Child cataract blood test developed

Child cataract blood test developed

A blood test that may improve treatment for children born with congenital cataracts has been developed by researchers in Manchester.

It analyses every known mutation in the DNA which can cause the condition.

The team, which is presenting the test at the British Society for Genetic Medicine, hope it will spread up diagnosis and help decide the best treatment.

The charity RNIB described the test as a “welcome step forward”.

About 200 children are born with cataracts in the UK each year.

“Diagnosing a congenital cataract is very easy at birth, but diagnosing the cause takes considerably longer,” Prof Graeme Black, from the University of Manchester, said.

The problem is there are more than 100 different mutations in a child’s DNA which have been linked to congenital cataracts.

“If you have a child with no family history then finding the cause can take months or years,” he told the BBC.

‘Faster treatment’

A complete diagnosis can help doctors work out the best course of treatment, inform families on the risks of cataracts if they have more children or diagnose severe diseases which have cataracts as an early symptom.

At the moment, each mutation has to be tested for individually.

A team of researchers, at Manchester University and the Central Manchester Health Care Trust, has used advances in genetics to look for all the errors in the genetic code in a single test.

Dr Rachel Gillespie said: “Our test looks at all of these genes in parallel, so patients can be diagnosed much faster and receive the treatment, clinical management and genetic counselling they need.”

Hospitals in Manchester will begin offering the test from December.

Steve Winyard, from the charity RNIB, said: “This is very interesting research as approximately 200 children in the UK are born with some form of congenital cataract every year.

“Any development which enables children to be diagnosed quicker and gain faster access to treatment is a welcome step forward.

“It will be exciting to watch how this research progresses and how the genetic information might be used to manage congenital cataracts in the future.”

Source: BBC News


Dreaming is possible even when the mind is blank

patients with Auto-Activation Disorder have the ability to dream and that it is the “bottom-up” process that causes the dream state.

Isabelle Arnulf and colleagues from the Sleep Disorders Unit at the Université Pierre et Marie Curie (UPMC) have outlined case studies of patients with Auto-Activation Deficit who reported dreams when awakened from REM sleep – even when they demonstrated a mental blank during the daytime. This paper proves that even patients with Auto-Activation Disorder have the ability to dream and that it is the “bottom-up” process that causes the dream state.

In a new paper for the neurology journal Brain, Arnulf et al compare the dream states of patients with Auto-Activation Deficit (AAD) with those of healthy, control patients. AAD is caused by bilateral damage to the basal ganglia and it is a neuro-physical syndrome characterized by a striking apathy, a lack of spontaneous activation of thought, and a loss of self-driven behaviour. AAD patients must be stimulated by their care-givers in order to take part in everyday tasks like standing up, eating, or drinking. If you were to ask an AAD patient: “what are you thinking?” they would report that they have no thoughts.

During sleep, the brain is operating on an exclusively internal basis. In REM sleep, the higher cortex areas are internally stimulated by the brainstem. When awakened, most normal subjects will remember some dreams that were associated with their previous sleep state, especially in REM sleep. Would the self-stimulation of the cortex by the brainstem be sufficient to stimulate spontaneous dreams during sleep in AAD patients?

Discovering the answer to this question would go some way to proving either the top-down or bottom-up theories of dreaming. The top-down theory stipulates that dreaming begins in higher cortex memory structures and then proceeds backwards as imagination develops during wakefulness. The bottom-up theory posits that the brainstem structures which elicit rapid eye movements and cortex activation during REM sleep result in the emotional, visual, sensory, and auditory elements of dreaming.

Thirteen patients with AAD agreed to participate in the study and record their dreams in dream diaries during the week leading up to the evaluation. These patients were compared with thirteen non-medicated, healthy control subjects. Video and sleep monitoring were performed on all twenty six participants for two consecutive nights. The first night evaluated the patient’s sleep duration, structure, and architecture of their dreams. During the second night of sleep evaluation, the researchers woke the subjects up as they entered the second non-REM sleep cycle, and again after 10 min of established REM sleep during the following sleep cycle, and asked them what they were dreaming before being woken up. The dream reports were then independently analysed and scored according to; complexity of dream, bizarreness, and elaboration.

Four of the thirteen patients with AAD reported dreaming when awakened from REM sleep, even though they demonstrated a mental blank during the daytime. This is compared to 12 out of 13 of the control patients. However, the four AAD patients’ dreams were devoid of any complex, bizarre, or emotional elements. The presence of simple yet spontaneous dreams in REM sleep, despite the absence of thoughts during wakefulness in AAD patients, supports the notion that simple dream imagery is generated by brainstem stimulation and sent to the sensory cortex. The lack of complexity in the dreams of the four AAD patients, as opposed to the complexity of the control patients’ dreams, demonstrates that the full dreaming process require these sensations to be interpreted by a higher-order cortical area.

