Accurate identification of invasive fungal pathogens is crucial for appropriate antifungal therapy. The Department of Clinical Laboratory at Indus Hospital & Health Network, Karachi, Pakistan, reported two cases of invasive fungal infections between 1st January and 31st March 2024 in which conventional identification methods and automated systems produced discordant results, highlighting critical diagnostic challenges.

Two invasive yeast isolates initially showing budding yeast cells without pseudohyphae on Gram stain were subjected to conventional identification using cornmeal-Tween 80 agar, chrome agar, and BiGGY agar, followed by automated identification using the VITEK 2 ID-YST system and confirmatory API 20C AUX testing. Both isolates demonstrated typical soft, wrinkled, cream-colored colonies on Sabouraud dextrose agar, which on chrome agar appeared as dry, blue colonies and on BiGGY agar as dry, brown colonies. Characteristic arthroconidia and blastoconidia formation on cornmeal-Tween 80 agar were observed, consistent with Trichosporon species. However, the VITEK 2 ID-YST system identified both isolates as Cryptococcus laurentii with good confidence levels. India ink staining was negative for both isolates. Confirmatory API 20C AUX testing correctly identified both isolates as Trichosporon asahii (identification profile 3740734).

This discordance between automated and conventional methods underscores the continued importance of conventional identification techniques and highlights potential limitations of automated systems for certain uncommon yeasts. Laboratories should maintain proficiency in conventional methods and consider confirmatory testing when automated results conflict with morphological findings. The clinical implications of misidentification include inappropriate antifungal selection, given the different susceptibility patterns between these species.

Autoimmune hepatitis (AIH) frequently coexists with extrahepatic autoimmune diseases (EADs), but their prevalence, characteristics, progression, and treatment effect in the Han Chinese population remain unclear. This study aimed to evaluate the prevalence and spectrum of EADs and to assess their clinical features, disease course, and treatment outcomes in Han Chinese patients with AIH.

Medical records of 371 Han Chinese patients with AIH (diagnosed from March 2016 to October 2023) were retrospectively analyzed.

Among the 371 AIH patients, 304 (81.94%) were female, with a median age of 52.5 years (interquartile range, 46.0–61.0). A total of 23.98% (89/371) had at least one EAD, including 27.06% (82/303) in type 1 AIH, 11.11% (7/63) in antibody-negative AIH, and none in type 2. A single EAD was the most common (20.21%, 75/371). The most frequent EADs were Sjogren’s syndrome (8.63%) and autoimmune thyroid disease (8.36%). Compared with patients without EADs, those with EADs had lower alanine aminotransferase, red blood cell, and hemoglobin levels, but higher aspartate aminotransferase/alanine aminotransferase ratio and antinuclear antibody (ANA) positivity (all P < 0.05). ANA positivity was independently associated with EADs (odds ratio = 2.209, 95% confidence interval = 1.242–3.927, P = 0.007). After three months of treatment, the complete biochemical response rate was lower in the EADs group than in the non-EADs group (40.0% vs. 55.3%, P = 0.024), whereas no significant differences were observed at 6, 12, 24, or 36 months (all P > 0.05).

In the Han Chinese population, 23.98% of AIH patients had EADs, with Sjogren’s syndrome and autoimmune thyroid disease being the most common. ANA positivity was a significant risk factor for EADs. EAD patients had a poorer initial treatment response at three months, but comparable long-term biochemical response from six months.

Cannabinoid hyperemesis syndrome is an underrecognized cause of recurrent vomiting, weight loss, and abdominal pain in adolescents, often overlooked due to its nonspecific presentation and overlap with other gastrointestinal conditions. This case report highlights a 13-year-old female who presented with significant weight loss and postprandial bilious vomiting initially attributed to superior mesenteric artery syndrome. Persistent symptoms, despite surgical removal of an incidental ovarian dermoid cyst, prompted reevaluation after nondiagnostic imaging and lack of improvement. Further history obtained on hospital day 12 revealed daily cannabis use since age 10, with reported cessation approximately six weeks prior to admission and probable resumed use approximately two weeks prior to presentation, confirmed by a positive urine toxicology screen for tetrahydrocannabinol consistent with chronic heavy use. Following supportive care and counseling on cannabis cessation, her acute symptoms resolved and she was discharged. She subsequently experienced a symptomatic relapse with resumed cannabis use requiring readmission two months later, but achieved sustained clinical remission at approximately six months following definitive cessation. This case illustrates how incomplete social histories and incidental findings can delay the identification of cannabinoid hyperemesis syndrome and lead to unnecessary procedures, and emphasizes that long-term symptom resolution requires ongoing cannabis abstinence. Early use of validated structured substance use screening tools (CRAFFT, BSTAD, S2BI), with urine toxicology applied as a confirmatory adjunct when the history is unreliable or symptoms remain unexplained, can facilitate timely recognition of cannabinoid hyperemesis syndrome in adolescents with persistent vomiting and abdominal pain, reduce hospital length of stay, and improve outcomes.

