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Lint: rasopathy-1

Strong
warning

"Broadly, RASopathies can be described as being caused by germline (germline RASopathies) or somatic mutations 8. The term mosaic RASopathies is often used to describe RASopathy syndromes due to somatic mutations, but this entity has a variable definition in the literature, encompassing syndromes caused by somatic mutations ('true' mosaic RASopahies) affecting the Ras/MAPK pathway, isolated malformations due to somatic mutations affecting the Ras/MAPK pathway, and mosaic forms of germline RASopathies 8."

Line 2:71 · Generally, don't use bold in text: '<strong>germline RASopathies</strong>'

"Broadly, RASopathies can be described as being caused by germline (germline RASopathies) or somatic mutations 8. The term mosaic RASopathies is often used to describe RASopathy syndromes due to somatic mutations, but this entity has a variable definition in the literature, encompassing syndromes caused by somatic mutations ('true' mosaic RASopahies) affecting the Ras/MAPK pathway, isolated malformations due to somatic mutations affecting the Ras/MAPK pathway, and mosaic forms of germline RASopathies 8."

Line 2:154 · Generally, don't use bold in text: '<strong>mosaic RASopathies</strong>'
Acronyms
warning

"cardiofaciocutaneous syndrome: an autosomal dominant Noonan-like disorder caused by a germline mutation to one of many possible genes, the most common being the BRAF gene which encodes for BRAF, an oncoprotein, which when dysfunctional results in increased signalling of the Ras/MAPK pathway 1-3"

Line 38:216 · 'BRAF' has no definition. Spell it out if it's unfamiliar to the audience.

"Costello syndrome: an autosomal dominant Noonan-like disorder caused by a germline mutation to the HRAS gene which encodes for HRAS, which when dysfunctional results in increased signalling of the Ras/MAPK pathway 1-3"

Line 40:147 · 'HRAS' has no definition. Spell it out if it's unfamiliar to the audience.
Headings Valid
warning

Expected headings

  • H1 Terminology
  • H1 Usage
  • H1 Epidemiology
  • H2 Risk factors
  • H2 Associations
  • H1 Clinical presentation
  • H2 Complications
  • H1 Diagnosis
  • H2 Diagnostic criteria
  • H2 Diagnostic clues
  • H1 Pathology
  • H2 Aetiology
  • H2 Location
  • H2 Classification
  • H2 Macroscopic appearance
  • H2 Microscopic appearance
  • H2 Immunophenotype
  • H2 Markers
  • H2 Genetics
  • H1 Radiographic features
  • H2 Plain radiograph
  • H2 Mammography
  • H2 Antenatal ultrasound
  • H2 Transoesophageal echocardiography
  • H2 Ultrasound
  • H2 CT
  • H3 Dual-energy CT
  • H2 Angiography (DSA)
  • H2 MRI
  • H2 CT/MRI
  • H2 Nuclear medicine
  • H3 PET-CT
  • H3 PET-MRI
  • H1 Radiology report
  • H1 Treatment and prognosis
  • H2 Complications
  • H1 History and etymology
  • H1 Differential diagnosis
  • H2 Clinical differential diagnosis
  • H1 Practical points
  • H1 See also

"Germline RASopathy syndromes"

Line 23:1 · "Germline RASopathy syndromes" is not a recognised heading for this article type.

"Mosaic RASopathy syndromes"

Line 47:1 · "Mosaic RASopathy syndromes" is not a recognised heading for this article type.
Inline EG
suggestion

"cutaneous anomalies (e.g. café au lait spots)"

Line 10:28 · Consider replacing a bracketed e.g. with an inline e.g. after a comma.
Commas
suggestion

"Noonan syndrome: autosomal dominant disorder caused by a germline mutation to one of many possible genes, the most common being the PTPN11 gene which encodes for SHP2, which results in an inability to inactivate SHP2 causing increased signalling of the Ras/MAPK pathway; other genes that may be implicated include SOS1, KRAS, RAF1, NRAS, and SHOC2 1-3"

Line 31:115 · More than 5 commas in a single sentence might make it more difficult to read.
Semicolons
suggestion

"Noonan syndrome: autosomal dominant disorder caused by a germline mutation to one of many possible genes, the most common being the PTPN11 gene which encodes for SHP2, which results in an inability to inactivate SHP2 causing increased signalling of the Ras/MAPK pathway; other genes that may be implicated include SOS1, KRAS, RAF1, NRAS, and SHOC2 1-3"

Line 31:289 · Use semicolons judiciously.
Oxford Comma
suggestion

"cutaneous skeletal hypophosphataemia syndrome: due to somatic mutations in HRAS, NRAS or FGFR1 8"

Line 49:94 · Use the Oxford comma in 'HRAS, NRAS or FGFR1'.