Publications by authors named "Sarah Charles"

Groups have their health and well-being impacted by satisfying their members' needs and providing resources to help cope with threats. Multiple group memberships serve to accumulate these benefits and also provide resilience to the effects of group loss. However, the additional well-being benefits of belonging to multiple remain to be determined.

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Objective: To evaluate factors influencing the diagnostic yield of comprehensive gene panel testing (CGPT) for hearing loss (HL) in children and to understand the characteristics of undiagnosed probands.

Study Design: This was a retrospective cohort study of 474 probands with childhood-onset HL who underwent CGPT between 2016 and 2020 at a single center. Main outcomes and measures included the association between clinical variables and diagnostic yield and the genetic and clinical characteristics of undiagnosed probands.

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Religious rituals are associated with health benefits, potentially produced via social bonding. It is unknown whether secular rituals similarly increase social bonding. We conducted a field study with individuals who celebrate secular rituals at Sunday Assemblies and compared them with participants attending Christian rituals.

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The American National Institute for Mental Health (NIMH) has put out a set of research goals that include a long-term plan to identify more reliable endogenous explanations for a wide variety of mental health disorders (Insel, 2013). In response to this, we have identified a major symptom that underlies multiple mental health disorders - social bonding dysfunction. We suggest that endogenous opioid abnormalities can lead to altered social bonding, which is a symptom of various mental health disorders, including depression, schizophrenia and ASD.

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Objectives: To report our experience with ureteroscopic laser ablation of upper tract urothelial carcinoma (UTUC) in patients with Lynch Syndrome (LS), as defined by a documented germline mutation in the MSH-2 gene. To increase awareness among urologists about UTUC in this unique patient population and refer to genetic counselling when appropriate.

Patients And Methods: Demographic, clinical and pathological data on 13 consecutive patients with UTUC and documented MSH-2 mutation comprising 15 involved renal units were retrospectively collected.

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► Endometrial cancer with BRCA2 mutation and double heterozygosity for Lynch syndrome. ► Loss of MLH1 and PMS2 by immunohistochemical stain. ► MSH1 and MSH6 gene mutations by genomic sequencing.

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Recent preclinical data have demonstrated that pancreatic adenocarcinoma (PDA) cells with defects in the Fanconi anemia/BRCA2 pathway are hypersensitive to interstrand crosslinking agents. The challenge is to efficiently identify patients who will benefit from these therapies. Patients were chosen for this study by evaluating personal history, ethnic background and family history of pancreatic malignancy.

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Publication of original research, clinical experiences, and critical reviews of literature are vital to the growth of the genetic counseling field, delivery of genetic counseling services, and professional development of genetic counselors. Busy clinical schedules, lack of time and funding, and training that emphasizes clinical skills over research skills may make it difficult for new genetic counselors to turn their thesis projects into publications. This paper summarizes and elaborates upon a presentation aimed at de-mystifying the publishing process given at the 2008 National Society of Genetic Counselors Annual Education Conference.

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Objective: The objective of this study was to evaluate satisfaction with genetic counseling for BRCA1 and BRCA2 (BRCA1/2) mutations among African American women.

Methods: Participants were 54 African American women at moderate and high risk for BRCA1/2 mutations who were offered genetic testing as part of a randomized clinical trial designed to compare the effects of culturally tailored genetic counseling (CTGC) and standard genetic counseling (SGC). Satisfaction with genetic counseling was evaluated using a self-administered questionnaire following culturally tailored or standard pre-test education and counseling.

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