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gorlin's syndrome

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https://www.readbyqxmd.com/read/28915250/multi-layered-mutation-in-hedgehog-related-genes-in-gorlin-syndrome-may-affect-the-phenotype
#1
Shoko Onodera, Akiko Saito, Daigo Hasegawa, Nana Morita, Katsuhito Watanabe, Takeshi Nomura, Takahiko Shibahara, Shinsuke Ohba, Akira Yamaguchi, Toshifumi Azuma
Gorlin syndrome is a genetic disorder of autosomal dominant inheritance that predisposes the affected individual to a variety of disorders that are attributed largely to heterozygous germline patched1 (PTCH1) mutations. PTCH1 is a hedgehog (Hh) receptor as well as a repressor, mutation of which leads to constitutive activation of Hh pathway. Hh pathway encompasses a wide variety of cellular signaling cascades, which involve several molecules; however, no associated genotype-phenotype correlations have been reported...
2017: PloS One
https://www.readbyqxmd.com/read/28865507/-gorlin-goltz-syndrome-diagnosis-and-treatment-options
#2
João Mendes-Abreu, Miguel Pinto-Gouveia, Cátia Tavares-Ferreira, Ana Brinca, Ricardo Vieira
The Gorlin-Goltz syndrome is a rare autosomal dominant hereditary condition, with complete penetrance and variable expressivity. Characterized by the appearance of multiple basaliomas, and often the development of keratocyst, it can also express itself by the presence of palmar/plantar depressions, calcification of brain sickle, and skeletal birth defects, although less frequently. This article presents two cases involving direct relatives, referred after the identification of several basaliomas and jaw cysts...
May 31, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28859029/very-long-term-sequelae-after-nonradical-surgery-combined-with-brachytherapy-in-an-infant-with-a-chemotherapy-resistant-rhabdomyosarcoma-of-the-tongue
#3
Petra M van Rijswijk, Marry M van den Heuvel-Eibrink, Erica L T van den Akker, Cleo Slagter, Maarten H Lequin, Femke K Aarsen, Jenneke E van Atteveld, Anja Wagner, Martine van Grotel
In 2003, van Grotel and colleagues reported an infant suffering a chemotherapy-resistant eRMS of the tongue, that was treated with subtotal tumor resection and brachytherapy after major medical ethical discussions. As no long-term sequelae of such a procedure have been described, perspectives were uncertain at that time. Now, after 15 years, we describe hypoplasia of the mandibula, compromised dentation, osteopenia, neuropsychological deficits, and moderate speech impairment as the most prominent late effects...
August 30, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28819517/dental-dermatological-and-radiographic-findings-in-a-case-of-gorlin-goltz-syndrome-report-and-review
#4
REVIEW
Kumar Nilesh, Shivsagar Tewary, Sameer Zope, Jinesh Patel, Aaditee Vande
Gorlin-Goltz syndrome (GGS) is a rare autosomal dominant disorder. The disease shows multiple organ involvement with variable clinical presentation. Thus a multidisciplinary approach is required for its prompt clinical diagnosis and management of this condition. This paper highlights a case of GGS presenting in a young male patient with cranial, facial, dermatological, dental and skeletal involvement. The diagnosis of the syndrome was based on its clinical presentation, radiological features and histopathological findings...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28733979/novel-clinical-and-molecular-findings-in-spanish-patients-with-nevoid-basal-cell-carcinoma-syndrome
#5
N Alonso, J Cañueto, S Ciria, E Bueno, I Palacios-Alvarez, M Alegre, C Badenas, A Barreiro, L Pena, C Maldonado, M V Nespeira-Jato, C Peña-Penabad, A Azon, M Gavrilova, I Ferrer, O Sanmartin, L Robles, A Hernandez, M Urioste, S Puig, L Puig, R Gonzalez-Sarmiento
Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal dominant disorder characterised by developmental alterations and multiple basal cell carcinomas. Mutations in PTCH1, a membrane receptor for Sonic Hedgehog, are associated with the development of the disease. Most of them produce a truncated protein which is unable to supress Smoothened protein and continuously activates the downstream pathway OBJECTIVES: We aimed to characterize 22 unrelated Spanish subjects with NBCCS, the largest cohort of Gorlin syndrome reported to date in Spain METHODS AND RESULTS: We reported for the first time two young patients with uterus didelphys and ganglioneuroma, within the context of NBCCS...
July 22, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28731248/lessons-to-be-learned-from-type-1-segmental-gorlin-syndrome
#6
R Happle
No abstract text is available yet for this article.
July 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28713753/removal-of-multiple-keratocystic-odontogenic-tumors-in-a-nonsyndromic-patient
#7
Artur Cunha Vasconcelos, Paulo Henrique de Souza Castro, Alvaro Henrique Borges, Luiz Evaristo Ricci Volpato
Multiple keratocystic odontogenic tumors are one of the key features of Gorlin-Goltz syndrome. A 15-year-old nonsyndromic female child presented with multiple keratocystic odontogenic tumors. The presence of the tumors was observed in immunological examinations. The images led to the suspicion of Gorlin-Goltz syndrome which was discarded after analyzing the patient's medical history and complementary examinations. Le Fort I osteotomy was opted to access the maxillary tumors favoring visibility and allowing simultaneous bilateral accesses...
