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Gynecologic Lesions Related to Gorlin Syndrome/Nevoid Basal Cell Carcinoma Syndrome
Abstract: Nevoid basal cell carcinoma syndrome, also known as Gorlin syndrome, is an autosomal dominant genetic disorder predisposing affected individuals to characteristic benign and malignant tumors involving the jaw (such as odontogenic keratocyst), skin, brain, ovaries, and heart. Additionally, skeletal malformations and other abnormalities may also be present. Ovarian fibromas are the common neoplasm in the gynecologic tract associated with Nevoid basal cell carcinoma syndrome. Nevoid basal cell carcinoma syndrome–associated ovarian fibromas are typically bilateral and multinodular, associated with calcifications, a...
Source: Pathology Case Reviews - August 31, 2016 Category: Pathology Tags: Case Reviews Source Type: research

Massive Transfusion Protocols: A Survey of Academic Medical Centers in the United States.
CONCLUSIONS: One-hundred percent of survey respondents had an MTP in place. Despite a lack of published guidelines regarding MTPs, the survey results demonstrated substantial uniformity in numbers of products and target transfusion ratios. PMID: 27749352 [PubMed - as supplied by publisher]
Source: Anesthesia and Analgesia - October 2, 2016 Category: Anesthesiology Authors: Treml AB, Gorlin JB, Dutton RP, Scavone BM Tags: Anesth Analg Source Type: research

An association between ABO group and HLA antibody detection.
CONCLUSION: Centers using the ELISA may have a higher rate of permanent deferral from plateletpheresis donation among group O female donors. Although the reasons for the higher rate of reactivity on Class I ELISA testing are unknown, this could result from test system characteristics or differences in group O donor antibody strength or specificity. PMID: 27807878 [PubMed - as supplied by publisher]
Source: Transfusion - November 2, 2016 Category: Hematology Authors: Dunbar NM, Yazer MH, Bravo MD, Kamel HT, Gorlin J, Norris PJ, Williamson PC, Vassallo RR, Biomedical Excellence for Safer Transfusion (BEST) Collaborative Tags: Transfusion Source Type: research

Temporal Stability of Multiple Response Systems to 7.5% Carbon Dioxide Challenge.
Abstract Self-reported anxiety, and potentially physiological response, to maintained inhalation of carbon dioxide (CO2) enriched air shows promise as a putative marker of panic reactivity and vulnerability. Temporal stability of response systems during low-dose, steady-state CO2 breathing challenge is lacking. Outcomes on multiple levels were measured two times, one week apart, in 93 individuals. Stability was highest during the CO2 breathing phase compared to pre-CO2 and recovery phases, with anxiety ratings, respiratory rate, skin conductance level, and heart rate demonstrating good to excellent temporal stabil...
Source: Biological Psychology - February 1, 2017 Category: Psychiatry & Psychology Authors: Roberson-Nay R, Gorlin EI, Beadel JR, Cash T, Vrana S, Teachman BA Tags: Biol Psychol Source Type: research

Teaching NeuroImages: Clinical and neuroimaging features in Gorlin-Goltz syndrome
An 18-year-old man presented with neuropsychomotor development delay since birth associated with multiple nevi and basal cell carcinomas (BCCs), which appeared in the third year of life (figure 1). Family history was unremarkable. Brain CT showed tentorium and falx cerebri calcification, associated with sphenoid hypoplasia (figure 2). Brain MRI disclosed a jaw odontogenic cyst (figure 2). Gorlin-Goltz syndrome (GGS) was diagnosed based on clinical and neuroimaging features.
Source: Neurology - February 12, 2017 Category: Neurology Authors: da Paz Oliveira, G., Soares, N. L. R., Araujo, R. L., Dutra, L. A., Pedroso, J. L., Barsottini, O. G. P. Tags: CT, MRI, Mental retardation, All Genetics, Other neurocutaneous disorders RESIDENT AND FELLOW SECTION Source Type: research

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome
; Orsetta Zuffardi
Source: European Journal of Human Genetics - February 14, 2017 Category: Genetics & Stem Cells Authors: 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 Source Type: research

The confusion continues: evolving nature of massive transfusion protocol practice may reflect lack of evidence to support a single solution that fits all.
PMID: 28425601 [PubMed - in process]
Source: Transfusion - April 22, 2017 Category: Hematology Authors: Gorlin JB, Peters J, Van Buren N, Murphy S, Richardson C Tags: Transfusion Source Type: research

