Diagnostics最新文献

Background: Accurate microbiological diagnosis of bone and joint infections (BJIs) is frequently hampered by low bacterial load, biofilm formation, and suboptimal tissue processing. This study evaluated the diagnostic performance of mechanical bead-milling using the Ultra-Turrax^® Tube Drive system compared with standard vortex homogenization. Methods: In a prospective cohort of 116 patients undergoing surgery for suspected BJIs, 540 intraoperative samples were processed using both methods. Culture and 16S rRNA PCR results were analyzed using classical and Bayesian statistical approaches. Diagnostic performance was assessed globally and across specimen types and anatomical sites. Results: Ultra-Turrax^® significantly improved sensitivity across all sample types (87.1% vs. 75.2%, p < 0.0001), while maintaining comparable specificity (>99%). Culture positivity increased by 17%, with the greatest gains observed in bone samples and hip prosthesis infections. Quantitative cultures demonstrated a 1.5-2 log₁₀ CFU/mL increase in bacterial yield. In culture-negative specimens, 16S rRNA PCR detection doubled with Ultra-Turrax^® processing (26% vs. 13%, p = 0.04). No increase in contamination was observed. Time to positivity was similar between methods, although Ultra-Turrax^® provided earlier results in 17% of cases. Bayesian modeling confirmed superior sensitivity (posterior probability > 0.995). Conclusions: Ultra-Turrax^® bead-milling markedly enhances microbiological detection in BJIs, particularly in low-biomass and bone-derived specimens. Its simplicity, reproducibility, and compatibility with routine workflows support its integration into diagnostic pathways. This pre-analytical optimization may improve etiological identification and guide more targeted antimicrobial therapy.

Background and Clinical Significance: Prader-Willi syndrome (PWS) is an imprinting disorder not typically associated with severe congenital sensorineural hearing loss (SNHL). When profound SNHL is present in an infant with a known syndrome, an independent monogenic etiology should be considered. We report the first molecularly confirmed case of PWS co-occurring with biallelic pathogenic TMC1 variants causing congenital SNHL, outlining diagnostic challenges, cochlear implant (CI) outcomes, and implications for blended phenotypes. Case Presentation: A male infant with PWS due to a paternal 15q11.2-q13 deletion failed newborn hearing screening. Diagnostic auditory brainstem response and auditory steady-state response confirmed bilateral severe-to-profound SNHL. Temporal bone CT/MRI were normal. Comprehensive genetic testing identified compound heterozygous TMC1 variants consistent with autosomal recessive DFNB7/11 hearing loss, plus two variants of uncertain significance in SERPINB6 and EPS8L2. Sequential bilateral cochlear implantation was performed (left ear at 14 months, right at 20 months), followed by auditory-verbal therapy. Over four years, the child showed steady improvements in hearing and early-speech development. Conclusions: Early genomic evaluation is essential when clinical features appear atypical for a known syndrome. Identifying TMC1-related deafness enabled timely cochlear implantation and measurable gains. This case highlights that severe congenital SNHL in a syndromic infant may reflect a distinct monogenic disorder rather than phenotypic expansion of the primary syndrome, emphasizing the importance of recognizing blended phenotypes to guide precision-care strategies in rare disorders.

Background/Objectives: Preeclampsia is a leading cause of maternal and perinatal morbidity worldwide, yet its underlying mechanisms remain unclear. Polyunsaturated fatty acids, particularly docosahexaenoic acid (DHA), are essential for placental development and vascular function, but evidence on their role in preeclampsia is inconsistent. This study aimed to compare serum DHA levels between women with preeclampsia and normotensive pregnant women and to examine their association with disease severity and maternal and perinatal outcomes. Methods: A total of 145 pregnant women aged 18-40 years were enrolled, including 47 with newly diagnosed preeclampsia (PE) and 98 normotensive controls. PE was defined according to the ACOG 2019 criteria. Serum DHA levels were measured using ELISA in fasting blood samples collected at the first visit. Results: Maternal serum DHA levels did not differ significantly between preeclampsia and control groups (p = 0.571); they were similar across control, mild PE, and severe PE groups. DHA showed a negative correlation with neutrophil-to-lymphocyte ratio (r = -0.305) and maternal hospitalization duration (r = -0.334). Independent predictors of PE included nulliparity (OR: 4.43), advanced age (OR: 1.14), elevated BMI (OR: 1.29), and low albumin (OR: 0.77). After adjusting for age and BMI, DHA was an independent negative predictor of IUGR (OR: 0.65). Conclusions: DHA levels: Placental and/or fetal DHA metabolism may be impaired in patients with preeclampsia. Although DHA was not associated with the development of PE, it was a negative predictor of IUGR. DHA reduces the length of maternal hospital stay through its anti-inflammatory effect.

