Action Myoclonus-Renal Failure Syndrome: A Case Report with Bioinformatic Annotations.

Action myoclonus-renal failure (AMRF) syndrome is a rare autosomal recessive disorder characterized by myoclonic epilepsy with occasional renal failure comorbidity. This study examines a consanguineous family with multiple members presenting myoclonic epilepsy. The disease's continued transmission within the family is attributable to a lack of genetic testing and the inability to establish a definitive diagnosis. Our objective is to guide physicians toward accurate diagnoses and reduce the disease's recurrence through appropriate genetic counseling. Various diagnostic approaches can contribute to identifying AMRF. While magnetic resonance imaging (MRI) results and blood panels may not yield definitive diagnoses, electromyography (EMG) studies can serve as a robust diagnostic tool, leading to genetic confirmation. In line with standardized protocols, EMG findings consistent with AMRF present a polyneuropathy characterized by axonal degeneration and demyelinating features. These features manifest as decreased amplitude for axonal degeneration and decreased nerve conduction velocity (NCV) for demyelination. The presence of such EMG findings in a patient exhibiting both renal and central nervous system involvement may reinforce a preliminary diagnosis and warrant further genetic analysis.

Artificial neuronal network analysis in investigating the relationship between oxidative stress and endoplasmic reticulum stress to address blocked vessels in cardiovascular disease.

Background: Cardiovascular disease is the leading cause of death in the world and is associated with significant morbidity. Atherosclerosis is the main cause of cardiovascular disease (CVD), including myocardial infarction (MI), heart failure, and stroke. The mechanism of atherosclerosis has not been well investigated in different aspects, such as the relationship between oxidative stress and endothelial function. This project aims to investigate whether an oxidative enzyme vascular peroxidase 1 (VPO1) and activating transcription factor 4 (ATF4) can be used as biomarkers in highlighting the pathogenesis of the disease and in evaluating the prognosis of the relationship with endoplasmic reticulum and oxidative stress. This paper used artificial neural network analysis to predict cardiovascular disease risk based on new generation biochemical markers that combine vascular inflammation, oxidative and endoplasmic reticulum stress. Methods: For this purpose, 80 patients were evaluated according to the coronary angiography results. hs-CRP, lipid parameters and demographic characteristics, VPO1, ATF4 and Glutathione peroxidase 1(GPx1) levels were measured. Results: We found an increase in VPO1 and hs-CRP levels in single-vessel disease as compared to controls. On the contrary, ATF4 and GPx1 levels were decreased in the same group, which was not significant. Our results showed a significant positive correlation between ATF4 and lipid parameters. A statistically significant positive correlation was also observed for VPO1 and ATF4 (r=0.367, P<0.05), and a negative correlation was found for ATF4 and GPx1 (r=-0.467, P<0.01). A significant negative relationship was noted for GPx1 and hs-CRP in two/three-vessel disease (r=-0.366, P<0.05). Artificial neural network analysis stated that body mass index (BMI) and smoking history information give us an important clue as compared to age, gender and alcohol consumption parameters when predicting the number of blocked vessels. Conclusions: VPO1 and ATF4 might be potential biomarkers associated with coronary artery disease, especially in the follow-up and monitoring of treatment protocols, in addition to traditional risk factors.

Headache as the sole presenting symptom of cerebral venous sinuses thrombosis: Subgroup analysis of data from the VENOST study.