Perioperative considerations for patients with sickle cell disease: a narrative review.
CONCLUSION: Effective management of SCD patients in the perioperative setting requires familiarity with the epidemiology, pathophysiology, clinical manifestations, and treatment of SCD. PMID: 28455727 [PubMed - as supplied by publisher]
Source: Canadian Journal of Anaesthesia - April 28, 2017 Category: Anesthesiology Authors: Khurmi N, Gorlin A, Misra L Tags: Can J Anaesth Source Type: research

Gorlin-Goltz syndrome: Case report and the importance of familiar tracking
Fundamentals: Gorlin-Goltz syndrome is a rare dominant autosomal genodermatosis, with high penetrance and variable expressivity.
Source: Journal of the American Academy of Dermatology - May 31, 2017 Category: Dermatology Source Type: research

A topographical map approach to representing treatment efficacy: a focus on positive psychology interventions.
Abstract A recent meta-analysis by Bolier et al. indicated that positive psychology interventions have overall small to moderate effects on well-being, but results were quite heterogeneous across intervention trials. Such meta-analytic research helps condense information on the efficacy of a broad psychosocial intervention by averaging across many effects; however, such global averages may provide limited navigational guidance for selecting among specific interventions. Here, we introduce a novel method for displaying qualitative and quantitative information on the efficacy of interventions using a topographical m...
Source: Cognitive Behaviour Therapy - July 31, 2017 Category: Psychiatry & Psychology Authors: Gorlin EI, Lee J, Otto MW Tags: Cogn Behav Ther Source Type: research

Unusual Neurological Presentation of Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome).
Authors: Pennisi M, Lanza G, Cantone M, Schepis C, Ferri R, Barone R, Bella R PMID: 28884983 [PubMed - as supplied by publisher]
Source: Journal of Clinical Neurology - September 10, 2017 Category: Neurology Tags: J Clin Neurol Source Type: research

Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment.
Authors: Witmanowski H, Szychta P, Błochowiak K, Jundziłł A, Czajkowski R PMID: 28951717 [PubMed]
Source: Advances in Dermatology and Allergology - September 29, 2017 Category: Dermatology Tags: Postepy Dermatol Alergol Source Type: research

Erythema Multiforme Caused by Treatment With Topical Imiquimod 5% in a Patient With Gorlin Syndrome.
PMID: 29173871 [PubMed - as supplied by publisher]
Source: Actas Dermo-Sifiliograficas - November 21, 2017 Category: Dermatology Authors: Peña-López S, Suárez-Magdalena O, Monteagudo B, Cabanillas M Tags: Actas Dermosifiliogr Source Type: research

GSE104499 Gorlin syndrome-derived induced pluripotent stem cells are hypersensitive to Hedgehog-mediated osteogenic induction
Contributors : Daigo Hasegawa ; Toshifumi AzumaSeries Type : Expression profiling by RT-PCROrganism : Homo sapiensGorlin syndrome is an autosomal dominant inherited syndrome that predisposes a patient to the formation of basal cell carcinomas, odontogenic keratocysts, and skeletal anomalies. Patched-1 (PTCH1) is a Hedgehog (Hh) receptor that acts as a negative regulator of constitutive Hh signaling by preventing the G protein-coupled receptor Smoothened from entering the cilium in the absence of Hh protein binding. We generated iPSCs from four unrelated Gorlin syndrome patients with loss-of-function mutations in PTCH1 usin...
Source: GEO: Gene Expression Omnibus - December 1, 2017 Category: Genetics & Stem Cells Tags: Expression profiling by RT-PCR Homo sapiens Source Type: research

Ceftriaxone-induced drug reaction mimicking acute splenic sequestration crisis in a child with hemoglobin SC disease.
CONCLUSION: We report a new presentation of ceftriaxone-induced drug reaction in a patient with SCD mimicking an acute splenic sequestration crisis. Review of the literature for cases of ceftriaxone-induced drug reactions in pediatric patients revealed nine previously reported cases of ceftriaxone-induced immune hemolytic anemia in children with SCD since 1995, but none with an initial presentation suggestive of acute splenic sequestration crisis. PMID: 29473172 [PubMed - as supplied by publisher]
Source: Transfusion - February 22, 2018 Category: Hematology Authors: Van Buren NL, Gorlin JB, Reed RC, Gottschall JL, Nelson SC Tags: Transfusion Source Type: research