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New NIPT-based method reveals 33 pathogenic CNVs in the DMD gene

Researchers developed a new NIPT-based method that reveals 33 pathogenic copy number variations (CNVs) in the Duchenne muscular dystrophy (DMD) gene. This study provides valuable insights into the frequency and spectrum of maternal CNV carriers in the Chinese population.

SourceBGI Genomics·JournalClinical and Translational Medicine·TypeData/statistical analysis·DateJul 17, 2024

Glucagon-like peptide 1 receptor agonists and 13 obesity-associated cancers in patients with type 2 diabetes

Researchers found GLP-1 receptor agonists lower risks of certain obesity-associated cancers in patients with type 2 diabetes, suggesting potential benefits for cancer prevention in high-risk populations. The study provides preliminary evidence supporting further preclinical and clinical studies to prevent specific obesity-linked cancers.

SourceJAMA Network·JournalJAMA Network Open·DateJul 5, 2024

Editorial: Genomics has more to reveal

A new editorial paper discusses molecular and cytogenetic analyses used to identify distinct subtypes of acute myeloid leukemias (AML) and myelodysplastic syndromes (MDS). Researchers found that around 15% of AML cases remain genetically unclassifiable, emphasizing the need for further research.

SourceImpact Journals LLC·JournalOncotarget·TypeCommentary/editorial·DateJul 2, 2024

City of Hope study suggests changing the gut microbiome improves health outcomes for people newly diagnosed with metastatic kidney cancer

Researchers found that a live biotherapeutic product CBM588, when taken orally, can improve health outcomes in people with metastatic kidney cancer. The study, published in Nature Medicine, suggests that the agent may enhance effectiveness of FDA-approved cancer immunotherapies by adjusting the gut microbiome.

SourceCity of Hope·JournalNature Medicine·TypeRandomized controlled/clinical trial·DateJun 28, 2024

Hope for long-term antidepressant users as study shows half can taper off drugs with simple support

A recent study published in JAMA Network Open reveals that nearly half of long-term antidepressant users can successfully taper off their medication with the help of general practitioner support and internet or telephone helplines. The study found lower rates of depression, fewer withdrawal symptoms, and improved mental wellbeing among...

SourceUniversity of Southampton·JournalJAMA Network Open·TypeRandomized controlled/clinical trial·DateJun 26, 2024

Previously uncharacterized parasite uncovered in fish worldwide

A new group of parasites, ichthyocolids, have been discovered in many marine fish species around the world, according to a recent study published in Current Biology. The parasite is widespread and has been found in all oceans, with potential implications for commercial fishing and oceanic food webs.

Treating rare skin diseases by transplanting healthy skin

Researchers from Nagoya University have successfully treated rare genetic skin disorders epidermolytic ichthyosis (EI) and ichthyosis with confetti (IWC) by transplanting genetically healthy skin to inflamed areas. Transplantation of healthy skin has been used as a treatment option for severe burn injuries.

SourceNagoya University·JournalBritish Journal of Dermatology·DateJun 10, 2024

Immunotherapy before surgery very successful in treating colorectal cancer

A short course of immunotherapy prior to surgery was highly effective in treating colon cancer, with 95% of patients showing significant tumor reduction or complete elimination. The treatment also showed promising results in preventing cancer recurrence and metastasis over a two-year follow-up period.

SourceNetherlands Cancer Institute·JournalNew England Journal of Medicine·TypeRandomized controlled/clinical trial·DateJun 5, 2024

Genes driving age-related blood cell mutations uncovered

Scientists have discovered 17 new genes involved in clonal haematopoiesis, a process associated with ageing linked to increased risks of blood cancers. The findings highlight the clinical significance of these genes in driving mutant blood cell clones, offering new avenues for studying disease development and promoting healthier ageing.

SourceWellcome Trust Sanger Institute·JournalNature Genetics·TypeObservational study·DateMay 14, 2024

Five-year treatment with tenofovir alafenamide achieves high rates of viral suppression, alanine aminotransferase normalization, and favorable bone and renal safety in Chinese chronic hepatitis B patients

The 5-year TAF treatment efficacy was high and similar to that of 3-year TDF followed by 2-year TAF in Chinese chronic hepatitis B patients. Favorable effects on bone and renal parameters were sustained with TAF treatment alone and were observed following the switch from TDF to TAF.