Therefore, this study shows for the first time that it is the bottom-up process that causes the dream state.

Yet, despite the simplicity of the dreams, Isabelle Arnulf commented that the banal tasks that the AAD patients dreamt about were fascinating. For instance, Patient 10 dreamt of shaving – an activity he never initiated during the daytime without motivation from his caregivers, and an activity he could not do by himself due to severe hand dystonia. Similarly, Patient 5 dreamt about writing even though he would never write in the daytime without being invited by his caregivers to do so.

Interestingly, there were no real differences in the sleep measures between the AAD patients and the control patients apart from 46% of the AAD patients had a complete absence of sleep spindles (a burst of oscillatory brain activity visible on an EEG that occurs during stage 2 sleep). The striking absence of sleep spindles in localized lesions in the basal ganglia of these 6 AAD patients highlights the role of the pallidum and striatum in spindling activity during non-REM sleep. This is a key distinction between the AAD patients and the control patients; all thirteen control subjects displayed signs of sleep spindles.

Source: Medical News today

 


Love hormone play role in social interaction

A special type of social behavior tied to the presence of oxytocin receptors in the nucleus accumbens

Researchers at the Stanford University School of Medicine have shown that oxytocin – often referred to as “the love hormone” because of its importance in the formation and maintenance of strong mother-child and sexual attachments – is involved in a broader range of social interactions than previously understood.

The discovery may have implications for neurological disorders such as autism, as well as for scientific conceptions of our evolutionary heritage.

Scientists estimate that the advent of social living preceded the emergence of pair living by 35 million years. The new study suggests that oxytocin’s role in one-on-one bonding probably evolved from an existing, broader affinity for group living.

Oxytocin is the focus of intense scrutiny for its apparent roles in establishing trust between people, and has been administered to children with autism spectrum disorders in clinical trials. The new study, to be published Sept. 12 in Nature, pinpoints a unique way in which oxytocin alters activity in a part of the brain that is crucial to experiencing the pleasant sensation neuroscientists call “reward.” The findings not only provide validity for ongoing trials of oxytocin in autistic patients, but also suggest possible new treatments for neuropsychiatric conditions in which social activity is impaired.

“People with autism-spectrum disorders may not experience the normal reward the rest of us all get from being with our friends,” said Robert Malenka, MD, PhD, the study’s senior author. “For them, social interactions can be downright painful. So we asked, what in the brain makes you enjoy hanging out with your buddies?”

Some genetic evidence suggests the awkward social interaction that is a hallmark of autism-spectrum disorders may be at least in part oxytocin-related. Certain variations in the gene that encodes the oxytocin receptor – a cell-surface protein that senses the substance’s presence – are associated with increased autism risk.

Malenka, the Nancy Friend Pritzker Professor in Psychiatry and Behavioral Sciences, has spent the better part of two decades studying the reward system – a network of interconnected brain regions responsible for our sensation of pleasure in response to a variety of activities such as finding or eating food when we’re hungry, sleeping when we’re tired, having sex or acquiring a mate, or, in a pathological twist, taking addictive drugs. The reward system has evolved to reinforce behaviors that promote our survival, he said.

For this study, Malenka and lead author Gül Dölen, MD, PhD, a postdoctoral scholar in his group with over 10 years of autism-research expertise, teamed up to untangle the complicated neurophysiological underpinnings of oxytocin’s role in social interactions. They focused on biochemical events taking place in a brain region called the nucleus accumbens, known for its centrality to the reward system.

In the 1970s, biologists learned that in prairie voles, which mate for life, the nucleus accumbens is replete with oxytocin receptors. Disrupting the binding of oxytocin to these receptors impaired prairie voles’ monogamous behavior. In many other species that are not monogamous by nature, such as mountain voles and common mice, the nucleus accumbens appeared to lack those receptors.

“From this observation sprang a dogma that pair bonding is a special type of social behavior tied to the presence of oxytocin receptors in the nucleus accumbens. But what’s driving the more common group behaviors that all mammals engage in – cooperation, altruism or just playing around – remained mysterious, since these oxytocin receptors were supposedly absent in the nucleus accumbens of most social animals,” said Dölen.

For more : medical news today


Holy water may harm health more than heal

 

Holy water, which is known for its purported cleansing properties, could actually be more harmful for your health than healing, a new study has revealed.

Researchers at the Institute of Hygiene and Applied Immunology at the Medical University of Vienna tested water from 21 springs in Austria and 18 fonts in Vienna and found samples contained up to 62 million bacteria per milliliter of water, which is not safe to drink, an English news website reported.

Researchers found that 86 percent of the holy water, commonly used in baptism ceremonies and to wet congregants’ lips, was infected with common bacteria found in fecal matter such as E. coli, enterococci and Campylobacter.

