Citations

Background: Acquired and congenital limb length discrepancies often coexist with deformities of the distal femur. Lengthening of the femur along its anatomic axis changes the limb's mechanical alignment. Angular correction and lengthening can be achieved at the same site if a retrograde lengthening nail is used with a specific preoperative planning method (“reverse planning”) which permits patient-specific selection of the final mechanical axis. Methods: A consecutive cohort series of children, adolescents, and young adults (mean 15.6 ± 4.8 years) undergoing retrograde implantable femoral lengthening between the years 2011 and 2024 were analyzed. Surgical details, lengthening parameters, Limb Lengthening and Reconstruction Society (LLRS)–AIM index, accuracy of final correction, and complications were reviewed and classified. Patients were eligible only if the distal femoral physis was closed. Results: Seventy-three lengthening were eligible in the study period. Average lengthening was 4.2 ± 1.4 cm (range 2.0-8.0 cm), and consolidation index was 39.4 ± 21.9 days/cm. Deformities and length discrepancies were moderately complex, with a mean LLRS AIM score of 6 (range 1-13). Complication rates were similar to previous reports of intramedullary femoral lengthening, comparable between congenital (12 of 31, 39%) and acquired etiologies (16 of 42, 38%). Preoperative coronal alignment ranged from 14° varus to 20° valgus, while final coronal alignment was 0.4° ± 3.4° of neutral (range 7° valgus to 13° varus). Coronal deformities up to 20° and sagittal deformities up to 23° were corrected acutely at the lengthening site. Conclusions: Retrograde intramedullary femoral lengthening with acute deformity correction at the same site is an alternative to antegrade lengthening with separate osteotomy of the distal femur in children and adolescents. The reverse planning method allows reproducible length and deformity correction at the same location. Specific intraoperative technical adjuncts are used to achieve and maintain the desired alignment. Level of Evidence: Diagnostic Level IV . See Instructions for Authors for a complete description of levels of evidence.

Background: Recurrent Clostridioides difficile infection (rCDI) disrupts health-related quality of life (HRQoL), often causing debilitating symptoms, emotional distress, and social withdrawal. Fecal microbiota, live-jslm (RBL; REBYOTA ® ) is approved by the FDA to reduce CDI recurrence. While the burden of rCDI is well established, less is known about the patient experience after RBL treatment and its impact on HRQoL. Objectives: To explore the burden of rCDI on HRQoL, and any improvements in symptoms and impacts after RBL administration by colonoscopy. Design: A qualitative sub-study embedded in the CDI-SCOPE phase IIIb clinical trial (NCT05831189). Methods: Qualitative interviews were conducted with 30 trial participants approximately 8 weeks after RBL treatment. Interviews were conducted using a semi-structured discussion guide; they were audio-recorded, transcribed verbatim, and thematically analyzed. Results: Thirty of 41 trial participants (73%) took part in the qualitative interviews (July 2023–September 2024). Participants (mean age 59 years; 87% female) had experienced multiple prior rCDI episodes. Before RBL treatment, participants reported severe symptoms, including diarrhea (30/30; 100%), abdominal pain (21/30; 70%), and fatigue (14/30; 47%), which negatively affected daily life, social interactions, and emotional health. Eight weeks after RBL treatment, no participants reported a recurrence. Diarrhea symptoms resolved (17/30; 57%) or improved (13/30; 43%) for all participants, typically within 1 month. Average severity scores for diarrhea declined markedly (from 8.9 to 1.3). Every participant (100%) reported improved ability to engage in daily activities; nearly all (29/30; 97%) described positive changes to social life/relationships, and 77% (23/30) reported improved emotional well-being. Conclusion: RBL administered via colonoscopy provided rapid, meaningful relief from rCDI symptoms, and due to symptom improvements, many participants reported that they were able to resume daily life. These findings highlight the broader value of RBL in restoring HRQoL and overall well-being. Trial registration: ClinicalTrials.gov: NCT05831189.

Pleomorphic adenoma of the breast is a rare tumor, with fewer than 100 patients described in the English literature, mainly as case reports and small case series. Histologically, breast pleomorphic adenoma resembles its more common salivary gland counterpart; however, it can present diagnostic challenges, particularly on core needle biopsy and fine-needle aspiration. The differential diagnosis includes benign and malignant tumors, which carry major treatment implications, from the extent of surgical intervention to the potential use of chemotherapy. Herein we describe a tumor that was initially diagnosed as a triple-negative matrix-producing metaplastic carcinoma, but a secondary review led to the diagnosis of pleomorphic adenoma of the breast. Prior to the secondary review, the patient underwent an excisional biopsy, sentinel lymph node biopsy, and one round of chemotherapy. This report adds to the limited literature surrounding this entity and discusses the differential diagnosis along with histopathologic and immunohistochemical findings that aid in the diagnosis and reviews the radiologic findings observed throughout the patient's clinical course. This patient underscores the difficulty of diagnosis and highlights the need for multidisciplinary consideration and communication to avoid overtreatment.

