Diagnostics最新文献

Patients presenting with abdominal pain require expedited diagnosis and treatment. Computed tomography (CT) scans, which are frequently ordered in the inpatient and emergency departments, have high diagnostic sensitivity and specificity. However, CTs are costly, have radiation exposure, can create hospital workflow inefficiencies, and create a potential safety risk with patient transport. Point-of-care ultrasound (POCUS) use is growing as an efficient, safe, and bedside assessment tool for diagnosing and treating gastrointestinal (GI) pathologies. This manuscript synthesizes key sonographic findings and techniques for a series of important GI pathologies that physicians should recognize: diverticulitis, hernia, appendicitis, intussusception, and intra-abdominal mass.

Background/Objectives: Histological examination constitutes a fundamental methodology for establishing the vitality of a lesion. In cases where the corpse is preserved for an extended duration of time prior to the post-mortem evaluation, particularly if the body has undergone freezing and thawing cycles, post-mortem changes may obscure or alter evidence of traumatic injuries. Consequently, the reliability of hematoxylin and eosin (H&E) staining for the reliable detection of intralesional erythrocytes in suspected traumatic fatalities is potentially severely compromised. The primary objective of this study is to rigorously underscore the detrimental influence of freeze-thaw processes on histologic examination and to advocate the indispensable incorporation of immunohistochemical analysis, specifically employing anti-human glycophorin A antibodies, to ascertain the presence of red blood cells. Methods: Skin samples from 10 autopsy cases were subjected to serial freeze-thaw cycles and analyzed using anti-human Glycophorin A (GPA) immunohistochemistry staining to evaluate skin lesion vitality in freeze-thawed tissues compared to fresh controls. Results: Results indicated that while H&E reliability was limited to fresh tissue, anti-GPA staining remained stable across all freeze-thaw cycles. Conclusions: Forensic pathologists must remain acutely cognizant of the potential artifacts produced by freeze-thaw cycles. In these cases, anti-GPA staining proved to be a reliable asset for evaluating the vitality of a lesion.

Background/Objectives: Efficient allocation of hospital resources is crucial in managing lower extremity trauma. Selected patients with stable injuries may not require inpatient hospitalization while awaiting surgical fixation. This study describes the feasibility and safety of a structured Home-based Preoperative Management (HPM) pathway for such patients. Methods: We conducted a retrospective, single-center observational study of 187 adult patients with isolated lower extremity fractures managed with HPM between 2019 and 2022. All patients were discharged home from the Emergency Department with standardized instructions, immobilization, anticoagulation, and planned follow-up. No comparator group was included. Results: Of 187 patients (mean age 49.7 y), 23 patients (12.3%) returned to the Emergency Department during the preoperative waiting period. The mean time from Emergency Department presentation to surgery was 8.5 days. Overall, 164 patients (87.7%) completed the preoperative waiting period at home without requiring an additional Emergency Department visit. Within one year after surgery, 51 patients (27.3%) presented to the Emergency Department; 29 of these visits (56.9%) were considered surgery-related. Patients who returned to the Emergency Department before surgery had a higher likelihood of postoperative Emergency Department visits within one year compared with those who did not (69.6% versus 21.3%, p < 0.001). Time to surgery was not associated with postoperative Emergency Department visits (p = 0.763). Conclusions: In this retrospective cohort, Home-Based Preoperative Management was feasible and appeared safe for carefully selected patients with lower extremity trauma. Most patients were able to await surgery at home without unplanned Emergency Department visits. Given the absence of a comparator group, no conclusions regarding comparative effectiveness or superiority over inpatient management can be drawn.

