Human Genomics and Proteomics is an open-access journal publishing original and review articles on human genomics and proteomics. The journal's affiliation with the FINDbase database provides a platform for discussing research on personalized medicine, systems biology, and genetic disorders across various populations worldwide.
Researchers have found that aminoglycosides and a new compound NB30 can suppress nonsense mutations in Usher syndrome, potentially delaying vision loss. The study aims to develop therapy to delay the progression of USH1-related disease.
Researchers have determined the masses of the coldest class of brown dwarfs for the first time outside the solar system. The team used ultrasharp images from the Keck Telescope and Hubble Space Telescope to measure the sizes and durations of binary systems, revealing two new brown dwarf binaries with masses as low as 6% of the sun's mass.
A daily dose of probiotic can modify the immune system's response to grass pollen, a common cause of seasonal hay fever. This change was observed in a pilot study with small numbers of patients, but it may not have an immediate effect on symptoms.
Researchers found that genetic flaws affecting enzyme efficiency can be restored with supplements, offering a personalized approach to health. The study, supported by DARPA, aims to identify variants of enzymes that can be enhanced with vitamin supplementation.
Researchers found that frequent temperature measurements can alter the behavior of quantum systems, allowing them to heat up when hotter than the bath and cool down when colder. This effect is due to decoupling from the heat bath during measurement, introducing energy into the system and altering its temperature.
Researchers found that only two strains of Salmonella are common in garden birds, which are sensitive to antibiotics. This contrasts with the more resistant strains found in livestock and humans, highlighting the need for alternative approaches to infection control.
A new vaccine targets glioblastoma multiforme, doubling survival time and more than quadrupling progression-free survival. The vaccine has caused virtually no side effects, making it a promising therapy for this deadly brain tumor.
Researchers with the Laser Interferometer Gravitational Wave Observatory Scientific Collaboration have ruled out emission of gravitational waves as a cause for the Crab Pulsar's spin braking. The study found that no more than 4% of the pulsar's energy loss is attributed to gravitational wave emission.
A study published in Environmental Health found that drinking tap water disinfected by chlorine while pregnant may increase the risk of certain birth defects. Exposure to high levels of chlorination by-products was associated with a significant increased risk of ventricular septal defects, cleft palate, and anencephalus.
Researchers identified genetic variants that influence treatment outcome for smoking cessation treatments, including nicotine replacement therapy (NRT) and bupropion. These variants may help tailor treatment to individual smokers, increasing the likelihood of success.
A new study published in Pediatrics found that 80% of pediatric patients with low bone density had vitamin D insufficiency. Vitamin D deficiency can contribute to low bone mass and worsen underlying metabolic bone disease if left untreated, according to the study's lead author.
A nationwide study found an estimated 572,580 bunk bed-related injuries during a 16-year period, resulting in nearly 36,000 cases annually. The majority of injuries occurred among males and children younger than 6 years old, with fractures being the third most common injury.
The US is importing more food from developing nations, putting consumers at risk of foodborne diseases due to varying sanitary standards. Contaminants like Salmonella are commonly found in imported seafood and produce.
Research identifies PKG as essential molecule for malaria parasite's reproductive cycle. The protein is necessary for 'rounding up' transformation, allowing fertilization to occur.
Researchers discovered a diverse community of beneficial bacteria within chicken embryos, suggesting that birds acquire these microbes from their egg environment. This finding could lead to improved poultry production and reduced risk of foodborne illness by administering probiotics in ovo.
Researchers at UPMC Cancer Institute have developed a new treatment combination that combines chemotherapy, biotherapy, and radiotherapy to treat pancreatic cancer. The study found that this regimen is safe and may be beneficial for patients, with significant tumor shrinkage before surgery.
A new study investigates the evolution of genomic imprinting in mammals, finding that different regions became imprinted at different times during mammalian evolution. This suggests that changes were in response to selection pressures and are adaptive.
Researchers at Duke University have successfully assembled five micro-robots into a self-organized structure using global control and slight variations in device dimensions. The microrobots, measuring just 100 times smaller than previous designs, can move, turn, and circle together with precision.
Researchers identify increased fatty acids and phospholipids in CSF of SIV-infected monkeys, linked to CNS damage. The study provides insights into mechanisms of CNS damage in HIV patients using global metabolomics approach.