January 2017: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28686751/muckle-wells-syndrome-in-the-setting-of-basal-cell-nevus-syndrome
#8
Marie Wagener, Joseph W Laskas, Stephen Purcell, Tanya Ermolovich
Muckle-Wells syndrome (MWS) is a rare disorder inherited in an autosomal-dominant fashion that belongs to a group of hereditary periodic fever syndromes. It specifically belongs to the cryopyrin-associated periodic syndromes (CAPSs) in which there is a mutation in the NLRP3 (NLR family pyrin domain containing 3) gene that leads to overproduction of IL-1β, the source of the multisystem inflammatory symptoms. Muckle-Wells syndrome is characterized by a recurrent urticarial eruption that is associated with episodic fever, myalgia, arthralgia, malaise, progressive sensorineural hearing loss, and amyloid nephropathy (the most severe complication)...
June 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28627087/familial-seborrhoeic-keratosis-associated-with-multiple-pure-reticulated-acanthomas-and-infundibulocystic-basal-cell-carcinomas
#9
J Agustí, R Bella-Navarro, A B García-García, E Bueno, R González-Sarmiento, L Navarro, B Sanchez-Sendra, A Revert, E Jordá, C Monteagudo
BACKGROUND: A variety of genodermatoses with multiple cutaneous tumors with germline genetic alterations such as Gorlin syndrome with PTCH1 gene mutations have been described. Other cutaneous syndromes have been associated with somatic gene mutations, such as FGFR3 in familial seborrhoeic keratosis. OBJECTIVE: We describe the clinical, dermoscopic, and histopathological features of multiple cutaneous lesions, mostly infundibulocystic basal cell carcinomas and pure reticulated acanthomas, present in a family affected by familial seborrhoeic keratosis...
June 18, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28620006/cancer-surveillance-in-gorlin-syndrome-and-rhabdoid-tumor-predisposition-syndrome
#10
REVIEW
William D Foulkes, Junne Kamihara, D Gareth R Evans, Laurence Brugières, Franck Bourdeaut, Jan J Molenaar, Michael F Walsh, Garrett M Brodeur, Lisa Diller
Gorlin syndrome and rhabdoid tumor predisposition syndrome (RTPS) are autosomal dominant syndromes associated with an increased risk of childhood-onset brain tumors. Individuals with Gorlin syndrome can manifest a wide range of phenotypic abnormalities, with about 5% of family members developing medulloblastoma, usually occurring in the first 3 years of life. Gorlin syndrome is associated with germline mutations in components of the Sonic Hedgehog pathway, including Patched1 (PTCH1) and Suppressor of fused (SUFU)SUFU mutation carriers appear to have an especially high risk of early-onset medulloblastoma...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28619674/frontal-cranioplasty-in-fronto-metaphyseal-dysplasia
#11
A Joly, A Pare, D Goga, B Laure
INTRODUCTION: Fronto-metaphyseal dysplasia (FMD), also called Gorlin-Cohen syndrome, is a rare syndrome initially described in 1969 by Gorlin and Cohen. Patients present skeletal dysplasia, craniofacial malformations and digit abnormalities. Craniofacial phenotype of FMD is characterized by supraorbital hyperostosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge and micrognathia. Here, we report the first adult case of craniofacial reconstruction with frontal cranioplasty in a patient with FMD...
June 12, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28616153/a-multidisciplinary-approach-to-the-successful-management-of-gorlin-syndrome
#12
Ryan N Mello, Zaki Khan, Umar Choudry
Gorlin-Goltz syndrome (GGS) is a rare genetic syndrome with variable expressivity and autosomal dominant inheritance. The major features of GGS include numerous basal cell carcinomas (BCCs), keratocysts of the jaw, palmar/plantar pits and calcification of the falx cerebri. Authors report the case of a 51-year-old male with a 19-year history of GGS and multiple BCCs of the head and neck. He presented with a large ulcerating lesion on the right side of his face involving cutaneous, subcutaneous and muscular tissues of the temporal and orbital region...
June 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28596197/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome
#13
D Gareth Evans, Deemesh Oudit, Miriam J Smith, David Rutkowski, Ernest Allan, William G Newman, John T Lear
BACKGROUND: Gorlin syndrome (GS) is an autosomal dominant syndrome characterised by multiple basal cell carcinomas (BCCs) and an increased risk of jaw cysts and early childhood medulloblastoma. Heterozygous germline variants in PTCH1 and SUFU encoding components of the Sonic hedgehog pathway explain the majority of cases. Here, we aimed to delineate genotype-phenotype correlations in GS. METHODS: We assessed genetic and phenotypic data for 182 individuals meeting the diagnostic criteria for GS (median age: 47...
August 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28489118/analysis-of-glut-1-glut-3-and-angiogenic-index-in-syndromic-and-non-syndromic-keratocystic-odontogenic-tumors
#14
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
#15
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
#16
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/cohort-study-of-gorlin-syndrome-with-emphasis-on-standardised-phenotyping-and-quality-of-life-assessment
#17
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 (BCC), keratocysts of the jaw and calcification of the falx cerebri among other clinical features. With the advent of sonic hedgehog inhibitors for the treatment of BCC, 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...
June 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28198391/mcm5-a-new-actor-in-the-link-between-dna-replication-and-meier-gorlin-syndrome
#18
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
#19
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
#20
RANDOMIZED CONTROLLED TRIAL
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
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