Background/Objectives: Interstitial pneumonia with autoimmune features (IPAF) is a recently defined entity characterized by interstitial lung disease (ILD) with clinical, serological, and radiological features suggestive of autoimmunity that do not fulfil the criteria for a defined connective tissue disease (CTD). This study aimed to evaluate the clinical characteristics, treatment modalities, and outcomes of patients with IPAF in a tertiary referral center. Methods: We retrospectively analyzed 72 patients who fulfilled the IPAF classification criteria. Demographic, clinical, serological, radiological, pulmonary function, treatment, and survival data were collected and evaluated. Logistic regression analysis was performed to identify factors associated with mortality. Results: The cohort consisted of 62.5% female patients, with a mean age of 62.7 (SD, 10.4) years at diagnosis. The most frequent radiological pattern was nonspecific interstitial pneumonia (83.3%). Raynaud's phenomenon (6.9%) and arthritis (2.8%) were the most common rheumatological manifestations. Antinuclear antibodies positivity at titers ≥1:320 was observed in 27.8% of patients. Azathioprine was the most frequently prescribed agent (20.8%), followed by mycophenolate mofetil (11.1%). After a median follow-up of 30.1 months (IQR, 52.8), 16 patients (22.22%) died, with a 5-year survival rate of 70%. Glucocorticoid therapy at doses ≥20 mg/day was independently associated with increased mortality (OR 6.13 (95% CI 1.17-32.21). Conclusions: IPAF predominantly affects middle-aged females. Glucocorticoid use at doses ≥20 mg/day was associated with mortality; however, this observational association may reflect underlying disease severity rather than a causal effect of high-dose treatment. Further prospective studies are needed to optimize management strategies in patients with IPAF.

Objectives: Compression neuropathies such as Anterior Tarsal Tunnel Syndrome are usually associated with focal thickening at the compression site. This study aimed to determine the frequency and location of thickenings of dorsal foot nerves in asymptomatic, healthy volunteers. We hypothesized that focal nerve thickening of dorsal foot nerves is a frequent finding in asymptomatic individuals and occurs at anatomically plausible locations, potentially limiting the specificity of ultrasound in the diagnosis of anterior tarsal tunnel syndrome. Materials and Methods: In this prospective study, the nerves at the dorsal foot were examined with ultrasound in 60 volunteers without clinical signs of neuropathy. Cross-sectional area (CSA) changes along the nerve course were assessed, their anatomical location recorded, and demographic data collected. Results: Focal deep peroneal nerve (DPN) thickening was observed in 45% of participants, with a median CSA of 2.14 mm² (range: 0.84-5.16) and median length of 3.98 mm (range: 1.46-9.95). The most frequent site was the first tarsometatarsal joint (41%). Thickening occurred across all age groups. Superficial peroneal nerve (SPN) thickening was found in 13.3% of participants, primarily affecting the intermediate branch, with a median CSA of 1.82 mm² and length of 3.02 mm. No thickening was observed in the sural nerve (SN). A strong correlation was found between CSA and length of DPN thickening (r = 0.67, p < 0.001). Conclusions: Asymptomatic, focal thickening of dorsal foot nerves, particularly the DPN, is a frequent sonographic finding in healthy volunteers. These findings highlight the potential for false-positive ultrasound results and the necessity of correlating imaging findings with clinical examination when evaluating for anterior tarsal tunnel syndrome and similar neuropathies.

