Autoimmune Retinopathy in a Patient with Stiff-Person Syndrome: A Case Report.

PURPOSE: To describe a patient who developed retinal degeneration associated with autoimmune retinopathy (AIR) and who was also found to have anti-glutamic acid decarboxylase (GAD65) autoantibodies and the diagnosis of stiff-person syndrome (SPS). METHODS: Ophthalmologic workup consisted of clinical examination, multi-modality retinal imaging, and electrophysiologic testing. Further neurologic assessment including relevant serum and cerebrospinal fluid studies was also conducted. RESULTS: We highlight the case of a 45-year-old patient who developed subacute, sequential vision loss, along with bilateral lower extremity weakness. On initial presentation, optical coherence tomography (OCT) of the left eye was notable for diffuse attenuation of the outer retinal bands. Fundus autofluorescence demonstrated a ring of hyper-autofluorescence encircling the fovea of the left eye. At fifteen-month follow-up, the right eye also became similarly affected. He was found to have elevated serum and cerebrospinal anti-GAD65 autoantibodies and was diagnosed with both SPS and AIR. CONCLUSION: There is a potential association of anti-GAD65 autoantibodies with the development of AIR.

Wnt signaling regulates ion channel expression to promote smooth muscle and cartilage formation in developing mouse trachea.

Ion channels play critical roles in the physiology and function of the nervous system and contractile tissue; however, their role in noncontractile tissue and embryonic development has yet to be understood. Tracheobronchomalacia (TBM) and complete tracheal rings (CTR) are disorders affecting the muscle and cartilage of the trachea and bronchi, whose etiology remains poorly understood. We demonstrated that trachealis muscle organization and polarity are disrupted after epithelial ablation of Wntless (Wls), a cargo receptor critical for the Wnt signaling pathway, in developing trachea. The phenotype resembles the anomalous trachealis muscle observed after deletion of ion channel encoding genes in developing mouse trachea. We sought to investigate whether and how the deletion of Wls affects ion channels during tracheal development. We hypothesize that Wnt signaling influences the expression of ion channels to promote trachealis muscle cell assembly and patterning. Deleting Wls in developing trachea causes differential regulation of genes mediating actin binding, cytoskeleton organization, and potassium ion channel activity. Wnt signaling regulates the expression of Kcnj13, Kcnd3, Kcnj8, and Abcc9 as demonstrated by in vitro studies and in vivo analysis in Wnt5a and ß-catenin-deficient tracheas. Pharmacological inhibition of potassium ion channels and Wnt signaling impaired contractility of developing trachealis smooth muscle and formation of cartilaginous mesenchymal condensation. Thus, in mice, epithelial-induced Wnt/ß-catenin signaling mediates trachealis muscle and cartilage development via modulation of ion channel expression, promoting trachealis muscle architecture, contractility, and cartilaginous extracellular matrix. In turn, ion channel activity may influence tracheal morphogenesis underlying TBM and CTR.NEW & NOTEWORTHY Ion channels play critical roles in the physiology and function of the nervous system and contractile tissue; however, their role in noncontractile tissue and embryonic development has yet to be understood. In this study, we focused on the role of ion channels in the differentiation and patterning of the large airways of the developing respiratory tract. We identify a mechanism by which Wnt-beta-catenin signaling controls levels of ion channel-encoding genes to promote tracheal differentiation.

Retinal Dialysis and Associated Rhegmatogenous Retinal Detachment in Patients with Neurofibromatosis Type 1: A Case Series.

PURPOSE: While ophthalmic manifestations of neurofibromatosis type 1 (NF1), including iris Lisch nodules and optic gliomas have been well described, retinal involvement in these patients has yet to be established. Characterizing the relationship between NF1 and the retina is necessary to optimize outcomes for these patients. METHODS: Independent chart review of NF1 patients was conducted. RESULTS: Chart review yielded four patients, with a history of NF1, with subsequent retinal dialysis and rhegmatogenous retinal detachment. These four patients presented to our institution with a rhegmatogenous retinal detachment secondary to a retinal dialysis with no history of trauma. These patients also demonstrated hyperreflective choroidal abnormalities on near-infrared reflectance (NIR) imaging and optical coherence tomography (OCT). CONCLUSION: Seeing that patients diagnosed with NF1 are susceptible to various ocular manifestations and pathologies, routine ophthalmic examinations are essential in maintaining their ocular health and minimizing morbidity.

Predictors of Intraoperative Echocardiography: Analysis of The Society of Thoracic Surgeons Database.

BACKGROUND: Intraoperative transesophageal echocardiography (TEE) is associated with improved outcomes after cardiac surgery, but unexplained practice pattern variation exists. This study aimed to identify and quantify the predictors of intraoperative TEE use among patients undergoing isolated coronary artery bypass graft surgery (CABG) or cardiac valve surgery. METHODS: This observational cohort study used The Society of Thoracic Surgeon (STS) Adult Cardiac Surgery Database data to identify and quantify the predictors of intraoperative TEE use among adult patients aged 18 years or more undergoing either isolated CABG or open cardiac valve repair or replacement surgery between January 1, 2011, and December 31, 2019. Generalized linear mixed models were used to measure the relationship between intraoperative TEE and patient characteristics, surgical volume, and geographic location, while accounting for clustering within hospitals (primary analysis) or surgeons (secondary analysis). RESULTS: Of 1,973,655 patients, 1,365,708 underwent isolated CABG and 607,947 underwent cardiac valve surgery. Overall, intraoperative TEE was used in 62% of surgeries. The primary hospital-level generalized linear mixed models analysis demonstrated that the strongest predictor of intraoperative TEE use was the hospital where the surgery occurred-with a median odds ratio for TEE of 10.13 in isolated CABG and 5.30 in cardiac valve surgery. The secondary surgeon-level generalized linear mixed models analysis demonstrated similar findings. CONCLUSIONS: Intraoperative TEE use (vs lack of use) during surgery was more strongly associated with hospital and surgeon practice patterns than with any patient-level factor, surgical volume, or geographic location.

Comparison of optical measurements of critical closing pressure acquired before and during induced ventricular arrhythmia in adults.

Significance: The critical closing pressure (CrCP) of cerebral circulation, as measured by diffuse correlation spectroscopy (DCS), is a promising biomarker of intracranial hypertension. However, CrCP techniques using DCS have not been assessed in gold standard experiments. Aim: CrCP is typically calculated by examining the variation of cerebral blood flow (CBF) during the cardiac cycle (with normal sinus rhythm). We compare this typical CrCP measurement with a gold standard obtained during the drops in arterial blood pressure (ABP) caused by rapid ventricular pacing (RVP) in patients undergoing invasive electrophysiologic procedures. Approach: Adults receiving electrophysiology procedures with planned ablation were enrolled for DCS CBF monitoring. CrCP was calculated from CBF and ABP data by three methods: (1) linear extrapolation of data during RVP ( CrCP RVP ; the gold standard); (2) linear extrapolation of data during regular heartbeats ( CrCP Linear ); and (3) fundamental harmonic Fourier filtering of data during regular heartbeats ( CrCP Fourier ). Results: CBF monitoring was performed prior to and during 55 episodes of RVP in five adults. CrCP RVP and CrCP Fourier demonstrated agreement ( R = 0.66 , slope = 1.05 (95%CI, 0.72 to 1.38). Agreement between CrCP RVP and CrCP Linear was worse; CrCP Linear was 8.2 ± 5.9 mmHg higher than CrCP RVP (mean ± SD; p < 0.001 ). Conclusions: Our results suggest that DCS-measured CrCP can be accurately acquired during normal sinus rhythm.