Article
Biochemistry & Molecular Biology
Dieter Petit, Sara Gutierrez Fernandez, Katarzyna Marta Zoltowska, Thomas Enzlein, Natalie S. Ryan, Antoinette O'Connor, Maria Szaruga, Elizabeth Hill, Rik Vandenberghe, Nick C. Fox, Lucia Chavez-Gutierrez
Summary: This study provides a comprehensive analysis of Aβ profiles in familial Alzheimer's disease and reveals a linear correlation between mutation-driven alterations in Aβ profiles and early age at onset. The study also identifies the predictive value of the Aβ (37 + 38 + 40) / (42 + 43) ratio in assessing "unclear" PSEN1 variants.
MOLECULAR PSYCHIATRY
(2022)
Article
Urology & Nephrology
Vivek Biradar, Abhijit Konnur, Sishir Gang, Umapati Hegde, Mohan Rajapurkar, Hardik Patel, Sachida Nand Pandey, Shailesh Soni
Summary: A 22-year-old healthy man developed oedema and nephrotic syndrome 15 days after receiving the COVISHIELD COVID-19 vaccine, but achieved complete remission within 1 week after starting oral prednisolone therapy.
CLINICAL KIDNEY JOURNAL
(2022)
Article
Clinical Neurology
Mridul Johari, George Papadimas, Constantinos Papadopoulos, Sophia Xirou, Aikaterini Kanavaki, Margarita Chrysanthou-Piterou, Salla Rusanen, Marco Sayarese, Peter Hackman, Bjarne Udd
Summary: This study analyzed patients from four Greek families with an autosomal dominant muscle disease caused by the ANXA11:c.118G > T;p.D40Y mutation. The results provided genetic evidence supporting the expansion of the phenotypic spectrum of ANXA11.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2022)
Article
Clinical Neurology
Seondeuk Kim, Man Jin Kim, Hyoshin Son, Sungeun Hwang, Mi-Kyoung Kang, Kon Chu, Sang Kun Lee, Jangsup Moon
Summary: Progressive myoclonic epilepsy (PME) is a heterogeneous neurogenetic disorder characterized by progressive myoclonus, seizure, and ataxia. Our reported case of PME was caused by a novel DHDDS variant and the patient experienced rapid disease aggravation, despite adult onset of myoclonus and ataxia.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Review
Clinical Neurology
Daniele Mandia, Natalia Shor, Jean-Francois Benoist, Yann Nadjar
Summary: Vitamin-responsive neurogenetic diseases are rare conditions that are potentially underdiagnosed in adults and may show a dramatic response to treatment if detected early. This review outlines the key features of adult-onset forms and provides simple key messages to aid in the timely diagnosis and treatment of these conditions.
Article
Urology & Nephrology
Takuya Fujimaru, Kunio Kawanishi, Takayasu Mori, Eikan Mishima, Akinari Sekine, Motoko Chiga, Masayuki Mizui, Noriaki Sato, Motoko Yanagita, Yuki Ooki, Kiyotaka Nagahama, Yuko Ohnuki, Naoto Hamano, Saki Watanabe, Toshio Mochizuki, Katsushi Nagatsuji, Kenichi Tanaka, Tatsuo Tsukamoto, Hideo Tsushima, Mamiko Shimamoto, Takahiro Tsuji, Tamaki Kuyama, Shinya Kawamoto, Kenji Maki, Ai Katsuma, Mariko Oishi, Kouhei Yamamoto, Shintaro Mandai, Hiroaki Kikuchi, Fumiaki Ando, Yutaro Mori, Koichiro Susa, Soichiro Iimori, Shotaro Naito, Tatemitsu Rai, Junichi Hoshino, Yoshifumi Ubara, Mariko Miyazaki, Michio Nagata, Shinichi Uchida, Eisei Sohara
Summary: This study analyzed the genetic background and clinicopathologic features of adult NPH in 18 sporadic adult patients, finding that thick TBM duplication is a specific finding in adult NPH. Patients with pathogenic mutations were significantly younger, and older patients tended to have no pathogenic mutations even when suspected to have NPH by renal biopsy.
KIDNEY INTERNATIONAL REPORTS
(2021)
Article
Multidisciplinary Sciences
Akiko Tanoue, Kan Katayama, Yugo Ito, Kensuke Joh, Masaaki Toda, Taro Yasuma, Corina N. D'Alessandro-Gabazza, Hiroshi Kawachi, Kunimasa Yan, Masaaki Ito, Esteban C. Gabazza, Karl Tryggvason, Kaoru Dohi
Summary: The study demonstrates that specific deprivation of Crb2 in podocytes leads to altered actin cytoskeleton reorganization, dysfunction, and accelerated apoptosis of podocytes, ultimately causing focal segmental glomerulosclerosis. This finding sheds light on the potential mechanism underlying the development of kidney diseases related to Crb2 mutations.
