Diacetyl Involved In Causing Alzheimer’s Disease

According to a study published in the journal Chemical Research in Toxicology, a common diet ingredient, diacetyl, is involved in causing Alzheimer’s disease. This ingredient is found in a wide range of products such as popcorn, baked foods, candy, and it is used to give flavor to these foods. In fact, diacetyl found in these foods is not itself, but chronic exposure to this ingredient in the food industry. According to the study, exposure to diacetyl in the long run leads to neuronal toxicity.

Alzheimer’s Disease

Diacetyl, or 2,3-butanedione, is a natural result of fermentation and is found in alcoholic beverages. It can be used as a food additive in certain foods to enhance flavor. So far it was discussed the possible role  of diacetyl in respiratory infections. It was  noted that workers with chronic exposure to diacetyl have developed bronchiolitis obliterans. Interestingly, the respiratory disease occurred in healthy young men.

Now, a group of researchers led by Robert Vince and colleagues Swati More and Ashish Vartak, noted that diacetyl is involved in causing Alzheimer’s disease. It appears that diacetyl favors aggregation of beta amyloid plaques in the brain. Beta amyloid is a marker protein of Alzheimer’s disease. Furthermore, researchers found that diacetyl increases toxicity of beta amyloid on neurons. Moreover, according to research, diacetyl is resistant to a protein (glyoxalase I) that  is involved in detoxification of harmful products and prevent beta amyloid clumping. Researchers said that: “In light of the chronic exposure of industry workers to DA, this study raises the troubling possibility of long-term neurological toxicity mediated by DA” .

Alzheimer disease is the most common form of dementia in the elderly persons. There are two forms of Alzheimer’s disease: a form of early onset, more rare and which occurs in families, and late-onset form, the most common and which occurs sporadically. Alzheimer’s disease occurs primarily through forgetfulness. Once that occurs, the disease progresses and cognitive function can not be recovered. Other events that may appear are irritability, confusion, impaired perception, speech problems, etc.. There are several assumptions underlying Alzheimer’s disease: cholinergic hypothesis, which holds that Alzheimer’s is caused by a decreased synthesis of acetylcholine, a neurotransmitter. Amyloid hypothesis holds that Alzheimer’s disease is caused by deposits of beta amyloid. Finally, tau protein hypothesis supports the idea that Alzheimer disease is caused by neurofibrillary tangles ( that develop inside neurons). Also, there are studies sustaining that  some metals such as aluminum are involved in the Alzheimer’s disease pathogenesis.

Samsung Galaxy S3, S2 and Note to get Android 4.1 Jelly Bean update in Q3-Q4

Android 4.1 Jelly Bean

So far with no worthy competitor, the Samsung Galaxy S3 smartphone is the finest piece of technology on the market, but the handset is still powered by Andoid 4.0 Ice Cream Sandwich fact which many consider a waste of fine hardware. It is not a new thing, and I am sure that we were all unofficially  introduced to various Jelly Bean builds for the Samsung devices that also include a CyanogenMod 10 preview ROM, despite Samsung’s retention to officially announce the Andoid version 4.1 for Samsung Galaxy S3 for example.

On the other hand there are still many Samsung devices that are crying for Jelly Bean, such as the Samsung Galaxy S2, the Galaxy Note and Galaxy Note 2, but despite this obvious need, Samsung has not announced any Jelly Bean rollout schedule for these gadgets. Sam Mobile has some interesting details regarding each gadget, but to be sure one hundred percent we obviously have to wait for the Samsung company to officially confirm them.

Samsung Galaxy S3

According to Sam Mobile, the Galaxy S3 Jelly beam firmware testing has been completed, and now Samsung is hard at work in creating a Jelly Bean version for the public. Samsung is somehow also confirming this fact by stating that the delay is due to the need of Google agreement. If we also add to the equation the carrier involvement, you will soon see why Q3 or Q4 is a very plausible release date for the Samsung Galaxy S3 Jelly Bean.

