Diagnosis of gorlin-goltz syndrome: clincial case report
The diagnosis of Gorlin-Goltz syndrome involves clinical, radiographic, and histopathological aspects. Computed tomography contributes to the evaluation of the characteristics, to the extension of cystic lesions, and to the diagnosis of signs, such as calcifications in the falx cerebri. A 22-year-old male presented a complaint of halitosis. Upon extraoral examination, a slight increase in volume in the lower third of the right face, suggestive of a cystic lesion in the soft tissue, and a scar on the skin of the nasolabial region, were noted. (Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics)
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - June 15, 2023 Category: ENT & OMF Authors: Thiago Henrique Gon çalves MOREIRA, Regina Garcia DORTA, Mariana Quirino Silveira SOARES, Renata Hinhug Vilarinho CURADO, Daniela Carvalho TOSIN, José Luiz Cintra JUNQUEIRA, Vera Cavalcanti de ARAÚJO Source Type: research
Synchronous odontogenic myxoma and odontogenic keratocysts in nevoid basal cell carcinoma syndrome: a case report
Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. An 11-year-old girl was referred for evaluation due to a lack of eruption of teeth 14 and 15. Her past medical history and physical examination were unremarkable. Imaging exams showed well-defined pericoronal radiolucencies associated with teeth 14 and 37, as well as an additional radiolucent lesion affecting the right mandibular body. (Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics)
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - June 15, 2023 Category: ENT & OMF Authors: Roberto de Oliveira JABUR, Marcelo Carlos BORTOLUZZI, Ana Luiza Oliveira Corr êa ROZA, Amanda Almeida LEITE, Márcio Ajudarte LOPES, Pablo Agustin VARGAS Source Type: research
Calcifying odontogenic cyst: 3-year follow-up in a child patient
Calcifying odontogenic cyst (COC) is a development cyst and was first described in 1962 by Gorlin. It is characterized by odontogenic epithelial lining containing calcifications and focal ghost cells. Our study presents a case of an 11-year-old patient who presented an asymptomatic swelling on the right anterior maxilla, with elevation of the ala of the nose for 4 months. Intraoral examination revealed a swelling of the vestibular sulcus and persistence of the temporary lateral incisor. Computed tomography presented a well-defined hypodense image associated with an unerupted tooth. (Source: Oral Surgery, Oral Medicine, Ora...
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - June 15, 2023 Category: ENT & OMF Authors: Maria Em ília Mota Galdino FERREIRA, Saygo TOMO, Osias Vieira de OLIVEIRA-FILHO, Leticia Beatriz da Cruz SANTOS, Rodrigo Nascimento LOPES, Fábio de Abreu ALVES, André Caroli ROCHA 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:37302483 | DOI:10.1016/j.ad.2023.06.011 (Source: Actas Dermo-Sifiliograficas)
Source: Actas Dermo-Sifiliograficas - June 11, 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
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:37302483 | DOI:10.1016/j.ad.2023.06.011 (Source: Actas Dermo-Sifiliograficas)
Source: Actas Dermo-Sifiliograficas - June 11, 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
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:37302483 | DOI:10.1016/j.ad.2023.06.011 (Source: Actas Dermo-Sifiliograficas)
Source: Actas Dermo-Sifiliograficas - June 11, 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
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)
Source: Transfusion - June 2, 2023 Category: Hematology Authors: Vanessa Reynolds Nancy L Van Buren Jed B Gorlin Source Type: research
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)
Source: Transfusion - June 2, 2023 Category: Hematology Authors: Vanessa Reynolds Nancy L Van Buren Jed B Gorlin Source Type: research
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)
Source: Transfusion - June 2, 2023 Category: Hematology Authors: Vanessa Reynolds Nancy L Van Buren Jed B Gorlin Source Type: research
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)
Source: Transfusion - June 2, 2023 Category: Hematology Authors: Vanessa Reynolds Nancy L Van Buren Jed B Gorlin Source Type: research
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)
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)
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
