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Exome sequencing unravels complex genetic diagnoses in growth disorders

In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, such as short stature, thin tooth enamel (dental enamel hypoplasia), moderate mental deficiency, speech delay, asthma, mildly altered blood sugar, and a history of recurring infections in infancy.

16 Feb 2024

Urgent call for increased measles vaccination in the EU/EEA

Measles cases are expected to continue increasing in the European Union and European Economic Area (EU/EEA) in the coming months due to sub-optimal vaccination coverage for measles-containing vaccines (MCV) in a number of EU/EEA countries, the high probability of importation from areas experiencing high circulation and the fact that the coming months represent the seasonal peak of the virus.

16 Feb 2024

Transforming Cancer Care: Aventa Genomics and the Future of Genomic Testing

In this interview, Chris Roberts of Aventa Genomics highlights the groundbreaking Aventa FusionPlus test, detailing its superior ability to detect gene fusions in cancer diagnostics and its pivotal role in advancing personalized oncology treatments.

From Aventa Genomics 16 Feb 2024

HBO's 'The Last of Us' fungal apocalypse, science fiction, not future reality

Researchers in "Emerging Infectious Diseases" debunk the scenario of a global fungal pandemic as depicted in HBO's 'The Last of Us,' citing slow fungal evolution and current pathologies as barriers to such an event.

15 Feb 2024

Study reveals limitations of AI in early sepsis detection

Proprietary artificial intelligence software designed to be an early warning system for sepsis can’t differentiate high and low risk patients before they receive treatments, according to a new study from the University of Michigan.

15 Feb 2024

Experts join forces to define recommendations for biomarker-based diagnosis of Alzheimer’s disease

A multidisciplinary working group of 22 experts from eleven European scientific associations have joined forces to define recommendations for the effective and individualized use of biomarkers for the diagnosis of Alzheimer’s disease in memory clinics.

15 Feb 2024

Rising mammal infections signal alarm for potential H5N1 pandemic

Comprehensive review highlights the increasing trend of mammal-to-mammal transmissions of H5N1 avian influenza, emphasizing the need for vigilant surveillance to prevent a potential pandemic.

14 Feb 2024

Breakthrough $20 million OCT project aims to revolutionize eye health screening

In the United States, more than one-fourth of adults over age 40 have an eye disease, including glaucoma, cataracts or age-related macular degeneration, or a chronic health condition that affects the eyes, such as diabetic retinopathy.

14 Feb 2024

UK patients want better access to early and accurate diagnostic tests, survey shows

UK patients want better access to early and accurate diagnosis of health problems, according to new survey data from the Patients Association.

13 Feb 2024

Neural prosthetic device successfully used to recall specific memories

A team of scientists from Wake Forest University School of Medicine and the University of Southern California (USC) have demonstrated the first successful use of a neural prosthetic device to recall specific memories.

13 Feb 2024

Novel protocol developed to rapidly diagnose eye stroke and expedite care

Ophthalmologists at New York Eye and Ear Infirmary of Mount Sinai (NYEE) have created a novel protocol to rapidly diagnose eye stroke and expedite care to prevent irreversible vision loss.

13 Feb 2024

Researchers develop groundbreaking technique to detect chemoresistance using ultrasound

Researchers at Purdue University have developed a technique to better predict chemotherapy resistance in canines and humans.

13 Feb 2024

Compact photoacoustic sensing: A game-changer in biomedical diagnostics

In the realm of biomedical sciences, the quest for accurate and efficient diagnostic tools is ever-evolving. One such promising innovation making waves is the photoacoustic (PA) technique.

13 Feb 2024

Glial fibrillary acidic protein levels pinpoint future dementia risk a decade in advance

Researchers identify GFAP as a potent biomarker for predicting dementia risk over a decade before clinical diagnosis, underscoring its potential for early screening and intervention in asymptomatic individuals.

13 Feb 2024

Novel assay enhances pediatric cancer treatment by identifying clinically relevant gene fusions

Identification of specific gene fusions is critical for the successful targeted treatment of pediatric cancer patients.

13 Feb 2024

Mount Sinai receives $4.1 million to develop AI-powered model for predicting sleep apnea outcomes

Mount Sinai researchers have been awarded a five-year, $4.1 million grant from the National Heart, Lung, and Blood Institute at the National Institutes of Health to develop and study an artificial intelligence (AI)-powered model that predicts adverse outcomes of obstructive sleep apnea.

12 Feb 2024

Study finds erectile dysfunction drugs linked to lower Alzheimer's risk

Researchers evaluated the effect of phosphodiesterase-5 inhibitor (PDE5I) initiation compared to non-use and Alzheimer's disease development risk among males suffering from erectile dysfunction.

12 Feb 2024

CRISPR could be used for faster monkeypox testing

Mpox, formerly known as monkeypox, is a rare viral disease that is spread through physical contact between people.

12 Feb 2024

CDC releases new syphilis testing guidelines to combat rising cases

The CDC's new guidelines in the Morbidity and Mortality Weekly Report outline comprehensive testing protocols for syphilis diagnosis, emphasizing the combined use of nontreponemal and treponemal tests to improve detection and management of the disease in the U.S.

11 Feb 2024

Long COVID in children: A closer look reveals lasting impacts

A comprehensive review in Pediatrics highlights the significant impact of post-acute sequelae of SARS-CoV-2 (PASC) in children, revealing a wide range of long-term symptoms and the need for further research on its prevalence, risk factors, and mechanisms.

11 Feb 2024