Results 191 to 200 of about 35,482 (247)

Full‐Spectrum Medicinal Cannabis Plant Extract 0.08% THC (NTI164) Improves Symptoms of Rett Syndrome: An Open‐Label Study

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim The aim of this Phase I/II open‐label study was to assess the safety and efficacy of NTI164, a novel full‐spectrum medicinal cannabis plant extract 0.08% Δ‐9‐tetrahydrocannabinol (THC), in Rett syndrome (RTT). Methods Eleven female participants (5–16 years) with a pathogenic variant in the MECP2 gene were recruited to this study, receiving
B. A. Keating, Y. Ogru, T. G. Duthy, L. Douglas, K. Lichkus, E. Isikgel, M. C. Fahey, C. Ellaway   +7 more
wiley   +1 more source

Perspectives on Preimplantation Genetic Testing for Monogenic Disorders Among Japanese Patients With Hereditary Breast Cancer Undergoing Fertility Preservation: Insights From the First Japanese Survey. [PDF]

Reprod Med Biol
Konishi H, Nakaoka Y, Michiko A, Fujiwara S, Kitayama R, Kadogami D, Morimoto N, Katsu K, Fujioka S, Inoue T, Fukuda A, Kurahashi H, Morimoto Y.   +12 more
europepmc   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know. [PDF]

Curr Osteoporos Rep
Busse E, Lee B, Nagamani SCS.
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

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

A heatmap for expected cumulative live birth rate in preimplantation genetic testing for monogenic disorders and chromosomal structural rearrangements. [PDF]

J Assist Reprod Genet
Van Der Kelen A, Keymolen K, Cools W, De Vos A, Pölsler L, De Vos M, Blockeel C, Fernandez-Gallardo E, De Rycke M, Berckmoes V, Verdyck P, Hes FJ, Verpoest W.   +12 more
europepmc   +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

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source