Is nuchal translucency of 3.0-3.4 mm an indication for cfDNA testing or microarray? - a multicenter retrospective clinical cohort study.

INTRODUCTION: This study aimed to evaluate the occurrence of clinically relevant (sub)microscopic chromosomal aberrations in fetuses with the NT range from 3.0 to 3.4 mm, which would be potentially missed by cfDNA testing. METHODS: A retrospective data analysis of 271 fetuses with NT between 3.0 and 3.4 mm and increased combined test (CT) risk in five cohorts of pregnant women referred for invasive testing and chromosomal microarray was performed. RESULTS: A chromosomal aberration was identified in 18.8% fetuses (1:5; 51/271). In 15% (41/271) of cases trisomy 21, 18, or 13 was found. In 0.7% (2/271) sex chromosome aneuploidy was found. In 1.1% (3/271) of cases, CNV>10Mb was detected, which would potentially also be detected by genome-wide cfDNA testing. The residual risk for missing a submicroscopic chromosome aberration in the presented cohorts is 1.8% (1:54; 5/271). CONCLUSION: Our results indicate that a significant number of fetuses with increased CT risk and presenting NT of 3.0-3.4 mm carry a clinically relevant chromosomal abnormality other than common trisomy. Invasive testing should be offered and counseling on NIPT should include the test limitations that may result in NIPT false negative results in a substantial percentage of fetuses.

The relationship between atherosclerosis and dementia.

OBJECTIVE: The main objective is to confirm a hypothesis that atherosclerosis, through various mechanisms, considerably influences cognitive impairment and significantly increases the risk for developing dementia. Complete sample should be 920 individuals. The present study aimed to analyse epidemiological data from a questionnaire survey. METHODS: The work was carried out in the form of an epidemiological case control study. Subjects are enrolled in the study based on results of the following examinations carried out in neurology departments and outpatient centres during the project NU20-09-00119 from 2020 to 2023. Respondents were divided into four research groups according to the results of clinical examination for the presence of atherosclerosis and dementia. The survey was mainly concerned with risk factors for both atherosclerosis and dementia. It contained questions on lifestyle factors, cardiovascular risk factors, leisure activities, and hobbies. RESULTS: Analysis of the as yet incomplete sample of 877 subjects has yielded the following selected results: on average, 16% of subjects without dementia had primary education while the proportion was 45.2% in the group with both dementia and atherosclerosis. Subjects with dementia did mainly physical work. Low physical activity was more frequently noted in dementia groups (Group 2 - 54.4% and Group 3 - 47.2%) than in subjects without dementia (Group 1 - 19.6% and Group 4 - 25.8%). Coronary heart disease was more frequently reported by dementia patients (33.95%) than those without dementia (16.05%). CONCLUSION: Cognitively impaired individuals, in particular those with vascular cognitive impairment, have poorer quality of life and shorter survival. Risk factors contributing to such impairment are similar to those for ischaemic or haemorrhagic stroke. It may be concluded that most of the analysed risk factors play a role in the development of both atherosclerosis and dementia.

Contribution of methamphetamine and insulin to the death of a woman suffering from type I diabetes - which played the greater role?

This report presents a fatal case of a young female Type I diabetic patient who developed convulsions and loss of consciousness after taking methamphetamine and spending some time in a dance club. During the convulsions, she was given sugar and when no response occurred, her boyfriend who was not experienced in the use of insulin administered a dose of insulin to her. The woman lost consciousness and died despite the efforts of the emergency service. A biochemical analysis revealed a high level of insulin (196.67 mU/L) and low levels of glucose (2.96 mmol/L) and C-peptide (26 pmol/L). Toxicological analysis revealed a methamphetamine concentration of 389 ng/mL and an amphetamine concentration of 19 ng/mL. The forensic perspective of the difficult determination of the contribution of each of the factors to the death, i.e., the pre-existing medical condition (Type I diabetes), the use of methamphetamine, the physical exertion at the dance club, and, finally, the non-indicated administration of insulin, is discussed. The ruling of the court is also reported.

Correlation of toxoplasmosis with small­for­gestational­age newborns.

