Buzzwords Flashcards
alpha-synuclein cytoplasmic inclusions
Lewy Body Dementia
Facioscapulohumeral muscular dystrophy (FSHMD) inheritance
Autosomal Dominant
Lesion in: medial thalamus and mammillary bodies of the hypothalamus
Wernicke and Korsakoff syndrome
Lesion in: Subthalamic nucleus of the basal ganglia
Hemiballism
Lesion in: Striatum (caudate nucleus) of the basal ganglia
Huntington’s chorea
Lesion in: Substantia nigra of the basal ganglia
Parkinson’s disease
Where lesion for- Kluver-Bucy syndrome
Lesion in: Amygdala
Hypersexuality, hyperorality, hyperphagia, visual agnosia
Kluver-Bucy syndrome (amygdala lesion)
Fluent speech, poor comprehension, normal repetition
Wernicke’s (receptive) aphasia
Non-fluent speech, normal comprehension, normal repetition
Broca’s (expressive) aphasia
Fluent speech, normal comprehension, poor repetition
Conductive (associative) aphasia
Wernicke’s (receptive) aphasia lesion site
Superior temporal gyrus
Broca’s (expressive) aphasia lesion site
Inferior frontal gyrus
Conduction (associative) dysphasia
Arcuate fasiculus
Ataxic telangiectasia inheritance
Autosomal recessive
Friedrich’s ataxia inheritance
Autosomal recessive
Anti MuSK associated with
Myaesthenia Gravis
Anti-GM1 associated with
acute inflammatory demyelinating polyneuropathy (AIDP) variant of Guillain-Barre syndrome
Auer rods
AML
Haem malignancy with Sudan black
AML (stains myeloblasts)
Haem malignancy with PAS
ALL (periodic acid schiff)
Haem malignancy with non-specific esterase
AML
Paraneoplastic Ab: LEMS
Anti-VGCC
Paraneoplastic Ab: sensory neuropathy, cerebellar syndrome, encephalomyelitis
Anti-Hu
Which mailgnancies: Anti-Hu
SCLC, Neuroblastoma
Which malignancies: Anti-Yo
Ovarian and Breast
Paraneoplastic Ab: cerebellar syndrome
Anti-Yo
Paraneoplastic Ab: Stiff person’s syndrom or diffuse hypertonia
Anti-GAD
Which malignancies: Anti-GAD (3)
Breast, Colorectal, SCLC
Paraneoplastic Ab: ocular opsoclonus-myoclonus
Anti-Ri (OPqRS)
Which malignancies: Anti-Ri
SCLC + Breast
Anti-GQ1b
Miller Fischer syndrome (90%)
Anti-GM1
25% of Guillain Barre syndrome
Smear cells
CLL (CeLLs)
Translocation 9;22
Walking down the street in Philladelphia at 9.22 (CML)
Philladelphia chromosome
CML (Philladelphia CrM cheese)
Auer rods
AML (in myeloid cells)
Translocation 15;17
Acute promyelocytic leukaemia (AML; M3, 3:17pm)
Translocation 8;21
AML (good prognosis- get there early (8:21); M2)
Translocation 8;14
Burkitt’s lymphoma (8, B; 1,l- 8urkitt’s 1ymphoma) (c-MYC)
Ch 5q-
Myelodysplastic syndrome (loss of part of long arm of Ch 5
Translocation 14;18
Follicular NHL (Non-Hodgkin’s lymphoma; Fourteen Follicular (BCL-2))
Owl’s eye nucleoli (haem)
Reed-Sternberg cells- Hodgkin’s lymphoma
Reed-Sternberg cells
Hodgkin’s lymphoma
Chemo: ABVD
Hodgkin’s lymphoma (Adriamycin, Bleomycin, Vinblastine, Dacabazine)
Chemo: R-CHOP
High-grade NHL (Rituximab, Cyclophosphamide, Adriamycin (hydroxdau..), Vincristine (oncovin), Prednisolone
Chemo: FCR
CLL (Fludarabine, Cyclophosphamide, Rituximab)
BCR-ABL translocation
t9;22 Philladelphia Ch- CML
Chemo: Imatinib
CML- TyrKi inhibitor targets BCR-ABL fusion protein (tyrosine kinase)
Test prolonged in haemophilias
APTT
Haemophilia A/B inheritance
X-linked (some sporadic)
Factor IX deficiency
Haemophilia B (B9 Bomber; Christmas disease)
Factor VIII deficiency
Haemophilia A (Ate - Eight)
JAK-2 mutation
Polycythaemia Rubra Vera
ADAMST13 deficiency
Thrombotic Thrombocytopenic Purpura (TTP)- Protease that cleaves part of vWF (to make it less sticky)
Karyotype 47, XXY
Klinefelter’s syndrome
Starry sky appearance
Burkitt’s lymphoma
Virus associated with Burkitt’s lymphoma (endemic)
EBV (B cells, EBV, Burkitt’s)- mandibular/maxilla
Virus asscoiated with sporadic (immunodeficient) Burkitt’s lymphoma
HIV- usually abdominal (ileo-caecal)
EBV also associated
Blood film: Target cells, Howell Jolley bodies, Pappenheimer bodies, siderotic granules, acanthocytes
Post-splenectomy
Blood film: Target cells, pencil poikilocytes
Fe deficiency anaemia
Blood film: Tear drop poikilocytes
Myelofibrosis
Blood film: Schistocytes
Intravascular haemolysis
Blood film: Hypersegmented neutrophils
Megaloblastic anaemia
CA 125
Ovarian and Endometrial Ca
CA 19-9
Pancreatic Ca
CA 15-3
Breast Ca
PSA tumour marker
Prostate Ca
CEA tumour marker
Colorectal Ca