Galaxy S2

From my point of view this is the part where the report gets very interesting as the publications suggests that the Samsung Galaxy S2 will not get the Jelly Bean update. The 4.1 version of Android is still in the testing phase when it comes to Galaxy S2, and the first results are promising. But not so promising is the next quote :  “If Samsung decides at the last moment not to update the Galaxy S II, all Galaxy S II owners will get a value pack update. But so far there is no reason not to update the Galaxy S II to Android 4.1.“

The question remains: will Samsung have the  courage not to update the Samsung Galaxy S2 to the 4.1 Andorid Jelly Bean? Unhappy customers means less profit eventually.

Samsung Galaxy Note

There is not much to add when it comes to the Galaxy Note Jelly Bean update. The process is very similar with what we talked at Galaxy S2. The testing phase up to this potin is going well, but no one can tell for sure if this won’t change in the near future. The Galaxy note will probably get its Jelly Bean update in Q4

Samsung Galaxy Note 2

Samsung’s next generation of tablets will probably be unveiled on August 29, a few day before the IFA 2012. If we think that Samsung is very hurried to unveil its tablet before the ‘Iphone 5’ it won’t be a surprise for us to see this tablet running an 4.0.x version of Android with an update that will come in Q4.

Kidney Cancer Vaccine

After being tested in phase 1 and 2 clinical trials, the first therapeutic vaccine for renal cell carcinoma has been shown to increase survival rates. According to a study published in Nature Medicine,  IMA901  vaccine had promising results in patients with renal cell carcinoma. In addition the researchers found biomarkers that might help select patients who respond best to this kind of treatment option.

Renal cell carcinoma (hypernephroma) is the most common kidney cancer  derived from cells that form proximal convoluted tubules . Classic symptoms of kidney cancer consist of hematuria, flank pain and presence of back abdominal mass. There are of course other symptoms that accompany the presence of kidney cancer, such as varicocele, which is caused by renal vein compression, hypertension (which occurs when there is a high level of renine), weight loss without apparent cause, anorexia, anemia (which occurs because of erythropoietin deficiency) etc..

Kidney Cancer

The causes of renal cell carcinoma are multiple. Some believe that a risk factor is  occupational exposure to cadmium, asbestos and polycyclic aromatic hydrocarbons. Others believe that hypertension or chronic treatment with NSAIDs increase the risk of renal cell carcinoma. The prognosis of this cancer varies with tumor stage. In stage 1 renal cell carcinoma has a survival rate of 90% at 5 years, while in stage 4, the 5-year survival rate drops dramatically to 5-10%. Metastases occur most frequently in lymph nodes, liver, lung, bone and brain and are of course associated with low survival rates.

Treatment of renal cell carcinoma consists of surgical resection (nephrectomy) and other adjuvant therapies. Unfortunately, radiotherapy and chemotherapy bring little benefit. Radiotherapy is sometimes used to relieve pain when patients have bone metastases. Therefore, researchers focused on the development of other treatment therapies ( biologic therapies, immunotherapy etc). Treatment with interleukin-2 has proven useful in certain patients, but has many side effects: increased risk of infection, thrombocytopenia, vomiting, diarrhea, etc. cardiac arrhythmias. Immunotherapy, however,  is extensively studied and could become standard treatment for certain cancers.

IMA901 vaccine is a therapeutic vaccine consisting of multiple tumor-associated peptides. These peptide antigens are actually found on the surface of tumor cells and were found in large amounts in patients with renal cell carcinoma. Once recognized by immune system cells, tumor cells are destroyed. Also, researchers have observed the presence of two markers that could predict the response to this treatment. Apolipoprotein AI (APOA1) and chemokine (CC motif) ligand 17 (CCL17) are biomarkers that predict both immune response and survival duration.

Although results are promising after the first two phases of clinical trials, IMA901 vaccine has to be tested in phase 3 clinical trials in order to released.

Huntington Disease

Huntington disease or chronic chorea is a degenerative disease, with genetic determination, transmitted autosomal dominant with complete penetrance. Genetic defect is located on chromosome 4 and is represented by the gene that encodes huntigtin, a cytomplasmatic protein with unknown function, but the central nervous system cells suffer when the levels of this protein are increased. Huntington disease was first described in 1872 by George Huntington and is an incurable disease that occurs in adults, being characterized by involuntary movements, behavioral changes and dementia that develop gradually.

