scholarly journals The role of cardiovascular autonomic failure in the differential diagnosis of α-synucleinopathies

Author(s):  
Fabian Leys ◽  
Gregor K. Wenning ◽  
Alessandra Fanciulli

AbstractThe α-synucleinopathies comprise a group of adult-onset neurodegenerative disorders including Parkinson’s disease (PD), multiple system atrophy (MSA), dementia with Lewy bodies (DLB,) and — as a restricted non-motor form — pure autonomic failure (PAF). Neuropathologically, the α-synucleinopathies are characterized by aggregates of misfolded α-synuclein in the central and peripheral nervous system. Cardiovascular autonomic failure is a common non-motor symptom in people with PD, a key diagnostic criterion in MSA, a supportive feature for the diagnosis of DLB and disease-defining in PAF. The site of autonomic nervous system lesion differs between the α-synucleinopathies, with a predominantly central lesion pattern in MSA versus a peripheral one in PD, DLB, and PAF. In clinical practice, overlapping autonomic features often challenge the differential diagnosis among the α-synucleinopathies, but also distinguish them from related disorders, such as the tauopathies or other neurodegenerative ataxias. In this review, we discuss the differential diagnostic yield of cardiovascular autonomic failure in individuals presenting with isolated autonomic failure, parkinsonism, cognitive impairment, or cerebellar ataxia.

2021 ◽  
Author(s):  
Júlia Xavier Ramos ◽  
Bruno Zacarias ◽  
Breno Barbosa ◽  
Simone Brandão

Background: Positrons emission tomography associated with computed tomography- PET/CT using the 18 F-fluorodeoxyglucose is a well-established exam for the medical evaluation of dementia, mainly helping in differential diagnosis to determine the specific type of dementia. Objectives: To describe the role of the PET/CT in the differential diagnosis of dementia in patients. Methods: a single-center, descriptive and records-based analysis of patients with Dementia evaluated in a clinic of Neurology at Recife and referred to PET/ CT due to diagnosis uncertainty, between 2020-2021. Results: 29 patients were included. The mean age was 65 years-old and 62% were female. Alzheimer’s dementia was the main diagnostic hypothesis (41.3%). PET/CT was suggestive of Alzheimer’s in 24%, Frontotemporal dementia in 21% and Lewy Bodies Dementia in 17% of patients. PET/CT results disagreed from clinical hypothesis in 21% o and in 10% it was inconclusive. In 38% it corroborated the clinical suspicion. Conclusions: in this sample the use of PET/CT FDG contributed to improve diagnostic accuracy in a significant subset of patients, mostly in the scenery of diagnostic uncertainty or atypical syndromes such as earlyonset dementias. A larger sample size and the continuation of this research will give us more information in the near future.


2019 ◽  
Vol 6 (6) ◽  
pp. 415-423 ◽  
Author(s):  
Alexis A Morell ◽  
Ashish H Shah ◽  
Claudio Cavallo ◽  
Daniel G Eichberg ◽  
Christopher A Sarkiss ◽  
...  

Abstract Background Because less-invasive techniques can obviate the need for brain biopsy in the diagnosis of primary central nervous system lymphoma (PCNSL), it is common practice to wait for a thorough initial work-up, which may delay treatment. We conducted a systematic review and reviewed our own series of patients to define the role of LP and early brain biopsy in the diagnosis of PCNSL. Methods Our study was divided into 2 main sections: 1) systematic review assessing the sensitivity of cerebrospinal fluid (CSF) analysis on the diagnosis of PCNSL, and 2) a retrospective, single-center patient series assessing the diagnostic accuracy and safety of early biopsy in immunocompetent PCNSL patients treated at our institution from 2012 to 2018. Results Our systematic review identified 1481 patients with PCNSL. A preoperative LP obviated surgery in 7.4% of cases. Brain biopsy was the preferred method of diagnosis in 95% of patients followed by CSF (3.1%). In our institutional series, brain biopsy was diagnostic in 92.3% of cases (24/26) with 2 cases that required a second procedure for diagnosis. Perioperative morbidity was noted in 7.6% of cases (n = 2) due to hemorrhages after stereotactic brain biopsy that improved at follow-up. Conclusions The diagnostic yield of CSF analyses for PCNSL in immunocompetent patients remains exceedingly low. Our institutional series demonstrates that early biopsy for PCNSL is safe and accurate, and may avert protracted work-ups. We conclude that performing an early brain biopsy in a suspected case of PCNSL is a valid, safe option to minimize diagnostic delay.