The water contaminated with these bacteria can lead to diarrhea, cramping, abdominal pain, and fever.

It was found that the water also contained nitrates, commonly found in fertilizer from farms.

The research also suggested that while all church and hospital chapel fonts contained bacteria, the busier the church, the higher the bacterial count.

The study is published in the Journal of Water and Health.

 


Mom’s diet during pregnancy can affect kid’s behaviour

Researchers looked at the effect of, B-vitamins, folic acid, breast milk versus formula milk, iron, iodine and omega-3 fatty acids, on the cognitive, emotional and behavioral development of children from before birth to age nine.

Professor Cristina Campoy, who led the project, said that short term studies seem unable to detect the real influence of nutrition in early life, asserting that ‘NUTRIMENTHE was designed to be a long-term study, as the brain takes a long time to mature, and early deficiencies may have far-reaching effects. So, early nutrition is most important.

Many other factors can affect mental performance in children including; the parent’s educational level, socio-economic status of the parents, age of the parents and, as discovered by NUTRIMENTHE, the genetic background of the mother and child. This can influence how certain nutrients are processed and transferred during pregnancy and breastfeeding and in turn, affect mental performance.

Cristina Campoy said that it is important to try to have good nutrition during pregnancy and in the early life of the child and to include breastfeeding if possible, as such ‘good nutrition’ can have a positive effect on mental performance later in childhood.

 Source: Zee News

 

 


Bypass surgery lowers risk of dying by 30% for diabetics

Study finds 30 percent lower risk of dying for diabetics with bypass surgery vs. stentA new study by Indian origin researcher has suggested that diabetic people have a 30 percent less chance of dying if they undergo coronary artery bypass surgery rather than opening the artery through angioplasty and inserting a stent.

Dr. Subodh Verma, a cardiac surgeon and principal author of the paper, said that although bypass surgery is more invasive than stenting, it is imperative that physicians and patients realize that long term mortality reduction is best achieved with bypass surgery.

Verma and Dr. Jan Friedrich, an intensivist at St. Michael’s, decided to conduct a meta-analysis of all existing randomized control trials comparing the two procedures- coronary artery bypass surgery (CABG) and the angioplasty.

They also found that while patients with diabetes did better with CABG, the procedures was associated with an increased risk of non-fatal strokes. They said this may be related to the fact the heart has to be stopped during the procedure.

The study is published in the journal Lancet Diabetes and Endocrinology.

 


Doctors doing little to promote sunscreen use

Doctors rarely talk to patients about using sunscreen, even when patients have a history of skin cancer, according to surveys of U.S. physicians over two decades.

Despite professional guidelines encouraging doctors to educate their patients about sun protection, in more than 18 billion patient visits from 1989 to 2010, sunscreen was mentioned less than one percent of the time.

Even dermatologists managed to mention sunscreen in less than two percent of visits, researchers found.

“The rate of discussing sunscreen at visits, especially for high-risk patients with cancer or pre-cancerous lesions, was lower than we would have expected,” said one of the study’s authors, Scott Davis, of the dermatology department at Wake Forest School of Medicine in Winston-Salem, North Carolina.

The survey data may not capture all mentions of sunscreen with complete accuracy, but that does not change the conclusion that frequency is much too low, Davis told Reuters Health.

Failing to mention sunscreen often enough is contributing to excessive unprotected sun exposure, especially for children, that will lead to skin cancer later in life, he said.

Davis and his co-authors examined data from an ongoing annual government survey that asks randomly selected doctors representative of their areas to record their patient interactions in detail for one week.

Over the two decades of the survey, there were about 18.3 billion patient visits to outpatient physician offices, and based on doctors’ survey responses, sunscreen came up at less than 13 million of those visits, which is 0.07 percent.

When visits specifically concerned skin disease, doctors still mentioned sunscreen less than one percent of the time, according to the results published in JAMA Dermatology.

Dermatologists talked about sunscreen more than any other specialty, at 1.6 percent of all visits and 11.2 percent of visits involving a patient with current or past skin cancer.

“I don’t think the results are surprising, at least not for someone who is familiar with what research has said about skin cancer counseling practices,” said Dr. Jennifer S. Lin, who studies evidence-based healthcare decision making at The Center for Health Research of Kaiser Permanente Northwest in Portland, Oregon.

“It is certainly disappointing,” said Lin, who has conducted reviews to support the U.S. Preventive Services Task Force for the past seven years, but is not herself part of the USPSTF.

In the study, Davis and his coauthors found that doctors mentioned sunscreen most often to white patients, and to those in their 80s, but least often during visits by children.

Evidence supports UV and sun protection counseling to prevent skin cancer, especially for kids and teens, so extremely low counseling for those groups is “incredibly problematic,” Lin said.

