Results 191 to 200 of about 47,631 (258)

Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risks. [PDF]

EBioMedicine
Sharp LN, Colclough K, Murray Leech J, Evans AV, Hattersley AT, Weedon MN, Brown RJ, Patel KA.   +7 more
europepmc   +1 more source

Co‐Design of Strategies to Support the Implementation of a Paediatric Risk‐Reduction Pathway for Familial Hypercholesterolaemia

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Objectives Familial hypercholesterolaemia (FH) affects 1 in 311 people. Left untreated, it elevates LDL‐cholesterol from early life and drives premature atherosclerotic cardiovascular disease. Despite paediatric guidelines for early lipid‐lowering, detection and management in Australia remain suboptimal.
Mitchell Sarkies, Shubha Srinivasan, Ari Horton, Jacquie Garton‐Smith, Gerald F. Watts, Christine Tawtel, Jenny Della‐Vedova, Kristen J. Nowak, Jing Pang, Andrew Martin   +9 more
wiley   +1 more source

Hyperglycemia Due to HNF1A-Mutation-Associated Maturity-Onset Diabetes of the Young (MODY) in a 6-Year-Old Kazakh Girl. [PDF]

Am J Case Rep
Toleuzhanova AB, Zholdybayeva E, Eslamgalieva S, Svyatova G, Akhmetollayeva A.   +4 more
europepmc   +1 more source

Genetic Susceptibility to Periodontitis

Journal of Periodontal Research, EarlyView.
Aim: The aim of this narrative review was to identify genes carrying risk alleles associated with an increased risk of periodontitis and to place them in a biological context. Methods: The literature was reviewed based on predefined criteria. Results: The identified genes largely fall into functions linking immune response with tissue repair. The genes
Gesa M. Richter, Arne S. Schaefer
wiley   +1 more source

Periodontal Disease and Salivary Gland Dysfunction in Neurofibromatosis Type 1: A Case–Control Study

Oral Diseases, EarlyView.
ABSTRACT Objectives Neurofibromatosis type 1 (NF1) presents with diverse systemic and oral manifestations. The aim of this study was to investigate the periodontal status and salivary alterations in NF1 individuals. Methods A total of 38 individuals with NF1 diagnostic criteria were compared with a control group paired by age and sex.
Eloá Borges Luna, Gustavo de Souza Vieira, Flávia Lima Kleinsorgen Motta, Ana Beatriz Oliveira Gambôa, Analúcia Rampazzo Xavier, Rafaela Elvira Rozza‐de‐Menezes, Karin Soares Cunha   +6 more
wiley   +1 more source

Dermatologic Findings of RELA‐Associated Autoinflammatory Disease

Pediatric Dermatology, EarlyView.
ABSTRACT Variants in the gene RELA have been implicated in a monogenic, hereditary form of Behcet's‐like syndrome. This case series describes the dermatologic manifestations of three patients with identified RELA‐associated autoinflammatory disease.
Elizabeth Nourse, Vidya Sivaraman, Catherine G. Chung, Shoghik Akoghlanian, Esteban Fernandez Faith   +4 more
wiley   +1 more source

Toward a monogenic architecture of human infections: From 1996 to 2026. [PDF]

J Hum Immun
Casanova JL.
europepmc   +1 more source

The role of acquired host immunity in periodontal diseases

Periodontology 2000, EarlyView.
Abstract The aim of this narrative review is to relate the contribution of European researchers to the complex topic of the host immune system in periodontal disease, focusing on acquired immunity. Other chapters in this volume will address the genetics and autoantibody responses and other forms of immunity to periodontal disease.
Denis F. Kinane, David F. Lappin, Shauna Culshaw   +2 more
wiley   +1 more source

A worldwide perspective on clinical characteristics and treatment of youth with monogenic diabetes in the SWEET registry. [PDF]

J Endocr Soc
Deng L, Lanzinger S, Casteels K, Cavallo F, De Sanctis L, Fitas AL, Huang C, Kim J, Patouni K, Pruhova S, Taplin CE, Tauschmann M, Krishnamurthy M.   +12 more
europepmc   +1 more source