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Category: genetics – Page 6

PIK3CA inhibitor treatment for metastatic scrotal extramammary Paget’s disease: a case report and literature review

Background: Extramammary Paget’s disease (EMPD) is a rare intraepithelial adenocarcinoma that occurs in the genitals, axilla, and anus, where apocrine sweat glands are abundant. This disease is mainly characterized by localized lesions and rare distant metastasis. Scrotal Paget’s disease is a rare type of EMPD, and there is no standard treatment for metastatic EMPD.

Case Description: Here, we reported the genetic results of a patient with a PIK3CA gene mutation in scrotal Paget’s disease who developed multiple metastases to the lymph nodes, liver, and bones during adjuvant radiotherapy, as well as the results of treatment with a PIK3CA inhibitor. The latest advances in this field were also summarized. The treatment response was evaluated as stable disease (SD) after 6 courses of docetaxel plus tegafur (DS regimen) chemotherapy. Then, a second-line treatment, a PIK3CA inhibitor, WX390, was administered with tolerable toxicity. There was a treatment-induced increase in blood glucose level during treatment, and insulin was administrated with good control. The progression-free survival (PFS) was 3.9 months and the overall survival (OS) was 16 months.

Conclusions: PIK3CA is a commonly mutated gene in EMPD. To the best of our knowledge, this is the first case report of a PIK3CA inhibitor for the treatment of primary metastatic EMPD, and the treatment efficacy was good. PIK3CA inhibitors may be promising for the treatment of metastatic EMPD in the future.

EpInflammAge: Epigenetic-Inflammatory Clock for Disease-Associated Biological Aging Based on Deep Learning

We present EpInflammAge, an explainable deep learning tool that integrates epigenetic and inflammatory markers to create a highly accurate, disease-sensitive biological age predictor. This novel approach bridges two key hallmarks of aging—epigenetic alterations and immunosenescence. First, epigenetic and inflammatory data from the same participants was used for AI models predicting levels of 24 cytokines from blood DNA methylation. Second, open-source epigenetic data (25 thousand samples) was used for generating synthetic inflammatory biomarkers and training an age estimation model. Using state-of-the-art deep neural networks optimized for tabular data analysis, EpInflammAge achieves competitive performance metrics against 34 epigenetic clock models, including an overall mean absolute error of 7 years and a Pearson correlation coefficient of 0.85 in healthy controls, while demonstrating robust sensitivity across multiple disease categories. Explainable AI revealed the contribution of each feature to the age prediction. The sensitivity to multiple diseases due to combining inflammatory and epigenetic profiles is promising for both research and clinical applications. EpInflammAge is released as an easy-to-use web tool that generates the age estimates and levels of inflammatory parameters for methylation data, with the detailed report on the contribution of input variables to the model output for each sample.

RNA-seq outperforms DNA methods in detecting actionable cancer mutations

Hospital for Sick Children in Toronto researchers are reporting that targeted RNA sequencing can detect clinically actionable alterations in 87% of tumors and provide decisive findings where DNA-seq either fails, returns no variant, or is not informative.

Cancer treatments have seen tremendous improvements in recent years, in part due to highly specific targeting and .

DNA-based methods dominate molecular cancer diagnostics but struggle to detect and assess splice site consequences. RNA sequencing enables sensitive fusion detection and direct assessment of transcript-level disruption caused by splicing mutations.

Bacteria-based sensors deliver real-time detection of arsenite and cadmium in water

Researchers at Rice University have engineered E. coli to act as living multiplexed sensors, allowing these genetically modified cells to detect and respond to multiple environmental toxins simultaneously by converting their biological responses into readable electrical signals. This innovation opens the door to real-time, remote monitoring of water systems, pipelines and industrial sites with potential future applications in biocomputing.

A new study published in Nature Communications demonstrates an innovative method for the real-time, on-site detection of arsenite and cadmium at levels set by the Environmental Protection Agency.

This research, led by Xu Zhang, Marimikel Charrier and Caroline Ajo-Franklin, addresses a significant inefficiency in current bioelectronic sensors, which typically require dedicated communication channels for each target compound. The research team’s multiplexing strategy greatly enhances information throughput by leveraging bacteria’s innate sensitivity and adaptability within a self-powered platform.

