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duminică, 5 august 2012

Improved Diagnosis For Essential Tremor

Researchers at the University of Montreal and its affiliated CHU Sainte-Justine and CHUM hospitals have linked some cases of Essential Tremor (ET) to a specific genetic problem. ET is the most common movement disorder, becoming increasingly frequent with increasing age, which is characterized by an involuntary shaking movement (tremor) that occurs with motion, particularly when doing precise fine movement. The researchers published their findings tomorrow in The American Journal of Human Genetics.

Exactly why this shaking occurs has remained unknown, despite the work of many clinicians and researchers for decades. While it is known that there is a problem with the parts of the brain that control certain muscles, it has been a challenging endeavor to identify what exactly is malfunctioning in the nervous system of affected individuals. Despite strong evidence that the disease has a genetic basis and years of research effort, no actual genetic link had been identified until today.

Scientists already knew that mutations in a gene called FUS (Fused in Sarcoma) cause amyotrophic lateral sclerosis (ALS), a disease of the nerve cells in the brain and spinal cord that control voluntary muscle movement. The ET research team was successful in identifying mutations that cause ET in this gene, and they also proved that the disease mechanisms for ET and ALS FUS mutations are different. "When I started my post-doctoral work in the Rouleau laboratory, I felt compelled to study essential tremor. I saw a great opportunity to identify the first ET gene considering the plethora of families collected for study in the laboratory, and the availability of new sequencing technologies that has revolutionized gene discovery efforts," said lead author Dr. Nancy Merner. "As a proof of principle study, we chose one family to sequence and took a simple approach to overcome particular clinical barriers that have hindered previous gene discovery attempts."

The other members of the research team share her clinical focus. "This discovery has provided the world with the first insight toward the disease mechanism of essential tremor, which is crucial for disease management, particularly for future drug developments. It also presents a logical approach that can be used for additional ET gene discoveries, which we are currently pursuing" said Dr. Guy Rouleau. "There is currently a lack of consensus on the diagnostic criteria of ET thus a genetic diagnosis can be beneficial, especially for familial cases. Transitioning to a genetic diagnosis would cut down on ET misdiagnosis," added Dr. Patrick Dion who is another key researcher on this project. Misdiagnosis occurs in 37-50% of individual cases.

To affected individuals, the tremors are generally annoying and embarrassing, and can interfere with everyday tasks such as working, writing, eating, or drinking, since tremors affecting the hands are the most common and affected individuals can have trouble holding or using small objects. "Our overall goal in this endeavor is to improve the quality of life of affected individuals," said Dr. Merner. "The road is now paved for improvement."

Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
Visit our neurology / neuroscience section for the latest news on this subject. The identification of FUS was performed in the Rouleau laboratory and supported by the Chaire Jeanne-et-J.-Louis-Lévesque en Génétique des Maladies du Cerveau de l'Université de Montréal. The Canadian Institutes of Health Research has also funded the pursuit for additional ET genes.
About the study:
"Exome sequencing identifies FUS mutations as a cause of essential tremor." Authors: Nancy D. Merner, Simon L. Girard, Hélène Catoire, Cynthia V. Bourassa, Veronique V. Belzil, Jean-Baptiste Rivière, Pascale Hince, Annie Levert, Alexandre Dionne-Laporte, Dan Spiegelman, Anne Noreau, Sabrina Diab, Anna Szuto, Hélène Fournier, John Raelson, Majid Belouchi, Michel Panisset, Patrick Cossette, Nicolas Dupré, Geneviève Bernard, Sylvain Chouinard, Patrick A. Dion, and Guy. A Rouleau
About the researchers:
Dr. Guy Rouleau, M.D., PhD, Professor, Faculty of Medicine, Université de Montréal, Director of the CHU Ste-Justine Research Centre, Investigator at the Research Centre of the Centre hospitalier de l'Université de Montréal.
Dr. Nancy Merner, Ph.D., post-doctoral fellow, Faculty of Medicine, Université de Montréal
Dr. Patrick Dion, Ph.D., Research associate, Faculty of Medicine, Université de Montréal
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Seizures In Babies: Cutting-Edge Imaging Technique To Improve Diagnosis

A cutting-edge technique, combining brain imaging and monitoring of its electrical activity, could improve early diagnosis and treatment of babies who suffer seizures.

Researchers at The Rosie Hospital, Cambridge, are investigating the new technique with funding from children's charity Action Medical Research.

