Jenna Judd Flashcards
During what weeks in embryology does the basic face develop
Fusion of What 5 processes are involved
4-10 weeks in utero
Frontonasal prominence
Maxillary process x2
Mandibular process x2
What embryological features form the primary palate
When does the primary palate form
What does the primary palate extend posteriorly to
Fusion of the two medial nasal prominences
Forms towards end of week 5 in utero
Incisive foramen
What is the process of development of primary palate
4 steps
- Week 4- frontonasal, maxillary and mandibular processes form
- End of week 4 endothelial thickenings form on frontonasal process making the nasal placodes
- Week 6- epithelium of nasal placode invaginates to form nasal pits dividing frontonasal prominence into medial and lateral frontonasal processes
- End of week 6 medial nasal processes merge with each other and maxillary process to form upper lip and primary palate
What weeks does the secondary palate develop
Weeks 6-10 in utero
What happens during stage 1 of secondary palate formation
When does this happen
Week 6
Paired palatal shelves form from maxillary process and are orientated vertically separated by developing tongue
What happens during stage 2 of secondary palate formation
When does this happen
Week 7
Palatal shelves elevate to horizontal position above tongue
Palatal shelves contact each other but are separated by epithelium
What happens during stage 3 of secondary palate formation
When does this happen
Week 10
Medial edge epithelium of palatal shelves fuse to form midline palatal seam which degenerates to allow palate to be composed of a continuum of mesynchyme
What is the occurance rate of CLP
What side is CLP most common
What gender is cleft lip with or without cleft palate more common in
What gender is cleft palate on its own most common in
1 in 700 births
Left
Male
Female
What causes cleft lip
What are the following types of cleft lip caused by
Oblique facial cleft
Median cleft lip
Bilateral cleft lip
Mandibular cleft
Failure of fusion of medial nasal prominence and maxillary process
Oblique facial cleft- lack of fusion between maxillary and lateral nasal prominence
Median CL- lack of fusion between two medial nasal processes
Bilateral CL- lack of fusion between maxillary and two medial nasal processes
Mandibular cleft- lack of fusion of first brachial arches or malformation of the symphysis
What causes cleft palate
What can cleft palate result from
5
Cleft palate occurs when palatal shelves fail to fuse in the midline
- Cleft lip distorts development and stops palatal shelves fusing
- Failure of shelves to contact due to lack of growth or elevation
- Failure of epithelial breakdown following shelve contact
- Rupture after fusion of shelves
- Defective merging and consolidation of mesenchyme of the shelves
Where does closure of secondary palate initiate
What is indicative of interference at the start of palate closure
What is indicative of interference part way through palate closure
Closure of palate initiates anteriorly then moves posteriorly
Full clefting
Partial clefting
What are the oral manifestations of CLP
5
Hypodontia Microdontia Abnormal tooth shape Delayed eruption Enamel defects
What is the human genome
When was the two initial drafts published
When was the final sequence published
The human genome is the complete set of nucleic acid sequences for humans encoded as DNA within the 23 chromosome pairs in cell nuclei and mitochondria
2001
2003
What is monogenic inheritance
Autosomal dominant
Autosomal recessive
X linked
What are some examples of monogenic conditions
3
Inheritance of a trait through one gene
Autosomal dominant- always expressed if present
Autosomal recessive- only expressed if two copies of the allele present
X linked- carried on x chromosome so carried by females and manifested in males
Cystic fibrosis
Sickle cell
Duchenne muscular dystrophy
What is cystic fibrosis
How many carry the gene
What is its inheritance pattern
What is the genetic cause of CF
CF is an autosomal recessive disorder that causes severe lung damage due to abnormalities in mucus secretion causing thick sticky mucus, is is progressive , required daily care and reduces life expectancy