Huntington disease becomes clinically symptomatic at the age of 35-40 years and until now there is no diagnostic test which can detect the disease in the asymptomatic stage. Family history is the main identifiable risk factor.

Neurological changes in Huntington disease are represented by neostriatum atrophy (caudate nucleus and putamen), frontal cortex and temporal cortex atrophy accompanied by neuronal loss and astrogliosis. Other brain structures including the globus pallidus, thalamus, subthalamic nucleus, substantia nigra, and cerebellum may present varying degrees of atrophy.

Huntington Disease Causes

Huntington disease is a genetic condition in which the main modification is represented by the expansion of a cysteine-adenosine-guanine (CAG) repeat encoding a polyglutamine tract in the N-terminus of the protein product called huntingtin. The exact role of huntingtin is not known, but it was observed that this cytoplasmatic protein is found in cellular organelles such as mitochondria, microtubules, transport vesicles and synaptic vesicles. N-terminal fragments of abnormal huntingtin accumulate in the central nervous system cells and form inclusions.

Huntington Disease Causes

It is estimated that frequency of Huntington’s disease in European countries is 2-10 cases per 100,000 inhabitants, but there is great variability in the frequency of disease worldwide. In USA the disease frequency is estimated at 4.1-8.4 cases per 100,000 inhabitants. High prevalence of Huntington disease were recorded in countries such as Venezuela, 700 cases per 100,000 inhabitants, Tasmania, 17.4 cases per 100,000 inhabitants and in South Africa, 46 cases per 100,000 inhabitants. In Finland and Japan, Huntington disease prevalence is less than 1 case per 100,000 inhabitants.

Mean age of disease onset is between 35-40 years. Have been reported cases in which Huntington disease debuts around the age of 2 years, but onset before the age of 10 years is very rare. Huntington disease does not affect gender with a particular predilection.

Huntington Disease Symptoms

Huntington disease is characterized by involuntary movements, cognitive impairment and behavioral changes that may have different intensities and any of these events can represent the first symptom of the disease. At the onset, choreiform movements can be discrete, occur distal to the fingers or may be represented by grimacing. Choreiform movements are represented by spontaneous movements, irregularly timed, randomly distributed, and abrupt. Severity of choreiform movements may vary  from mild intermittent gesture and expression exaggeration, abnormal hand movements and unstable dancelike gait with kept balance, to disabling violent movements.

Huntington Disease

Other involuntary movements are represented by parakinesia (unnatural movements into apparently purposeful gestures), ballism (large amplitude, usually proximal, flinging movements of a limb or a body part) and athetosis (slower, distal, writhing, sinuous movements ) which are considered to appear in sever forms of Huntington disease.

Bradykinesia, akinesia and dystonia (sustained muscle contractions) are features of Huntington disease which appear in evolution of the disease and may represent a major source of voluntary movements impairments, causing twisting or repetitive movements and abnormal postures. In terminal stages of the illness, patients  may present akinesia and rigidity or other signs characteristic for Parkinson disease such as postural instability and extrapyramidal hypertonicity.

In Huntington disease evolution, eye movement abnormalities such as saccadic slow and uncoordinated eye movements may occur. In very advanced forms of the disease, choreiform movements become minimal and may be  replaced by tics or myoclonus. Anxiety and stress can aggravate the symptoms. During the state of disease, dysarthria and dysphagia may be present.

It is described a juvenile form of Huntington disease (Westphal variant) with onset around the age of 20 years, or before puberty.  In this form of the disease motor degradation is much faster. In Westphal variant muscle stiffness is predominant and cognitive function deterioration is associated with cerebellar ataxia, bradykinesia and dystonia. Choreiform movements are minor or absent.

Behavioral changes may be present with several years before manifestation of choreiform movements. Personality changes, such as irritability, impulsive, paranoid and antisocial behavior. Drug and alcohol addiction is common and depression and suicide attempts are characteristic for Huntington disease.