2019 ◽  
Vol 69 (6) ◽  
pp. 981-991 ◽  
Author(s):  
Bashair M. Mussa ◽  
Jalal Taneera ◽  
Abdul Khader Mohammed ◽  
Ankita Srivastava ◽  
Debasmita Mukhopadhyay ◽  
...  

AbstractHypoglycemia-associated autonomic failure (HAAF) is a serious complication of diabetes which is associated with the absence of physiological homeostatic counter-regulatory mechanisms that are controlled by the hypothalamus and sympathetic nervous system. Identification of biomarkers for early detection of HAAF requires an advanced understanding of molecular signature of hypoglycemia which is yet to be identified. The outcomes of the present study have shown that the viability and the apoptotic rate of the hypothalamic neurons (mHypoE-N39) were decreased significantly due to hypoglycemia in a dose-dependent fashion (p < 0.05). Although there are more than 1000 miRNAs differentially expressed in hypothalamus, only twelve miRNAs (miR-7a, miR-7b, miR-9, miR-29b, miR-29c, miR-30a, miR-30b, miR-30c, miR-101b-3p, miR-181a-5p, miR-378-3p and miR-873-5p) were correlated to two main hypothalamic regulatory proteins, FOS and FTO. Expression of these proteins was very sensitive to hypoglycemia. We demonstrated that hypoglycemia modulates the expression of hypothalamic miRNAs that are related to FOS and FTO.


2015 ◽  
Vol 21 (6) ◽  
pp. 640-643 ◽  
Author(s):  
Hélio A.G. Teive ◽  
Walter O. Arruda ◽  
Adriana Moro ◽  
Mariana Moscovich ◽  
Renato P. Munhoz

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Cheol Won Hyeon ◽  
Hyun Kyung Yi ◽  
Eun Kyoung Kim ◽  
Sung-Ji Park ◽  
Sang-Chol Lee ◽  
...  

AbstractThis study aimed to assess the role of 18F-fluorodeoxyglucose-positron emission tomography/computed tomography (18FDG-PET/CT) in the differential diagnosis of pericardial disease. The diagnosis is often troublesome because pericardial fluid analysis or biopsy does not always provide answers. 18FDG-PET/CT can visualize both inflammation and malignancy and offers a whole-body assessment. Patients who visited the Pericardial Disease Clinic of Samsung Medical Center with an 18FDG-PET/CT order code were extracted. Exclusion criteria were as follows: (1) the purpose of the differential diagnosis was not pericardial disease; (2) the patient had a known advanced-stage malignancy; (3) the patient already have confirmative diagnosis using a serology, pericardial effusion analysis or biopsy. The analysis included 107 patients. The most common final diagnosis was idiopathic (n = 46, 43.0%), followed by tuberculosis (n = 30, 28.0%) and neoplastic (n = 11, 10.3%). A maximum standardized uptake value (SUVmax) ≥ 5 typically indicates tuberculosis or neoplastic pericarditis except in just one case of autoimmune pericarditis); especially all of the SUVmax scores ≥ 10 had tuberculosis. The diagnostic yield of pericardial biopsy was very low (10.2%). Interestingly, all of the pericardium with an SUVmax < 4.4 had nondiagnostic results. In contrast, targeted biopsies based on 18FDG uptake demonstrated a higher diagnostic yield (38.7%) than pericardium. The sensitivity of 18FDG-PET/CT was 63.6%. The specificity was 71.9%. The positive predictive value was 20.6%. The negative predictive value 94.5%, and the accuracy was 71.0% for excluding malignancy based upon the FDG uptake patterns. It is possible to explore the differential diagnosis in some patients with difficult pericardiocentesis or pericardial biopsy in a noninvasive manner using on the SUVmax or uptake patterns. In addition, the biopsy strategy depending on 18FDG uptake is helpful to achieve biopsy more safely and with a higher yield. 18FDG-PET may enhance the diagnostic efficacy in patients with pericardial disease.


2014 ◽  
Vol 86 (4) ◽  
pp. 1915-1917 ◽  
Author(s):  
JUAN J. GARCIA ◽  
EDUARDO ORTEGA

Fibromyalgia is a form of non-articular rheumatism in which inflammatory cytokines seem to be involved. However, there is still no analytical specific diagnostic criterion for this disease. The aim was to examine a possible role of fractalkine as a biomarker in fibromyalgia. Plasma levels of soluble fractalkine were compared between women diagnosed with fibromyalgia (n=17) and healthy women (n=10) as controls. Fractalkine released by monocytes was also evaluated. Fibromyalgia patients showed lower plasma fractalkine than healthy women. Since most inflammatory pathologies show elevated plasma levels of soluble fractalkine, the results may contribute towards a differential diagnosis for fibromyalgia.


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