Periapical lesions (PALs) are a common sequela of pulpal pathology, and accurate radiographic detection is essential for successful endodontic diagnosis and treatment outcome. With recent advancements in Artificial Intelligence (AI), deep learning systems have shown remarkable potential to enhance the diagnostic accuracy of PALs. This study highlights recent evidence on the use of AI-based systems in detecting PALs across various imaging modalities. These include intraoral periapical radiographs (IOPAs), panoramic radiographs (OPGs), and cone-beam computed tomography (CBCT). A literature search was conducted for peer-reviewed studies published from January 2021 to July 2025 evaluating artificial intelligence for detecting periapical lesions on IOPA, OPGs, or CBCT. PubMed/MEDLINE and Google Scholar were searched using relevant MeSH terms, and reference lists were hand screened. Data were extracted on imaging modality, AI model type, sample size, subgroup characteristics, ground truth, and outcomes, and then qualitatively synthesized by imaging modality and clinically relevant moderators (i.e., lesion size, tooth type and anatomical surroundings, root-filling status and effect on clinician's performance). Thirty-four studies investigating AI models for detecting periapical lesions on IOPA, OPG, and CBCT images were summarized. Reported diagnostic performance was generally high across radiographic modalities. The study results indicated that AI assistance improved clinicians' performance and reduced interpretation time. Performance varied by clinical context: it was higher for larger lesions and lower around complex surrounding anatomy, such as posterior maxilla. Heterogeneity in datasets, reference standards, and metrics limited pooling and underscores the need for external validation and standardized reporting. Current evidence supports the use of AI as a valuable diagnostic platform adjunct for detecting periapical lesions. However, well-designed, high-quality randomized clinical trials are required to assess the potential implementation of AI in the routine practice of periapical lesion diagnosis.

Background/Objective: Recent North American guidelines suggest that CT is indicated for further evaluation where ultrasound (US) is negative, although the negative predictive value (NPV) of ultrasound in adult patients when the appendix is not seen remains unclear. To assess the negative predictive value (NPV) of ultrasound in adult patients when the appendix is not seen. Methods: A scoping review of MEDLINE and EMBASE was performed from inception to 13 May 2025 using PRISMA-ScR guidelines to identify studies evaluating the outcome of adult patients where the appendix is not seen on ultrasound, with preference for studies where there were no secondary signs of acute appendicitis (right lower quadrant free fluid, abscess, ileus, echogenic fat or regional lymphadenopathy). Original studies with at least 10 patients were included in the review. The reference standard included a combination of clinical follow-up, CT and/or pathology. Data synthesis was provided as a qualitative review of the existing literature. Results: Six studies were included in the review. The number of included patients range from 12 to 179 with a mean age of 29-38 years. Few studies reported the patient BMI. NPVs ranged from 80 to 90% for all indeterminate ultrasounds and 83 to 95% for studies where secondary signs of appendicitis were excluded (90 to 95% when non-surgical reference standards were included). Two studies reported NPVs of 96-100% when the pre-test probability was low. Conclusions: The NPV of indeterminate ultrasound for adult patients with right lower quadrant pain and no secondary signs of appendicitis is likely ≥90%. When combined with a low clinical suspicion, the NPV is likely >95%. The appropriateness of a subsequent CT indication when the appendix is not visualized on ultrasound should be determined on an individualized basis.

Background/Objectives: Autosomal dominant polycystic kidney disease (ADPKD) is a major cause of end-stage kidney disease (ESKD), accounting for approximately 5-10% of patients receiving dialysis worldwide. The large and numerous cysts in the liver and kidneys cause abdominal distention and poor appetite. Previous studies showed that renal arterial embolization (RAE) reduces total kidney volume (TKV), increases appetite, and improves quality of life. This article aims to evaluate the efficacy of RAE in increasing psoas muscle (PM) and paraspinal muscle (PS) mass in patients with polycystic kidney disease. Methods: A retrospective study was conducted from May 2016 to December 2020. Thirty-five patients with PKD and ESKD who received RAE were enrolled. The clinical data, including age, sex, body weight, abdominal circumference, and laboratory results, including albumin, creatinine, estimated glomerular filtration rate, and dialysis vintage, were collected. TKV was calculated with the ellipsoid formula method, and muscle mass was measured with bilateral PM and PS areas at the third lumbar level. The associated clinical, laboratory, and imaging data were compared before and after RAE. Results: There were 19 females and 16 males with a mean age of 59.9 for the final analysis. There were significant changes between baseline and 3-month, 6-month, 12-month after RAE, such as a decrease in TKV (4684 ± 3361 vs. 4079 ± 3456, 3675 ± 3401, 2459 ± 1706 mL, all p < 0.001), an increase in the PM area (12.6 ± 5.8 vs. 13.3 ± 5.7, 14.7 ± 6.9, 14.3 ± 7.1 cm², all p < 0.05), but no difference in body weight, body mass index, albumin, hemoglobin, creatinine, or estimated glomerular filtration rate. The increase in the PM and PS was more obvious in the sarcopenic group than in the non-sarcopenic group in the 12-month follow-up (p = 0.001 and 0.016 vs. p = 0.205 and 0.259). Conclusions: RAE effectively reduces TKV, increases PM and PS mass, and serves as a candidate to reverse muscle loss in patients with PKD.

