Background: Butane is a highly lipophilic aliphatic hydrocarbon widely used as a domestic fuel and aerosol propellant. Acute exposure in enclosed environments may cause severe neurological and cardiovascular toxicity through oxygen displacement, respiratory depression, myocardial sensitisation to catecholamines, and potentially direct toxic effects. Case Presentation: A 45-year-old woman was found unconscious in a small, closed studio apartment, while her husband was found deceased in the same environment. Subsequent inspection by the judicial authorities identified deterioration of the gas tubing associated with a gas leak. The patient presented in deep coma (Glasgow Coma Scale score 5) and required tracheal intubation and mechanical ventilation. Initial carboxyhaemoglobin was 16.9% and progressively normalised during oxygen therapy. Brain imaging demonstrated extensive cortical, deep grey matter, brainstem, cerebellar, and white-matter abnormalities consistent with severe hypoxic-ischaemic injury. Cardiac evaluation showed mild ST-segment elevation, increased cardiac biomarkers, and severe transient Left Ventricular Systolic Dysfunction (LVEF 25%) with a pattern highly suggestive of Takotsubo cardiomyopathy; LVEF subsequently improved to 44%. Severe neurological impairment persisted, and the patient was transferred to neurological rehabilitation. She died approximately six months after the index event; reliable documentation of the precise cause of death was unavailable. Conclusion: This case illustrates the severe neurological and cardiovascular consequences that may follow accidental butane exposure in an enclosed environment. The coexistence of extensive hypoxic- ischaemic brain injury and transient stress-related ventricular dysfunction highlights the importance of integrated neurological, cardiological, and toxicological assessment.
Abstract: Renal cell carcinoma (RCC) is the most common renal malignancy in adults. Owing to its high incidence, asymptomatic presentation, late diagnosis, and resistance to conventional therapies, it is associated with significant morbidity and mortality. However, current clinical trials focus more on identifying suitable molecular biomarkers and evaluating new treatments, such as targeted agents and immunotherapy. This review highlights novel biomarkers and recent clinical trials for the therapeutic management of patients with RCC. A comprehensive literature review was conducted using databases such as Web of Science, MEDLINE, Scopus, PubMed, and ClinicalTrials.gov (https://clinicaltrials.gov/) on novel biomarkers and various clinical trials for RCC. Recent clinical trials have shown a significant increase in biomarker discovery, including DNA methylation, microRNAs, long non-coding RNAs, and protein-based markers, which influence diagnosis, prognosis, and treatment. The treatment of RCC has progressed from cytokine-based immunotherapy to targeted therapies, such as mTOR and VEGF inhibitors, immune checkpoint inhibitors, and combination regimens, which have greatly improved patient outcomes. Emerging approaches, including novel immunological targets, adoptive cell therapies, vaccines, and oncolytic virotherapy, hold promise for overcoming resistance and boosting efficacy, and are currently being investigated in clinical trials. Despite these developments, intratumoral heterogeneity, lack of prognostic biomarkers, disparities in clinical trials, and treatment resistance are major limitations. Ongoing research and clinical trials focused on biomarker-driven precision medicine and combination approaches are expected to improve RCC management significantly. Validation through large multicenter trials will be necessary to enable the use of biomarkers for precision medicine in routine practice.
Abstract: Huntington's Disease (HD) is a rare autosomal dominant neurodegenerative disorder characterized by progressive motor dysfunction, psychiatric disturbances, and cognitive decline. An expanded CAG trinucleotide repeat in the Huntingtin (HTT) gene causes it to repeat, leading to the production of mutant Huntingtin Protein (mHTT), which drives selective neuronal degeneration, particularly in the striatum and cortex. Despite the identification of its genetic basis over three decades ago, HD remains incurable, with current therapies largely limited to symptomatic management. This review provides a comprehensive overview of emerging pharmacological strategies targeting the underlying molecular and cellular mechanisms of HD, with emphasis on translational insights from recent and ongoing clinical trials. Key pathogenic processes, including protein aggregation, transcriptional dysregulation, impaired proteostasis, mitochondrial dysfunction, synaptic deficits, and chronic neuroinflammation, are discussed to contextualize therapeutic approaches. Genetargeting strategies, including Antisense Oligonucleotides (ASOs), RNA interference (RNAi), and small-molecule splicing modulators, have demonstrated effective suppression of mutant huntingtin expression and favorable biomarker responses. However, despite robust target engagement, these molecular effects have not consistently translated into sustained clinical benefit, highlighting the complexity of achieving disease modification in Huntington's disease. Similarly, therapies targeting neuroinflammation, autophagy, mitochondrial dysfunction, and synaptic signaling have shown encouraging preclinical efficacy but only limited clinical success. The review highlights the critical role of biomarkers, including cerebrospinal fluid mHTT, neurofilament light chain, and imaging markers, in evaluating therapeutic efficacy, while underscoring the uncertainty in their correlation with long-term clinical outcomes. Persistent challenges in clinical translation emphasize the need for precision-based, stage-specific therapeutic strategies to achieve meaningful disease modification. Unlike previous reviews, this article critically integrates recent clinical trial outcomes with translational challenges, biomarker validation, regulatory perspectives, and future precision-medicine strategies, providing a comprehensive overview of the evolving therapeutic landscape for Huntington's disease.