1 in 25
Often present as single isolated case in absence of family history
Delta F 508 mutation in the CFTR gene - deletion of 3 bases
CFTR is a chloride ion transporter that helps make mucus which cannot fold properly with missing F so misfolded CFTR held in ER and degraded
What are the treatments of CF
Mucolytics
Antibiotics
Bronchodilators
New drug therapy (2)
Mucolytics - dornase alpha
Antibiotics- antibiotics for chest infections
Bronchodilators - beta 2 agonists (salbutamol), anticholinergics, theophylline
New drugs
Lumacraftor- corrects misprocessing of CFTR so more gets to cell surface
Ivacraftor- increases CFTR channel opening to increase chloride transport
What is sickle cell disease
What are the genetic causes
Sickle cell is an autosomal recessive disorder causing pain attacks, anaemia and organ damage as RBC misformed so become trapped
Caused by missence non conservative substitution mutation in which one base is changed in beta globulin gene
Glutamate (hydrophilic) replaced with valine (hydrophobic)
This change in AA sequence causes haemoglobin molecules to crystallise at low blood oxygen levels so RBCs sickle
What is Duchenne muscular dystrophy
What is the genetics
What is the inheritance pattern
Duchenne muscular dystrophy is a recessive x linked disorder causing progressive weakness and loss of muscle mass shortening life expectancy to mid 20s
X linked mutation in dystrophin gene making it non functional
Dystrophin connects cytoskeleton of muscle fibre to ECM for integrity
Carried by females and effects boys in a family
What is mitochondrial disease
What new therapy can be used to prevent mitochondrial disease
Mitochondrial disease is a multifactorial inherited disease carried by mother in the mitochondrial DNA causing compromised energy production so muscles don’t work properly
Donor egg cell combined with mothers nucleus and fathers sperm
What is the relationship between HER2 gene and breast cancer
What is a treatment for HER2 positive tumours and MOA
HER2 gene is involved in cell division, is some breast cancers HER2 is over expressed leading to uncontrolled cell division
Trastuzamab (Herceptin) : binds to HER2 causing cell cycle arrest
What is the MOA of penicillin
ADME
What are common side effects of all penicillins
6
Penicillins are a beta lactam bactericidal and act by interfering with bacterial cell wall synthesis by inhibiting cross linking of cell wall leading to lysis
They diffuse well into body tissues and fluids but penetration into cerebrospinal fluid is poor except when meninges are inflamed, they are excreted in urine in therapeutic concentrations
Diarrhoea, hypersensitivity, nausea, vomiting, skin reactions, thrombocytopenia
Benzylpenicillin
MOA
ADME
Common side effects
2
Narrow spectrum bactericidal against gram + bacteria
Ineffective against many infections as most staph aureus bacteria now produce beta lactamase
A: IV or IM due to poor oral absorption as broken down by low stomach pH
M: 16-30% IM dose metabolised to penicilloic acid and small amounts to 6 aminopenicillanic
Fever, jerisch herxheimer reaction
Phenoxymethylpenicillin (Penicillin V)
MOA
ADME
Oral indications
Narrow spectrum bactericidal against gram + bacteria
Ineffective against many infections as most staph aureus bacteria now produce beta lactamase
A: usually administered orally as acid stable
M: 35-70% oral dose metabolised to penicilloic acid which is an inactive metabolite with small amounts metabolised to 6 aminopenicillanic acid
Dental abscesses
Flucloxacillin
MOA
A beta lactamase resistant bactericidal drug against gram + bacteria
Altered structure prevents inactivation by resistant bacteria producing beta lactamase
Amoxicillin
MOA
ADME
Dental implications (2)
Amoxicillin is a broad spectrum bactericidal drug against gram + and some gram -ve bacteria
It is inactivated by beta lactamase producing gram positive bacteria
A: oral route
M: metabolised to 7 metabolites in liver
E: kidneys
Dental abscess, pericoronitis
What is co amoxiclav
MOA
Co amoxiclav is a combination of amoxicillin, a beta lactam antibiotic and potassium clavulanate which is a beta lactamase inhibitor