Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 gene.

Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder characterized by the progressive damage of the peripheral nerves. We generated a human induced pluripotent stem cell (iPSC) line JUCTCi019-A using dermal fibroblasts-derived from a 50-year-old CMT2A2 patient carrying a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in the MFN2 gene. Fibroblasts were reprogrammed by Sendai viruses encoding for the reprogramming factors: OCT4, SOX2, KLF4 and c-MYC. Characterization showed normal iPSC morphology and karyotype, expression of pluripotency markers and differentiation into three-germ layers. This iPSC line represents an ideal source for disease modelling and drug development of CMT2A2 disease.

Dysphagia as the Presenting Symptom of Laryngeal Tuberculosis.

Laryngeal tuberculosis (TB) is a rare form of tuberculosis that most commonly presents with dysphagia and weight loss. We report a case of a 75-year-old Vietnamese male who presented with dysphagia, odynophagia, and a 30-pound weight loss over the two months prior to presentation. Nasopharyngeal evaluation with microdirect laryngoscopy was performed as part of the workup and revealed lesions of the epiglottis and left vocal cord. A tissue biopsy and quantiferon testing confirmed the diagnosis of tuberculosis. The patient was started on quadruple therapy and is currently receiving treatment. This case highlights the need for consideration of the rare, yet important, differential of laryngeal TB in patients presenting with non-specific complaints such as dysphagia and weight loss.

A Novel Case of Cytomegalovirus Pneumonia in an Acquired Thrombotic Thrombocytopenic Purpura Patient Treated With Rituximab.

Thrombotic thrombocytopenic purpura (TTP) is thrombotic microangiopathy that is universally fatal if not promptly recognized and treated. Standard treatment includes plasma exchange (PLEX) therapy and immunosuppression. We present a case of an 80 years old African American male with a past medical history significant for essential hypertension, chronic obstructive pulmonary disease, and a recent TTP diagnosis for which he was treated with PLEX, glucocorticoids, and rituximab. The patient presented with complaints of shortness of breath of four days duration. He was hypoxemic on presentation; other vital signs were within normal limits. The basic metabolic panel and complete blood count were unremarkable. A computed tomography (CT) of the chest with contrast showed right lower lobe segmental and subsegmental pulmonary emboli. He was initiated on intravenous heparin therapy. During hospitalization, he had progressive clinical deterioration with progressive hypoxemia. A repeat CT scan demonstrated bilateral pulmonary infiltrates. The patient underwent bronchoscopy due to concerns of opportunistic infections in view of his recent immunosuppressive treatment. Bronchoalveolar lavage revealed cytomegalovirus (CMV), and the patient was initiated on ganciclovir. CMV pneumonia has been reported after rituximab therapy in patients with lymphomas and lymphoproliferative disorders. To our knowledge, this is the first case of CMV pneumonia after rituximab therapy in a patient with TTP.

The Value of Screening for Bicuspid Aortic Valve in First Degree Family Members.

A 54-year-old male with a history of hypertension, diabetes, and sleep apnea presented with a two-week history of dyspnea. The patient was hypoxic with bilateral leg edema. Initial workup showed elevated troponin at 0.15 ng/mL, brain natriuretic peptide of 720 pg/mL, and hyponatremia. Chest X-ray revealed lungs infiltrates with possible pneumonia. An electrocardiogram showed sinus tachycardia and ST depression in septal leads. He received diuretics and antibiotics for fluid overload and pneumonia. Blood culture showed methicillin-sensitive staphylococcus aureus (MSSA). Transthoracic echocardiogram (TTE) revealed a left ventricle ejection fraction (LVEF) of 55-60%, a bicuspid aortic valve (BAV) with mild aortic stenosis and calcification, and an ascending aortic aneurysm of 4.2 cm, though no vegetations. A transesophageal echocardiogram (TEE) demonstrated the BAV, 1.4 cm mobile vegetation, an abscess on the aortic annulus, severe aortic regurgitation, and 4.6 cm ascending aortic aneurysm. He underwent aortic valve replacement, ascending aortoplasty, and coronary artery bypass grafting. He was discharged with eight weeks of antibiotics after a good recovery with resolution of fever, dyspnea, and bacteremia. His son was diagnosed with BAV earlier. Consequently, by screening echocardiogram and education, our patient could have avoided complications of severe infective endocarditis.