Category

6
61
Consequences of a mutation on RAG proteins
Looks at consequences of a mutation in RAG proteins
Thomas Lemon
almost 8 years ago

2
75
Cystic Fibrosis (CF)
This is the most common life-limiting inherited disease in Caucasians. It is caused by a genetic mutation that alters mucus production, resulting in a more viscous solution. It is autosomal recessive. Life expectancy is improving. Newborns with CF have a life-expectancy of about 40 years. The condition is inherited in an autosomal recessive pattern. Epidemiology Most common in Caucasians, rare in other races.
almostadoctor.com - free medical student revision notes
almost 7 years ago

2
67
Chromosomal Abnormalities
Chromosomal Abnormalities Chromosomal abnormalities are a very common cause of spontaneous miscarriage. Most commonly a child with a chromosomal abnormality will not survive to birth. However, there are many cases where the child will survive, although often they have severe disability in life. The normal rate of miscarriage in the general population is 15%. Miscarriage does not become statistically significant unless one particular woman has >3 instances.
almostadoctor.com - free medical student revision notes
almost 7 years ago

2
53
Leukemia pathophysiology
Sometimes an immature blast cell have two gene mutations which prevent it from maturing into a specialized blood cell and cause it to multiply out of control...
YouTube
over 6 years ago

2
74
HIV: Mechanisms of NNRTI Resistance
This animation describes how mutations acquired by the HIV reverse transcriptase enzyme can effectively prevent NNRTI medicines from being able to bind to it...
YouTube
over 6 years ago

2
70
Cell Division, Cancer | Learn Science at Scitable
Cancer is somewhat like an evolutionary process. Over time, cancer cells accumulate multiple mutations in genes that control cell division. Learn how dangerous this accumulation can be.
nature.com
about 6 years ago

1
29
Thought Leader Round Table: Drs Laskin and Sandler, Part 1 (audio)
Lung cancer experts Janessa Laskin and Alan Sandler sit down with medical oncologist Jack West to discuss complex cases. Focus on never-smokers and EGFR mutation testing.
Howard (Jack) West, MD
over 10 years ago

1
24
Thought Leader Round Table: Drs Laskin and Sandler, Part 1 (video)
Lung cancer experts Janessa Laskin and Alan Sandler sit down with medical oncologist Jack West to discuss complex cases. Focus on never-smokers and EGFR mutation testing.
Howard (Jack) West, MD
over 10 years ago

1
17
VPC1 2009 | Case 4
ResearchToPractice.com/VPC109 - Case 4: A 61-year-old woman with a 1.5-cm, K-ras mutation-positive, biopsy-proven metastasis to the lung 3.5 years after resection and chemoradiation therapy for rectal cancer. Interviews conducted by Neil Love, MD. Produced by Research To Practice.
Dr Neil Love
over 10 years ago

1
22
Explanation slides Somatic Mutations cancer
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Somatic Mutations in Cancer Thi…
Nicole Chalmers
almost 7 years ago

1
30
Haemophilia A
X-linked recessive condition, deficiency of factor VIII, prevalence 1 in 10,000 Range of possible mutations, 30% of cases due to sporadic mutation Low factor VIII levels predispose to bleeding – risk proportional to factor VIII level Mild disease (11-30 units/dl) risk after significant trauma/surgery Moderate disease (2-10 units) - minor trauma
almostadoctor.com - free medical student revision notes
almost 7 years ago

1
50
Neurofibromatosis
There are two types of neurofibromatosis, both inherited in an autosomal dominant manner, although some cases arise from spontaneous mutation. It results in benign tumours of the nervous system and bony and dermatological deformities. Type I Neurofibromatosis – NF1 – aka von Recklinghausen’s disease
almostadoctor.com - free medical student revision notes
almost 7 years ago

1
20
Fragile X Syndrome (Martin-Bell Syndrome)
So called as there is a ‘fragile site’ on the X chromosome. This is a non-staining, weakened section of the chromosome which is susceptible to breaking. It is an example of a trinucleotide expansion mutation, but is usually inherited in an X-linked recessive pattern. Fragile X syndrome is the second most common cause of genetic learning difficulty after Down’s Syndrome.
almostadoctor.com - free medical student revision notes
almost 7 years ago

1
45

1
42
Effects of Cancer 1
Discuss the effects of cancer, as they relate to the underlying cell physiology. In particular, we discuss how genetic mutations lead to the creation of aber...
YouTube
over 6 years ago

1
11