World Journal of Clinical Cases最新文献

Although drug-coated balloons (DCBs) were initially used for treating peripheral vascular diseases, with the growing popularity of the implant-free concept, they have gained increasing attention as a novel therapeutic strategy for coronary atherosclerotic heart disease. The clinical application scope of DCBs, represented by paclitaxel-coated balloons (PCBs), is constantly expanding. Their application fields are no longer limited to lesions of coronary artery and peripheral vascular diseases, and relevant research is also being actively advanced. In the field of arterial diseases, the application of PCBs has significantly extended. They are used in lower extremity arteries and hemodialysis access and play a role in renal artery fibromuscular dysplasia, and carotid/vertebrobasilar/intracranial arteries. PCBs also show unique value in the treatment of Takayasu arteritis, Kawasaki disease, coronary myocardial bridge, and pulmonary artery diseases. In the venous system, PCBs also have therapeutic potential, with research and clinical investigations now extending to lower extremity, central, and pulmonary vein diseases, and innovative solutions for graft stenosis. The application of PCBs is no longer confined to vascular diseases. They are gradually breaking through traditional boundaries in treating luminal disorders such as urethral, biliary, and esophageal strictures. This mini-review synthesizes existing clinical evidence and basic research findings to concisely analyze the mechanisms of action and biological effects of PCBs in noncoronary applications. A comprehensive analysis of current studies provides a reference for subsequent research and clinical practice in this field and explicitly identifies the challenges faced by current research, explores future directions, and facilitates the in-depth extension of DCB applications.

Hypophosphatasia (HPP) is a rare metabolic bone disorder often misdiagnosed as fibromyalgia due to overlapping symptoms such as chronic pain, fatigue, and muscle weakness. This diagnostic error disproportionately affects women and can result in significant psychological distress due to repeated dismissal of symptoms. Despite low serum alkaline phosphatase (ALP) being a key biochemical clue to HPP, it is frequently overlooked in standard diagnostic evaluations. Consequently, many patients endure years of ineffective treatment, invalidation, and worsening psychiatric outcomes. This editorial emphasizes the need for greater clinical vigilance in distinguishing HPP from fibromyalgia, particularly when features such as chronic pain, premature tooth loss, and persistently low ALP are present. Gender biases in pain diagnosis further compound this problem, leading to greater misdiagnosis rates among women and contributing to the erosion of trust in medical care. The psychiatric consequences of diagnostic delays are substantial, with affected individuals experiencing elevated rates of depression, anxiety, and emotional distress. Greater recognition of low ALP as a meaningful diagnostic clue may enhance diagnostic accuracy, improve patient outcomes, and reduce the psychological toll of misdiagnosis.

Background: Mantle cell lymphoma (MCL) is an aggressive B-cell non-Hodgkin lymphoma that rarely presents with cutaneous involvement, which typically occurs in advanced disease stages. Primary cutaneous manifestations are particularly uncommon and frequently misdiagnosed. We report a diagnostically challenging case of MCL that first appeared as a nodule on the lower leg.

Case summary: An elderly female had a painless red nodule on the front of her right lower leg for six months. Positron emission tomography-computed tomography showed a soft tissue mass at the same site and increased activity in the right groin lymph nodes. Skin and lymph node biopsies, along with immunostaining, confirmed MCL. The patient began combination chemotherapy, resulting in a marked improvement of skin lesions and lymphadenopathy after two weeks.

Conclusion: Cutaneous manifestations, though uncommon, may serve as the initial clinical presentation of MCL. Dermatologists and pathologists should maintain heightened awareness of this diagnostic possibility when evaluating persistent, atypical cutaneous nodules, particularly in elderly patients. Histopathological evaluation with complete immunophenotypic profiling is paramount for accurate diagnosis.

Background: Thyroid cancer is a common malignancy, often found in women. It is the second most common malignant tumor, second only to breast cancer, and it most frequently occurs as papillary thyroid carcinoma (PTC), representing over 90% of cases. PTC frequently presents with lymph node metastases, though in rare cases, patients may experience dysphagia, dyspnea, or hoarseness. In PTC and other differentiated thyroid cancers, direct invasion into major local veins is uncommon, and simultaneous involvement of the vagus nerve is even rarer. Herein, we report a case involving a 50-year-old male patient with a complete invasion of the vagus nerve and the internal jugular vein.

