Cerebral venous sinus thrombosis (CVST) is a rare condition characterized by elevated intracranial pressure due to impaired cerebral venous drainage, potentially leading to life-threatening consequences. We searched the PubMed electronic database for 'cerebral venous sinus thrombosis' and 'prothrombotic' cases reported in adults (19+ years) and conducted a systematic review for the published literature in the English language pooled with a case from our institution. Data were analyzed regarding patient demographics, risk factors, clinical features, treatment modalities, and outcomes when available.Thirty cases of CVST were identified (29 case reports, of whom two were described in a case series, and the one case from our institution). The patients' mean age was 39 years (range: 19 -65). The male: female ratio was 1.14:1. The majority (73.3%) had at least one preexisting risk factor, with prescription drug use being the most common risk factor (33.3%) shared among all patients. Most patients (83.3%) presented with at least two symptoms. The most common presenting symptoms were headache (70%), gastrointestinal disturbance (50%), and seizures (40%). Focal deficits (36.7%), vision disturbances (30%), and altered consciousness (20%) were the remaining presenting complaints. Twelve cases (40%) commented on papilledema, with 10 (83.3%) having papilledema present. Anticoagulation abnormalities were examined in 26 cases (86.7%), out of which four cases (15.4%) had isolated protein S (PS) deficiency, three cases (11.5%) had isolated antithrombin III (ATIII) deficiency, and one case (3.8%) had isolated protein C (PC) deficiency. The most common initial imaging modality (22 cases, 73.3%), and most commonly used overall (23 cases, 76.7%), was computed tomography (CT). Magnetic resonance imaging (MRI) was the second most common imaging modality for initial use (five cases, 16.7%), diagnosis or confirmation of CVST (eight cases, 26.7%), and overall (21 cases, 70%). Heparin treatment was involved in the treatment of 18 cases (60%), and warfarin treatment was used in 10 cases (33.3%). Heparin-warfarin combination treatment was utilized in eight cases (26.7%). Most patients survived (28 cases, 93.3%), while the two remaining patients died secondary to brain death from the CVST (6.7%).The findings from this study highlight the clinical characteristics of CVST. Therefore, this study aims to increase awareness of this rare entity. Physicians should maintain a high index of suspicion in order to diagnose patients presenting in the proper clinical context, given this case shares various forms of presentations with other common clinical conditions but requires long-term anticoagulation.

IntroductionThe anterior cruciate ligament (ACL) prevents the anterior translocation and medial rotation of the tibia against the femur. It is typically composed of dense regular connective tissue (DRCT), small amount of loose connective tissue, little vasculature, and few nerve endings. The objective of the current study was to evaluate the details of histological changes in ACLs of patients with clinically diagnosed osteoarthritis (OA).Materials and MethodsThe ACLs of six patients undergoing total knee replacement because of OA (OA group) were compared with 16 normal ACLs from cadavers (control). The ACLs were analyzed for tissue composition and number of blood vessels across the full length and thickness of the ligament. Percentages for areas of DRCT, fibrocartilage, degenerative tissue, and vasculature were calculated. Tissue composition and relative number of blood vessels were compared between groups.ResultsThe proportion of DRCT to non‐DRCT was significantly smaller in the OA group than the control group (p < .001); non‐DRCT included degenerative connective tissue and fibrocartilage. The number of blood vessels to area was greater in the OA group than the control group (p = .002). Six of control (37.5%) and five of OA ACLs (83%) showed areas of calcification.ConclusionsThese results indicate that inflammatory processes contributing to OA in the knee cause changes in the composition of the ACL that lead to destruction of collagen bundles, increased vascularization, calcification, and formation of fibrocartilage‐like tissue inside the ligament. These changes make ligament‐retaining total knee arthroplasty a less beneficial option for knee repair.

Cerebral venous sinus thrombosis (CVST) is a rare condition. Symptoms and signs arise from a combination of thrombosis of cerebral veins and increased intracranial pressure. The most common presenting symptom is a non-descriptive headache, but presentation varies with underlying etiology. CVST requires a high index of suspicion to diagnose, particularly in those without apparent risk factors. Evaluation and diagnosis should include a combination of a thorough history, ophthalmoscopic examination, laboratory studies, and imaging. Management is multidimensional and aims to reverse the underlying causes, and prompt treatment with anticoagulation by heparin to decrease thrombotic burden, risk of permanent neurological deficits, and death. In the present study, we report the case of a 61-year-old man referred to the emergency department by an ophthalmologist for bilateral papilledema and eventually diagnosed with CVST secondary to isolated antithrombin III deficiency. Although CVST is uncommon, this case is worthwhile to report as the presentation is unique, and it requires a high index of clinical awareness for timely diagnosis and early therapeutic intervention.

