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CongenitalAbnormalities

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Sister's quest for Down's Syndrome death inquest - BBC News

The sister of a woman with Down's Syndrome who died in hospital has gone to the High Court to try to overturn a coroner's decision not to allow a full inquest into her death.  
bbc.co.uk
over 4 years ago
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Reinforced Conduit Improves Infants' Outcomes Following Surgeries for Hypoplastic Left Heart Syndrome |

Hypoplastic left heart syndrome is a congenital defect typically treated by implanting a conduit between the right ventricle and pulmonary artery in infant  
medgadget.com
over 4 years ago
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Routine ultrasound in late pregnancy (after 24 weeks' gestation) to assess the effects on the infant and maternal outcomes | Cochrane

Ultrasound can be used as a clinical diagnostic tool in late pregnancy to assess the baby's condition when there are complications, or to detect problems which may not otherwise be apparent. If such problems are identified this may lead to changes in care and an improved outcome for babies. Carrying out scans on all women is however controversial. Screening all women may mean that the number of interventions is increased without benefit to mothers or babies. Although popular, women may not fully understand the purpose of their scan and may be either falsely reassured, or unprepared for adverse findings. Existing evidence shows that routine ultrasound, after 24 weeks' gestation, in low-risk or unselected women does not provide any benefit for the mother or her baby. Thirteen studies involving 34,980 women who were randomly selected to screening or a control group (no or selective ultrasound, or ultrasound with concealed results) contributed to the review. The quality of trials was satisfactory. There were no differences between groups in the rates of women having additional scans, antenatal admissions, preterm delivery less than 37 weeks, induction of labour, instrumental deliveries or caesarean section. Babies’ birthweight, condition at birth, interventions such as resuscitation, and admission to special care were similar between groups. Infant survival, with or without congenital abnormalities, was no different with and without routine ultrasound screening in late pregnancy. None of the trials reported on the effect of routine ultrasound in late pregnancy on preterm birth less than 34 weeks, maternal psychology or mental development of babies when two years old.  
cochrane.org
over 4 years ago
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Canvassing support: Helping children with clubfoot - BBC News

Clubfoot is one of the world's most common birth defects and up to 80% of children born in developing countries with the condition go untreated. Now a new design aims to get them back on their feet.  
bbc.co.uk
over 4 years ago
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Pioneering chest deformity op carried out at Cardiff hospital - BBC News

Cardiff's University Hospital of Wales becomes the UK's first to offer a new treatment for patients with chest deformities thanks to a pioneering surgeon.  
bbc.co.uk
over 4 years ago
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Preconception health programs and interventions for women who are overweight or obese to improve pregnancy outcomes for the woman and her infant | Cochrane

Being overweight or obese, or having a high body weight for one's height, is becoming increasingly common among women of reproductive age. General health conditions such as high blood pressure, diabetes, sleep apnoea (pauses or reduced breathing during sleep), and polycystic ovary syndrome (PCOS), which can cause reduced fertility or failure to achieve pregnancy, are associated with being overweight or obese. During pregnancy, overweight women are at increased risk of sugar intolerance (gestational diabetes), pregnancy-related high blood pressure, losing a pregnancy (miscarriage), birth before some 40 weeks (preterm birth) and congenital birth defects such as neural tube and heart defects, and gastrointestinal malformations. Women who are overweight or obese are also at a higher risk of complications during labour including heavy blood loss after giving birth. Current guidelines about which preconception health programs or interventions are of benefit to reduce these adverse health outcomes are needed for overweight and obese women.  
cochrane.org
over 4 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).  
feeds.bmj.com
over 4 years ago
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Yorkshire Foot and Ankle Clinic

Specialising in all aspects of foot and ankle surgery Sports injuries Deformity correction Hallux valgus (bunion) surgery Tendon repairs Ligament reconstruction Joint replacement Arthroscopic (keyhole) surgery Minimally invasive surgery Revision surgery  
yorkshirefootandankleclinic.com
over 4 years ago
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Premature births are blamed for high death rate in UK’s under 5s compared with Sweden

The death rate in preschool children in the United Kingdom is almost twice as high as in Sweden, and the most common causes are complications after premature birth, congenital abnormality, and infection, says a study published online by the Archives of Disease in Childhood.1  
feeds.bmj.com
over 4 years ago
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Oesphageal atresia and tracheo-oesophageal fistula - NHS Choices

Oesophageal atresia is a rare birth defect that affects a baby's oesophagus (the tube through which food passes from the mouth to the stomach).  
nhs.uk
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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Understanding the Causes of Major Birth Defects

The causes of the majority of birth defects remain unknown, but for some, there are successful routes to prevention.  
medscape.com
about 4 years ago
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Medications for cognitive decline in people with Down syndrome | Cochrane

People with Down syndrome often experience cognitive decline (a deterioration in memory, language, thinking and judgment that are greater than normal age-related changes) at a younger age and in greater numbers than the general population. Various medicines have been shown to improve, or at least slow down the progression of these symptoms in people without Down syndrome.  
cochrane.org
about 4 years ago
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Interventions for metabolic bone disease in children with chronic kidney disease | Cochrane

Chronic kidney disease (CKD) resulting in reduced kidney function and the need for dialysis and kidney transplant is associated with abnormalities in serum calcium and phosphorus levels leading to high levels of the parathyroid hormone (PTH) and to bone disease. This may result in bone deformities, bone pain, fractures and reduced growth rates. Commonly used treatments (vitamin D compounds and phosphate binders) aim to prevent or correct these outcomes. However, these treatments may raise levels of blood calcium, allow calcium and phosphorus deposition in blood vessels and lead to early cardiovascular disease, which is known to be a problem in adults with CKD.  
cochrane.org
about 4 years ago
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Birth Defect Rates High in Youth-Onset Type 2 Diabetes Pregnancies

Retrospective data from a large study of type 2 diabetes in youth show high pregnancy rates despite counseling, with a "strikingly" high rate of congenital anomalies.  
medscape.com
about 4 years ago
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Laparoscopic Cholecystectomy in a Situs Inversus Patient

Laparoscopic cholecystectomy is very challenging in patients with situs inversus. Read about techniques that can facilitate successful completion of this operation.  
medscape.com
about 4 years ago
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Imaging Case of the Week 182

These knee x-rays are from a 30 year old who developed severe left knee pain and deformity following an MVA. What can be observed?  
emergucate.com
about 4 years ago
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Hospital sorry for 'do not resuscitate' order on patient with Down's Syndrome - BBC News

A hospital trust apologises for placing a "do not resuscitate" order on a patient with Down's Syndrome, and listing his learning difficulties among the reasons.  
bbc.co.uk
about 4 years ago
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Zika Virus Spreading in Latin America, Raising Concerns

Mosquitoes are transmitting Zika virus in Brazil and raising concerns about associated birth defects.  
medscape.com
about 4 years ago