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Unifying Unexplained Symptoms Through Genetic Testing: Triple X Syndrome and Uniparental Disomy 6
No full textIn children who present with multiple and seemingly unrelated symptoms, genetic testing may provide the missing link. This consideration is especially important when patients lack equitable access because testing facilitates comprehensive and proactive care. This study presents a case report of such a patient.
Triple X syndrome (47,XXX) is the most common female chromosomal abnormality but is clinically recognized in only about 10% of cases. Presentations vary widely, ranging from tall stature and developmental delay to behavioral, reproductive, and seizure disorders. Early identification through genetic testing allows anticipatory guidance, yet access remains uneven, particularly among immigrant populations.
A 13-year-old girl who recently immigrated from Ukraine presented to a primary care clinic in United States to establish care. Her history included neonatal diabetes, tall stature, developmental delay, and irregular menses, which have been addressed individually but not connected by an underlying diagnosis. Genetic testing revealed both Triple X syndrome and uniparental disomy of chromosome 6 (UPD6). This dual diagnosis provided a unifying framework for her complex medical profile, encompassing premature ovarian insufficiency, recurrent diabetes, and behavioral challenges.
Her case illustrates the value of genetic testing in clarifying overlapping conditions, enabling coordinated multidisciplinary management, and guiding long-term surveillance. The UPD6 diagnosis heightened the need for vigilant endocrine monitoring, while the Triple X diagnosis underscored risks for neurocognitive and gynecologic complications.
This case highlights the inequities of limited access to genetic testing. For patients from resource-limited settings, delayed diagnosis can lead to fragmented and reactive care. Expanding access ensures timely recognition, personalized management, and improved outcomes for children with rare and overlapping genetic conditions
Association of Cannabis Use and Psychosis Among Adolescents and Young Adults
No full textAs cannabis legalization expands, concerns have intensified regarding its accessibility to youth and its potential impact on mental health. This essay explores the link between early cannabis use in adolescents and young adults and the onset of psychosis, drawing from a comprehensive review of 15 peer-reviewed studies published within the past five years. These include epidemiological research, systematic reviews, and meta-analyses sourced from PubMed. Selected studies focused on human subjects and examined cannabis use patterns (eg, lifetime, frequency, high-potency) in relation to psychosis-related outcomes (eg, first-episode psychosis, schizophrenia spectrum disorders). Inclusion criteria required adolescent or young adult populations, validated diagnostic tools, and data on neurobiological mechanisms or risk factors such as genetic predisposition and environmental stressors. Findings indicate that individuals at elevated risk for psychosis who use cannabis are up to five times more likely to exhibit symptoms. Neurobiological evidence suggests that cannabis may disrupt dopamine regulation and brain maturation. Blest-Hopley et al. highlight adolescence as a critical neurodevelopmental window, during which cannabis use may alter dopamine and glutamate pathways implicated in psychosis. The review also contextualizes cannabis legalization within emerging psychosis research. While a strong association between cannabis use and psychosis is evident, causality remains multifactorial. Future research should emphasize longitudinal studies stratified by cannabis potency and individual risk factors. This essay advocates for enhanced public health education, preventive strategies, and policy reform to mitigate risks and support mental health in adolescents and young adults
Oral Contraceptive Use in Ovarian Cancer Prevention
No full textThe purpose of this review is to evaluate the efficacy of implementing oral contraceptive pills (OCPs) as a chemoprevention modality for those at risk for ovarian cancer. This clinical review examines its significance to clinical practice as an emerging prevention strategy and its potential effect on decreasing the burden of ovarian cancer in women. A comprehensive literature search of electronic databases was conducted, identifying studies with publication dates restricted to the past five years that assessed the epidemiologic statistics, proposed mechanisms of action, clinical applications, patient experience, public health implications, patient challenges, and limitations that are involved in long-term oral contraceptive pill use as a form of chemoprevention for ovarian cancer. The findings suggest that the long-term use of OCPs significantly reduces the incidence of ovarian cancer and also lowers the risk of ovarian cancer for those in the high-risk categories. However, there is a lack of recently published randomized controlled trials (RCTs) and prospective cohort studies that explore the relationship between OCPs, as opposed to various forms of hormonal contraception, and ovarian cancer. These are needed to better help answer whether OCP use independently influences ovarian cancer risk. This clinical review highlights the potential to have OCP use as a standard protocol to guide preventative strategies that are aimed at reducing ovarian cancer risk in women. The possibility that a widely available, relatively low-cost pill could play a role in lowering the incidence of a gynecologic cancer with such high mortality rates is both clinically and socially significant. By shifting the focus from treatment to prevention strategies, OCP use may represent an underutilized avenue that can be implemented in the efforts to not only reduce the disease burden associated with ovarian cancer but improve patient outcomes in the future as well. Exploring this pathway invites more profound conversations about the application of evidence-based practice within the sector of women\u27s health to effectively guide preventive medicine and restructure long-term cancer risk reduction strategies to improve patient outcomes on a worldwide scale
A Twisting Trail to Diagnosis: Unraveling Morvan’s Syndrome in CASPR2-Associated Autoimmune Encephalitis
No full textThis case snippet describes the diagnostic journey and clinical management of a 72-year-old gentleman who presented with progressive cognitive decline, involuntary myoclonus, and severe insomnia. Through a detailed clinical workup, including electromyography and antibody testing, he was diagnosed with Contactin-Associated Protein-Like 2 (CASPR2) antibody-associated autoimmune encephalitis manifesting as Morvan’s syndrome, a rare but reversible neuroimmunological disorder. Prompt initiation of immunotherapy led to gradual improvement, underscoring the value of clinical suspicion, multidisciplinary care, and early intervention. This case serves as a reminder to consider autoimmune etiologies in atypical neuropsychiatric presentations, especially in elderly patients
Leveraging Psychological Factors and GLP-1 Receptor Agonists for Effective Weight Management Beyond Diet and Exercise
No full textPsychostimulant Medications for the Treatment of Cocaine Use Disorder: A Clinical Review
No full textCocaine use disorder (CUD) continues to be a major clinical challenge. There are currently no FDA-approved medications for its treatment, leaving behavioral therapies – especially contingency management – as the gold standard. However, access and implementation barriers often leave patients without consistent care. Interest in psychostimulant medications has grown, with research exploring agents such as modafinil, extended-release amphetamines, and combination regimens like topiramate plus mixed amphetamine salts (MAS-ER). Results so far are mixed: some patients benefit, while others do not, and safety concerns remain. The 2024 ASAM/AAAP Clinical Practice Guideline cautiously supports specialist-supervised psychostimulant use in select cases. While not first-line, psychostimulants may serve as adjunctive options as evidence evolves. Larger, longer trials and integration with behavioral therapies are needed
To Pray or Not to Pray: Spiritual Activities Effect on Dementia
No full textThis clinical review explores the effectiveness of prayer and spiritual activity in treating dementia. Dementia, most commonly Alzheimer’s disease, impairs memory, cognition, mood, and daily functioning, with neuropsychiatric symptoms (NPS) such as depression, psychosis, and agitation affecting the majority of patients. With 10 million new cases each year worldwide, the growing prevalence poses major personal and economic challenges.
An extensive search of electronic databases identified journal articles examining the effects of spiritual or religious activities on outcomes related to dementia. Evidence suggests that participation in such practices is associated with fewer NPS. However, improvements may reflect the benefits of cognitive engagement more broadly rather than spiritual activity specifically.
Overall, these findings point to prayer and spiritual practices as promising, low-cost, non-pharmacological strategies for alleviating dementia-related symptoms, though further research is needed to clarify underlying mechanisms
