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Effective anti-PD-1 therapy in a SUFU-mutated patient with Gorlin-Goltz syndrome.
This article is protected by copyright. All rights reserved. PMID: 29603722 [PubMed - as supplied by publisher]
Source: The British Journal of Dermatology - March 30, 2018 Category: Dermatology Authors: Moreira A, Kirchberger MC, Toussaint F, Erdmann M, Schuler G, Heinzerling L Tags: Br J Dermatol Source Type: research

Nurturing Our Better Nature: A Proposal for Cognitive Integrity as a Foundation for Autonomous Living.
Abstract As we account for the genetic and environmental influences on morally-relevant character traits like intellectual honesty, industriousness, and self-control, do we risk becoming ever less accountable to ourselves? Behavioral genetic research suggests that about half the variance in such character traits is likely attributable to heredity, and a small fraction to the shared family environment. The remaining 40-60% is explained by neither genes nor family upbringing. This raises the question: how active a role can individuals play in shaping their own character? What, if anything, can and should one do to t...
Source: Behavior Genetics - August 12, 2018 Category: Genetics & Stem Cells Authors: Gorlin EI, Schuur R Tags: Behav Genet Source Type: research

Gorlin-Goltz Syndrome: Report of Two Cases From the Same Family
Gorlin-Goltz syndrome, a hereditary autosomal dominant disorder characterized by multiple odontogenic keratocysts and basal cell carcinoma, may exhibit muscle, bone, neurologic, and endocrine alterations. A 45-year-old woman was referred by the genetic department for oral evaluation. An extra-oral examination showed multiple scars on the face; the patient reported the removal of several basal cell carcinomas. The panoramic radiograph revealed a unilocular radiolucent lesion in the right mandibular body.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - September 1, 2018 Category: ENT & OMF Authors: Gabriela Alacarini Farina, Carolina Dummel, Julia Turra Ribeiro, Stefanie Thieme Perotto, Andressa Cristina Hashigushi De Almeida, Marina Girardi Schueigart, Marco Antonio Trevizani Martins Tags: Oral and Maxillofacial Pathology Source Type: research

Electronic patient identification for sample labeling reduces wrong blood in tube errors.
CONCLUSION: In this study, using electronic patient identification at the time of pretransfusion sample collection was associated with approximately fivefold fewer WBIT errors compared with using manual patient identification. WBIT rates were high among mislabeled (rejected) samples, confirming that rejecting samples with even minor labeling errors helps mitigate the risk of ABO-incompatible transfusions. PMID: 30549289 [PubMed - as supplied by publisher]
Source: Transfusion - December 14, 2018 Category: Hematology Authors: Kaufman RM, Dinh A, Cohn CS, Fung MK, Gorlin J, Melanson S, Murphy MF, Ziman A, Elahie AL, Chasse D, Degree L, Dunbar NM, Dzik WH, Flanagan P, Gabert K, Ipe TS, Jackson B, Lane D, Raspollini E, Ray C, Sharon Y, Ellis M, Selleng K, Staves J, Yu P, Zeller M Tags: Transfusion Source Type: research

The effect of ampule size of fentanyl on perioperative intravenous opioid dosing
Conclusions: A change in the ampule size significantly affected intraoperative dosing, PACU pain scores, and PACU length of stay in patients undergoing robotically assisted laparoscopic radical prostatectomy under general anesthesia. This was explained by clinician's desire to conserve the drug and avoid the complex process of narcotic waste disposal.
Source: Journal of Anaesthesiology Clinical Pharmacology - January 3, 2019 Category: Anesthesiology Authors: David M Rosenfeld Kathleen E Knapp Joshua A Spiro Andrew W Gorlin Harish Ramakrishna Terrence L Trentman Source Type: research

Multidisciplinary oral rehabilitation of an adolescent suffering from juvenile Gorlin-Goltz syndrome – a case report
The Gorlin-Goltz syndrome is an autosomal dominant disorder characterized by keratocystic odontogenic tumors in the jaws, multiple basal cell carcinomas and skeletal abnormities. Frequently, the manifestation ...
Source: Head and Face Medicine - February 8, 2019 Category: ENT & OMF Authors: Manfred Nilius, J ürgen Kohlhase, Johann Lorenzen, Günter Lauer and Matthias C. Schulz Tags: Case report Source Type: research

An enigma of Gorlin & #8211;Goltz syndrome: Two cases reported in mother and daughter
In this study, we present a rare case of GGS in a mother and her daughter. The purpose of this study is to discuss the role of a dentist in early detection and the need for a multidisciplinary approach for the treatment of this syndrome.
Source: Journal of Oral and Maxillofacial Pathology - February 22, 2019 Category: ENT & OMF Authors: Sudipto Sahu Sushil Sahoo Rajarshi Banerjee Sucharu Ghosh Source Type: research

