scholarly journals Low Prevalence of GSC Gene Mutations in a Large Cohort of Predominantly Caucasian Patients with Hidradenitis Suppurativa

2020 ◽  
Vol 140 (10) ◽  
pp. 2085-2088.e14 ◽  
Author(s):  
Sabine Duchatelet ◽  
Snaigune Miskinyte ◽  
Maia Delage ◽  
Marie-Noëlle Ungeheuer ◽  
Thi Lam ◽  
...  
Keyword(s):  
Hidradenitis Suppurativa ◽  
Gene Mutations ◽  
Large Cohort ◽  
Caucasian Patients ◽  
Low Prevalence

scholarly journals Low Prevalence of Pneumocystis pneumonia (PCP) but High Prevalence of Pneumocystis dihydropteroate synthase (dhps) Gene Mutations in HIV-Infected Persons in Uganda

PLoS ONE ◽  
2012 ◽  
Vol 7 (11) ◽  
pp. e49991 ◽  
Author(s):  
Steve M. Taylor ◽  
Steven R. Meshnick ◽  
William Worodria ◽  
Alfred Andama ◽  
Adithya Cattamanchi ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Pneumocystis Pneumonia ◽  
Dihydropteroate Synthase ◽  
High Prevalence ◽  
Dhps Gene ◽  
Low Prevalence

scholarly journals Aggrecanopathies highlight the need for genetic evaluation of ISS children

2020 ◽  
Vol 183 (2) ◽  
pp. C9-C10
Author(s):  
Ola Nilsson
Keyword(s):  
Short Stature ◽  
Osteochondritis Dissecans ◽  
Early Onset ◽  
Gene Mutations ◽  
Bone Age ◽  
Genetic Evaluation ◽  
Large Cohort ◽  
Growth Disorders ◽  
Common Causes ◽  
Work Up

Short stature is one of the most common causes for referrals to pediatric endocrinologists. However, in a majority of the children, no underlying cause can be identified and the child instead receives the unhelpful diagnosis of idiopathic short stature (ISS), often after extensive work-up and testing. Recent advances in genetic methodology have allowed for the identification of a number of different monogenic conditions within the large cohort of ISS children. Isolated short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (MIM#165800) due to heterozygous aggrecan gene mutations exemplifies how this progress is changing the way we assess, counsel and treat children with non-endocrine growth disorders.

scholarly journals Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations

2020 ◽  
Vol 11 ◽  
Author(s):  
Xiaoxuan Liu ◽  
Xiaohui Duan ◽  
Yingshuang Zhang ◽  
Aping Sun ◽  
Dongsheng Fan
Keyword(s):  
Gene Mutations ◽  
Cross Sectional Study ◽  
Large Cohort ◽  
Chinese Patients ◽  
Sectional Study ◽  
Cross Sectional

18445 Basal cell carcinoma gene mutations and polymorphisms differ between Asian, Hispanic, and Caucasian patients

2020 ◽  
Vol 83 (6) ◽  
pp. AB100
Author(s):  
Blake Hass ◽  
Shauna Higgins ◽  
Marissa Lobl ◽  
Dillon Clarey ◽  
Adam Vincent Sutton ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Gene Mutations ◽  
Caucasian Patients

Mutational status and thromboembolic risk in lung, gastrointestinal and breast cancer patients.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e23147-e23147
Author(s):  
Marco Platania ◽  
Federico Nichetti ◽  
Filippo G. De Braud
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Molecular Profile ◽  
Breast Cancer Patients ◽  
Vein Thrombosis ◽  
Mutational Status ◽  
Cancer Associated Thrombosis ◽  
Low Prevalence