Groundbreaking Study Identifies Four Biologically Distinct Autism Subtypes

Autism reveals multiple biological subtypes, each with unique genetic and developmental patterns. Researchers from Princeton University and the Simons Foundation have discovered four autism subtypes that are both clinically and biologically distinct. This breakthrough offers a deeper understandin

Researchers identify genetic marker that could guide brain cancer treatment

University of Kentucky Markey Cancer Center researchers have discovered a genetic biomarker that could help identify patients with glioblastoma most likely to benefit from the cancer drug bevacizumab.

The study, published in JCO Precision Oncology, found that brain tumors from patients treated with bevacizumab who lived longer were more likely to have a genetic change called CDK4 amplification. This suggests that testing for the could help oncologists identify patients most likely to respond well to bevacizumab treatment.

“The findings could help oncologists make more informed treatment decisions for , potentially sparing those unlikely to benefit from unnecessary side effects while ensuring those who might respond get access to the drug,” said John Villano, M.D., Ph.D., the study’s lead author and professor in the UK College of Medicine.

A new analysis of the neurocranium and mandible of the Skhūl I child: Taxonomic conclusions and cultural implications

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In a study published last week in the journal L’Anthropologie, researchers re-analyzed fragments of Skhūl I, the name for remains belonging to a likely female child between the ages of 3 and 5. While the individual is currently recognized as an anatomically modern human, Homo sapiens, its classification remains contentious, given that it has some Neanderthal-like features. Now, the new study suggests the child might have been a hybrid—and potentially had one Homo sapiens parent and one Neanderthal parent.

To reach this conclusion, the team conducted CT scans of the child’s neurocranium—the part of the skull that protects the brain—and jaw. They compared the resulting 3D models to remains of other Homo sapiens and Neanderthal children. In short, they found the neurocranium to be more similar to that of a modern human, while the jaw was more akin to a Neanderthal’s.

“The combination of features seen in Skhūl I may suggest that the child is a hybrid,” the researchers write in the study. “In the Middle Pleistocene, the Levant was the crossroad of gene flows between Indigenous lineages and other taxa from Africa and Eurasia, which is likely the explanation for Skhūl I anthropological.”

Their results align with genetic evidence indicating that modern humans and Neanderthals didn’t just cross paths—they interbred for thousands of years. In fact, some research has suggested Homo sapiens drove Neanderthals to extinction not with violence, but by absorbing them into their population through interbreeding. Regardless of the reason for Neanderthals’ demise, many humans have Neanderthal DNA today.

nouvelle analyse du neurocr ne et de la mandibule de l’enfant Skhūl I : conclusions taxonomiques et implications culturelles.

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Aging Well And Optimal Health: Role Of Nutrition (Featuring Emily Ho, PhD)

Join us on Patreon! https://www.patreon.com/MichaelLustgartenPhD

Discount Links/Affiliates:
Blood testing (where I get the majority of my labs): https://www.ultalabtests.com/partners/michaellustgarten.

At-Home Metabolomics: https://www.iollo.com?ref=michael-lustgarten.
Use Code: CONQUERAGING At Checkout.

Clearly Filtered Water Filter: https://get.aspr.app/SHoPY

Epigenetic, Telomere Testing: https://trudiagnostic.com/?irclickid=U-s3Ii2r7xyIU-LSYLyQdQ6…M0&irgwc=1
Use Code: CONQUERAGING

NAD+ Quantification: https://www.jinfiniti.com/intracellular-nad-test/

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GENETIC ENGINEERING, a Journey into the Future

This is a sci-fi documentary looking at the future of genetic engineering and how it applies to space exploration, astronauts, terraforming planets and even Earth.

What is DNA, and how can it be engineered. What is CRISPR, and the future technology used in genetic engineering and biotechnology.

Personal inspiration in creating this video came from: Jurassic Park (the book), and The Expanse TV show (the protomolecule).

Other topics in the video include: how genetic engineering can change food allergies, cryosleep astronauts using hibernation biology borrowed from bears, squirrels and hedgehogs, engineering plants for terraforming other planets, and entries from The Encyclopedia of the Future.

PATREON
The third volume of ‘The Encyclopedia of the Future’ is now available on my Patreon.

Visit my Patreon here: https://www.patreon.com/venturecity.

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