Dementia syndrome has a progressive development, cognitive disorders appear later in disease evolution and are represented by behavioral and intellectual impairments, memory problems, reduction of verbal fluency and attention disorders. Other behavioral changes are represented by bipolar disorder, obsessive-compulsive, sexual and sleep disorders.

Huntington Disease

Huntington Disease Diagnosis

Huntington disease diagnosis is manly based on symptoms in characteristic forms of the disease. Imaging studies such as CT or MRI are not sufficient for Huntington disease diagnosis, but enlargement of bicaudate diameter (the distance between the heads of the 2 caudate nuclei) may represent a marker for diagnosis. Genetic testing it is available and should be performed in patients with suggestive clinical symptoms but with a negative family history, in order to confirm or exclude Huntington disease.

Huntington Disease Treatment

Huntington disease benefit only from symptomatic treatment of Huntington disease and is aiming to improve life quality and prevent disease complications.

Anticonvulsant medications (valproic acid and carbamazepine) have proven effective in reducing choreiform movements. Other drugs such as dopamine blockers (haloperidol, pimozide and clozapine) and depletion dopamine agents  (tetrabenazine and reserpine) are useful in choreiform movements control, but present adverse effects such as dizziness, akathisia and dyskinesia.

Selective serotonin reuptake inhibitors are useful in cases of Huntington disease that present depression. Other antidepressants such as bupropion, venlafaxine, nefazodone and tricyclic antidepressants are useful.

In patients with Huntington disease that present hallucinations, delusions or schizophrenia-like symptoms, antipsychotic medications is useful. Quetiapine, clozapine, olanzapine and risperidone, drugs that represent newer antipsychotic agents, are preferred to older agents because have a lower rate of adverse effects.

Friedreich Ataxia

Friedreich ataxia was first described by Nikolaus Friedreich in 1863 and belongs to the group of spinocerebellar heredodegenerative diseases,  which progresses to a spinal ataxic syndrome similar to funicular myelosis and spinal syphilis. It is a hereditary, autosomal recessive disease,  defect consists of a mutation located on chromosome 9.

Friedrich ataxia is considered to be the most common autosomal recessive ataxia, representing 50% of all cases of hereditary ataxias. Carrier testing and prenatal diagnosis of Friedreich ataxia are possible, due to the progress of molecular genetic.

Friedreich ataxia is characterized by degradation and demyelination of posterior cords of the spinal cord, spinocerebellar tracts and pyramidal tracts, associated with loss of thick, myelinated nerve fibers and fibrous gliosis. The spinal cord becomes thinner, transverse diameter of thoracic region is reduced.

Ataxia Freidreich is a relatively common disease, the incidence varies between 1 case in 22,000 inhabitants and 2 cases per 100,000 inhabitants. The disease produces significant morbidity, loss of mobility occurring in 15 years after disease onset. Around the age of 45 years, 95% of patients are immobilized.

Friedreich Ataxia Causes

Friedreich ataxia is the result of a gene mutation located on chromosome 9. This gene is encoding a protein called frataxin. The result of the mutation is an excessive number of repeats of the GAA (guanine adenine adenine) trinucleotide DNA sequence in the first intron of the gene that encodes frataxin. Friedreich ataxia is the only disease known to be a result of GAA trinucleotide repeat. This expansion of trinucleotid repeat alters the expression of the gene, decreasing the synthesis of frataxin protein.

Friedreich Ataxia

Decreased synthesis of frataxin protein induce major pathophysiological changes. In Friedreich ataxia, the major pathological process consists of a retrograde degeneration (dying back phenomena) of axons beginning from the periphery and neuronal loss with gliosis, affecting spinal cord and spinal nerve roots. The pathological process is leading to loss of thick, myelinated axons of  the peripheral nerves, while unmyelinated nerve fibers and sensory peripheral nerves are spared. Posterior columns of spinal cord, corticospinal and spinocerebellar tracts are showing demyelination and depletion of large myelinated nerve fibers, accompanied by a fibrous gliosis. Overall, the spinal cord becomes thin, anteroposterior and transverse diameters of the thoracic cord being reduced. Dorsal spinal ganglia show shrinkage and the posterior column and Clarke column degeneration is leading to loss of position and vibration senses and to a sensory ataxia. Large neurons loss in the sensory ganglia causes extinction of tendon reflexes.  Neuronal loss also appear in dentate nuclei, superior vermis, bulbar and pontine nuclei, and in optic tracts.

