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Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin, brain, eyes, oral cavity, heart, lungs, kidneys, liver, and bones. Its main symptoms include epilepsy, intellectual disabilities, skin depigmentation, and facial angiofibromas, whilst incidence is approximately 1 in 10 000 to 1 in 6000 newborns. This case presents a middle-aged woman who initially manifested with epilepsy and nodular depigmentation. Later, she developed a lower abdominal mass, elevated creatinine, and severe anemia. Based on clinical features and whole exome sequencing, the primary diagnosis was confirmed as TSC. Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus. CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess. With the involvement of multiple organs and various complications beyond the main diagnosis, the diagnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multidisciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.
RESUMEN
Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin, brain, eyes, oral cavity, heart, lungs, kidneys, liver, and bones. Its main symptoms include epilepsy, intellectual disabilities, skin depigmentation, and facial angiofibromas, whilst incidence is approximately 1 in 10 000 to 1 in 6000 newborns. This case presents a middle-aged woman who initially manifested with epilepsy and nodular depigmentation. Later, she developed a lower abdominal mass, elevated creatinine, and severe anemia. Based on clinical features and whole exome sequencing, the primary diagnosis was confirmed as TSC. Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus. CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess. With the involvement of multiple organs and various complications beyond the main diagnosis, the diagnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multidisciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.
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Lymphangioleiomyomatosis (LAM) is a rare, multisystemic, low-grade neoplasm character-ized by diffuse cystic lesions in the lung.In recent years, emerging imaging examination such as 68Ga-NEB PET-CT scan provides efficient and precise non-invasive diagnostic methods to detect lymphatic circulation abnormalities in LAM patients. The long-term efficacy and safety of sirolimus for LAM has accumulated further evidence, and genetic profiling studies have unveiled more information of genetic mechanisms. Prognosis of LAM has been much improved. We briefly reviewed the research advances of LAM in China and other countires.
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An unexpected observation among the COVID-19 pandemic is that smokers constituted only 1.4%-18.5% of hospitalized adults, calling for an urgent investigation to determine the role of smoking in SARS-CoV-2 infection. Here, we show that cigarette smoke extract (CSE) and carcinogen benzo(a)pyrene (BaP) increase ACE2 mRNA but trigger ACE2 protein catabolism. BaP induces an aryl hydrocarbon receptor (AhR)-dependent upregulation of the ubiquitin E3 ligase Skp2 for ACE2 ubiquitination. ACE2 in lung tissues of non-smokers is higher than in smokers, consistent with the findings that tobacco carcinogens downregulate ACE2 in mice. Tobacco carcinogens inhibit SARS-CoV-2 spike protein pseudovirions infection of the cells. Given that tobacco smoke accounts for 8 million deaths including 2.1 million cancer deaths annually and Skp2 is an oncoprotein, tobacco use should not be recommended and cessation plan should be prepared for smokers in COVID-19 pandemic.
Asunto(s)
Adulto , Animales , Humanos , Ratones , COVID-19 , Células Epiteliales , Pulmón , Pandemias , Peptidil-Dipeptidasa A , SARS-CoV-2 , Glicoproteína de la Espiga del Coronavirus , Ubiquitina-Proteína Ligasas/genéticaRESUMEN
Lymphangioleiomyomatosis (LAM) is a rare diffuse cystic lung disease. Knowledge on LAM-related pulmonary hypertension (PH) is limited. This study aimed to analyze the clinical characteristics of LAM with elevated pulmonary artery pressure (PAP) and evaluate the potential efficacy of sirolimus. The study involved 50 LAM patients who underwent echocardiography. According to the tricuspid regurgitation velocity (TRV), these patients were divided into the TRV ⩽ 2.8 m/s group and TRV > 2.8 m/s group. Both groups comprised 25 females with an average age of 38.6 ± 8.1 and 41.5 ± 8.9 years. In the TRV > 2.8 m/s group, the estimated systolic PAP (SPAP) was significantly elevated (52.08 ± 12.45 mmHg vs. 30.24 ± 5.25 mmHg, P < 0.01). Linear analysis showed that SPAP was correlated with forced expiratory volume in 1 s (FEV), diffusing capacity of the lungs for carbon monoxide, alveolar arterial oxygen gradient (PO), and 6 min walking distance (r =-0.392, -0.351, 0.450, and -0.591, respectively; P < 0.05), in which PO was a risk factor for SPAP elevation (β = 0.064, OR = 1.066, P < 0.05). Moreover, in 10 patients who received sirolimus therapy, SPAP decreased from 57.0 12.6 mmHg to 35.2 ± 11.1 mmHg. The study showed that LAM patients with PH exhibit poor pulmonary function and hypoxemia and may benefit from sirolimus treatment.
