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Total 4439129 results found since Jan 2013.

Gorlin syndrome and SUFU germline mutations.
PMID: 25707883 [PubMed - as supplied by publisher]
Source: Annales de Dermatologie et de Cenereologie - February 20, 2015 Category: Dermatology Authors: Dereure O Tags: Ann Dermatol Venereol Source Type: research

Gorlin Goltz syndrome: A case report
Publication date: Available online 26 February 2015 Source:International Journal of Dental Science and Research Author(s): Mahesh Chander , Madan Mishra , Amit Gaur , Tasveer Fatima , Shubhamoy Mondal , Shishir Dhar Not many cases have been reported in India, and hence we report here a rare case of Gorlin Goltz syndrome (GGS) especially in young patients without any skin lesions. A 21 year old male reported to our department, with swelling in the lower posterior region of the right side of jaw since last 2 years. Thorough extraoral and intraoral examinations along with orthopantomogram (OPG), CT scan (skull) and chest ra...
Source: International Journal of Dental Science and Research - February 27, 2015 Category: Dentistry Source Type: research

Parkinsonism and gorlin-goltz syndrome: more than an incidental association?
Authors: Galati S, Städler C, Möller JC PMID: 25716511 [PubMed - in process]
Source: Journal of Neuropsychiatry and Clinical Neurosciences - February 28, 2015 Category: Psychiatry Tags: J Neuropsychiatry Clin Neurosci Source Type: research

Gorlin-Goltz syndrome: A rare case
We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.
Source: Indian Journal of Dermatology - March 3, 2015 Category: Dermatology Authors: Satyaki GangulyKranti C JaykarRajesh KumarAbhijeet Kumar JhaPK Banerjee Source Type: research

Laparoscopic treatment of sclerosing stromal tumor of the ovary in a woman with Gorlin-Goltz Syndrome: a case report and review of the literature
In women with Gorlin-Goltz syndrome, the rare association with the sclerosing stromal tumor of the ovary should be considered, and a fertility sparing laparoscopic approach is possible.
Source: The Journal of Minimally Invasive Gynecology - March 10, 2015 Category: OBGYN Authors: Gianluca Grechi, Nicolò Clemente, Alessandra Tozzi, Andrea Ciavattini Source Type: research

Improving red blood cell orders, utilization, and management with point-of-care clinical decision support.
CONCLUSION: Use of computerized orders and CDS encouraged a restrictive transfusion policy, which was highly successful in changing provider practices. We also succeeded in decreasing mean Hb triggers and overall utilization of RBCs. These findings persisted across many subpopulations. PMID: 25857393 [PubMed - as supplied by publisher]
Source: Transfusion - April 9, 2015 Category: Hematology Authors: McKinney ZJ, Peters JM, Gorlin JB, Perry EH Tags: Transfusion Source Type: research

Validation of Candidate Anxiety Disorder Genes Using a Carbon Dioxide Challenge Task.
Abstract Few replicable genetic variants have been identified in the etiology of heritable anxiety disorders such as panic disorder. Endophenotypic measures that have reduced heterogeneity may provide more powerful targets for gene identification. We assessed hypersensitivity to carbon dioxide (a reliable endophenotype of panic and anxiety) in 174 Caucasian college students, who were genotyped on 26 polymorphic markers from 11 genes previously associated with panic/anxiety. Individual trajectories of respiratory and subjective anxiety response to carbon dioxide were measured and tested for association with these g...
Source: Biological Psychology - April 22, 2015 Category: Psychiatry & Psychology Authors: Savage JE, McMichael O, Gorlin EI, Beadel JR, Teachman B, Vladimirov VI, Hettema JM, Roberson-Nay R Tags: Biol Psychol Source Type: research

Gorlin syndrome and desmoplastic medulloblastoma: Report of 3 cases with unfavorable clinical course and novel mutations
We present three cases of genetically confirmed Gorlin syndrome with desmoplastic medulloblastoma (DMB) in whom tumor recurred despite standard therapy. One patient was found to have a novel germline missense PTCH1 mutation. Molecular analysis of recurrent tumor using fluorescent in situ hybridization (FISH) revealed PTEN and/ or PTCH1 loss in 2 patients. Whole exome sequencing (WES) of tumor in one patient revealed loss of heterozygosity of PTCH1 and a mutation of GNAS gene in its non‐coding 3′ ‐untranslated region (UTR) with corresponding decreased protein expression. While one patient died despite high‐dose chem...
Source: Pediatric Blood and Cancer - May 4, 2015 Category: Cancer & Oncology Authors: Sridharan Gururangan, Giles Robinson, David W. Ellison, Gang Wu, Xuelian He, Q. Richard Lu, Roger McLendon, Gerald Grant, Timothy Driscoll, Ronnie Neuberg Tags: Brief Report Source Type: research

Cost implications of implementation of pathogen-inactivated platelets.
CONCLUSIONS: While PI implementation will result in additional costs, there are also potential offsetting cost reductions, especially after 7-day storage licensing. PMID: 25989465 [PubMed - as supplied by publisher]
Source: Transfusion - May 18, 2015 Category: Hematology Authors: McCullough J, Goldfinger D, Gorlin J, Riley WJ, Sandhu H, Stowell C, Ward D, Clay M, Pulkrabek S, Chrebtow V, Stassinopoulos A Tags: Transfusion Source Type: research

