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1.
Int J Angiol ; 32(4): 262-268, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37927847

RESUMO

This case study describes a 45-year-old Caucasian male with a past medical history of obesity, hypertension, and non-insulin-dependent diabetes mellitus, who in the setting of coronavirus disease 2019 (COVID-19) pneumonia, developed portal vein thrombosis (PVT) presenting as an acute abdomen after hospital discharge from a cholecystitis episode. PVT is a very infrequent thromboembolic condition, classically occurring in patients with systemic conditions such as cirrhosis, malignancy, pancreatitis, diverticulitis, autoimmunity, and thrombophilia. PVT can cause serious complications, such as intestinal infarction, or even death, if not promptly treated. Due to the limited number of reports in the literature describing PVT in the COVID-19 setting, its prevalence, natural history, mechanism, and precise clinical features remain unknown. Therefore, clinical suspicion should be high for PVT, in any COVID-19 patient who presents with abdominal pain or associated signs and symptoms. To the best of our knowledge, this is the first report of COVID-19-associated PVT causing extensive thrombosis in the portal vein and its right branch, occurring in the setting of early-stage cirrhosis after a preceding episode of cholecystitis.

2.
Clin Breast Cancer ; 22(1): 10-25, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34489172

RESUMO

The development of breast cancer depends on several risk factors, including environmental, lifestyle and genetic factors. Despite the evolution of DNA sequencing techniques and biomarker detection, the epidemiology and mechanisms of various breast cancer susceptibility genes have not been elucidated yet. Dysregulation of the DNA damage response causes genomic instability and increases the rate of mutagenesis and the risk of carcinogenesis. The Fanconi Anemia (FA) pathway is an important component of the DNA damage response and plays a critical role in the repair of DNA interstrand crosslinks and genomic stability. The FA pathway involves 22 recognized genes and specific mutations have been identified as the underlying defect in the majority of FA patients. A thorough understanding of the function and epidemiology of these genes in breast cancer is critical for the development and implementation of individualized therapies that target unique tumor profiles. Targeted therapies (PARP inhibitors) exploiting the FA pathway gene defects have been developed and have shown promising results. This narrative review summarizes the current literature on the involvement of FA genes in sporadic and familial breast cancer with a focus on clinical data derived from large cohorts.


Assuntos
Neoplasias da Mama/metabolismo , Instabilidade Cromossômica , Proteínas de Grupos de Complementação da Anemia de Fanconi/metabolismo , Anemia de Fanconi/metabolismo , Dano ao DNA , Feminino , Instabilidade Genômica , Humanos , Mutação
3.
Cureus ; 13(11): e19993, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34984145

RESUMO

Paraneoplastic rheumatic disorder (RD) is a disorder that may present before, concurrent with, or after the diagnosis of malignancy. Paraneoplastic RDs are a clinical expression of occult cancer that is not directly related to a tumor or metastasis and manifests as rheumatoid symptoms. The RD is determined by the organ system affected by articular, muscular, cutaneous, vascular, or miscellaneous symptoms. Each case is challenging to diagnose because cancer may present with similar symptoms as a common rheumatic disorder. Of note, the majority of cases have minimal responsiveness or no responsiveness to standard rheumatoid treatment. Therefore, it is imperative to recognize and treat the underlying cancer accordingly. Herein, we present four different diagnostic dilemma cases of RD: case #1 - leukocytoclastic vasculitis and C3 glomerulopathy, case #2 - scleroderma, case #3 - Raynaud's syndrome and possible lupus-like syndrome, and case #4 - inflammatory myositis. Institutional IRB approval was obtained for this case series. We will discuss and review the literature on each topic. In addition, we will mention a review of paraneoplastic rheumatoid arthritis. As rheumatic disease is associated with the use of immune checkpoint inhibitors (ICIs) for cancer treatment, we will briefly discuss some of the most common rheumatic presentations in the setting of these drugs. This case review aims to inform clinicians about the atypical presentation of paraneoplastic RD and to highlight the need for interdisciplinary management between rheumatologists, oncologists, and primary care practitioners.

4.
Front Med (Lausanne) ; 8: 698268, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34977051

RESUMO

This case report describes a 60 year-old Black-American male with a past medical history of human immunodeficiency virus (HIV) infection and hyperthyroidism, who suffered a bilateral spontaneous pneumothorax (SP) in the setting of coronavirus disease 2019 (COVID-19) pneumonia. SP is a well-established complication in HIV-positive patients and only recently has been associated with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection. While HIV and COVID-19 infections have been independently linked with increased risk of SP development, it is unknown if both infections interact in a synergistic fashion to exacerbate SP risk. According to the Centers for Disease Control and Prevention (CDC), patients living with HIV have a higher risk of developing severe COVID-19 infection and the mechanism remains to be elucidated. To the best of our knowledge, this is the first report of a HIV-positive patient, who in the setting of SARS-CoV-2 infection, developed bilateral apical spontaneous pneumothorax and was later found to have a left lower lobe tension pneumothorax. This case highlights the importance of considering SP on the differential diagnosis when HIV-positive patients suddenly develop respiratory distress in the setting of SARS-CoV-2 infection.

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