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Gorlin syndrome

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https://www.readbyqxmd.com/read/28489118/analysis-of-glut-1-glut-3-and-angiogenic-index-in-syndromic-and-non-syndromic-keratocystic-odontogenic-tumors
#1
Rafaella Bastos Leite, Roberta Barroso Cavalcante, Renato Luiz Maia Nogueira, Lélia Batista de Souza, Leão Pereira Pinto, Cassiano Francisco Weege Nonaka
The aim of this study was to evaluate the immunoexpression of glucose transporters 1 (GLUT-1) and 3 (GLUT-3) in keratocystic odontogenic tumors associated with Gorlin syndrome (SKOTs) and non-syndromic keratocystic odontogenic tumors (NSKOTs), and to establish correlations with the angiogenic index. Seventeen primary NSKOTs, seven recurrent NSKOTs, and 17 SKOTs were selected for the study. The percentage of immunopositive cells for GLUT-1 and GLUT-3 in the epithelial component of the tumors was assessed. The angiogenic index was determined by microvessel count...
April 27, 2017: Brazilian Oral Research
https://www.readbyqxmd.com/read/28455727/perioperative-considerations-for-patients-with-sickle-cell-disease-a-narrative-review
#2
Narjeet Khurmi, Andrew Gorlin, Lopa Misra
PURPOSE: Approximately 200,000 individuals worldwide are born annually with sickle cell disease (SCD). Regions with the highest rates of SCD include Africa, the Mediterranean, and Asia, where its prevalence is estimated to be 2-6% of the population. An estimated 70,000-100,000 people in the United States have SCD. Due to enhanced newborn screening, a better understanding of this disease, and more aggressive therapy, many sickle cell patients survive into their adult years and present more frequently for surgery...
April 28, 2017: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
https://www.readbyqxmd.com/read/28425089/high-diagnostic-yield-of-clinically-unidentifiable-syndromic-growth-disorders-by-targeted-exome-sequencing
#3
Yoo-Mi Kim, Yun-Jin Lee, Jae Hong Park, Hyoung-Doo Lee, Chong Kun Cheon, Su-Young Kim, Jae-Yeon Hwang, Ja-Hyun Jang, Han-Wook Yoo
As syndromic short stature and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping. Early diagnosis leads to the proper management of the patient and providing genetic counseling for family members at risk in a timely manner. We conducted targeted exome sequencing to identify the genetic causes of undiagnosed syndromic short stature or overgrowth in 15 pediatric patients from 13 families in Korea...
April 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28328109/a-cohort-study-of-gorlin-syndrome-with-emphasis-on-standardised-phenotyping-and-quality-of-life-assessment
#4
Aamira J Huq, Michael Bogwitz, Alexandra Gorelik, Ingrid M Winship, Susan M White, Alison H Trainer
BACKGROUND: Gorlin syndrome (Nevoid Basal Cell Carcinoma Syndrome) is a rare genetic predisposition to basal cell carcinomas (BCCs), keratocysts of the jaw and calcification of the falx cerebri amongst other clinical features. With the advent of sonic hedgehog inhibitors for the treatment of BCCs, it is timely to establish a cohort of individuals with Gorlin syndrome and collect standardised phenotypic information on these individuals. Moreover, the health-related quality of life (QoL) in individuals with Gorlin syndrome is not well studied...
March 22, 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28198391/mcm5-a-new-actor-in-the-link-between-dna-replication-and-meier-gorlin-syndrome
#5
Annalisa Vetro, Salvatore Savasta, Annalisa Russo Raucci, Cristina Cerqua, Geppo Sartori, Ivan Limongelli, Antonella Forlino, Silvia Maruelli, Paola Perucca, Debora Vergani, Giuliano Mazzini, Andrea Mattevi, Lucia Anna Stivala, Leonardo Salviati, Orsetta Zuffardi
Meier-Gorlin syndrome (MGORS) is a rare disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recessive mutations in ORC1, ORC4, ORC6, CDT1, CDC6, and CDC45, encoding members of the pre-replication (pre-RC) and pre-initiation (pre-IC) complexes, and heterozygous mutations in GMNN, a regulator of cell-cycle progression and DNA replication, have already been associated with this condition. We performed whole-exome sequencing (WES) in a patient with a clinical diagnosis of MGORS and identified biallelic variants in MCM5...
