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1.
Cell Rep Med ; 3(7): 100686, 2022 07 19.
Artigo em Inglês | MEDLINE | ID: mdl-35858593

RESUMO

The RET kinase receptor is a target of mutations in neural crest tumors, including pheochromocytomas, and of oncogenic fusions in epithelial cancers. We report a RET::GRB2 fusion in a pheochromocytoma in which RET, functioning as the upstream partner, retains its kinase domain but loses critical C-terminal motifs and is fused to GRB2, a physiological RET interacting protein. RET::GRB2 is an oncogenic driver that leads to constitutive, ligand-independent RET signaling; has transforming capability dependent on RET catalytic function; and is sensitive to RET inhibitors. These observations highlight a new driver event in pheochromocytomas potentially amenable for RET-driven therapy.


Assuntos
Neoplasias das Glândulas Suprarrenais , Feocromocitoma , Neoplasias das Glândulas Suprarrenais/genética , Proteína Adaptadora GRB2 , Fusão Gênica , Humanos , Mutação , Proteínas Oncogênicas , Oncogenes , Feocromocitoma/genética , Proteínas Proto-Oncogênicas c-ret/genética
2.
Clin Med Insights Case Rep ; 13: 1179547620965559, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33192113

RESUMO

Post-cardiac injury syndrome (PCIS) is presumed to be an immune-mediated process. It affects the pericardium and, to a lesser extent, the epicardium, myocardium, and pleura. It has been rarely reported following pacemaker insertion with an estimated incidence of 1% to 2%. We present the case of a 62-year-old female who developed PCIS 8 weeks following pacemaker insertion. She presented with impending cardiac tamponade requiring pericardiocentesis; recurrent pleural effusions subsequently complicated her condition. The pleural effusion recurred despite trials of steroids, eventually requiring talc pleurodesis. This case highlights the need to consider PCIS as a possible etiology of recurrent pleural effusion following pacemaker insertion.

3.
Cardiovasc Revasc Med ; 21(5): 604-609, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-31757744

RESUMO

BACKGROUND: There is a paucity of data regarding outcomes with transfemoral (TF) versus transapical (TA) access for transcatheter aortic valve replacement (TAVR) in patients with peripheral artery disease (PAD). METHODS: We queried the national inpatient sample database (NIS) (2012-2013) to identify patients with PAD who underwent TAVR. We conducted a propensity matching analysis using 25 clinical variables to compare TF-TAVR versus TA-TAVR. The main outcome was in-hospital mortality. RESULTS: The analysis included 22,349 patients who underwent TAVR, among those 6692 (29.9%) had PAD. In the matched cohort, in-hospital mortality was similar between TF-TAVR and TA-TAVR groups (4.8% vs. 5.1%, OR 0.95; 95%CI 0.74-1.21). TF-TAVR was associated with lower rates of cardiogenic shock (OR 0.64; 95%CI 0.50-0.82), use of mechanical circulatory support (OR 0.56; 95%CI 0.42-0.75), acute kidney injury (OR 0.76; 95%CI 0.67-0.86), hemodialysis (OR 0.51; 95%CI 0.36-0.71), major bleeding (OR 0.72; 95%CI 0.64-0.80), blood transfusion (OR 0.65; 95%CI 0.58-0.73), discharge to a skilled nursing facility (OR 0.61; 95%CI 0.54-0.68) as well as shorter length of hospital stay (8.13 ±â€¯6.76 vs. 10.11 ±â€¯7.80 days) compared with TA-TAVR. However, TF-TAVR was associated with higher rate of vascular complications (11.7% vs. 3.7%, OR 3.40; 95%CI 2.63-4.38), complete heart block (OR 1.52; 95%CI 1.23-1.87), and pacemaker insertion (OR = 1.58; 95%CI: 1.28-1.94). There was no difference between both groups in the rate of cerebrovascular accidents (OR 1.26; 95%CI 0.93-1.72). CONCLUSION: In this observational analysis from a large national database, there was no difference in in-hospital mortality between TF-TAVR and TA-TAVR among patients with PAD. Further studies are encouraged to identify the optimal access for TAVR in patients with PAD.


Assuntos
Estenose da Valva Aórtica/cirurgia , Cateterismo Periférico , Artéria Femoral , Doença Arterial Periférica/epidemiologia , Substituição da Valva Aórtica Transcateter , Idoso , Idoso de 80 Anos ou mais , Estenose da Valva Aórtica/diagnóstico por imagem , Estenose da Valva Aórtica/mortalidade , Cateterismo Periférico/efeitos adversos , Cateterismo Periférico/mortalidade , Bases de Dados Factuais , Feminino , Mortalidade Hospitalar , Humanos , Pacientes Internados , Tempo de Internação , Masculino , Alta do Paciente , Doença Arterial Periférica/diagnóstico , Doença Arterial Periférica/mortalidade , Punções , Fatores de Risco , Fatores de Tempo , Substituição da Valva Aórtica Transcateter/efeitos adversos , Substituição da Valva Aórtica Transcateter/mortalidade , Resultado do Tratamento , Estados Unidos/epidemiologia
4.
BMJ Case Rep ; 12(4)2019 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-31036741

