Search Results (2,106)

Acute kidney injury (AKI) is a serious clinical condition that is linked to markedly higher rates of morbidity and mortality in cirrhosis patients. Its diagnosis is challenging due to overlapping clinical and laboratory features among causes such as hepatorenal syndrome (HRS), acute tubular injury (ATI), and prerenal hypovolemia. In order to address the distinct pathophysiology and clinical context of cirrhosis, the definitions and classification of AKI have changed over time, moving from RIFLE and AKIN to KDIGO and ICA-AKI. Because cirrhosis patients have altered muscle mass and fluid retention, traditional markers like serum creatinine (sCr) and urine output have significant limitations. Neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1), interleukin-18 (IL-18), and cystatin C (CysC) are some of the new biomarkers that have shown promise in early AKI detection and in differentiating structural from functional kidney injury. NGAL and KIM-1 are sensitive indicators of tubular damage with potential prognostic implications. IL-18 reflects inflammatory injury, and CysC offers a more reliable measure of glomerular filtration. Incorporating these markers may improve early diagnosis, risk stratification, and treatment decisions, representing a key direction for future research in managing AKI in cirrhosis. Full article

Nephrotic syndrome (NS) is characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Apart from the traditional causes of NS, such as minimal change disease, focal segmental glomerulosclerosis, diabetes, infections, malignancies, autoimmune conditions, and nephrotoxic agents, there are also rare causes of NS, whose knowledge is of the utmost importance. The aim of this article was to highlight the less well-known causes that have a significant impact on diagnosis and treatment. Genetic syndromes such as Schimke immuno-osseous dysplasia, familial lecithin-cholesterol acyltransferase deficiency with two clinical variants (fish-eye Disease and the p.Leu364Pro mutation), lead to NS through mechanisms involving podocyte and lipid metabolism dysfunction. Congenital disorders of glycosylation and Nail–Patella Syndrome emphasize the role of deranged protein processing and transcriptional regulation in glomerular injury. The link of NS with type 1 diabetes, though rare, suggests an etiology on the basis of common HLA loci and immune dysregulation. Histopathological analysis, particularly electron microscopy, shows mainly podocyte damage, mesangial sclerosis, and alteration of the basement membrane, which aids in differentiating rare forms. Prompt recognition of these novel etiologies by genetic analysis, renal biopsy, and an interdisciplinary panel is essential to avoid delays in diagnosis and tailored treatment. Full article

Purpose: The present study aims to evaluate alterations in the peripapillary retinal nerve fiber layer (RNFL) thickness in pediatric patients following surgical resection of childhood-onset craniopharyngioma (CP) and to identify tumor characteristics and other factors influencing these alterations, including changes in the lesion’s location. Design: retrospective clinical cohort study. Methods: A retrospective analysis was conducted on 73 eyes from 38 patients with CP and 64 eyes from 32 age- and sex-matched healthy controls. The mean age of the CP patients was 10.3 ± 4.2 years (range 4–17), while the control group had a mean age of 10.5 ± 3.1 years (range 4–17). Optical coherence tomography (OCT) was used to assess the peripapillary RNFL thickness in the study and control groups. RNFL thickness was analyzed in the superior, inferior, and average sectors, as well as across eight optic nerve sectors. Tumor characteristics were evaluated to determine their correlation with changes in RNFL thickness in individual sectors. Results: Postoperative thickness of peripapillary RNFL in all individual sectors was significantly reduced in the CP group compared to healthy controls. Location, tumor volume, maximum tumor diameter, calcification, ventriculoperitoneal shunt, surgery technique, total resection, presence of Rosenthal fibers, and reoperation due to progression or recurrence correlated with damage to RNFL. Conclusions: CP is associated with significant reductions in RNFL thickness, indicating the tumor’s impact on optic nerve fibers. OCT is a valuable tool for monitoring visual pathway impairment and postoperative outcomes. Correlations between RNFL thickness in individual sectors and clinical parameters may offer valuable insights for diagnosis and monitoring, underlining their potential role in predicting visual outcomes. Regular RNFL evaluation should be integrated into the long-term care of CP patients to optimize visual prognosis and detect progressive or residual damage. Full article

