Acidosi metabolica

Sindrome di Mayer-Rokitansky-Küster-Hauser: microdelezione ricorrente sul cromosoma 17q12

La sindrome di Mayer-Rokitansky-Küster-Hauser ( MRKH ) è un'aplasia congenita dell'utero e della porzione superiore della vagina a causa di uno sviluppo anomalo dei dotti mulleriani, che può essere isolata o associata ad altre malformazioni congenite, tra cui difetti renali, scheletrici, uditivi ... (Articolo Completo)

Glioblastoma ricorrente: maggiore efficacia quando la chemioterapia è associata a Bevacizumab

Bevacizumab ( Avastin ) si è dimostrato efficace nel trattamento del glioblastoma recidivante in combinazione con la chemioterapia rispetto a controlli storici, ma non in studi clinici randomizzati. Un gruppo di Ricercatori dell’UCLA ( University of California – Los Angeles ) ha condotto un’an... (Articolo Completo)

Linfoma cutaneo anaplastico primario a grandi cellule: malattia estesa degli arti

I ricercatori della Stanford University a Stanford negli Stati Uniti, hanno condotto uno studio retrospettivo di coorte per identificare i fattori prognostici nel linfoma cutaneo anaplastico primario a grandi cellule, focalizzando l’attenzione sulla malattia estesa degli arti, definita come pre... (Articolo Completo)

Distrofia di Duchenne: diagnosi molecolare mediante array-CGH

Le distrofinopatie, che comprendono la distrofia muscolare di Duchenne, la distrofia muscolare di Becker e la cardiomiopatia dilatativa X-correlata, sono disordini neuromuscolari recessivi legati al cromosoma X, causati dalle mutazioni nel gene distrofina. Quasi il 70% delle mutazioni, che cau... (Articolo Completo)

IKBKE gene linked to breast cancer

Using a novel three-part screening process, researchers at Dana-Farber Cancer Institute have identified a gene that is made inappropriately in about a third of all breast cancers. The discovery, reached in collaboration with researchers at Brigham and Women's Hospital ( BWH ) and the Broad Instit... (Articolo Completo)

Identificati geni strettamente correlati alla malattia coronarica

Le moderne piattaforme di genotipizzazione permettono una sistematica ricerca per i componenti ereditari di malattie complesse. Ricercatori del WTCCC ( Wellcome Trust Case Control Consortium ) e del Cardiogenics Consortium, hanno compiuto un’analisi congiunta di due studi di associazione genom... (Articolo Completo)

Scoperte varianti genetiche che possono aumentare il rischio di malattia coronarica del 36%

Ricercatori del Wellcome Trust Case Control Consortium ( WTCCC ) e del Cardiogenics Consortium hanno impiegato la tecnologia GeneChip di Affymetrix per scoprire diverse nuove variazioni genetiche che possono aumentare il rischio di sviluppare la malattia coronarica del 36%. L’analisi genetica ... (Articolo Completo)

Sclerosi multipla: identificati gli alleli di rischio

Ricercatori dell’International Multiple Sclerosis Genetics Consortium hanno condotto uno studio di associazione sull’intero genoma per identificare gli alleli associati a rischio di sclerosi multipla. E’ stata utilizzata la tecnologia del DNA microarray per identificare comuni varianti di sequ... (Articolo Completo)

Malattia coronarica: analisi di associazione genomewide

Le moderne piattaforme di genotipizzazione consentono una ricerca sistematica di componenti ereditarie per malattie complesse. In uno studio internazionale è stata condotta un’analisi congiunta di due studi di associazione su tutto il genoma della malattia coronarica. Inizialmente sono stati i... (Articolo Completo)

Sclerosi multipla: alleli di rischio identificati mediante uno studio genomico

E’ stato condotto uno studio di associazione sull’intero genoma per identificare gli alleli associati al rischio di sclerosi multipla. La tecnologia del DNA microarray è stata utilizzata per identificare varianti comuni di sequenza di DNA in 931 famiglie trio ( costituite da un figlio affetto ... (Articolo Completo)

