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MetabolicDiseases

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Birthday honours: Mitochondrial disease doctor recognised - BBC News

The doctor behind a groundbreaking IVF technique which prevents disabling genetic disorders from being passed on to future generations is knighted in the Queen's Birthday Honours list.  
bbc.co.uk
over 3 years ago
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Technique to eliminate mitochondrial disease carries very small risk of failure, researchers find

A team of researchers from Newcastle, UK, have described a new technique that may reduce the risk of serious inherited diseases, although they warned of a small risk that the procedure will fail.  
feeds.bmj.com
over 3 years ago
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Technique to eliminate mitochondrial disease carries very small risk of failure, researchers find

A team of researchers from Newcastle, UK, have described a new technique that may reduce the risk of serious inherited diseases, although they warned of a small risk that the procedure will fail.  
feeds.bmj.com
over 3 years ago
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Diabetes treatments and risk of amputation, blindness, severe kidney failure, hyperglycaemia, and hypoglycaemia: open cohort study in primary care

Objective To assess the risks of amputation, blindness, severe kidney failure, hyperglycaemia, and hypoglycaemia in patients with type 2 diabetes associated with prescribed diabetes drugs, particularly newer agents including gliptins or glitazones (thiazolidinediones).  
feeds.bmj.com
over 3 years ago
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Diabetes treatments and risk of amputation, blindness, severe kidney failure, hyperglycaemia, and hypoglycaemia: open cohort study in primary care

Objective To assess the risks of amputation, blindness, severe kidney failure, hyperglycaemia, and hypoglycaemia in patients with type 2 diabetes associated with prescribed diabetes drugs, particularly newer agents including gliptins or glitazones (thiazolidinediones).  
feeds.bmj.com
over 3 years ago
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Fatal Infantile Mitochondrial Disease With OPA1 Mutation

The authors establish a causal link between a pathogenic homozygous OPA1 mutation and human disease, emphasizing the vital role played by OPA1 in mitochondrial biogenesis.  
medscape.com
almost 4 years ago
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J-shaped Link Between Diabetes Duration and Depression

The degree of depression risk among individuals with diabetes may depend on the length of time they have suffered the metabolic disease, say scientists, who found a sharp increase in risk after 20 years.  
medscape.com
almost 4 years ago
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USMLE: Patient with hypocalcemia, QT, by usmlepoint

here I discussed imp topic for usmle examination again. how to differentiate from hypercalcemia. by usmlepoint SUBSCRIBE NOW: http://bit.ly/161OmbF  
youtube.com
about 4 years ago
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Improving Outcomes in Congenital and Acquired Lipodystrophy: Best Practices in Diagnosis and Management CME

This educational activity is targeted to an audience of endocrinologists and other healthcare providers involved in the diagnosis and management of the heterogeneous group of disorders referred to as lipodystrophy syndromes.  
medscape.org
about 4 years ago
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Branched-chain amino acids improve symptoms of hepatic encephalopathy | Cochrane

Hepatic encephalopathy is a brain dysfunction associated with liver disease. Cirrhosis, which is a condition where scar tissue (fibrosis) replaces the normal liver tissue, is the most common cause of hepatic encephalopathy. The severity of the symptoms range from minor signs to coma. The minor changes are known as minimal hepatic encephalopathy. Overt hepatic encephalopathy refers to the more severe stages with clinically apparent manifestations such as changes in the level of consciousness or neuropsychiatric abnormalities. Many people with cirrhosis lack amino acids, which are building blocks of proteins. The amino acids with a side-chain (a branch) are known as branched-chain amino acids (BCAA). The BCAA play an important part of the generation muscles and of the signalling chemicals in the brain. These effects may benefit people with hepatic encephalopathy.  
cochrane.org
about 4 years ago
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Wize Mirror to Monitor Health, Prevent Cardio-Metabolic Diseases |

Seasoned primary care physicians often have an uncanny ability to notice symptoms by simply looking at their patients. Skin tone, heart rate, and body temp  
medgadget.com
over 4 years ago
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Mitochondrial disease study raises hope of treatment - BBC News

US scientists say they have taken the first step towards treating people born with mitochondrial diseases.  
bbc.co.uk
over 4 years ago
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Oxford Handbook of Paediatrics

Now fully revised and updated with the latest guidelines, this new edition of the Oxford Handbook of Paediatrics is a compact guide to all aspects of acute and chronic paediatrics. The handbook's team of specialist contributors and editors have successfully condensed many years of clinical experience into a pocket-sized compendium of clinical problems and treatment options. Taking a child-centred approach to the subject, the authors have provided comprehensive coverage of areas such as neonatology, surgery, genetics and congenital malformations, and child protection in a user-friendly and succinct style. Sections are also devoted to covering the treatment of children in the community, and the psychological effects of illness on both the child and their family. All chapters have been updated for this new edition, with completely overhauled chapters on neurology and respiratory medicine, the latest management guidelines on inherited metabolic disease, further information on medical and research ethics, and enhanced usage of diagnostic and treatment algorithms. With practical advice and space for personalized notes, this handbook will be invaluable to all those involved in the care of the younger patient.  
books.google.co.uk
over 4 years ago
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Inborn Errors of Metabolism - emdocs

The crashing neonate: What could possibly go wrong? An updated review with pearls and pitfalls in the presentation, diagnosis, and management of inborn errors of metabolism  
emdocs.net
over 4 years ago
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The diagnosis and management of hypercalcaemia

The diagnosis of hypercalcaemia is made when the corrected serum calcium concentration is 2 standard deviations above the mean of values found in people with normal calcium levels, in at least two samples at least one week apart over a period of three months  
feeds.bmj.com
over 4 years ago
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The diagnosis and management of hypercalcaemia

The diagnosis of hypercalcaemia is made when the corrected serum calcium concentration is 2 standard deviations above the mean of values found in people with normal calcium levels, in at least two samples at least one week apart over a period of three months  
feeds.bmj.com
over 4 years ago
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Fecal Microbiota Transplant (FMT)

Fecal microbiota transplantation, as a microbiota-target therapy, is arguably very effective for curing Clostridium difficile infection and has good outcomes in other intestinal diseases. New insights have raised an interest in FMT for the management of extra-intestinal disorders associated with gut microbiota. This review shows that it is an exciting time in the burgeoning science of FMT application in C. Difficile infection and previously unexpected areas, including metabolic diseases, neuropsychiatric disorders, autoimmune diseases, allergic disorders, and tumors.  
speakerdeck.com
over 4 years ago
Deckfailcat
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fecal-microbiota-transplant

Fecal microbiota transplantation (FMT), as a microbiota-target therapy, is arguably very effective for curing Clostridium difficile infection and has good outcomes in other intestinal diseases. New insights have raised an interest in FMT for the management of extra-intestinal disorders associated with gut microbiota. This review shows that it is an exciting time in the burgeoning science of FMT application in C. Difficile infection and previously unexpected areas, including metabolic diseases, neuropsychiatric disorders, autoimmune diseases, allergic disorders, and tumors.  
speakerdeck.com
over 4 years ago
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Gene editing could prevent mitochondrial disease in children

Editing DNA in mouse egg cells has been used to remove faulty mitochondria, leaving only healthy ones behind to be inherited. It could offer an alternative to controversial three-parent IVF  
feeds.newscientist.com
over 4 years ago