Results 131 to 140 of about 4,048 (215)

Early Prediction of Outcome Using Lactate Dehydrogenase and Amplitude‐Integrated EEG in Transported Newborn Infants with Hypoxic–Ischaemic Encephalopathy

Acta Paediatrica, EarlyView.
ABSTRACT Aim To investigate whether early lactate dehydrogenase (LDH) and amplitude‐integrated electroencephalography (aEEG) improve the prediction of outcome in outborn infants transported for therapeutic hypothermia. Method Secondary analysis of a randomised controlled trial (2016–2019) including 113 asphyxiated newborn infants randomised to ...
Hang T. T. Tran, Ha T. Le, Dien M. Tran, Tobias Alfvén, Linus Olson, Lena Hellstrom‐Westas   +5 more
wiley   +1 more source

Prevalence and Burden of Fatigue Across Disorders of Gut–Brain Interaction: Results From the Rome Foundation Global Epidemiology Study

Alimentary Pharmacology &Therapeutics, EarlyView.
Fatigue is common and burdensome in disorders of gut‐brain interaction and increases with diagnostic overlap. In this global population‐based study, fatigue was associated with female sex, age, BMI, sleep disturbance, higher anxiety and depression scores, greater somatic symptom burden, lower psychological well‐being, antidepressant use, and greater ...
Fleur Veldman, Francesco Innocenti, Imran Aziz, Asma Fikree, Shrikant I. Bangdiwala, Olafur Palsson, Ami D. Sperber, Daniel Keszthelyi   +7 more
wiley   +1 more source

Optical genome mapping improves detection and characterisation of cytogenetic abnormalities in non‐Hodgkin lymphomas

British Journal of Haematology, EarlyView.
Optical genome mapping (OGM) is feasible on fresh and frozen tissue lymphoma samples and demonstrated its added value for accurate diagnostic classification. OGM surpasses karyotype and FISH in refining diagnoses of lymphoma, identifying class‐defining rearrangements along with prognostic markers.
Coura Fall, Agnès Daudignon, Séverine Valmary‐Degano, Julie Mondet, Lucile Bussot, Lysiane Molina, Simon Chevalier, Edouard Bonneville, Pierre Aubert, Sylvie Tondeur, Clémentine Legrand, Jean‐Baptiste Gaillard, Hélène Guermouche, Anouk Emadali, Sylvain Carras, Christine Lefebvre   +15 more
wiley   +1 more source

Molecular and clinical features of a Japanese medulloblastoma cohort: Subgroup‐specific prognostic stratification using economical/accessible diagnostic methods

Brain Pathology, EarlyView.
This study characterizes the molecular subgroup–specific features of a nationwide Japanese cohort comprising 242 medulloblastomas (MBs). Furthermore, we introduce SEE‐6‐CNA, a simple, cost‐effective, and FFPE‐compatible molecular test that is applicable to routine pathology samples and serves as a surrogate for risk stratification in non‐WNT/non‐SHH ...
Kohichi Go, Asako Katsuma, Ema Yoshioka, Tomoko Shofuda, Kohei Fukuoka, Koichi Ichimura, Yuko Matsushita, Yohei Mineharu, Yasuhide Makino, Takeshi Kawauchi, Atsushi Sasaki, Junko Hirato, Takeshi Inoue, Yoshinori Kodama, Masayuki Mano, Daisuke Kanematsu, Noriyuki Kijima, Naoki Kagawa, Dai Keino, Akitake Mukasa, Tomonari Suzuki, Koji Yoshimoto, Daisuke Kuga, Keishi Horiguchi, Shigeru Yamaguchi, Masayuki Kanamori, Kai Yamasaki, Kenichi Ishibashi, Takuya Akai, Masayoshi Yamaoka, Ryuji Ishizaki, Atsufumi Kawamura, Shigeo Ohba, Joji Ishida, Ryo Ando, Junya Fukai, Tomoru Miwa, Masazumi Fujii, Ai Muroi, Kuniaki Saito, Atsuko Harada, Yasuhiko Hayashi, Masahiro Nonaka, Young‐Soo Park, Yusuke Kobayashi, Tadashi Higuchi, Yosuke Miyairi, Kazuhisa Yoshifuji, Noriyoshi Takebe, Soichi Oya, Kosuke Nakajo, Mitsutoshi Nakada, Yoshiteru Nakano, Mizuki Kambara, Koji Adachi, Kazuhiro Tanaka, Hideo Nakamura, Yukihiko Sonoda, Ryuta Saito, Takafumi Wataya, Kazuhiko Kurozumi, Michael D. Taylor, Yoshitaka Narita, Soichiro Shibui, Hajime Arai, Hiroaki Sakamoto, Isao Date, Motoo Nagane, Ryo Nishikawa, Yoshiki Arakawa, Yonehiro Kanemura   +70 more
wiley   +1 more source