ATP-binding cassette (ABC) transporters are transmembrane proteins involved in the translocation of bilirubin, bile acids, phospholipids, and cholesterol into bile canaliculi. Mutations in particular genes encoding these transporters—including BSEP (ABCB11 gene), MDR3 (ABCB4 gene), sterolin-1 and sterolin-2 (ABCG5/8 genes), and MRP2 (ABCC2 gene)—result in a wide spectrum of liver diseases, ranging from benign conditions such as Dubin-Johnson syndrome to more severe presentations like progressive familial intrahepatic cholestasis. The severity of disease is influenced by many factors, including zygosity, mutation type, and environmental modifiers such as hormones, consanguinity, and founder effects. Homozygous and compound heterozygous mutations typically result in severe and early-onset diseases, while heterozygous single-allelic mutants generally result in milder diseases. Next-generation genetic testing has proven to have high diagnostic value and is important for prognostication. With knowledge of the underlying specific mutations, there is also potential for future targeted therapy for many severe diseases. The aim of this review is to update and discuss the hepatic diseases associated with ABC transporter mutations, the genetic and environmental effects that influence the severity of disease, typical presentations of these cholestatic hepatic diseases, diagnostic considerations, and treatment options.

Diabetic cardiomyopathy (DCM), a diabetes-specific cardiovascular complication, is pathologically characterized by cardiomyocyte apoptosis, oxidative stress, inflammatory responses, and myocardial fibrosis, distinguishing it from other cardiac disorders, such as hypertension and coronary artery disease. Challenges in early diagnosis, coupled with the limited efficacy and adverse effects of current treatments, have made DCM a significant contributor to heart failure and mortality in patients with diabetes. Natural products, recognized for their diverse sources, structural variety, and multitarget therapeutic potential, have shown promise in preventing and treating DCM. Drawing on advances over the past five years, this review systematically summarizes the pharmacological effects and molecular mechanisms of natural products (e.g., flavonoids, terpenoids, phenylpropanoids, alkaloids, and polysaccharides) in the treatment of DCM, with the aim of providing a theoretical foundation for further research and drug development.

Mild traumatic brain injury (mTBI) represents the majority of head injury presentations in emergency departments (EDs), yet only a minority of patients have acute intracranial lesions on computed tomography (CT). This leads to widespread use of unnecessary CT scans. Point-of-care (POC) biosensing, defined as analytical testing performed at or near the site of patient care, offers a promising solution to this dilemma by enabling rapid biomarker quantification to inform CT decision-making. This review aims to evaluate POC-compatible biosensing strategies for ultra-early mTBI triage, with emphasis on platforms, matrix effects, and benchmarking aligned with CT-based decision-making. Two key precedents support this approach: (1) the integration of S100B into Scandinavian Neurotrauma Committee guidelines, which has demonstrated the potential for safe reduction of CT scans, and (2) the regulatory clearance of glial fibrillary acidic protein (GFAP) and ubiquitin C-terminal hydrolase-L1 (UCH-L1) testing to rule out the need for head CT in adults with suspected mTBI (Glasgow Coma Scale 13–15) when serum is collected within 12 hours of injury. Accordingly, this review focuses on the most implementable use case for mTBI, namely CT triage/rule-out. It synthesizes the current biomarker landscape (S100B, GFAP, UCH-L1), analyzes POC-suitable sensing modalities, and proposes a practical validation and benchmarking framework aligned with this intended use. A critical component is interference testing and real-world sample robustness, including vulnerabilities such as hemolysis-related elevation of UCH-L1. In conclusion, the most reliable path for biosensor translation in mTBI is to anchor development and validation to the ED CT-triage use case, emphasizing decision-point robustness and resilience to real-world sample variability over pure analytical sensitivity.

Accumulating evidence indicates that fecal syndecan-2 (SDC2) methylation is a promising biomarker for early detection of colorectal cancer. This study aimed to investigate the diagnostic efficacy of fecal SDC2 methylation testing for adenomas and evaluate the risk stratification efficacy of the Asia-Pacific Colorectal Screening Scoring (APCS) combined with SDC2 methylation status.

This was a prospective, multicenter diagnostic study. Adult participants with no history of colonoscopy within the past three years were enrolled. Demographic data were collected, and APCS scores were evaluated. All participants underwent fecal SDC2 methylation testing and colonoscopy. Colonoscopy outcomes and pathological results of any polyps served as reference standards. The fecal SDC2 methylation test and reference standard assessments were conducted in a blinded manner. The APCS-SDC2 scoring system was developed by integrating fecal SDC2 methylation results with APCS scores, and its efficacy was assessed.

In total, 985 participants were enrolled, among whom 62 (6.3%) tested positive for fecal SDC2 methylation. The sensitivity and specificity of fecal SDC2 methylation in detecting advanced adenomas were 31.3% (95% confidence interval (CI): 21.6–42.7%) and 96.1% (95% CI: 94.6–97.2%), respectively. The APCS-SDC2 scoring system demonstrated superior discriminatory performance for advanced adenomas (area under the curve: 0.7032; 95% CI: 0.5869–0.8195). For advanced adenoma screening, the specificity of the APCS-SDC2 score was higher than that of the APCS score (86.7% vs. 66.7%; P < 0.001).

A positive fecal SDC2 methylation test indicated a higher risk of advanced adenoma, and colonoscopy should be prioritized. The APCS-SDC2 scoring system demonstrated superior risk stratification performance for advanced adenomas.