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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
almost 9 years ago
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172

World Down Syndrome Day #DearFutureMom

A heartwarming message from 15 people with Down syndrome to a future mom.  
YouTube
almost 6 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
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
almost 6 years ago
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A Modest Man

The registrar's face was taking on a testy look. So enduring was the silence our furtive glances had developed a nystagmic quality. “Galactosaemia” came her peremptory reply. Right on queue the disjointed chorus of ahs and head nods did little to hide our mental whiteboard of differentials being wiped clean. At the time conjugated bilirubinaemia in children only meant one thing: biliary atresia. A fair assumption; we were sitting in one of three specialist centres in the country equipped to treat these patients. Ironically the condition has become the unwieldy yardstick I now measure the incidence of paediatric disease. Biliary atresia is the most common surgical cause of neonatal jaundice with a reported incidence of 1 in 14-16ooo live births in the West. It is described as a progressive inflammatory obliteration of the extrahapatic bile duct. And Dr Charles West, the founder of Great Ormond Street Hospital, offers an eloquent description of the presenting triad of prolonged jaundice, pale acholic stools and dark yellow urine: ‘Case 18...It was born at full term, though small, apparently healthy. At 3 days however, it began to get yellow and at the end of 3 weeks was very yellow. Her motions at no time after the second day appeared natural on examination, but were white, like cream, and her urine was very high coloured.’ 1855 was the year of Dr West's hospital note. An almost universally fatal diagnosis and it would remain so for the next 100 years. The time's primordial classification of biliary atresia afforded children with the 'noncorrectable' type, a complete absence of patent extrahepatic bile duct, an unfortunate label; they were beyond saving. Having discovered the extent of disease at laparatomy, the surgeons would normally close the wound. The venerable Harvardian surgeon, Robert E. Gross saved an enigmatic observation: “In most instances death followed a downhill course…” K-A-S-A-I read the ward’s board. It was scrawled under half the children's names. I dismissed it as just another devilishly hard acronym to forget. The thought of an eponymous procedure had escaped me and in biliary atresia circles, it's the name everyone should know: Dr Morio Kasai. Originating from Aomori prefecture, Honshu, Japan, Dr Kasai graduated from the National Tohoku University School of Medicine in 1947. His ascension was rapid, having joined the 2nd department of Surgery as a general surgeon, he would assume the role of Assistant Professor in 1953. The department, under the tenure of Professor Shigetsugu Katsura, shared a healthy interest in research. 1955 was the landmark year. Katsura and Kasai operated on their first case: a 72 day old infant. Due to bleeding at the incised porta hepatis, Katsura is said to have 'placed' the duodenum over the site in order to staunch the flow. She made a spectacular postoperative recovery, the jaundice had faded and there was bile pigment in her stool. During the second case, Katsura elected to join the unopened duodenum to the porta hepatis. Sadly the patient's jaundice did not recover, but the post-mortem conducted by Kasai confirmed the development of a spontaneous internal biliary fistula connecting the internal hepatic ducts to the duodenum. Histological inspection of removed extrahepatic duct showed the existence of microscopic biliary channels, hundreds of microns in diameter. Kasai made a pivotal assertion: the transection of the fibrous cord of the obliterated duct must contain these channels before anastomosis with the jejunal limb Roux-en-Y loop. This would ensure communication between the porta hepatis and the intrahepatic biliary system. The operation, entitled hepatic portoenterostomy, was first performed as a planned procedure for the third case at Tohoku. Bile flow was restored and Kasai published the details of the new technique in the Japanese journal Shujutsu in 1959. However, news of this development did not dawn on the West until 1968 in the Journal of Pediatric Surgery. The success of the operation and its refined iterations were eventually recognized and adopted in the 1970s. The operation was and is not without its dangers. Cholangitis, portal hypertension, malnutrition and hepatopulmonary