Partner proteins may help estrogen foster breast cancer

A study suggests that the hormone estrogen works in partnership with other proteins to activate or suppress gene activity in breast cancer cells. Surprisingly, one of the partner proteins is known as c-MYC, a gene activator that has long been associated with cancer development but was not known... (Articolo Completo)

Vascular dysfunction in women's heart disease

Although ischemic heart disease ( IHD ) is often considered a "man's disease," it takes the lives of more women than men each year. In fact, in 2000, about 60,000 more women than men died from cardiovascular disease. A research found that women's disease is actually very different from that t... (Articolo Completo)

Absence of critical protein, C/EBPb, linked to infertility

Researchers at the University of Illinois at Urbana-Champaign report that experiments involving mice indicate that the transcription factor protein C/EBPb must be present in the uterus for pregnancy to occur. The study is published in the PNAS. Without it, they say, an embryo cannot survi... (Articolo Completo)

Tetrabenazine is effective to treat the excessive involuntary movements of Huntington’s

A drug dramatically eases one of the most disabling symptoms of Huntington’s disease, involuntary writhing movements known as chorea. The medication is Tetrabenazine. In a randomized, controlled study conducted in 84 patients at 16 sites around the nation, doctors found that the medication... (Articolo Completo)

Huntington's disease: Tetrabenazine may cut down involuntary movements

Tetrabenazine ( Nitoman/Xenazine ) cut down involuntary movement in patients with Huntington's disease on average by about 25 percent, with many patients experiencing a greater improvement. The study is published in the journal Neurology. Overall, patients who received the medication were ... (Articolo Completo)

Technique for multiplying adult stem cells developed

Researchers of the Whitehead Institute have discovered a way to multiply an adult stem cell 30-fold, an expansion that offers tremendous promise for treatments such as bone marrow transplants and perhaps even gene therapy. "A 30-fold increase is ten times higher than anyone's achieved befor... (Articolo Completo)

Immune system response to viral DNA is unique

The human body has a unique immune system response to foreign DNA, suggesting that DNA viruses and RNA viruses are detected by different mechanisms. Yale School of Medicine researchers also found that DNA recognition might be used to detect invasive bacteria in addition to viruses, according t... (Articolo Completo)

Endoglin protein associated with severe preeclampsia

Researchers at Beth Israel Deaconess Medical Center ( BIDMC ), in collaboration with a research team from The Hospital for Sick Children, Toronto, have identified a second protein which, in combination with sFlt1, escalates preeclampsia to a severe state. These new findings, reported in the N... (Articolo Completo)

Obesity in middle age linked to higher risk of hospitalization and death in older age

Middle-age individuals without high blood pressure or high cholesterol levels but who are obese have an increased risk in older age for hospitalization or death from coronary heart disease, cardiovascular disease, or diabetes, compared to individuals of normal weight. Obesity adversely affects... (Articolo Completo)

miRNA signature in solid tumors identified

Researchers have discovered that a wide variety of different cancers actually share something in common, a molecular "signature" made up of tiny bits of genetic material called microRNA ( miRNA ) that target key cancer genes and promote malignant growth. The finding provides more insight into m... (Articolo Completo)

Mutation in gene for PDE11A associated with development of micronodular adrenocortical hyperplasia

Researchers at the National Institutes of Health ( NHI ) have discovered that a rare tumor of the adrenal glands appears to result from a genetic deficiency of an important enzyme. The enzyme is one of a class of enzymes involved in halting a cell's response to hormones and appears to stop cells ... (Articolo Completo)

Genetic signature that predicts colon cancer uncovered

Researchers at Jefferson Medical College in Philadelphia have uncovered a genetic "signature" that accurately identifies colon cancer. Colon cancer may begin when processes that regulate adult stem cells in the colon go awry. A handful of stem cells lie in the bottom of tiny tube-like "crypts"... (Articolo Completo)

