Gorlin syndrome Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Cardiac Fibroma Presenting With Left Bundle Branch Block in an Adult With Gorlin Syndrome
Tex Heart Inst J. 2023 Jan 1;50(1):e207247. doi: 10.14503/THIJ-20-7247.NO ABSTRACTPMID:36763932 | DOI:10.14503/THIJ-20-7247 (Source: Texas Heart Institute Journal)
Source: Texas Heart Institute Journal - February 10, 2023 Category: Cardiology Authors: Kumar Jatti Ramya Dhandapani Vishal Sharma Balazs Ruzsics Source Type: research

Frameshift mutation in exon 17 of PTCH1 gene in Nevoid basal cell carcinoma syndrome: A case report
We present here a case of 14-year-old female patient who reported with a chief complaint of facial swelling for 3 weeks. The radiographs revealed multiple cysts in maxilla and mandible. Incisional biopsy of the lesions was done and the histopathologic features were suggestive of odontogenic keratocyst. Further investigations revealed the presence of falx cerebri calcifications and multiple nevi on palms and feet. Genetic study was done to confirm the diagnosis of NBCCS, which showed mutations in PTCH gene. This case stresses the importance of genetic study in suspected cases of NBCCS especially in young patients of nonsynd...
Source: Journal of Oral and Maxillofacial Pathology - February 4, 2023 Category: ENT & OMF Authors: Thara Aravind Vindhya Savithri Rakesh Suresh Pramod Subash Source Type: research

Calcifying odontogenic cyst associated with compound odontoma & #8211; A rare entity
BK Akshatha, GS Manjunath, N SoundaryaJournal of Oral and Maxillofacial Pathology 2023 27(5):69-74 Calcifying odontogenic cyst (COC) or Gorlin's cyst categorized as a distinct entity by Gorlin et al. in 1962. It is a rare benign developmental cystic lesion that accounts for less than 1% of all odontogenic cysts. It can occur in association with various types of odontogenic tumors such as odontomas. COC is a hybrid lesion of the jaw presenting a manifold variety of clinical behaviors and histopathological characteristics including cystic, solid (neoplastic), and aggressive forms. COC exhibits diversit...
Source: Journal of Oral and Maxillofacial Pathology - February 4, 2023 Category: ENT & OMF Authors: BK Akshatha GS Manjunath N Soundarya Source Type: research

Doppler Ultrasound Peak Systolic Velocity versus End Tidal Carbon Dioxide during Pulse Checks in Cardiac Arrest1
An accurate, non-invasive measure of return of spontaneous circulation (ROSC) is needed to improve management of cardiac arrest patients. (Source: Resuscitation)
Source: Resuscitation - January 13, 2023 Category: Emergency Medicine Authors: Ghania Haddad, Deanna Margius, Allison L. Cohen, Margaret Gorlin, Daniel Jafari, Timmy Li, Casey Owens, Lance Becker, Daniel M. Rolston Tags: Clinical paper Source Type: research

Demographics of first-time donors returning for donation during the pandemic: COVID-19 convalescent plasma vs standard blood product donors
Transfusion. 2022 Dec 22. doi: 10.1111/trf.17229. Online ahead of print.NO ABSTRACTPMID:36550639 | DOI:10.1111/trf.17229 (Source: Transfusion)
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

Demographics of first-time donors returning for donation during the pandemic: COVID-19 convalescent plasma vs 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 a non-CCP donor. Further study to improve first-time donor engagement would be worthwhile to expand the donor base with focus on blood donor diversity emphasizing engagement of underrepresented minority and younger donors.PMID:36550639 | DOI:10.1111/trf.17229 (Source: Transfusion)
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

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)
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

Clinical, radiographic, pathological and inherited characteristics of odontogenic keratocyst in nevoid basal cell carcinoma syndrome: a study in three Chilean families
ConclusionsPatients with NBCCS had single or multiple OKCs that were located more frequently in the mandibular area. One family had autosomal dominant inheritance and the other two families were de novo cases. None of the three teenage patients had basal cell carcinomas. (Source: Oral Radiology)
Source: Oral Radiology - November 27, 2022 Category: Radiology 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...
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)
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