Pulmonary valve insufficiency most commonly occurs following various precordial interventions, including repair of tetralogy of Fallot, balloon dilatation for pulmonary stenosis, and surgical or percutaneous treatment for pulmonary atresia with intact ventricular septum. Isolated congenital pulmonary valve insufficiency is rare, and insufficiency secondary to myxomatous degeneration of the pulmonary valve is even rarer. We report the case of a 16-year-old female with severe pulmonary valve insufficiency and aneurysmal dilatation of the pulmonary artery caused by myxomatous degeneration of the pulmonary valve. The patient underwent minimally invasive surgical treatment, and no regurgitation was observed at one-year follow-up.

BackgroundUltrasound-guided foam sclerotherapy (UGFS) is a minimally invasive procedure recommended for the management of chronic venous disease, particularly for varicose veins and saphenous trunk insufficiency, although rare, systemic effects may occur. The study aims to evaluate the impact of UGFS on pulmonary artery pressure and right ventricular function through indirect echocardiographic measurements.Material and MethodsA total of 50 patients with incompetent great saphenous veins underwent UGFS. Preoperative assessments and echocardiographic monitoring of right heart function were conducted at baseline (T0), 5 min (T5), 10 min (T10), and 15 min (T15) after FS injection. Primary endpoint included changes in systolic pulmonary artery pressure (PAPs), while secondary endpoints focused on tricuspid annular plane systolic excursion (TAPSE) and right ventricular diameter (RVD1). Statistical analyses were performed using paired t-tests and linear mixed models.ResultsThe results indicated a significant increase in PAPs from T0 to T10 (mean increase of 8.13 mmHg, p < .01) and T5, with a reduction at T15 that remained above baseline (mean difference of 3.01 mmHg, p < .01). TAPSE showed a significant increase at T15 compared to T0 (mean increase of 1.6 mm, p = .04). No significant changes were observed in RVD1. Importantly, no local or systemic complications occurred, and all patients remained asymptomatic.ConclusionUGFS is a safe and effective treatment for chronic venous disease, with transient and benign alterations in right heart hemodynamic likely attributable to foam degradation products. Further studies with larger cohorts and longer follow-up are warranted to enhance understanding of the long-term effects of UGFS on pulmonary hemodynamic and right ventricular function.

Charcot-Marie-tooth disease type 4D (CMT4D) is an early-onset, severe autosomal recessive demyelinating neuropathy, caused by mutations in the N-myc downstream-regulated gene 1 (NDRG1). Because of its rarity and predominance among specific ethnic groups, clinical knowledge remains limited. We report the case of two siblings of Romani ancestry, a 38-year-old man and a 40-year-old woman, with homozygous NM_006096.4:c.442C > T, p.(Arg148*) variant, and provide a review of the current literature.Both patients presented with severe distal-proximal sensorimotor neuropathy, muscle weakness and atrophy, generalized areflexia, and sensorineural deafness typical of CMT4D. Notably, they exhibited previously unreported features including severe dysphagia requiring PEG tube placement, bilateral vocal cord paralysis causing respiratory insufficiency necessitating non-invasive ventilation, and cognitive delay. Visual system involvement was demonstrated through abnormal visual evoked potentials with reduced P100 amplitude and absent responses, expanding the recognized phenotypic spectrum.Our systematic literature review identified 26 articles describing 72 patients with CMT4D. Twenty-two pathogenic NDRG1 variants were documented, with p.(Arg148*) being most frequent (64% of patients), predominantly in Roma populations. The median age of onset was 7 years, 96% of patients presented with lower limb involvement and all presented skeletal deformities were universal, including pes cavus (67%), claw hand (40%), and scoliosis (33%). Hearing impairment affected 61% of patients, while visual system involvement occurred in 17%.This study expands the clinical spectrum of CMT4D by documenting novel manifestations including severe bulbar dysfunction and respiratory involvement. These findings emphasize the importance of comprehensive assessment including swallowing evaluation, vocal cord examination, and pulmonary function testing in CMT4D patients, potentially impacting clinical management and prognosis.

Computed tomography pulmonary angiography (CTPA) is the gold standard for pulmonary embolism (PE) diagnosis, but patients with iodinated contrast allergies or renal insufficiency are often ineligible. CT-derived perfusion (CTP) is a novel, non-contrast method to quantify pulmonary perfusion from an inhale/exhale CT image pair (4DCT). The resulting CT-P information can be used to identify hypo-perfused regions associated with PE. This pilot study introduces a thresholding approach that estimates the number of lung lobes with perfusion deficits according to optimally selected CTP thresholds. The number of lobes indicated as low-functioning provides a score to categorize patients as PE-positive, negative, or inconclusive. We trained and validated the model on a retrospective dataset of 123 suspected PE patients, achieving 72% accuracy, 75% sensitivity, and 69% specificity, with 17% of cases inconclusive. To our knowledge, this is the first PE diagnostic model from non-contrast 4DCT, showing the feasibility of non-contrast PE diagnosis strategies.

