Telomerase Reverse Transcriptase Promoter Mutations in A Cohort Of Adult Gliomas - Clinicopathological Correlates.

Background: Introduction: Gliomas were previously classified histologically, although now the latest WHO classification incorporates several molecular markers to classify these. Detection of TERT promoter mutations is assuming increased importance due to its relevance to prognostication. Objective: : The aim of this study was to determine the frequency of TERT promoter mutations, association of TERT promoter mutations with other molecular alterations and to assess the role of TERT promoter mutations in overall survival and progression-free survival in relation to histological and molecular glioma subtypes. Materials and Methods: This study analyzed a cohort of 107 adult patients with diffuse gliomas, WHO grades II and III and glioblastoma, by immunohistochemistry for IDH and ATRX mutations, FISH for 1p/19q co-deletions and PCR sequencing for TERT promoter mutation. Further, five glioma molecular sub-groups were derived using three molecular alteration and included the sub-groups with: i) IDH mutations only, ii) IDH and TERT mutations only, iii) IDH and 1p/19q co-deletion only, iv) Triple negative, and v) Triple positive. Results: IDH mutations and 1p/19q co-deletions were individually and significantly associated with an improved progression free (P = 0.001 and P = 0.002, respectively) and overall survival (P = 0.000 and P = 0.005, respectively) in the present cohort of gliomas. TERT promoter mutations occurred frequently in anaplastic oligodendrogliomas (94%), oligodendrogliomas (87.5%) and glioblastomas (54%). Sub-division into molecular sub-groups showed that the triple-positive tumors carried the best prognosis, followed by IDH only, triple negative and finally the TERT mutation only tumors (P < 0.000). Conclusion: : This indicates that sub-classification using these molecular markers separates tumors into prognostically relevant categories.

The Incidence and Natural Progression of New-Onset Postoperative Atrial Fibrillation.

OBJECTIVES: This study aimed to characterize the natural progression and recurrence of new-onset postoperative atrial fibrillation (POAF) during an intermediate-term follow-up post cardiac surgery by using continuous event monitoring. BACKGROUND: New-onset POAF is a common complication after cardiac surgery and is associated with an increased risk for stroke and all-cause mortality. Long-term data on new POAF recurrence and anticoagulation remain sparse. METHODS: This is a single-center, prospective observational study evaluating 42 patients undergoing cardiac surgery and diagnosed during indexed admission with new-onset, transient, POAF between May 2015 and December 2019. Before discharge, all patients received implantable loop recorders for continuous monitoring. Study outcomes were the presence and timing of atrial fibrillation (AF) recurrence (first, second, and more than 2 AF recurrences), all-cause mortality, and cerebrovascular accidents. A "per-month interval" analysis of proportion of patients with any AF recurrence was assessed and reported per period of follow-up time. Kaplan-Meier analysis was used to calculate the time to first AF recurrence and report the first AF recurrence rates. RESULTS: Forty-two patients (mean age 67.6 ± 9.6 years, 74% male, mean CHADS2-VASc 3.5 ± 1.5) were evaluated during a mean follow-up of 1.7 ± 1.2 years. AF recurrence after discharge occurred in 30 patients (71%) and of those, 59% had AF episodes equal to or longer than 5 minutes (median AF duration at 1 month was 32 minutes [interquartile range 5.5-106], whereas median AF duration beyond 1 month was 15 minutes [interquartile range 6.3-49]). Twenty-four (80%) of the 30 patients had their first AF recurrence within the first month. During months 1 to 12 follow-up, 76% of patients had any AF recurrences (10% had their first AF recurrence, 43% had their second AF recurrence, and 23% had more than 2 AF recurrences). Beyond 1 year of follow-up, 30% of patients had any AF recurrences (10% had their first AF recurrence, 7% had their second AF recurrence, and 13% had more than 2 AF recurrences). Using Kaplan-Meier analysis, the median time to first AF recurrence was 0.83 months (95% CI: 0.37 to 6) and the detection of first AF recurrence rate at 1, 3, 6, 12, 18, and 24 months was 57.1%, 59.5%, 64.3%, 64.3%, 67.3%, and 73.2%, respectively. During follow-up, there was 1 death ([-] AF recurrence) and 2 cerebrovascular accidents ([+] AF recurrence). CONCLUSIONS: In this study of continuous monitoring with implantable loop recorders, the recurrence of AF in patients who develop transient POAF is common in the first month postoperatively. Of the patients who developed postoperative AF, 76% had any recurrence in months 1 to 12, and 30% had any recurrence beyond 1-year follow-up. Current guidelines recommend anticoagulation for POAF for 30 days. The results of this study warrant further investigation into continued monitoring and longer-term anticoagulation in this population within the context of our findings that AF duration was <30 minutes beyond 1 month.