May 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28193761/teaching-neuroimages-clinical-and-neuroimaging-features-in-gorlin-goltz-syndrome
#6
Giuliano da Paz Oliveira, Nara Lívia Rezende Soares, Ricardo Lira Araújo, Lívia Almeida Dutra, José Luiz Pedroso, Orlando G P Barsottini
No abstract text is available yet for this article.
February 14, 2017: Neurology
https://www.readbyqxmd.com/read/28188086/two-intermittent-vismodegib-dosing-regimens-in-patients-with-multiple-basal-cell-carcinomas-mikie-a-randomised-regimen-controlled-double-blind-phase-2-trial
#7
Brigitte Dréno, Rainer Kunstfeld, Axel Hauschild, Scott Fosko, David Zloty, Bruno Labeille, Jean-Jacques Grob, Susana Puig, Frank Gilberg, Daniel Bergström, Damian R Page, Gary Rogers, Dirk Schadendorf
BACKGROUND: Vismodegib, a first-in-class Hedgehog-pathway inhibitor, is approved for use in adults with advanced basal-cell carcinoma. Patients with multiple basal-cell carcinomas, including those with basal-cell nevus (Gorlin) syndrome, need extended treatment. We assessed the safety and activity of two long-term intermittent vismodegib dosing regimens in patients with multiple basal-cell carcinomas. METHODS: In this randomised, regimen-controlled, double-blind, phase 2 trial, we enrolled adult patients with multiple basal-cell carcinomas, including those with basal-cell nevus syndrome, who had one or more histopathologically confirmed and at least six clinically evident basal-cell carcinomas...
March 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28186598/-a-boy-with-meier-gorlin-syndrome-carrying-a-novel-orc6-mutation-and-uniparental-disomy-of-chromosome-16
#8
Juan Li, Yu Ding, Guoying Chang, Qing Cheng, Xin Li, Jian Wang, Xiumin Wang, Yiping Shen
OBJECTIVE: To identify the genetic cause for a 11-year-old Chinese boy with Meier-Gorlin syndrome (MGS). METHODS: Chromosomal microarray analysis (CMA) was used to detect potential variations, while whole exome sequencing (WES) was used to identify sequence variants. Sanger sequencing was used to confirm the suspected variants. RESULTS: The boy has featured short stature, microtia, small patella, slender body build, craniofacial anomalies, and small testes with normal gonadotropin...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28112645/structure-of-the-active-form-of-human-origin-recognition-complex-and-its-atpase-motor-module
#9
Ante Tocilj, Kin Fan On, Zuanning Yuan, Jingchuan Sun, Elad Elkayam, Huilin Li, Bruce Stillman, Leemor Joshua-Tor
Binding of the Origin Recognition Complex (ORC) to origins of replication marks the first step in the initiation of replication of the genome in all eukaryotic cells. Here, we report the structure of the active form of human ORC determined by X-ray crystallography and cryo-electron microscopy. The complex is composed of an ORC1/4/5 motor module lobe in an organization reminiscent of the DNA polymerase clamp loader complexes. A second lobe contains the ORC2/3 subunits. The complex is organized as a double-layered shallow corkscrew, with the AAA+ and AAA+-like domains forming one layer, and the winged-helix domains (WHDs) forming a top layer...