Schizophrenia: FDA has approved Invega

The FDA ( Food and Drug Administration ) has approved Invega ( Paliperidone ) extended-release tablets for the treatment of schizophrenia. Paliperidone is the principal active metabolite of Risperidone ( Risperdal ), a marketed drug for treating schizophrenia. The effectiveness of Invega in... (Articolo Completo)

Parkinson's disease: symptoms reversed by increasing levels of alpha-synuclein

Researchers at Whitehead Institute, in collaboration with colleagues at several research centers, including the University of Missouri's School of Biological Sciences, have identified a key biological pathway that, when obstructed, causes Parkinson's symptoms. Even more importantly, they have fig... (Articolo Completo)

Cancer stem cells that cause leukemia in a mouse model isolated

Researchers at Dana-Farber Cancer Institute and Children's Hospital Boston and their colleagues have isolated rare cancer stem cells that cause leukemia in a mouse model of the human disease. The leukemia stem cells isolated proved to be surprisingly different from normal blood stem cells. Ca... (Articolo Completo)

Clinical usefulness of cardiac CT scan for detecting blockages in coronary arteries is limited

Use of the 16-row multidetector computed tomography ( CT ) scan to detect narrowing of coronary arteries may result in a high number of cases in which the diagnosis cannot be determined, limiting the clinical usefulness of the test. However, the heart CT test may be useful in excluding coronary ... (Articolo Completo)

One gene links newborn neurons with those that die in diseases such as Alzheimer's

In certain parts of the brain, neurons go through a cycle of death and replenishment. New research from Rockefeller University's Fernando Nottebohm, showed that these replaceable neurons share something in common with the neurons that die in people with diseases such as Alzheimer's and Parkins... (Articolo Completo)

MicroRNA opens potential revolution in cancer diagnosis

A group of researchers from Dana-Farber Cancer Institute, the Broad Institute of MIT and Harvard, MIT, and St. Jude’s Children’s Research Hospital in Memphis, has described two important breakthroughs: (1) a surprisingly accurate correlation of the 217 known human microRNAs ( miRNAs – small nonco... (Articolo Completo)

Simple technique to identify hematopoietic stem cells discovered

Researchers at the University of Michigan – Medical School discovered identifying markers for primitive blood-forming stem cells in mice. Called hematopoietic stem cells, they give rise to all the different types of specialized cells found in blood. By reading the bar code, researchers can sep... (Articolo Completo)

SNP array technology reveals possible location of lung cancer genes

In a study, published in the journal Cancer Research, the researchers at Dana-Farber Cancer Institute, used single nucleotide polymorphism ( SNP ) array technology, which focuses on the building blocks of individual genes, to identify regions of chromosomes where genes were either left out or mul... (Articolo Completo)

Pokemon, a new cellular oncogene essential for the development of cancer

Scientists at Memorial Sloan-Kettering Cancer Center ( MSKCC ) identified a new cellular oncogene essential for the development of cancer. The investigators named the gene Pokemon ( for POK Erythroid Myeloid Ontogenic factor ). The work was published in the journal Nature. Oncogenes are g... (Articolo Completo)

Sleeping beauty plays a significant role in identifying cancer genes

Researchers at the University of Minnesota Cancer Center and the National Cancer Institute ( NCI ), have discovered a new method that could accelerate the way cancer-causing genes are found and could lead to a more accurate identification of the genes. The gene identification method was develo... (Articolo Completo)

Three deadly parasite genomes sequenced

Researchers have determined genetic blueprints for the parasites that cause three deadly insect-borne diseases: African sleeping sickness, leishmaniasis and Chagas disease. The research, funded in part by the National Institute of Allergy and Infectious Diseases ( NIAID ), part of the National... (Articolo Completo)