In the UK over 2,000 newborn babies suffer seizures each year.1 Early diagnosis and treatment is vital, as seizures may cause lasting brain damage. However, seizures sometimes go unnoticed, as babies can have no obvious symptoms.

Dr Topun Austin at The Rosie Hospital was awarded £131,150 by Action Medical Research for the two year project. "Seizures remain a major challenge when caring for newborn babies," explains Dr Austin, "but can be difficult to diagnose as abnormal movements of the baby may be subtle or not even present."

Around two or three babies in every 1,000 born alive also suffer from seizures within a month of birth.2,3 Babies born very prematurely are especially vulnerable, as are babies who suffer from a lack of oxygen during birth.

Babies who are suspected of suffering from seizures are normally referred for specialist tests. "The current diagnostic test is an electroencephalogram (EEG), which measures electrical activity within the brain," explains Dr Austin. "EEG has limitations though, as it can only detect seizures occurring near the surface of the brain. It cannot detect abnormalities deeper within the brain."

Dr Austin is developing a new way to diagnose seizures, which combines existing EEG technology with a new optical imaging system. The technique could also help other people with seizures or epilepsy.

"When babies have a seizure, there is a large amount of electrical activity in the brain, which we are measuring with EEG," explains Dr Austin. "The amount of oxygen in the brain also changes, which we are measuring with the new optical system. This system works by shining near-infrared light into the brain, which is harmless and non-invasive."

Dr Austin hopes the new combined technique will boost understanding of what's happening inside the brain during seizures: "The ultimate aim is to develop the new system for routine use at the cot-side."

This project brings together a team of clinicians and scientists with a proven track record in developing new technologies to study the infant brain. Most of the work is being carried out in a new neonatal unit - one of the largest in the country - at the Rosie Maternity Hospital, Cambridge.

Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
Visit our pediatrics / children's health section for the latest news on this subject. 1. Rennie JM, Hagmann CF, Robertson NJ. Neonatal cerebral investigation. (2008) Cambridge University Press.

2. Panayiotopoulos CP. Chapter 5. Neonatal seizures and neonatal syndromes. The Epilepsies: Seizures, Syndromes and Management. Bladon Medical Publishing (Oxfordshire UK) 2005.

3. Davis AS et al. Seizures in extremely low birth weight infants are associated with adverse outcome. J Pediatr 2010; 157: 720-5.

Source: Action Medical Research

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marți, 13 decembrie 2011

Gene Inheritance Patterns Influence Age Of Diagnosis In BRCA Families

Main Category: Breast Cancer
Also Included In: Genetics; Ovarian Cancer
Article Date: 13 Dec 2011 - 1:00 PST

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Women who inherit the cancer genes BRCA1 or BRCA2 from their paternal lineage may get a diagnosis a decade earlier than those women who carry the cancer genes from their mother and her ancestors, according to a new study by researchers at the North Shore-LIJ Health System's Monter Cancer Center in Lake Success, NY. The findings were reported at the San Antonio Breast Cancer Symposium.

Iuliana Shapira, MD, North director of cancer genetics, and her colleagues conducted a retrospective review of 130 breast or ovarian cancer patients with the BRCA1 or BRCA2 mutations. They chose only those patients who knew the parent of origin. In other words, they could follow along their family tree to see where the breast cancer gene originated from. Some of their families had their own genetic tests done. For others, it was a matter of following the family pedigree.

As expected, a person had a 50-50 chance of getting a mutant BRCA gene from their mother or their father's branch that carried the mutation. It is an autosomal dominant mutation. Looking at the family maps revealed some surprising findings. Contrary to the notion that the BRCA mutations are associated more commonly with Ashkenazi Jews, the scientists found that the BRCA mutations were also in families of Irish and Jamaican descent. "No one had ever conducted a study to look at the parent-of-origin effects," said Dr. Shapira. "Genetic diseases may display parent-of-origin effects. In such cases, the risk depends on the specific parent or origin allele. Cancer penetrance in mutations carriers may be determined by the parent origin of BRCA mutation."

They analyzed 1,889 consecutive (136 ovarian + 1753 breast) breast (BrCa) or ovarian cancer (OvCa) patients presenting for treatment at the Monter Cancer Center between 2007 and 2010. In 130 patients with BRCA 1 or 2 mutations the parent of origin for the mutation was known. Of the 130 patients, two had both BRCA1 and BRCA2 mutated paternally inherited disease and were excluded from this analysis. Of the breast cancer patients: 28 patients had paternal and 29 had maternal BRCA1 mutations, 24 had paternal and 21 had maternal BRCA 2 mutations. Of the ovarian cancer patients, six had paternal and 10 had maternal BRCA1 mutations; seven had paternal and three had maternal BRCA2 mutations.

