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Category: sex – Page 2

Analysis of genomic heterogeneity and the mutational landscape in cutaneous squamous cell carcinoma through multi-patient-targeted single-cell DNA sequencing

Cutaneous squamous cell carcinoma (CSCC) is a prevalent skin cancer with aggressive progression that poses significant challenges, especially in metastatic cases. Single-cell DNA sequencing (scDNA-seq) has become an advanced technology for elucidating tumor heterogeneity and clonal evolution. However, comprehensive scDNA-seq studies and tailored mutation panels for CSCC are lacking.

We analyzed the genomic landscape of Chinese CSCC patients via a Multi-Patient-Targeted (MPT) scDNA-seq approach. This method combined bulk exome sequencing with Tapestri scDNA-seq. Mutations identified through bulk sequencing were used to design a targeted panel for scDNA-seq. Comparative analysis was conducted to explore the associations between specific gene mutations and clinical characteristics such as tumor stage and patient sex. Clonal evolution analysis was performed to understand the evolutionary trajectories of the tumors.

Bulk sequencing revealed a diverse spectrum of somatic mutations in CSCC tumors, with missense mutations being predominant. The top tumor mutations, such as those in NOTCH1, TP53, NOTCH2, TTN, MUC16, RYR2, PRUNE2, DMD, HRAS, and CDKN2A, presented similar frequencies to those reported in studies in Korean and Caucasian populations. However, the mutation frequencies of HRAS, TTN, MUC16 and MUC4 were significantly different from the Korean and Caucasian populations. Comparative analysis revealed associations between specific gene mutations and clinical characteristics such as tumor stage and patient sex. Clonal evolution analysis via scDNA-seq revealed distinct evolutionary trajectories and their potential correlation with tumor development and patient prognosis. Furthermore, scDNA-seq identified two low-frequency mutation clones, NLRP5 and HMMR, which play important roles in the clonal evolution of CSCC.

How hair and skin characteristics affect brain imaging: Making fNIRS research more inclusive

Functional near-infrared spectroscopy (fNIRS) is a promising non-invasive neuroimaging technique that works by detecting changes in blood oxygenation linked to neural activity using near-infrared light. Compared to fMRI and various other methods commonly used to study the brain, fNIRS is easier to apply outside of laboratory settings.

This technique requires study participants to wear a special cap fitted with optodes, which consist of light sources that emit near-infrared light into the scalp and detectors that measure the light that is reflected back. These measurements can be used to estimate blood oxygenation in the brain’s outer layers. Despite its potential for conducting research in everyday settings, the quality of signals collected using fNIRS is known to be influenced by biophysical factors.

A team of researchers at Boston University recently set out to better delineate the extent to which people’s and skin color, age and sex impact the quality of fNIRS signals picked up from their scalp.

Depression genetics differ by sex: Study find females carry higher risk than males do

Important genetic differences in how females and males experience depression have been revealed for the first time in findings that could pave the way for more targeted intervention and treatments.

In the study, published in Nature Communications, scientists found that contribute more to risk in than in males. The team discovered about twice as many genetic “flags” for depression in the DNA of females as they did in that of males.

“We already know that females are twice as likely to suffer from depression in their lifetime than males,” said Dr. Brittany Mitchell, Senior Researcher at QIMR Berghofer’s Genetic Epidemiology Lab. “And we also know that depression looks very different from one person to another. Until now, there hasn’t been much consistent research to explain why depression affects females and males differently, including the possible role of genetics.”

A single gene may explain why immune responses differ between men and women

A new study has uncovered a key difference between the immune system of males and females—and it comes down to a single gene. The study is published in The Journal of Immunology.

It is known that biological sex affects the function of the immune system, with women often being more severely affected by autoimmune conditions or allergic diseases.

Scientists from the University of York have now identified the gene Malat1 as a critical player in regulating immune responses in female immune cells, but not in males.

It’s not just how many, it’s when: People judge a potential partner’s sexual history by timing, not total number

A major international study has found that when it comes to choosing a long-term partner, people across the globe consider not just how many sexual partners someone has had, but also when those encounters took place.