Development and analytical validation of a targeted short‐read next generation sequencing‐based pharmacogenetic panel for comprehensive variant detection

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Genomic profiling of patients for genetic variants that modify the effect of specific medications has many benefits, including the possibility of avoiding toxicities and ensuring an adequate effect of the medication. Our intention was to develop a comprehensive, high‐quality pharmacogenetic test panel for clinical use ...
Anna Gréen, Nils Johan Fredriksson, Michael Andresen, Jon Jonasson, Malin Lindqvist Appell, Henrik Gréen   +5 more
wiley   +1 more source

Spatial Transcriptomics and Bulk RNA‐Seq Analysis Revealed Molecular Classification of Invasive Lobular Carcinoma

Cancer Science, EarlyView.
Spatial transcriptomics and bulk RNA‐seq data analysis revealed the molecular characteristics of invasive lobular carcinoma (ILC). ILC was classified into three clusters: proliferative, immunoreactive, and stromal‐rich, with different prognoses. ABSTRACT Invasive lobular carcinoma (ILC) is a special type of breast cancer.
Momoko Tokura, Jun Nakayama, Hironori Suzuki, Mieko Ochi, Miyaka Umemori, Sho Shiino, Masayuki Yoshida, Shin Takayama, Yasushi Yatabe, Yusuke Yamamoto   +9 more
wiley   +1 more source

Mutational Signature‐Based Biomarker for Phase II Trial of Olaparib Maintenance in Advanced High‐Grade Ovarian Cancer

Cancer Science, EarlyView.
A whole‐exome sequencing–based mutational signature biomarker (MSBM) identified an HRD‐enriched population in advanced ovarian cancer. In a phase II trial, olaparib maintenance suggested clinically meaningful PFS benefit without bevacizumab, supporting MSBM as a complementary HRD assessment approach.
Katsutoshi Oda, Daisuke Shintani, Akira Nishijima, Mayuyo Mori, Kazuyoshi Kato, Shoji Nagao, Noriomi Matsumura, Masahiro Kagabu, Masataka Takenaka, Kosuke Yoshihara, Yosuke Konno, Junzo Hamanishi, Sho Sato, Shiro Takamatsu, Keiko Ueda, Kosuke Kashiwabara, Takashi Aoki, Kunihiro Nishimura, Kenji Tatsuno, Hiroyuki Aburatani, Kosei Hasegawa   +20 more
wiley   +1 more source

Transient Hyperparathyroidism and Severe Intrauterine Osteopenia Linked to Novel Homozygous TRPV6 Deletion

Clinical Endocrinology, EarlyView.
ABSTRACT Context Placental calcium (Ca2+) transport is essential for foetal bone mineralisation and development, as well as for Ca2+ homoeostasis. Rare mutations in transient receptor potential vanilloid (TRPV) 6 of the infant cause insufficient maternal‐foetal Ca2+ transport through the placenta.
Teodora Grigore, Quinty Leusink, Femke Latta, Bram van der Eerden, Paul de Laat, Danielle van der Kaay, Joost Hoenderop   +6 more
wiley   +1 more source

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population‐Specific Variants and Clinical Correlations

Clinical Genetics, EarlyView.
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana, Danillo Alencar‐Coutinho, Rafaella Abreu‐Oberhuber, Maria Eduarda Paramo‐Neto, Jeanne Oiticica, Ricardo Ferreira Bento, Ana Carla Batissoco, Karina Lezirovitz   +7 more
wiley   +1 more source

Unveiling the molecular profile of adenosquamous gallbladder carcinoma: characterization of a Caucasian cohort

Histopathology, EarlyView.
GBASCs are MMRp tumours, exhibiting minimal HER2 overexpression and elevated PD‐L1 expression compared to adenocarcinomas. Especially in metastatic and TP53‐wild type tumours, GBASCs can express CLDN18, albeit limited to the glandular component. Their genomic profile resembles that of adenocarcinomas with an enrichment in alterations on PIK3CA, PTEN ...
Jessica Gasparello, Valentina Angerilli, Mario Domenico Rizzato, Edoardo Maffii, Carlotta Ceccon, Matilde Callegarin, Marianna Sabbadin, Monia Niero, Luisa Toffolatti, Francesca Bergamo, Paola Parente, Luca Mastracci, Federica Grillo, Alessandro Vanoli, Paola Mattiolo, Claudio Luchini, Angelo Paolo Dei Tos, Umberto Cillo, Giacomo Zanus, Sara Lonardi, Matteo Fassan   +20 more
wiley   +1 more source