In carriers of BRCA mutations, the mean age at diagnosis for ovarian cancer was 51 (range 21-70) and for breast cancer was 43 (range 24-78). But when they compared the mean age at diagnosis in the maternal versus paternal inheritance, they were surprised to find that breast cancer patients with a BRCA1 maternal inheritance, the age of diagnosis was on average around 45. By comparison, women with BRCA1 paternal inheritance were diagnosed around 38. For breast cancer BRCA2 maternal inheritance, the average age of diagnosis was 50 compared to 41 years old for those with a BRCA2 paternal inheritance.

There was no significant difference between paternal and maternal age of ovarian cancer diagnosis of BRCA1 or BRCA2 mutations.

"If this observation is duplicated in larger cohorts the results will have important implications for recommendation of surgical risk reduction in BRCA mutation carriers," said Dr. Shapira. "That would mean that doctors might think about watching and waiting in young woman with BRCA mutations inherited from her mother's family and being more aggressive in young women who inherited the mutation from their father's side."

Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
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duminică, 11 decembrie 2011

Diagnosis Of Tuberculosis Is Increased In Postpartum Women

Main Category: Tuberculosis
Also Included In: Women's Health / Gynecology
Article Date: 10 Dec 2011 - 1:00 PST

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The incidence of tuberculosis (TB) diagnosis is significantly increased in mothers postpartum, suggesting a potential new population to target for screening, according to a new UK-wide cohort study.

In the joint study between the Health Protection Agency and the University of East Anglia, researchers analyzed data on all women with pregnancies between 1996 and 2008 from the General Practice Research Database, which contains records from 460 practices across the UK, representing 5.5 percent of the UK population. The findings were published online ahead of print publication in the American Thoracic Society's American Journal of Respiratory and Critical Care Medicine.

"Ours is the first primary care based cohort study to quantify the risk of TB during pregnancy and postpartum," said Dominik Zenner, degree? consultant in public health, Respiratory Diseases Department at the Health Protection Agency. "Although we found a significantly increased risk of TB in the six months following pregnancy, but not during pregnancy, the risk during pregnancy is almost certainly also increased."

The researchers estimated incidence rates for TB in pregnancy, six months postpartum and outside of pregnancy, and modelled adjusted incidence rate ratios (IRRs) in a retrospective cohort study. They also performed a nested self-controlled case series (SCCS) analysis, adjusting for all non-time-dependent confounders, such as country of origin and ethnicity. In the SCSS analysis, pregnant women with TB were selected from the cohort, and incidence rates (IRs) in pregnancy and post-partum were compared with rates outside pregnancy.

A total of 192,801 women with a total of 264,136 pregnancies were included in the cohort study. Of 177 TB events that occurred during the study, 22 occurred during pregnancy and 22 occurred in the 180 days after pregnancy. The crude TB rate for the combined pregnancy and post-partum period was 15.4 per100,000 person years, which was significantly higher than the rate outside of pregnancy (9.1 per 100,000 person years, p=0.02). After adjustment for age, region and socio-economic status, post-partum TB risk was significantly higher than TB risk outside pregnancy (IRR 1.95, CI 1.24-3.07), whereas no significant increase during pregnancy was observed (IRR 1.29, CI 0.82-2.03).

These observations were confirmed in the SCCS analysis. Adjusting for all non-time bound confounders, the time period of observation and patients' age, the IRR of TB during pregnancy (1.03, CI 0.64-1.65) was not significantly increased compared with the risk outside of pregnancy. However, the TB risk was significantly increased in the 6 month period following pregnancy (IRR 1.61, CI 1.01-2.58, p=0.04).

The study had a few limitations, including its observational design. Administrative delay between TB diagnosis and recording of the diagnosis may have occurred. Diagnostic delays may also occur during pregnancy. Immunological changes during pregnancy gradually increase TB susceptibility and then gradually normalize after delivery. The combination of these factors may account for the failure to show a significantly increased TB risk during pregnancy in this study.