Introduction: Renal malacoplakia is a rare chronic granulomatous disease, often associated with immunosuppression and persistent Gram-negative infections, particularly Escherichia coli. Case Presentation: We present a case involving a 31-year-old woman with hypertension, gestational diabetes, and prior uterine curettage after labor induction for preeclampsia at 23 weeks. She developed urinary sepsis post-procedure. Imaging revealed bilateral nephromegaly, while laboratory tests showed acute kidney injury (KDIGO stage III), anemia, and thrombocytopenia. Blood and urine cultures grew Escherichia coli. Renal biopsy confirmed malacoplakia, demonstrating PAS-positive Michaelis–Gutmann bodies and Von Hansemann cells. The patient responded to prolonged antibiotic therapy and supportive care. Discussion and Conclusion: This case highlights the importance of considering renal malacoplakia in patients with atypical urinary tract infections and nephromegaly, particularly in obstetric settings. Histopathological confirmation is essential, and timely treatment with intracellularly active antibiotics can lead to favorable outcomes. Early diagnosis is critical to prevent irreversible renal damage. Full article

The development of severe SARS-CoV-2 pneumonia is characterized by extensive lung inflammation, which, in turn, leads to respiratory distress and a decline in blood oxygen levels. Hospital admission, along with intensive care or ventilator usage, becomes necessary because this condition leads to serious respiratory problems. This review aims to provide a comprehensive overview of the pathophysiological mechanisms, diagnostic methods, and current therapeutic options for pneumonia caused by the SARS-CoV-2 virus. The pathophysiological process of severe pneumonia due to SARS-CoV-2 infection is characterized by direct lung damage from viral replication, an excessive immune system response, inflammation, impaired gas exchange, and multi-organ failure. The coexistence of various medical conditions leads to substantial lung impairment, resulting in hypoxia and respiratory failure, which can ultimately lead to fatal outcomes. The diagnosis of severe SARS-CoV-2 pneumonia is made through a combination of clinical, radiologic, and laboratory findings. A multifaceted approach integrating antiviral therapy, corticosteroids, oxygen supplementation, ventilatory management, and immunomodulation is imperative to control inflammation and enhance clinical outcomes. Early intervention, meticulous monitoring, and personalized care are paramount for enhancing survival and mitigating complications in critically ill patients with COVID-19 pneumonia. Full article

Osteochondritis Dissecans (OCD) is a joint condition characterized by damage to the surface of the joint and the underlying subchondral bone, leading to early-onset osteoarthritis. It predominantly affects the knee, elbow, and ankle, with higher prevalence in juveniles actively participating in sports, which complicates the condition due to slow healing processes and prolonged restrictions on physical activities. This review aims to summarize current knowledge on OCD in athletes, with emphasis on sport-specific risk factors, diagnosis, and treatment, to support clinical decision-making and future research. We conducted searches in the PubMed and Embase databases, covering the period from 2014 to 2024. The keywords used in the search covered most common sports in combination with term osteochondritis dissecans. This review examines the impacts of various sports on the development of OCD, analyzing prevalence and risk factors, with a focus on sports-specific risks across athletic disciplines like football, basketball, baseball, and gymnastics. The significance of early detection, intervention, and sport-specific conditioning is underscored to prevent the condition and manage it effectively. Moreover, the review highlights the positive prognosis for athletes, particularly adolescents, recovering from OCD, with a high rate of return to sport. Understanding the sports-specific risks, ensuring early intervention, and adopting a cautious, stepwise return to sport are critical for managing OCD effectively, thereby safeguarding the health and careers of athletes. Full article

