Results 151 to 160 of about 141,580 (256)

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, Volume 109, Issue 5, Page 837-846, May 2026.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

Prevention strategies for hereditary gynaecological cancer in Lynch syndrome. [PDF]

Fam Cancer
Kwinten KJJ, Johnson JE, van Altena AM, Hoogerbrugge N, Davidson EJ, de Hullu JA.   +5 more
europepmc   +1 more source

Human papilloma virus infection and mismatch repair protein expression in sebaceous neoplasms of the genital area

Histopathology, Volume 88, Issue 6, Page 1221-1228, May 2026.
This study establishes the role of high‐risk HPV infection in cutaneous sebaceous carcinoma of the genital area. An intraepithelial component in a subset of cases poses a challenge to distinguish the entity from squamous cell carcinoma in situ. Rarely, sebaceous neoplasia of the genital area is associated with Muir–Torre syndrome. Aims This study aimed
Katharina Wiedemeyer, Zainab Al‐Shamma, Martin Köbel, Ingrid Ferreira, Paul W. Harms, Thomas Brenn   +5 more
wiley   +1 more source

Recurrent Pituitary Adenoma Causing Cushing's Disease in a Patient With Lynch Syndrome. [PDF]

Cureus
Bares V, Netuka D.
europepmc   +1 more source

Healthcare Utilisation in Ageing Adults With Intellectual Disability: Longitudinal Evidence From Five Waves of IDS‐TILDA

Journal of Applied Research in Intellectual Disabilities, Volume 39, Issue 3, May 2026.
ABSTRACT Background Adults with intellectual disability are living longer and ageing with more illness. This impacts healthcare utilisation. Yet little is known about how healthcare utilisation changes over time as this population ages. Methods Five waves of longitudinal data of people ≥ 40 years with intellectual disability from 2009 to 2023 were ...
Martin McMahon, Aviejay Paul, Catriona Ryan, Louise Lynch, Philip McCallion, Mary McCarron, Eilish Burke   +6 more
wiley   +1 more source

Hereditary gynecological cancer management in women with Lynch syndrome: a survey across Europe. [PDF]

Fam Cancer
Kwinten KJJ, de Hullu JA, ERN GENTURIS Survey Group, Hoogerbrugge N, van Altena AM.   +4 more
europepmc   +1 more source

No Evidence of Microsatellite Instability in Head and Neck Squamous Cell Carcinoma of Non‐Smokers and Non‐Drinkers

Journal of Oral Pathology &Medicine, Volume 55, Issue 5, Page 611-615, May 2026.
ABSTRACT Introduction While the prevalence of microsatellite instability (MSI) is low in the whole head and neck squamous cell carcinoma (HNSCC) population, it has been suggested to be more prominent in tumors of non‐smokers. Therefore, the goal of this study was to determine the presence of MSI in a cohort of well‐defined HNSCC of non‐smokers and non ...
F. J. Mulder, T. F. B. Gielgens, E. J. de Ruiter, R. de Bree, M. F. C. M. van den Hout, B. Kremer, S. M. Willems, E. J. M. Speel   +7 more
wiley   +1 more source

Patients' and family members' experiences with cascade testing for Lynch syndrome in the USA: a qualitative interview study. [PDF]

J Community Genet
Stewart NP, Courtney EK, Roberts MC, Turbitt E.   +3 more
europepmc   +1 more source

Key Insights From the International ICU Diary Conference 2025

Nursing in Critical Care, Volume 31, Issue 3, May 2026.
ABSTRACT We report on the 2025 International ICU Diary Conference that provided a comprehensive update on current knowledge, innovations and global practices related to ICU diaries. Held in a 6‐week online format, the event featured 23 speakers and was attended by mean 69.7 (SD 20.5) participants per session. Topics included development of ICU diaries,
Peter Nydahl, Bev Ewens, Anne‐Sophie Debue, Xavier Fiorilla, Kristin Gabriel, Alessandro Galazzi, Louise Gallie, Nikolas Groth, Carly Hickey, Mark Hudson, Fiona Lynch, Nicola Maxwell, Margo van Mol, Caroline Renner, Louise Rose, Kate Tantam, Lioudmila Karnatovskaia, Christina Jones   +17 more
wiley   +1 more source

The gut microbiome as a biomarker and modifiable risk factor in Lynch Syndrome. [PDF]

Fam Cancer
Colaco VS, Boleij A.
europepmc   +1 more source