"The incidence of TB diagnosis is significantly increased post-partum, probably reflecting an increase in TB incidence during pregnancy," concluded Dr. Zenner. "Given our results, targeted screening of pregnant and post-partum women in high-risk groups may be warranted, given that delays in treatment initiation are associated with poorer outcomes for both mothers and their children."

Article adapted by Medical News Today from original press release. Source: American Thoracic Society
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joi, 8 decembrie 2011

New Protocols Improve Detection Of MicroRNAs For Diagnosis

Main Category: Medical Devices / Diagnostics
Also Included In: Pregnancy / Obstetrics; Breast Cancer
Article Date: 08 Dec 2011 - 2:00 PST

MicroRNAs (miRNAs) that regulate processes including fertilization, development, and aging show promise as biomarkers of disease. They can be collected from routinely collected fluids such as blood, saliva, and urine. However, a number of factors can interfere with the accuracy of miRNA tests. In a study published online today in the Journal of Molecular Diagnostics, a group of researchers provide clear procedures for the collection and analysis of miRNA, significantly improving their diagnostic accuracy.

"Our study demonstrates that inherent differences in biological samples and the methods used to collect and analyze them can dramatically affect the detection and quantitation of microRNAs," reports lead investigator Dominik M. Duelli, PhD, Department of Cellular and Molecular Pharmacology, Chicago Medical School at Rosalind Franklin University of Medicine and Science. "We developed measures to overcome the interfering activities and improved the sensitivity of miRNA detection up to 30-fold."

Over 1,000 miRNAs exist in the human body. Deregulation of specific miRNAs is associated with disease. Measuring the amount of miRNAs in body fluids can aid in the diagnosis of disease or conditions such as pregnancy. Dr. Duelli and his colleagues quantified two miRNAs: miR-16, which acts as a tumor suppressor and is deregulated or lost in some cancers, including breast cancer; and miR-223, which has been implicated in pregnancy and other conditions, as well as in some malignant diseases.

"A fundamental challenge to making microRNA diagnostics broadly available has been the inability to isolate enough high quality material to analyze. Our paper outlines ways of effectively collecting blood plasma samples, thus bringing us one step closer to the goal of making [miRNA] disease diagnostics a reality," adds co-investigator Sarah Linnstaedt, PhD, of Duke University.

The authors found that the choice of blood collection tube affects quantitation. Traditional green-top heparin tubes interfered nearly completely with miRNA detection. Grey-top tubes containing the anticoagulant sodium fluoride and potassium oxalate (NaF/KOx) provided the best results. Although miR-16 is about 500 times more abundant in blood plasma than miR-223, the results for both were similar, indicating that the differences in detection resulting from the choice of collection method apply to other miRNAs. Furthermore, collection of miR-223 in serum yielded more variable results, signifying that for some miRNAs, analysis of blood in plasma form is preferred.

The study indicated that natural components of blood plasma co-purify with miRNAs, interfering with their detection. The authors identified extra steps in purification, and the ideal dilution level, to reduce the interference. "Although counterintuitive, by reducing the starting material, inhibitors were presumed to be diluted below a threshold of interference. Careful titration of starting material yields more accurate miRNA quantitation," explains Dr. Duelli. In another approach, the authors avoided the problem of contamination by combining an enzyme that overcomes plasma inhibitors with standard enzymes to increase the sensitivity of miRNA detection by about 30-fold.

Finally, the authors observed that differences in plasma composition among individual donors yield different miRNA measurements. "These results raise the possibility that factors including diet, exercise, circadian rhythms, and seasons, which alter the blood chemistry, might affect miRNA detection and quantitation," says Dr. Duelli.

"The implications of this work are that without consideration of the variables we have identified, miRNA quantitation of human samples may not be reliable for the purpose of biomarker development. We provide approaches that enable faithful quantitation of miRNA abundance in body fluid," concludes Dr. Duelli.

Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
Visit our medical devices / diagnostics section for the latest news on this subject. The article is "Plasma Components Affect Accuracy of Circulating Cancer-Related MicroRNA Quantitation," by D-J. Kim, S. Linnstaedt, J. Palma, J. Cheol Park, E. Ntrivalas, J.Y.H. Kwak-Kim, A. Gilman-Sachs, K. Beaman, M.L. Hastings, J.N. Martin, and D.M. Duelli (doi: 10.1016/j.jmoldx.2011.09.002). Published online ahead of its issue, the study will appear in the Journal of Molecular Diagnostics, Volume 14, Issue 1 (January 2012) published by Elsevier.
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