Synovial sarcoma mimicking a thoracic dumbell schwannoma- a case report.

Introduction: Synovial sarcoma is a rare mesenchymal malignant neoplasm that accounts for less than 10% of soft tissue sarcomas. About 95% of the sarcomas occur in the extremities. Primary synovial sarcomas of the spine are a rare tumor arising from the paravertebral regions, paraspinal muscles or epidural spaces.Purpose: To report an atypical radiological presentation of synovial sarcoma of the thoracic spine mimicking a nerve sheath tumor in an elderly adult and describe the management with review of the literature.Clinical presentation: A forty-six-year-old lady presented with clinical features of a thoracic intradural extramedullary cord compression at T7 level. She was Nurick grade 4 at presentation. MRI of the Thoracic spine with whole spine screening showed a contrast enhancing intradural extramedullary tumor at the T7-8 level; the tumor was exiting out through the left T7-8 neural foramina with foraminal widening. The possibility of a schwannoma was considered.Intervention: She underwent a T7-8 laminectomy and total excision of the tumor followed by posterior fusion. The biopsy was reported as synovial sarcoma. She subsequently underwent radiation and chemotherapy. She had marked improvement in her Neurological status and remained disease free at six months follow-up.Conclusion: Synovial sarcoma of the spine is a rare mesenchymal malignant neoplasm. One needs to consider Synovial sarcoma as one of the differential diagnosis of intradural tumors of the spine.

Imaging Spectrum of Cavernous Sinus Lesions with Histopathologic Correlation.

Cavernous sinuses are paired interconnected venous plexuses situated in the floor of the middle cranial fossa on either side of the sella turcica and sphenoid sinus. They are lined by dura mater and consist of multiple venous channels within. The cavernous sinuses are intimately related to the internal carotid artery and its associated sympathetic plexus, the oculomotor nerve, the trochlear nerve, the abducens nerve, and the ophthalmic nerve. Cavernous sinuses are connected to the orbit, the pterygopalatine fossa, the infratemporal fossa, the nasopharynx, and the posterior cranial fossa by various foramina, fissures, and canals in the skull base. A multitude of structures in close relation to the cavernous sinus give rise to a myriad of possible pathologic conditions that can be broadly classified into (a) neoplastic, (b) vascular, (c) infective or inflammatory, or (d) miscellaneous lesions. These pathologic conditions can have overlapping clinical manifestations. Hence, imaging plays a crucial role in identifying the disease, assessing its extent, providing a pertinent differential diagnosis to guide further management, and suggesting a site or route for biopsy. MRI is the modality of choice to depict the cavernous sinuses, with CT and digital subtraction angiography playing supplementary roles in certain situations. In this article, the cavernous sinus lesions encountered in our institution during a 10-year period are reviewed. The purpose of the article is to (a) describe the anatomy of the cavernous sinus; (b) demonstrate the multimodality imaging spectrum of a wide variety of pathologic conditions involving the cavernous sinus, correlating with the histopathologic findings; (c) highlight important imaging clues for differential diagnosis; and (d) help the reader overcome potential pitfalls in interpretation. Online supplemental material is available for this article. ©RSNA, 2019.

Nutcracker Syndrome-An Unusual Case of Chronic Left Upper Abdominal Pain: A Case Report.