Neuroblastoma, DNA microarray technology rapidly detects genetic changes

Researchers have developed a customized gene chip to rapidly scan tumor samples for specific DNA changes that offer clues to prognosis in cases of neuroblastoma, a common form of children’s cancer. Rather than covering the entire genome, the microarray focuses on suspect regions of chromosomes ... (Articolo Completo)

Breast cancer, a set of genes linked to spread to lungs identified

Researchers at Memorial Sloan-Kettering Cancer Center ( MSKCC ) have identified a set of genes in breast tumors that appear to predict if the disease will spread to the lungs and, once there, how virulent it will become. “ Our work shows that the ability of a tumor to form metastases depends o... (Articolo Completo)

Bioterrorism: anthrax test, developed by Army and CDC, receives FDA approval

FDA ( Food and Drug Administration ) has cleared a method for identifying Bacillus anthracis, the causative agent of anthrax, for diagnostic use by the UThe test, known as the Gamma Phage Assay. Gamma Phage Assay was modified by researchers at the U.S. Army Medical Research Institute of Infec... (Articolo Completo)

Macrophages kill bacteria, but not always

Macrophages are effective weapons used by our immune system to absorb and digest pathogenic intruders. Cell biologists at the University of Bonn discovered that some bacteria can subvert this defence mechanism and even multiply within the macrophages. Macrophages, cells whose job is to devo... (Articolo Completo)

A molecular pathway that leads to recurrence of breast cancer discovered

Using a mouse model of breast cancer, researchers from the University of Pennsylvania School of Medicine have shown that Snail, a molecule normally important in embryonic development, can promote breast cancer recurrence. They also found that high Snail expression predicts more rapid tumor recur... (Articolo Completo)

Langat flavivirus, NS5 allows to evade the host immune system

Researchers from the National Institute of Allergy and Infectious Diseases ( NIAID ), part of the National Institutes of Health ( NIH ), have made the surprising discovery that flaviviruses, which cause such serious diseases as West Nile fever, yellow fever and forms of encephalitis, evade immune... (Articolo Completo)

Elevated blood levels of osteopontin linked to pleural mesothelioma

Researchers at New York University ( NYU ) School of Medicine and Wayne State University have found a molecule that reveals the early stages of pleural mesothelioma, a chest cancer caused by asbestos. The finding opens the way to a blood test for the disease. The study is published in the Th... (Articolo Completo)

SCD1 gene makes muscles in the obese store more fat

Researchers from Duke University Medical Center and Louisiana State University have found that the gene encoding an enzyme that hinders muscle from burning fat manufactures three times more enzyme in the muscle of obese people than lean people. This causes the obese muscle tissue to both store ... (Articolo Completo)

Fused genes trigger the development of prostate cancer

Researchers at the University of Michigan ( U-M ) Medical School, in collaboration with researchers at Harvard's Brigham and Women's Hospital, have discovered a recurring pattern of scrambled chromosomes and abnormal gene activity that occurs only in prostate cancer. In a paper, published in ... (Articolo Completo)

Two enzymes, glyoxalase 1 and glutathione reductase 1, increase anxiety in mouse brains

Increasing the activity of two enzymes better known for their role in oxidative stress metabolism turns normally relaxed mice into " Nervous Nellies," according to research conducted at the Salk Institute for Biological Studies and reported in the journal Nature. Locally overexpressing either ... (Articolo Completo)

Flu chip may determine the genetic signatures of specific influenza strains from patient samples within hours

A " Flu Chip " has been developed at the University of Colorado at Boulder that can determine the genetic signatures of specific influenza strains from patient samples within hours. Tests on the new technology by the Centers for Disease Control and Prevention ( CDC ) in Atlanta showed the CU-B... (Articolo Completo)

Atherosclerosis is linked to inherent inability to repair vascular damage

Researchers at the Duke University Medical Center have demonstrated that the progression of the artery-clogging disease atherosclerosis is linked to the inability of specialized bone marrow cells to continuously repair damage to the arterial lining. The researchers also identified characteri... (Articolo Completo)

