Wednesday 3rd March [DMD, CF, scleroderma, Parry Romberg] Flashcards
What age does muscle weakness usually occur in DMD?
Age 4
What age are children usually unable to stand by in DMD?
Age 12
Causes of DMD
X-linked recessive
Dx test of DMD?
Genetic testing
Average life expectancy of DMD
26
Main types of JIA
Oligoarthritis [persistent vs extended] if 1-4 joints
- polyarthritis [RF positive, RF negative] if 5 or over joints
- systemic onset
- enthesitis-related arthritis
- psoriatic arthritis
- undifferentiated
Ix done in JIA [what do they rule out?]
Hb: anaemia of chronic disease
WCC: leucocytosis
Platelets: thrombocytosis
ESR: usually raised
CRP: often normal/can be raised
U+E/LFT: normal in JIA
ANA: positive or negative
RF: positive or negative
If positive ANA, what can you exclude?
Uveitis
DDx for a swollen joint
A - acute septic arthritis R - reactive: to infection T - trauma H - haematological [haemophilia/leukemia] R - rheumatological: JIA/dermatomyositis/lupus I - immunological: HSP T - tuberculosis I - inflammatory bowel diseases S - sarcoidosis
What is sarcoidosis? Where does it commonly effect?
Disease involving abnormla collections of inflammatory cells that form granulomata. Disease usually begins in the lungs, skin, lymph nodes. Less commonly, eyes, liver, heart, brain can be effected. Any organ though can be effected.
Sx of sarcoidosis
Lungs: wheezing, cough, SOB, chest pain
Skin: lumps, ulcers, discoloured skin
Children: weight loss, bone pain, feeling tired.
What to do if suspect child has leukemia?
Do a blood film and bone marrow biopsy. Blood film will show blast cells.
Why may affected muscle sin DMD look larger?
Due to increased fat content
Common skeletal feature of someone with DMD?
Scoliosis
Name common anaesthesia
Local [-caine]
- ester based: procaine, benzocaine, amethocaine [unstable in soluation, fast-acting, rapidly metabolised. Can cause allergic reactions.]
- amide based: lidocaine, prilocaine, bupivicaine [generally heat-stable, long shelf life, slower half-life]
General
- inhaled: nitrous oxide, deslurane, isoflurane etc,
- IV agents: barbiturates, benzos, ketamine, propofol, opoids [alfentanil, fentanyl, diamorphine]
- muscle relaxants
Who might have a mild presentation of DMD?
Female who have a single copy of the defective gene
How is DMD inherited?
X-linked recessive; 2/3rds from mother, 1/3rd from a new mutation
Which gene mutates in DMD?
Mutation in the gene for the protein dystrophin
What will be high in a patients blood if they are tested in DMD?
Creatine kinase
Tx for DMD
No cure, physical therapy, braces, corrective surgery may help though. Assisted ventilation those with problems breathing.
Steroids slow muscle degenration, anticonvulsants control seizures, immunosuppressants to delay damage muscle cells.
Common is DMD? In boys and girls.
affects about 1 in 3,500/6,000 males at birth. Most common type of muscular dystrophy.
In girls, occurs in approx. 1 in 50m
Average life expectancy in DMD?
To 26 y/o, though with excellent care may go on to live to 30/40s.
What is Parry-Romberg syndrome?
Rare disease characterised by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face [hemifacial atrophy] but occasionally extending to other parts of the body
Which type of mechanism is present in Parry-Romberg?
Autoimmune mechanism is suspected, and the syndrome may be a variant of the localised scleroderma, but the precie cause and pathogenesis of this acquired disorder remains unknwonw.
Epidemiology of Parry-Romberg
Higher prevalence in females, and typically appears between 5 and 15 y/o
In addition to the connective tissue disease, what is the condition sometimes accompanied by?
Neurological, ocular and oral symptoms
Which group fo conditions is it considered to be in?
Morphea
How long does the wasting away occur in Parry-ROmberg?
between 2-10 years before becoming stable
What happens once PR reaches a stable point?
Stops wasting away of facial muscles etc.
Functional problems with PR syndrome?
Eating, speech and appearance difference
Cuase of PR syndrome
UNkonw, theories include trauma/infections, homronal problems, autoimmunity
Wasting pattern of PR syndrome
Atrophy starts between the nose and the upper lip, continues upwards aroundt he eye and ear and downwards towards the neck.
Happens to tissues in the mouth of PR?
Tongue, gums, soft palate also become wasted and tooth development may slow down or stop. May cause problems with eating and speech.
Skin in PR syndrome
Areas too much pigment [hyperpigmentation] appear darker, as well as areas with too little pigment [hypopigmentation].
Hair in PR syndrome
Facial hair may lighten and start to fall out
Pain and neuro Sx in PR syndrome
Pain affected side [though not common], and siezures or fits may develop.
Seizures or fits may develop.
Can wasting skin/soft tissues/muscle re-active?
Yes
Dx of Parry-Romberg
Clinical Hx, as well as physical examination, imaging scans, XR, CT, MRI may be suggested to moniot bone changes.
Clinical photography also helpful to monitor changes.
Skin biopsy may be taken for examination in a lab.