Cystinosis is a rare systemic disease characterized by the accumulation of cystine in tissues, leading to multi-organ damage. Infantile nephropathic cystinosis is the dominant and severe form of cystinosis with critical renal manifestations that require kidney transplantation at an early age if left untreated. Cysteamine, the lifelong cystine-depleting therapy, is the mainstay treatment of nephropathic cystinosis. Cysteamine prevents cystine crystal formation and delays disease progression. While the initially introduced cysteamine consists of an immediate-release (IR) formulation, a delayed-release (DR) formulation has been developed with a simplified dosing regimen (Q12H instead of Q6H) and an improved quality of life while maintaining comparable efficacy. Due to the rare incidence of the disease and lack of international guidelines, diagnosis and treatment initiation are oftentimes delayed, leading to a poor prognosis. Pediatric and adult nephrologists from Kuwait, Saudi Arabia, the United Arab Emirates (UAE), and Qatar, in addition to one international expert from Amsterdam, convened to share their clinical experience, reflecting on the challenges encountered and therapeutic approaches followed in the management of nephropathic cystinosis in the Gulf Cooperation Council (GCC) region. Experts completed a multiple-choice questionnaire and engaged in structured discussions, where they shed light on gaps and limitations with regard to diagnostic tests and criteria to ensure early diagnosis and timely treatment initiation. Based on available literature, experts suggested an algorithm to help guide nephropathic cystinosis management in the GCC. It is highly recommended for patients who do not tolerate IR-cysteamine and do not adhere to IR-cysteamine treatment to switch to DR-cysteamine. Given the systemic nature of the disease, a multi-disciplinary approach is required for optimal disease management. Full article

Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by venous and arterial thrombosis and obstetric complications, driven by antiphospholipid antibodies (APLAs). This review synthesizes the latest advancements and current understanding, diagnosis, and treatment of APS. APLAs, including lupus anticoagulant (LAC), anticardiolipin (aCL), and anti-β2-glycoprotein I (aβ2-GPI), interfere with coagulation and endothelial function, as well as with placental health. APS can be primary or secondary; it is often associated with systemic autoimmune diseases like lupus. The pathogenesis of APS remains only partially understood. APLAs promote thrombosis through endothelial damage, platelet activation, and inflammatory signaling pathways. Laboratory diagnosis relies on persistent positivity for APLAs and LAC through tests like ELISA and clotting assays, following a three-step confirmation process. New integrated test systems have been introduced to improve standardization. Classification criteria have evolved, with the 2023 EULAR-ACR criteria providing a weighted, domain-based scoring system, enhancing diagnostic precision. Catastrophic APS (CAPS) is a severe, rare manifestation of APS, characterized by multi-organ failure due to rapid, widespread microthrombosis and systemic inflammation, which requires urgent anticoagulation. Seronegative APS is proposed for patients with clinical features of APS but negative standard antibody tests, possibly due to non-criteria antibodies or transient immunosuppression. Treatment primarily involves long-term anticoagulation with vitamin K antagonists; direct oral anticoagulants are generally not recommended. APS diagnosis and management remain complex due to clinical heterogeneity and laboratory challenges. Continued refinement of diagnostic tools and criteria is essential for improving outcomes in this life-threatening condition. Full article

Coastal areas are prone to thunderstorms. Lightning strikes can damage power facilities and communication systems, thereby leading to serious consequences. The lightning location network achieves lightning location through data fusion from multiple lightning locator nodes and can detect the location and intensity of lightning in real time. It is an important facility for thunderstorm warning and protection in coastal areas. However, when a sensor node in a lightning location network experiences a soft fault, it causes distortion in the lightning location. To achieve fault diagnosis of lightning locator nodes in a multi-node data fusion mode, this study proposes a new lightning location mode: the observer pattern. This paper first analyzes the main factors contributing to the error of the lightning location algorithm under this mode, proposes an observer pattern estimation algorithm (OPE) for lightning location, and defines the proportion of improvement in lightning positioning accuracy (PI) caused by the OPE algorithm. By analyzing the changes in PI in the process of lightning location, this study further proposes a diagnostic algorithm (OPSFD) for soft-fault nodes in a lightning location network. The simulation experiments in the paper demonstrate that the OPE algorithm can effectively improve the positioning accuracy of existing lightning location networks. Therefore, the OPE algorithm is also a low-cost and efficient method for improving the accuracy of existing lightning location networks, and it is suitable for the actual deployment and upgrading of current lightning locators. Meanwhile, the experimental results show that when a soft fault causes the observation error of the node to exceed the normal range, the OPSFD algorithm proposed in this study can effectively diagnose the faulty node. Full article