BACKGROUND: Toxoplasma gondii infection in pregnant women could lead to significant changes during the pregnancy, affect the outcomes of pregnancy and the timing of labour. Small­for­gestational­age (SGA) newborns are defined by birthweight below the 10th percentile for gestational age. We tested an association between latent toxoplasmosis in pregnant women and deliveries of SGA babies. MATERIAL AND METHODS: For testing, we included 1,647 women who gave birth to a singleton baby at ≥ 37 weeks of gestation. The complement-fixation test (CFT) and enzyme-linked immunosorbent assay (ELISA) tests for IgG and IgM were used. The latent form of toxoplasmosis was defined as a CFT titre of 1:8 or higher, together with index positivity IgG ELISA > 1.1 and negative IgM. RESULTS: There were 406 (24.7 %) women positive, and 1,241 (75.3 %) women negative for latent toxoplasmosis. Of all deliveries. 190 were SGA­positive and 1,457 were SGA­negative. Our study found a statistically significant association between latent toxoplasmosis and SGA foetuses born at term. The Pearson chi-square model was statistically significant (χ2(1) = 7.365, p = .007). The odds ratio was 1.567. CONCLUSION: Pregnant women with latent toxoplasmosis giving birth at ≥ 37 weeks of gestation have a 1.567 times higher risk of delivering an SGA baby (Tab. 2, Fig. 1, Ref. 30).

Expression and 7-day time course of circulating microRNAs in septic patients treated with nephrotoxic antibiotic agents.

BACKGROUND: Through regulation of signaling pathways, microRNAs (miRNAs) can be involved in sepsis and associated organ dysfunction. The aims of this study were to track the 7-day time course of blood miRNAs in patients with sepsis treated with vancomycin, gentamicin, or a non-nephrotoxic antibiotic and miRNA associations with neutrophil gelatinase-associated lipokalin (NGAL), creatinine, procalcitonin, interleukin-6, and acute kidney injury (AKI) stage. METHODS: Of 46 adult patients, 7 were on vancomycin, 20 on gentamicin, and 19 on another antibiotic. Blood samples were collected on days 1, 4, and 7 of treatment, and miRNAs were identified using quantitative reverse transcription PCR. RESULTS: The results showed no relationship between miRNA levels and biochemical variables on day 1. By day 7 of gentamicin treatment miR-15a-5p provided good discrimination between AKI and non-AKI (area under curve, 0.828). In patients taking vancomycin, miR-155-5p and miR-192-5p positively correlated with creatinine and NGAL values, and miR-192-5p and miR-423-5p positively correlated with procalcitonin and interleukin-6 in patients treated with a non-nephrotoxic antibiotic. In patients together we found positive correlation between miR-155-5p and miR-423-5p and all biochemical markers. CONCLUSION: The results suggest that these four miRNAs may serve as diagnostic or therapeutic tool in sepsis, renal injury and nephrotoxic treatment. TRIAL REGISTRATION: ClinicalTrials.gov , ID: NCT04991376 . Registered on 27 July 2021.

Stepwise molecular-genetic examination in aborted fetuses.

OBJECTIVE: The evaluation of quantitative fluorescence PCR (QF-PCR) and single nucleotide polymorphism array (SNP array) analysis for the identification of chromosomal abnormalities in products of conception (POC). MATERIALS AND METHODS: A total of 1,094 POC samples were processed at Gennet in the years 2018-2020. Chromosomal aneuploidies were tested by QF-PCR using a Omnibor set (STR markers 13, 18, 21, X a Y), SAB-I set (STR markers 2, 7, 15, 16, 22), SAB-II set (from November 2019, STR markers 4, 6, 14) followed by SNP array analysis (Illumina) on samples with a negative QF-PCR result. All POC samples were tested for maternal contamination. RESULTS: After exclusion of maternal contamination (32% samples) the total number of 742 POC samples were tested by QF-PCR. Chromosomal aneuploidies were found in 273 POC samples (36.8%). Then, 469 QF-PCR negative POC samples were tested by SNP array analysis. Normal female/male profile was confirmed in 402 samples (85.7%) and chromosomal aneuploidies and chromosomal aberrations (deletion/duplication > 10 Mb) in 51 samples (10.9%). Microdeletion/microduplication was found in 16 POC samples (3.4%), two were classified as pathogenic variants and 14 as variants of unknown significance. In a group of women > 35 years of age, statistically significant increase of the chromosomal abnormalities was confirmed. No statistically significant difference between the in vitro fertilization group and the group of spontaneous conception was found. CONCLUSION: The application of the molecular work-up based on the stepwise use of QF-PCR and SNP array clarifies the cause of the abortion in 43% POC samples. The overall detection rate in the I. trimester was 50.4%.

