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Total 794 results found since Jan 2013.

Confronting the challenge of gender nonconforming donors: A blood center's three-year experience
CONCLUSION: Increased gender options on the DHQ allowing gender diverse self-identification enhances inclusivity. Transgender and nonbinary individuals accounted for a minority of donors, most of whom are younger, and have a comparable return rate to M/F donors. Shifts in donor policies can ensure inclusivity of this diverse population and provide an opportunity to expand the base of eligible donors.PMID:37265374 | DOI:10.1111/trf.17446
Source: Transfusion - June 2, 2023 Category: Hematology Authors: Vanessa Reynolds Nancy L Van Buren Jed B Gorlin Source Type: research

Comment on: “The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome” by Nielsen-Dandoroff et al.
European Journal of Human Genetics, Published online: 30 May 2023; doi:10.1038/s41431-023-01397-7Comment on: “The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome” by Nielsen-Dandoroff et al.
Source: European Journal of Human Genetics - May 30, 2023 Category: Genetics & Stem Cells Authors: Annalisa Vetro Source Type: research

Artificial Intelligence for Clinical Flow Cytometry
In this review, the authors discuss the fundamental principles of machine learning. They explore recent studies and approaches in implementing machine learning into flow cytometry workflows. These applications are promising but not without their shortcomings. Explainability may be the biggest barrier to adoption, as they contain “black boxes” in which a complex network of mathematical processes learns features of data that are not translatable into real language. The authors discuss the current limitations of machine learning models and the possibility that, without a multiinstitutional development process, these appli...
Source: Clinics in Laboratory Medicine - May 29, 2023 Category: Laboratory Medicine Authors: Robert P. Seifert, David A. Gorlin, Andrew A. Borkowski Source Type: research

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues
AbstractThe minichromosome maintenance (MCM) complex acts as a DNA helicase during DNA replication, and thereby regulates cell cycle progression and proliferation. In addition, MCM-complex components localize to centrosomes and play an independent role in ciliogenesis. Pathogenic variants in genes coding for MCM components and other DNA replication factors have been linked to growth and developmental disorders as Meier –Gorlin syndrome and Seckel syndrome. Trio exome/genome sequencing identified the same de novo MCM6 missense variant p.(Cys158Tyr) in two unrelated individuals that presented with overlapping phenotypes co...
Source: Human Genetics - May 17, 2023 Category: Genetics & Stem Cells Source Type: research

Sonidegib as a locally advanced basal cell carcinoma therapy in real-life clinical setting: a national multicentre study
CONCLUSION: Sonidegib shows good effectiveness and acceptable safety profile in usual clinical practice.PMID:37088285 | DOI:10.1016/j.ad.2023.04.022
Source: Actas Dermo-Sifiliograficas - April 23, 2023 Category: Dermatology Authors: O M Moreno-Arrones S B éa-Ardebol F Mayo-Martinez G P érez-Pastor I Torres-Navarro M Bonfill-Ort í L G Deza-Vargas V Ruiz-Salas E Masferrer C Feal L Turri ón-Merino A Toll M Y ébenes S Galiano-Mej ías A Jaka C Ferrandiz-Pulido A Florez N Hern ández Source Type: research

1322 A non-cell autonomous dermal hedgehog signaling mechanism for follicular neoplasia and induction
Gorlin syndrome (also known as basal cell nevus syndrome) is a hereditary condition characterized by development of numerous epidermal and follicular tumors. Mutations in theSHH signaling pathway are key drivers of this disease. It is currently unknown whether SHH mutations in non-epidermal cell types play a role in Gorlin syndrome phenotypes, the tumor microenvironment, or altered skin development. Through lineage tracing using a tamoxifen inducible Cre-recombinase under the control of the Twist2 promoter (Twist2-CreERT2;R26-tdTO), we identify Twist2-expressing cells of mouse skin are located in the dermis and dermal sheath.
Source: Journal of Investigative Dermatology - April 17, 2023 Category: Dermatology Authors: S. Li, A. Shah, E. Sanchez-Ortiz, N. Liu, E. Olson Source Type: research