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Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Monóxido de Carbono , Ecocardiografía , Prueba de Esfuerzo , Hemodinámica , Hipertensión Pulmonar , Terapéutica , Modelos Logísticos , Linfangioleiomiomatosis , Terapéutica , Análisis Multivariante , Oxígeno , Sangre , Usos Terapéuticos , Pruebas de Función Respiratoria , Sirolimus , Usos TerapéuticosRESUMEN
OBJECTIVE: To explore the appropriate treatment of malignant germ cell tumor (MGCT) in the female genital system, and to analyze the factors influencing both therapeutic response and survival outcome. METHODS: A cohort of 230-Chinese women diagnosed with MGCT of the genital system was retrospectively reviewed and prospectively followed. The demographic and pathological features, extent of disease and surgery, treatment efficiency, recurrence and survival were analyzed. RESULTS: MGCTs from different genital origins shared a similar therapeutic strategy and response, except that all eight vaginal cases were infantile yolk sac tumors. The patients' cure rate following the initial treatment, 5-year overall survival and disease-free survival (DFS) were 85.02%, 95.00%, and 86.00%, respectively. Although more extensive excision could enhance the remission rate; it did not improve the patients' survival. Instead, the level of the medical institution, extent of surgery and disease were independent prognostic factors for relapse (p<0.05). Approximately 20% of patients had recurrent or refractory disease, more than half of whom were in remission following secondary cytoreductive surgery with salvage chemotherapy. CONCLUSION: Fertility-sparing surgery with or without standardized PEB/PVB (cisplatin, etoposide/vincristine, and bleomycin) chemotherapy is applicable for female MGCTs of different origins. Comprehensive staging is not required; nor is excessive debulking suggested. Appropriate cytoreduction by surgery and antineoplastic medicine at an experienced medical institution can bring about an excellent prognosis for these patients.
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Adolescente , Adulto , Anciano , Niño , Preescolar , Femenino , Humanos , Lactante , Persona de Mediana Edad , Adulto Joven , Terapia Combinada , Procedimientos Quirúrgicos de Citorreducción , Neoplasias de los Genitales Femeninos/diagnóstico , Neoplasias de Células Germinales y Embrionarias/diagnóstico , Pronóstico , Recurrencia , Análisis de SupervivenciaRESUMEN
<p><b>OBJECTIVE</b>Diffuse panbronchiolitis, a distinct clinical entity of unknown etiology, has been reported originally and primarily in Japanese and rarely in non-Japanese populations. Macrolide therapy is effective for this once dismal disease. Diffuse panbronchiolitis complicated with thymoma is uncommon; only 2 cases have been reported to date. The aims of this study were to describe the clinical profiles, assess the response to macrolide therapy, and to discuss the possible pathogenesis of diffuse panbronchiolitis in this setting.</p><p><b>METHODS</b>The clinical profiles, macrolide therapy response of diffuse panbronchiolitis complicated with encapsulated thymoma in 2 histologically confirmed cases were described and discussed with the 2 cases reported in the literature: one complicated with encapsulated thymoma, another with invasive thymoma.</p><p><b>RESULTS</b>Of the 2 cases, both had negative PPD skin testing and abnormal serum levels of various immunoglobulins, 1 had positive anti-nuclear antibody, but none had elevated cold hemagglutinin titers, and both had an excellent response to macrolide therapy. Of the 2 cases reported in the literature, both had negative PPD or tuberculin skin testing, 1 had severe hypogammaglobulinemia, 1 had elevated IgA, 1 had positive anti-DNA, 1 had elevated cold hemagglutinin titers, but both died of respiratory failure in spite of macrolide therapy in 1 case.</p><p><b>CONCLUSIONS</b>Prognosis for diffuse panbronchiolitis complicated with thymoma may depend on the nature of the thymoma and on the disease course. Macrolide therapy is also effective if administered early in the disease course and if the thymoma is cured. Immunological factors may play an important role in the pathogenesis of diffuse panbronchiolitis in this setting.</p>