Results 61 to 70 of about 4,687 (160)

Early brain‐penetrant immunotherapy reverses interferon signature and improves motor outcome in a case of ADAR1‐related Aicardi‐Goutières syndrome

Clinical &Translational Immunology, Volume 15, Issue 7, 2026.
Abstract Objectives Aicardi‐Goutières syndrome (AGS) is a genetic interferonopathy resulting from defects in nucleic acid metabolism and subsequent enhanced type I interferon signalling. We report how an expedited genomic diagnosis in conjunction with natural history data can enable a long‐term brain‐penetrant anti‐inflammatory regimen to optimise ...
Russell C Dale, Jessica Hayes, Velda X Han, Ruwani Dissanayake, Xianzhong Lau, Michelle Farrar, Brian Gloss, Markus Hofer, Esther Tantsis, Michelle Lorentzos, Safiyyah Abbas, Yanick J Crow, Shekeeb Mohammad, Shrujna Patel   +13 more
wiley   +1 more source

Neurodiversity and intersectionality in the workplace: A narrative review and research agenda

International Journal of Management Reviews, Volume 28, Issue 3, July 2026.
Abstract Neurodiversity has important implications for individuals and organizations as an increasingly salient but under‐researched dimension of diversity in the workplace. In this article, we provide an interdisciplinary review of neurodiversity research through the lens of intersectionality, with a particular focus on the potential ways ...
Thomas Calvard, Debora Gottardello, Ji‐Won Song   +2 more
wiley   +1 more source

Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report

BMC Medical Genomics, 2018
Background Silver-Russell Syndrome (SRS) is a rare growth-related genetic disorder mainly characterized by prenatal and postnatal growth failure. Although molecular causes are not clear in all cases, the most common mechanisms involved in SRS are loss of
Yerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, Nerea Gorria, Arrate Pereda, Blanca Gener, Laura Garcia-Naveda, Guiomar Perez de Nanclares   +7 more
doaj   +1 more source

Periodontitis and Periodontal Conditions in Systemically Healthy Children and Adolescents

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1100-1198, July 2026.
ABSTRACT Objective To answer the PICoS question ‘in systemically healthy children and adolescents (Population), what are the main features of periodontitis, necrotising periodontal diseases (NPD) and other periodontal conditions (periodontal abscesses, endo‐periodontal lesions, traumatic occlusal forces, prosthesis‐ and tooth‐related factors ...
Inbar Eshkol‐Yogev, Nagore Ambrosio, Cheryl Somani, Elena Figuero, Lior Shapira, Janet Davies   +5 more
wiley   +1 more source

The impact of cognitive behavioral therapy for insomnia on cognitive performance and amyloid beta in older adults: A randomized controlled trial

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract INTRODUCTION Insomnia is associated with increased risk for Alzheimer's disease (AD). It is unknown how cognitive behavioral therapy for insomnia (CBT‐I) impacts two hallmarks of AD progression, cognitive performance and beta‐amyloid (Aβ) burden.
Catherine F. Siengsukon, Lauren K. Hand, Eryen Nelson, Allison Glaser, Rebecca Ludwig, Julia A. Russell, Milind A. Phadnis, Junqiang Dai, Jared Bruce, Eric D. Vidoni, Michelle Drerup, Jill Morris, Jeffrey M. Burns   +12 more
wiley   +1 more source

[The Silver-Russel syndrome].

La Pediatria medica e chirurgica : Medical and surgical pediatrics, 1992
The authors report a case of Silver-Russel syndrome with severe deficit growth observed since intrauterine life. They describe the major features, that are constant and the minor features, that are variable and numerous. The features not always are present at birth. The A. exclude in this case a genetic cause and suggest a possible motherly cause.
M, Sarotti, C, Zilocchi, P, Bianchi, C, Faraci, C, Marenzi, D, Martinelli, R, Escobar   +6 more
openaire   +1 more source

Russell Silver syndrome: a perspective on growth and the influence of growth hormone therapy

Indian Journal of Endocrinology and Metabolism, 2012
A 6 years male child was referred to our Endocrinology clinic with complaints of failure to thrive and he displayed the characteristic features of Russell Silver Syndrome which included short stature, relative macrocephaly, triangular facies and ...
J V Mascarenhas, Vageesh S Ayyar
doaj   +1 more source

The Case of Dilated Cardiomiopathy, the Girl of Three Years from the Silver-Rassel Syndrom

Медицинский вестник Юга России, 2012
Dilated cardiomyopathy is a serious disabling disease with unclear etiology. In some cases, its occurrence is associated with genetic mutations. In this context the case of dilated cardiomyopathy of the three years old girl from the Silver-Russell ...
A. A. Lebedenko, A. M. Sarichev, E. A. Tarasova, T. A. Yanovskaya, E. V. Nosova, A. V. Kharlamova   +5 more
doaj  

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.

PLoS ONE, 2013
BackgroundRecent studies have revealed relative frequency and characteristic phenotype of two major causative factors for Silver-Russell syndrome (SRS), i.e. epimutation of the H19-differentially methylated region (DMR) and uniparental maternal disomy 7 (
Tomoko Fuke, Seiji Mizuno, Toshiro Nagai, Tomonobu Hasegawa, Reiko Horikawa, Yoko Miyoshi, Koji Muroya, Tatsuro Kondoh, Chikahiko Numakura, Seiji Sato, Kazuhiko Nakabayashi, Chiharu Tayama, Kenichiro Hata, Shinichiro Sano, Keiko Matsubara, Masayo Kagami, Kazuki Yamazawa, Tsutomu Ogata   +17 more
doaj   +1 more source

A rare case of Silver-Russell syndrome associated with growth hormone deficiency and urogenital abnormalities

Indian Journal of Endocrinology and Metabolism, 2012
Introduction: Silver-Russell syndrome (SRS) is a very rare genetic disorder. This is usually characterized by asymmetry in the size of the two halves or other parts of the body.
Namburi Rajendra Prasad, Ponnala Amaresh Reddy, T S Karthik, Mithun Chakravarthy, Faizal Ahmed   +4 more
doaj   +1 more source