
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| |Unilateral retinoblastoma
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| * Enucleation followed by chemotherapy
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| *Conservative ocular salvage approaches:
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| **Chemoreduction with either systemic or ophthalmic artery infusion chemotherapy with or without intravitreal chemotherapy
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| **Local treatments (cryotherapy, thermotherapy, and plaque radiation therapy)
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| |-
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| |Bilateral retinoblastoma
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| |
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| * Enucleation for large intraocular tumors, followed by risk-adapted chemotherapy when the eye and vision cannot be saved
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| * Conservative ocular salvage approaches when the eye and vision can be saved:
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| **Chemoreduction with either systemic or ophthalmic artery infusion chemotherapy with or without intravitreal chemotherapy
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| **Local treatments (cryotherapy, thermotherapy, and plaque radiation therapy)
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| **EBRT
| |
| |-
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| |Cavitary retinoblastoma
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| |
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| * Systemic and/or intra-arterial chemotherapy
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| |-
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| |Progressive or recurrent intraocular retinoblastoma
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| * Enucleation
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| * Radiation therapy (EBRT or plaque radiation therapy)
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| * Local treatments (cryotherapy or thermotherapy)
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| * Salvage chemotherapy (systemic or intra-arterial)
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| * Intravitreal chemotherapy
| |
| |+
| |
| ! colspan="2" |Treatment options for Extraocular tumor<ref name="urlRetinoblastoma Treatment (PDQ®)—Health Professional Version - National Cancer Institute">{{cite web |url=https://www.cancer.gov/types/retinoblastoma/hp/retinoblastoma-treatment-pdq#_13 |title=Retinoblastoma Treatment (PDQ®)—Health Professional Version - National Cancer Institute |format= |work= |accessdate=}}</ref>
| |
| |-
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| |Orbital and locoregional retinoblastoma
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| * Chemotherapy
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| * Radiation therapy
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| |-
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| |CNS disease
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| * Systemic chemotherapy and CNS-directed therapy
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| * Systemic chemotherapy followed by myeloablative chemotherapy and stem cell rescue
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| |-
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| |Trilateral retinoblastoma
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| * Systemic chemotherapy followed by surgery and myeloablative chemotherapy with stem cell rescue
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| * Systemic chemotherapy followed by surgery and radiation therapy
| |
| |-
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| |Extracranial metastatic retinoblastoma
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| |
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| * Systemic chemotherapy followed by myeloablative chemotherapy with stem cell rescue and radiation therapy
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| |-
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| |Progressive or recurrent extraocular retinoblastoma
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| * Systemic chemotherapy and radiation therapy for orbital disease
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| * Systemic chemotherapy followed by myeloablative chemotherapy with stem cell rescue, and radiation therapy for extraorbital disease
| |
| |}
| |
|
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| {| border="3"
| |
| |+ Intraocular classifications of retinoblastoma and their features
| |
| ! !! International Intraocular Retinoblastoma Classification (IIRC) !! Intraocular Classification of Retinoblastoma (ICRB)
| |
| |-
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| ! Group A
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| (very low
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| risk)
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| |Small intraretinal tumors away from foveola and optic nerve<br>3mm or smaller in the greatest dimension, confined to the retina<br>Located further than 3 mm from the foveola and 1.5 mm from the optic disc
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| | Tumors ≤ 3 mm (in basal dimension or thickness)
| |
| |-
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| !Group B
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| (low risk)
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| |Tumors confined to the retina<br>Not in the group A<br>Tumor-associated subretinal fluid less than 3 mm from the tumor with no subretinal seeding.
