Biogenic Monoamine Disorders

2016 ◽  
Author(s):  
Emmanuel Roze ◽  
Nenad Blau
Keyword(s):  
Cerebrospinal Fluid ◽  
Early Diagnosis ◽  
Movement Disorders ◽  
Final Diagnosis ◽  
Brain Dysfunction ◽  
Biochemical Investigation ◽  
Monoamine Precursors ◽  
Cerebral Dopamine ◽  
Biogenic Monoamine ◽  
Cerebral Folate Deficiency

Biogenic monoamine disorders are a group of inherited diseases characterized by a defect in the synthesis, transport, or degradation of catecholamines and serotonin. The phenotype mostly reflects the pattern and severity of the monoamine deficiency. Movement disorders due to cerebral dopamine deficiency are almost always prominent, mostly in the form of dystonia and/or parkinsonism. These disorders are potentially devastating yet treatable. Early diagnosis and treatment are crucial to prevent ongoing brain dysfunction. Detection of hyperphenylalaninemia in a neonate could be a good clue to the diagnosis. Final diagnosis is often based on a detailed biochemical investigation of the cerebrospinal fluid and can be confirmed by molecular analysis. Treatment is aimed at restoring neurotransmitter homeostasis using monoamine precursors, monoamine agonists, and inhibitors of monoamine degradation. It also comprises the control of hyperphenylalaninemia and the prevention of cerebral folate deficiency, when applicable.

scholarly journals Cerebrospinal Fluid α-Synuclein Species in Cognitive and Movements Disorders

2021 ◽  
Vol 11 (1) ◽  
pp. 119
Author(s):  
Vasilios C. Constantinides ◽  
Nour K. Majbour ◽  
George P. Paraskevas ◽  
Ilham Abdi ◽  
Bared Safieh-Garabedian ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Multiple System Atrophy ◽  
Progressive Supranuclear Palsy ◽  
Movement Disorders ◽  
Corticobasal Degeneration ◽  
Healthy Controls ◽  
Frontotemporal Degeneration ◽  
Blood Contamination ◽  
Dementia Patients ◽  
Specificity And Sensitivity

Total CSF α-synuclein (t-α-syn), phosphorylated α-syn (pS129-α-syn) and α-syn oligomers (o-α-syn) have been studied as candidate biomarkers for synucleinopathies, with suboptimal specificity and sensitivity in the differentiation from healthy controls. Studies of α-syn species in patients with other underlying pathologies are lacking. The aim of this study was to investigate possible alterations in CSF α-syn species in a cohort of patients with diverse underlying pathologies. A total of 135 patients were included, comprising Parkinson’s disease (PD; n = 13), multiple system atrophy (MSA; n = 9), progressive supranuclear palsy (PSP; n = 13), corticobasal degeneration (CBD; n = 9), Alzheimer’s disease (AD; n = 51), frontotemporal degeneration (FTD; n = 26) and vascular dementia patients (VD; n = 14). PD patients exhibited higher pS129-α-syn/α-syn ratios compared to FTD (p = 0.045), after exclusion of samples with CSF blood contamination. When comparing movement disorders (i.e., MSA vs. PD vs. PSP vs. CBD), MSA patients had lower α-syn levels compared to CBD (p = 0.024). Patients with a synucleinopathy (PD and MSA) exhibited lower t-α-syn levels (p = 0.002; cut-off value: ≤865 pg/mL; sensitivity: 95%, specificity: 69%) and higher pS129-/t-α-syn ratios (p = 0.020; cut-off value: ≥0.122; sensitivity: 71%, specificity: 77%) compared to patients with tauopathies (PSP and CBD). There are no significant α-syn species alterations in non-synucleinopathies.

scholarly journals Re-evaluation of soluble APP-α and APP-β in cerebrospinal fluid as potential biomarkers for early diagnosis of dementia disorders

2017 ◽  
Vol 5 (1) ◽  
Author(s):  
Wataru Araki ◽  
Kotaro Hattori ◽  
Kazutomi Kanemaru ◽  
Yuma Yokoi ◽  
Yoshie Omachi ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Early Diagnosis ◽  
Diagnosis Of Dementia ◽  
Potential Biomarkers

Lumbar Puncture in Pediatric Bacterial Meningitis: Defining the Time Interval for Recovery of Cerebrospinal Fluid Pathogens After Parenteral Antibiotic Pretreatment

PEDIATRICS ◽  
2001 ◽  
Vol 108 (5) ◽  
pp. 1169-1174 ◽  
Author(s):  
John T. Kanegaye ◽  
Peyman Soliemanzadeh ◽  
John S. Bradley
Keyword(s):  
Cerebrospinal Fluid ◽  
Bacterial Meningitis ◽  
Laboratory Data ◽  
Final Diagnosis ◽  
Prolonged Treatment ◽  
Time Interval ◽  
Antibiotic Administration ◽  
Parenteral Antibiotic ◽  
Culture Material ◽  
Before And After

