World Journal of Clinical Cases最新文献

Intensive care unit (ICU) acquired sarcopenia and myosteatosis are increasingly recognized complications of critical illness, characterized by a rapid loss of skeletal muscle mass, quality, and function. These conditions result from a complex interplay of systemic inflammation, immobilization, catabolic stress, mitochondrial dysfunction, and immune dysregulation, often culminating in impaired recovery, prolonged hospitalization, and increased long-term mortality. First identified in survivors of sepsis and prolonged mechanical ventilation, these muscle abnormalities were initially described using computed tomography-based assessments of muscle area and density. Subsequent advances in imaging, biomarker discovery, and functional testing have enabled earlier detection and risk stratification across diverse ICU populations. While nutritional optimization and early mobilization form the cornerstone of current prevention and treatment strategies, the emergence of novel approaches, including automated artificial intelligence-based screening, neuromuscular electrical stimulation, and targeted pharmacologic therapies, has broadened the clinical scope of interventions. Despite their significant prognostic implications, ICU-acquired sarcopenia and myosteatosis remain under-recognized in routine critical care practice. This mini-review aims to synthesize current knowledge regarding their pathophysiology, available diagnostic modalities, prognostic relevance, and the evolving landscape of therapeutic strategies for long-term functional recovery in critically ill patients.

Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous intermediate-grade soft tissue tumor characterized by COL1A1::PDGFB fusion in most cases. This fusion drives tumorigenesis and forms the basis for imatinib treatment, which acts by blocking platelet-derived growth factor receptor-beta kinase activity. Apart from this canonical fusion, there is an expanding spectrum of rare fusions, including COL6A3::PDGFD, EMILIN::PDGFD, TNC::PDGFD, etc., through molecular profiling. These atypical rearrangements may be encountered in morphologically classic DFSP, unusual anatomic sites, or diagnostically challenging variants such as fibrosarcomatous DFSP. Their recognition is clinically relevant, as they may influence tumor biology, response to targeted therapy, and eligibility for clinical trials. This newly documented DFSP involving the lacrimal sac was initially misdiagnosed as a solitary fibrous tumor, emphasizing the diagnostic pitfalls in anatomically constrained regions and the importance of integrated diagnosis combining histology, immunohistochemistry, and molecular testing. In this editorial commentary, we briefly highlight the ever-growing genomic landscape of DFSP, report rare fusions and their biological implications, and examine the role of expanded molecular diagnostics in refining diagnosis, guiding therapy, and informing prognosis. Incorporating comprehensive fusion analysis into routine workup may be critical for accurate classification, especially in unusual presentations where reliance on morphology alone risks misdiagnosis.

Background: Erythrodermic psoriasis (EP) is a rare and life-threatening form of psoriasis associated with significant morbidity and mortality. Systemic immunosuppressive therapies are often required but may predispose to opportunistic infections. Disseminated herpes simplex virus type-1 (HSV-1) is an unusual complication in otherwise immunocompetent patients and has not been reported in association with ixekizumab therapy for EP.

Case summary: We describe a 49-year-old man with longstanding severe plaque psoriasis, liver cirrhosis, and bipolar disorder who developed EP involving > 90% of body surface area [Psoriasis Area and Severity Index (PASI) 45]. Following initial stabilization, he was admitted to the intensive care unit (ICU) with hemodynamic instability, leukocytosis with eosinophilia, and diffuse desquamation. Ixekizumab was initiated with high-dose topical clobetasol. During his ICU stay, he developed recurrent bacteremias and neurologic decline (Glasgow Coma Scale 7/15), followed by the appearance of widespread vesicles and hemorrhagic crusts. HSV-1 infection was confirmed by polymerase chain reaction (PCR). Immunosuppressive therapy was withheld, and intravenous acyclovir was started, leading to progressive improvement. After ten days, ixekizumab was reintroduced with careful monitoring, resulting in marked clinical improvement (PASI 9.7 at six weeks). The patient remained stable on long-term follow-up with oral acyclovir prophylaxis.

Conclusion: This case highlights the diagnostic and therapeutic challenges of managing EP in the setting of biologic therapy. Disseminated cutaneous HSV-1 should be considered in immunosuppressed patients presenting with new vesicular eruptions, and prompt PCR testing with early antiviral therapy is essential. A multidisciplinary approach is critical to balance immunosuppression for disease control with infection risk.