A team of physicists at The City College of New York has discovered that the random packing of hard spheres in three dimensions cannot exceed a density limit of 63.4% of the volume. This finding has potential applications in pharmaceuticals, cosmetics, and other industries where powders are mixed to achieve homogeneity.
Advances in super-resolution imaging technologies, such as STED, STORM, PALM, and structured illumination microscopy, have broken the diffraction limit of light, enabling the imaging of cellular structures as small as 50 nanometres. These techniques are driven by both biological and physical needs, inspiring new questions and discoveries.
A new study found that boiling cubed or shredded potato samples reduced potassium levels by 50% and 75%, respectively. Leaching had little effect on mineral content. Boiling thinly sliced potatoes can help renal failure patients reduce their mineral intake while maintaining other nutritional qualities.
The Product Quality Lifecycle Implementation (PQLI) initiative aims to address pharmaceutical development, quality risk management, and pharmaceutical quality systems. The journal publishes high-quality papers on innovative research and applied technologies in the pharmaceutical industry.
Researchers found that mouse ovaries undergo significant gene expression changes as they age, unlike the limited changes seen in testes. A calorie-restricted diet reversed some of these aging effects, particularly in females.
A team of researchers at The Scripps Research Institute identified molecular changes in the cerebrospinal fluid of monkeys infected with SIV, which can cause CNS damage. This approach may provide new information about other neurodegenerative and neuropsychiatric disorders.
A fatal mine collapse in Utah's Crandall Canyon coal mine was actually a massive cave-in that covered an area of approximately 50 acres. New calculations reveal the disaster began near where miners were excavating and quickly grew to four times its initially estimated size.
Researchers found that metastatic prostate tumors produce significant levels of testosterone, fueling cancer growth despite low circulating androgen levels. This discovery suggests targeting the tumor itself, rather than systemic hormone suppression, to develop more effective treatments for all stages of prostate cancer.
A recent study highlights the importance of understanding C. difficile's toxins and virulence factors, which can cause severe hospital-acquired infections. The research also explores the bacteria's transmission, symptoms, and treatment options, including the development of a potential 'designer' probiotic.
A new University of Melbourne study found that nearly one in five working women and one in eight working men experience preventable depression caused by job stress. The study estimates that more than 21,000 cases of preventable depression are caused by job stress each year.
Scientists have discovered two novel compounds produced by soil bacteria that show promise in combating MRSA infections and cancer. The breakthroughs come after years of genome mining, which identifies pathways to produce new compounds from microbial DNA sequences.
A prototype of a sturdy bamboo house was built in under two weeks with a modular design that can be adjusted for specific family needs. The structure is made from processed bamboo veneer sheets and is fireproof, insulated for heat and sound, and sustainable.
Current prenatal biochemical screening tests only detect half of chromosomal abnormalities, including trisomies and deletions. This limitation emphasizes the importance of counseling patients on the limitations of these tests to make informed decisions about invasive diagnostic testing.
Researchers combined two biotherapies to induce an anti-tumor response, showing a 19% overall response rate in stage 4 melanoma patients. The treatment was found to be tolerable in terms of toxicity.
A study of 97 couples found that fathers are more involved in infant care when their wives provide active encouragement, regardless of their own beliefs or the quality of parenting. Encouragement from mothers can either foster or limit fatherly participation, with mothers acting as 'gatekeepers' to their involvement.
A genetic mutation in the VLDLR gene is implicated in quadrupedal locomotion in four families affected by Unertan syndrome. Despite shared DNA regions across chromosomes, distinct genes are responsible for the condition in each family.
Ecosystems are increasingly connected by human activities such as transportation and land use. This can lead to
Researchers at the University of Guelph found that first-year college students gained an average of 5.29 pounds, not 15 pounds, over six months. The study also highlights the importance of educating employees on food safety measures to reduce the risk of foodborne illness in restaurants.
A new study found that people who choose not to express their thoughts and feelings after experiencing a collective trauma, such as a school shooting or terrorist attack, may be better off than those who do talk about their feelings. The research suggests that it's okay to keep emotions inside in the immediate aftermath of a tragedy.
A pilot study at Duke University Medical Center found that disabling a protein on melanoma cells makes them more vulnerable to chemotherapy, resulting in complete responses in 8 out of 16 patients. The compound ADH-1 was tested in combination with chemotherapy and showed promising results.
