Rare case of gout manifesting as bilateral eyelid lesions

Gout is a systemic disease characterized by monosodium urate crystal deposition triggering inflammation throughout the body. The authors present a case of a 37-year-old female who presented with bilateral eyelid and canthal lesions. The patient had a tan spherical lesion on her left upper lid, a circumscribed flesh-colored nodule at her left medial canthus, and a more pigmented lesion at her right lateral canthus. Following complete excisional biopsy of all lesions, histopathologic analysis revealed pink fibrillary material with histiocytic reaction in all 3 lesions consistent with gout. Only 6 prior cases of eyelid or canthal tophi have been reported, and this study adds a new case to the few existing reports. The authors emphasize that gouty tophi should remain on the differential for eyelid lesions.https://scholarlycommons.henryford.com/merf2020caserpt/1085/thumbnail.jp

Primary CNS Melanoma

A 49-year-old female was referred to Neuro-Ophthalmology for evaluation of bilateral disc edema associated with headache. On initial presentation she was found to have a constricted visual field in her left eye and evidence an atrophic optic disc in the right eye and optic disc edema in the left eye. Evaluation with MRI showed no evidence of a mass lesion and lumbar puncture showed an elevated opening pressure leading to a presumed diagnosis of pseudotumor cerebral eye. The patient was started on treatment with an oral carbonic anhydrase inhibitor and encouraged to attempt weight loss. She was subsequently followed for 4 months with varying doses of oral carbonic anhydrase inhibitor and 62 having 15 lb of weight loss since her initial presentation, however she had no subsequent improvement of her optic disc edema. Two months later she developed new symptoms of nausea, vomiting, and difficulty with her gait which prompted a repeat MRI showing a leptomeningeal pattern of enhancement and nodularity throughout the basal cistern, cerebellum and bilateral temporal lobes with areas of abnormal enhancement in the basilar cisterns do demonstrate some increased signal on T1-weighted images without contrast. Repeat lumbar puncture again showed elevated opening pressure. These findings were concerning for a CNS melanoma and a MRI cervical/thorax/lumbar was performed showing an intrinsically T1 hyperintense, intramedullary mass centered at T2-T3 with larger intradural, extra-medullary component extending into the ventral CSF space of the upper thoracic spine suggestive of primary melanotic spinal cord melanoma. A laminectomy from C7 to T3 was performed and pathology revealed metastatic melanoma. A full dermatologic exam was performed revealing vision all sites consistent with melanoma, suggesting the diagnosis of a primary CNS melanoma. The patient was started on systemic chemotherapy per medical oncology and received 1 of fusion, unfortunately she had rapid decline in subsequently died 5 weeks after diagnosis. Primary CNS melanoma is uncommon and constitute approximately 1% of all melanoma cases and 0.07% of all brain tumors, median survival is generally only 10 weeks after there is leptomeningeal spread.https://scholarlycommons.henryford.com/merf2020caserpt/1075/thumbnail.jp

Nasolacrimal Duct Obstruction Caused by Primary Lacrimal Sac Adenocarcinoma

Background: Primary lacrimal sac tumors are a group of rare, highly malignant group of orbital neoplasms. Early diagnosis is critical, but often delayed, as these tumors are commonly mistaken for comparatively benign conditions. To our knowledge, there are less than 15 published cases of primary lacrimal sac adenocarcinoma. Purpose: To report a rare case of primary lacrimal sac adenocarcinoma with surgical removal and reconstruction by oculoplastics, orthopedic surgery and otolaryngology. Methods: Interventional Case Report. Results: A 55-year-old woman presented with six months of right periocular edema and tearing. Lacrimal gland irrigation revealed a nasolacrimal duct obstruction (NLDO). She underwent dacryocystorhinostomy (DCR) with Crawford stent placement for presumed chronic dacryocystis (lacrimal sac infection). Lacrimal sac pathology was unremarkable. One year later, she presented with recurrent symptoms. CT of the orbits showed a right nasolacrimal mass extending from the lacrimal fossa through an enlarged nasolacrimal duct. Nasal endoscopic biopsy with otolaryngology demonstrated poorly-differentiated glandular structures with AE1/AE3 and CK7 positivity, diagnostic for adenocarcinoma. PET-CT showed no other areas of hypermetabolic activity so she was determined to have Stage II (T2N0M0) poorly differentiated carcinoma. The patient was discussed at tumor board. Surgical intervention with adjuvant radiation therapy was recommended. Oculoplastics, otolaryngology and orthopedic surgery collaborated in a 13 hour lacrimal sac excision and orbital reconstruction. After dacryocystectomy and frozen sections, she was determined to have clear surgical margins (\u3c1mm). The orbital floor, inferior rim and medial wall were repaired with a porous polyethylene coated titanium fan implant. The eye was spared and never incised. A harvested forearm graft of radial bone and forearm tissue reconstructed the right maxilla. Anastomoses of the radial artery to facial artery was performed. Tissues were closed with the aid of a rotational forehead flap. Over the last three months, radiation oncology has administered 60Gy of radiation. Fortunately, she has had no evidence of tumor recurrence or metastases. She continues to follow closely with oculoplastics, otolaryngology, orthopedic surgery and radiation oncology. Conclusion: Primary lacrimal sac tumors are exceedingly difficult to diagnose and treat, necessitating a multidisciplinary collaboration between medical specialties. Our case represents a treatment paradigm for eye sparing primary lacrimal sac adenocarcinoma excision and reconstruction. Continued medical provider education and improved treatment algorithms are essential to maximize patient outcomes.https://scholarlycommons.henryford.com/merf2019caserpt/1062/thumbnail.jp