The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome
European Journal of Human Genetics, Published online: 14 April 2023; doi:10.1038/s41431-023-01359-zThe expanding genetic and clinical landscape associated with Meier-Gorlin syndrome
Source: European Journal of Human Genetics - April 14, 2023 Category: Genetics & Stem Cells Authors: Emily Nielsen-Dandoroff Mischa S. G. Ruegg Louise S. Bicknell Source Type: research

Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161
AbstractRecent genetic sequencing studies in large series ’ of predominantly childhood medulloblastoma have implicated loss-of-function, predominantly truncating, variants in theELP1 andGPR161 genes in causation of the MBSHH subtype specifically. The latter association, along with a report of an index case with some features of Gorlin syndrome has led to speculation thatGPR161 may also cause Gorlin syndrome. We show that these genes are associated with relatively low absolute risks of medulloblastoma from extrapolating lifetime risks in the general population and odds ratios from the population database gnomAD. The proje...
Source: Familial Cancer - March 24, 2023 Category: Cancer & Oncology Source Type: research

39. Ovarian Fibromas in Adolescents with Gorlin Syndrome: A Case Series
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder characterized by a predisposition to various benign and malignant tumors, including ovarian fibromas. The purpose of this study is to report the presentation and management of patients with Gorlin Syndrome and ovarian fibromas at a single institution.
Source: Journal of Pediatric and Adolescent Gynecology - March 11, 2023 Category: OBGYN Authors: Danielle Cipres, Jessica Y. Shim Source Type: research

Bilateral ovarian fibromas in premenarchal girl with Gorlin-Goltz syndrome
Ovarian fibromas in children are atypical, in approximately 10% of the cases they are reported as bilateral. In premenarchal females can be a manifestation of Gorlin-Goltz syndrome, rare autosomal dominant disorder (1/60.000) with multisystemic developmental abnormalities, caused by mutations of the PTCH1 gene.A notable case of an eight-year-old female with Gorlin-Goltz syndrome and bilateral ovarian fibromas is presented. At the age of 11 months, she was diagnosed with desmoplastic medulloblastoma.
Source: Journal of Pediatric and Adolescent Gynecology - March 11, 2023 Category: OBGYN Authors: Marina Jakimovska Stefanovska, Jure Gruntar, Lidija Kitanoski Source Type: research

Bonus Features – February 26, 2023 – Accenture says more adequate Medicaid networks could save $912 million annually, InterSystems named data partner of NCQA, and more
This article will be a weekly roundup of interesting stories, product announcements, new hires, partnerships, research studies, awards, sales, and more. Because there’s so much happening out there in healthcare IT we aren’t able to cover in our full articles, we still want to make sure you’re informed of all the latest news, announcements, and stories happening to help you better do your job. News A new report from Accenture, US health inequity: beyond the statistics, indicated that inequity in care contributes to an additional 3,400 Black infant deaths and an additional 9,200 Black cancer deaths annually. Proposed f...
Source: EMR and HIPAA - February 26, 2023 Category: Information Technology Authors: Brian Eastwood Tags: Healthcare IT Accenture Accenture Healthcare AHIOS Augusta University Health System Bart Howe Bicycle Health Biofourmis Boomi BrightInsight D14.AI Dhealth directtrust Ellipsis Health FEI Systems FutureRx Google Cloud Grac Source Type: blogs

Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly
In this study, we expand the phenotype of MCPH3 as we describe a 10-year-old girl with a biallelic exonic frameshift variant in CDK5RAP2 displaying previously unreported features usually associated with Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II (MOPDII). We further describe the clinical phenotype of this form of centrosomal-based primary microcephaly and emphasize the importance of skeletal defect screening in affected individuals.PMID:36842471 | DOI:10.1016/j.ejmg.2023.104733
Source: European Journal of Medical Genetics - February 26, 2023 Category: Genetics & Stem Cells Authors: Quentin Sabbagh Myl ène Tharreau Camille Cenni Elodie Sanchez Nathalie Ruiz-Pallares Fanny Alkar Cyril Amouroux St éphanie David Nicolas Leboucq Isabelle Meunier Didier Bessis Alexandre Theron Mouna Barat-Houari Marjolaine Willems Source Type: research