| |
| |Tumors > 3 mm (in basal dimension or thickness) or<br>Macular location (≤ 3 mm to foveola)<br>Juxtapapillary location (≤ 1.5 mm to disc)<br>Additional subretinal fluid (≤3 mm from margin)
| |
| |-
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| ! Group C
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| (moderate
| |
| risk)
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| |Local disease with minimal subretinal or vitreous seeding with following characteristics:<br>Discrete<br>Subretinal fluid, present or past, without seeding involving up to one-fourth of the retina<br>Local fine vitreous seeding may be present close to the discrete tumor<br>Local subretinal seeding less than 3 mm (2 DD) from the tumor
| |
| |Tumor with:<br>Subretinal seeds ≤ 3 mm from tumor<br>Vitreous seeds ≤ 3 mm from tumor<br>Both subretinal and vitreous seeds ≤ 3 mm from retinoblastoma
| |
| |-
| |
| !Group D
| |
| (high risk)
| |
| |Diffuse tumor with significant vitreous or subretinal seeding<br>Maybe massive or diffuse<br>Subretinal fluid present or past without seeding, involving up to total retinal detachment<br>The diffuse or massive vitreous disease may include “greasy” seeds or avascular tumor masses<br>Diffuse subretinal seeding may include subretinal plaques or tumor nodules
| |
| |Tumor with:<br>Subretinal seeds > 3 mm from tumor<br>Vitreous seeds > 3 mm from tumor<br>Both subretinal and vitreous seeds > 3 mm from retinoblastoma
| |
| |-
| |
| !Group E
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| (very high
| |
| risk)
| |
| |Presence of any one or more of the following poor prognosis features<br>Tumor touching the lens<br>Tumor anterior to anterior vitreous face involving the ciliary body or anterior segment<br>Diffuse infiltrating retinoblastoma<br>Neovascular glaucoma<br>Opaque media from hemorrhage<br>Tumor necrosis with aseptic orbital cellulitis<br>Phthisis bulbi
| |
| |Extensive tumor filling >50% globe or with<br>Neovascular glaucoma<br>Opaque media from hemorrhage in the anterior chamber, vitreous or subretinal space<br>Invasion of the post-laminar optic nerve<br>choroid (>2 mm), sclera, orbit, anterior chamber
| |
| |}
| |
| {| style="border: 0px; font-size: 90%; margin: 3px; width: 800px" align="center"
| |
| | valign="top" |
| |
| |+
| |
| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Groups}}
| |
| ! style="background: #4479BA; width: 400px;" | {{fontcolor|#FFF|Features}}
| |
| |-
| |
| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
| |
| :Group A
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| *Small intraretinal tumors away from foveola and optic nerve
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| **3mm or smaller in the greatest dimension, confined to retina
| |
| **Located further than 3 mm from the foveola and 1.5 mm from the optic disc.
| |
| |-
| |
| | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
| |
| :Group B
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| *Tumors confined to the retina.
| |
| **Not in the group A
| |
| **Tumor-associated subretinal fluid less than 3 mm from the tumor with no subretinal seeding.
| |
| |-
| |
| | style="padding: 5px 5px; background: #DCDCDC;font-All remaining discrete tumors confined to the retina.weight: bold" |
| |
| :Group C
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| *Local disease with minimal subretinal or vitreous seeding with following caracteristics:
| |
| **Discrete
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| **Subretinal fluid, present or past, without seeding involving up to one-fourth of the retina
| |
| **Local fine vitreous seeding may be present close to the discrete tumor
| |
| **Local subretinal seeding less than 3 mm (2 DD) from the tumor
| |
| |-
| |
| | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
| |
| :Group D
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| *Diffuse tumor with significant vitreous or subretinal seeding
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| **May be massive or diffuse
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| **Subretinal fluid present or past without seeding, involving up to total retinal detachment
| |
| **The diffuse or massive vitreous disease may include “greasy” seeds or avascular tumor masses
| |
| **Diffuse subretinal seeding may include subretinal plaques or tumor nodules
| |
| |-
| |
| | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
| |
| :Group E
| |
| | style="padding: 5px 5px; background: #F5F5F5;" |
| |
| *Presence of any one or more of the following poor prognosis features
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| **Tumor touching the lens
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| **Tumor anterior to anterior vitreous face involving the ciliary body or anterior segment
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| **Diffuse infiltrating retinoblastoma
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| **Neovascular glaucoma
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| **Opaque media from hemorrhage
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| **Tumor necrosis with aseptic orbital cellulitis
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| **Phthisis bulbi
| |
| |}
| |
|
| |
| *On [[microscopic]] [[histopathological]] analysis, [[carotid body]] [[tumor]] composed of:
| |
| **The chief or [[paraganglionic]] cells composing the predominant part of the [[tumor]] and contain [[eosinophilic]] granular materials and oval or round nuclei.
| |
| **The supporting or sustentacular cells responsible for the [[chemoreceptor]] activity of the [[carotid body]]
| |
| *The characteristic finding of this [[tumor]] is:
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| :*Chief cells Arranged in distinctive pattern called [[cell]] balls (zellballen)
| |
| :*Separated by fibrovascular stroma and surrounded by [[sustentacular]] cells
| |
| :*The [[cytoplasm]] is [[pale]] and diffuse with occasional presence of the [[eosinophilic]] [[granules]].