Ketogenic diet prevents seizures by enhancing brain energy production, increasing neuron stability

Although the high-fat, calorie-restricted ketogenic diet ( KD ) has long been used to prevent childhood epileptic seizures that are unresponsive to drugs, physicians have not really understood exactly why the diet works. Studies by a research team at Emory University School of Medicine show t... (Articolo Completo)

AKT blocks cancer cell motility and increases cancer cells' survival

In investigating the molecular mechanisms of cancer cell motility – the unique property that enables cancer to spread from its primary origin to other parts of the body – researchers have uncovered a surprising role for the AKT/PKB ( protein kinase B ) enzyme, providing important new insights int... (Articolo Completo)

Visual working memory depends on ability to filter out irrelevant information

The study by Edward Vogel, at the University of Oregon, is the first to demonstrate that awareness, or "visual working memory," depends on ability to filter out irrelevant information. " Until now, it's been assumed that people with high capacity visual working memory had greater storage but ... (Articolo Completo)

Teens with deletion syndrome confirm role of COMT gene in schizophrenia

A study in youth who are missing part of a chromosome is further implicating a suspect gene in schizophrenia. Youth with this genetic chromosomal deletion syndrome already had a nearly 30-fold higher-than-normal risk of schizophrenia, but those who also had one of two common versions of the sus... (Articolo Completo)

Air pollution can cause cardiovascular disease

Researchers at the New York University School of Medicine provide some of the most compelling evidence yet that long-term exposure to air pollution--even at levels within federal standards--causes heart disease. Previous studies have linked air pollution to cardiovascular disease but until now it... (Articolo Completo)

Intrinsically photosensitive retinal ganglion cells are active and functioning at birth

Researchers at Washington University School of Medicine in St. Louis have found that cells making up a non-visual system in the eye are in place and functioning long before the rods and cones that process light into vision. The discovery should help scientists learn more about the eye's non-v... (Articolo Completo)

RNA splicing occurs in nerve-cell dendrites

Researchers at the University of Pennsylvania School of Medicine have discovered that nerve-cell dendrites have the capacity to splice messenger RNA ( pre-mRNA ), a process once believed to only take place in the nucleus of cells. By uncovering this capability in dendrites, the investigators hop... (Articolo Completo)

Neuregulin-1 protects brain cells from damage resulting from stroke

A study conducted by researchers at Morehouse School of Medicine ( MSM ) and the Atlanta-based Center for Behavioral Neuroscience ( CBN ) found that a growth factor called neuregulin-1 protects brain cells from damage resulting from stroke. The finding, reported in the Journal of Cerebral Blo... (Articolo Completo)

PA-824, a promising tuberculosis drug

Researchers from the National Institute of Allergy and Infectious Diseases ( NIAID ), part of the National Institutes of Health ( NIH ), have determined how a promising drug candidate attacks the bacterium that causes tuberculosis. Published in Proceedings of the National Academy of Sciences (... (Articolo Completo)

How to reinvigorate immune response to chronic viral infection

The immune system's CD8 T cells become "exhausted" in their battle against persistent viral infection, and less effective in fighting the disease. In a study, published in the journal Nature, researchers at Dana-Farber Cancer Institute and Emory University have traced the problem to a gene th... (Articolo Completo)

The brain governs reproduction

Researchers at Howard Hughes Medical Institute have discovered a vast network of neurons in the brain of mice that governs reproduction and controls the effects of reproductive status on other brain functions. In their studies, the researchers found neural circuits that coordinate a complex i... (Articolo Completo)

Cancer linked to EGFR and ErbB2 proteins when present at high concentrations

Researchers at Harvard University have found that at abnormally high concentrations, two proteins implicated in many human cancers have the potential to spur indiscriminate biochemical signaling inside cells. Their finding may expand current understanding of oncogenesis -- that cancer arises wh... (Articolo Completo)