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Post-Natal Care

A few useful definitions Term baby – between 37 – 41 weeks Pre-term baby – before 37 weeks Post term baby – after 42 weeks Neonate -  
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over 5 years ago
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Arteriovenous Malformations - AVMs | almostadoctor

The term AVM can be applied to arteriovenous malformations anywhere in the body, but most commonly refers to the abnormalities found in the brain.  
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over 5 years ago
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Charcot-Marie-Tooth Disease

 
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over 5 years ago
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Huntington's Disease

Huntington’s disease – HD - (aka Huntington’s chorea, named after George Huntington [1872]) is an autosomal dominant disorder that shows full penetrance. Treatment is supportive only   Epidemiology and Aeitiology Approximately affects 5-10 per 100 000 individuals  
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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  
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over 5 years ago
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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.    
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over 5 years ago
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Duchenne’s Muscular Dystrophy

This is a severe form of muscular dystrophy, and most boys do not survive past adolescence. It is an X-linked recessive condition. Typically affects skeletal muscles initially, but may later go on to affect the heart, and sometimes diaphragm.   Epidemiology Affects 1 in 3500 male boys The most common muscular dystrophy   Pathology    
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over 5 years ago
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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.    
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over 5 years ago
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Klinefelter's Syndrome (47,XXY)

This is the presence of an extra X chromosome in males to give (47,XXY).    Epidemiology 1 in 1000 male live births   Clinical features Usually diagnosed in childhood when there is: Clumsyness Learning difficulties (usually mild) Typically intellectual ability is reduced y 10-20 IQ points, but still within the normal range. More susceptible to behavioural and psychological problems.  
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over 5 years ago
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Turner's Syndrome (45, X)

 
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over 5 years ago
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Infant and Neonatal Nutrition

BreastFeeding General Info Breastfeeding is superior to bottle feeding and should always be encouraged It can be difficult to learn, and is best taught by an experienced health care professional, in a supporting environment It is best to breast feed as soon as possible – ie within minutes of birth. However: It is never too late to start as long as lactation is still occurring  
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over 5 years ago
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Neonatal Jaundice

 
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over 5 years ago
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ASD - Atrial Septal Defect

ASD – Atrial septal defect – L-to-R shunt – ACYANOTIC There are two types of ASD: Secundum ASD 80% of ASD’s Basically, a patent foramen ovale Partial AVSD  
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over 5 years ago
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Coarctation of the aorta

Coarctation of the aorta – L-to-R shunt – ACYANOTIC Accounts for up to 10% of congential heart defects Male:female ratio is 2:1 Affects 10-20% of patients with Turner’s Syndrome Almost always affects the thoracic aorta, virtually never the abdominal   Clinical features  
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over 5 years ago
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PDA - Patent Ductus Arteriosus

PDA – Patent Ductus Arteriosus – L-to-R shunt – ACYANOTIC Treatment Usually treated even if asymptomatic to reduce the risk of infective endocarditis  
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over 5 years ago
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VSD - Ventricular Septal Defect

 
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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.    
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over 5 years ago
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Androgen Insensitivity Syndrome: Background, Pathophysiology, Epidemiology

Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals. This failure of virilization can be either complete androgen insensitivity syndrome (CAIS) or partial androgen insens...  
emedicine.medscape.com
over 5 years ago
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Fetal and Neonatal BMJ Podcast

Have a listen to some excellent talks from May's Podcast Highlights.  
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over 5 years ago
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Non-parametric statistical tests for two independent groups: numerical data

Researchers described the outcomes at one year for a national cohort of infants with gastroschisis. A prospective cohort study design was used. Participants were 301 liveborn infants with gastroschisis between October 2006 and March 2008 from all 28 paediatric surgical centres in the United Kingdom and Ireland. The aim of the study was to describe outcomes at one year, comparing infants with simple gastroschisis (intact, uncompromised, and continuous bowel) with those with complex gastroschisis (bowel perforation, necrosis, or atresia). The main outcome measures included duration of parenteral nutrition and length of stay in hospital.1  
bmj.com
over 5 years ago