e23147 Background: Cancer-Associated Thrombosis (CAT) is one of the most threatening complications of cancer. Recent evidences suggested a link between the molecular profile of solid tumors and the incidence of CAT. The aim of this study was to explore the relationship between the mutational status of breast, lung and gastrointestinal cancer patients and the risk of CAT. Methods: We retrospectively evaluated the molecular profile, analysed as per clinical practice, of all consecutive patients hospitalized at the National Cancer Institute’s Department in Milan from October 2017 to November 2018. Patients with previous thromboembolic events and patients under anticoagulant therapy at cancer diagnosis were excluded. Due to death as competing risk, the Fine and Gray proportional regression model was used to detect statistical association and estimate relative risk. Results: The resulting cohort consisted of 484 patients, of whom 47% had gastrointestinal cancers, 18% had lung cancer and 15% had breast cancer. Molecular investigations were available for 375 (77%) patients; in particular, a 50-gene Next Generation Sequencing (NGS) panel was performed on 148 (31%) patients. After a median follow up of 17 months, 118 patients (24%) exhibited clinical manifestations of thrombosis (i.e. deep vein thrombosis, pulmonary thromboembolism, splanchnic thrombosis, disseminated intravascular coagulation, arterial thrombosis) and 117 (24%) patients deceased without thrombotic events. A statistically significant association was observed between incidence of CAT and presence of TP53 (HR 0.50, p = 0.04), c-KIT (HR 4.30, p = 0.041), and SMAD4 (HR 3.19, p = 0.029) mutations. No significant association was detected for KRAS and MET gene mutations, even if HRs were >2. Conclusions: In this study, the mutational status of TP53, SMAD4 and c-KIT genes was statistically associated to the risk of thrombosis. Due to methodological limits and low prevalence of mutations, large prospective studies are warranted, with the aim of better defining the role of oncogenes in CAT risk.

scholarly journals Low rate of germline AIP mutations in patients with apparently sporadic pituitary adenomas before the age of 40: a single-centre adult cohort

2014 ◽  
Vol 171 (5) ◽  
pp. 659-666 ◽  
Author(s):  
Veronica Preda ◽  
Márta Korbonits ◽  
Simon Cudlip ◽  
Niki Karavitaki ◽  
Ashley B Grossman
Keyword(s):  
Pituitary Adenomas ◽  
Young Patients ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
University Hospital ◽  
Tertiary Referral Centre ◽  
Interacting Protein ◽  
Aryl Hydrocarbon ◽  
Genetic Testing Guidelines ◽  
Low Prevalence

AimTo study the prevalence of germline mutations of the aryl-hydrocarbon receptor interacting protein (AIP) gene in a large cohort of patients seen in the Oxford Centre for Diabetes Endocrinology and Metabolism (OCDEM), UK, with apparently sporadic pituitary adenomas, who were either diagnosed or had relevant clinical manifestations by the age of 40 years.PatientsWe prospectively investigated all patients who were seen at Oxford University Hospital, OCDEM, and a tertiary referral centre, between 2012 and 2013, and presented with pituitary tumours under the age of 40 years and with no family history: a total of 127 patients were enrolled in the study.MethodsLeukocyte-origin genomic DNA underwent sequence analysis of exons 1–6 and the flanking intronic regions of theAIPgene (NM_003977.2), with dosage analysis by multiplex ligation-dependent probe amplification.ResultsAIPvariants were detected in 3% of the 127 patients, comprising four of 48 patients with acromegaly (8%), 0 of 43 with prolactinomas, 0 of the 20 patients with non-functioning adenomas, 0 of 15 with corticotroph adenomas and 0 of one with a thyrotroph adenomas. Definite pathogenetic mutations were seen in 2/4 variants, comprising 4.2% of patients with acromegaly.ConclusionsThis prospective cohort study suggests a relatively low prevalence ofAIPgene mutations in young patients with apparently sporadic pituitary adenomas presenting to a tertiary pituitary UK centre. Those with somatotroph macroadenomas have a higher rate ofAIPmutation. These findings should inform discussion of genetic testing guidelines.

Sign in / Sign up

Export Citation Format

Share Document