Background and Objectives: To identify predictors of pulmonary infection in critically ill patients after abdominal surgery and to develop an early postoperative risk stratification model. Materials and Methods: Medical records of ICU patients after abdominal surgery (January 2016-June 2024) with Acute Physiology and Chronic Health Evaluation II (APACHE II) scores ≥10 were retrospectively analyzed. Patients were categorized according to the presence or absence of pulmonary infection. Candidate variables were screened using LASSO regression, followed by multivariate logistic regression to identify independent predictors. A nomogram-based prediction model was constructed and internally validated. Results: Among 4852 patients, 390 (8.0%) developed pulmonary infections. Overall, 8 independent predictors were identified: Male sex (vs. female) (OR 1.509, 95% CI: 1.091-2.087, p = 0.013), chronic obstructive pulmonary disease (OR 4.139, 95% CI: 2.872-5.966, p < 0.001), atrial fibrillation (OR 2.320, 95% CI: 1.366-3.939, p = 0.002), hypertension (OR 1.869, 95% CI: 1.372-2.539, p < 0.001), chronic renal insufficiency (OR 2.412, 95% CI: 1.143-5.091, p = 0.021), preoperative total bilirubin (OR 1.003, 95% CI: 1.001-1.004, p = 0.002), rectal surgery (OR 0.354, 95% CI: 0.151-0.830, p = 0.017), and invasive mechanical ventilation duration > 6 h (OR 2.206, 95% CI: 1.628-2.990, p < 0.001). The nomogram demonstrated good discrimination (AUC: 0.734 95% CI: 0.698-0.770) and calibration. Conclusions: This study identified 8 independent predictors of pulmonary infection and developed an internally validated early postoperative risk stratification model with satisfactory performance. The model may assist clinicians in identifying high-risk patients and guiding timely preventive strategies in ICU practice.

Background/Objectives: Pancreatic surgery has always been associated with a variety of complications. In the current study, we analyzed more than 800 consecutive pancreatic resections and tried to find clinically relevant routine parameters that could predict adverse outcomes at an early stage. We focused on hepato-pancreato-biliary routine parameters, especially on liver enzymes, because so far there are no studies showing any correlation between postoperatively elevated liver enzymes and postoperative complications. Methods: All pancreatic resections of a tertiary care center from 2003 until 2025 were documented prospectively and analyzed retrospectively. Data analysis comprised descriptive as well as inferential statistical analyses. Results: Laboratory values from 808 consecutive resections were analyzed for the first week after surgery. Elevated aspartate aminotransferase (AST) was associated with postoperative hemorrhage on POD 1, pulmonary insufficiency on POD 1 to 4, other complications on POD 1 to 5, MODS on POD 2 to 4, and development of pneumonia on POD 3 to 5. Elevated alanine aminotransferase (ALT) was associated with pulmonary insufficiency on POD 1 to 4 and POD 6, pneumonia, and other complications on POD 3. It was also associated with MODS on POD 1 to 6. Bilirubin elevated preoperatively and on POD 1 could not really predict any complication. In this study, we can also confirm that elevated amylase and lipase can predict complications. Conclusions: This is the first study that shows a correlation between postoperatively elevated AST and ALT and the development of postpancreatectomy complications. Elevated AST and ALT, especially in combination with postoperative pancreatitis or at least elevated pancreatic enzymes, can identify patients at risk for life-threatening conditions and might be useful to decrease failure-to-rescue patients.

Venous thromboembolism (VTE), comprising deep vein thrombosis and pulmonary embolism, is an important but under-recognised complication in neuromuscular diseases. In adults, emerging epidemiological data suggests increased VTE occurrence in conditions such as Amyotrophic Lateral Sclerosis, myotonic dystrophy, myasthenia gravis, inflammatory neuropathies, inflammatory myopathies, and POEMS syndrome. This heightened risk reflects not only disease-related immobility but also disorder-specific biological mechanisms, including inflammation, endothelial dysfunction and cardiomyopathy-related stasis. Therapies such as corticosteroids, IVIG-related hyperviscosity, long-term central venous access, perioperative immobility, critical illness, and complex orthopaedic procedures have prothrombotic effects. Despite this multifactorial risk profile, disease-specific guidance for thromboprophylaxis is lacking, and current practice relies heavily on extrapolation from general medical and surgical recommendations rather than data derived from neuromuscular cohorts. In children and adolescents, the VTE burden is less well-characterised, but events have been reported in Duchenne and Becker muscular dystrophy, congenital myopathies, and spinal muscular atrophy particularly with advanced motor impairment, severe cardiomyopathy, ventilatory insufficiency, and prolonged hospitalisation. Beyond venous events, selected neuromuscular disorders also exhibit increased arterial thrombosis risk. Myotonic dystrophy and dystrophinopathies are associated with cardiomyopathy and arrhythmia that predispose to systemic embolism and stroke, while inflammatory myopathies may demonstrate arterial events related to vasculitic or endothelial processes, although overall evidence remains limited. This review summarises available empirical and epidemiological evidence on venous and arterial thrombosis across adult and paediatric neuromuscular disorders, outlines disease-specific mechanistic pathways, examines treatment-related contributors, and highlights key evidence gaps that must be addressed to guide rational and targeted prophylaxis strategies in this complex, heterogeneous population.

With excellent outcomes achievable using endovenous treatment of refluxing truncal veins, extension of ablative material and/or thrombus into adjacent deep veins is an important complication which can lead to deep venous thrombosis (DVT) or pulmonary embolism (PE). Previous work has used poorly defined terminology to identify patients with material in the deep venous system following ablation, limiting synthesis of results and the formation of treatment guidelines. We propose the term Post-ablation Deep vein Material Extension (PDME) to identify cases of ablative material and/or thrombus in the adjacent deep veins, with sub-categorisations according to mode of ablation used. PDME is a distinct entity from DVT, with often a shorter clinical course, few symptoms reported by patients, and possibility of resolution without treatment in some cases. This article explores the different forms of PDME, their classifications, and possible aetiology. A precise classification is proposed to ensure transparency in future research into this area.

Repair of Tetralogy of Fallot (TOF) has significantly improved long-term mortality. A consequence of repair is pulmonic valve insufficiency, leading to cardiac remodeling in adulthood, which can often remain asymptomatic for an extended period. This emphasizes the importance of consistent follow-up with an adult congenital heart disease physician to evaluate for these pathophysiologic consequences. We present a case of a young female patient with a history of TOF status post-repair who was lost to follow-up.