Comparing Intern Year Preparedness for an Integrated Ophthalmology Residency

Purpose: Timely utilization of postgraduate training for ophthalmology residency is highly variable in the first year of intern training. As residency programs shift towards integrating and optimizing training time, there is no definitive guide of how to construct the first postgraduate year (PGY-1). Methods: This study is a prospective longitudinal study of new PGY-2 residents. All residents were surveyed in their first two months of ophthalmology training. Residents were asked to self-assess preparedness for ophthalmology based on their PGY1 year training curriculum. A survey was composed based on a modified assessment of training from the Accreditation Council for Graduate Medical Education (ACGME). A paired t-test model and Spearman correlation coefficient were used to determine the differences between the PGY1 training models. Results: There were 72 PGY-2 residents who responded to blinded surveys from July to August of 2017 and 2018. 39 (54%) were transitional year (TY), and 28 (39%) were preliminary internal medicine year (IM), 3 (4%) were preliminary surgery year (SY), and 2 (3%) were categorical ophthalmology (CO) year residents. CO and SY were excluded from comparison due to their low sample size. There was a statistical difference in the variable of number of ophthalmology training weeks between the IM and TY training year (p=0.027). Using weeks of ophthalmology as a control, there was a difference in preparedness for addressing the ophthalmic complaint (p=0.008) at 8 weeks of clinical ophthalmology, obtaining history and formulating diagnoses (p=0.003) at 10 weeks, performing ophthalmic exam (p=0.040) at 12 weeks, and proficiency with electronic health record (P=0.031) at 12 weeks. Conclusions: Our study shows there is no difference in perceived preparedness in comparing a TY to an IM program. However, with 8-12 weeks of clinical ophthalmology, there was a difference for preparedness in formulating ophthalmic diagnoses, performing the ophthalmic exam, obtaining adequate history, and proficiency with using electronic medical records. As additional number of months of ophthalmology do not directly improve all aspects of resident preparedness, it may be prudent to find additional solutions to maximize resident training. However, further studies are needed to compare the current paradigm to an integrated ophthalmology residency

T2 magnetic resonance assay and detection of ocular candidiasis

Purpose : T2 magnetic resonance (T2MR) assay for diagnosis of candidemia is a new nanodiagnostic approach to detect amplified DNA of candida species from whole blood specimens without the need for prior isolation. This assay only takes a few hours, compared to days for traditional fungal blood culture, and it has reported sensitivity of 89% to 98%. However, no studies have investigated whether T2MR is superior to traditional cultures in detecting ocular candidemia complications, namely infectious chorioretinitis and endophthalmitis. We performed a retrospective clinical study to examine sensitivity of T2MR for ocular candidiasis. Methods : All inpatient ophthalmology consultations for ocular candidiasis at Henry Ford Hospital, an urban tertiary-care academic hospital, between August 2015 and December 2017 were reviewed. Clinical and microbiology data were collected from inpatient records. Patients were diagnosed with \u27definite ocular involvement\u27 if dilated exam revealed evidence of chorioretinitis or endophthalmitis. \u27Suspicious for chorioretinitis\u27 was defined as lesions initially thought to be candida but later determined to be other pathology. Results : Of 164 patients included in our study, 99 (60%) were T2MR positive while 120 (73%) were blood culture positive. Ophthalmologic exam found 22 patients (13%) had definite ocular candida infections, a higher rate than other reports using blood culture for diagnosis. Of these, 20 patients had chorioretinitis and 2 had endophthalmitis. Eleven patients (7%) were suspicious for chorioretinitis; and 131 patients (80%) with no evidence of ocular involvement. One case required immediate intravitreal injection. This case was diagnosed by blood culture as T2MR was not properly collected. Only one other patient developed endophthalmitis during admission and underwent intravitreal injection. This patient had positive T2MR and blood cultures. Sensitivity of T2MR was 75% for those with definite chorioretinitis as compared to 64% for blood cultures. However, there were no statistically significant differences between the two tests among the three categories. Conclusions : Our results indicate that T2MR assay may be more sensitive than blood cultures for detecting ocular complications of candidemia. T2MR is a useful tool in management of candidemia as it is much faster than blood cultures which allows for earlier ophthalmologic examination and intervention on patients with ocular candida infections

