Tourette disorder (TD) and other chronic tic disorders are neurodevelopmental/neuropsychiatric disorders characterized by motor and/or vocal tics. Family studies indicate that TD strongly aggregates within families and that other chronic tic disorders are biologically related such that studies typically combine them into any chronic tic disorder (CTD). Because of stigma, bullying, and comorbidity with other neuropsychiatric disorders, CTDs can severely impact the quality of life of individuals with these disorders. The genetic architecture of CTDs is complex and heterogeneous, involving a myriad of genetic variants. Thus, providing familial recurrence risks is based on empirical recurrence risk estimates rather than genetic testing. Because empiric recurrence risks for CTDs have not been published, the purpose of this study is to calculate and report these recurrence risks estimates. Based on population prevalence and increased risk to different relatives from a large population-based family study, we calculated the empiric recurrent risk estimate for each relative type (full sibling, parents, offspring, all first-degree, and all second-degree). The recurrence risk estimate for CTDs in first-degree relatives is 29.9% [95% confidence interval (CI) = 23.2-38.5%]. The risk is higher in males, 33.7% (95% CI = 26.2-43.3%), than females, 24.3% (95% CI = 18.9-31.3%). Given the complex, heterogeneous genetic architecture of CTDs, individuals concerned about recurrence risk should be referred to genetic counseling. Such counseling should include discussion of the derivation and limitations of these empiric recurrence risk estimates, including the upper and lower limits of the range of risk.
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http://dx.doi.org/10.3389/fneur.2020.00770 | DOI Listing |
Urogynecology (Phila)
October 2024
Atrium Wake Forest Baptist Health, Winston-Salem, NC.
Importance: Limited data exist comparing total laparoscopic hysterectomy (TLH) versus laparoscopic supracervical hysterectomy (LSCH) at the time of minimally invasive sacrocolpopexy for uterovaginal prolapse.
Objectives: The objective of this study was to compare TLH versus LSCH at the time of minimally invasive sacrocolpopexy for uterovaginal prolapse, hypothesizing that LSCH would demonstrate a higher proportion of recurrent prolapse, but a lower proportion of mesh exposures.
Study Design: This was a retrospective, secondary analysis comparing a prospective cohort of patients undergoing TLH sacrocolpopexy versus a retrospective cohort of patients who had undergone LSCH sacrocolpopexy.
JAMA Netw Open
January 2025
Ahmanson Translational Theranostics Division, Department of Molecular and Medical Pharmacology, David Geffen School of Medicine, University of California, Los Angeles.
Importance: The phase 3 randomized EMBARK trial evaluated enzalutamide with or without leuprolide in high-risk nonmetastatic hormone-sensitive prostate cancer. Eligibility relied on conventional imaging, which underdetects metastatic disease compared with prostate-specific membrane antigen-positron emission tomography (PSMA-PET).
Objective: To describe the staging information obtained by PSMA-PET/computed tomography (PSMA-PET/CT) in a patient cohort eligible for the EMBARK trial.
World J Urol
January 2025
Department of Urology, Erasmus University Medical Center, Erasmus MC Cancer Institute, Dr. Molewaterplein 40, Room Be-304, 3015 GD, Rotterdam, The Netherlands.
Purpose: Up to 50% of high-risk non-muscle invasive bladder cancer (HR-NMIBC) patients fail Bacillus Calmette-Guérin (BCG) treatment, resulting in a high risk of progression and poor clinical outcomes. Biomarkers that predict outcomes after BCG are lacking. The antitumor effects of BCG are driven by a cytotoxic T cell response, which may be controlled by immune checkpoint proteins like Programmed Death Ligand 1 (PD-L1).
View Article and Find Full Text PDFNeurol Sci
January 2025
Neuroradiology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Via Amendola 2, Reggio Emilia, 42122, Italy.
Introduction: Large artery atherosclerosis is a relevant cause of ischemic stroke. Beyond carotid artery stenosis ≥ 50%, causative in etiological classification of stroke, non-stenosing plaques are an increasingly reported cause of stroke with embolic pattern.
Methods: We are presenting the case of a 56 years old woman presenting with a first symptomatic multifocal ischemic stroke in the right internal carotid artery (ICA) territory on 2018 and a finding of asymptomatic past vascular injury in the same vascular territory on neuroimaging studies.
Hernia
January 2025
Division of Gastrointestinal and Minimally Invasive Surgery, Department of Surgery, Carolinas Medical Center, 1025 Morehead Medical Drive Suite 300, Charlotte, NC, 28204, USA.
Purpose: To present updated outcomes after previously describing a novel technique for the robotic repair of parastomal hernias.
Methods: Patients who underwent parastomal hernia repair with a robotic Sugarbaker technique at a tertiary hernia center were identified from an institutional database. The approach involves mesh placement in the intraperitoneal or preperitoneal position after closure of the fascial defect.
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