RESUMEN
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.
Asunto(s)
Neoplasias de las Glándulas Suprarrenales , Feocromocitoma , Neoplasias de las Glándulas Suprarrenales/genética , Proteína Adaptadora GRB2 , Fusión Génica , Humanos , Mutación , Proteínas Oncogénicas , Oncogenes , Feocromocitoma/genética , Proteínas Proto-Oncogénicas c-ret/genéticaRESUMEN
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.
RESUMEN
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¯7.80â¯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 (ORâ¯=â¯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.
Asunto(s)
Estenosis de la Válvula Aórtica/cirugía , Cateterismo Periférico , Arteria Femoral , Enfermedad Arterial Periférica/epidemiología , Reemplazo de la Válvula Aórtica Transcatéter , Anciano , Anciano de 80 o más Años , Estenosis de la Válvula Aórtica/diagnóstico por imagen , Estenosis de la Válvula Aórtica/mortalidad , Cateterismo Periférico/efectos adversos , Cateterismo Periférico/mortalidad , Bases de Datos Factuales , Femenino , Mortalidad Hospitalaria , Humanos , Pacientes Internos , Tiempo de Internación , Masculino , Alta del Paciente , Enfermedad Arterial Periférica/diagnóstico , Enfermedad Arterial Periférica/mortalidad , Punciones , Factores de Riesgo , Factores de Tiempo , Reemplazo de la Válvula Aórtica Transcatéter/efectos adversos , Reemplazo de la Válvula Aórtica Transcatéter/mortalidad , Resultado del Tratamiento , Estados Unidos/epidemiologíaRESUMEN
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.
Asunto(s)
Fibrilación Atrial/etiología , Bloqueo Atrioventricular/etiología , Enfermedad de Lyme/diagnóstico , Miocarditis/diagnóstico , Administración Intravenosa , Antibacterianos/uso terapéutico , Fibrilación Atrial/diagnóstico , Fibrilación Atrial/fisiopatología , Bloqueo Atrioventricular/diagnóstico , Bloqueo Atrioventricular/fisiopatología , Western Blotting/métodos , Ceftriaxona/administración & dosificación , Ceftriaxona/uso terapéutico , Electrocardiografía , Humanos , Enfermedad de Lyme/complicaciones , Enfermedad de Lyme/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Enfermedades Raras , Síncope/etiología , Resultado del TratamientoRESUMEN
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.
Asunto(s)
Enfermedades del Sistema Nervioso Autónomo/etiología , Rubor/etiología , Hipohidrosis/etiología , Traumatismos Torácicos/complicaciones , Heridas por Arma de Fuego/complicaciones , Adulto , Enfermedades del Sistema Nervioso Autónomo/diagnóstico por imagen , Dolor en el Pecho/etiología , Rubor/diagnóstico por imagen , Humanos , Hipohidrosis/diagnóstico por imagen , Masculino , Traumatismos Torácicos/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Heridas por Arma de Fuego/diagnóstico por imagenRESUMEN
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 125â bpm. The patient had experienced blurred vision in his left eye and was diagnosed with ocular neurosyphilis 10â 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 1826â U/L, alanine aminotransferase of 1743â U/L, total bilirubin of 1.2â mg/dL and alkaline phosphatase of 68â 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 2â weeks after discharge from hospital.
Asunto(s)
Enfermedad Hepática Inducida por Sustancias y Drogas/etiología , Oftalmopatías/tratamiento farmacológico , Oftalmopatías/microbiología , Neurosífilis/tratamiento farmacológico , Penicilinas/efectos adversos , Antibacterianos/efectos adversos , Humanos , Hígado/efectos de los fármacos , Pruebas de Función Hepática , Masculino , Persona de Mediana EdadRESUMEN
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.