Thrombus burden significantly increases risk of no-reflow and microvascular obstruction and subsequently impacts outcomes in acute myocardial infarction (AMI). While initial studies suggested benefits of thrombus aspiration (TA), recent large trials have questioned its routine use. This review examines the role of thrombectomy in the management of AMI, focusing on its potential to improve myocardial perfusion and mitigate no-reflow risk. Attention should be focused on recognising high thrombus burden and its effect on major adverse cardiovascular events and impaired myocardial reperfusion. Similarly, standardising TA techniques and ensuring appropriate patients' selection may also improve enhance our understanding of the role of thrombectomy in AMI. Emerging technologies such as stent retrievals and mechanical thrombectomy may overcome the limitations of manual thrombectomy devices.

Background: Hypoganglionosis is a rare gastrointestinal acquired motility disorder that resembles Hirschsprung's disease and can manifest in the adult life. Abdominal compartment syndrome, a condition characterized by an increase in intra-abdominal pressure with physiological disturbance can be caused by severe massive fecal impaction.

Case summary: A 33-year-old female presented to the emergency room with massive abdominal distension that rapidly progressed to abdominal compartment syndrome. The patient was diagnosed with hypoganglionosis. Life-saving emergent proctocolectomy was performed to save the patient.

Conclusion: Abdominal compartment syndrome can develop secondary to excessive colonic distension. This extreme but rare situation must be addressed immediately. Hypoganglionosis is a potential cause of severe constipation that may present in adulthood.

Background: Thyroid nodules (TN) are increasingly diagnosed worldwide; investigating the association between TN and colon polyps could be helpful in early detection and management. To our knowledge no meta-analysis has assessed the relationship between TN and adenomatous colonic polyps.

Aim: To assess the association between adenomatous colonic polyps, thyroid-stimulating hormone, and TN.

Methods: We searched PubMed, MEDLINE, Cochrane Library, EBSCO, and the first 100 articles in Google for articles published in English from inception until April 2025. We included prospective cohorts, retrospective studies, case-control studies, and cross-sectional studies. The keywords thyroid nodules, adenomatous colon polyps, thyroid volume, metabolic syndrome, insulin resistance, and thyroid malignancy were used.

Results: Out of 237 articles, 25 full texts were reviewed, and 5 full texts were included in the final meta-analysis. No relationship was found between TN, colonic polyps, and thyroid-stimulating hormone levels [odd ratio (OR): 1.78, 95% confidence interval (CI): 0.55-5.74, P = 0.33]. Colonic polyps were more common among patients with TN when addressing heterogeneity (OR: 0.42, 95%CI: 0.30-0.52, P < 0.001 and OR: 0.08, 95%CI: 0.70-0.86, P = 0.85).

Conclusion: TN were similar among patients with and without adenomatous colonic polyps. However, TN was more common among colon polyps when addressing the heterogeneity. Thyroid-stimulating hormone was not different between those with and without TN. Age, sex, adiposity, and smoking effects might explain the higher rate observed by the included studies. Further studies controlling for the same are needed.

Background: Elsberg syndrome is a type of postinfectious lumbosacral radiculitis typically triggered by neurotropic viruses and manifests as bladder/bowel dysfunction, saddle sensory disturbances (including hypoesthesia, hyperesthesia, or dysesthesia), and variable neurological deficits. Typically self-limiting, it often responds to antiviral and neurotropic therapies. However, in patients with comorbidities that confer susceptibility to peripheral neuropathy (e.g., diabetes mellitus), timely escalation to neuromodulation strategies, such as spinal cord stimulation, may be warranted to optimize functional outcomes when conservative measures are inadequate.

Case summary: A 60-year-old male with diabetes mellitus presented with severe bladder and bowel dysfunction persisting for more than two months, followed by left gluteal and perianal (saddle area) herpes zoster eruption that was accompanied by significant neuropathic pain. Following a suboptimal response to conservative therapy, the patient underwent implantation of a short-term spinal cord stimulation. Following a 10-day trial of continuous tonic stimulation, the percutaneous electrode lead was removed. The patients experienced no surgical complications, and after the procedure, the patient achieved complete restoration of bladder and bowel function and significant pain alleviation. Two-month follow-up confirmed sustained full recovery.

Conclusion: Early implementation of short-term spinal cord stimulation represents a promising therapeutic approach for promoting neurological recovery in patients with Elsberg syndrome refractory to conservative management, especially those with predisposing comorbidities such as diabetes mellitus.

Background: Acquired hemophilia A (AHA) is a rare autoimmune bleeding disorder characterized by autoantibodies against coagulation factor VIII (FVIII), leading to spontaneous bleeding in patients without a personal or family history of bleeding disorders. While AHA has been reported in association with various cancers, this case represents, to our knowledge, the first reported instance of AHA following head and neck cancer surgery and subsequent chemoradiotherapy.

