Clinical and Medical Case Reports

Rare diseases, by definition, are conditions that affect a small percentage of the population. Yet, the cumulative impact of these conditions on individuals and healthcare systems is profound. Despite advancements in medicine, patients with rare diseases often encounter significant barriers in obtaining timely and effective care. Conversely, certain facilitators can help bridge these gaps and improve their healthcare experiences. This essay explores the dual themes of “Finally” and “Lack,” examining the facilitators that provide moments of breakthrough and hope, as well as the persistent obstacles that hinder progress in rare disease medical care. One of the most significant challenges in rare disease care is the diagnostic odyssey. For many patients, the journey to a diagnosis spans years, involving countless medical visits, tests, and misdiagnoses. In this context, “Finally” represents the profound relief and validation experienced when a diagnosis is made. Patients often describe this moment as a turning point, where the uncertainty and doubt of their symptoms are replaced by clarity.

Hemoadsorption in viscerocutaneous loxoscelism-related multiorgan failure represents a critical area of exploration within modern medicine. Viscerocutaneous loxoscelism, a severe complication of envenomation by Loxosceles spiders (commonly known as recluse spiders), is characterized by systemic inflammation and tissue necrosis that can progress to multiorgan failure. While supportive care remains the mainstay of treatment, hemoadsorption has emerged as a promising therapeutic modality. This essay examines the pathophysiology of viscerocutaneous loxoscelism, the role of hemoadsorption, and its potential to mitigate the progression of multiorgan fail. Loxoscelism results from the bite of Loxosceles spiders, which inject complex venom containing various proteins and enzymes. Among these, sphingomyelinase D is considered the most critical, as it induces dermonecrosis, platelet aggregation, and systemic inflammatory responses. In viscerocutaneous loxoscelism, venom-induced tissue destruction extends beyond the cutaneous site, causing systemic manifestations such as hemolysis, disseminated intravascular coagulation (DIC), and acute kidney injury (AKI). The inflammatory cascade triggered by the venom can lead to a cytokine storm, exacerbating organ dysfunction and increasing mortality risk.

Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder that poses significant challenges to patients’ quality of life (QoL), particularly in rural and mountainous regions where access to healthcare services is limited. In Greece, the geographical and infrastructural barriers of mountainous areas exacerbate these challenges, creating a unique set of circumstances for T2DM management. This essay explores the impact of T2DM on patients’ QoL in mountainous Greece, with a focus on access to primary health services, the role of healthcare infrastructure, and potential strategies for improving outcomes. Living with T2DM affects multiple dimensions of a patient’s QoL, including physical, psychological, and social well-being. Physically, the disease’s complications—such as neuropathy, retinopathy, and cardiovascular issues—impose limitations on mobility and daily activities. Patients in mountainous regions face additional challenges due to the physical demands of their environment, such as steep terrains and harsh weather conditions, which can exacerbate mobility issues and reduce adherence to physical activity recommendations.

Smoking during pregnancy remains a significant public health concern worldwide, including in Northern Greece. The practice is associated with a multitude of adverse outcomes for both mothers and their babies, including low birth weight, preterm birth, placental complications, and long-term developmental issues for the child. Despite well-documented risks and public health campaigns aimed at reducing maternal smoking rates, the prevalence of smoking during pregnancy remains high in certain regions, such as Northern Greece. Contributing factors include high overall smoking prevalence among women in Greece, cultural normalization of smoking, and limited access to smoking cessation resources tailored to pregnant women. Social determinants play a significant role in shaping smoking behaviors during pregnancy. Women from lower socioeconomic backgrounds, those with lower educational attainment, and those experiencing financial or psychological stress are more likely to smoke during pregnancy. Additionally, a lack of strong public health policies and enforcement related to smoking cessation contributes to the persistence of this behavior

