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Total 4438870 results found since Jan 2013.

Variations in hemoglobin measurement and eligibility criteria across blood donation services are associated with differing low-hemoglobin deferral rates: a BEST Collaborative study.
CONCLUSION: Differences in Hb measurement and eligibility criteria, particularly longer donation intervals and iron supplementation in women, are associated with variations in low-Hb deferral rates. These insights could help improve both blood donation service efficiency and donor care. PMID: 32034925 [PubMed - as supplied by publisher]
Source: Transfusion - February 7, 2020 Category: Hematology Authors: Zalpuri S, Romeijn B, Allara E, Goldman M, Kamel H, Gorlin J, Vassallo R, Grégoire Y, Goto N, Flanagan P, Speedy J, Buser A, Kutner JM, Magnussen K, Castrén J, Culler L, Sussmann H, Prinsze FJ, Belanger K, Compernolle V, Tiberghien P, Cardenas JM, Gandh Tags: Transfusion Source Type: research

Electrochemotherapy in Gorlin-Goltz syndrome: two case reports.
Authors: Miraglia E, Curatolo P, Iacovino C, Careri R, Calvieri S, Giustini S PMID: 32057218 [PubMed - as supplied by publisher]
Source: Giornale Italiano di Dermatologia e Venereologia - February 16, 2020 Category: Dermatology Tags: G Ital Dermatol Venereol Source Type: research

Efficacy and Safety of Sonidegib in Adult Patients with Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome): Results from a Phase 2, Double-Blind, Randomized Trial.
Authors: Lear JT, Hauschild A, Stockfleth E, Squittieri N, Basset-Seguin N, Dummer R PMID: 32104037 [PubMed]
Source: Clinical, Cosmetic and Investigational Dermatology - February 29, 2020 Category: Dermatology Tags: Clin Cosmet Investig Dermatol Source Type: research

Therapeutic Phlebotomy for Testosterone-Induced Polycythemia.
CONCLUSIONS: Our BC observed increased TP requests for patients on TRT from 2014 through 2016. Our findings suggest that individuals on TRT may be presenting to BCs as volunteer blood donors to avoid charges for TP. PMID: 32134468 [PubMed - as supplied by publisher]
Source: American Journal of Clinical Pathology - March 4, 2020 Category: Pathology Authors: Van Buren NL, Hove AJ, French TA, Gorlin JB Tags: Am J Clin Pathol Source Type: research

A case study of 10 patients administered HBOC-201 in high doses over a prolonged period: outcomes during severe anemia when transfusion is not an option.
CONCLUSIONS: Administration of HBOC-201 over an extended period is a feasible and safe oxygen bridge for severely anemic patients who cannot be transfused with RBC. PMID: 32358832 [PubMed - as supplied by publisher]
Source: Transfusion - April 30, 2020 Category: Hematology Authors: Zumberg M, Gorlin J, Griffiths EA, Schwartz G, Fletcher BS, Walsh K, Dao KH, Vansandt A, Lynn M, Shander A Tags: Transfusion Source Type: research

Anti-D selection for D assignment among pregnant women and blood donors: impact of the Crawford antigen.
PMID: 32472570 [PubMed - as supplied by publisher]
Source: Transfusion - May 28, 2020 Category: Hematology Authors: Anani WQ, Gorlin J, Denomme GA Tags: Transfusion Source Type: research

388 Natural history and management of basal cell nevus syndrome: Updates from the gorlin syndrome registry
Background: Patients with basal cell nevus syndrome (BCNS) are at increased risk of developing basal cell carcinomas (BCCs). Long-term data on tumor burden, co-morbidities, and management of BCNS is limited. Method: A prospective, cross-sectional study of self-reported questionnaire responses collected from BCNS patients from Feb 2012 to Oct 2016 through the national Gorlin Syndrome Registry. BCC burden was characterized based on frequency and anatomic distribution. Logistic regression analysis was performed to determine the association of BCC development with risk factors such as sex, family history, age of diagnosis/symp...
Source: Journal of Investigative Dermatology - June 17, 2020 Category: Dermatology Authors: V. Eng, G. Saldanha, S. Li, I. Bailey-Healy, J. Teng, J. Tang Tags: Patient Population Research Source Type: research

Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz–Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature
We report the case of a 51-year-old man presenting with congenital skin lesions, syndactyly, facial and thoracic asymmetry, inguinal and laryngeal papillomas, cryptorchidism, polythelia, and dental anomalies. Molecular genetic analysis confirmed the clinically suspected diagnosis of GGS by detecting a known pathogenic mutation in the PORCN gene, c.502G>A [p.(Gly168Arg)] in the mosaic state. Histopathological examinations of skin biopsies of affected individuals typically show focal dermal hypoplasia and fat herniation; despite numerous skin biopsies, these characteristics were not found in the patient involved. Instead, we...
Source: The American Journal of Dermatopathology - August 22, 2020 Category: Pathology Tags: Original Study Source Type: research

Working memory moderates the predictive influence of distress intolerance on health-related goal attainment.
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 - October 6, 2020 Category: Psychiatry & Psychology Authors: Fitzgerald HE, Gorlin EI, Otto MW Tags: Cogn Behav Ther Source Type: research

Gorlin-Goltz syndrome: clinical findings in a Italian population and review of the literature.
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 - October 9, 2020 Category: Dermatology Tags: G Ital Dermatol Venereol Source Type: research

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
European Journal of Human Genetics, Published online: 02 March 2021; doi:10.1038/s41431-021-00839-4MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
Source: European Journal of Human Genetics - March 2, 2021 Category: Genetics & Stem Cells Authors: Karen M. Knapp Danielle E. Jenkins Rosie Sullivan Frederike L. Harms Leonie von Elsner Charlotte W. Ockeloen Sonja de Munnik Ernie M. H. F. Bongers Jennie Murray Nicholas Pachter Jonas Denecke Kerstin Kutsche Louise S. Bicknell Source Type: research

Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG)
This report summarizes genotype-based recommendations for screening patients withPTCH1 andSUFU-related Gorlin syndrome, discussed during a workshop of the Host Genome Working Group of the European branch of the International Society of Pediatric Oncology (SIOPE HGWG) held in January 2020. In order to allow early detection of BCC, dermatologic examination should start at age 10 inPTCH1, and at age 20 inSUFU PV carriers. Odontogenic keratocyst screening, based on odontologic examination, should begin at age 2 with annual orthopantogram beginning around age 8 forPTCH1 PV carriers only. For medulloblastomas, repeated brain MRI...
Source: Familial Cancer - April 16, 2021 Category: Cancer & Oncology Source Type: research

PTCH2 is not a strong candidate gene for gorlin syndrome predisposition
AbstractA number of case/family reports have proposedPTCH2 as a putative Gorlin Syndrome (GS) gene, but evidence to support this is lacking. We assessed our cohort of 21PTCH1/SUFU negative GS families forPTCH2 variants and assessed current evidence from reported cases/families and population data. In ourPTCH1/SUFU variant negative GS cohort (25% of total), no pathogenic or likely pathogenicPTCH2 variants were identified. In addition, none of the previously publishedPTCH2 variants in GS families/cases could be considered pathogenic or likely pathogenic using current guidelines. The absence of clear pathogenic variants in GS...
Source: Familial Cancer - June 25, 2021 Category: Cancer & Oncology Source Type: research

26991 A decade to diagnose, a lifetime to treat: The time burden associated with basal cell carcinoma in patients with Gorlin syndrome
Gorlin syndrome (GS) is a rare autosomal dominant disorder that can affect every organ system. Patients have lifelong risk of multiple basal cell carcinomas (BCCs) appearing as early as the first decade. Physical and emotional burdens of current treatments, such as surgical excision, Mohs surgery, topicals, and oral agents, over a person ’s lifetime, are tremendous and include time lost from work, school, social, and athletic activities. The burden of time required for treatments is one of issues examined in a 58-question survey administered by the GS advocacy communities (US and UK), which had 246 respondents.
Source: Journal of the American Academy of Dermatology - August 8, 2021 Category: Dermatology Authors: Julie Breneiser, Alix Alderman, Srikanth Pendyala, S øren Holm Source Type: research

Gorlin-Goltz Syndrome: Case Report and Review
Authors: Tahir Ahmad [1], Parveen Akhter Lone [2], Javaid Ahmed Wani [1], Nusrat Rafi [3] Affiliations: [1] Department of Oral and Maxillo Facial Surgey, Indra Gandi Government Dental College, Jammu and Kashmir  [2] Professor and Head, Department of Oral and … The post Gorlin-Goltz Syndrome: Case Report and Review appeared first on JPMS.
Source: Journal of Pakistan Medical Students - January 10, 2021 Category: Universities & Medical Training Source Type: research