A 38-year-old woman presented with a chief complaint of sharp, achy left upper abdominal pain with radiation to the left flank. This pain started approximately one-and-a-half years before she consulted with a pain specialist. Although an extensive workup was completed, no organic cause was established as the cause of her pain. After undergoing successful fluoroscopically guided celiac plexus blocks, an abdominal magnetic resonance imaging scan was obtained that revealed nutcracker phenomenon. The patient was evaluated by an urologist and underwent renal autotransplantation. The patient subsequently had complete relief of her pain.

Molecular profile of tumors with oligodendroglial morphology: Clinical relevance.

BACKGROUND: The plethora of biomarkers available for the diagnosis and prognostication of gliomas has refined the classification of gliomas. The new World Health Organization (WHO) 2016 classification integrates the phenotypic and genotyping features for a more robust diagnosis. MATERIALS AND METHODS: Fifty gliomas with oligodendroglial morphology according to the WHO 2007 classification were analyzed for isocitrate dehydrogenase 1 and 2 (IDH1/2) mutations by polymerase chain reaction, 1p/19q status by fluorescent in situ hybridization (FISH), and IDH1 and X-linked alpha-thalassemia retardation (ATRX) expression by immunohistochemistry. Tumors were reclassified into oligodendrogliomas, astrocytomas, and glioblastomas (GBMs) according to the new "integrated" diagnostic approach. RESULTS: 30% of previously diagnosed oligodendrogliomas and almost 90% of oligoastrocytomas were reclassified as astrocytomas. Twenty gliomas showed 1p/19q co-deletion, while 18 gliomas showed polysomy of chromosome 1/19. Polysomy of chromosome 1/19 was significantly associated with astrocytic tumors (P ≤ 0.001). Loss of ATRX expression was seen in 20 of 23 WHO grade II/III astrocytomas and 3 of 7 GBMs. All WHO grade II and III gliomas in our cohort showed IDH1/2 mutations. Moreover, 4 of 7 GBMs showed the wild-type IDH1/2 mutation, and 2 of 3 GBMs which showed IDH1/2 mutations were secondary GBMs. There was no significant difference in progression-free and overall survival between WHO grade II and III gliomas, possibly because all these tumors showed IDH1/2 mutations. In multivariate analysis, only the WHO grade (grade IV versus II and III combined) was significantly associated with increased risk of recurrence and death (P = 0.016 and 0.02). CONCLUSION: The new integrated diagnosis provides a more meaningful classification, removing the considerable subjectivity that existed previously.

Neurocutaneous Melanosis with Leptomeningeal Melanoma Involving Supratentorium and Infratentorium.

Neurocutaneous melanoma is a rare congenital syndrome associated with congenital melanocytic nevi with meningeal melanosis or melanoma. The disease is aggressive and has a high propensity for leptomeningeal metastases. We present the case history of a man with neurocutaneous melanoma managed with radical excision followed by hypofractionated adjuvant radiotherapy. One year, eight months later, he had a recurrence of the condition with leptomeningeal spread and was managed with re-excision of the recurrent lesion. Although our patient was disease-free for 20 months after the initial surgery, he survived only approximately five months after the second surgery, which reflects the associated poor prognosis of the disease.

Evolution of postmenopausal hormone therapy between 2002 and 2009.

OBJECTIVE: The results of the Women's Health Initiative led to a sharp decline in postmenopausal hormone therapy use. Subsequently, treatment guidelines were revised to recommend hormone therapy at the lowest effective dose for the shortest possible duration. The objective of this analysis was to assess trends in nationwide hormone therapy prescription claims from 2002 to 2009. METHODS: This study was a retrospective database analyses of pharmacy claims from MedImpact Healthcare Systems Inc. Data from women with claims for oral or transdermal hormone therapy were analyzed to assess trends in hormone therapy claims, including route of administration, dose, and physician specialty. RESULTS: By the end of 2002, the total number of hormone therapy claims dropped approximately 30% from 2002 second quarter claims. This trend continued during the next 7 years, and by 2009, hormone therapy claims were reduced by more than 70%. The proportion of low-dose oral claims rose fourfold, whereas the proportion of standard/high-dose claims decreased 30%. The proportion of claims for transdermal formulations more than doubled, and the proportion of claims for low-dose transdermal hormone therapy increased 10-fold. Although reductions in overall claims, routes of administration, and dose categories were similar between physician specialties, obstetrician/ gynecologists prescribed transdermal hormone therapy nearly twice as often as all other types of providers. CONCLUSIONS: Since the publication of the Women's Health Initiative results, there has been a sustained decrease in hormone therapy claims. The proportional use of low-dose oral and transdermal formulations has increased, but as of 2009, claims for these formulations accounted for approximately one in four total hormone therapy claims.

