SAGE Open Medical Case Reports最新文献

Radicular lumbar pain is a widespread condition characterized by nerve dysfunction. Many treatments have been proposed over time for its management, ranging from surgery to conservative approaches. The combined application of multiple transcutaneous electrotherapies may be a valid approach for the condition; however, the evidence supporting it is currently weak, as most proposed application protocols are often lacking in detail and replicability. A case series of seven patients (mean age 65 ± 9 years) was conducted to observe their response to a specific non-invasive multimodal transcutaneous electrotherapy protocol, monitored through pain and perceived disability rating scales and postural assessments. Patients showed a general improvement in the monitored parameters, particularly the painful component of the condition. The proposed protocol appears effective and merits further, more in-depth studies, while it continues to be successfully applied in the management of patients with radicular lumbar pain.

Chilblain lupus erythematosus is a rare, cold-induced form of chronic cutaneous lupus that can occur in both genetic and sporadic forms. It is characterized by acral skin lesions and is commonly associated with autoimmunity and type I interferon pathway activation. Diagnosis is based on clinical features and histological findings. While topical and systemic therapies can be effective, the disease is often chronic and relapsing. We describe a case of a 48-year-old woman with chilblain lupus erythematosus who achieved almost complete clinical remission following treatment with hydroxychloroquine and methotrexate.

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare autosomal dominant disorder caused by the fumarate hydratase (FH) gene mutations. Here, we report the first identification of the rare FH-Q185R mutation in a Chinese patient with HLRCC. This case report not only examines the distribution of the FH gene using the Cancer Genome Atlas database but also provides a series of evidence to assess the pathogenicity of the Q185R mutation. This missense mutation, encoded by mitochondrial DNA, corresponds to the cytoplasmic amino acid residue 142 in human cells. These findings could pave the way for more effective management and treatment approaches for patients suffering from HLRCC.

Many individuals with localized melanoma undergo wide local excision and live many years with the surgical scar. The present case describes a basal cell carcinoma arising from a malignant melanoma excision scar. There are no similar reports in the literature. A 69-year-old female with a 25-year remote history of localized melanoma treated with wide local excision presents with two new lesions overlying the scar. The lesions were confirmed to be a basal cell carcinoma and dysplastic nevi on punch biopsy. Complete scar excision is performed. This report warns of the possibility of secondary primary malignancy arising from within the scar of a previous malignancy excision. With any changes to a scar, a prompt biopsy should be performed and treatment administered appropriately depending on the diagnosis.

Scleromyxedema is a rare, chronic mucinosis characterized by widespread skin fibrosis and an associated monoclonal gammopathy. Therapeutic options remain limited. We present the case of a male in his 50s with biopsy-confirmed scleromyxedema and IgG λ monoclonal gammopathy who initially responded to intravenous immunoglobulin but later progressed despite full-dose maintenance. Due to severe pruritus and recent evidence implicating Type 2 cytokines in scleromyxedema pathogenesis, dupilumab was added to ongoing intravenous immunoglobulin. Pruritus improved within 4 months, but fibrosis remained unchanged and M-protein levels continued to rise, reaching 35.3 g/L by month 12. Dupilumab was discontinued due to lack of disease modification. Bone marrow biopsy confirmed smoldering multiple myeloma. The patient subsequently responded well to daratumumab, cyclophosphamide, bortezomib, and dexamethasone chemotherapy and autologous stem cell transplant. This case illustrates the potential for IL-4Rα blockade to control symptoms such as pruritus in scleromyxedema, but underscores the need for plasma cell-directed therapy to address the underlying disease process.

In this case report, we present the first 14 months of an 18-year-old adolescent male with comorbid diagnoses who exhibits extremely aggressive and self-injurious behavior and is treated with a combination of clozapine and behavioral interventions. The patient responded positively to clozapine and behavioral interventions, with decreased behavioral disturbances and improved social skills. The patient was maintained on clozapine with no significant side effects or hematologic adverse events. We would like to emphasize, through this case report, that clozapine, despite its dose-dependent effects and potential adverse effects such as increased susceptibility to infections and hematological irregularities, can be an effective treatment option for patients with severe behavioral disturbances associated with Autism.

