10 research outputs found
Cantú syndrome with coexisting familial pituitary adenoma
Context: Pseudoacromegaly describes conditions with an acromegaly related physical appearance without abnormalities in the growth hormone (GH) axis. Acromegaloid facies, together with hypertrichosis, are typical manifestations of Cantú syndrome. Case description: We present a three-generation family with 5 affected members, with marked acromegaloid facies and prominent hypertrichosis, due to a novel missense variant in the ABCC9 gene. The proband, a 2-year-old girl, was referred due to marked hypertrichosis, noticed soon after birth, associated with coarsening of her facial appearance. Her endocrine assessment, including of the GH axis, was normal. The proband's father, paternal aunt, and half-sibling were referred to the Endocrine department for exclusion of acromegaly. Although the GH axis was normal in all, two subjects had clinically non-functioning pituitary macroadenomas, a feature which has not previously been associated with Cantú syndrome. Conclusions: Activating mutations in the ABCC9 and, less commonly, KCNJ8 genes—representing the two subunits of the ATP-sensitive potassium channel—have been linked with Cantú syndrome. Interestingly, minoxidil, a well-known ATP-sensitive potassium channel agonist, can cause a similar phenotype. There is no clear explanation why activating this channel would lead to acromegaloid features or hypertrichosis. This report raises awareness for this complex condition, especially for adult or pediatric endocrinologists who might see these patients referred for evaluation of acromegaloid features or hirsutism. The link between Cantú syndrome and pituitary adenomas is currently unclear
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Evaluating an Oncology Video Curriculum Designed to Promote Asynchronous Subspecialty Learning for Internal Medicine Residents.
Internal medicine (IM) residents frequently see patients in subspecialty clinics. However, there are few published core subspecialty curricula targeted to residents' learning and practical needs, and little guidance exists regarding delivery of core subspecialty content to residents rotating across multiple clinical sites. Our study objective was to evaluate a novel oncology video curriculum for IM residents as a model for asynchronous subspecialty resident learning. Using the cognitive theory of multimedia learning, we developed a five-part oncology video curriculum targeted specifically to the needs of IM residents. All second- and third-year residents rotating in oncology clinics from October 2018 to March 2019 at a single training program were invited to participate. We evaluated curricular demand, efficacy, and acceptability, using completion rates, knowledge tests, and a survey. Twenty-eight of 31 (90.3%) residents utilized the curriculum. Resident knowledge improved after utilizing the modules, by 36.9% from pre- to posttests (95% CI [31.3-42.5]; P<0.001) and 13.7% from pre- to delayed posttests (95% CI [7.5-20.0]; P<0.001). Twenty-four of 31 (77.4%) answered the survey. Most residents agreed or strongly agreed that the curriculum contributed to their knowledge (95.2%) and added educational value beyond the clinical rotation (93.1%). Our curriculum evaluation supports the asynchronous delivery of oncology education targeted to the learning needs of IM residents using a novel core video curriculum. These curricular methods provide a model for delivering subspecialty education to IM residents with complex and busy schedules
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VITT following Ad26.COV2.S vaccination presenting without radiographically demonstrable thrombosis
We report a case of vaccine-induced immune thrombotic thrombocytopenia (VITT) in a young man diagnosed 13 days after Ad26.COV2.S COVID-19 (Johnson & Johnson/Janssen) vaccination. He presented to us with 5 days of progressive left leg pain, thrombocytopenia, hypofibrinogenemia, and markedly elevated d-dimers, but without radiographically demonstrable thrombosis. Despite negative imaging, we initiated treatment of presumptive VITT given the striking clinical picture that included the timing of his recent adenovirus-based COVID-19 vaccine, leg symptoms, marked thrombocytopenia, and consumptive coagulopathy. He received intravenous immune globulin, prednisone, and argatroban and was discharged 7 days later much improved. His positive platelet factor 4 enzyme-linked immunosorbent assay antibody test returned after treatment was initiated. To our knowledge, this is the first reported case of VITT following Ad26.COV2.S vaccination presenting without radiographically demonstrable thrombosis. Our patient highlights the importance of knowing vaccine status and initiating treatment as soon as possible in the right clinical setting, even in the absence of radiographic evidence of thrombus. Early VITT recognition and treatment provide an opportunity to prevent serious thrombotic complications
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Disseminated Acanthamoeba infection in a heart transplant recipient treated successfully with a miltefosine-containing regimen: Case report and review of the literature.
Disseminated acanthamoebiasis is a rare, often fatal, infection most commonly affecting immunocompromised patients. We report a case involving sinuses, skin, and bone in a 60-year-old woman 5 months after heart transplantation. She improved with a combination of flucytosine, fluconazole, miltefosine, and decreased immunosuppression. To our knowledge, this is the first case of successfully treated disseminated acanthamoebiasis in a heart transplant recipient and only the second successful use of miltefosine for this infection among solid organ transplant recipients. Acanthamoeba infection should be considered in transplant recipients with evidence of skin, central nervous system, and sinus infections that are unresponsive to antibiotics. Miltefosine may represent an effective component of a multidrug therapeutic regimen for the treatment of this amoebic infection