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1.
Front Endocrinol (Lausanne) ; 14: 1257078, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37810894

RESUMO

Severe hypokalaemia causing rhabdomyolysis (RML) in primary aldosteronism (PA) is a rare entity, and only a few cases have been reported over the last four decades. This systematic review and case report aims to gather all published data regarding a hypokalaemic RML as presentation of PA in order to contribute to the early diagnosis of this extremely rare presentation. With the use of PubMed Central, EMBASE, and Google Scholar, a thorough internet-based search of the literature was conducted to identify articles and cases with RML secondary to hypokalaemia due to PA between June 1976 and July 2023. The case study concerns a 68-year-old male patient with hypokalaemic RML at presentation of PA. In the systematic review of the literature, 37 cases of RML secondary to hypokalaemia due to PA have been reported to date. In summary, the median age was 47.5 years, the male/female ratio was 17/21, all patients presented symptoms (weakness and/or myalgia), all the patients were hypertensive, and only four patients had complications with acute kidney injury (AKI). Although PA rarely presents with RML, it should be suspected when marked hypokalaemia and hypertension are also present. Early detection and management are essential to reduce the frequency of manifestations such as AKI.


Assuntos
Injúria Renal Aguda , Hiperaldosteronismo , Hipertensão , Hipopotassemia , Rabdomiólise , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Hipopotassemia/complicações , Hipopotassemia/diagnóstico , Hipertensão/complicações , Hipertensão/diagnóstico , Rabdomiólise/complicações , Rabdomiólise/diagnóstico , Injúria Renal Aguda/etiologia , Hiperaldosteronismo/complicações , Hiperaldosteronismo/diagnóstico
2.
Int J Mol Sci ; 24(17)2023 08 25.
Artigo em Inglês | MEDLINE | ID: mdl-37686015

RESUMO

Gynaecological serous carcinomas (GSCs) constitute a distinctive entity among female tumours characterised by a very poor prognosis. In addition to late-stage diagnosis and a high rate of recurrent disease associated with massive peritoneal carcinomatosis, the systematic acquisition of resistance to first-line chemotherapy based on platinum determines the unfavourable outcome of GSC patients. To explore the molecular mechanisms associated with platinum resistance, we generated patient-derived organoids (PDOs) from liquid biopsies of GSC patients. PDOs are emerging as a relevant preclinical model system to assist in clinical decision making, mainly from tumoural tissue and particularly for personalised therapeutic options. To approach platinum resistance in a GSC context, proficient PDOs were generated from the ascitic fluid of ovarian, primary peritoneal and uterine serous carcinoma patients in platinum-sensitive and platinum-resistant clinical settings from the uterine aspirate of a uterine serous carcinoma patient, and we also induced platinum resistance in vitro in a representative platinum-sensitive PDO. Histological and immunofluorescent characterisation of these ascites-derived organoids showed resemblance to the corresponding original tumours, and assessment of platinum sensitivity in these preclinical models replicated the clinical setting of the corresponding GSC patients. Differential gene expression profiling of a panel of 770 genes representing major canonical cancer pathways, comparing platinum-sensitive and platinum-resistant PDOs, revealed cellular response to DNA damage stimulus as the principal biological process associated with the acquisition of resistance to the first-line therapy for GSC. Additionally, candidate genes involved in regulation of cell adhesion, cell cycles, and transcription emerged from this proof-of-concept study. In conclusion, we describe the generation of PDOs from liquid biopsies in the context of gynaecological serous carcinomas to explore the molecular determinants of platinum resistance.


Assuntos
Ascite , Cistadenocarcinoma Seroso , Humanos , Feminino , Organoides , Peritônio , Líquido Ascítico , Cistadenocarcinoma Seroso/tratamento farmacológico , Cistadenocarcinoma Seroso/genética
3.
J Neurol ; 269(10): 5629-5637, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35713691

RESUMO

BACKGROUND: Determining the cause of acute ischemic stroke is crucial for patient management, particularly for preventing future stroke. In recent years, carotid web (CW), a non-atherosclerotic disorder of the carotid wall, has been found to be an underestimated source of cerebral emboli. OBJECTIVE: The present study aimed to analyze the clinical, radiological, and pathological findings, along with the treatments performed in patients with CW and ipsilateral ischemic events. METHODS: Patients with anterior circulation ischemic stroke or transient ischemic attack and ipsilateral CW were prospectively included from January 2019 to December 2021. RESULTS: Nine patients were enrolled. The median age was 55 (43-62) years, with a female-to-male ratio of 3.5:1. Of the total, seven patients (78%) consulted for recurrent ipsilateral ischemic events. Despite medical treatment, 44% of the patients experienced new episodes. Computed tomographic angiography was suggestive of CW in all cases in which it was performed. The interval between the first ischemic event and diagnosis of CW was of 13 (6-68) months. After ruling out any other possible etiology, every patient underwent carotid revascularization, one underwent stenting and eight underwent carotidectomy. No severe or long-term complications were noted. Histological studies confirmed the diagnosis of CW. There were no recurrences after carotid revascularization during a follow-up of 24 (13-35) months. CONCLUSION: Knowledge of CW and differentiating it from atheroma plaques is essential, as medical management seems to be insufficient in many cases. Revascularization, which has been shown to be safe and effective, might be the best treatment modality.


Assuntos
Estenose das Carótidas , Endarterectomia das Carótidas , Ataque Isquêmico Transitório , AVC Isquêmico , Placa Aterosclerótica , Acidente Vascular Cerebral , Estenose das Carótidas/complicações , Endarterectomia das Carótidas/efeitos adversos , Feminino , Humanos , Ataque Isquêmico Transitório/etiologia , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/etiologia , Resultado do Tratamento
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