January 23, 2017: ELife
https://www.readbyqxmd.com/read/28000572/-vismodegib-for-basal-cell-carcinoma-targeted-therapy-in-case-of-locally-advanced-or-metastasised-disease
#10
M G H C Reinders, J B Terra, A K L Reyners, M J Aarts, E R M de Haas, K Mosterd
The development of the hedgehog pathway inhibitor vismodegib provides a new treatment option for metastasised and locally advanced basal cell carcinoma in which surgical excision or radiotherapy is contraindicated. Only a fraction of patients with basal cell carcinoma are eligible for this therapy, but it is effective in the majority of those who do receive vismodegib. However, development of tumour resistance is quite common and adverse events frequently lead to discontinuation of therapy. Intermittent treatment or combination therapy could reduce the occurrence of tumour resistance and diminish toxicity...
2016: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/27974011/use-of-anteromedial-thigh-perforator-flap-and-immunological-implications-of-gorlin-goltz-syndrome-a-case-study
#11
A Scalise, R Calamita, C Tartaglione, E Bolletta, G Di Benedetto, M Pierangeli
Gorlin-Goltz syndrome is mainly characterised by the development of numerous multicentric and relapsing cutaneous basal cell carcinomas (BCCs). A major problem for patients with Gorlin-Goltz syndrome is the large amount of BCCs that can invade the deep underlying structures, especially the face. Here, we describe the case of a 23-year-old male affected by Gorlin-Goltz syndrome. He had recurrent BCCs on a hairless scalp and dorsum since he was 17 years old and underwent four surgical procedures to excise BCCs, including a reconstruction with anteromedial thigh perforator flap...
December 2, 2016: Journal of Wound Care
https://www.readbyqxmd.com/read/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#12
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
January 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27857042/odontogenic-keratocysts-in-the-basal-cell-nevus-gorlin-goltz-syndrome-associated-with-paresthesia-of-the-lower-jaw-case-report-retrospective-analysis-of-a-representative-czech-cohort-and-recommendations-for-the-early-diagnosis
#13
Milan Hubacek, Tereza Kripnerova, Michaela Nemcikova, Anna Krepelová, Alena Puchmajerova, Marcela Malikova, Markéta Havlovicová, Jana Cadova, Roman Kodet, Milan Macek, Tatjana Dostalova
OBJECTIVES: Identification of early presenting signs of the Basal Cell Nevus (BCNS; synonyme Gorlin-Goltz) syndrome, which is associated with a principal triad of multiple basal cell nevi, jaw odontogenic keratocysts, and skeletal anomalies, in stomatological and neurological practices. Proposal of multidisciplinary diagnostic algorithm comprising other medical specialists, including pathology, imaging, laboratory and molecular analyses based on the study outcomes. DESIGN: Case report of a male patient reporting paresthesia of their lower jaw, with right facial asymmetry (maxilla and mandible) and radiological detection of large osteolytic lesions in both jaws, including a retrospective analysis of a representative Czech cohort with BCNS from within the last decade...
September 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/27847737/treatment-of-nevoid-basal-cell-carcinoma-syndrome-a-case-report
#14
Dong-Uk Seo, Su-Gwan Kim, Ji-Su Oh, Jae-Seek You
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is characterized by various embryological deformities and carcinoma formation. It is caused by PTCHI gene mutations and is autosomal dominantly inherited. Some of the main symptoms of NBCCS are multiple basal cell carcinomas, multiple keratocystic odontogenic tumors (KCOTs) of the mandible, hyperkeratosis of the palmar and plantar, skeletal deformity, calcification of the falx cerebri, and facial defomity. Recurrent KCOT is the main symptom of NBCCS and is present in approximately 90% of patients...
October 2016: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/27843260/gorlin-goltz-syndrome-a-rare-case-report-of-a-11-year-old-child
#15
Sandeep Tandon, Yashwant Chauhan, Meenakshi Sharma, Manish Jain
Gorlin-Goltz Syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant trait caused due to mutations in the patched tumor suppressor gene (PTCH) gene found on the long arm of chromosome 9. The syndrome is characterized by the presence of odontogenic keratocysts (OKCs), basal cell carcinomas, and skeletal malformations. Early diagnosis of the syndrome can be done by pedodontist as OKC is one of the early manifestations of the syndrome. Early diagnosis and treatment is important for long-term prognosis of the syndrome by reducing the severity of cutaneous carcinomas and deformities due to jaw cyst...