Oral health plays a pivotal role in overall well-being, particularly for individuals managing chronic conditions such as type 2 diabetes mellitus (T2DM). The interconnected relationship between diabetes and oral health has been widely documented, with evidence suggesting that poor oral health can exacerbate glycemic control and vice versa. A recent Romanian study explored this intricate relationship, focusing on how oral health impacts the quality of life in patients with type 2 diabetes. This essay delves into the key findings of the study, highlighting the implications for patients, healthcare providers, and policymakers. Type 2 diabetes is characterized by chronic hyperglycemia, which contributes to systemic inflammation and impaired immune function. These physiological changes make individuals with T2DM more susceptible to oral health conditions such as periodontal disease, dental caries, and xerostomia (dry mouth). Conversely, oral infections and inflammation can worsen glycemic control, creating a bidirectional relationship that complicates diabetes management. The Romanian study underscores this interplay, emphasizing the need for integrated healthcare approaches that address both diabetes and oral health

Adolescent and young adult obesity has long-term effects on metabolic and physical health, making it a rising worldwide health concern. One common type of bariatric surgery that has shown promise in helping people with extreme obesity lose weight significantly and sustainably is sleeve gastrectomy. The procedure's effects on calcium metabolism and bone composition, however, still require further research. Since changes in bone health can raise the risk of fractures and long-term skeletal disorders, it is crucial to comprehend these impacts. The processes, clinical results, and prospective mitigation methods for side effects are highlighted in this essay's systematic assessment of the body of research on the changes in bone structure and calcium metabolism in obese adolescents and young adults having sleeve gastrectomy

In addition to being a chronic illness, HIV (Human Immunodeficiency Virus) poses a significant psychological risk, especially for young people. HIVrelated mental health issues are still not well understood or well handled in Indonesia, where the disease's incidence among youth has been gradually increasing. A distinct mix of psychological, social, and environmental stresses are faced by adolescents living with HIV (ALHIV), which are frequently made worse by societal stigma and restricted access to mental health services. This essay examines the mental health problems linked to HIV among Indonesian teenagers, pinpoints the variables affecting their mental health, and offers solutions to raise their standard of living. There are close connections between HIV and mental health. Teens who are HIV positive may struggle with a variety of mental health conditions, such as anxiety, sadness, PTSD, and loneliness. These young people face substantial psychological burdens due to the chronic nature of HIV, the requirements of adhering to antiretroviral medication (ART), difficulties with disclosure, and fear of stigma. In Indonesia, a lack of resources and awareness exacerbates mental health issues among people living with HIV

Mental health is an essential aspect of well-being that influences every individual’s ability to live a fulfilling life. Mental health disorders, including depression, anxiety, and post-traumatic stress disorder (PTSD), have become a global concern due to their high prevalence, debilitating effects, and the strain they place on healthcare systems. Despite the development of pharmaceutical treatments, many individuals continue to seek alternative therapies due to side effects or a lack of efficacy with traditional methods. One of the emerging non-pharmacological interventions in mental health care is the use of auditory stimuli, particularly frequency-modulated sound or music. This approach holds promise for improving mental health outcomes in individuals by harnessing the brain’s responsiveness to sound frequencies and their potential therapeutic benefits. This paper discusses a controlled and randomized clinical trial designed to assess the efficacy of a frequencymodulated auditory intervention in addressing mental health conditions. These alterations in sound frequencies have been shown to influence brainwave patterns, which are crucial for regulating mental states and behaviors. Different frequencies are associated with various brainwave patterns, such as alpha, beta, delta, and theta waves, which correlate with states of relaxation, focus, sleep, and deep meditation

The rapid advancement of Artificial Intelligence (AI) technologies presents significant opportunities for improving the mobility and functional independence of elderly populations. As the global population ages, addressing mobility challenges and maintaining functional capabilities are critical to enhancing quality of life and reducing the burden on healthcare systems. This essay outlines the development of an evidence and gap map for creating a protocol to evaluate AI-powered tools aimed at improving mobility and function in elderly people. Functional limitations often exacerbate these issues, as they hinder the ability to perform Activities of Daily Living (ADLs) such as dressing, cooking, and personal hygiene