J Surg Case Rep
February 2024
Muir-Torre syndrome (MTS) is a rare subtype of hereditary nonpolyposis colorectal cancer syndrome caused by a defect in DNA mismatch repair leading to microsatellite instability. It is characterized by the presence of at least one sebaceous gland tumor and one internal malignancy, most commonly colorectal and endometrial tumors. These patients have a high propensity for tumorigenesis, and while strict screening protocols are in place, there are only two cases that describe the management approach to recurrent colon cancer.
View Article and Find Full Text PDFBackground: Patients with locally advanced or metastatic urothelial carcinoma have limited treatment options and a poor prognosis. The JAVELIN Bladder 100 trial showed that avelumab as first-line maintenance plus best supportive care significantly prolonged overall survival and progression-free survival versus best supportive care alone in patients with locally advanced or metastatic urothelial carcinoma that had not progressed with first-line platinum-containing chemotherapy.
Aims: We assessed whether avelumab plus best supportive care is a cost-effective treatment option versus best supportive care alone in this patient group in Taiwan.
Cancer Rep (Hoboken)
December 2021
Background: Metastatic Merkel cell carcinoma (mMCC) has traditionally been managed with palliative chemotherapy regimens or best supportive care (BSC). Avelumab, a novel anti-programmed death-ligand 1 (PD-L1) human monoclonal antibody for mMCC treatment, is being studied in the pivotal JAVELIN Merkel 200 trial.
Aim: Incorporating trial results, this analysis aimed to evaluate the cost-utility of avelumab in Taiwan.
The use of social media at academic conferences is expanding, and platforms such as Twitter are used to share meeting content with the world. Pathology conferences are no exception, and recently, pathology organizations have promoted social media as a way to enhance meeting exposure. A social media committee was formed ad hoc to implement strategies to enhance social media involvement and coverage at the 2018 and 2019 annual meetings of the Association of Pathology Chairs.
View Article and Find Full Text PDFThis paper describes a pilot of an innovation to TBL™ as a means to add a fifth "S", self-directed learning (SDL) and life-long learning (LLL), to the 4S application exercise framework. It is important for TBL™ to explicitly address SDL and LLL to enhance student learning and meet accreditation standards.
View Article and Find Full Text PDFMINT2/APBA2 is a synaptic adaptor protein involved in excitatory synaptic transmission. Several nonsynonymous coding variants in MINT2 have been identified in autism spectrum disorders (ASDs); however, these rare variants have not been examined functionally and the pathogenic mechanisms are unknown. Here, we examined the synaptic effects of rat Mint2 N723S mutation (equivalent to autism-linked human MINT2 N722S mutation) which targets a conserved asparagine residue in the second PDZ domain of Mint2 that binds to neurexin-1α (Nrxn1α), a presynaptic cell-adhesion protein implicated in ASDs.
View Article and Find Full Text PDFIntroduction: To present a case of an epithelial inclusion cyst masquerading as an inadvertent bleb in a patient with Marfan syndrome.
Case Report: A woman with Marfan syndrome presented with a subluxed crystalline lens in her right eye, which progressively subluxed over the following 2 years. A lensectomy was performed with placement of an anterior chamber intraocular lens (IOL); however, the patient experienced blurred vision and photopsias and preferred IOL explantation.
A 60-year-old woman with history of multiple myeloma was in remission after stem cell transplant 6 years prior. She was undergoing work-up for headaches that were thought to be secondary to a right mastoiditis seen on magnetic resonance imaging (MRI). On routine eye exam, papilloedema was noted.
View Article and Find Full Text PDFOphthalmic Plast Reconstr Surg
September 2017
Purpose: To examine the changes in microscopic anatomy of the lower eyelid tarsal ectropion repair with the Putterman ptosis clamp and better understand the anatomical changes associated with the eyelid malposition correction.
Methods: Ten orbits from 5 fresh frozen cadaver heads, ranging in age from 53 to 77 years, were used for the dissection. For each head, a Putterman clamp tarsal ectropion repair was performed on one side, while the contralateral unoperated orbit served as a control.
We describe 2 unique cases of visual symptoms occurring during mastication in patients with lateral orbital wall defects. A 57-year-old man reported intermittent double vision and oscillopsia after a right fronto-temporal-orbito-zygomatic craniotomy with osteotomy of the lesser wing of the sphenoid for a complex invasive pituitary adenoma. Proptosis of the right globe was present only during mastication.
