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Total 794 results found since Jan 2013.

Unusual keratocyst causing erosion of the orbital floor in gorlin syndrome
Odontogenic keratocysts are major criteria in the diagnosis of Gorlin syndrome and can occur on both jaws, achieving great proportions without intervention. The occurrence of a keratocyst extending to the orbital floor has not been reported in the literature so far. In 2019, a 43-year-old female with the diagnosis of Gorlin syndrome and previous jaw surgical interventions presented with an extensive cystic lesion in the left maxilla leading to bone reabsorption of the orbital floor without ocular symptoms.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Priscila Abranches De Britto Pinheiro, L ígia Gabrielle Sanches Mariotto, André Caroli Rocha Source Type: research

Diagnosis of gorlin-goltz syndrome in a pediatric patient
We presented a rare case of GGS in an 11-year-old female patient. Extraoral clinical examination showed discrete frontal bossing, hypertelorism, and palmoplantar pits.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Andr é Luis Silva Santos, John Lennon Silva Cunha, Ricardo Luiz Cavalcanti De Albuquerque, Aline Corrêa Abrahão, Mário José Romañach, Bruno Augusto Benevenuto De Andrade, Saygo Tomo Source Type: research

Gorlin-goltz syndrome: a report of two clinical cases with diagnosis and treatment at hospital level
Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare hereditary autosomal dominant condition, with high penetrance and variable expressivity. The aim of this study is to report 2 cases diagnosed at emergency hospital units with the specialty of maxillofacial surgery and traumatology. The first refers to a 10-year-old patient who sought consultation due to an expressive increase in the maxilla volume with panoramic radiography evidencing multiple unilocular radiolucent images in the gnathic bones.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Kelly Tambasco Bezerra, Gabriela Later ça Da Silva Abreu, Jackeline Nogueira De Paula Barros, Regina Celia De Souza Jesus Rangel, Alexandre Moreira De Moraes, Fábio Ramôa Pires, Águida Maria Menezes Aguiar Miranda Source Type: research

Multiple odontogenic keratocysts: sole manifestation of gorlin-goltz syndrome or isolated non-syndromic presentation?
A 15-year-old boy was referred for evaluation of radiolucent lesions associated with bilateral impacted third molars. Clinical exam revealed cortical expansion of maxilla. Panoramic imaging and computed tomography showed bilateral involvement of the maxillary sinus and smaller mandibular lesions. Mandibular lesions were managed through enucleation plus osteotomy and maxillary lesions were decompressed. Histological analysis of hematoxylin and eosin –stained slides from all lesions revealed a cystic cavity lined by parakeratinized stratified squamous epithelium and a well-defined basal cell layer with polarized nuclei in ...
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Arthur Lemos Oliveira, Bruna Das Gra ças Miranda Coutinho, Alice Maria De Oliveira Silva, Fábio Ramôa Pires, Shimelly Monteiro De Castro Lara, Bruno Santos De Barros Dias, Thayanne Brasil Barbosa Calcia Source Type: research

Treatment of keratocysts in carrier of gorlin-goltz syndrome: case report
This study reports the treatment of multiple keratocysts in a 13-year-old Afro-White male patient with facial asymmetry caused by the increased volume seen in the jaw and lower jaw. Pigmented macules on the face and skeletal anomalies were also observed. Image exams exhibited multiple unilocular radiolucent lesions in the maxilla and mandible.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Daniela Gomes Castro Dos Santos, Matheus Gon çalves Ferreira Leal, Raphael Lobo Blanquet Ribeiro, Eduardo César Lima Silvia De Miranda, Alena Peixoto Medrado, Silvia Regina De Almeida Reis, Antônio Lucindo Sobrinho Source Type: research

Photodynamic therapy in pediatric age: Current applications and future trends
Photodynamic therapy (PDT) is a photochemotherapy based on local application of a photosensitive compound and subsequent exposure to a light source of adequate wavelength. It is a non-invasive therapeutic procedure widely used in oncodermatology for treatment of numerous skin cancers, but in the last years its use has been gradually extended to an increasing list of skin diseases of both infectious and inflammatory nature. Although PDT is proven as a safe and effective therapeutic option in adults, its use is not well standardized in the pediatric population. In this review, we will focus on clinical applications, mechanis...
Source: Frontiers in Pharmacology - August 16, 2022 Category: Drugs & Pharmacology Source Type: research