Guillain-Barré syndrome is a clinical syndrome manifesting as immune-mediated polyneuropathy. Approximately one-third of affected patients develop respiratory failure, necessitating intensive care unit admission and invasive mechanical ventilation. Multiple factors present at the onset and during intensive care unit stay are established predictors of the requirement for invasive mechanical ventilation. These include the rapid progression of motor weakness, concurrent involvement of peripheral limb and axial muscles, ineffective cough, bulbar muscle weakness, and the decline in rapid vital capacity. However, no reliable criteria currently exist to predict the duration of muscle weakness progression and plateau phases or the time to recovery. We herein report a case of a 55-year-old male admitted to the intensive care unit following a 5-day history of progressive ascending generalized weakness. His condition progressed to quadriplegia, diaphragmatic paralysis, and autonomic dysfunction. A diagnosis of Guillain-Barré syndrome-acute motor axonal neuropathy variant was confirmed via neurological examination, imaging, cerebrospinal fluid analysis, and nerve conduction studies. The patient exhibited no clinical improvement following two courses of five sessions each of plasma exchange and intravenous immunoglobulin. Owing to the refractory nature of his condition, he required more than 5 months of step-down intensive care unit care prior to transfer to a general medical ward and subsequent discharge home on hospital day 182.

Cerebral arteriovenous malformations (AVMs) are congenital vascular abnormalities that can lead to neurological impairments following rupture. This proof-of-concept case report examines the integration of the Monitored Augmented Rehabilitation System (MARS), an immersive virtual gaming platform, into a multidisciplinary rehabilitation program for a 12-year-old female recovering from a ruptured AVM. MARS was used as an adjunct modality alongside conventional interventions over a 4-week period to target functional outcomes as assessed by the Neurocom Balance Manager^®. Quantitative results demonstrated targeted functional gains: Directional Control during the Limits of Stability test increased from 66% to 73%, toes-up Adaptation Test scores improved from 104.2 to 116.2, and toes-down scores from 115.6 to 119.0. Clinically observed increases in engagement, motivation, and adherence were noted during therapy sessions. This report underscores the feasibility and clinical potential of MARS as a complementary tool for enhancing motor learning and functional outcomes in pediatric neurorehabilitation. Future research should focus on larger sample sizes and extended intervention periods to validate the efficacy of MARS in improving long-term recovery outcomes.

Human umbilical cord mesenchymal stem cell-derived exosomes have gained attention as a promising, cell-free regenerative therapy due to their immunomodulatory and tissue-repair properties. This study retrospectively evaluated the safety and efficacy of nebulized human umbilical cord mesenchymal stem cell exosome therapy in three patients with asthma and/or chronic obstructive pulmonary disease who underwent weekly nebulized exosome therapy for 5 weeks at ALPS Medical Centre, Kuala Lumpur, Malaysia. Clinical outcomes were assessed using pulmonary function tests, inflammatory markers, and laboratory parameters. Post-therapy, pulmonary function improved, with increases in forced expiratory volume in 1 s from 2.59 to 3.4 L (p = 0.07) and forced vital capacity from 2.48 to 3.32 L (p = 0.11), while the forced expiratory volume in 1 s/forced vital capacity ratio significantly increased from 82.57% to 92.9% (p = 0.05), indicating reduced airflow limitation. Inflammatory markers, including C-reactive protein and eosinophil count, remained stable, and no significant changes were observed in hepatic, renal, or haematological parameters. Additionally, no adverse reactions or safety concerns were reported. In conclusion, nebulized human umbilical cord mesenchymal stem cell-derived exosome therapy demonstrated potential in improving pulmonary function and alleviating respiratory symptoms in patients with asthma and chronic obstructive pulmonary disease while maintaining a favourable safety profile. These preliminary findings support further investigation of exosome therapy as an adjunctive treatment for chronic respiratory diseases.

Carfilzomib is a second-generation irreversible proteasome inhibitors commonly used in the treatment of relapsed or refractory multiple myeloma. However, cardiac toxicity (heart failure, hypertension, coronary heart disease, etc.) has become the main factor leading to its reduction or withdrawal. We report a case of a 55-year-old female patient with multiple myeloma who developed sinus bradycardia following the administration of carfilzomib, along with a review of the relevant literature. The correlation between carfilzomib and cardiotoxicity was assessed by reviewing the medical history, applying the adverse drug reaction correlation evaluation, and using the Naranjo assessment scale. The clinical manifestations included chest tightness, shortness of breath, and abnormal electrocardiogram monitoring. The condition was effectively managed following treatment with a combination of trimetazidine and salbutamol. We conducted a literature review of 27 published cases of proteasome inhibitor-induced cardiac toxicity. In the 27 published cases, 12 cases were caused by carfilzomib (44.4%). To our knowledge, this is the first reported case of carfilzomib-associated sinus bradycardia, expanding the spectrum of proteasome inhibitors-related cardiotoxicity. This provides inspiration for suspected patients to stop using carfilzomib early and symptomatic treatment can effectively reduce mortality and improve prognosis.