Case summary: A 50-year-old male discovered a mass on the left side of his neck one year ago. Initially, the mass was approximately 3 cm, but it gradually grew to approximately 6.5 cm in the past month and caused hoarseness. There is no family history of note. On physical examination, a firm, non-tender mass approximately 6.5 cm in diameter was palpated along the lateral border of the left sternocleidomastoid muscle. The mass was irregular in shape, immobile, and did not move with swallowing. The patient has a 5-year history of hypertension with hypokalemia controlled with oral antihypertensive medications (nifedipine and spironolactone). His blood pressure has been maintained between 165-185/112-132 mmHg, and he often reports dizziness. Upon hospitalization, he was diagnosed with primary hyperaldosteronism. Ultrasound-guided fine needle aspiration biopsy of the left neck mass was performed, and the pathology report confirmed a diagnosis of PTC, with a clinical diagnosis of left-sided metastatic PTC.

Conclusion: The postoperative survival rate for PTC patients is generally good. If clinical signs suggest PTC with recurrent laryngeal nerve involvement, fiberoptic laryngoscopy should be conducted to assess the vocal cords, and intraoperative nerve monitoring is crucial. Preoperative evaluation of the involvement of major neck blood vessels is necessary. Therefore, surgeons should examine signs of large vein damage, as vascular resection and repair or reconstruction are often required. Surgery should be the first choice for differentiated thyroid cancer and radioactive iodine treatment (I-131) should be administered to patients with extrathyroidal invasion or metastasis following total thyroidectomy, followed by TSH suppression therapy.

Background: Acute liver failure (ALF) is a life-threatening multisystemic condition with high short-term mortality. With the growing prevalence of obesity and metabolic syndrome, it is important to investigate the clinical implications of high body mass index (BMI) on survival outcomes in ALF.

Aim: To explore the impact of overweight and obesity on the clinical outcomes of patients with ALF.

Methods: A retrospective observational cohort study was conducted involving patients with ALF admitted to the Johns Hopkins Health System between January 1, 2000 and May 1, 2020. We performed Cox proportional hazards regression to identify outcomes, including the need for liver transplantation (LT) or all-cause mortality.

Results: A total of 196 patients were included, the median age was 43.5 years, 63.3% were female, and 59.7% were of Caucasian ethnicity. Acetaminophen-induced ALF was the most common etiology (45%). The mean BMI was significantly greater among patients who underwent LT or died (29.64 kg/m² vs 26.59 kg/m², P = 0.008) than among survivors. Patients with overweight and obesity had a higher risk of all-cause mortality or need for LT by 2.22-fold (95%CI: 1.30-3.78) and 2.04-fold (95%CI: 1.29-3.39), respectively. Elevated BMI was associated with renal failure and higher grades of hepatic encephalopathy. Derangements in serologic markers, including alanine transaminase, lactate, and ammonia, were associated with a mortality risk or need for LT.

Conclusion: In this large, retrospective study, with a diverse cohort of United States patients, Overweight and obese were independently associated with an increased risk of all-cause mortality or need for LT. This work highlights the importance of closely monitoring ALF patients who are overweight or obese for adverse complications and measures to improve outcomes in this vulnerable patient population.

Background: Plasmacytoid urothelial carcinoma (PUC) is a rare histologic variant of urothelial carcinoma. PUC is characterized by aggressiveness and poor prognosis. Since the first reported case of PUC in 1991, approximately 100 cases have been documented. In patients with PUC, colorectal metastasis is an uncommon presentation that is difficult to diagnose because it can mimic colitis on imaging examination, exhibiting colorectal wall thickening with a preserved vesicorectal fat plane. The pathogenesis of urologic malignancies that metastasize to the colon remains unclear.

Case summary: A 65-year-old Taiwanese man presented to our emergency department with a 3-month history of progressive abdominal fullness. A month before presentation, he had visited our hospital for gross hematuria with hydronephrosis and was subsequently hospitalized in our urology ward for transurethral resection of a bladder tumor. Postoperative histopathologic examination confirmed PUC. Regarding the illness at presentation, abdominal computed tomography revealed diffuse distension of the small and large intestines and long segmental thickening of the rectosigmoid colonic wall. Conservative management-empirical antibiotics, bowel rest, nasogastric tube decompression, and intravenous fluid support-was initiated with a presumptive diagnosis of colitis. Because of the patient's inadequate response to conservative management, a diverting ileostomy was performed, which relieved the abdominal distension. Subsequent colonoscopic and histopathologic examinations with immunohistochemical staining confirmed colorectal metastasis through an atypical metastatic route.

Conclusion: Our case highlights diagnostic challenges posed by atypical imaging findings and unusual etiologies of gastrointestinal wall thickening with peripheral infiltration.