Researchers found that treatments for childhood Hodgkin's lymphoma increase the risk of dying from a second cancer or cardiovascular disease in adulthood. Women are especially vulnerable to breast cancer, while men are at risk of cardiovascular events.
Physician-scientists from NewYork-Presbyterian/Weill Cornell presented Phase II trial data showing a monoclonal antibody targeting prostate cancer cells effectively reduces PSA levels in patients with late-stage metastatic disease. The researchers also present results on RAD001, which slows cancer progression in recurrent endometrial c...
This study found that AA and NA attendance benefited adolescents, even after early discontinuation, with those who attended more meetings having better outcomes. The organizations' focus on abstinence and social support resonated well with youth with severe addiction problems.
ALS researchers have identified a molecular pathway where mutated SOD1 leads to accumulation of malformed proteins in motor neurons, causing ER stress and cell death. Inactivating key factors in this pathway may mitigate neurodegeneration and prolong survival in mouse models.
A randomized, controlled trial found acupuncture significantly reduced pain, dysfunction, and dry mouth in head and neck cancer patients after neck dissection. The study also showed improvements in xerostomia, a common problem among cancer patients following radiotherapy.
Researchers at Indiana University have made a significant discovery linking cognitive function to postural stability in elderly individuals. The study found that a brief questionnaire can effectively identify those at risk of falls, allowing for early intervention and prevention. Additionally, the team is exploring stretches and exerci...
A new study has found that drinking at an early age can lead to later alcohol dependence. Women born after 1944 who began drinking earlier were more likely to develop alcohol dependence due to increased social and economic independence.
The Brown Argus butterfly has expanded its range northwards in Britain, likely due to warmer temperatures. This shift may allow the species to evade some of its natural enemies, such as parasitoids.
Researchers at Jefferson University have identified a key signaling protein that enables prostate cancer cells to metastasize. Blocking this protein, Stat3, can prevent prostate cancer from spreading, offering new potential therapies.
Geneticist James P. Evans cautions against rushing into genetic testing, citing limited evidence of improved health outcomes and potential patient harm. Despite advances in genomics, Evans believes the technology has not yet been proven to yield meaningful information for individualized health advice.
Research finds that a baby-faced CEO is perceived as more honest in minor crises but not in serious ones. The 'baby-face effect' is unconscious and can be overcome by showing alternative images.
Researchers at the Burnham Institute have demonstrated successful enzyme replacement therapy to prevent hypophosphatasia in mice, paving the way for future clinical trials. The treatment maintains healthy bone mineral density and preserves skeletal structures, offering new hope for patients with this genetic disorder.
A growing number of 'pseudoepidemics' of false-positives for TB are occurring in the US Army due to universal testing with an inaccurate TST. The problem is most prevalent in regions with high TB rates, such as Iraq and Afghanistan.
A new study found that whole milk is just as effective as a diluted barium suspension in imaging the gastrointestinal tract via CT scans. The study also revealed that whole milk was less expensive, had better patient acceptance, and fewer adverse symptoms compared to the barium suspension.
Researchers at MIT create a membrane that can absorb up to 20 times its weight in oil, and can be recycled for future use. The oil itself can also be recovered, making it an important tool in the cleanup of oil spills.
Maarten Schmidt's discovery of high redshifts in quasar 3C273 led to a new understanding of quasars as compact halos surrounding massive black holes. He shares the award with Donald Lynden-Bell for their contributions to astrophysics.
Dr. Joan M. Centrella and Dr. John G. Baker received the John C. Lindsay Memorial Award for their pioneering computer simulations of black hole mergers, a crucial step towards understanding cosmic evolution. The simulations have spurred rapid progress in predicting observable signatures of these events.
Nautilus pompilus demonstrated short-term memory lasting up to an hour before fading away, but remembering it again after 6 hours. The living fossil's memory was comparable to that of modern cephalopods, challenging the assumption that complex brains are necessary for memory.
A study found that people with nonfamilial schizophrenia harbor eight times more spontaneous mutations than healthy controls, primarily affecting brain development pathways. This suggests that rare genetic variations contribute to the vulnerability of individuals without a family history of the illness.
New research reveals that overheating and thermal stress can contribute to the development of Sudden Infant Death Syndrome (SIDS). The study, led by Dr. Shabih Hasan, found that increased ambient temperatures, smoking during pregnancy, and exposure to cigarette smoke can all increase the risk of SIDS.