Background: Sarcopenia is a clinically important complication of chronic liver disease (CLD), but its underlying mechanisms may differ according to disease etiology. Quantitative MRI biomarkers, including proton density fat fraction (PDFF) and magnetic resonance elastography (MRE), may help characterize etiology-specific patterns of muscle loss. This study aimed to explore etiology-specific associations between MRI-derived biomarkers and sarcopenia, with a particular focus on metabolic dysfunction-associated steatohepatitis (MASH) and viral hepatitis. Methods: This retrospective single-center study included 131 CLD patients (77 with MASH, 54 with viral hepatitis) who underwent MRI, including PDFF and MRE. Sarcopenia was defined by L2 skeletal muscle index thresholds (<42 cm²/m² for men, <38 cm²/m² for women). Muscle identification was performed by automatic threshold-based segmentation by a single observer. Multivariable logistic regression analyses incorporating interaction terms were performed to evaluate whether associations between MRI biomarkers and sarcopenia differed by etiology. Results: Sarcopenia was present in 56% of patients. In the overall cohort, older age (OR = 1.05, p = 0.01), lower PDFF (OR = 0.93, p = 0.03), and lower liver stiffness (OR = 0.51, p = 0.006) were independently associated with sarcopenia. A significant interaction between BMI and disease etiology was observed (p = 0.02). Subgroup analyses suggested that in MASH, sarcopenia was associated with aging, hepatic fat depletion, and lower stiffness. In contrast, in viral hepatitis, it tended to be associated with higher stiffness and lower BMI. Conclusions: MRI-derived hepatic fat and stiffness reflect distinct etiologic patterns of sarcopenia in CLD-metabolically depleted in MASH and fibrosis-related in viral hepatitis. These findings suggest that sarcopenia in MASH and viral hepatitis may reflect different underlying phenotypic patterns, highlighting the importance of considering disease etiology in imaging-based sarcopenia assessment. The results should be interpreted as hypothesis-generating and warrant validation in prospective studies.

Background: Patient-based real-time quality control (PBRTQC) enables continuous analytical monitoring using routine patient results; however, the performance of classical statistical process control (SPC) algorithms varies across analytes, and standardized evaluation and optimization strategies remain limited. To address this gap, this study compared three SPC algorithms-moving average (MA), moving quantile (MQ), and exponentially weighted moving average (EWMA)-within a unified preprocessing framework and proposed a composite performance metric for parameter optimization. Methods: Routine patient results from six laboratory analytes were analyzed using a standardized "transform-truncate-alarm" PBRTQC workflow. Simulated systematic biases were introduced for model training, and algorithm-specific parameters were optimized using a composite metric integrating sensitivity, false-positive rate (FPR), and detection delay. Performance was subsequently evaluated on an independent validation dataset. Results: For most analytes, all three SPC algorithms demonstrated robust PBRTQC performance, achieving high sensitivity (generally ≥0.85), very low false-positive rates (<0.002), and rapid detection of systematic bias. EWMA showed more balanced performance for thyroid-stimulating hormone (TSH), with improved sensitivity and shorter detection delay compared with MA and MQ. The proposed composite metric effectively facilitated clinically meaningful parameter optimization across algorithms. Conclusions: Under a unified preprocessing framework, classical SPC algorithms provided reliable PBRTQC performance across multiple analytes, with EWMA offering advantages for more variable measurements. The proposed composite metric supports standardized, practical, and analyte-adaptive PBRTQC implementation in clinical laboratories.