Shared Flashcard Set

Details

Principles of Genetic Counseling
Spring 2017
24
Medical
Graduate
04/29/2017

Additional Medical Flashcards

 


 

Cards

Term
Williams Syndrome
Definition
- Micro-deletion syndrome (autosomal dominant, chromosome 7, encompasses elastin gene)

Clinical characteristics:
- Cardiovascular disease (pumonary stenosis)
- Connective tissue abnormalities
- Intellectual disabilities
- Over friendliness and anxiety
- Star-like pattern in eyes, broad forehead, shorter
- Hearing loss, and sensitivity to noise
- Endocrine abnormalities (hypercalcemia, hypothyroidism)
- Hoarse voice

- Risk of sudden death from heart defects
Term
DiGeorge Syndrome
Definition
- AKA, 22q, velocardiofacial syndrome
- A micro-deletion syndrome

Characteristics include:
- Heart defects (tetrology of fallot, vsd, etc)
- Facial features (cleft palate, underdeveloped chin, wide-set eyes)
- Decreased immune system
- Delayed growth, ID
- Behavioral and emotional problems
Term
Turner Syndrome
Definition
- Monosomy X
- The majority of conceptions are lost prenatally

Clinical characteristics:
- Small stature, shield-like chest, webbed neck
- High functioning but maybe some learning differences
- Infertility
- Cardiac problems are common!
Term
Ornithine Transcarbamylase (OTC) deficiency
Definition
- Inborn error of metabolism
- Urea cycle disorder. It results in the accumulation of ammonia in the blood since body can't remove nitrogen.
- X-linked

Clinical characteristics:
- Lethargy
- Seizures
- Vomiting
- Ongoing nerologic problems such as developmental delay, intellectual disability, ADHD
- Hyperammonemic coma (causes damage) and death possible

- Like other inborn errors of metabolism, can happen a few days after birth or be later onset. Often onset by stress.
- Protein restricted diet supplement essential amino acids
Term
Marfan Syndrome
Definition
- A disease that alters the connective tissues in the body
- Fibrillin-1 point mutation

Clinical characteristics:
- Long arms, legs, fingers
- Sunken or protruding chests
- Flat feet
- Cardiac issues such as aortic root dilation (or dissection) or mitral valve prolapse
- Ectopia lentis (dislocated lenses)
Term
Neurofibromatosis 1
Definition
- A disease that is characterized by spots on the skin
- Autosomal dominant, but 50% due to new mutations

Clinical characteristics:
- Dark spots on skin, small skin tumors called neurofibromas
- Lisch nodules, or benign growths in eyes
- Learning differences
- Malignancies happen about 10% of the time

- This disease is highly variable. For 2/3 of people it is a mild skin disorder. For about 1/12 it is life threatening.
Term
Phenylketonuria (PKU)
Definition
- Inborn error of metabolism
- Autosomal recessive

Clinical characteristics:
- Hyperphenylalaneinemia (body can't break down phenylalanine, so there is a lot in the blood)
- Microcephaly
- Epilepsy
- Severe mental delays
- Urine will have a mousy smell

- Manage the protien diet and supplement essential amino acids
Term
Osteogenesis Imperfecta (OI)
Definition
- A disease of improper bone formation
- Caused by mutations in the collagen forming genes
- Mostly autosomal dominant, some autosomal recessive

Clinical characteristics:
- Bones break easily
- Hearing loss
- Discolored sclerae (white part of the eye)
- A lot of variation, can be prenatal lethal or fairly mild
Term
Huntington Disease
Definition
Autosomal dominant neurodegenerative disease. Leads to problems with movement, emotion, and cognition.

Clinical features include:
- Jerky, involuntary movements
- Speech or swallowing difficulties
- Slowed thinking
- Irritibility, mania, OCD, anxiety, depression

Pre-symptomatic testing is available.

The disease is due to an unstable CAG repeat, which can expand in successive generations causing anticipation.
Term
Hemochromatosis
Definition
Autosomal recessive. A disease caused by excessive absorption of iron. Symptoms begin 40-60 (after menopause in women).

Clinical features include:
- Hepatomegaly (large liver)
- Cirrhosis of the liver
- Diabetes
- Arrhythmia
- Arthritis
- Skin pigmentation

Later stages can cause liver disease and heart failure. It can be treated by bleeding.

Carrier frequency in Caucasians 1/9 but penetrance varies.
Term
Early-Onset Familial Alzheimer's Disease
Definition
To be considered early onset, under age 65. Autosomal dominant. Makes up to 3-10% of Alzheimers.

Clinical features include:
- Confusion
- Memory loss, language deficits
- Agitation, withdrawal
- Hallucinations
- Seizures
- Increased muscle tone

Brain findings show increased B-amyloid plaque formation and intraneuronal neruofibrillary tangles.

There are gene panels, molecular testing, and predictive testing.
Term
Myotonic Dystrophy
Definition
Most common type of muscular dystrophy in adults. Autosomal dominant trinucleotide repeat disorder (has premutations and mutations, more common to inherit through mother).