The degenerative process can also reach myocardium (heart muscle), leading to a chronic interstitial myocarditis with hypertrophy of cardiac fibers, accompanied by vacuolation of muscle fibers and interstitial fibrosis.

Friedreich Ataxia Symptoms

Friedreich ataxia debuts between 8 and 15 years, almost always before the age of 20 years, presenting the following symptoms:

• Gait ataxia, the patient presents a tabetocerbellar gait, due to mixed sensory and cerebellar ataxia associated  with impaired balance. Patient present a wide-based gait with constant shifting of position to maintain balance. Sitting and standing are associated with titubation (swaying motion of the trunk or head ). Gait ataxia may be associated with difficulty standing and running;
• Dysarthric and explosive speech, in evolution speech will become slow, slurred and incomprehensible. Incoordination of speaking, swallowing, laughing and breathing may lead to the impression that patient is choking while speaking;
• Loss of position and vibratory senses appears initially in the hands and feet, then in evolution light touch, pain and temperature sensation may be diminished;
• Reflexes are abolished, especially  rotulian and Achilles reflex and plantar cutaneous reflex is positive in over 90% of cases.
• 

  Friedreich Ataxia

  Muscle tone is normal or decreased, distal muscular atrophies may affect the upper limbs and appear initially to 50% of cases. Sfincetrian control is usually kept;

• Trophic disorders are characteristic and consist of kyphoscoliosis which can be severe, producing significant cardiopulmonary impairment and death by respiratory failure. Legs cyanosis may occur. High plantar arches, foot inversion, hammertoes are characteristic for the disease and are present in 50% of cases;
• Nystagmus occurs in 20% of patients, especially horizontal nystagmus;
• Visual acuity is rarely affected, but optic atrophy occurs in 25% of patients, leading to blindness;
• Deafness may be associated with vertigo;
• Hypertrophic cardiomyopathy occurs in more than 50% of patients, myocarditis, myocardial fibrosis, progressive heart failure, tachycardia and arrhythmia are common in the evolution of the disease. Cardiac arrhythmia and congestive heart failure can represent a cause of death in patients with Friedreich ataxia;
• Diabetes mellitus or impaired glucose tolerance are found in 10% of cases;
• Mental retardation, psychosis and dementia are less common, but cognitive impairment occur more frequently in disease evolution.

Friedreich Ataxia Diagnosis

Magnetic resonance imaging (MRI) is very useful in evaluation of atrophic changes seen in Friedreich ataxia. MRI of the brain and spinal cord shows atrophy of the cervical spinal cord and minimal cerebellar atrophy.

Transcranial sonography is useful in highlighting dentate nucleus hyperechogenicity, which represents a characteristic for the disease.

Echocardiography may reveals concentric ventricular hypertrophyor septal hypertrophy. Approximately 65% of patients present abnormal ECG findings, such as T-wave inversion and ECG aspects of ventricular hypertrophy.

Nerve conduction velocity is usually normal or can be mildly reduced.

Histologic findings show loss of thick, myelinated axons of  the peripheral nerves, while unmyelinated nerve fibers and sensory peripheral nerves are spared. Posterior columns of spinal cord, corticospinal and spinocerebellar tracts are showing demyelination and depletion of large myelinated nerve fibers, accompanied by a fibrous gliosis.

Friedreich Ataxia Treatment

No medical treatment is useful in slowing the natural evolution of neurological impairments for patients with Friedreich ataxia. Medical treatment is only administered for heart failure, arrhythmias and diabetes mellitus.

Surgical procedures  for scoliosis and foot deformities may be helpful in selected cases of Friedreich ataxia.