Cerebrospinal Fluid Levels of 5-Hydroxyindoleacetic Acid in Parkinson's Disease and Atypical Parkinsonian Syndromes.

BACKGROUND: Various cerebrospinal fluid (CSF) biomarkers are studied in Parkinson's disease (PD) and atypical parkinsonian syndromes (APS). Several studies found reduced 5-hydroxyindoleacetic acid (5-HIAA), the main serotonin metabolite, in PD. There is little evidence regarding its levels in APS. METHODS: We measured 5-HIAA in the CSF of 90 PD patients, 16 MSA patients, 26 progressive supranuclear palsy (PSP) patients, 11 corticobasal syndrome (CBS) patients, and 31 controls. We also compared the values in depressed and nondepressed patients. RESULTS: There was a statistically significant difference in CSF 5-HIAA in PD and MSA compared to the control group (median in PD 15.8 µg/L, in MSA 13.6 µg/L vs. 24.3 µg/L in controls; p = 0.0008 in PD, p = 0.006 in MSA). There was no statistically significant difference in CSF 5-HIAA in PSP and CBS compared to the control group (median in PSP 22.7 µg/L, in CBS 18.7 µg/L vs. 24.3 µg/L in controls; p = 1 in both PSP and CBS). CSF 5-HIAA levels were lower in PD patients with depression compared to PD patients without depression (median 8.34 vs. 18.48, p < 0.0001). CONCLUSIONS: CSF 5-HIAA is decreased in PD and MSA. The CSF 5-HIAA levels in PSP and CBS did not differ from those of the control group. There was a tendency toward lower CSF 5-HIAA in MSA than in PD; however, the results did not reach statistical significance. These results may be explained by more severe damage of the serotonergic system in synucleinopathies (PD and MSA) than in tauopathies (PSP and CBS).

Elevated serum concentrations of S100-A11 and AIF-1 in cervical dysplasia patients.

OBJECTIVE: The aim of this study was to compare TFF3, AIF-1, S100-A11 and DKK1 serum levels in patients with cervical dysplasia, and in healthy female controls. METHODS: The first group included 59 patients with a histological dia-gnosis of precancerous disease CIN 1. The second group included 198 patients with a histological dia-gnosis of precancerous disease CIN 2 or CIN 3. The control group was comprised of 90 patients who underwent elective total hysterectomy for nonmalignant disorders. In all patients, preoperative serum samples were taken and separated; the sera were all stored at -80°C until the analysis for TFF3, AIF-1, S100-A11 and DKK1. RESULTS: The serum levels of S100­A11 (P < 0.0001) and AIF-1 (P < 0.0001) were statistically significantly higher in patients with mild precancerous lesions (CIN 1) than in controls. The levels of TFF3 and DKK1 were not statistically significantly different in patients with CIN 1 and in the control group. The serum levels of S100­A11 (P < 0.0001) and AIF-1 (P < 0.0001) were statistically significantly higher in patients with severe precancerous lesions (CIN 2/3) than in controls. TFF3 and DKK1 levels were not statistically significantly different in patients with CIN 2/3 compared to controls. CONCLUSION: S100-A11 and AIF-1 represent potential bio-markers in patients with cervical dysplasia.

Serum concentrations of S100-A11 and AIF-1 are elevated in cervical cancer patients with lymph node involvement.

OBJECTIVE: The aim of this study was to compare the serum levels of TFF3, AIF-1, S100-A11 and DKK1 in surgically staged patients with cervical cancer, and in healthy female controls. METHODS: In total 85 consecutive patients dia-gnosed at the Department of Obstetrics and Gynecology, University Hospital in Olomouc with cervical cancer undergoing radical hysterectomy or fertility sparing surgery with pelvic lymphadenectomy were included. Ninety patients who underwent elective total hysterectomy for nonmalignant disorder represented a control group. In all patients, preoperative serum samples were taken and separated; the sera were all stored at -80 °C until analysis for TFF3, AIF-1, S100-A11 and DKK1. RESULTS: According to the final histopathological examination, 32 (40.5%) out of 79 cervical cancer patients with microscopically examined lymph nodes were lymph node-positive. S100­A11 (P < 0.0001) and AIF-1 levels (P < 0.0001) were higher in cervical cancer patients than in controls. Furthermore, the serum levels of S100­A11 (P > 0.04) and AIF-1 (P > 0.01) were significantly higher in lymph node-positive patients as compared to lymph node-negative patients. The levels of TFF3 and DKK1 were higher (P < 0.0001) in controls than in cervical cancer patients and were not different in groups with or without nodal involvement.. CONCLUSION: S100-A11 and AIF-1 represent potential bio-markers in patients with cervical cancer. Moreover, the levels of S100-A11 and AIF-1 increase in patients with lymph node  involvement.

