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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

Risk-reducing mastectomies lower breast cancer incidence and mortality in BRCA variant carriers

A study co-led by Professor Kelly Metcalfe of the Lawrence Bloomberg Faculty of Nursing, and researchers at the Familial Breast Cancer Research Unit at Women's College Hospital, finds risk-reducing mastectomies (RRM) in women with a BRCA1 or BRCA2 genetic variant, significantly reduces the risk of being diagnosed with breast cancer and lowers the probability of death.

16 Feb 2024

Evaluating a machine learning tool for predicting hospital-acquired acute kidney injury

Hospital-acquired acute kidney injury (HA-AKI) is a common complication in hospitalized patients that can lead to chronic kidney disease and is associated with longer hospital stays, higher health care costs and increased mortality.

16 Feb 2024

Lockdown delays in melanoma diagnosis cost Europe £6bn and thousands of lives

Delays in diagnosing melanoma due to Covid-19 lockdown may have contributed to over 100,000 years of life lost across Europe and over £6bn in costs, mainly indirectly due to loss of productivity, finds a new study led by UCL and University Hospital of Basel researchers.

16 Feb 2024

Risk of non-alcoholic fatty liver disease for cardiovascular disease and all cause death in patients with type 2 diabetes mellitus

Researchers investigated the link between non-alcoholic fatty liver disease in individuals with type 2 diabetes mellitus (T2DM) and all-cause death and cardiovascular disease.

16 Feb 2024

COVID-19 impacts the brain through body inflammation, research finds

Scientists still are not sure how neurological symptoms arise in COVID-19. Is it because SARS-CoV-2 infects the brain? Or are these symptoms the result of inflammation in the rest of the body?

16 Feb 2024

Heart attack survivors face higher risk of long-term health conditions

Having a heart attack significantly increases the risk of developing other serious long-term health conditions, a major new study shows.

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

Study highlights the need for urgent action on child hunger and malnutrition

Urgent action is needed to address the millions of children suffering from hunger and malnutrition worldwide, according to the authors of a study which tracked the health of children over 15 years.

16 Feb 2024

Ripples in the brain play key role in forming complex memories

Spatial navigation and spatial memory play a central role in our lives. Without these abilities, we would hardly be able to find our way around our surroundings and would find it difficult to remember past events.

16 Feb 2024

Antidepressant use during pregnancy linked to child brain development risks

A new study published in Nature Communications provides direct evidence that antidepressant use during pregnancy can impact a child's brain development and contribute to the risk of mental health disorders later in life.

16 Feb 2024

Miracle surgery saves man with rare brain bubble at NYU Langone

Ivor Parker and Karen Palaza have been together for 20 years and treat each day as if it were Valentine's Day.

15 Feb 2024

Gynecologic cancer patients and advocates unite at FWC Forum in San Diego

The Foundation for Women's Cancer (FWC) is pleased to host a Patient and Advocate Education Forum on Friday, March 15, 2024, 10 a.m. – 4:30 p.m. PT, in San Diego, CA, at the San Diego Convention Center the day before the start of the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women's Cancer.

15 Feb 2024

Study reveals lower birth rates on weekends and holidays in Japan

Significantly more babies were born on a weekday instead of weekend day or holiday, reveals a large-scale analysis of 21 million births in Japan over almost four decades published February 14, 2024 in the open-access journal PLOS ONE by Miho Sassa from the University of Tokyo, Japan, and colleagues.

15 Feb 2024

GV1001 exerts anti-aging effects in triple transgenic Alzheimer's mice

A new research paper was published on the cover of Aging (listed by MEDLINE/PubMed as "Aging (Albany NY)" and "Aging-US" by Web of Science) Volume 16, Issue 3, entitled, "GV1001 reduces neurodegeneration and prolongs lifespan in 3xTg-AD mouse model through anti-aging effects."

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

Innovative treatment increases survival of people with malignant mesothelioma, trial shows

An innovative treatment significantly increases the survival of people with malignant mesothelioma, a rare but rapidly fatal type of cancer with few effective treatment options, according to results from a clinical trial led by Queen Mary University of London.

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

New Blood Cancer Healing Center poised to redefine care standards

The Blood Cancer Healing Center, located at 3229 Burnet Avenue in Uptown Cincinnati, is poised to redefine care standards by offering comprehensive patient support and innovative treatments under one roof.

15 Feb 2024