SourceXia & He Publishing Inc.·JournalJournal of Clinical and Translational Hepatology·DateMay 7, 2024

Inflammation-reducing drug shows no benefit for dry age-related macular degeneration in NIH trial

A phase II clinical study found that minocycline did not slow the expansion of geographic atrophy regions or vision loss in people with dry age-related macular degeneration. Previous studies have shown that minocycline can reduce inflammation and microglial activity in the eye, but it has not previously been tested for this condition.

SourceNIH/National Eye Institute·JournalJAMA Ophthalmology·TypeExperimental study·DateMar 21, 2024

Exploring the effectiveness of a novel pain management device for endometriosis pain

Researchers investigate the effectiveness and safety of the Angel Touch device (AT-04) in managing endometriosis-related pain. The study, led by Associate Professor Hiroshi Ishikawa at Chiba University, aims to assess the device's ability to alleviate pain and improve quality of life for women with the condition.

SourceChiba University·JournalReproductive Health·TypeRandomized controlled/clinical trial·DateMar 7, 2024

Study on extremely preterm infants provides important healthcare knowledge

A large clinical study led by Linköping University found no difference in the risk of severe complications between breast milk-based and cow's milk-based enrichment for extremely preterm infants. The study included 228 infants and found that both groups had a similar incidence of necrotising enterocolitis, sepsis, and death.

SourceLinköping University·JournalEClinicalMedicine·TypeRandomized controlled/clinical trial·DateJan 2, 2024

Third-generation anti-CD19 CAR T-cells demonstrate efficacy without neurotoxicity in B-cell lymphoma phase 1 clinical trial

A phase 1 clinical trial demonstrates the efficacy of third-generation anti-CD19 CAR T-cells in treating relapsed or refractory B-cell non-Hodgkin lymphomas without causing neurotoxicity. The study also shows a robust response rate of 52% and improved safety profile compared to previous CAR T-cell therapies.

SourceMalaghan Institute of Medical Research·JournalBlood·TypeExperimental study·DateDec 11, 2023

Novel screening tool and recovery program may help reduce mental health problems after trauma

A novel mental health risk screen for hospitalized patients accurately predicts mental health outcomes, with 10 items correctly identifying 75% of those who later developed mental health issues. A tailored recovery program can also be effective in reducing mental health problems after trauma, increasing health equity among historically...

SourceAmerican College of Surgeons·JournalJournal of the American College of Surgeons·DateDec 1, 2023

Chinese Medical Journal article reveals key insights on the trends of asthma mortality

A recent study analyzed asthma mortality rates in China and the US from 1990 to 2019, revealing substantial differences in mortality rates and risk factors. The study found that smoking was a leading risk factor for asthma mortality in China, while high body mass index (BMI) was a larger public health challenge in the US.

SourceCactus Communications·JournalChinese Medical Journal·TypeData/statistical analysis·DateNov 22, 2023

Does stem cell transplantation benefit patients with knee osteoarthritis?

A systematic review and meta-analysis of 16 studies involving 875 patients with knee osteoarthritis found significant reductions in patient-reported pain from the third month onwards. Stem cell treatment was most effective when using patient's own fat-derived stem cells, leading to better pain alleviation and recovery of joint function.

SourceWiley·JournalJournal of Orthopaedic Research®·DateNov 22, 2023

Sight loss in working-age people is under-researched

A new study by Anglia Ruskin University and University of Oxford highlights the lack of clinical research on severe sight impairment (SSI) among working-age individuals in the UK. The study finds that inherited retinal disorders, such as IRDs, are under-researched despite being a leading cause of SSI certifications in this population.

SourceAnglia Ruskin University·JournalClinical Ophthalmology·TypeLiterature review·DateNov 2, 2023

RCSI study shows survival benefit of augmentation therapy for people with the genetic lung condition AATD

A new study by RCSI University of Medicine and Health Sciences found that boosting levels of a deficient protein improves survival rates for people with severe alpha-1 antitrypsin deficiency. The research, which tracked health data from over 600 patients, showed a clear survival benefit from augmentation therapy.

SourceRCSI·JournalAmerican Journal of Respiratory and Critical Care Medicine·DateNov 1, 2023