Visual Field Mean Deviation at Diagnosis of Idiopathic Intracranial Hypertension Predicts Visual Outcome

Background: A robust predictor of visual outcome in idiopathic intracranial hypertension (IIH) would be useful in management, but there is limited information on this point. The purpose of this study was to ascertain whether visual field mean deviation on standard static perimetry performed at diagnosis in a large patient cohort is a reliable predictor of visual outcome. Methods: We retrospectively reviewed the automated visual field mean deviations at diagnosis and at final encounter in 79 patients with IIH examined in the neuro-ophthalmology clinics at a single academic medical center from 1999 to 2015. Results: Of the 79 study patients, 66 (84%) entered with visual field mean deviations of -7 dB or better. Of those 66 patients, 59 (89%) had final mean deviations of -4 dB or better and 33 (56%) had final mean deviations of -2 dB or better. The single patient who had an initial mean deviation of -7 dB or better and a poor final mean deviation (-32 dB) was nonadherent to prescribed medication. Of the 13 (21%) patients who entered with mean deviations worse than -7 dB, 11 (85%) ended up with poor visual outcomes, their final mean deviations ranging from -5 dB to -32 dB. Over half of those 13 patients had required surgery for IIH, often within 3 weeks of diagnosis, owing to severe papilledema and visual dysfunction at the time of diagnosis. Conclusions: Based on this retrospective study, patients with IIH who have relatively mild visual dysfunction at diagnosis are likely to have a favorable visual outcome, provided they are adherent to recommended treatment. Many of those with poor visual function at diagnosis will have unfavorable visual outcomes despite aggressive treatment

Ciliochoroidal effusion syndrome with central serous-like chorioretinopathy and secondary angle closure following exogenous testosterone use

Purpose: To report a unique presentation of ciliochoroidal effusion syndrome with central serous-like chorioretinopathy and secondary angle closure following exogenous testosterone use. Observations: A 37 year-old man presented with a two week history of blurred vision, elevated intraocular pressure, and myopic shift in his right eye. Gonioscopy showed angle closure. After YAG iridotomy, ultrasound biomicroscopy (UBM) showed ciliochoroidal effusion and anterior rotation of the ciliary processes. Subsequent color fundus photography, enhanced depth imaging optical coherence tomography (EDI-OCT) and near-infrared reduced-illuminance autofluorescence imaging (NIR-RAFI) showed macular striae, choroidal folds, and increased choroidal thickness without presence of subretinal fluid (SRF) or pigment epithelial detachment (PED). Further questioning revealed the patient was using dermal testosterone gel for six months for treatment of hypogonadism. The patient stopped using the testosterone gel, and his visual acuity and intraocular pressure significantly improved six weeks later. Follow-up UBM showed significant improvement of the ciliochoroidal effusion, and repeat multimodal images demonstrated resolution of the macular striae and choroidal folds, and slightly improved choroidal thickness. Conclusions and importance: Our patient demonstrates a rare case of ciliochoroidal effusion, central serous-like chorioretinopathy, and secondary angle closure that dramatically improved with cessation of testosterone. We believe that this unique clinical constellation is the first to be reported associated with exogenous testosterone use

A functionally characterized test set of human induced pluripotent stem cells

Previous work has suggested that induced pluripotent stem cells (iPSCs) are inferior to embryonic stem cells (ESCs) with respect to in vitro differentiation, raising questions about the utility of iPSCs for disease modeling. Characterization of a test set of 16 human iPSC lines shows that they perform as well as ESCs in differentiating to motor neurons

Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1

Direct electrical recording and stimulation of neural activity using micro-fabricated silicon and metal micro-wire probes have contributed extensively to basic neuroscience and therapeutic applications; however, the dimensional and mechanical mismatch of these probes with the brain tissue limits their stability in chronic implants and decreases the neuron–device contact. Here, we demonstrate the realization of a three-dimensional macroporous nanoelectronic brain probe that combines ultra-flexibility and subcellular feature sizes to overcome these limitations. Built-in strains controlling the local geometry of the macroporous devices are designed to optimize the neuron/probe interface and to promote integration with the brain tissue while introducing minimal mechanical perturbation. The ultra-flexible probes were implanted frozen into rodent brains and used to record multiplexed local field potentials and single-unit action potentials from the somatosensory cortex. Significantly, histology analysis revealed filling-in of neural tissue through the macroporous network and attractive neuron–probe interactions, consistent with long-term biocompatibility of the device.Stem Cell and Regenerative Biolog