Objective. Despite the lack of evidence defining a time interval during which cerebrospinal fluid (CSF) culture yield will not be affected by previous antibiotic therapy, recent publications cite a “minimum window” of 2 to 3 hours for recovery of bacterial pathogens after parenteral antibiotic administration. We conducted a retrospective review of children with bacterial meningitis to describe the rate at which parenteral antibiotic pretreatment sterilizes CSF cultures. Methods. The medical records of pediatric patients who were discharged from a tertiary children's hospital during a 5-year period with the final diagnosis of bacterial meningitis or suspected bacterial meningitis were reviewed. The decay in yield of CSF cultures over time was evaluated in patients with lumbar punctures (LP) delayed until after initiation of parenteral antibiotics and in patients with serial LPs before and after initiation of parenteral antibiotics. Results. The pathogens that infected the 128 study patients were Streptococcus pneumoniae (49),Neisseria meningitidis (37), group BStreptococcus (21), Haemophilus influenzae (8), other organisms (11), and undetermined (3). Thirty-nine patients (30%) had first LPs after initiation of parenteral antibiotics, and 55 (43%) had serial LPs before and after initiation of parenteral antibiotics. After ≥50 mg/kg of a third-generation cephalosporin, 3 of 9 LPs in meningococcal meningitis were sterile within 1 hour, occurring as early as 15 minutes, and all were sterile by 2 hours. With pneumococcal disease, the first negative CSF culture occurred at 4.3 hours, with 5 of 7 cultures negative from 4 to 10 hours after initiation of parenteral antibiotics. Reduced susceptibility to β-lactam antibiotics occurred in 11 of 46 pneumococcal isolates. Group B streptococcal cultures were positive through the first 8 hours after parenteral antibiotics. Blood cultures were positive in 74% of cases without pretreatment and in 57% to 68% of cases with negative CSF cultures. Conclusions. The temptation to initiate antimicrobial therapy may override the principle of obtaining adequate pretreatment culture material. The present study demonstrates that CSF sterilization may occur more rapidly after initiation of parenteral antibiotics than previously suggested, with complete sterilization of meningococcus within 2 hours and the beginning of sterilization of pneumococcus by 4 hours into therapy. Lack of adequate culture material may result in inability to tailor therapy to antimicrobial susceptibility or in unnecessarily prolonged treatment if the clinical presentation and laboratory data cannot exclude the possibility of bacterial meningitis.

Risk factors for blood-contaminated cerebrospinal fluid collection in dogs

2019 ◽  
Vol 186 (16) ◽  
pp. e8-e8
Author(s):  
Aran Nagendran ◽  
Daniel Sanchez-Masian ◽  
Erika Bersan ◽  
Camilla Jayne Cooper ◽  
Rita Gonçalves
Keyword(s):  
Risk Factors ◽  
Cerebrospinal Fluid ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Body Condition Score ◽  
Fluid Collection ◽  
Final Diagnosis ◽  
Time Of Day ◽  
Blood Contamination ◽  
Potential Risk Factors

ObjectiveTo determine the risk factors for blood contamination during cerebrospinal fluid (CSF) collection in dogs.Study design and methodsThis is a prospective study of 170 CSF samples. Data collected included signalment of the patient, body condition score, site of CSF collection (cerebellomedullary cistern (CMC) or lumbar cistern (LC)), number of attempts, clinician expertise, final diagnosis, time of day, skull conformation and day of the week. Analysis of the CSF samples was then performed, and the presence of blood contamination (red blood cells >500/µl) was recorded. Logistic regression was used to quantify the association of potential risk factors of the procedure. Multivariate analysis was performed on the variables that were statistically significant.ResultsOf the 170 CSF samples, 53 per cent were collected from the CMC (n=90) and 47 per cent from the LC (n=80). Blood contamination was seen in 20 per cent (n=34) of the samples, 8.9 per cent (n=8) in CMC and 32.5 per cent (n=26) in LC samples. Increased odds of obtaining a contaminated CSF sample were associated with lower level of clinician expertise (odds ratio: 2.5; 95 per cent confidence interval: 0.9–6.7; P=0.046) and with LC versus CMC collection site (odds ratio: 8.1; 95 per cent confidence interval: 2.1–12.9; P=0.001).Clinical significanceThere is increased likelihood of blood contamination when collecting CSF from the LC compared with the CMC site. Increased clinician experience reduced the risk of CSF blood contamination, but none of the other variables examined significantly influenced this.

Increased cerebrospinal fluid lactate and early diagnosis of bacterial meningitis.

