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Total 794 results found since Jan 2013.
Demographics of first-time donors returning for donation during the pandemic: COVID-19 convalescent plasma versus standard blood product donors
CONCLUSION: The findings demonstrate differences in returning donor trends between the two donor cohorts. The motivation of a first-time CCP donor may be different than that of a non-CCP donor. Further study to improve first-time donor engagement would be worthwhile to expand the donor base with a focus on blood donor diversity emphasizing engagement of underrepresented minorities and younger donors.PMID:36550639 | DOI:10.1111/trf.17229
Source: Transfusion - December 23, 2022 Category: Hematology Authors: Nancy L Van Buren Srijana Rajbhandary Vanessa Reynolds Jed B Gorlin Susan L Stramer Edward P Notari Galen Conti Louis Katz James R Stubbs Camille M van Buskirk Kip Kuttner Debra L Smith Samantha G Ngamsuntikul Suchitra Pandey Dawn C Ward Alyssa Ziman Matt Source Type: research
483 PTCH1 inactivation is sufficient to cause basaloid follicular hamartoma in pediatric Nevoid basal cell carcinoma syndrome
Nevoid basal cell carcinoma syndrome (NBCS, Gorlin syndrome) is a rare autosomal-dominant entity and the most common hereditary form of basal cell cancer (BCC). Aberrant activation of Sonic hedgehog pathway underlies BCC onset, and germline mutations of its components, mostly tumor suppressor PTCH1, are causing NBCS. Basaloid lesions from pediatric patients with NBCS differ from adult BCCs, both clinically and histologically. Here, we report results of a whole exome sequencing of 15 basaloid lesions from three unrelated pediatric patients with NBCS, which correspond to basaloid follicular hamartomas (BFH).
Source: Journal of Investigative Dermatology - November 18, 2022 Category: Dermatology Authors: G. Blanchard, A. Yurchenko, O. Pop, L. Weibel, M. Theiler, S. Fraitag, E. Guenova, L. Flatz, S. Nikolaev, D. Hohl Source Type: research
A 10-year follow-up on the chemopreventive role of photodynamic therapy in a Gorlin syndrome patient
Australas J Dermatol. 2022 Oct 12. doi: 10.1111/ajd.13934. Online ahead of print.NO ABSTRACTPMID:36222440 | DOI:10.1111/ajd.13934
Source: The Australasian Journal of Dermatology - October 12, 2022 Category: Dermatology Authors: Anthony Thompson Alexzandra Mattia William Harris Green Armand B Cognetta Source Type: research
Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review
ConclusionGorlin-Goltz syndrome-associated congenital medulloblastoma with SUFU germline mutation is very rare. Pathological types mostly involve desmoplastic/nodular or extensive nodularity; chemotherapy is the main treatment, and studies revealing prognostic data are scarce.
Source: Frontiers in Oncology - October 12, 2022 Category: Cancer & Oncology Source Type: research
Nervous system (NS) Tumors in Cancer Predisposition Syndromes
AbstractGenetic syndromes which develop one or more nervous system (NS) tumors as one of the manifestations can be grouped under the umbrella term of NS tumor predisposition syndromes. Understanding the underlying pathological pathways at the molecular level has led us to many radical discoveries, in understanding the mechanisms of tumorigenesis, tumor progression, interactions with the tumor microenvironment, and development of targeted therapies. Currently, at least 7 –10% of all pediatric cancers are now recognized to occur in the setting of genetic predisposition to cancer or cancer predisposition syndromes. Specific...
Source: Neurotherapeutics - September 2, 2022 Category: Neurology Source Type: research
Surprising genetic and pathological findings in a patient with giant bilateral periadrenal tumours: PEComas and mutations of PTCH1 in Gorlin-Goltz syndrome
Gorlin-Goltz syndrome (GGS) or nevoid basal cell carcinoma syndrome is a rare tumour-overgrowth syndrome associated with multiple developmental anomalies and a wide variety of tumours. Here, we describe a case of a man aged 23 years with GGS with bilateral giant tumours adjacent to both adrenals that raised the suspicion of malignancy on imaging. Histological analysis of both surgically resected tumours revealed perivascular epitheloid cell tumours (PEComas) that were independent of the adrenals. Exome sequencing of the patient’s blood sample revealed a novel germline heterozygous frameshift mutation in the PTCH1 gen...