| |
| :*The nuclei are round to spindle shape.
| |
| *The [[tumor]] is highly [[vascular]].
| |
| *Although there is no well-accepted [[histologic]] criteria for the [[diagnosis]] of [[malignant]] [[tumors]], worrisome [[histologic]] features include:
| |
| **[[Necrosis]]
| |
| **Extensive [[vascular]] or capsular [[invasion]]
| |
| **Increased [[mitotic]] activity
| |
| **Atypical [[mitotic]] figures
| |
| {|
| |
| ! colspan="2" style="background:#DCDCDC;" align="center" + |Diagnostic algorithm for Infantile onset glyogen storage disease type II
| |
| |-
| |
|
| |
| |}
| |
| {| {{table}} cellpadding="4" cellspacing="0" style="border:#c9c9c9 1px solid; margin: 1em 1em 1em 0; border-collapse: collapse;"
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| | align="center" style="background: #4479BA;" | {{fontcolor|#FFF|''' Features on Gross Pathology'''}}
| |
| | align="center" style="background: #4479BA;" | {{fontcolor|#FFF|'''Image'''}}
| |
| |-
| |
| |Characteristic findings of [[carotid body]] [[tumor]], include:<ref name="WienekeSmith2009">{{cite journal|last1=Wieneke|first1=Jacqueline A.|last2=Smith|first2=Alice|title=Paraganglioma: Carotid Body Tumor|journal=Head and Neck Pathology|volume=3|issue=4|year=2009|pages=303–306|issn=1936-055X|doi=10.1007/s12105-009-0130-5}}</ref>
| |
| **Well-circumscribed with psudocapsule
| |
| **The size of the [[tumor]] varies greatly and it may be as large as 10 cm
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| **The cutting surface is solid with a smooth, rubbery texture||
| |
| |[[File:Carotid body tumor.jpg|thumb|300px|Contributed by Paweł Kuźniar in wikimedia.commons]]
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| {{Family tree/start}}
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| {{Family tree | | | | | | | | | | | | A01 | | | |A01= Patient with carotid body tumor}}
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| {{Family tree | | | | | | | | | | | | |!| | | | | }}
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| {{Family tree | | | | | | | | | | | | B01 | | | |B01= History, Physical examination, and evaluation of cnotralateral side}}
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| {{Family tree | | | | | | | | | |,|-|-|^|-|-|.| | }}
| |
| {{Family tree | | | | | | | | | C01 | | | | C02 |C01= Patients with age < 50 years<br>Patients with multiple paraganglioma<br>Patients with a positive family history| C02= The rest of the patients}}
| |
| {{Family tree | | | | | | | | | |!| | | | }}
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| {{Family tree | | | | | | | | | D01 | | | | | |D01= SDHD genetic testing}}
| |
| {{Family tree | | | | | |,|-|-|-|^|-|-|.| | }}
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| {{Family tree | | | | | E01 | | | | | E02 |E01= Presence of SDHD mutation |E02= Absence of SDHD mutation}}
| |
| {{Family tree | | | | | |!| | | | | | |!| | | | | }}
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| {{Family tree | | | | | |!| | | | | | F01 | | | |F01= SDHC and SDHB genetic testing}}
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| {{Family tree | | | | | |!| | | |,|-|-|^|-|-|.| | }}
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| {{Family tree | | | | | |!| | | G01 | | | | G02 |G01= Presence of SDHC/B mutation |G02= Absence of SDHC/B mutation}}
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| {{Family tree | | | | | |!| | | |!| | }}
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| {{familytree | | | | | | H02 |-|'| | | |H02=All the relatives should be evaluated for the presence of paragnaglioma}}
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| {{Family tree | | | | | | |!| | | | }}
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| {{Family tree | | | | | | I01 | | | |I01= whole-body 18F-dihydroxyphenylalanine (F-DOPA) positron emission tomography to assess the presence of other paragangliomas}}
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| {{Family tree | | | |,|-|-|^|-|-|.| |}}
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| {{Family tree | | | J01 | | | | J02 |J01= Presence of other paraganglioma |J02= Absence of other paraganglioma}}
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| {{Family tree | | | |!| | | | | |!| | | }}
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| {{Family tree | | | K01 | | | | K02 |K01= 24-hour urine catecholamines and MRI for biochemical screening|K02=surveillance screening every 5 years}}
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| {{Family tree/end}}
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| <references />
| |