Primary biliary cholangitis is a chronic cholestatic autoimmune liver disease that progressively damages the bile ducts, leading to cholestasis and, in advanced stages, cirrhosis. While it primarily affects middle-aged women, recent data indicate a rising incidence in men. The interplay between genetic susceptibility, environmental exposures, and gut microbiome alterations is thought to drive disease onset. Diagnosis relies on persistent cholestatic enzyme elevation, disease-specific autoantibodies, and, in select cases, liver biopsy. Ursodeoxycholic acid remains the cornerstone of treatment, but many patients show an incomplete response. The recent withdrawal of obeticholic acid from the market, due to insufficient evidence of long-term benefit, has highlighted the urgent need for effective second-line therapies. Agonists of peroxisome proliferator- activated receptors, such as elafibranor and seladelpar, have demonstrated promising biochemical improvements and may reshape the therapeutic landscape. Future research is focused on refining risk assessment, optimizing treatment combinations, and addressing symptoms such as fatigue and pruritus to enhance patient well-being. A shift toward early intervention and personalized treatment strategies may further improve long-term outcomes in primary biliary cholangitis.

This editorial provided commentaries on an article titled "Liver function improvement after human placental extract injections in patients with chronic liver disease: Thirty case reports". The first clinical application of an innovative therapeutic protocol was comprehensively described in this case report by Lee, in which 30 patients with chronic liver disease (CLD) received intravenous administration of 10 mL human placental extract (HPE). Notably, significant improvements in liver function could be observed in these patients, which underscored the potential of this novel treatment for CLD management. However, the rising prevalence of CLD around the world underscored the limitations of conventional therapies (such as antiviral agents and lifestyle modifications) in addressing advanced fibrosis or metabolic dysfunction-associated steatotic liver disease. Additionally, emerging regenerative therapies (including HPE) have garnered more attention due to their bioactive components, which could modulate the hepatic microenvironment based on antioxidant, anti-inflammatory, and pro-regenerative mechanisms. Although the existing evidence remains relatively lacking, the multi-targeted action of HPE highlights its potential as a novel therapeutic strategy. Overall, this editorial outlines the research advancements of HPE, alongside the critical analysis of existing limitations and the proposal of future research directions.

Background: Dermatofibrosarcoma protuberans (DFSP) is a rare, low-grade, locally aggressive cutaneous sarcoma. DFSP in the periocular region is exceedingly rare, leading to diagnostic and surgical challenges due to anatomical constraints in the periocular region. Precise diagnosis is essential to guide appropriate surgical management and prevent recurrence.

Case summary: A 32-year-old female presented with a recurrent tumor in the medial canthus, previously diagnosed as a solitary fibrous tumor in an outside institution. After complete radiological and systemic workup, she was scheduled for a wide local excision followed by reconstruction after getting tumor clear margins on frozen section. Histopathology confirmed DFSP, characterized by storiform spindle cell proliferation, diffuse cluster of differentiation 34 positivity, and signal transducer and activator of transcription 6 negativity.

Conclusion: This case highlights the challenges in the diagnostic and surgical management of DFSP in periocular tumors. Comprehensive surgical excision with appropriate reconstruction is critical for achieving oncological control while preserving aesthetics and function.

Background: Basidiobolomycosis, a fungal infection affecting immunocompetent individuals, is caused by Basidiobolus ranarum, a fungus classified under the order Entomophthorales, which was previously grouped under Zygomycetes. Gastrointestinal basidiobolomycosis (GIB) is often life-threatening, with a high mortality rate if left untreated; however, favorable outcomes have been achieved with prompt diagnosis and proper management.

Case summary: Herein, we present a case of GIB in a 32-year-old Saudi male, and smoker who presented with a 2-month history of mild-to-moderate pain in the right lower quadrant of the abdomen. On clinical suspicion of colon cancer due to the presence of an ileocecal mass on imaging studies, he underwent a colonoscopy and endoscopic biopsy followed by histopathological examination. The latter revealed colonic mucosal fragments showing ulceration, granulation tissue, and marked eosinophilic as well as mixed inflammatory cell infiltration along with scattered giant cells. A few scattered, thin-walled, broad fungal hyphae were evident on special stains. Based on the histopathological findings, the patient was diagnosed with GIB. He was started on voriconazole, but switched to posaconazole after 5 weeks because the patient developed hepatotoxicity. After about 4 months of treatment with posaconazole, he was asymptomatic, and abdominal CT revealed complete resolution of the mass lesion.

Conclusion: This case highlights the rare presentation of GIB in an immunocompetent adult initially misdiagnosed as colon cancer, emphasizing the importance of histopathological evaluation in diagnosing fungal infections. It also underscores successful treatment with posaconazole following voriconazole-induced hepatotoxicity, demonstrating therapeutic flexibility in managing GIB.