Vitamin D Supplements Enhance The Anti-inflammatory Effect Of Steroids In Asthma Patients

According to an article published in American Journal of Respiratory and Critical Care Medicine, supplements of vitamin D administered to children with asthma may improve anti-inflammatory effect of corticosteroids. Ann Chen Wu, MD, MPH, assistant professor in the Department of Population Medicine at Harvard Medical School and Harvard Pilgrim Health Care Institute, said that children with mild to moderate persistent asthma and vitamin D deficiency had a weaker response to treatment after one year than children with normal levels of vitamin D.

Vitamin D Supplements

The association between low vitamin D levels and asthma was made some time ago, but now researchers have shown that vitamin D deficiency is associated with a worse prognosis of asthma. The results were drawn from a multi-center study in which 1024 children with asthma, aged 5 to 12 years were included . Children followed treatment with budesonide (a local corticosteroid ), nedocromil (mast cell inhibitor) or placebo. Vitamin D level was divided into three categories: deficient (below 20 ng / ml), insufficient (20-30 ng / ml) or sufficient (> 30 ng / ml). Researchers have found that an adequate level of vitamin D is associated with improved lung function. It should be noted, however, that the study has some limitations: the small number of children with vitamin D (101) and the fact that vitamin D level was measured at one time point.

It should be noted that the consequences of vitamin D on asthma have been established by previous studies and there was great debate on vitamin D supplementation in patients with asthma. It seems that vitamin D deficiency is associated with an increase in immunoglobulin IgE, which is involved in asthma pathogenesis. It was also questioned that vitamin D supplementation would  diminish corticosteroids dose . Discussions on supplementation of vitamin D particularly on the dose because it is difficult to adjust the  appropriate dose for each person. Supplements of vitamin D can cause thirst, dry mouth, irregular heartbeats, weakness. Also, vitamin D can raise blood calcium levels (hypercalcemia). Hypercalcemia, in turn, can cause unwanted side effects such as irregular heartbeats, kidney stones, bone loss, etc.. It is worth reminding that vitamin D is produced in the skin from cholesterol under the effect of ultraviolet rays. Therefore, vitamin D is produced in the sunny months of the year. From here came the discussion about the possible role of this vitamin in immunity. Also, vitamin deficiency was associated with an increased risk of tuberculosis, for which reason it  was used as treatment in the past. Currently there are discussions on the role of vitamin D in cancer.

Synthetic Peptide

A new discovery made by researchers at University of North Carolina can improve respiratory function of patients with COPD and cystic fibrosis. The study, published online in The FASEB Journal, shows that “SPLUNC1” protein that can  diminish  airway obstruction by inhibiting epithelial sodium channel (ENaC).

Researchers created a synthetic peptide from  SPLUNC1 that is able to inhibit the epithelial sodium channel. To realize what part of SPLUNC1 is basically inhibiting sodium channel, researchers have gradually fragmented this protein. After fragmented 85% of protein, they have realized that the inhibitory function lies in the other 15% and created a synthetic peptide similar to the region. Subsequently, they tested to see whether this peptide inhibits sodium channel. The results were positive: SPLUC1 synthetic peptide blocked ion channel function and fluid absorption. Also, studies have shown that SPLUC1 can be used as treatment in cystic fibrosis. Robert Tarran, Ph.D., a researcher involved in the work from the Cystic Fibrosis/Pulmonary Research and Treatment Center at the University of North Carolina in Chapel Hill, said that the study may lead to a new treatment that can help reverse the mucus dehydration seen in Cystic Fibrosis and COPD patients.

Cystic Fibrosis

Cystic fibrosis  is a hereditary condition affecting the lungs, pancreas, liver and sinuses. Characteristic to cystic fibrosis is mutation ?F508 of CFTR gene. CFTR gene encodes a protein responsible for the transport of ions through the skin epithelium. Normal CFTR inhibits sodium channels, while the mutant CFTR let the  sodium channel uninhibited. In other words, sodium absorption is increased. Also, due to mutant CFTR, chloride is secreted. Therefore, one of the diagnostic test is sweat test. Cystic fibrosis patients have high amounts of sodium and chlorine in their sweat. Because of alterations in epithelial ion transport, mucus secreted by exocrine glands is extremely viscous, causing the obstruction of excretory channels.