National Partnership for Maternal Safety: Consensus Bundle on Obstetric Hemorrhage.
Abstract Hemorrhage is the most frequent cause of severe maternal morbidity and preventable maternal mortality and therefore is an ideal topic for the initial national maternity patient safety bundle. These safety bundles outline critical clinical practices that should be implemented in every maternity unit. They are developed by multidisciplinary work groups of the National Partnership for Maternal Safety under the guidance of the Council on Patient Safety in Women's Health Care. The safety bundle is organized into four domains: Readiness, Recognition and Prevention, Response, and Reporting and System Learning. A...
Source: Anesthesia and Analgesia - June 20, 2015 Category: Anesthesiology Authors: Main EK, Goffman D, Scavone BM, Low LK, Bingham D, Fontaine PL, Gorlin JB, Lagrew DC, Levy BS Tags: Anesth Analg Source Type: research

Drosophila model of Meier‐Gorlin syndrome based on the mutation in a conserved C‐Terminal domain of Orc6
Meier‐Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, primordial dwarfism, small ears, and skeletal abnormalities. Patients with MGS often carry mutations in the genes encoding the components of the pre‐replicative complex such as Origin Recognition Complex (ORC) subunits Orc1, Orc4, Orc6, and helicase loaders Cdt1 and Cdc6. Orc6 is an important component of ORC and has functions in both DNA replication and cytokinesis. Mutation in conserved C‐terminal motif of Orc6 associated with MGS impedes the interaction of Orc6 with core ORC. In order to study the effects of MGS mutation in a...
Source: American Journal of Medical Genetics Part A - July 1, 2015 Category: Genetics & Stem Cells Authors: Maxim Balasov, Katarina Akhmetova, Igor Chesnokov Tags: Research Article Source Type: research

Gorlin Syndrome in a type IV-skin person with a novel PTCH1 mutation: Case Report and Literature Review
Publication date: Available online 1 September 2015 Source:Journal of Dermatology & Dermatologic Surgery Author(s): S. AlSalem, Y. Binamer Nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin Syndrome, is an autosomal dominant multisystem disorder, characterized by multiple developmental abnormalities and inactivation germline mutations in the human homolog of the patched (PTCH) gene. We are presenting a case of NBCCS in a skin type 4 Saudi male with a novel PTCH1 gene mutation. To the best of our knowledge, this is the third case reported in Saudi Arabia but the first in adult population. Moreover, our pati...
Source: Journal of Dermatology and Dermatologic Surgery - September 2, 2015 Category: Dermatology Source Type: research

Reduction in surgical procedures in patients with Gorlin syndrome when management associated with Topical Photodynamic therapy: report of two cases
Gorlin Syndrome (GS), also named nevoid basal cell carcinoma syndrome is a rare autosomal dominate syndrome caused by mutation in the suppressor gene (PTCH). It is characterized for appear the multiple basal cell carcinoma in early age, odontogenic keratocysts of the jaws, skeletal abnormalities, hyperkeratosis of palms and soles, skeletal abnormalities and facial dysmorphism. The treatment requires multiple surgical excisions and may lead to scars and multiples hospitalizations. Two patients with GS were included this report.
Source: Photodiagnosis and Photodynamic Therapy - September 1, 2015 Category: Laser Surgery Authors: Ana Gabriela Salvio, Dora Patricia Ramirez, Elisangela Ramos de Oliveira, Natalia Mayumi Inada, Cristina Kurachi, Vanderlei Salvador Bagnato Source Type: research

Meier-Gorlin syndrome
(MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood comprise a small mouth with full lips and micro-retrognathia. During ageing, a narrow, convex nose becomes more prominent. The diagnosis MGS should be considered in patients with at least two of the three features ...
Source: Orphanet Journal of Rare Diseases - September 17, 2015 Category: Internal Medicine Authors: Sonja de MunnikElisabeth H. HoefslootJolt RoukemaJeroen SchootsNine KnoersHan BrunnerAndrew JacksonErnie Bongers Source Type: research

De Novo Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five genes encoding pre-replication complex proteins: ORC1, ORC4, ORC6, CDT1, and CDC6. Mutations in these genes cause disruption of the origin of DNA replication initiation. To date, only an autosomal-recessive inheritance pattern has been described in individuals with this disorder, with a molecular etiology established in about three-fourths of cases.
Source: The American Journal of Human Genetics - December 3, 2015 Category: Genetics & Stem Cells Authors: Lindsay C. Burrage, Wu-Lin Charng, Mohammad K. Eldomery, Jason R. Willer, Erica E. Davis, Dorien Lugtenberg, Wenmiao Zhu, Magalie S. Leduc, Zeynep C. Akdemir, Mahshid Azamian, Gladys Zapata, Patricia P. Hernandez, Jeroen Schoots, Sonja A. de Munn Tags: Report Source Type: research