Results 91 to 100 of about 43,163 (231)

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

BJS (British Journal of Surgery), EarlyView., 2020
Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.
T. T. Seppälä, A. Latchford, I. Negoi, A. Sampaio Soares, R. Jimenez‐Rodriguez, L. Sánchez‐Guillén, D. G. Evans, N. Ryan, E. J. Crosbie, M. Dominguez‐Valentin, J. Burn, M. Kloor, M. von Knebel Doeberitz, F. J. B. van Duijnhoven, P. Quirke, J. R. Sampson, P. Møller, G. Möslein, on behalf of the European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)   +18 more
wiley   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Sustaining momentum in gender equity: Lessons from the women in European Society of Sports Traumatology, Knee Surgery and Arthroscopy initiative. [PDF]

Knee Surg Sports Traumatol Arthrosc
Pichler L, Girolamo L, Arendt E, Bøe B, Andersen MR, van Dijk P, Ekås GR, Kon E, Saccomanno MF, Tecklenburg K.   +9 more
europepmc   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Gender-Affirming Mastectomy in a Private Plastic Surgery Clinic in Poland: Sociodemographic Insights from a Cohort of 100 Transgender Individuals: A Retrospective Study. [PDF]

Medicina (Kaunas)
Libondi K, Libondi G, Wysocki WM.
europepmc   +1 more source

Anatomic Diagram as a Novel Assessment Strategy for Subclinical Local Residual Disease in Sinonasal Squamous Cell Carcinoma and Intestinal‐type Adenocarcinoma

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective In the last two decades, transnasal endoscopic surgery (TES) has become pivotal in the management of sinonasal tumors. This approach involves a multiblock tumor resection, adding complexity to the interpretation of surgical margins after pathological examination.
Piergiorgio Gaudioso, Leonardo Calvanese, Stefano Taboni, Giacomo Contro, Diego Cazzador, Tommaso Saccardo, Gloria Schiavo, Vittorio Rampinelli, Alberto Schreiber, Gabriele Testa, Cesare Piazza, Enzo Emanuelli, Davide Mattavelli, Piero Nicolai, Marco Ferrari   +14 more
wiley   +1 more source

Tethered Cord Syndrome in Pediatric and Adult Populations: A Retrospective Analysis of Outcomes and Associated Spinal Dysraphisms. [PDF]

Cureus
Khizar A, Khan FI, Mehmood Qadri H, Zahid H, Abid A, Adnan OB, Tanweer M, Khan H, Fawad Ul Hassan M, Irshad S, Bashir A.   +10 more
europepmc   +1 more source

Local Specific IgE Levels Can Predict and Monitor the Therapeutic Response to Subcutaneous Immunotherapy With House Dust Mite

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Identifying predictive and monitoring biomarkers for allergen immunotherapy response is crucial for enhancing clinical efficacy. This study aims to investigate the systemic and local levels of immunoglobulins and identify potential biomarkers in house dust mite (HDM) allergic rhinitis (AR) patients who are undergoing subcutaneous ...
Xu Xu, Jingyun Li, Xu Zhang, Yu Song, Lin Xi, Luo Zhang, Yuan Zhang   +6 more
wiley   +1 more source

Surgical Pleth Index as a Potentially Useful and Noninvasive Tool for Assessing Tracheal Intubation Conditions in Female Patients During Neuromuscular Blockade-Free Anesthesia. [PDF]

Emerg Med Int
Chen J, Pan Z, Zheng J.
europepmc   +1 more source