RESUMO

The incidence of Lyme disease in the USA is 8 per 100 000 cases and 95% of those occur in the Northeastern region. Cardiac involvement occurs in only 1% of untreated patients. We describe the case of a 46-year-old man who presented with chest pressure, dyspnoea, palpitations and syncope. He presented initially with atrial fibrillation with rapid ventricular response, a rare manifestation of Lyme carditis. In another hospital presentation, he had varying degrees of atrioventricular block including Mobitz I second-degree heart block. After appropriate antibiotic treatment, he made a full recovery and his ECG normalised. The authors aim to urge physicians treating patients in endemic areas to consider Lyme carditis in the workup for patients with atrial fibrillation and unexplained heart block, as the associated atrioventricular nodal complications may be fatal.


Assuntos
Fibrilação Atrial/etiologia , Bloqueio Atrioventricular/etiologia , Doença de Lyme/diagnóstico , Miocardite/diagnóstico , Administração Intravenosa , Antibacterianos/uso terapêutico , Fibrilação Atrial/diagnóstico , Fibrilação Atrial/fisiopatologia , Bloqueio Atrioventricular/diagnóstico , Bloqueio Atrioventricular/fisiopatologia , Western Blotting/métodos , Ceftriaxona/administração & dosagem , Ceftriaxona/uso terapêutico , Eletrocardiografia , Humanos , Doença de Lyme/complicações , Doença de Lyme/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Doenças Raras , Síncope/etiologia , Resultado do Tratamento
5.
Artigo em Inglês | MEDLINE | ID: mdl-30788080

RESUMO

Immune thrombocytopenic purpura (ITP) is a bleeding disorder characterized by isolated thrombocytopenia (platelet count <150,000 u/L), which is not associated with a systemic illness. ITP is reported in approximately 2 per 100,000 adults. The mean age of diagnosis is 50 years. ITP is more common in females of childbearing age and in pregnancy. In adults, the course is more chronic although spontaneous remission can also occur within months of initial diagnosis. A thorough and timely workup of thrombocytopenia is imperative to rule out other differentials of ITP as it is considered a diagnosis of exclusion. Primary care physicians encounter patients who exhibit signs of thrombocytopenia such as petechiae or purpura on a regular basis. A high index of clinical suspicion is required to accurately diagnose ITP and commence the appropriate treatment including glucocorticoids to increase the chances of a favorable prognosis as described by the authors.

7.
BMJ Case Rep ; 20162016 Jul 13.
Artigo em Inglês | MEDLINE | ID: mdl-27413024

RESUMO

Ehlers-Danlos syndrome (EDS) is a group of heritable disorders characterised by vast clinical heterogeneity ranging from the classic constellation of symptoms including skin hyperextensibility, joint hypermobility and skin fragility to the exceedingly critical consequences of arterial rupture and visceral perforation. We describe the case of a 65-year-old male with a history of classic EDS who reported of dyspnoea on exertion, orthopnoea, fatigue and palpitations. He was found to have dilated cardiomyopathy with an ejection fraction of 35%, aortic root dilation and severe aortic valve regurgitation. The authors intend to draw attention to the rare cardiac manifestations of this condition and the therapeutic challenges involved in managing such patients.


Assuntos
Aorta/fisiopatologia , Insuficiência da Valva Aórtica/complicações , Cardiomiopatia Dilatada/complicações , Síndrome de Ehlers-Danlos/complicações , Idoso , Evolução Fatal , Humanos , Masculino
8.
BMJ Case Rep ; 20162016 Jul 07.
Artigo em Inglês | MEDLINE | ID: mdl-27389728

RESUMO

A 51-year-old man, homosexual, recently diagnosed with ocular neurosyphilis, presented to the emergency room with a 1-day history of fevers and chills. His vital signs were significant for a temperature of 102.8°F and tachycardia of 125 bpm. The patient had experienced blurred vision in his left eye and was diagnosed with ocular neurosyphilis 10 days prior to the current presentation. He was treated with a 14-day course of high-dose intravenous penicillin and oral prednisone. His laboratory studies were significant for transaminitis, with an aspartate aminotransferase of 1826 U/L, alanine aminotransferase of 1743 U/L, total bilirubin of 1.2 mg/dL and alkaline phosphatase of 68 U/L. After ruling out viral aetiologies and toxin-induced hepatic injury, penicillin was discontinued on the day following admission and transaminases promptly improved with resolution of symptoms. The patient's vision returned to normal within 2 weeks after discharge from hospital.


Assuntos
Doença Hepática Induzida por Substâncias e Drogas/etiologia , Oftalmopatias/tratamento farmacológico , Oftalmopatias/microbiologia , Neurossífilis/tratamento farmacológico , Penicilinas/efeitos adversos , Antibacterianos/efeitos adversos , Humanos , Fígado/efeitos dos fármacos , Testes de Função Hepática , Masculino , Pessoa de Meia-Idade
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