Tx of PR syndrome
May be treated with strong anti-inflammatory medicines in the early phases. INclude steroids and other medicines suchy as MTX.
Reconstructive surgery an option. Liposuction and fat transfer, dental surgery.
Outlook PR syndrome
Good, no long term impact on bodily function such as breathing, vision, hearing. Majority of children go on to lead a normal life, working and raising a family.
Cx of CF
Higher risk of osteoporosis, diabetes, nasal polyps and sinus infection, liver problems, fertility problems.
Outlook for CF?
Tends to get worse over time and can be fatal.
How to assess image quality CXR?
R - rotation: medial aspect each clavical should be equiisrant fromt he spinous prcoess. Spinous process should also be vertically orientated against the vertebral bodies
I - inspiration: the 5/6 interior ribs, lung apices, both costophrnic angles and the lateral rib edges should be visible.
P - projection: note if film is in AP or PA. If no label then assume PA.
E - left hemidiaphramg should be visivle to the psine and the vertebrae should be visible behinf the heart
ABCDE approach for interpretating a CXR
A: airway: trachea, carina, bronchi, hilar structures
B: breathing: lungs and plura
C: heart size and borders
D: diaphragm [incl. assess of costophrenic angles]
E: everytinh else: mediastinal contours, bones, soft tissues, tubes, valves, pacemakers, review areas
Trachea XR
Deviation
Carina and bronchi
NG tube should idssect this if correctly placed. R mian bronchus wider, shorter and more verticle than left.
Hilar structures
Main pulmonary vessels and the major bronchi. Each hilar also has a collection of LN wehich aren;t usually visible in healthy individlas. Hilar same size so any assymetry shoudl raise suspicion of pathology.
Causes of hilar enlargement
Bilateral symmetrical enlargement typically associated with sarcoidosis
Unilateral/asymmetrical enlargement may be due to underlying malignancy
Abnormal hilar position can also be due to a range of different patohlogies, you should inspect for evidence of the hilar being pushed []e.g. by an enlarging soft tissue mass], or pulled [e.g. lobar collpase].
Cuase of PR syndrome
UNkonw, theories include trauma/infections, homronal problems, autoimmunity
Wasting pattern of PR syndrome
Atrophy starts between the nose and the upper lip, continues upwards aroundt he eye and ear and downwards towards the neck.
Happens to tissues in the mouth of PR?
Tongue, gums, soft palate also become wasted and tooth development may slow down or stop. May cause problems with eating and speech.
Skin in PR syndrome
Areas too much pigment [hyperpigmentation] appear darker, as well as areas with too little pigment [hypopigmentation].
Hair in PR syndrome
Facial hair may lighten and start to fall out
Pain and neuro Sx in PR syndrome
Pain affected side [though not common], and siezures or fits may develop.
Seizures or fits may develop.
Can wasting skin/soft tissues/muscle re-active?
Yes
Dx of Parry-Romberg
Clinical Hx, as well as physical examination, imaging scans, XR, CT, MRI may be suggested to moniot bone changes.
Clinical photography also helpful to monitor changes.
Skin biopsy may be taken for examination in a lab.
Tx of PR syndrome
May be treated with strong anti-inflammatory medicines in the early phases. INclude steroids and other medicines suchy as MTX.
Reconstructive surgery an option. Liposuction and fat transfer, dental surgery.
Outlook PR syndrome
Good, no long term impact on bodily function such as breathing, vision, hearing. Majority of children go on to lead a normal life, working and raising a family.
Cx of CF
Higher risk of osteoporosis, diabetes, nasal polyps and sinus infection, liver problems, fertility problems.
Outlook for CF?
Tends to get worse over time and can be fatal.
How to assess image quality CXR?
R - rotation: medial aspect each clavical should be equiisrant fromt he spinous prcoess. Spinous process should also be vertically orientated against the vertebral bodies
I - inspiration: the 5/6 interior ribs, lung apices, both costophrnic angles and the lateral rib edges should be visible.
P - projection: note if film is in AP or PA. If no label then assume PA.
E - left hemidiaphramg should be visivle to the psine and the vertebrae should be visible behinf the heart
ABCDE approach for interpretating a CXR
A: airway: trachea, carina, bronchi, hilar structures
B: breathing: lungs and plura
C: heart size and borders
D: diaphragm [incl. assess of costophrenic angles]
E: everytinh else: mediastinal contours, bones, soft tissues, tubes, valves, pacemakers, review areas
Trachea XR
Deviation
Carina and bronchi
NG tube should idssect this if correctly placed. R mian bronchus wider, shorter and more verticle than left.
Hilar structures
Main pulmonary vessels and the major bronchi. Each hilar also has a collection of LN wehich aren;t usually visible in healthy individlas. Hilar same size so any assymetry shoudl raise suspicion of pathology.
Causes of hilar enlargement
Bilateral symmetrical enlargement typically associated with sarcoidosis
Unilateral/asymmetrical enlargement may be due to underlying malignancy
Abnormal hilar position can also be due to a range of different patohlogies, you should inspect for evidence of the hilar being pushed []e.g. by an enlarging soft tissue mass], or pulled [e.g. lobar collpase].