View Article and Find Full Text PDFThe practice of pathology is not generally addressed in the undergraduate medical school curriculum. It is desirable to develop practical pathology competencies in the fields of anatomic pathology and laboratory medicine for every graduating medical student to facilitate (1) instruction in effective utilization of these services for optimal patient care, (2) recognition of the role of pathologists and laboratory scientists as consultants, and (3) exposure to the field of pathology as a possible career choice. A national committee was formed, including experts in anatomic pathology and/or laboratory medicine and in medical education.
View Article and Find Full Text PDFPurpose: To report a series of patients with fungal orbital cellulitis who underwent exenteration surgery and describe presenting features, management and outcomes at a referral center.
Methods: Retrospective case series.
Results: From November 2011 to March 2014, four patients underwent orbital exenteration for fungal orbital cellulitis at the University of Illinois.
A 71-year-old woman presented with painful vision loss in the right eye followed by ophthalmoplegia. Magnetic resonance imaging demonstrated optic nerve sheath enlargement and enhancement. Biopsy of the optic nerve sheath revealed purulent and necrotic material that was positive for methicillin-sensitive Staphylococcus aureus.
View Article and Find Full Text PDFImportance: Retroprosthetic membrane (RPM) formation is the most common complication associated with the Boston type 1 keratoprosthesis and has been associated with corneal melt.
Objective: To identify the histological and immunohistochemical characteristics of RPMs associated with corneal melt.
Design, Setting, And Participants: Observational histopathological case series at a tertiary eye care referral center among patients who underwent Boston type 1 keratoprosthesis explantation because of donor corneal melt at the Illinois Eye and Ear Infirmary between January 1, 2011, and January 1, 2012.
Trans-activating response region (TAR) DNA-binding protein of 43 kDa (TDP-43) is an RNA-binding protein that is mutated in familial amyotrophic lateral sclerosis (ALS). Disease-linked mutations in TDP-43 increase the tendency of TDP-43 to aggregate, leading to a corresponding increase in formation of stress granules, cytoplasmic protein/RNA complexes that form in response to stress. Although the field has focused on stress granules, TDP-43 also forms other types of RNA granules.
View Article and Find Full Text PDFBackground: Sarcoidosis is an idiopathic, multi-system, granulomatous disease with well-described ocular manifestations. However, other uveitic etiologies can manifest in a similar fashion, and ocular disease may precede systemic manifestations. Definitive diagnosis requires histologic confirmation of non-caseating granulomatous inflammation.
View Article and Find Full Text PDFThis is a case report of a 54-year-old woman with chronic uveitis who developed epithelial downgrowth after an Ahmed valve implantation. The epithelial downgrowth presented in an unusual fashion, as a peritubular fibrovascular membrane. Our case suggests that in patients who have undergone glaucoma drainage implantation with clinical features such as persistent hypotony and atypical inflammatory cells, high clinical suspicion for epithelial downgrowth and careful search for potential fistulas are necessary, even without an obvious wound leak.
View Article and Find Full Text PDFA 23 year old man presented with transient visual obscurations and was found to have optic nerve edema and a thalamic lesion that did not enhance on magnetic resonance imaging. Lumbar puncture opening pressure was normal. Subsequent magnetic resonance images demonstrated optic nerve sheath enhancement.
View Article and Find Full Text PDFThe aim of the study was to estimate the current prevalence of advanced cutaneous malignant melanoma in 2010 in the USA and to project prevalence estimates to the year 2015. An excel-based, multicohort natural disease history model was developed. It used incidence, recurrence, all-cause mortality, and US population data from the up-to-date surveillance, epidemiology, and end results program, the US census, and the literature.
View Article and Find Full Text PDFCell surface heptahelical G protein-coupled receptors (GPCRs) mediate critical cellular signaling pathways and are important pharmaceutical drug targets. (1) In addition to traditional small-molecule approaches, lipopeptide-based GPCR-derived pepducins have emerged as a new class of pharmaceutical agents. (2, 3) To better understand how pepducins interact with targeted receptors, we developed a cell-based photo-cross-linking approach to study the interaction between the pepducin agonist ATI-2341 and its target receptor, chemokine C-X-C-type receptor 4 (CXCR4).
View Article and Find Full Text PDF