This is the first time researchers have explored the timing of sexual history alongside quantity—offering a fresh perspective on human mating psychology. The study is published in the journal Scientific Reports.

Led by Swansea University, the study surveyed more than 5,000 participants from 11 countries across five continents. It found that people were generally less willing to commit to someone with a high number of past sexual partners but were more open if those encounters had become less frequent over time, suggesting a shift away from casual sex.

Season of birth shows slight association with depression in men but not women

Males born in summer months reported higher depression symptom scores than males born during other seasons, according to a study from Kwantlen Polytechnic University. Anxiety symptoms showed no association with season of birth for either sex.

Anxiety and remain among the most common mental disorders worldwide, with both conditions contributing to long-term disability, physical comorbidities, and substantial economic losses. A range of factors shape mental health across the lifespan, including housing, income, education, and age. Research into early-life exposures remains limited, particularly exposures shaped by environmental seasonality.

During gestation, exposure to temperature shifts, maternal diet, seasonal infections, and variation in daylight may influence neurodevelopment. Birth season has previously been associated with risk for psychiatric conditions including schizophrenia, bipolar disorder, and schizoaffective disorder. Studies examining and depression have produced mixed results, often without stratifying by sex.

Circadian disruption by night light linked to multiple cardiovascular outcomes

Flinders Health and Medical Research Institute researchers, along with colleagues in the UK and U.S., have linked brighter night-time light exposure to elevated risks of five major cardiovascular diseases.

Circadian rhythms govern fluctuations in blood pressure, heart rate, platelet activation, hormone secretion, and glucose metabolism. Long-term disruption of those rhythms in animal and human studies have produced myocardial fibrosis, hypertension, inflammation, and impaired autonomic balance. Previous research efforts relied largely on satellite-derived estimates or small cohorts using bedroom or wrist light sensors, leaving personal exposure patterns uncharted at population scale.

In the study, “Personal night light exposure predicts incidence of cardiovascular diseases in 88,000 individuals,” posted on medRxiv, researchers conducted a prospective cohort analysis to assess whether day and night light exposure predicts incidence of cardiovascular diseases and whether relationships vary with genetic susceptibility, sex, and age.

New research reveals how male and female brains process regret and change decisions

A traditionally overlooked type of RNA plays an important role in promoting resilience to depression—but only in females. According to a new study led by the Icahn School of Medicine at Mount Sinai, researchers have now discovered a novel role this molecule plays in how the female brain makes decisions. The authors revealed brain-region-specific and sex-dependent effects of this biomarker, translated from humans to animals, on how individuals make only certain types of choices. This study uncovered differences in how each sex decides whether to change their minds after making mistakes, including when to cut their losses and move on as well as how they process regrets about missed opportunities.

This research sheds important light on how specific types of decisions that could negatively impact mood engage the male and female brain in very different ways. The study, published July 11 in Science Advances, using laboratory animal models, helps uncover new biological and psychological mechanisms that may be linked to psychiatric vulnerabilities.

Women are twice as likely to develop depression than men. Furthermore, depression can manifest with different symptoms between the sexes, including alterations in negative rumination on the past. However, the neurobiological mechanisms underlying these differences remain unclear.

Known risk factors alone do not explain disease accumulation, finds study

As the population ages, multimorbidity, or when a patient has multiple diseases at once, is becoming increasingly common. The onset of one disease increases the risk of developing other diseases, making it necessary to investigate how a range of risk factors together affect such accumulation. Prior studies have focused on individual risk factors and related individual diseases.

A study explored how the risk factors measured from birth to middle age and unmeasured, or latent, factors covering the entire lifespan predict and explain the incidence of chronic diseases in eight organ systems from middle to old age: the cardiovascular, metabolic, gastrointestinal, musculoskeletal, respiratory, neurological and psychiatric systems, and the sensory organs.

The study, published in The Lancet Healthy Longevity journal, analyzed 22 risk factors, including age, sex, (e.g., size at birth, early childhood growth, childhood wartime evacuee status), socioeconomic factors (e.g., socioeconomic status in childhood, income in adulthood), lifestyle factors (e.g., smoking, , , diet), clinical measurements and biomarkers (e.g., body mass index, , blood glucose).

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