Results 211 to 220 of about 106,621 (305)

Novel Approaches for Investigating Host Responses to HIV Infection in Ex Vivo Human Genital Tissues. [PDF]

Am J Reprod Immunol
Boger MF, Kaldhusdal V, Broliden K.
europepmc   +1 more source

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

British Journal of Haematology, EarlyView.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal, Roman Klifa, Lise Larcher, Marie Passet, Tristan Celse, Laetitia Gouas, Maud Tusseau, AURAGEN Consortium, Alexis Praga, Virginie Bernard, Mathieu Fusaro   +10 more
wiley   +1 more source

Cancer Prevalence Among Large Cohort of Individuals With Down Syndrome: Implications for Screening Guidelines. [PDF]

Cancer Med
Fitzpatrick V, Noah A, Rivelli A, Johnson R, Zak M, Espinosa J, Chicoine B.   +6 more
europepmc   +1 more source

International Delphi consensus on feminising genital surgery in assigned‐male‐at‐birth individuals

BJU International, EarlyView.
Objective To achieve an international expert consensus among surgeons on the indications, contraindications, and perioperative management of feminising genital surgery (FGS) for assigned‐male‐at‐birth (AMAB) individuals, using a Delphi process. Methods A two‐round on‐line Delphi survey (May–July 2025) followed by a final consensus meeting (September ...
Marta Pezzoli, Mattia Lo Re, Valeria Pizziconi, Marco Falcone, Mirko Preto, Marco Capece, Michele Rizzo, Guglielmo Mantica, Francesco Chierigo, Malte Vetterlein, Patrizio Vicini, François‐Xavier Madec, Paul Neuville, Wai Gin (Don) Lee, Francesca Vedovo, Saskia Morgenstern, Marjan Waterloos, Miroslav Djordjevic, Wesley Verla, Lukasz Bialek, Juan Diego Tinajero, Jordán Scherñuk, Tim Ludwig, Silke Riechardt, Lisa Szyper, Maren Wenk, Jochen Heß, Julia Bohr, Andrea Minervini, Andrea Cocci, on behalf of the Italian Society of Urodynamics (SIUD)   +30 more
wiley   +1 more source

Scrotal Abscess Revealing Epididymal Tuberculosis: A Case Report and Literature Review. [PDF]

Cureus
Lamghari A, Jendouzi O, Ait Essi S, El Agouri H.   +3 more
europepmc   +1 more source

Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome

Clinical Endocrinology, EarlyView.
ABSTRACT Context Klinefelter syndrome (KS), defined by a 47, XXY karyotype, is commonly associated with progressive testicular failure. The precise timing of Sertoli and Leydig cell dysfunction during puberty remains unclear. Objective To determine the onset and progression of testicular insufficiency during puberty in KS, and to assess whether ...
Tredez Axelle, Christine Lefevre, Simon Boussion, Cindy Colson, Iva Gueorguieva, Francois Marcelli, Anne Laure Barbotin, Pascal Pigny, Hamza Benderradji, Clara Leroy   +9 more
wiley   +1 more source

Secondary Syphilis With Concomitant Bullous Pemphigoid: A Case Report. [PDF]

Case Rep Dermatol Med
Rijal S, Sitaula D, Gyawalee M, Paudel V, Kafle M, Khadka A, Magar ST, Paudel B, Jha A, Amatya A, Kayastha B.   +10 more
europepmc   +1 more source

Service Evaluation: Increasing Transparency in Decision‐Making and Acknowledging Professional's Feelings When Working With Gender Dysphoria in Children's Mental Health Services

Child &Family Social Work, EarlyView.
ABSTRACT There is a lack of evidence‐based guidelines for supporting young people with gender dysphoria and intellectual disability in the United Kingdom. The NHS is moving towards more care being provided by non‐specialist gender services and it is unclear what this may feel like for professionals in these services.
Laura Prodger, Alex Zouloumis, Melanie Hodgkinson, Laura Bartlett   +3 more
wiley   +1 more source

A Rare Soft Tissue Presentation of Mixed Histiocytosis with Multiple Disseminated Subcutaneous Masses. [PDF]

Acta Derm Venereol
Miyagawa F, Ogawa K, Takeda M, Yoshizawa A, Asada H.   +4 more
europepmc   +1 more source