Clinical features:
- Myotonia is sustained muscle contraction, so inability to loosen grasp
- Cataracts
- Fatigue, pain
- Cardiac complications
- Lower IQ
- Hypersomnia
- Anxiety, depression
- Inverted V -shaped upper lip, droopy eyelids

Prenatal and molecular testing available.
Term
MELAS
Definition
MELAS stands for Mitochondrial encephalomyopathy, lactic acidosis, and seizure-like episodes. Mitochondrial inborn error of metabolism.

Clinical features include:
- Seizures
- Recurrent headaches
- Stroke-like episodes (can lead to loss of motor skills or intellectual disability)
- Lactic acidosis
- Abdominal pain, vomiting
- Exercise intolerance, muscle weakness
- Difficulty breathing
- RAGGED RED FIBERS

Mutation in mitochondrial DNA, disrupts respiratory chain. Therefore, mitochondrial inheritance.

Variety due to HETEROPLASMY
Term
Young Onset Parkinson's Disease
Definition
If Parkinson's disease occurs before 50 it is considered young onset. In this case it is less likely to be multifactorially inherited and more likely to be due to a causative gene. These causative genes are numerous and can have any mode of inheritance.

Clinical features include:
- Motor symptoms like tremors, muscle rigidity, slow movement, involuntary movement
- Cognitive features like mood disorders, problems focusing, or hallucinations
- Other symptoms like pain, loss of sense of smell, or urinary urgency
- People with young onset Parkinsons will generally have more involuntary movement and fewer cognitive symptoms

Can be treated with replacement dopamine medication and therapies. Direct to consumer tests are available.
Term
MNGIE
Definition
Stands for mitochondrial neurogastrointestinal encephalopathy.

Clinical features include:
- Gastrointestinal issues (pain, vomiting)
- Neuropathy (numbness, pain in extremities)
- Hearing loss
- Leukoencephalopathy (white brain matter disease)
- Droopy eyelids

Even though this is a mitochondrial disease it is AUTOSOMAL RECESSIVE. It is caused by not being able to break down thymidine, which builds up and hurts mitochondria.

To test for it, you can test for Thymidine Phosporylase Enzyme Activity or the level of thymidine.
Term
CADASIL
Definition
Stands for Cerebral Autosomal Dominant Arteriopathy Subcortical Infaracts Leukoencephalopathy.

Clinical features include:
- Recurrent strokes
- Cognitive impairment
- Migraine with aura
- Psychiatric disturbances

Gene mutation causes smooth muscle cells on the walls of the arteries to break down. Progressive damage to blood vessels in the brain causes stroke and other symptoms.

Autosomal dominant, varies greatly. Genetic testing available.
Term
Southeast Asia Culture
Definition
History of conflict in the region and many patients may be refugees and/or have experienced trauma and loss

Very wide range of religious beliefs/practices, but beliefs about spiritual contributions to disease/treatment are common

Alternative medical practices are common,belief in “hot” and “cold” conditions and treatments

Many languages, may need a translator - consider gender and ethnicity when selecting a translator

Some common nonverbal Western practices (eye contact, touch) may be inappropriate, and nodding may not mean agreement
Term
Amish Culture
Definition
God’s will is important and valued

Likely to be stoic

English is a second language

Have self-insurance, so are likely to consider the community when making decisions

Children are a blessing no matter what

Do not prolong suffering/death is natural
Term
Chinese Culture
Definition
There is a lot of variety in Chinese culture, and many dialects.

There is usually a patriarchal structure and large families (clans). The welfare of the family comes first.

There is reluctance to talk about personal feelings.

Hereditary factors are well-accepted, but patients may want to combine Eastern and Western medicine.

Mothers may be blamed for birth defects.
Term
Jewish Culture
Definition
Many levels of Orthodoxy and involvement with the typical Jewish practices

Cultural Jewishness defined by mother

Avoid scheduling around holidays and Sabbath (no Friday/Saturday)

Pikuach Nefresh-health and life are of the uttermost importance even over cultural traditions/ceremonies

Dor Yeshorim (high prevalence of AR, so carrier status checked but not disclosed)
BRCA1/2 high prevalence
Term
Latino Culture
Definition
Typically speak Spanish, so an interpreter may be necessary

Mostly Roman Catholic. Use faith for reassurance. Forbid abortion and only use natural forms of birth control

Family is everything! Including the extended family. They will likely consult extended family when making decisions

Patriarchal. Mom takes care of the children.

Follow both folk healing & western medicine

Taught to avoid eye contact. And sit closer to you.

Low income, less education, many don’t have insurance
Term
Skeletal Dysplasias
Definition
Dwarf” and “Little Person” are preferred terms

Dwarfism is not considered a community, not a disability, even though access issues are considered a problem

Complicated relationship with genetics: it can help prevent lethal double dominant pregnancies, but also can be used to prevent dwarfism
Term
Visual Impairment
Definition
Not considered a culture

Visual aids/hand gestures/nonverbals may have little utility in a session

Generally support having option of genetic testing though some concerns about termination with prenatal testing

belief that quality of life is good enough that ToP not necessary but also often do not want to pass on to children
Term
Craniofacial Disorders
Definition
Surgeries are extensive - scary, intense, involved, and frequent

Confidence, self-esteem can be affected
Breathing, sleeping, speaking, eating, QOL affected by anatomy

Often have normal intelligence, just look different

Prenatal dx generally accepted and appreciated to prepare properly for birth
Supporting users have an ad free experience!