Here we describe a patient with atypical presentation of autosomal dominant vitreoretinochoroidopathy (ADVIRC) with a novel missense mutation in BEST1 gene and briefly review reported ADVIRC-associated genetic mutations. The patient is a 71-year-old African American female who presented with progressively worsening blurry vision bilaterally over the course of 40 years, with significant deterioration in both peripheral and central vision in the past five years. Her anterior segment exam was unremarkable. Fundoscopic examination showed confluent, demarcated areas of pigmentary chorioretinal atrophy in the mid-periphery of the retina with sparing of the macula in both eyes. Optical coherence tomography (OCT) of the lesions revealed flattening of the fovea with an elevation of the inner retinal structures and outer plexiform layer, and peripheral retinal thinning and loss of retinal structures with choroid hyperreflectivity, consistent with peripheral chorioretinal atrophy. Genetic testing identified a heterozygous c.830C>T, p. (T277M) mutation located on exon 7 of the BEST1 gene. This patient represents an atypical presentation of ADVIRC with more posterior involvement, and this case is associated with a novel missense mutation in the BEST1 gene.

The urachus is a remnant of the embryonic allantois that connects the urinary bladder to the umbilicus. In most cases, it commonly obliterates before birth. Here we present the case of a 60-year-old man with a past medical history of human immunodeficiency virus (HIV) and anal human papillomavirus (HPV). He was referred for an abdominal mass that had been found incidentally while being admitted for an acute kidney injury; it had been excised, and pathological examination showed urachal mucinous cystadenocarcinoma. Surgical excision is performed for the majority of cases with a higher survival rate when diagnosed early.

The anterior cruciate ligament (ACL) plays a crucial role in preventing the anterior translocation and medial rotation of the tibia against the femur. The normal histological composition of the ACL has been described as 99% dense regular connective tissue (DRCT), 0.9% loose connective tissue, and 0.1% vasculature with no nerves or adipose tissue present. Previous data on ACL structure in patients with knee osteoarthritis (OA) indicate that the ligament undergoes degenerative changes in OA patients. The objective of the current study was to evaluate the details of histological changes in the ACLs of patients with clinically diagnosed OA. The study was approved by the local institutional review board. The ACLs from six patients undergoing total knee replacement because of OA (OA group) and eleven normal ACLs from the Kirksville College of Osteopathic Medicine anatomy lab (control group) were collected. Demographic data, medical history, and Outerbridge scores were also collected. The average Outerbridge score in the OA group was 3.6 on a scale of 0–4. Nonconsecutive 10 μm longitudinal tissue slices of ACLs stained with hematoxylin and eosin were analyzed for tissue composition and amount of blood vessels. To account for possible differences in tissue composition across the ligament, the full length and full thickness of each ACL were analyzed using nine sections from each ACL, from which the data were averaged. ImageJ software was used to calculate percentages for total area and areas of DRCT, degenerative tissue, and vasculature. Generalized linear mixed models were used to compare tissue composition and relative amount of blood vessels in the OA and control groups. There was no significant difference in tissue composition or vasculature between age groups (both P>.37). The major difference in the histological structure of the ACL between the two groups was the proportion of DRCT to non‐DRCT, which was significantly smaller in the OA group than the control group (OA, 50%; control, 96%; P<.001). The non‐DRCT included degenerative connective tissue and fibrocartilage. The ratio of blood vessels to area was greater in the OA group than the control group (OA, 0.12 vessels/mm2; control, 0.02 vessels/mm2; P=.01). These results indicate that the inflammatory processes in the knee contributing to OA lesions cause changes in the composition of the ACL that lead to destruction of collagen bundles, increased vascularization, edema, and formation of fibrocartilage‐like tissue inside the ligament. Thus, the ACLs from patients with severe OA undergo marked histological changes, making them less suitable for ligament‐retaining total knee arthroplasty.This abstract is from the Experimental Biology 2019 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.