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Esophageal intramural pseudodiverticulosis (EIP) is a rare condition characterized by outpouchings from the esophageal lumen into the outer esophageal wall. It can lead to complications such as esophageal strictures presenting as dysphagia and esophagobronchial fistula (EBF) presenting as recurrent aspiration pneumonia. Only 1 other report of EIP with EBF has been reported in the literature. EIP itself is typically managed medically while a complication such as EBF, on the other hand, elicits far more invasive approaches in the form of open surgical intervention. We present the case of a 50 year-old male newly diagnosed with EIP complicated by EBF who was palliated with esophageal stenting. Upper endoscopy with esophageal stent placement offers a safe, feasible, and non-operative therapy for EIP and EBF.

Congenital anomalies affect 3% to 5% of births and remain the leading cause of infant death in the United States. As whole exome and genome sequencing are increasingly used to diagnose underlying genetic disease, the patient’s clinical presentation remains the most important context for interpreting sequencing results, including frequently reported variants of uncertain significance (VUS). Classification of a variant as VUS acknowledges limits on evidence to establish whether a variant can be classified as pathogenic or benign according to the American College of Medical Genetics guidelines. Importantly, the VUS designation reflects limits on the breadth of evidence linking the genetic variant to a disease. However, available evidence, although limited, may be surprisingly relevant in an individual patient’s case. Accordingly, a VUS result should be approached neither as nondiagnostic genetic result nor as automatically “uncertain” in its potential to guide clinical decision-making. In this article, we discuss a case of an infant born at 29 weeks 4 days without a corpus callosum, whose whole genome sequencing yielded compound heterozygous variants both classified as VUS in ROBO1, a gene encoding for a receptor involved in a canonical signaling mechanism that guides axons across midline. Approaching the VUS result as potentially pathogenic, we found the infant ultimately had pituitary dysfunction and renal anomalies consistent with other reported ROBO1 variants and basic science literature. Accordingly, we highlight resources for variant interpretation available to clinicians to evaluate VUS results, particularly as they inform the diagnosis of individually rare but collectively common rare diseases.

Although enthusiasm for transradial access for neurointerventional procedures has grown, a unique set of considerations bear emphasis to preserve safety and minimize complications. In the first part of this review series, we will review important anatomical considerations for safe and easy neuroendovascular procedures from a transradial approach. These include normal and variant radial artery anatomy, the anatomic snuffbox, as well as axillary, brachial, and great vessel arterial anatomy that is imperative for the neuroendovascular surgeon to be intimately familiar prior to pursuing transradial access procedures. In the next part of the review series, we will focus on safety and complications specific to a transradial approach.

Central venous stenosis in hemodialysis patients rarely causes venous hypertension and intracranial hemorrhage. A 54 year-old male with right arm arteriovenous fistula was transferred to our institution in a comatose state following right parietal venous infarction. Fistulography showed right brachiocephalic vein (BCV) occlusion with reflux into the right transverse sinus and obstruction of left internal jugular vein outflow due to the styloid process. Balloon venoplasty of the right BCV occlusion failed to improve the patient's status because of the delayed diagnosis. Headaches and neurologic symptoms in hemodialysis patients can herald intracranial hypertension due to central venous occlusion and needs prompt assessment with fistulography.

Congenital anomalies affect 3% to 5% of births and remain the leading cause of infant death in the United States. As whole exome and genome sequencing are increasingly used to diagnose underlying genetic disease, the patient's clinical presentation remains the most important context for interpreting sequencing results, including frequently reported variants of uncertain significance (VUS). Classification of a variant as VUS acknowledges limits on evidence to establish whether a variant can be classified as pathogenic or benign according to the American College of Medical Genetics guidelines. Importantly, the VUS designation reflects limits on the breadth of evidence linking the genetic variant to a disease. However, available evidence, although limited, may be surprisingly relevant in an individual patient's case. Accordingly, a VUS result should be approached neither as nondiagnostic genetic result nor as automatically "uncertain" in its potential to guide clinical decision-making. In this article, we discuss a case of an infant born at 29 weeks 4 days without a corpus callosum, whose whole genome sequencing yielded compound heterozygous variants both classified as VUS in

Although enthusiasm for transradial access for neurointerventional procedures has grown, a unique set of considerations bear emphasis to preserve safety and minimize complications. In the first part of this review series, we reviewed anatomical considerations for safe and easy neuroendovascular procedures from a transradial approach. In this second part of the review series, we aim to (1) summarize evidence for safety of the transradial approach, and (2) explain complications and their management.