Background and Clinical Significance: Metabolic alkalosis is the most common acid-base disturbance in hospitalized and critically ill patients, with extreme alkalemia (pH > 7.65) linked to mortality rates exceeding 80%. Jejunostomy-related intestinal losses can lead to severe hypochloremic metabolic alkalosis, a rare but life-threatening condition. This case report highlights the clinical presentation, diagnostic approach, physiopathology, management, and outcome of a patient with extreme metabolic alkalosis induced by a temporary jejunostomy. Case Presentation: We report the case of a 72-year-old female who presented with severe alkalemia, seizures, and signs of profound dehydration following extensive enteral resection with end-jejunostomy. Serial arterial blood gas and serum electrolyte monitoring guided treatment, prompting the initiation of an aggressive chloride-based rehydration protocol. Concurrent evaluations revealed renal impairment and an intercurrent infection. Initial tests revealed extreme metabolic alkalosis (pH 7.757, HCO₃^- 72.7 mmol/L) with severe hypochloremia, hypokalemia, and acute kidney injury. Administration of approximately 5 L of isotonic saline with added potassium chloride over the first 6 h led to rapid improvement in pH to near-normal levels. Over the following six days, continued electrolyte correction restored physiological acid-base balance and renal function. After achieving metabolic stabilization, the jejunostomy was surgically reversed. Conclusions: Extreme metabolic alkalosis secondary to jejunostomy is rare but potentially fatal. Prompt recognition of chloride-responsive alkalosis and rapid initiation of aggressive volume and electrolyte replacement are essential for survival. Definitive management requires addressing the underlying cause, such as restoration of gastrointestinal continuity, to prevent recurrence.

Background: Antiphospholipid syndrome (APS) is diagnosed by characteristic clinical manifestations supported by positivity for lupus anticoagulant, anticardiolipin, and anti-β2-glycoprotein I antibodies. However, a proportion of patients, especially those with systemic lupus erythematosus, remain seronegative despite high clinical suspicion. Anti-phosphatidylserine/prothrombin antibodies (aPS/PT) have emerged as potential biomarkers in this setting. We conducted an expert perception-based Health Technology Assessment (HTA) to evaluate the clinical, ethical, and organizational impact of implementing aPS/PT testing. Methods: A structured HTA was performed across five domains: safety, perceived efficacy, equity, ethics, and organizational implications. A survey was distributed to 110 APS specialists; 50 experts contributed responses (45.5% response rate; 66% clinicians, 18% laboratory personnel, 8% nurses, 8% administrative/other). For each domain, Z-scores were calculated to compare current diagnostic practice (AS IS) with a scenario integrating aPS/PT testing (TO BE). Correlation analyses explored relationships across domains. Results: Across all five domains, the TO BE scenario scored substantially higher than standard practice. The largest improvements were observed in perceived diagnostic efficacy (ΔZ = +2.65) and safety (ΔZ = +2.03), followed by equity (ΔZ = +2.25), ethical/social impact (ΔZ = +1.96), and organizational feasibility (ΔZ = +1.61). Perceived diagnostic effectiveness showed a strong positive correlation with both equity (r = 0.70, p < 0.001) and ethics (r = 0.67, p < 0.001). Participants consistently rated the assay as safe, clinically useful, equitable, and organizationally easy to introduce in routine laboratory workflows. Conclusions: Experts perceived the addition of aPS/PT testing as a meaningful enhancement to APS diagnostics, particularly for SLE patients who are seronegative on conventional assays. Its favorable profile across all HTA domains supports further evaluation in prospective cohorts and consideration for integration into future diagnostic algorithms.