Acute Kidney Injury in Septic Patients Treated by Selected Nephrotoxic Antibiotic Agents-Pathophysiology and Biomarkers-A Review.

Acute kidney injury is a common complication in critically ill patients with sepsis and/or septic shock. Further, some essential antimicrobial treatment drugs are themselves nephrotoxic. For this reason, timely diagnosis and adequate therapeutic management are paramount. Of potential acute kidney injury (AKI) biomarkers, non-protein-coding RNAs are a subject of ongoing research. This review covers the pathophysiology of vancomycin and gentamicin nephrotoxicity in particular, septic AKI and the microRNAs involved in the pathophysiology of both syndromes. PubMED, UptoDate, MEDLINE and Cochrane databases were searched, using the terms: biomarkers, acute kidney injury, antibiotic nephrotoxicity, sepsis, miRNA and nephrotoxicity. A comprehensive review describing pathophysiology and potential biomarkers of septic and toxic acute kidney injury in septic patients was conducted. In addition, five miRNAs: miR-15a-5p, miR-192-5p, miR-155-5p, miR-486-5p and miR-423-5p specific to septic and toxic acute kidney injury in septic patients, treated by nephrotoxic antibiotic agents (vancomycin and gentamicin) were identified. However, while these are at the stage of clinical testing, preclinical and clinical trials are needed before they can be considered useful biomarkers or therapeutic targets of AKI in the context of antibiotic nephrotoxicity or septic injury.

Plasma levels and leucocyte RNA expression of adipokines in young patients with coronary artery disease, in metabolic syndrome and healthy controls.

OBJECTIVES: Little is known about the role of adipokines in the pathogenesis of coronary artery disease in young patients. The aims of this study were to compare serum levels of adipokines and expression of adipokines in peripheral blood leukocytes in patients with premature coronary artery disease (CAD), metabolic syndrome and healthy individuals. DESIGN AND METHODS: Sixty-five patients with premature CAD (men 18-45years old and women 18-55years old) formed the study group. The control groups were 75 patients with metabolic syndrome and 50 healthy individuals. For each group, RNA expression in peripheral blood leukocytes was determined for 24 different adipokines and 11 adipokines were examined in serum. RESULTS: In individuals with CAD, serum visfatin levels were significantly higher than in metabolic syndrome and healthy controls (2.3 vs. 1.6 vs. 0.7µg/L, P<0.001) while both omentin-1 (92.9 vs. 587.0 vs. 552.3µg/L, P<0.001) and ZAG2 (45.5 vs. 72.5 vs. 77.1mg/L, P<0.001) levels were lower. The receiver operating curve (ROC) analysis for testing the validity of these adipokines in the diagnosis of CAD compared to control groups provided the following areas under the curve (AUC): omentin-1 AUC 0.97 (cut-off ≤222µg/L), ZAG2 AUC 0.89 (cut-off ≤51.7mg/L) and visfatin AUC 0.74 (cut-off ≥1.0µg/L) (P<0.001 in all cases). Visfatin and omentin-1 serum levels did not differ between the acute phase of myocardial infarction and the chronic phase of CAD. In patients with CAD, we found no significant relation between mRNA expression and adipokine concentration. CONCLUSION: Serum omentin-1, visfatin and ZAG2 could serve as biomarkers of premature CAD in young apparently healthy people.

Clinical genetics in the 21st century.

Clinical genetics in the 21st century is associated with the prevention, prediction, therapeutic and reproductive application of genomics. Its basis is the determination of the individual germinal genome and the monitoring of dynamic and tissue-specific regulation of its activity (epigenomics, transcriptomics) and translation (proteomics, metabolomics) influenced by acquired somatic mutations and environment. This "multi-omic" approach is the basis for both population preventive programs and precise medicine, allowing individual preventive and therapeutic approaches. In addition to preventive information (including the prevention of transmission of clinically relevant variants by preimplantation and prenatal diagnostics or genome editing) and use in precision treatment, genomic information may have a fatal impact on life. While the requirements of erudition are fundamentally altered, the principles of genetic counselling must always be respected: non-directiveness, respecting the right to refuse information and preserving medical secret.