As far as the lung is concerned, cystic fibrosis is associated with hyperinflation, bronchiectasis, diffuse fibrosis and atelectasis due to mucus plugs. Also, another sign is the presence of nasal polyps, which, after surgical excision, have high rate of recurrence. In addition, respiratory function is affected by frequent infections. The most frequently  infections are those caused by Staphyloccocus aureus, Pseudomonas aeruginosa, Hemophilus influenzae, and Burkholderia cepacia. Pancreatic insufficiency is another marker of the disease. Due to the blockage of the pancreatic duct, pancreatic enzymes can not be discharged into the duodenum and this leads to pancreatitis. A consequence of pancreatic insufficiency is malabsorbtion . This creates shortages of vitamins A, D, E and K. There are other conditions associated to cystic fibrosis, such as primary biliary cirrhosis, diabetes or  infertility. It is not a curable disease, but there are many treatments that alleviate symptoms.

Alzheimer Genome Project

For the past 8 years, the Laboratory of Neuro Imaging from University of California, Los Angeles has been organizing and archiving international data received from the Alzheimer’s Disease Neuroimaging Initiative. The goal of the program is to gather as much data as possible about the disease in order to raise the effectiveness of prevention and treatment methods.

With a new promising effort, the data gathered is expected to reach more than 165 terabytes of genetic data. This is the equivalent of almost 165 thousand copies of the Encyclopedia Britannica. Researchers from more than 60 countries have partnered up in the quest of understanding the Alzheimer’s disease. Arthur Toga, the director of the Laboratory of Neuro Imaging (LONI) says that  “We collect vast amounts of imaging, cognitive and biosample data from hundreds of subjects with Alzheimer’s disease, those at risk, and controls. One of the more unique aspects of this study is that all data are shared with any scientist, without embargo. We have already engaged many scientists around the world with this open access”.

Alzheimer’s Disease

This new collaboration project allows the enrollment of patients with normal cognitive function, patients who suffer from mild cognitive impairment and patients with Alzheimer’s disease. This extended initiative will allow researchers to understand the markers of the disease, thus allowing them to develop new treatment plans whilst also improving the rate of early discovery of the disease.

All the data obtained from  the Alzheimer’s Disease Neuroimaging Initiative (ADNI) is redirected into the computers of LONI. The data includes neuropsychological measures, functional imaging, precise biomarker measurements from both the blood and spinal fluid of the patients, as well as standardized neural imaging. All of the gathered data comes from detailed and long-term assessments. In addition to all the gathered data will be every patients’ entire genome sequence.

After the completion of the genome sequences, believed to take around 16 weeks, all the data will be made available around the world, for every scientist that is part of the program. This will allow a much more intense study of the genomes, thus allowing for the faster development of new therapies and prevention methods. To date, all the data gathered by the ADNI has been available to researchers.

The genome sequencing program led by ADNI is being funded by the Alzheimer’s Associations and the Brin Wojcicki Foundation . The foundation was created by Sergey Brin (co-founder of Google) and Anne Wojcicki (founder of 23andMe, an online genetics firm)

“Sequencing the ADNI participants and making the genetic data immediately available to researchers around the world will significantly improve our understanding and approach to Alzheimer’s disease”, said Anne Wojcicki.

Transtuzumab

A new drug that aimed at metastatic breast cancer has passed phase 3 clinical trials. Results were presented at the American Society of Clinical Oncology conference in Chicago. The clinical trial compared trastuzumab emtansine (T-DM1) with standard therapy for HER2-positive breast cancer and according to the study, treatment with T-DM1  had positive results and a higher rate of survival.

The study included 1,000 patients with Her2 positive metastatic breast cancer,  human epidermal growth factor receptor 2. HER2 is a receptor present on the cell surface, encoded by the Her2  gene. This receptor is responsible for regulating division, growth and repair of breast cells. In some breast cancers, there is a Her2 gene amplification but the  Her2 gene is not working properly. Thus there is a overexpression of HER2, which cause the anarchic proliferation of breast cells. It should be noted that HER2 gene mutation can be found not only in breast cancer but other cancers also. HER2-positive cancers grow faster and have a greater tendency to spread thus metastasis occurs more frequently than in other types of cancer. Therefore, researchers have developed therapies that specifically target this receptor, such as Transtuzumab.