Background/Objectives: We sought to examine serum concentrations of Gremlin 1 and BMP 4 in pregnant women diagnosed with gestational diabetes mellitus (GDM) compared to healthy pregnant controls while also exploring potential associations with body mass index (BMI) and gestational age. Methods: Our cohort comprised 72 pregnant women-35 with GDM and 37 healthy controls. We measured serum levels of Gremlin 1 and BMP 4 and stratified participants according to BMI categories. Statistical comparisons employed appropriate tests for group differences, and we used Spearman's correlation to evaluate relationships among BMI, gestational age, fetal birth weight, HOMA-IR, Triglyceride-Glucose Index (TyG), QUICKI and biomarker levels. Results: BMI, triglyceride, HOMA-IR, and TyG were significantly higher, and QUICKI was lower in the GDM group compared with controls. Although Gremlin 1 levels were lower and BMP 4 levels and fetal birth weight were higher in the GDM group, these differences were not statistically significant. In BMI stratified analysis, both biomarkers were higher in the normal weight group, without significant differences. BMI correlated negatively with Gremlin 1 and BMP 4, and gestational age correlated negatively with both biomarkers. A strong positive correlation was observed between Gremlin 1 and BMP 4. Conclusions: The biomarker patterns observed in GDM appear distinct from those reported in diabetes mellitus, possibly reflecting pregnancy-related physiological weight gain and shifts in body composition. The strong positive relationship between Gremlin 1 and BMP 4 lends support to the notion of coordinated regulatory pathways, potentially indicating cellular resistance to BMP 4's pro-adipogenic actions. Larger longitudinal investigations incorporating detailed body composition assessments will be essential to elucidate their roles in gestational metabolic adaptations and their potential utility for GDM risk stratification.

Background/Objectives: This study aimed to develop a fully automatic method for liver tumor segmentation based on our previously developed gradient-enhanced network G-UNETR++. Methods: The proposed method consists of segmentation of the full liver region from computed tomography (CT) images using G-UNETR++, masking the CT images with the extracted liver region to exclude non-liver regions, and liver tumor segmentation from the masked CT images, also using G-UNETR++. To train and evaluate the model, a total of 131 CT scans (97 for training, 20 for validation, and 20 for testing) from the publicly available LiTS dataset were used. Furthermore, another public dataset, the 3DIRCADb dataset consisting of 20 CT scans was used for cross-validation of the effectiveness and generalizability of our method. Results: Experimental results showed that our method outperformed state-of-the-art models over both the LiTS dataset and the 3DIRCADb dataset, with an average dice score of 0.844 and 0.832 over the two datasets, respectively. Conclusions: The proposed method is effective in clinical application to help physicians with liver tumor diagnosis and treatment.

Background/Objectives: To examine longitudinal changes in total retinal nerve fiber layer thickness (RNFLT) as the primary outcome measure in newly diagnosed pediatric idiopathic intracranial hypertension (IIH) patients using Spectral-Domain Optical Coherence Tomography (SD-OCT) at one-year follow-up. Methods: This is a prospective observational cohort study with cross-sectional control-group comparison. We included children with clinically definite IIH (IIH group) and children without papilledema and a normal neurological exam as a control group. Optic nerve parameters, including the primary outcome measure RNFLT and secondary outcome measures such as total retinal thickness (TRT) and optic disk area (ODA), were evaluated using SD-OCT (3D OCT-2000, Topcon, Topcon Corporation, Tokyo, Japan). Evaluations took place at presentation and, for the IIH group, before lumbar puncture (LP), at 1-day post-LP and at 1-, 3-, 6-, and 12-month follow-ups. Results: A total of 44 children aged 7-17 years were recruited (IIH group: N = 19, control group: N = 25). The mean baseline RNFLT was 133.1 ± 18.5 µm and 113.1 ± 8.7 µm for the IIH and control groups (p < 0.001), respectively. The IIH group showed a significant decline in RNFLT at the third-month follow-up. Between 3-month to one-year follow-up, mean total RNFLT showed an insignificant decline of 6 µm and did not differ from the RNFLT of the control group; however, segmental analysis of RNFLT showed a significant decline in the thickness of the nasal segments. At the one-year follow-up, two children had significant thinning of RNFLT at the superior quadrant. Intracranial pressure measured in the IIH group was directly correlated with RNFLT at the superior segment. Conclusions: SD-OCT is a useful non-invasive adjunct tool for the diagnosis and follow-up of IIH in children from primary school age onward. RNFL thickening resolved in most children at 3 months from IIH diagnosis. The study is constrained by specific methodological limitations, including a small sample size and non-contemporaneous evaluation of the control group compared with the IIH group. The significance of the segmental RNFL changes observed after one year should be further investigated with regard to long-term development, if possible with a larger prospective study that also considers the ganglion cell layer to explore for permanent axonal damage to the optic nerve.