1979 ◽  
Vol 25 (5) ◽  
pp. 809-810 ◽  
Author(s):  
J A Knight ◽  
S M Dudek ◽  
R E Haymond
Keyword(s):  
Cerebrospinal Fluid ◽  
Early Diagnosis ◽  
Bacterial Meningitis

Cerebrospinal Fluid Catecholamine Levels in Japanese Encephalitis Patients with Movement Disorders

2005 ◽  
Vol 30 (9) ◽  
pp. 1075-1078 ◽  
Author(s):  
U. K. Misra ◽  
J. Kalita ◽  
S. Pandey ◽  
V. K. Khanna ◽  
G. Nagesh Babu
Keyword(s):  
Cerebrospinal Fluid ◽  
Japanese Encephalitis ◽  
Movement Disorders ◽  
Catecholamine Levels

The Early Diagnosis of Multiple Sclerosis

1980 ◽  
Vol 25 (1) ◽  
pp. 58-62
Author(s):  
B. Ashworth
Keyword(s):  
Multiple Sclerosis ◽  
Cerebrospinal Fluid ◽  
Early Diagnosis ◽  
Optic Neuritis ◽  
Evoked Potentials ◽  
Visual Evoked Potentials ◽  
Spastic Paraparesis ◽  
Psychological Disorder ◽  
Electrophysiological Tests ◽  
Visual Evoked

An outline of modern views on the aetiology of multiple sclerosis is followed by a discussion of diagnosis. Examination of the cerebrospinal fluid, visual evoked potentials, and other electrophysiological tests are considered. The special problems of optic neuritis, spastic paraparesis, and psychological disorder receive more detailed attention. It is concluded that while the supplementary tests are valuable the diagnosis remains essentially clinical.

scholarly journals A case of complicated cerebral toxocariasis in a 4-year old child

2008 ◽  
Vol 45 (4) ◽  
pp. 169-172 ◽  
Author(s):  
J. Kinčeková ◽  
P. Bánovčin ◽  
M. Fedor ◽  
P. Dubinský ◽  
H. Poláček ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Primary Infection ◽  
Diagnostic Method ◽  
Morphological Changes ◽  
Final Diagnosis ◽  
High Serum ◽  
Focal Lesions ◽  
Almost All ◽  
The Brain

AbstractWe report the case of a 4-year-old boy suffering from a cerebral form of toxocariasis. High serum titres of anti-Toxocara antibodies indicated that the primary infection was induced by a high number of Toxocara eggs and that the larvae did not penetrate to cerebrospinal fluid due to the hematoencephalic barrier. MRI of the patient’s brain showed multiple focal lesions spread diffusely in almost all parts of the brain, predominantly paraventricularly. These might be eosinophil-rich granulomatous infiltrates enclosing larvae. Extensive morphological changes were the cause of serious neurological symptoms, most of them being reversible after follow-up therapy. Radiology proved to be useful diagnostic method, but the specific serological assessment had a key role for the final diagnosis. In conclusion, diagnosis of this patient was intracranial primary Toxocara infection with central quadruparesis and parainfective myocarditis.

Early Diagnosis and Treatment of the Patients with Acquired Hemophagocytic Lymphohistiocytosis

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 3552-3552
Author(s):  
Zhao Wang ◽  
Yini Wang ◽  
Cuicui Feng ◽  
Liping Tian
Keyword(s):  
Early Diagnosis ◽  
Diagnostic Criteria ◽  
Peripheral Blood ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Nk Cell ◽  
Clinical Symptoms ◽  
Interleukin 2 ◽  
Cell Activity ◽  
Final Diagnosis ◽  
Nk Cell Activity

Abstract Acquired hemophagocytic lymphohistiocytosis (HLH) is a life threatening condition characterized by uncontroling hyperinflammation on the basis of various infection, tumor and inherited immune deficiency. Awareness of the clinical symptoms and of the diagnostic criteria of HLH is crucial in order not to overlook HLH and to start life-saving therapy in time. In this study, we reviewed 57 suspected HLH patients from March 2006 to June 2008. 25 healthy subjects were enrolled in the study as control. NK cell activity in peripheral blood was tested by a released LDH assay. Meanwhile, solution interleukin-2 receptor (sCD25) was examined with ELISA double antibody sandwich assay. The level of glycosylated ferritin was also detected and the ratio of glycosylated ferritin to ferritin was determined. 41 out of 57 patients were definitely diagnosed according to HLH-2004 diagnostic criteria in this study and 16 patients were excluded. We found that the level of NK cell activity and the ratio of glycosylated ferritin in the all 41 final diagnozed HLH patients were significantly lower than those in the 16 excluded patients and 25 healthy control subjects (p<0.01). Meanwhile, the level of sCD25 in peripheral blood was much higher in all the 41 HLH patients than that in the excluded and healthy people (p<0.05). We compared the coincidence of each diagnostic index in the 41 HLH patients before and after final diagnosis. It was found that 100% patients had abnormal expression on NK cell activity, sCD25 and glycosylated ferritin in the early disease. The three diagnostic indexes were more sensitive and specific than other indexes, such as fever, hepatosplenomegaly, cytopenia, hyper-triglyceridemia, hypo-fibrinogenemia. 41 diagnosed patients received the regimen containing methylprednisolone and immunoglobulin, with or without fludarabine, 26 out of 41 were markedly improved after treatment, 10 out of 41 were exacerbated, and other 5 patients gave up treatment. It is concluded that detection of NK cell activity, sCD25 and glycosylated ferritin may play a very important role in the early diagnosis of HLH. Our data also suggest that fludarabine combined with methylprednisolone and immunoglobulin (FDIg) may provide a new viewpoint for HLH therapy.

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