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CongenitalAbnormalities

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Cardiovascular Embryology and Congenital abnormalities

A revision powerpoint that covers the various embrylogical processes that take place in the developing embryo, and the consequences when they go wrong  
Francesca Boffey
over 8 years ago
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171

World Down Syndrome Day #DearFutureMom

A heartwarming message from 15 people with Down syndrome to a future mom.  
YouTube
over 5 years ago
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Charcot’s Joint

Monoarthritis This is a neuropathic arthropathy it is a progressive degeneration of a weight bearing joint – usually in the ankle. There is usually bone destruction, remodelling and resorption, with ultimately results in deformity. Usually gradual slow onset Can also result in ulceration  
almostadoctor.com - free medical student revision notes
over 5 years ago
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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
over 5 years ago
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Pericarditis

The normal pericardium This contains about 50ml of fluid, and help lubricate the movement of the heart. It helps to: Limit distension of the heart Protect the heart from infection / damage Aids the filling of the ventricles However – congenital defects of the pericardium do not appear to have much impact on heart function.   Acute Pericarditis Causes  
almostadoctor.com - free medical student revision notes
over 5 years ago
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Hirschsprung’s Disease

A congenital abnormality, whereby there is improper innervation of the large intestine, extending from the rectum, sometimes proximally into the colon. Epidemiology Male predominance   Aetiology 30% of cases have a FH Several genes have been identified, one of which is on the X chromosome, and thus may explain the male predominance.  
almostadoctor.com - free medical student revision notes
over 5 years ago
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Summary of Congenital Cardiac Abnormalities

Cardiac abnormalities in children are predominantly congenital. Cardiac abnormalities are the largest group of congenital defects   Epidemiology 8 per 1000 children have a significant congenital cardiac abnormality 1 in 10 still births have a cardiac abnormality 10-15% of cases have more than one abnormality  
almostadoctor.com - free medical student revision notes
over 5 years ago
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Talipes Equinovarus (Club Foot)

Talipes equinovarus is a deformity of the foot and ankle commonly found at birth (the foot is fully plantar-flexed and there is midtarsal adduction causing a varus deformity). It is estimated to affect 1 in 1000 births in the UK. Boys are twice as likely to be affected as girls. The cause of the deformity is not completely clear however it is speculated that it is due to mechanical pressure in utero. There also appears to be a genetic link.    
almostadoctor.com - free medical student revision notes
over 5 years ago
Www.bmj
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The danger in the next big thing

What is the next big thing? How do we know it when we see it? Is it the burger flipping robot that creates 360 different varieties of burger? What would such burgers taste like? It might be the 3D printing technology that is heralded as part of a new industrial revolution (doi:10.1136/bmj.g2963). Our picture of the week, inevitably rendered in glorious two dimensions, is a plastic skull created with 3D printing and used in an operation in a Dutch hospital. However, this plastic skull is not to be confused with helmets that don’t seem to work in the treatment of infant skull deformities (doi:10.1136/bmj.g2741, doi:10.1136/bmj.g2906).  
bmj.com
over 5 years ago
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Are pesticides linked to health problems in Argentina? - BBC News

Could pesticides - their use and abuse - increase levels of cancer and birth defects? It is a question asked across the vast belt of Argentina where GM crops are grown.  
BBC News
over 5 years ago
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Internal medicine on Instagram: “Psoriatic arthritis X-ray of the wrist of a patient with psoriatic arthritis; note the 'pencil in cup' deformity (tapered proximal osseous…”

“Psoriatic arthritis X-ray of the wrist of a patient with psoriatic arthritis; note the 'pencil in cup' deformity (tapered proximal osseous surface and…”  
Instagram
about 5 years ago
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Down Syndrome Clinical Presentation: History, Physical Examination, Complications

Down syndrome is by far the most common and best known chromosomal disorder in humans and the most common cause of intellectual disability. It is characterized by intellectual disability , dysmorphic facial features, and other distinctive phenotypic traits.  
emedicine.medscape.com
about 5 years ago
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Down Syndrome

What is Down syndrome? Down syndrome is a developmental disorder caused by an extra copy of chromosome 21 (which is why the disorder is also called "trisomy 21"). Having an extra copy of this chromosome means that each gene may be producing more protein product than normal. Cells seem to tolerate this better than having…  
Human Anatomy and Physiology
about 5 years ago
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The development of the gastrointestinal tract

Animation is derived from Keith L. Moore, T.V.N. Persaud, Mark G. Torchia, "Before We Are Born: Essentials of Embryology and Birth Defects".  
YouTube
about 5 years ago
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Examination of the elbow | Arthritis Research UK

Begin with looking at the patient from the front for the normal carrying angle, and from the side for any flexion deformity. The posterior aspect of the elbow is inspected for obvious scars, swellings, rashes or signs of olecranon bursitis, or rheumatoid nodules or psoriatic plaques and, again, the medial aspect should also be inspected. Temperature is assessed by comparing adjacent sites.  
arthritisresearchuk.org
almost 5 years ago
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Examination of the knee | Arthritis Research UK

Look initially from the end of the bed for loss of symmetry and loss of normal leg alignment such as varus deformity – where distal to the knee is deviated medially leading to a bow-legged appearance – or valgus deformity – where distal to the knee is deviated laterally leading to a knock-kneed appearance.  
arthritisresearchuk.org
almost 5 years ago
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The Diabetic Foot Exam

An overview and demonstration of the diabetic foot exam, including inspection for common deformities, evaluation of vascular supply, and screening for neurop...  
YouTube
almost 5 years ago
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The Diabetic Foot Exam

An overview and demonstration of the diabetic foot exam, including inspection for common deformities, evaluation of vascular supply, and screening for neurop...  
YouTube
over 4 years ago
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Food that help improve Down Syndrome in infants.

I've heard some researches found that food nutrients can improve some genetic diseases. I need to know what kind of food that help improve Down Syndrome in infants.  
Kala Young
over 6 years ago