Gorlin syndrome presenting with primary infertility and bilateral calcified ovarian fibromas.
Authors: Bagga R, Garg S, Muthyala T, Kalra J, Kumar Saha P, Arora A, Singla R, Singh T, Gupta N PMID: 31020883 [PubMed - as supplied by publisher]
Source: Journal of Obstetrics and Gynaecology - April 26, 2019 Category: OBGYN Tags: J Obstet Gynaecol Source Type: research

Iron replacement: precautionary principle versus risk-based decision making.
PMID: 31050828 [PubMed - in process]
Source: Transfusion - April 30, 2019 Category: Hematology Authors: Gorlin JB Tags: Transfusion Source Type: research

Ten years of TRALI mitigation: measuring our progress.
CONCLUSION: Although the TRALI rates have substantially decreased secondary to multiple strategies over the past decade, a residual risk remains, particularly with female-donated plateletpheresis products. Additional tools that may further mitigate TRALI incidence include the use of buffy coat pooled platelets suspended in male donor plasma or platelet additive solution due to the lower amounts of residual plasma. PMID: 31145481 [PubMed - as supplied by publisher]
Source: Transfusion - May 29, 2019 Category: Hematology Authors: Vossoughi S, Gorlin J, Kessler DA, Hillyer CD, Van Buren NL, Jimenez A, Shaz BH Tags: Transfusion Source Type: research

Meta-analysis of gene expression for development and validation of a diagnostic biomarker panel for Oral Squamous Cell Carcinoma.
Abstract We use a newly developed feature extraction and classification method to analyze previously published gene expression data sets in Oral Squamous Cell Carcinoma and in healthy oral mucosa in order to find a gene set sufficient for diagnoses. The feature selection technology is based on the relative dichotomy power concept published by us earlier. The resulting biomarker panel has 100% sensitivity and 95% specificity, is enriched in genes associated with oncogenesis and invasive tumor growth, and, unlike marker panels devised in earlier studies, shows concordance with previously published marker genes. ...
Source: Computational Biology and Chemistry - July 1, 2019 Category: Bioinformatics Authors: Makarov V, Gorlin A Tags: Comput Biol Chem Source Type: research

Ocular manifestations in Gorlin-Goltz syndrome
Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity. It is ...
Source: Orphanet Journal of Rare Diseases - September 18, 2019 Category: Internal Medicine Authors: Antonietta Moramarco, Ehud Himmelblau, Emanuele Miraglia, Fabiana Mallone, Vincenzo Roberti, Federica Franzone, Chiara Iacovino, Sandra Giustini and Alessandro Lambiase Tags: Research Source Type: research

How do I incorporate red cell genotyping to improve chronic transfusion therapy?
CONCLUSION: We demonstrate how a CTTP can be developed in a community hospital through collaboration with the blood supplier, hospital, and clinical care team. A model of incorporating RBC genotyping informs risk for alloimmunization and allows consideration of transfusion strategy for providing prophylactic antigen matched blood. PMID: 31758587 [PubMed - as supplied by publisher]
Source: Transfusion - November 22, 2019 Category: Hematology Authors: Van Buren NL, Gorlin JB, Corby SM, Cassidy S, FritchLilla S, Nelson SC, Westhoff CM Tags: Transfusion Source Type: research

Gorlin-Goltz Syndrome: A Rare Syndrome Presenting as an Even Rarer de Novo Case with Numerous Features and Complications.
Abstract A 76-year-old woman with intellectual deficit presented with a small, pearly, telangiectatic raised lesion on the left cheek, together with an ulcerated lesion on the right side of the nose (Figure 1), which were clinically diagnosed as basal cell carcinomas (BCCs.) These were treated with cryotherapy. The patient had had a right hemimandibulectomy (Figure 1), and she showed frontal and temporal bossing and a wide nasal bridge. PMID: 31782707 [PubMed - in process]
Source: Skinmed - December 1, 2019 Category: Dermatology Authors: Galdes C, Mintoff D, Clark E Tags: Skinmed Source Type: research

The complex dental and oral surgical management with 8-year follow up of a Gorlin ‒Goltz syndrome patient.
[The complex dental and oral surgical management with 8-year follow up of a Gorlin‒Goltz syndrome patient]. Orv Hetil. 2020 Jan;161(2):67-74 Authors: Gurdán Z, Gelencsér G, Lengyel Z, Szalma J Abstract Gorlin-Goltz syndrome is an autosomal dominant hereditary disease. Its leading symptoms include keratocysts of the jaws, multiple basal cell carcinomas, skeletal abnormalities, intracranial calcifications and dyskeratosis of the soles and palms. One of the most common and often firstly discovered symptoms is the single or multiplex keratocysts of the jaws. The authors present a case of a child, diag...
Source: Orvosi Hetilap - December 31, 2019 Category: General Medicine Authors: Gurdán Z, Gelencsér G, Lengyel Z, Szalma J Tags: Orv Hetil Source Type: research