Early diagnosis is critical for the effective management of neurodegenerative disorders, and retinal alterations have emerged as promising early biomarkers due to the retina’s close developmental and functional link to the brain. The zebrafish (Danio rerio), with its rapid development, transparent embryos, and evolutionarily conserved visual system, represents a powerful and versatile model for studying retinal degeneration. This review discusses a range of behavioral assays—including visual adaptation, motion detection, and color discrimination—that are employed to evaluate retinal function in zebrafish. These methods enable the detection of subtle visual deficits that may precede overt anatomical damage, providing a non-invasive, efficient strategy for early diagnosis and high-throughput drug screening. Importantly, these behavioral tests also serve as sensitive functional readouts to evaluate the efficacy of pharmacological treatments over time. Compared to traditional murine models, zebrafish offer advantages such as lower maintenance costs, faster development, optical transparency for live imaging, and ethical benefits due to reduced use of higher vertebrates. However, variability in experimental protocols highlights the need for standardization to ensure reliability and reproducibility. Full article

We report a case of herpes simplex virus type 1 (HSV-1) anterior uveitis evolving into an acute iris transillumination-like syndrome with secondary pigmentary glaucoma, highlighting diagnostic challenges and treatment considerations. A 61-year-old immunocompetent woman presented with unilateral anterior uveitis characterized by keratic precipitates and mild anterior chamber inflammation. The condition was initially treated with topical and subconjunctival corticosteroids without antiviral therapy. After an initial resolution of symptoms, upon the cessation of treatment, the patient developed features resembling unilateral acute iris transillumination (UAIT) syndrome with elevated intraocular pressure, diffuse pigment dispersion, and progressive iris transillumination defects. Aqueous polymerase chain reaction (PCR) testing confirmed the presence of HSV-1. Despite the initiation of antiviral therapy, the condition progressed to severe pigmentary glaucoma, with unreliable intraocular pressure measurements due to prior LASIK surgery. Cataract extraction, pars plana vitrectomy, and Ahmed valve implantation were performed, with only partial recovery of visual acuity. This case illustrates that HSV-1 uveitis can mimic or transition into a UAIT-like syndrome, possibly due to steroid use without concurrent antiviral treatment, which may exacerbate viral replication and damage to the iris pigment epithelium. Aqueous PCR testing aids in differential diagnosis, but indicative medical history and clinical findings should remain instrumental. Clinicians should maintain a high index of suspicion for herpetic etiology in anterior uveitis cases and initiate prompt antiviral treatment to prevent potentially sight-threatening complications. Full article

Iatrogenic urinary tract injury is a known complication of pelvic surgery, most commonly occurring during gynecological procedures. The bladder and ureters are particularly vulnerable due to their close anatomical proximity to the uterus. Urinary tract damage can result from various mechanisms, including laceration, ligation, and thermal injury. Incidence rates vary according to the affected organ and surgical type; bladder injuries occur in 0.24% of benign and 0.4–3.7% of oncologic surgeries, whereas ureteral injuries are reported in 0.08% of benign and 0.39–1.1% of oncologic procedures. Timely diagnosis is essential for effective management. When detected intraoperatively, the injury can often be repaired immediately. Surgical treatment options vary depending on the specific nature and location of the bladder or ureteral damage. Delayed diagnosis can significantly impact the patient’s quality of life, increasing the risk of severe complications such as genitourinary fistulas. This narrative review aims to summarize current evidence on the diagnosis, prevention, and treatment of urinary tract injuries occurring during gynecological surgery. It evaluates risk factors, incidence, management, complications, and prevention strategies for iatrogenic bladder and ureteral injuries. Additionally, it highlights the innovative role of artificial intelligence in preventing urologic damage during gynecological procedures. The relevant literature was identified through a structured search of the PubMed database using predefined keywords related to gynecological surgery and urinary tract injury. Full article

Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive syndrome caused by loss-of-function mutations in the Neurotrophic Tyrosine Kinase Receptor 1 gene, characterized by recurrent episodes of infections and unexplained fever, anhidrosis, absence of reactions to noxious stimuli, intellectual disability, self-mutilating behaviors, and damage to many body organs, including the eyes. Main text: We systematically searched the Medline/PubMed, Scopus, and Web of Science databases from their inception until March 2025 for papers describing the clinical manifestations of patients with CIPA. The inclusion criterion was papers reporting ocular manifestations of patients diagnosed with CIPA. We excluded non-English papers or those reporting ocular manifestations of patients diagnosed with syndromes other than CIPA. Also, we excluded review articles, clinical trials, gray literature, or any paper that did not report ocular manifestations of patients with CIPA or that reported patients with previous ocular surgeries. Out of 6243 studies, 28 were included in the final analysis, comprising 118 patients. The mean age was 7.37 years, and males represented 63.5% (n = 75). Of the patients, fifty-six had bilateral ocular manifestations. The most common ocular manifestations were the absence of corneal reflex in 56 patients (47.5%, bilateral in 56), whereas corneal ulcerations were the second most common manifestation in 46 patients (38.98%, bilateral in 8), followed by corneal opacity in 32 patients (27.11%, bilateral in 19). Topical lubricants, topical antibiotics, and lateral tarsorrhaphy were common management modalities for these patients. Absent corneal sensitivity, corneal ulcers, and corneal opacities, among other manifestations, are common ocular presentations in patients with CIPA. Conclusions: Self-mutilation, intellectual disability, decreased lacrimation, and absence of the corneal reflex are factors that may explain the development of these manifestations in CIPA. The early detection of these manifestations can improve patient conditions and prevent further complications, in addition to helping to guide the clinical diagnosis of CIPA in these patients. Full article

Testicular germ cell tumors (TGCTs) are the most common malignancies affecting young men between the ages of 14 and 44, accounting for about 95% of all testicular cancers. Despite being relatively rare compared to other cancers (~3.0 cases per 100,000 population, with high worldwide variability), TGCTs’ incidence is increasing, particularly in industrialized countries. The initial phase of TGCT diagnosis is performed by detecting in the blood the presence of three proteins, i.e., alpha-fetoprotein (AFP), lactate dehydrogenase (LDH), and human chorionic gonadotropin (hCG). Despite these proteins being defined as markers of TGCTs, they present limitations in specificity. Indeed, AFP is not elevated in pure seminomas; LDH serum levels can be elevated in other conditions, such as liver disease or tissue damage, and hCG can be elevated in both seminomas and non-seminomas, reducing its ability to differentiate between tumor types. However, the existence of hCG variants, characterized by distinct glycosylation profiles that are differentially expressed in TGCT types and subtypes, may increase the diagnostic and prognostic potential of this hormone. Furthermore, emerging molecular biomarkers, including miRNAs and tumor cells-related epigenetic status, may offer new promising alternatives to improve diagnostic accuracy. Nonetheless, standardized diagnostic protocols still need to be implemented. Finally, understanding the biological roles of hCG isoforms and their “canonical” (e.g., LHCGR) and “non-canonical” (e.g., TGF-βR) receptor interactions may help in understanding tumor biology and therapeutic targeting. Full article

Background and Clinical Significance: Ocular cicatricial pemphigoid (OCP) is a rare autoimmune disease affecting the conjunctiva and oral mucosa. Chronic inflammation causes conjunctival scarring, leading to symblepharon, trichiasis, corneal damage, and possible blindness. Diagnosis is clinical, supported by biopsy and immunofluorescence. Treatment includes systemic corticosteroids, immunosuppressants, and biologics in refractory cases. Case Presentation: A 64-year-old male presented with ocular irritation, trichiasis, and counting fingers (CF) visual acuity in the left eye. Slit-lamp examination revealed conjunctival inflammation, corneal epithelial defect, and symblepharon in the left eye. Biopsy confirmed ocular cicatricial pemphigoid (OCP). He was treated with topical steroids, cyclosporine, subconjunctival injections, and systemic corticosteroids, followed by surgery, which improved BCVA to 0.10 logMAR. Two years later, disease progression resulted in severe inflammation and visual decline in both eyes. Systemic azathioprine and corticosteroids achieved partial control. Due to insufficient response, rituximab therapy was initiated, leading to significant reduction in inflammation and stabilization of disease. Right eye BCVA improved to 0.16 logMAR; the left remained at CF. The patient continues to receive rituximab during exacerbations and is under regular follow-up. Conclusions: Early diagnosis and timely systemic treatment are essential in preventing vision loss in OCP. In refractory cases, biologic agents like rituximab may offer effective disease control. Full article