SCIENTIFIC REPORTS
(2021)
Article
Cell Biology
William Lee, Zishan Wang, Miriam Saffern, Tomi Jun, Kuan-lin Huang
Summary: Young adult tumors exhibit unique genomic characteristics with more driver mutations and copy-number alterations compared to later-onset tumors, despite lower overall mutation burden. Analysis of tumor immune microenvironments reveals elevated TGF-b response and decreased IFN-g response in young adult tumors, compared to later-onset tumors.
Article
Multidisciplinary Sciences
Apostolos Liakopoulos, Linda B. S. Aulin, Matteo Buffoni, Efthymian Fragkiskou, J. G. Coen van Hasselt, Daniel E. Rozen
Summary: Collateral sensitivity (CS) is a phenomenon where resistance to one antibiotic increases sensitivity to other antibiotics, providing treatment opportunities to combat antibiotic resistance. This study investigates the generality of CS effects for different resistance mutations in Streptococcus pneumoniae, a gram-positive pathogen. By measuring the collateral and fitness effects of relevant resistance alleles, the researchers identify common CS effects, but also unique effects for each allele or allelic pair. Mathematical modeling demonstrates that both collateral and fitness effects impact the population dynamics of resistance evolution. The findings highlight the importance of considering allelic identity and interactions in CS-based therapies.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Multidisciplinary Sciences
Sarah Opie-Martin, Alfredo Iacoangeli, Simon D. Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P. Spargo, Ahmad Al-Khleifat, Kelly L. Williams, Jennifer Jockel-Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna-Yasek, Lu Tang, Pamela J. Shaw, Adriano Chio, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesus S. Mora, Wim Robberecht, Philip Van Damme, Russell McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stevic, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dong-sheng Fan, Florence Esselin, Elisa de la Cruz, William Camu, Nazli A. Basak, Teepu Siddique, Timothy Miller, Robert H. Brown, Ammar Al-Chalabi, Christopher E. Shaw
Summary: Superoxide dismutase (SOD1) gene variants can cause amyotrophic lateral sclerosis (ALS) and are associated with distinctive phenotypes and survival trajectories.
NATURE COMMUNICATIONS
(2022)
Article
Cell Biology
Sher Bahadur Poudel, Manisha Dixit, Gozde Yildirim, Jose Cordoba-Chacon, Manuel D. Gahete, Ikeno Yuji, Thorsten Kirsch, Rhonda D. Kineman, Shoshana Yakar
Summary: The study found that adult-onset isolated GH deficiency can lead to increased severity of OA and extended lifespan in female mice. However, high levels of lymphomas were observed in both sexes with AOiGHD. Additionally, males with AOiGHD showed increased cell senescence and significantly decreased health span.
Article
Psychology, Clinical
Mauricio Lopez-Mendez, Angelica Ospina-Escobar, Rowan Iskandar, Fernando Alarid-Escudero
Summary: The lifetime prevalence of cannabis use has increased among Mexico's population over the past two decades, with a faster rate of increase in females. Males still have higher rates of onset of cannabis use than females, and individuals born in the 1990s have the highest rates of onset among recent birth cohorts.
ADDICTIVE BEHAVIORS
(2021)
Article
Psychiatry
Lucy Riglin, Rachel Blakey, Kate Langley, Ajay K. Thapar, Sharifah Shameem Agha, George Davey Smith, Evie Stergiakouli, Anita Thapar
Summary: The study found that asking adults to recall specific symptoms may be more accurate than asking about the age at which symptoms started, while limitations to retrospective recall contribute to the debate on the validity of ADHD age-at-onset assessment.
BRITISH JOURNAL OF PSYCHIATRY
(2022)
Article
Biochemistry & Molecular Biology
Shulin Mao, Jiayu Su, Longteng Wang, Xiaochen Bo, Cheng Li, Hebing Chen
Summary: Accurately measuring biological age is crucial for improving healthcare for the elderly population. Researchers have developed a statistical pipeline called SCALE, which uses literature and single-cell transcriptomic data to quantify biological aging in different tissues. They found that SCALE correlates well with other age indicators and can distinguish subtle differences in aging even in cells of the same chronological age.
Article
Oncology
Myvizhi Esai Selvan, Kenan Onel, Sacha Gnjatic, Robert J. Klein, Zeynep H. Gumus
Summary: Recent studies have shown that rare, deleterious variants (RDVs) in specific genes play a critical role in heritable cancer risk. By analyzing whole-exome sequencing data of 20,789 participants, we identified associations between cancer risk and RDVs in DNA repair, cancer predisposition, and somatic cancer drivers. Moreover, we found that personal RDV load in these gene-sets is associated with increased risk, earlier onset, increased M1 macrophages in tumor, and increased tumor mutational burden in specific cancers. These findings can be used to identify high-risk individuals and improve prognosis through increased surveillance, earlier screening, and targeted treatments.
NPJ PRECISION ONCOLOGY
(2023)