Source: Journal of Medical Genetics - August 19, 2022 Category: Genetics & Stem Cells Authors: Igaz, P., Toth, G., Nagy, P., Dezso, K., Turai, P. I., Medvecz, M., Wikonkal, N., Huszty, G., Piros, L., Toth, E., Bozsik, A., Liko, I., Patocs, A., Butz, H. Tags: Cancer genetics Source Type: research
Gorlin-goltz syndrome in adolescents —case report
A 14-year-old dark-skinned female patient sought dental care for the presence of secretion in the right posterior maxilla. Panoramic x-ray showed well-defined radiolucent lesions at the posterior region of the 4 quadrants, with displacement of the respective included teeth and absence of expansion of the cortical bone. Tomography, incisional biopsy, and installation of a cannula for cystic decompression were requested. In the aspiration puncture, a whitish-colored material was found. Biopsies confirmed the diagnosis of odontogenic keratocyst.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Rachel Alvarenga Brant, Maynara Lemos Abreu Silva, Felipe Eduardo Baires Campos, Wagner Henriques Castro, Ricardo Santiago Gomez Source Type: research
Sella turcica bridging in patients with gorlin-goltz syndrome and its implications
Patients with Gorlin-Goltz syndrome, also called nevoid basal cell carcinoma syndrome (NBCCS), can present sella turcica bridging (STB), which has been associated with the development of dental and cervical vertebral anomalies. In our clinical cases series, we analyzed skull and cervical spine x-rays of 7 patients with NBCCS and STB. Three patients had STB associated with dental (agenesis, tooth impaction, hyperdontia, diastemata, microdontia, gyroversion, and supernumerary teeth) and cervical (rudimentary cervical discs and ossification of the nuchal ligament) anomalies, 3 had STB associated with dental alterations (tooth...
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Jos é Henrique Dias, Amanda Schmidt, Bruna Da Fonseca Wastner, Jussara Maria Gonçalves, Laurindo Moacir Sassi, Mara Albonei Dudeque Pianovski, José Claudio Casali-Da-Rocha Source Type: research
Immunohistochemical analysis of cxcl12 and cxcr4 in syndromic and nonsyndromic odontogenic keratocysts
To evaluate the immunoexpression of chemokine CXCL12 and C-X-C chemokine receptor type 4 (CXCR4) in odontogenic keratocysts associated with Gorlin-Goltz syndrome (SOKCs) and nonsyndromic odontogenic keratocysts (NSOKCs).
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Amanda Lira Rufino De Lucena, Wliana Pontes De Lima, Allany De Oliveira Andrade, Roberta Barroso Cavalcante, Pollianna Muniz Alves, Cassiano Francisco Weege Nonaka, Manuel Antonio Gord ón-Núñez Source Type: research
Multiples odontogenic keratocyst in two children (brother and sister): case report
The aim of these study was to describe a clinical case of a brother, 13 years old, and sister, 11 years old, who reported purulent drainage in the posterior region of the mandible. Imaging exams showed multiples radiolucent lesions, bilateral, with well-defined limits, located at the anterior region, body, angle of the mandible, and posterior region of the maxilla. Many included teeth were seen in the imaging exams. The diagnostic hypotheses were odontogenic keratocyst related to Gorlin-Goltz syndrome.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Jo ão Francisco Barbosa Cordeiro, Ana Carolina Slaviero, Afonso José Sorgatto Lorenzetti, Aline Alves Luciano, Acir José Dirschnabel, Geórgia Ribeiro Martini, Grasieli De Oliveira Ramos Source Type: research