Trastuzumab

Transtuzumab is a monoclonal antibody that binds to HER2 receptor and prevent cancer cells to multiply. Also, this drug inhibits angiogenesis (tumor vessel growth).Transtuzumab can be used alone or in combination with other therapies only if the tumor expresses Her2 receptors, otherwise Transtuzumab has no effect. Unfortunately, some patients do not respond to this therapy as resistance develops. Lapatinib can be also used to treat metastatic breast cancer alone or in combination with another drug.

According to trial the new drug, trastuzumab emtansine (T-DM1), may increase survival in patients with metastatic breast cancer. The average survival was 9.6 months in those receiving T-DM1 compared with 6.4 months in those treated with standard therapy. Average survival at 2 years was 65% for those treated with T-DM1 and 47.5% for those treated with standard therapy. Lead study author Kimberly Blackwell, professor of medicine at Duke University, noted that the finding is striking: “The drug worked. It was significantly better than a very effective approved therapy for HER2 overexpressing metastatic breast cancer”. He also added that the new drug has a much lower toxicity. Until now there have been cases of loss of hair in patients receiving T-DM1.

Although the drug has to pass other clinical trials to certify it really enhances survival rates, T-DM1 is certainly a huge step forward  in approaching metastatic forms of breast cancer.

 Alcohol Consumption and Atrial Fibrillation

According to new findings, alcohol is one of the risk factors for atrial fibrillation. The link between alcohol and heart palpitations was actually established in 1978 when ‘holiday heart syndrome’ was described. This syndrome was described in those who drank alcohol in excess, especially during winter. Now, researchers have made several findings concerning the effects of alcohol on the cardiac function following a study conducted between 2004 and 2011.

The fact that alcohol abuse causes arrhythmogenic cardiomyopathy is not something completely new in cardiology. Alcoholic cardiomyopathy is caused on the one hand by toxic alcohol aggression of the myocardium, and on the other hand, to thiamine deficiency, namely vitamin B1 (beri beri like effect). It was once called beer drinkers disease because it  occurred mainly in chronic  beer drinkers. Symptoms of cardiac disease, besides dyspnea, are palpitations that are usually announcing the installation of atrial fibrillation. Although the mechanism is not completely understood, there is an impaired electrical activity leading to atrial fibrillation installation. Alcoholic cardiomyopathy is a dilated cardiomyopathy ( the heart muscle is dilated and the systolic function is altered).

Alcohol Linked To Palpitations

Now, what  UCSF researchers found was that those who drink alcohol have a 4.5 times higher risk to develop atrial fibrillation than those who do not consume alcohol. The findings are available thanks to a study conducted between September 2004 to March 2011, on a sample of 233 patients. Of the patients surveyed, 133 reported paroxysmal atrial fibrillation or arrhythmia, irregular alcohol consumption, and 90 said they had supraventricular tachycardia with no episodes of atrial fibrillation. The senior author Gregory Marcus, MD, assistant professor of medicine at the UCSF Division of Cardiology, says there is no connection between age and race of patients and episodes of atrial fibrillation. He also stated that one of the limitations of the study was the small sample of patients. The discovery will be published in the August 1  issue of  the American Journal of Cardiology.

Alcohol has only negative effects on the heart, as shown in some studies. It was found that certain substances in wine such as resveratrol, which is an antioxidant, has protective effect on vessels. Resveratrol has anti-inflammatory effects and reduces blood sugar, so decreases the risk of atherosclerosis. Although discussions on the effects of alcohol are somewhat controversial,  excess consumption of alcohol certainly has harmful effects on the body. In addition, as Marcus says, some people are more vulnerable to the harmful effects of alcohol : “‘The clinical evidence suggests that some people are susceptible and other people aren’t, but if they know that they’re susceptible they should avoid alcohol,” he said.