Background: Although large-vessel vasculitis (LVV) can affect both the anterior and posterior intracranial circulation, routine neurosonographic follow-up, including transcranial duplex sonography, has not been established. We aimed to characterize patients with giant cell arteritis (GCA) and Takayasu arteritis (TAK) regarding the detection of progressive or new-onset inflammatory vessel changes by using neurosonography, and to assess the impact on medical or interventional treatment strategies. Methods: We retrospectively identified all patients with LVV treated at our neurological department between January 2015 and October 2025 with at least one neurosonographic follow-up examination. Baseline and follow-up sonographic data, clinical characteristics, medical therapy, and interventional treatments were analyzed. Results: In total, 21 LVV patients (GCA, n = 16; TAK, n = 5) underwent sonographic follow-up (GCA: median 28 (2-106) months, 4.5 (2-33) sonographic assessments; TAK: 75 (33-255) months, 14 (4-60) sonographic assessments). Isolated or combined, progressive or new-onset intra- and extracranial arterial disease was detected in seven of the 16 GCA patients (43.8%), of whom three (18.8%) presented with ischemic stroke. Medical treatment was adapted in four progressive cases. In two patients, additional interventional treatment was performed. Among TAK, two of five (40%) patients showed progressive sonographic changes, with one patient experiencing an ischemic stroke requiring endovascular treatment for progressive common carotid artery stenosis and one patient showing asymptomatic intracranial ICA involvement. Conclusions: Progressive and symptomatic involvement of intracranial carotid and vertebral arteries is a frequent finding in patients with LVV. These changes can be effectively detected through comprehensive neurosonographic follow-up, including transcranial ultrasound assessment.

Background/Objectives: IgA nephropathy (IgAN) is the most common primary glomerulopathy worldwide; it is characterized by a complex pathophysiology involving several inflammatory pathways. The Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway may be critical in this process. This study aimed to investigate the role of this pathway in IgAN and examine related tissue inflammatory markers. Methods: We analyzed 63 biopsy-confirmed patients with IgAN and performed immunohistochemical analysis on renal samples. A panel of antibodies targeting the JAK/STAT pathway, including JAK2, JAK3, p-STAT, STAT3, and MAPK/ERK, was used for this analysis. Six kidney tumor border samples were used as controls. Additionally, CD68 staining was used to evaluate tissue inflammation in the kidney biopsies. Results: Patients with IgAN showed a significantly higher cellular density of JAK3 staining at the glomerular level compared to controls, indicating JAK3 activation (p < 0.0002). Nevertheless, the correlation between JAK3 positivity in glomeruli and clinical parameters such as the initial and final estimated glomerular filtration rate (eGFR) and proteinuria was not statistically significant. Identical results were obtained with CD68+ macrophage counts in the glomerular compartment, which did not show any correlation with clinical parameters, while CD68+ tubulointerstitial staining demonstrated a significant correlation with both initial (p = 0.002) and final eGFRs (p = 0.0014), proteinuria (p = 0.010), and interstitial fibrosis (p < 0.001), as well as with renal disease progression (p = 0.005). Conclusions: Activation of the JAK/STAT pathway was observed in patients with IgAN relative to controls, notwithstanding the inability to assess the full pathway due to technical limitations. Macrophage CD68 staining in the tubulointerstitial area increased and was associated with clinical and laboratory parameters such as eGFR and proteinuria. Additionally, MEST-C histological parameters, such as segmental glomerulosclerosis (S0/S1), tubular atrophy/interstitial fibrosis (T0/T1/T2), and crescents (C0/C1/C2), were associated with a higher number of CD68+ cells.