Case summary: We present the case of a 65-year-old male with a history of hypopharyngeal squamous cell carcinoma (T4bN2cM0, AJCC 8^th edition) who developed AHA after extensive surgical resection and chemoradiotherapy. He presented with recurrent hemoptysis and ecchymosis. Coagulation studies showed isolated prolonged activated partial thromboplastin time of 83.8 seconds that did not correct with mixing studies. FVIII activity was < 1%, and a Bethesda assay confirmed FVIII inhibitors with a titer of 18.4 Bethesda units. Hemostasis was initially achieved with tranexamic acid and batroxobin. Immunosuppression with prednisone and cyclophosphamide was started; due to gastrointestinal bleeding, rituximab was added. Treatment was later transitioned to azathioprine with prednisone, followed by tapering. FVIII activity recovered to 188.2%, and the patient remained in remission over six years without AHA or malignancy recurrence.

Conclusion: This case underscores vigilance for AHA after head and neck cancer therapy to enable prompt treatment.

Background: This study investigates the impact of type 2 diabetes mellitus (T2DM) on the risk of interstitial lung disease (ILD) and its subtypes in patients with rheumatoid arthritis (RA). RA is often complicated by ILD. T2DM has systemic proinflammatory effects, but its impact on RA-related ILD is unclear. This research aims to elucidate the interplay between these conditions to inform clinical management and patient care strategies.

Aim: To determine if RA patients with T2DM have a higher occurrence of ILD compared to RA patients without T2DM.

Methods: We conducted a retrospective cohort study using the 2019-2020 National Inpatient Sample. Adult RA patients with and without T2DM were identified via International Classification of Diseases, 10^th Revision (ICD-10) codes. Propensity score matching (1:1) balanced 15+ confounders. Logistic regression assessed the association of T2DM with ILD (overall and by subtype) and secondary outcomes (acute respiratory distress syndrome, pneumothorax, pleural effusion, pulmonary hypertension). Missing data were excluded. ILD subtypes were included based on ICD-10 codes and case count.

Results: Among 199380 RA inpatients, ILD was more common in those with T2DM (2.25%) vs without (1.11%). After matching (n = 121046), ILD remained higher in RA + T2DM [odds ratio (OR) = 2.02, 95%CI: 1.84-2.22, P < 0.001], with an absolute risk increase of about 1.14%. T2DM was associated with higher odds of ILD subtypes including usual interstitial pneumonia (OR = 3.20) and non-specific interstitial pneumonia (OR = 3.50). Other subtypes showed elevated ORs; eosinophilic pneumonia showed an inverse association (OR = 0.23). PAH and pneumothorax were also more common in RA + T2DM (OR = 1.40 and 1.85, respectively). Acute respiratory distress syndrome and pleural effusion rates did not differ by T2DM status. Rare subtype findings should be interpreted cautiously.

Conclusion: T2DM increases ILD risk in RA and is linked to higher rates of pulmonary hypertension and pneumothorax, suggesting a role in exacerbating RA-related lung complications.

Background: Venlafaxine, a serotonin-norepinephrine reuptake inhibitor, is widely prescribed for the treatment of major depressive disorder. At therapeutic dose, it is generally safe, with a low incidence of adverse effects. However, massive venlafaxine ingestion can cause serious cardiotoxicity, leading to life-threatening arrhythmias.

Case summary: A 31-year-old woman with a history of depression ingested 14.8 g of venlafaxine along with 6 mg of estazolam and 6 mg of flunitrazepam. On admission, 2 hours post-ingestion, she presented only with mild QTc prolongation. At 4 hours post-ingestion, she developed a generalized tonic-clonic seizure. Following endotracheal intubation, intravenous midazolam infusion was initiated and 50 g of activated charcoal was administered via a nasogastric tube. At 15 hours post-ingestion, she developed ventricular tachycardia that rapidly progressed to refractory ventricular fibrillation, which was successfully treated with veno-arterial extracorporeal membrane oxygenation. Toxicological analysis revealed serum venlafaxine and O-desmethylvenlafaxine concentrations 17 µg/mL and 10 µg/mL, respectively, at 15 hours post-ingestion.

Conclusion: In cases of massive venlafaxine ingestion, continuous intensive monitoring, particularly of QTc, is essential for at least 24 hours, even when initial clinical signs are mild. If refractory ventricular arrhythmias occur, prompt initiation of veno-arterial extracorporeal membrane oxygenation should be considered.