[Epicardial fat and osteoprotegerin - does a mutual relation exist? Pilot study]. / Epikardiální tuk a osteoprotegerin - existují vzájemné souvislosti? Pilotní studie.

INTRODUCTION: Epicardial fat (EPI) plays important role in development of metabolic and cardiovascular diseases. According to population studies EPI represents independent risk factor of cardiovascular diseases (CVD) and also for neoplasms. Osteoprotegerin (OPG) is a glycoprotein which have role in regulation of immune and cardiovascular systems. High serum levels of OPG are connected with high cardiovascular risk. The aim of our study was to evaluate possible correlation between EPI and OPG level in asymptomatic relatives of patients with CVD. MATERIAL AND METHODS: 53 asymptomatic relatives (37 male) (median age 53 years) of patients with CVD (ischemic heart disease, cerebrovascular disease) were included. Physical examination and biochemistry analysis were performed. GE Vivid 7 (GE Medical) was used for echocardiography. EPI was measured according to guidelines using parasternal long axis in diastole as a space in front of right ventricle. RESULTS: EPI was present in 46 subjects (86.8 %) with mean value of 2.91 mm. In 10 subjects was the amount of EPI > 5 mm. Spearmann correlation analysis found statistically significant correlation between EPI and OPG (r = 0.271; p = 0.05) and age (r = 0.500; p < 0.0001). We have not found correlation between EPI, glycaemia and level of insulin, glycated Hb, total, LDL, HDL cholesterol and triglycerides. CONCLUSION: We have found positive correlation between EPI and OPG. More studies are needed to confirm applicability of this correlation in risk stratification.Key words: cardiovascular risk - epicardial fat - osteoprotegerin.

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.

The SPAST gene has a major role in hereditary spastic paraplegias (HSPs). This is the first report mapping characteristics of the SPAST gene in a large cohort of Czech HSP patients. All 17 coding exons of the SPAST gene were Sanger sequenced in 327 patients from 263 independent families with suspected uncomplicated HSP. The selected 126 independent patients, without mutation in the SPAST gene after Sanger sequencing, were subsequently tested by Multiplex Ligation-dependent Probe Amplification (MLPA) assay for large deletions or copy number variations affecting the SPAST gene. Among the 263 independent patients, 35 different, small mutations in 44 patients were found. Twenty-one mutations are novel with the majority of frameshift mutations. Seven mutations were found in more than one family. The age at onset ranged between preschool childhood and the fifth decade with inter- and intra-familiar differences. SPAST small mutations were detected in 16.7% (44/263) of independent tested patients. Mutations in the SPAST gene were found more frequently in familial cases (with affected relatives). Mutation were found in 31.9% (29/91 familial tested) in the familial patient group, whereas in the sporadic patient group, mutations were found in only 4.7% of cases (5/106 sporadic cases). Among SPAST-positive patients, 65.9% (29/44) were familial but only 11.4% (5/44) were sporadic. MLPA testing revealed four large deletions in four independent patients, all in familial-positive cases. Mutations in the SPAST gene are 5.8 × more frequent in familial than in sporadic cases. Large deletions were found only in familial patients. Diagnostic testing of the SPAST gene is useful only in positive family history patients not in sporadic cases.

Orthostatic hypotension is associated with decreased cerebrospinal fluid levels of chromogranin A in early stage of Parkinson disease.

An association between the CSF chromogranin A (CgA) and orthostatic blood pressure changes was investigated in 20 patients in the early stage of Parkinson disease (PD). There was a positive correlation between the CSF CgA and diastolic blood pressure change, when CSF CgA levels were lower in patients with orthostatic hypotension (OH). Decreased CSF CgA may be useful in predicting OH in the early stage of PD.

Exponentially weighted moving average chart as a suitable tool for nuchal translucency quality review.