Abstract: Genital Tuberculosis (GTB) represents a frequently unrecognized type of extrapulmonary Tuberculosis (TB) that affects the female reproductive system. The condition results in infertility, menstrual cycle disturbances, and pelvic pain. The condition is difficult to detect at an early stage because its mild symptoms can manifest in different body parts. Therefore, medical professionals require better methods for diagnosing and treating patients. This review aims to provide a comprehensive overview of the epidemiology, pathogenesis, clinical manifestations, diagnostic approaches, therapeutic strategies, and current advancements in the management of GTB. The study presents information on New Drug Delivery systems (NDDs), current clinical trials, and new patents to guide future research. A literature-based narrative review was conducted, focusing on peer-reviewed articles, clinical studies, patents, and recent advances in diagnostics and therapeutics of GTB. The study focused on three main areas: anatomical site-specific manifestations; laboratory instruments and drug medications. The fallopian tubes are the most commonly affected site (90-100%), followed by the endometrium (50-60%), ovaries (20-30%), cervix (5-10%), while involvement of the vagina and vulva is rare (<1%). The diagnosis of GTB becomes problematic because both its visible and hidden symptoms start to appear. The development of effective detection methods depends on both traditional diagnostic methods and modern molecular methods, which include specialized laboratory equipment, imaging techniques, and histopathology. Current clinical trials and new patent approvals demonstrate the development of new methods for diagnosing and treating GTB, including improved therapeutic approaches and drug delivery systems. GTB presents both diagnostic and treatment difficulties because patients show different symptoms that can remain hidden. The combination of methods for diagnosing and treating GTB, through improved therapeutic approaches and drug-delivery systems, will enhance detection, treatment outcomes, and the ability to maintain fertility. The research should investigate personalized medicine approaches, molecular diagnostic technologies, and new therapeutic delivery systems to address the existing clinical needs in GTB treatment.
Background: Polycystic liver disease is a genetic pathology characterized by the formation of numerous cysts in the liver. This case is notable for the rare presentation of isolated polycystic liver disease leading to secondary obstructive uropathy. Unlike the more common association with autosomal dominant polycystic kidney disease, this patient exhibited no evidence of bilateral polycystic kidney disease; the only renal finding was a solitary simple cyst in the contralateral kidney, considered an incidental finding, highlighting an unusual extrinsic mechanism of urinary tract obstruction due to massive hepatomegaly. In adults, polycystic liver disease often manifests as an extra-renal complication of autosomal dominant polycystic kidney disease. In rare cases, however, it may present solely as autosomal dominant polycystic liver disease without renal involvement. Case Presentation: In this study, we describe a patient with isolated polycystic liver disease, in whom marked hepatomegaly progressively compressed and displaced the kidney, obstructing the ureter at the pyeloureteral junction. Imaging studies, including abdominal ultrasound and computed tomography, confirmed the extent of cystic involvement and the resulting mass effect. This led to the gradual development of severe hydronephrosis, evident both on palpation and during clinical examination of the abdomen. Hydronephrosis, in turn, exerted pressure on adjacent organs such as the liver, pancreas, stomach, and large vessels, causing symptoms including abdominal distension, dysphagia, gastroesophageal reflux, early satiety, reduced mobility, as well as abdominal and lumbar pain. Conclusion: Clinicians should consider the possibility of mass effect complications in patients with isolated polycystic liver disease, as early recognition and intervention may help prevent severe secondary organ dysfunction.