July 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/27782094/photodynamic-therapy-and-non-melanoma-skin-cancer
#16
REVIEW
Liezel L Griffin, John T Lear
Non-melanoma skin cancer (NMSC) is the most common malignancy among the Caucasian population. Photodynamic therapy (PDT) is gaining popularity for the treatment of basal cell carcinoma (BCC), Bowen's disease (BD) and actinic keratosis (AK). A topical or systemic exogenous photosensitiser, results in selective uptake by malignant cells. Protoporphyrin IX (PpIX) is produced then activated by the introduction of a light source. Daylight-mediated MAL (methyl aminolaevulinate) PDT for AKs has the advantage of decreased pain and better patient tolerance...
October 22, 2016: Cancers
https://www.readbyqxmd.com/read/27647915/mechanism-of-inhibition-of-the-tumor-suppressor-patched-by-sonic-hedgehog
#17
Hanna Tukachinsky, Kostadin Petrov, Miyako Watanabe, Adrian Salic
The Hedgehog cell-cell signaling pathway is crucial for animal development, and its misregulation is implicated in numerous birth defects and cancers. In unstimulated cells, pathway activity is inhibited by the tumor suppressor membrane protein, Patched. Hedgehog signaling is triggered by the secreted Hedgehog ligand, which binds and inhibits Patched, thus setting in motion the downstream events in signal transduction. Despite its critical importance, the mechanism by which Hedgehog antagonizes Patched has remained unknown...
October 4, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27647326/glypican-3-distinguishes-aggressive-from-non-aggressive-odontogenic-tumors-a-preliminary-study
#18
Ramon Barreto Mendes, Rosane Borges Dias, Andreia Leal Figueiredo, Clarissa Araújo Gurgel, Manoel Santana Filho, Leonardo Araújo Melo, Marília Trierveiler, Patrícia Ramos Cury, Rosalia Leonardi, Jean Nunes Dos Santos
BACKGROUND: Glypican-3 is a cell surface proteoglycan that is found in embrionary tissues, and there are no studies investigating this protein in odontogenic tumor. Thus, the aim of this study was to investigate glypican-3 in a series of aggressive and non-aggressive odontogenic tumors. METHODS: Fifty-nine cases of tumors were divided into aggressive odontogenic tumors (20 solid ameloblastomas, four unicystic ameloblastoma, 28 KOTs including five associated with Gorlin-Goltz syndrome) and non-aggressive odontogenic tumors (five adenomatoid odontogenic tumors and two calcifying cystic odontogenic tumors) and analyzed for glypican-3 using immunohistochemistry...
April 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/27595027/combined-hamartoma-of-the-retina-and-retinal-pigment-epithelium-in-a-patient-with-gorlin-syndrome-spontaneous-partial-resolution-of-traction-caused-by-epiretinal-membrane
#19
José L Sánchez-Vicente, Miguel Contreras-Díaz, Trinidad Rueda, Enrique Rodríguez de la Rúa-Franch, Fredy E Molina-Socola, Cristina Vital-Berral, Asunción Alfaro-Juárez, Fernando López-Herrero, Ana Muñoz-Morales
Purpose. To describe the case of spontaneous resolution of epiretinal membrane in a patient with Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHR-RPE), in the clinical context of Gorlin Syndrome (GS). Methods. Observational case report of a 12-year-old female patient is presented. The diagnosis of CHRRPE was made by OCT and fundus examination, which showed a mound of disorganized tissue originating from retina and retinal pigment epithelium. Epiretinal membrane (EM) was also detected. Genetic study was performed to confirm the diagnosis of GS...
2016: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/27579759/syndrome-in-question-gorlin-goltz-syndrome
#20
Pauline Lyrio Ribeiro, João Basílio de Souza, Karina Demoner de Abreu, Marisa Simon Brezinscki, Christine Chambo Pignaton
The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome...
July 2016: Anais Brasileiros de Dermatologia
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