Xanthogranulomatous colloid cyst of the third ventricle: Alter your surgical strategy.

Colloid cysts are the most common benign neoplasms of the anterior third ventricle, mostly located at the level of the foramen of Monro and can often manifest as sudden onset headache or loss of consciousness. These cysts often have a well-defined cyst wall, mucinous or watery intracystic fluid and have a fairly good plane with the surrounding parenchyma. Occasionally, intracystic haemorrhage can lead to xanthogranulomatous inflammatory changes within the cyst resulting in focal thickening of the cyst wall and adhesion to the surrounding structures. Here we describe a case of xanthogranulomatous colloid cyst which is a very rare variant of colloid cyst.

Ultrasound Pulsed-Wave Doppler Detects an Intrathecal Location of an Epidural Catheter Tip: A Case Report.

Currently, no gold standard method exists for localization of an epidural catheter after placement. The technique described in this report uses pulsed-wave Doppler (PWD) ultrasound to identify intrathecal location of an epidural catheter. A thoracic epidural catheter was inserted after multiple trials with inconclusive aspiration and test dose. Ultrasound PWD confirmed no flow in the epidural space and positive flow in the intrathecal space. A fluid aspirate was positive for glucose, reconfirming intrathecal placement. PWD is a potential tool that can be used to locate the tip of an epidural catheter.

Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood.

Glutaric acidemia type 1 (GA-1, OMIM no. 231670) is an autosomal recessive disorder caused by the deficiency of glutaryl-CoA dehydrogenase (GCDH). The subsequent accumulation of the amino acids lysine, hydroxylysine, and tryptophan and their breakdown intermediates can be neurotoxic and particularly cause injury to the basal ganglia.Roughly 1 of 100,000 infants is affected with GA-1, and a common feature at birth is macrocephaly. Stress, such as in febrile illnesses, can precipitate encephalopathic crises in children generally less than 2 years with variable recovery. Many infants develop dystonia with complex movement disorders and subtle cognitive and fine motor deficits. Common neuroradiologic findings include hypoplasia of temporal and frontal lobes, striatal lesions, white matter changes, and subdural effusions.There are three previous reports of subependymal nodules found on neuroimaging in GA-1 patients who were diagnosed as adults and untreated for GA-1. We present a unique case of an adult female who was diagnosed at age 2 months and managed prior to any metabolic decompensation. Her initial diagnosis was made based on biochemical and enzymatic analysis, and then later confirmed with genetic sequencing. She started experiencing frequent headaches at age 12 years. Neuroimaging in adulthood revealed common features seen in GA-1 in addition to the finding of subependymal nodules.This case may provide some insight into the natural progression of the disease despite early treatment. Though subependymal nodules are typically seen in tuberous sclerosis, the significance of these lesions in GA-1 is not well understood. Disease courses of more early diagnosed and treated patients with GA-1 need to be documented.

Clinical Spectrum, Therapeutic Outcomes, and Prognostic Predictors in Sjogren's Syndrome-associated Neuropathy.