OBJECTIVES: This study aimed to design an exponentially weighted moving average (EWMA) chart for the quality review of nuchal translucency (NT) and to assess its performance compared with the methods currently in use: retrospective distribution-based methods and the cumulative sum (CUSUM) chart. METHODS: The EWMA model was designed for NT quality review using simulation. The NT measurements obtained during routine first-trimester screening in our centre over a two-and-a-half-year period were retrieved from the database. The NT distribution parameters, EWMA and CUSUM chart were established, and the methods were compared. RESULTS: On the basis of the results from the simulation, the optimal EWMA settings were established. A set of 9338 NT measurements obtained from nine sonographers was used to construct the EWMA and CUSUM charts and to calculate the distribution parameters. Distribution-based methods were unable to reveal the temporal periods of poor performance. The EWMA model agreed closely with the CUSUM but had the advantage promptly indicating when the process returned to an in-control state, thus extending its use to long-term prospective and retrospective quality assessments. CONCLUSIONS: The EWMA provides a universal, easy and efficient tool for NT quality review when the prompt and effective detection of suboptimal performance is desired.

Pseudonormokalemia case report - What does it mean to have normal blood potassium?

This case report describes a case of pseudonormokalemia, true hypokalemia. Often, only laboratory values outside the normal range gain attention and false normal results are at risk of not being noticed. However, a disease state may be masked by another pathological process. Here, a 50-year old male was admitted to the Department of Internal Medicine due to sepsis from a dental infection. Initially, serum potassium measurement revealed a normal value of 4 mmol/L (reference interval 3.8-5.1 mmol/L). Thrombocyte number was above 500x109/L. Due to our policy to recommend a repeated measurement of potassium in whole blood or heparin plasma if a patient has thrombocytosis, pseudonormokalemia was identified because the heparin plasma potassium value was only 2.9 mmol/L (reference interval 3.5-4.8 mmol/L). The physiological difference between serum and plasma concentration is no more than 0.3 mmol/L. In this case, potassium concentration were falsely elevated in the serum sample, probably caused by the high number of platelets releasing potassium during clotting. Interpretative comments in patients with thrombocytosis over 500x109/L recommending plasma potassium measurement are helpful. The best way to eliminate pseudohyperkalemia and pseudonormokalemia phenomena caused by thrombocytosis is to completely change towards heparin plasma as the standard material.

Fast and Easy Simultaneous Determination of Riboflavin, Folic Acid, All-Trans-Retinol and α-Tocopherol in Human Serum by LC/MS/MS for Bariatric Patients.

The aim of this study was to develop and validate methods for the determination of vitamins B2, B9, E and A in serum using liquid chromatography with mass spectrometry (MS) detection. Vitamin analysis was performed using an ultra performance liquid chromatography combined with tandem MS. The compounds were separated on a BEH C18 RP column (2.1 × 100 mm, 1.7 µm) using a gradient elution with an analysis time of 10 min. Sample preparation included protein precipitation with ethanol. The concentration range in human serum was as follows: riboflavin 5-1000 nmol/L, folic acid 2.5-250 nmol/L, α-tocopherol 0.5-100 µmol/L and all-trans-retinol 25-2500 nmol/L. Accuracy and precision were validated according to Food and Drug Administration guidelines, with coefficients of variation ranging from 3.1-11.7% and recoveries from 94.4-107.5%. Routine monitoring of the complex range of vitamins in bariatric medicine is still not common. This is despite the fact that patients are at risk for glitch deficits, especially of a neurological nature. An analytical method that allows for the complex measurement of both water-soluble and fat-soluble vitamins is important and necessary for the clinical monitoring of bariatric patients. The method we have described could benefit both clinical practice and nutritional research.

Corrigendum: Secretoneurin levels are higher in dilated cardiomyopathy than in ischaemic cardiomyopathy: preliminary results.

[This corrects the article DOI: 10.3389/fcvm.2023.1297900.].

Cerebrospinal fluid levels of chromogranin A in the treatment-naïve early stage Parkinson's disease: a pilot study.

Chromogranin A (CgA) levels in cerebrospinal fluid (CSF) have been reported to be significantly reduced in the later stages of Parkinson's disease (PD). There are only limited data regarding its levels in the early stages, so its significance as a potential biomarker in the diagnosis of PD cannot be established. The aim of our study was to establish the level of CgA in a cohort of treatment-naïve patients with early stage PD. Ten patients (4 males, 6 females) and 10 gender- and age-matched controls were examined for CgA levels in the CSF. Control subjects were patients with low-back pain or tension-type headache. The mean CSF CgA level in PD patients was 74.8 (41.9-123.8) µg/l; in the control group it was 143.9 (116-181.3) µg/l. Statistical analysis showed a difference at the significance level P ≤ 0.05. Our pilot study shows that CSF CgA levels are reduced in the early stages of PD. CgA could therefore be a potential biomarker helpful in the diagnosis of PD.