Gorlin –Goltz Syndrome: An Incidental Finding of a Rare Entity
AbstractGorlin –Goltz syndrome (GGS) is a rare hereditary disease characterized by multiple basal cell carcinomas, odontogenic keratocyst (OKCs) and musculoskeletal malformations. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3–q31) and mutations in the human patched gene (PTCH1 gene). Here, we report a rare case of an incidental finding of GGS in an 18-year-old male patient presenting multiple OKCs, calcification of the falx cerebri, and bifid rib. (Source: Indian Journal of Otolaryngology and Head and Neck Surgery)
Source: Indian Journal of Otolaryngology and Head and Neck Surgery - October 15, 2023 Category: ENT & OMF Source Type: research
Case Report: Papillary thyroid carcinoma in Goltz –Gorlin syndrome
Goltz–Gorlin syndrome (GGS), also known as focal dermal hypoplasia, is a rare X-linked disorder caused by pathogenic variants in the PORCN gene and characterized by several abnormalities, including skin and limb defects, papillomas in multiple organs, ocular malformations, and mild facial dysmorphism. To date, only approximately 300 cases have been described in the literature. A 16-year-old female patient, born with multiple congenital dysmorphisms consistent with GGS and confirmed by genetic exam, was referred to our outpatient clinic for the workup of a thyroid nodule. A thyroid ultrasound showed a bilateral nodular di...
Source: Frontiers in Endocrinology - October 4, 2023 Category: Endocrinology Source Type: research
A regional red cell antibody registry improves patient safety but is underutilized
Transfusion. 2023 Sep;63(9):1778-1781. doi: 10.1111/trf.17504.NO ABSTRACTPMID:37700518 | DOI:10.1111/trf.17504 (Source: Transfusion)
Source: Transfusion - September 13, 2023 Category: Hematology Authors: Daniel S Jones Gina Folk Jack Wilson Zachary Hausner Julie Kirkegaard Alexandra Jimenez Jed B Gorlin Patricia A Shi Source Type: research
Genes, Vol. 14, Pages 1745: Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature
We describe a newborn born with wide-spaced eyes, a very broad nose, and two separate mouths. Workup revealed the absence of the corpus callosum and the presence of a brain midline lipoma, wide sutures, and a Chiari I malformation with cerebellar herniation. We conducted a systematic review of the literature and compared all the cases described as diprosopus. In 96% of these, the central nervous system is affected, with anencephaly being the most commonly associated abnormality. Other associated anomalies include cardiac malformations (86%), cleft palate (63%), diaphragmatic hernia (13%), and disorder of sex development (D...
Source: Genes - August 31, 2023 Category: Genetics & Stem Cells Authors: Viola Trevisani Eleonora Balestri Manuela Napoli Stefano Giuseppe Caraffi Maria Chiara Baroni Francesca Peluso Anna Colonna Lorenzo Iughetti Giancarlo Gargano Andrea Superti-Furga Livia Garavelli Tags: Article Source Type: research
DONSON facilitates Cdc45 and GINS chromatin association and is essential for DNA replication initiation
Nucleic Acids Res. 2023 Aug 28:gkad694. doi: 10.1093/nar/gkad694. Online ahead of print.ABSTRACTFaithful cell division is the basis for the propagation of life and DNA replication must be precisely regulated. DNA replication stress is a prominent endogenous source of genome instability that not only leads to ageing, but also neuropathology and cancer development in humans. Specifically, the issues of how vertebrate cells select and activate origins of replication are of importance as, for example, insufficient origin firing leads to genomic instability and mutations in replication initiation factors lead to the rare human ...
Source: Cell Research - August 28, 2023 Category: Cytology Authors: Georgia Kingsley Aggeliki Skagia Paolo Passaretti Cyntia Fernandez-Cuesta Alicja Reynolds-Winczura Kinga Koscielniak Agnieszka Gambus Source Type: research
Incidence and Prevalence of 73 Different Genodermatoses: A Nationwide Study in Sweden
This study provides a valuable resource for the epidemiology of genodermatoses by reporting on the incidence and prevalence of 73 different genodermatoses.PMID:37615526 | DOI:10.2340/actadv.v103.12404 (Source: Acta Dermato-Venereologica)
Source: Acta Dermato-Venereologica - August 24, 2023 Category: Dermatology Authors: Theofanis Zagoras Rahime Inci Despoina Kantere Peter Holmstr öm Jenny Brostr öm Martin Gillstedt Sam Polesie Sirkku Peltonen Source Type: research
Incidence and Prevalence of 73 Different Genodermatoses: A Nationwide Study in Sweden
This study provides a valuable resource for the epidemiology of genodermatoses by reporting on the incidence and prevalence of 73 different genodermatoses.PMID:37615526 | DOI:10.2340/actadv.v103.12404 (Source: Acta Derm Venereol A...)
Source: Acta Derm Venereol A... - August 24, 2023 Category: Dermatology Authors: Theofanis Zagoras Rahime Inci Despoina Kantere Peter Holmstr öm Jenny Brostr öm Martin Gillstedt Sam Polesie Sirkku Peltonen Source Type: research
LB1763 Combinatorial BRD9 and SMO targeting synergistically suppress UV-induced BCC tumor burden in a murine model of Gorlin syndrome (GS)
Hedgehog (Hh)-targeted drugs drive tumor regression in GS patients. The efficacy of Hh inhibitors (HHi) is limited by tumor resistance/regrowth following drug discontinuation supporting the need to search for novel druggable treatment pathways. Bromodomain-containing protein 9 (BRD9) is a component of non-canonical BAF of SWI/SNF chromatin remodeling complexes. Protein kinase B/AKT enhances cell survival and drives BCC growth. Using murine ASZ001 BCC cells and Ptch1+/-/SKH1 mice, we show persistent elevation of BRD9 and AKT activity in HHi-resistant BCC cells and in tumor allografts. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - August 21, 2023 Category: Dermatology Authors: A. Kim, Y. Zhu, D. Chen, M. Elmais, M. Athar, D.R. Bickers Source Type: research