OBJECTIVES: There are limited data regarding long-term follow-up and therapeutic outcomes in Sjogren's syndrome (SS)-associated peripheral neuropathy. In this study, we aim to study the clinical, electrophysiological spectrum and therapeutic responses among the different subtypes of SS-associated neuropathy. The predictors of suboptimal treatment response will be identified. METHODS: The study included a retrospective cohort of patients with SS-associated neuropathy between January 2012 and November 2015. Baseline clinical, laboratory, electrophysiological data and details of treatment were noted. Therapeutic outcomes were assessed at follow-up and compared among the different subtypes. Prognostic predictors were determined using logistic regression analysis. RESULTS: Fifty-four patients were included in the study. Sensory ataxic neuropathy (17, including 9 with sensory ganglionopathy) and radiculoneuropathy (11) were the main subtypes. Notable atypical presentations included acute neuropathies, pure motor neuropathies, and hypertrophic neuropathy. Concomitant autoimmune disorders were present in 24 (44.4%) patients. Most presentations were subacute-chronic (51, 94.4%). Minor salivary gland biopsy had a higher yield compared to serological markers (81.5 vs. 44.4%). Sensory ataxic neuropathy was associated with greater severity and autonomic dysfunction. Improvement was noted in 33 (61%) patients. Cranial neuropathy and radiculoneuropathy subtypes were associated with the best treatment responses. Chronicity, orthostatic hypotension, baseline severity, and marked axonopathy (nerve biopsy) were predictive of a suboptimal therapeutic response. CONCLUSIONS: The study highlights the heterogeneous spectrum, atypical presentations, and differential therapeutic responses. SS-associated neuropathy remains underdiagnosed. Early diagnosis and prompt initiation of immunotherapy before worsening axonal degeneration is paramount. SS-associated neuropathy need not necessarily be associated with a poor prognosis.

Primary Intradural Extramedullary Cervical Spinal Cysticercosis.

BACKGROUND: Spinal cysticercosis has been reported in 0.7%-3.0% of patients with neurocysticercosis. Most patients with spinal cysticercosis have a coexisting intracranial disease. Most often this intracranial disease manifests as intradural extramedullary lesions involving thoracic and lumbar regions or intramedullary lesions. Intradural extramedullary primary spinal cysticercosis manifesting as cervical myelopathy is extremely rare and has not been reported to date. CASE DESCRIPTION: A 56-year-old man from the northeastern part of India presented with progressive spastic quadriparesis. Magnetic resonance imaging showed a ventrally located intradural extramedullary multiloculated cyst with an enhancing wall in the upper cervical region. Enzyme-linked immunoelectrotransfer blot performed to detect cysticercal antibodies in serum was positive. The patient underwent total excision of the cysts, which were confirmed histologically to be cysticercal cysts. He was also treated with 2 weeks of albendazole therapy after surgery. He had recovered fully 1 year later. CONCLUSIONS: Cysticercosis should be considered in the differential diagnosis in a patient with multiloculated cysts in the spinal subarachnoid space. Surgical exploration and excision of the cysts should be performed not only to establish a diagnosis but also to decompress the cord before medical therapy.

Impact of Abdominal Adipose Depots and Race on Risk for Colorectal Cancer: A Case-Control Study.

Visceral adipose tissue (VAT) but not subcutaneous adipose tissue (SAT) is associated with obesity-related diseases including colorectal cancer (CRC). Superficial SAT (SSAT) and deep SAT (DSAT), components of SAT, also appear to independently influence disease risk. These abdominal adipose tissues (AATs) are not extensively studied in connection with CRC and have not been explored in the United States despite known racial variations in body composition. We conducted a case-control study that compared associations between AAT with CRC risk and race of African-American (AA) and non-Hispanic white (NHW) men with incident CRC matched by age, body mass index, and race (N = 158, 79/group). Cross-sectional computed tomography images were used for assessment of AAT. Overall cases and controls had similar VAT areas (140 ± 192 vs 149 ± 152 cm2, P-value = 0.93); however, cases had lower SSAT than controls (88 ± 39 vs 112 ± 65 cm2, P < 0.01). Among controls, AA had significantly lower VAT (114 ± 168 vs 180 ± 167, P < 0.01) than NHW. Conditional logistic regression revealed that AA men with greater SSAT had lower odds for CRC (odds ratio [OR]: 0.24, 95% confidence interval [CI] 0.07-0.85). Our findings indicate that VAT does vary between cases and controls by race; however, this variation is not a risk factor for CRC. The negative association between CRC and SSAT in AA men warrants further investigation.