Article
Medicine, General & Internal
Anneli Uuskuela, Marek Oja, Sirli Tamm, Anna Tisler, Made Laanpere, Lee Padrik, Mari Nygard, Sulev Reisberg, Jaak Vilo, Raivo Kolde
Summary: Text mining and natural language processing techniques were used to detect precursors to cervical cancer in Estonia. The most frequently detected HPV types in normal-to-high grade precancerous lesions were found to be a-9 phylogenetic group HPV 16, 31, 33, 52 and a-7 phylogenetic group HPV 18.
Article
Multidisciplinary Sciences
Maroun Bou Sleiman, Suheeta Roy, Arwen W. Gao, Marie C. Sadler, Giacomo V. G. von Alvensleben, Hao Li, Saunak Sen, David E. Harrison, James F. Nelson, Randy Strong, Richard A. Miller, Zoltan Kutalik, Robert W. Williams, Johan Auwerx
Summary: This study provides insights into the determinants of health, disease, and aging by examining DNA variants that affect life span. The researchers identified sex-specific genetic effects on life span and gene expression, and validated several genes as conserved longevity genes. The findings underscore the importance of early access to nutrients and early growth for longevity.
Article
Biology
Wei Fan, Shuang Tang, Xiaojuan Fan, Yi Fang, Xiaojiang Xu, Leping Li, Jian Xu, Jian-Liang Li, Zefeng Wang, Xiaoling Li
Summary: The study reveals that sphingolipid metabolism is transcriptionally controlled by SIRT1 in mESCs, and deletion of SIRT1 leads to accumulation of sphingomyelin, affecting membrane fluidity and neural differentiation. This key regulatory mechanism may provide insights for potential treatment of human neurological diseases through pharmacological manipulation of SIRT1-mediated sphingomyelin degradation.
Article
Immunology
Romain Ragonnet, Jennifer A. Flegg, Samuel L. Brilleman, Edine W. Tiemersma, Yayehirad A. Melsew, Emma S. McBryde, James M. Trauer
Summary: TB-specific mortality rates are around 15 times higher for SP-TB than for SN-TB patients. Despite being less infectious, SN-TB may be responsible for equivalent numbers of secondary infections as SP-TB due to its much longer duration.
CLINICAL INFECTIOUS DISEASES
(2021)
Article
Entomology
Guang-Yun Li, Zhi-Qiang Zhang
Summary: This study focused on the aging patterns of two-spotted spider mites and found significant lifespan extension effects in females under dietary restriction and delayed mating, while the opposite was observed in males. Path analysis revealed no clear trade-offs between mite survival and reproduction traits. The additive effects of dietary restriction and delayed mating in extending the lifespan of female spider mites were confirmed, showing that diet restriction is a robust anti-aging intervention, and later onset of reproduction can prolong adult lifespan in females.
Article
Genetics & Heredity
Justin M. Mehl, Jonathan Gelfond, John C. Carey, Jannine D. Cody
Summary: Mortality and cause of death in individuals with trisomy 18 who survived past the first year of life were analyzed in this study. Factors associated with mortality were identified, and it was found that individuals with trisomy 18 who died after the first year of life had a higher prevalence of infectious and postoperative causes of death compared to those who died before the first year of life.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Oncology
Junyang Zhao, Zhaoxun Feng, Brenda L. Gallie
Summary: Treatment abandonment is a leading cause of death in children with retinoblastoma worldwide. The natural progression of untreated retinoblastoma is rapid, with significant mortality rates within a short period of time, emphasizing the importance of timely treatment for patients with this disease. The study findings provide valuable insights for clinicians and parents to make informed decisions in managing retinoblastoma in children.
Article
Multidisciplinary Sciences
Hui Li, Yuanmei Shi, Zahoor Ahmed, Abbas Khan, Kang Xu, Xiaoping Yin, Nawsherwan, Hong Zhang
Summary: The incidence rates of adverse perinatal outcomes have significantly decreased in Hubei province over the past 9 years. However, both extremes of maternal age groups and young and old cohorts are associated with a higher risk of preterm birth, perinatal mortality, and congenital defect.
