Genetics Home Reference: Meier-Gorlin syndrome

Source: NLM General Announcements - Category: Databases & Libraries Source Type: news

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Authors: Miraglia E, Laghi A, Iacovino C, Moramarco A, Giustini S PMID: 33026215 [PubMed - as supplied by publisher]
Source: Giornale Italiano di Dermatologia e Venereologia - Category: Dermatology Tags: G Ital Dermatol Venereol Source Type: research
Abstract High distress intolerance (DI: often assessed as anxiety sensitivity) and low working memory capacity (WMC) have each been identified as risk factors for negative health behaviors. To our knowledge, these risk factors have only been studied independently. The current study investigated both the independent and interactive effects of DI and WMC in predicting health-related goal attainment in 118 undergraduates who self-selected a health-related goal. Participants received one of three interventions: values clarification, action planning, or a combination of the two. Across these interventions, we found tha...
Source: Cognitive Behaviour Therapy - Category: Psychiatry & Psychology Authors: Tags: Cogn Behav Ther Source Type: research
ner B Abstract Intracardiac tumors in children are relatively rare, but their clinical consequences may include severe outflow tract obstruction, embolism, cardiac insufficiency, or rhythm disturbances. In some cases, the tumor may constitute part of a genetic condition and prompt additional investigations, as well as a modification of therapeutic management. Herein, we present a molecularly confirmed familial case of Gorlin syndrome with an early cardiac tumor as a presenting sign. We provide detailed clinical characteristics of the affected individuals and a useful review of syndromic causes of pediatric cardiac...
Source: J Appl Genet - Category: Genetics & Stem Cells Authors: Tags: J Appl Genet Source Type: research
Conclusions: It is possible that the biological behavior of OKCs may be related to the suprabasal proliferative compartment in the cystic epithelium as observed. These proteins may participate in the regulation of epithelial cell differentiation. Taken together, these data may favor tumerigenesis on OKCs.
Source: Journal of Oral and Maxillofacial Pathology - Category: ENT & OMF Authors: Source Type: research
Shikha Saxena, Krishna Sireesha Sundaragiri, Akshay Bhargava, Bharat SankhlaJournal of Oral and Maxillofacial Pathology 2020 24(2):315-321 Nevoid basal-cell carcinoma syndrome (NBCCS) or Gorlin–Goltz syndrome is an autosomal dominant-inherited condition that exhibits high penetrance and variable expressivity; however, this disorder can arise spontaneously. In 1960, Gorlin and Goltz described the syndrome as a condition, comprising the principle triad of multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies. The diagnostic findings of NBCCS in four patients were studied and compared with othe...
Source: Journal of Oral and Maxillofacial Pathology - Category: ENT & OMF Authors: Source Type: research
Conclusions: It is possible that the biological behavior of OKCs may be related to the suprabasal proliferative compartment in the cystic epithelium as observed. These proteins may participate in the regulation of epithelial cell differentiation. Taken together, these data may favor tumerigenesis on OKCs.
Source: Journal of Oral and Maxillofacial Pathology - Category: ENT & OMF Authors: Source Type: research
Shikha Saxena, Krishna Sireesha Sundaragiri, Akshay Bhargava, Bharat SankhlaJournal of Oral and Maxillofacial Pathology 2020 24(2):315-321 Nevoid basal-cell carcinoma syndrome (NBCCS) or Gorlin–Goltz syndrome is an autosomal dominant-inherited condition that exhibits high penetrance and variable expressivity; however, this disorder can arise spontaneously. In 1960, Gorlin and Goltz described the syndrome as a condition, comprising the principle triad of multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies. The diagnostic findings of NBCCS in four patients were studied and compared with othe...
Source: Journal of Oral and Maxillofacial Pathology - Category: ENT & OMF Authors: Source Type: research
Objective: To evaluate the immunoexpression of autophagy-related proteins (p62 and Atg7) in odontogenic keratocysts associated with Gorlin syndrome (SOKCs) and nonsyndromic odontogenic keratocysts (NSOKCs).Study design: The percentages of immunopositive cells (nuclear and cytoplasmic/membrane) for p62 and Atg7 in the epithelial component of 25 SOKCs and 25 NSOKCs were assessed. The results were analyzed statistically using the nonparametric Mann-Whitney U test and Spearman correlation test. Results: Expression of p62 and Atg7 was observed in all cases studied.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - Category: ENT & OMF Authors: Tags: 20190121 Source Type: research
The nevoid basal cell carcinoma syndrome (NBCCS) is a genetic disorder that affects the PTCH gene, which is highly associated with tumor suppression. It presents a case of NBCCS diagnosed in a 49-year-old Caucasian male. His medical history has shown a great number of surgical procedures for the removal of lesions that are common to the syndrome. One of the lesions was removed from the mandible and sent for biopsy. The patient was diagnosed by means of a jaw biopsy conducted by a buccomaxillofacial surgeon, and histopathologic sections showed a diagnosis of odontogenic keratocyst (OKC) and squamous cell carcinoma (SCC).
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - Category: ENT & OMF Authors: Tags: 20190763 Source Type: research
This study reports the case of a 27-year-old woman with GGS who was followed-up for 17 years.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - Category: ENT & OMF Authors: Tags: 20190452 Source Type: research
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