Clinical Practice Guidelines From the Association for the Advancement of Blood and Biotherapies (AABB): COVID-19 Convalescent Plasma
Ann Intern Med. 2022 Aug 16. doi: 10.7326/M22-1079. Online ahead of print.ABSTRACTDESCRIPTION: Coronavirus disease 2019 convalescent plasma (CCP) has emerged as a potential treatment of COVID-19. However, meta-analysis data and recommendations are limited. The Association for the Advancement of Blood and Biotherapies (AABB) developed clinical practice guidelines for the appropriate use of CCP.METHODS: These guidelines are based on 2 living systematic reviews of randomized controlled trials (RCTs) evaluating CCP from 1 January 2019 to 26 January 2022. There were 33 RCTs assessing 21 916 participants. The results were summar...
Source: Annals of Internal Medicine - August 15, 2022 Category: Internal Medicine Authors: Lise J Estcourt Claudia S Cohn Monica B Pagano Claire Iannizzi Nina Kreuzberger Nicole Skoetz Elizabeth S Allen Evan M Bloch Gregory Beaudoin Arturo Casadevall Dana V Devine Farid Foroutan Thomas J Gniadek Ruchika Goel Jed Gorlin Brenda J Grossman Michael Source Type: research

< em > PTCH1 < /em > mutant small cell glioblastoma in a patient with Gorlin syndrome: A case report
Oncol Lett. 2022 Jul 27;24(3):326. doi: 10.3892/ol.2022.13446. eCollection 2022 Sep.ABSTRACTGorlin syndrome or nevoid basal cell carcinoma syndrome is a rare genetic disease characterized by predisposition to congenital defects, basal cell carcinomas and medulloblastoma. The syndrome results from a heritable mutation in PATCHED1 (PTCH1), causing constitutive activation of the Hedgehog pathway. The present study described a patient with Gorlin syndrome who presented early in life with characteristic basal cell carcinomas and later developed a small cell glioblastoma (GBM), World Health Organization grade IV, associated with...
Source: Oncology Letters - August 11, 2022 Category: Cancer & Oncology Authors: John T Dorsey Ryan T Mott Christopher M Lack Nicholas Britt Shakti H Ramkissoon Bonny B Morris Annette Carter Alisha T Detroye Michael Chan Stephen Tatter Glenn J Lesser Source Type: research

Distinct non-clock-like signatures of the basal cell carcinomas from three sisters with a lethal Gorlin-Goltz syndrome
Gorlin-Goltz syndrome (GS) is an inherited disease characterized by predisposition to basal cell carcinomas (BCCs) and various developmental defects, whose numerous disease-causing PTCH1 mutations have been ident...
Source: BMC Medical Genomics - August 5, 2022 Category: Genetics & Stem Cells Authors: Lihua Ye, Li Wang, Kexin Peng, Ou Fang, Zhen Tian, Caihua Li, Xiaopeng Fu, Qingdong Chen, Jia Chen, Jing Luan, Zhenghua Zhang and Qiaoan Zhang Tags: Research Source Type: research

Vismodegib in Locally Advanced Basal Cell Carcinoma in Slovenia
Conclusion: Vismodegib has shown meaningful efficacy with DCR from 95% to 100% in patients with laBCC, multiple BCC, and G-G Syn in Slovenia. TEAEs were successfully alleviated with multidisciplinary approach and early supportive care.Dermatology
Source: Dermatology - July 27, 2022 Category: Dermatology Source Type: research

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
Conclusion GINS2 is a new disease-associated gene, expanding the genetic aetiology of MGORS.
Source: Journal of Medical Genetics - July 21, 2022 Category: Genetics & Stem Cells Authors: Nabais Sa, M. J., Miller, K. A., McQuaid, M., Koelling, N., Wilkie, A. O. M., Wurtele, H., de Brouwer, A. P. M., Oliveira, J. Tags: Open access Genotype-phenotype correlations Source Type: research