But she cautions that sunscreen is only one part, and not the most important part, of UV protection, which includes avoiding midday sun, wearing appropriate clothing and avoiding tanning beds.

“My belief as a primary care doctor, not based on my research, is that our health system does not value counseling or patient education as much as it does procedures, testing, medications, etcetera,” Lin said.

Even for patients who already know about sunscreen, discussing it can help, Davis said.

As with smoking and unhealthy eating, most people are aware of the risks, but bringing it up during an office visit shows the patient that the doctor is concerned and wants to help change the behavior, he said.

The American Academy of Pediatrics recommends bringing up sun protection at annual checkups, Davis said.

“The fact that it was recommended least frequently to children is very concerning, since children tend to get the most sun exposure, and may develop lifelong habits of poor sun protection,” Davis said. “This may be where physicians have the greatest opportunity to fight the ongoing, growing epidemic of skin cancer.”

Skin cancer continues to be the most common form of cancer in the U.S., diagnosed in more than 60,000 people yearly, according to the Centers for Disease Control and Prevention.

Patients may need to take the initiative and bring up sun protection themselves if they have questions, he said.

“Physicians are pressed for time and feel they cannot take the extra time needed for discussion of preventive care topics,” Davis said.

“But the main thing may be that physicians just aren’t thinking of it. This research may make health care providers more aware of the need to encourage commonsense sun protection, especially for younger patients,” he said.

Source: zee news


Education helps women from poor places beat obesity

A new study has suggested that educational status could help protect women living in socioeconomically disadvantaged areas fight obesity.

The new report’ authors said that income and education are frequently used as markers for studying health inequalities, although they are ‘conceptually distinct.’

They said that it’s possible that education is a marker of an individual’s access to health information, capacity to assimilate health-related messages, and ability to retain knowledge-related assets, like nutrition knowledge.

Lead author Lauren K. Williams, Ph.D., formerly of the Centre for Physical Activity and Nutrition Research, School of Exercise and Nutrition Sciences at Deakin University in Victoria, Australia, said that education is particularly important for women with low incomes who live in deprived areas.

She said that the research team mailed surveys to a large random sample of more than 4,000 women, ages 18 to 45, living in low-income towns and suburbs in Victoria. Women reported height, weight, education and personal income.

The authors said that women of amplified disadvantage, those living in disadvantaged neighbourhoods with both low education and personal income, may be at higher risk for high BMI.

 

Source: Zee news

 


Radiation from airport body scanner detect signs of skin cancer

Airport security screening check points has great potential for looking underneath human skin to diagnose cancer at its earliest

Terahertz radiation, the technology that peeks underneath clothing at airport security screening check points has great potential for looking underneath human skin to diagnose cancer at its earliest and most treatable stages, a researcher has revealed.

Anis Rahman , Ph.D., explained that malignant melanoma, the most serious form of skin cancer , starts in pigment-producing cells located in the deepest part of the epidermis. Biochemical changes that are hallmarks of cancer occur in the melanocytes long before mole-like melanomas appear on the skin.

Rahman said that terahertz radiation- form of ‘non-ionizing’ radiation- is ideal for looking beneath the skin and detecting early signs of melanoma.

T-rays can be focused harmlessly below into the body and capture biochemical signatures of events like the start of cancer.

Rahman, president and chief technology officer of Applied Research and Photonics in Harrisburg, Pa., described research focusing T-rays through donated samples of human skin that suggest the technology could be valuable in diagnosing melanoma.

In addition to developing T-rays for cancer diagnostics, Rahman’s team has successfully harnessed them to measure the real-time absorption rates and penetration in the outer layer of skin of topically applied drugs and shampoo.

Other wide-ranging applications include the detection of early stages of tooth decay, trace pesticides on produce, flaws in pharmaceutical tablet coatings, and concealed weapons under clothing, as well as testing the effectiveness of skin cosmetics.

The research was presented at National Meeting and Exposition of the American Chemical Society.

 

Source: Zee news


Woman put on running shoes for breast cancer awareness

Women of different age groups on Sunday morning put on their running shoes and joined the ‘Pinkathon’ to create awareness about breast cancer.

 Nearly 2,000 women, including several breast cancer survivors, got a cheerful applause for every stride they took towards the finishing post during the 10 km all women Pinkathon.

The event was organized by Maximus Events, spearheaded by model-actor Milind Soman and HealthCare Global Enterprises (HCG) Ltd, a specialist in cancer care.

Expressing happiness over large participation in the event, Soman said events like these create much-needed awareness in fighting cancer which, if detected in time, can be cured.

“Pinkathon is an activity that not only promotes well being but also raises resistance levels and improves health, to help fight diseases like cancer,” he said.

Earlier, as a build up to today’s event, Treadathon was organized at a south Delhi mall last week where men ran on treadmills in relay format and encouraged women to participate in Pinkathon.

 

Source: Zee news