ABSTRACT
OBJECTIVE: To examine the effect of patient-selected opt-in versus opt-out option on the rate of reported variants of uncertain clinical significance (VOUS) and high-frequency low-penetrant (HFLP) findings in prenatal microarray testing. METHODS: A standard microarray consent form in Israel includes a requirement to note patient choice to be or not to be informed about the presence of VOUS and HFLP variants. The original form was designed as an opting-out method, in which the women had to actively mark if they did not want to be informed about questionable findings. In the authors' Genetic Institute, the form was changed for an opting-in option in October 2019. In this study we have compared the rates of reported VOUS and HFLP variants between the opt-in and opt-out periods. RESULTS: Of the 1014 prenatal CMA tests, 590 (58.2%) were performed in the opt-out period. A significant decrease in the rate of women requesting to be informed of VOUS findings was noted (66.8% in opt-out period vs 34.0% in opt-in period), yielding a relative risk (RR) of 0.46 (95% confidence interval [CI] 0.39-0.53). Rate of women preferring to be informed of HFLP variants decreased from 75.3% to 48.1% (RR 0.52, 95% CI 0.45-0.60). DISCUSSION: We present a simple and effective method to decrease the rate of reported findings of questionable significance in the prenatal setting. These results are important not only for microarray results, but also for next-generation sequencing techniques, such as whole exome or genome sequencing.
ABSTRACT
Background: Spontaneous spinal subarachnoid hemorrhage (SSH) is an infrequent yet critical condition, accounting for less than 1% of all spinal hemorrhages and presenting substantial diagnostic difficulties. It predominantly arises due to factors such as tumors, trauma, arteriovenous malformations (AVM), and certain medications including anticoagulants. The complexity of its presentation necessitates vigilance from healthcare providers to avert irreversible neurological impairments. Case Description: This study delineates the unusual case of an 82-year-old woman undergoing direct oral anticoagulant (DOAC) therapy who reported sudden, severe chest and back pain, rapidly escalating to lower limb motor and sensory deficits, coupled with urinary and fecal incontinence. An initial cranial computed tomography (CT) indicated a peri-mesencephalic subarachnoid hemorrhage (SAH). Subsequent spinal CT angiography (CTA) and magnetic resonance imaging (MRI) affirmed the diagnosis of a spontaneous SSH, displaying significant cord compression, particularly in the thoracic regions between the T6 and T9 vertebrae. Emergency laminectomy was done to evacuate the subarachnoid hematoma that was causing cord compression. Postoperatively, the patient recovered partial neurological function. Conclusions: SSH, though rare, embodies a significant diagnostic hurdle and potential for lasting neurological deficits if not identified and treated promptly. Particularly in patients on anticoagulant therapy presenting with acute onset back pain and neurological dysfunction, SSH ought to be a crucial consideration. It is imperative to integrate prompt and advanced neuroimaging techniques and consider spinal angiography as a golden standard for a comprehensive diagnosis. Treatment strategies depend largely on the presence of neurological deficits, emphasizing the necessity of quick identification and emergency intervention in severe cases. This study elucidates the critical role of timely intervention in optimizing recovery outcomes, highlighting the necessity of including anticoagulant-induced spinal hemorrhage in differential diagnoses for patients manifesting signs of acute spinal cord compression.
ABSTRACT
INTRODUCTION: Sexual health, an integral component of overall well-being, is frequently compromised by common yet underdiagnosed sexual dysfunctions. Traditional interventions encompass pharmaceutical and psychological treatments. Unconventional therapies, like MDMA, offer hope for sexual dysfunction. This review delves into MDMA's effects on sexual responsiveness and its potential role in treating sexual dysfunction. OBJECTIVES: The purpose of this review is to elucidate effects of MDMA on different domains of the female and male sexual response cycles. METHODS: We conducted a systematic review on the effects of MDMA on each domain of the female and male sexual response cycles. PubMed, MEDLINE, and EMBASE were queried, and results were screened using PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Search terms utilized were "MDMA" or "ecstasy" in combination with "desire," "arousal," "lubrication," "orgasm," "pleasure," "libido," "erection," and "ejaculation." Inclusion criteria for this review were MDMA use by study subjects and sexual outcomes in at least 1 domain of the female and/or male sexual response cycles were described and measured. Randomized controlled trials, cohort studies (both prospective and retrospective), surveys, and literature reviews published between January 2000 and June 2022 were included. Case reports and studies that did not address conditions of interest were excluded from analysis. Duplicated search results were screened out. The remaining studies were then read in full text to ensure they met inclusion and exclusion criteria for analysis. RESULTS: We identified 181 studies, of which 6 met criteria for assessment of the female sexual response cycle and 8 met criteria for assessment of the male sexual response cycle. Four of 6 studies reported increased sexual desire with MDMA use among women. Arousal and lubrication were improved with MDMA use in 3 of 4 studies, but they were not affected in 1 randomized control study. In men, 7 studies evaluated the effects of MDMA on desire and/or arousal, 5 studies measured impact on erection, 3 on orgasm, and 2 on ejaculation. Sixty percent of interview-based studies reported increased sexual desire in men, while 40% reported mixed or no effect. Two studies reported impairment of erection, 2 reported mixed effects, and 1 reported fear of erection impairment. In both men and women, all studies evaluating orgasm reported delay in achieving orgasm but increased intensity and pleasure if achieved. Primary outcome measures were variable and largely qualitative. CONCLUSION: Our findings suggest that MDMA generally increases sexual desire and intensifies orgasm when achieved. While producing conflicting evidence on sexual arousal in both sexes, MDMA may impair erectile and ejaculatory function in men.