Medicine
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Steroid-resistant nephrotic syndrome (SRNS) is a special kidney disease. SRNS is characterized by steroid-resistant, clinical variability, and genetic heterogeneity. Patients with SRNS often may eventually need renal transplantation. ⋯ The novel NUP93 heterozygous mutations identified in the current study broadened the genetic spectrum of SRNS and further deepened our insight into pathogenic mutations of NUP93 to improve disease diagnosis.
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Case Reports
Long-term survival of advanced lung adenocarcinoma by maintenance chemotherapy followed by EGFR-TKI: A case report.
The incidence of nonsmall cell lung cancer (NSCLC) is high. Most nonsmall cell lung cancers have undergone multiple metastases at the time of initial diagnosis, and the 5 year survival rate is low. At present, comprehensive treatments, including systemic chemotherapy, targeted therapy, antiangiogenic therapy, and immunotherapy, prolong the survival of patients with advanced NSCLC. Herein, we report a case of NSCLC with long-term survival. ⋯ The patient benefited from maintenance chemotherapy and epidermal growth factor receptor-tyrosine kinase inhibitor treatment and achieved long-term survival.
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Pulmonary artery intimal sarcoma is a rare tumor with exceptionally high mortality and easily misdiagnosed as pulmonary thromboembolism pulmonary thromboembolism (PTE) due to the nonspecific clinical presentation and symptom. Misdiagnosis or untimely diagnosis makes the disease progress to an advanced stage and eventually leads to a poor prognosis. ⋯ Because of the low incidence rate, nonspecific clinical symptoms, and radiological findings, primary fibrosarcoma of the pulmonary artery is commonly misdiagnosed as PTE. Pathological examination is necessary to confirm the diagnosis.
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Mucormycosis is a rare fungal infection that typically occurs in immunosuppressed patients following chemotherapy or hematopoietic stem cell transplantation. ⋯ Mucormycosis diagnosis is difficult as clinical and imaging findings vary. This case demonstrates that posaconazole monotherapy combined with bronchoscopy interventions may be a safe and effective treatment option for pediatric pulmonary mucormycosis.
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The Pisa syndrome (PS) is defined as a kind of reversible postural deformity which causes a lateral trunk flexion of 10 degrees or more. A prevalence of approximately 7.4% to 10.3% of patients with Parkinson disease (PD) also have PS. Though unbalanced function of the basal ganglia network and impaired visual-spatial functions including parietal cortices in PS is known, the pathophysiology of PS remains to be unclear. ⋯ Based on previous literature and the imaging of our patient, we hypothesize that PS results from unbalanced function of the basal ganglia network and impaired visual-spatial functions of bilateral parietal cortices.