syndrome are the cardinal complications. While diagnosing and operating early (<8 weeks) are essential to the outcome, antibiotic prophylaxis and nutritional support are invaluable prognostic factors. Post operatively, the early clearance of jaundice (within 3 months) and absence of liver cirrhosis on biopsy, are promising signs. At UK centres the survival after a successful procedure is 80%. The concurrent development of liver transplantation boosts this percentage to 90%. Among children, biliary atresia is the commonest indication for transplantation; by five years post-Kasai, 45% will have undergone the procedure. On the 6th December 2008, Dr Kasai passed away. He was 86 years old and had been battling the complications of a stroke he suffered in 1999. His contemporaries and disciples paint a humble and colourful character. A keen skier and mountaineer, Dr Kasai lead the Tohoku University mountain-climbing team to the top of the Nyainquntanglha Mountains, the highest peaks of the Tibetan highlands. It was the first successful expedition of its kind in the world. He carried through this pioneering spirit into his professional life. Paediatric surgery was not a recognized specialty in Japan. By founding and chairing multiple associations including the Japanese Society of Pediatric Surgeons, Dr Kasai gave his specialty and biliary atresia, the attention it deserved. Despite numerous accolades of international acclaim for his contributions to paediatric surgery, Dr Kasai insisted his department refer to his operation as the hepatic portoenterostomy; the rest of the world paid its originator the respect of calling it the ‘Kasia’. Upon completion of their training, he would give each of his surgeons a hand-written form of the word ‘Soshin’ [simple mind], as he believed a modest surgeon was a good one. At 5 foot 2, Kasai cut a more diminutive figure one might expect for an Emeritus Professor and Hospital Director of a university hospital. During the course of his lifetime he had developed the procedure and lived to see its fruition. The Kasia remains the gold standard treatment for biliary atresia; it has been the shinning light for what Willis J. Potts called the darkest chapter in paediatric surgery. It earned Dr Kasai an affectionate but apt name among his peers, the small giant. References Miyano T. Morio Kasai, MD, 1922–2008. Pediatr Surg Int. 2009;25(4):307–308. Garcia A V, Cowles RA, Kato T, Hardy MA. Morio Kasai: a remarkable impact beyond the Kasai procedure. J Pediatr Surg. 2012;47(5):1023–1027. Mowat AP. Biliary atresia into the 21st century: A historical perspective. Hepatology. 1996;23(6):1693–1695. Ohi R. A history of the Kasai operation: Hepatic portoenterostomy for biliary atresia. World J Surg. 1988;12(6):871–874. Ohi R. Morio Kasai, MD 1922-2008. J Pediatr Surg. 2009;44(3):481–482. Lewis N, Millar A. Biliary atresia. Surg. 2007;25(7):291–294. This blog post is a reproduction of an article published in the Medical Student Newspaper, April 2014 issue.  
James Wong
almost 6 years ago
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DiGeorge syndrome

Looking for online definition of DiGeorge syndrome in the Medical Dictionary? DiGeorge syndrome explanation free. What is DiGeorge syndrome? Meaning of DiGeorge syndrome medical term. What does DiGeorge syndrome mean?  
medical-dictionary.thefreedictionary.com
over 4 years ago
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CONGENITAL ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM -- Verity et al. 74 (suppl 1): i3 -- Journal of Neurology, Neurosurgery & Psychiatry

Advances in genetics and molecular biology have led to a better understanding of the control of central nervous system (CNS) development. It is possible to classify CNS abnormalities according to the developmental stages at which they occur, as is shown below. The careful assessment of patients with these abnormalities is important in order to provide an accurate prognosis and genetic counselling.  
jnnp.bmj.com
over 4 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
almost 6 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
almost 6 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
almost 6 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
almost 6 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
almost 6 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 &#39;pencil in cup&#39; deformity (tapered proximal osseous surface and…”  
Instagram
over 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
over 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
over 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
about 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
about 5 years ago