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Science Translation Medicine has just published groundbreaking research on spinal muscle atrophy (SMA.)


SMA is a set of inherited muscle diseases that cause muscle to continuously degenerate and weaken. The disease requires extensive and ongoing medical care. The disease process usually ends with death. In fact, SMA is one of the most common genetic causes of death in childhood. Sadly, there is no known cure or effective treatment.

The research by University of Sheffield demonstrated a novel gene transfer system that has the promise of efficient therapeutic treatment for SMA patients. I will let you read the research process below, but the approach has the possibility of establishing gene therapy with the use of just a single injection. 

It is important to note that test was conducted using animals, but these findings undoubtedly put science that much closer to actual gene therapy treatments for SMA patients.

Research in depth:

New therapy offers hope to Spinal Muscular Atrophy (SMA) patients

Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy

New Novel Gene Treatment For Spinal Muscular Atrophy

To donate to SMA: 

Spinal Muscular Atrophy Foundation

 To support legislative action:

Legislation to enhance federal support for Spinal Muscular Atrophy (SMA) research, The SMA Treatment Acceleration Act

 

I have never liked the idea of selective elective Cesarean deliveries. It is one thing if your health is at risk and you need to have a C-section early, but many parents are pressuring their OB provider to schedule early C-sections for convenience sake….for example,  a husband that works away and might miss the delivery.

Now comes a new study showing giving scientific backing as to why  selective elective Cesarean delivery is not really a wise thing to do.  It has been clear for a long time that extremely preterm babies, say 25 weeks gestation or so, have a much higher risk of special education needs. However, later term early deliveries, say 37-39 weeks gestation, have never been examined in relation to risk of special education needs.

The birth history of 400 thousand school aged children was  analyzed by Scottish researchers. They found that autism and or special education needs (dyslexia, poor vision, deafness, etc..) were 1.16 times greater for babies born at 37-39 weeks than those born at 40 weeks. 

Sources:
NHS: Early Babies and Special Needs

PLoS Medicine: Gestational Age at Delivery and Special Educational Need: Retrospective Cohort Study of 407,503 Schoolchildren

Medical News Today: Babies Born At 37 To 39 Weeks Have Higher Risk Of Autism And Special Educational Needs

Often parent's and medical professionals find the path to an autism diagnosis to be lengthy, difficult, and lacking in uniformity.  Medical professionals in the U.K. use a lengthy process of social interaction, communication, and imaginative skill testing to obtain a diagnosis.  Aside from this process taking sometimes years to complete, autism is often misdiagnosed as a different behavior related problem.  

This is unfortunate because we already know that early intervention can make a huge difference in how an autistic child is able to progress, and at what rate.

There may be a way to accelerate and solidify the autistic diagnostic process. Imagine if autism could be diagnosed before the child showed symptoms of it! Typical onset of autistic symptoms is between 1 and 5-years-old.  Read more.


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A simple urine test might just enable professionals to immediately identify children with autism and allow them to get that important early intervention. Researchers from Imperial College London and the University of South Australia have found that autistic children have different metabolic fingerprints in their urine than children without autism an non-effected children with autistic siblings.  Those with autism supposedly have a different makeup of bacteria in the gut. This is thought to be why many autistic people suffer from GI issues.

The National Autistic Society in Britain is skeptical of the accuracy of such a test, and the researchers admit that the method is still in the beginning phase of development . However, they are planning clinical trial studies with hundreds of children, and say that if the clinical trials go well, then the urine test could be available by 2015

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A new study that suggests eating high fat- high energy meals may not be wise for those with asthma. The Australian research will be presented to the American Thoracic Society ATS 2010 International Conference in New Orleans Louisiana on May 14th -19th. 

The number of asthma sufferers in western countries has been on the rise in recent years. Westernized diets now include much more fat that other parts of the world. For this reason, experts have tried to link environmental factors such as- diet as a contributing factor to asthma. Previous research has in fact shown that high fat diets do stimulate the immune system, thereby causing inflammation blood markers to be higher. However, this study is the first to look at how high fat meals particularly affect airway inflammation.


Dr. Lisa Wood, of the University of Newcastle, New South Wales, led the research. The research team monitored 40 asthma patients after they ate low fat low calorie meals vs. high fat high calorie meals. The high fat meals consisted of fast food burgers and hash browns, that totaled about 1,000 calories (50% fat.) The low fat meals consisted of reduced fat yogurt, that totaled about 200 calories (13% fat.) The researchers took sputum samples before the meal and four hours post meal to test for markers of inflammation. Within four hours of the consuming the high fat meals, those patients were showing signs of airway inflammation. The low fat meal patients were not showing any inflammation. The high fat meal also appeared to suppress the effectiveness of the asthma reliever, albuterol. 

Specifically the results showed marked increase in airway neutrophils and TLR4 mRNA gene expression and reduced bronchodilator response in the high fat/calorie meal patients.


It is important to remember that this is the first study ever done about high fat/high calorie meals in relation to asthma. Other studies are needed before we label this as “fact.” However, if future studies confirm this research, we may start seeing doctors use reduced fat / calorie dieting as an element in asthma treatment




American Thoracic Society ATS 2010 International Conference
Related news articles here and here

Those that suffer from neurological disorders such as- multiple sclerosis, cerebral palsy, spinal cord injury and amyotrophc lateral sclerosis (ALS) may benefit from cutting edge cell transplants.

There are unique cells that support and surround the neurons in the nose. They are known as olfactory ensheathing cells or OEC’s. OEC’s have the ability to regenerate and they are relatively easy to obtain. These factors make them prime for transplantations to repair  some lesions in the central nervous system.

The latest OEC research is related to cerebral palsy (CP). CP is a neurological disorder that appears from infancy to early childhood. CP is essentially a class of brain lesion caused by abnormal development, injury, etc.. It has permanent effects on muscle movement of the child.

The issue 19(2) Cell Transplantation publication contains research from transplanted OEC clinical trials done in China.  33 children and adolescents  with CP were involved in the study. According to the research, 83% of the children had abnormal radiological findings. White matter damage or shrinkage, tissue loss, inadequate or delayed myelination, glial scars, etc.. were observed.

OEC’s were injected into a key location in the frontal lobes of the brain- ie- “Key Point for Neural network Restoration (KPNNR)." The theory being that the injected OECs would produce Schwann cell-like myelin sheaths around demyelinated axons.

The results of the study are amazing, despite the small sample size of the research. Dr. Huang, concluded OEC KPNNR transplantation may be effective for functional improvement in CP children. "Our results showed that transplanting OECs into CP patients could improve the neurological function of the patients and did not cause significant side effects. The procedure may be a plausible method to treat this as yet incurable disorder."- Dr. Huang.

Read issue 19(2) Cell Transplantation publication here