Abstract Objective β-Catenin–mutated hepatocellular adenomas (HCAs) carry an increased malignant transformation risk and are screened by interpreting glutamine synthetase (GS) and β-catenin by immunohistochemistry (IHC). Our study aims to assess GS and β-catenin interpretation guidelines for applicability and reproducibility in predicting high-risk HCA and other relevant molecular alterations. Methods Hematoxylin and eosin (H&E), β-catenin, GS, and CD34 stains from 75 HCAs were interpreted by three pathologists using Method A (GS interpretation: negative, perivenular patchy, map-like, diffuse, and indeterminate) and Method B criteria (similar GS interpretation scheme based on a recent publication, with and without CD34 expression patterns). Ease of application and interpretation confidence level were assessed. High-risk IHC was defined as nuclear β-catenin and/or diffuse homogeneous GS. Molecular testing was performed on a subset of HCAs and controls. Results There were 57 resections and 18 biopsy specimens examined. Methods A and B (GS only) were rated as easy to apply, with high interpretation confidence (≥90% using both methods). Consensus rate was comparable in biopsy specimens (100% for both methods) and resections (88% for Method A, 93% for Method B). While the same cases were stratified into high-risk GS categories using both systems, clinically significant genetic alterations (TERT promoter, EGFR, MTOR, and TP53) were identified in 25% of cases stratified as not high risk by IHC. Conclusions Both methods have a similar ease of application and level of interpretation confidence, and they also detected β-catenin mutations as expected. Other relevant molecular alterations associated with risk of neoplastic progression and/or bleeding were detected in 25% of HCAs with the non-high-risk IHC phenotype, suggesting the value of molecular testing in this subset.

ABSTRACT Background Chronic myelomonocytic leukemia (CMML) is largely a disease of individuals older than 50 years; its occurrence in patients aged 50 years and younger is rare. The authors sought to characterize the clinicopathologic features and genetic profile of young‐onset (age 50 years and younger) CMML (y‐CMML) compared with older onset (older than 50 years) CMML (o‐CMML). Methods The authors conducted a multi‐institutional study of 32 patients with y‐CMML and 119 patients with o‐CMML, analyzing clinical, morphologic, cytogenetic, and molecular data. Results Patients who had y‐CMML frequently presented with splenomegaly (59% vs. 11%; p < .001) and hepatomegaly (25% vs. 2%; p < .001) compared with those who had o‐CMML. Although the overall incidence of cytogenetic abnormalities was similar, patients who had y‐CMML exhibited distinct mutational patterns. PTPN11 mutations were significantly more common in y‐CMML (13% vs. 3%; p = .034) than in o‐CMML, whereas TET2 (6% vs. 57%; p < .001) and SRSF2 (16% vs. 46%; p = .002) mutations were significantly less frequent. In addition, multi‐hit TET2 (6% vs. 34%; p = .002) and TET2‐SRSF2 (3% vs. 29%; p = .003) co‐mutations were rare in y‐CMML. However, the molecular differences did not affect the CMML‐specific risk‐stratification categories because the clinical outcomes, including overall survival and leukemia‐free survival, did not differ between the two groups. Conclusions CMML in patients aged 50 years and younger is rare and presents with unique clinical and mutational features, suggesting a distinct pathogenesis.

Purpose of review Cardiac amyloidosis is an infiltrative cardiomyopathy with characteristic echocardiographic findings. Echocardiography is the initial imaging test to identify restrictive cardiomyopathies, and timely diagnosis is important for treatment and prognosis. This review outlines key echocardiographic “red flags,” structural and functional findings, and emerging diagnostic tools that enhance early recognition and monitoring of cardiac amyloidosis. Recent findings Classic echocardiographic red flags for cardiac amyloidosis include increased ventricular wall thickness, biatrial enlargement, pericardial effusion, and a granular myocardial appearance. Tissue Doppler imaging shows reduced mitral annular velocities, while advanced disease presents with restrictive filling patterns. Global longitudinal strain with apical sparing is a hallmark finding that distinguishes cardiac amyloidosis from other cardiomyopathies. Left atrial strain has been proposed as a prognostic marker for thromboembolism in cardiac amyloidosis. Evidence shows variability in strain measurements across different vendors, which is an important consideration when comparing results between institutions in both research and clinical practice. Echocardiography can be used in conjunction with multimodal imaging techniques in order to monitor disease progression. Summary Echocardiography is the initial diagnostic test of choice and several findings can suggest cardiac amyloidosis. Advances in echocardiographic techniques have enabled earlier detection of cardiac involvement and now play a central role in both diagnosis and ongoing treatment monitoring.