SCIENTIFIC REPORTS
(2022)
Article
Obstetrics & Gynecology
Beth Ellen Brown, Prakesh S. Shah, Jehier K. Afifi, Rebecca L. Sherlock, Mohammad A. Adie, Luis A. Monterrosa, Joan M. Crane, Xiang Y. Ye, Walid El-Naggar
Summary: This study compared the short-term neonatal outcomes of delayed cord clamping and early cord clamping in small for gestational age preterm infants, finding that delayed cord clamping was associated with reduced odds of mortality or major morbidity. Many benefits of delayed cord clamping in small for gestational age preterm infants were similar to those in non-small for gestational age preterm infants.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2022)
Article
Multidisciplinary Sciences
Natasha L. Pritchard, Susan P. Walker, Alexandra R. Mitchell, Stephen Tong, Anthea C. Lindquist
Summary: Sex-specific birthweight charts can lead to re-classification of infants and impact perinatal outcomes.
Article
Biology
Saumil Sethna, Wadih M. Zein, Sehar Riaz, Arnaud Pj Giese, Julie M. Schultz, Todd Duncan, Robert B. Hufnagel, Carmen C. Brewer, Andrew J. Griffith, T. Michael Redmond, Saima Riazuddin, Thomas B. Friedman, Zubair M. Ahmed
Summary: Usher syndrome type I is a rare genetic disorder characterized by deafness, vestibular areflexia, and progressive retinal degeneration. A specific gene variant is prevalent in Ashkenazi Jews and accounts for a majority of USH1 cases. Studies in mouse models have shown similar visual deficits, suggesting potential therapeutic targets for preserving vision in USH1F patients.
Article
Oncology
Jason L. Oke, Sarah Jo Brown, Chris Senger, H. Gilbert Welch
Summary: The NHS Long Term Plan for cancer aims to increase early-stage diagnoses and long-term survival rates. However, the current measurement methods are flawed and do not reflect outcomes that matter to patients. Switching to unbiased population-based measures is essential for reducing late-stage incidence and mortality in cancer care.
BRITISH JOURNAL OF CANCER
(2023)
Article
Cell Biology
Ege Sarikaya, Nesrin Sabha, Jonathan Volpatti, Emanuela Pannia, Nika Maani, Hernan D. Gonorazky, Alper Celik, Yijng Liang, Paula Onofre-Oliveira, James J. Dowling
Summary: XLMTM is a severe monogenetic disorder of the skeletal muscle caused by mutations in the MTM1 gene. A study of Mtm1 KO mice revealed age-associated changes in gene expression, mitochondrial function, myofiber size, and key molecular markers, providing important insights into the disease pathomechanisms.
DISEASE MODELS & MECHANISMS
(2022)
Article
Obstetrics & Gynecology
Nathan R. Blue, Amanda A. Allshouse, William A. Grobman, Robert C. Day, David M. Haas, Hyagriv N. Simhan, Samuel Parry, George R. Saade, Robert M. Silver
Summary: This study aimed to identify factors independently associated with perinatal morbidity among small for gestational age (SGA) neonates and to create predictive models for perinatal morbidity based on the timing of information availability. Through the analysis of a deeply phenotyped cohort of nulliparous women, two models were developed with moderate-good prediction of perinatal morbidity among SGA neonates, demonstrating the importance of considering various maternal factors in predicting neonatal outcomes.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2022)
Article
Multidisciplinary Sciences
Congwu Chi, Walter E. Knight, Andrew S. Riching, Zhen Zhang, Roubina Tatavosian, Yonghua Zhuang, Radu Moldovan, Angela L. Rachubinski, Dexiang Gao, Hongyan Xu, Joaquin M. Espinosa, Kunhua Song
Summary: Using a human-induced pluripotent stem cell (iPSC) model and a mouse model of Down syndrome (DS), researchers have discovered that increased dosage of interferon receptors (IFNRs) genes on chromosome 21 leads to downregulation of the canonical Wnt signaling pathway, causing cardiogenic dysregulation in DS. They found that T21 upregulates IFN signaling, downregulates the canonical Wnt pathway, and impairs cardiac differentiation. Normalizing IFN signaling restored canonical Wnt signaling and rescued defects in cardiogenesis in DS. These findings provide important insights into the mechanisms underlying abnormal heart development in DS and could potentially lead to the development of therapeutic strategies.