OBJECTIVES: Headache is the most common complaint in cerebral venous sinus thrombosis (CVST) and it may sometimes be the only symptom in these patients. This retrospective and prospective study was an investigation of any differences in terms of clinical risk factors, radiological findings, or prognosis in patients with CVST who presented with isolated headache (IH) and cases with other concomitant findings (non-isolated headache [NIH]). METHODS: A total of 1144 patients from a multicenter study of cerebral venous sinus thrombosis (VENOST study) were enrolled in this research. The demographic, biochemical, clinical, and radiological aspects of 287 IH cases and 857 NIH cases were compared. RESULTS: There were twice as many women as men in the study group. In the IH group, when gender distribution was evaluated by age group, no statistically significant difference was found. The onset of headache was frequently subacute and chronic in the IH group, but an acute onset was more common in the NIH group. Other neurological findings were observed in 29% of the IH group during follow-up. A previous history of deep, cerebral, or other venous thromboembolism was less common in the IH group than in the NIH group. Transverse sinus involvement was greater in the IH group, whereas sagittal sinus involvement was greater in the NIH group. The presence of a plasminogen activator inhibitor (PAI) mutation was significantly greater in the IH group. CONCLUSION: IH and CVST should be kept in mind if a patient has subacute or chronic headache. PAI, which has an important role in thrombolytic events, may be a risk factor in CVST. Detailed hematological investigations should be considered. Additional studies are needed.

Comparison of Ischemic Preconditioning and Systemic Piracetam for Prevention of Ischemia-Reperfusion Injury in Musculocutaneous Flaps.

BACKGROUND: Ischemia-reperfusion injury plays an important role in flap failure. Ischemic preconditioning technique is the only proven method for preventing ischemia-reperfusion injury, but it is not used widely in daily practice because of difficulties such as prolonging the operation time, need for surgical experience, and increasing the risk of complications. This study has been performed with the assumption that piracetam may be a simple and inexpensive alternative to the preconditioning technique due to its antioxidant, antiaggregant, rheological, anti-inflammatory, antiapoptotic, cytoprotective, and immune modulating effects. METHODS: Thirty-two rats were divided into four groups and latissimus dorsi musculocutaneous flaps were raised. No extra procedure was applied, and no treatment was given to the control group. Four hours of ischemia was created by clamping the thoracodorsal pedicle in the second group. The animals in the third group were treated with 10 minutes of ischemia and reperfusion periods as a preconditioning procedure before the 4 hours of ischemia. Animals in the fourth group received systemic piracetam 30 minutes before and 6 days after reperfusion. Nitric oxide and myeloperoxidase levels in serum and tissue, acute inflammatory cell response, and vascular proliferation in tissue were examined at the postoperative 24th hour and 10th day. RESULTS: Myeloperoxidase activity in both preconditioning and piracetam groups, was significantly lower than the ischemia-reperfusion group. Acute inflammatory cell response was similarly decreased in both preconditioning and piracetam groups compared with ischemia-reperfusion group. Tissue measurements of nitric oxide were also significantly higher in both preconditioning and piracetam groups than in the ischemia-reperfusion group. However, vascular proliferation increased in the preconditioning group, while it did not show any significant change in the piracetam group. CONCLUSION: This study shows that systemic piracetam treatment provides protection against ischemia-reperfusion injury in musculocutaneous flaps and can offer a simple and inexpensive alternative to the preconditioning technique.

Relationship between LPA SNPs and inflammatory burden in patients with preeclampsia to address future cardiovascular risk.

OBJECTIVE: The study tested whether cardiovascular corresponding LPA risk genotypes improve pre-eclampsia and coronary heart disease (CHD) risk prediction beyond conventional risk factors. BACKGROUND: Studies have shown that women specific risk factors for cardiovascular disease (CVD) have taken an attention recently. It might be possible to identify women who have the highest risk in developing CVD in their further lives. It is well-known that Lp(a) levels have an impact on increased risk of CVD which is affected by LPA gene. Further, LPA risk genotypes are not considered in cardiovascular risk prediction. METHODS: We have included 200 pregnant Turkish women into the study. We stratified the preeclamptic (PE) group: early (EOP) (28.7 ± 3.0 weeks) and late onset (LOP) (36.0 ± 1.4 weeks). 14 LPA SNPs were evaluated in the study. Rs9355296 and rs3798220 were found as independent risk factors for preeclampsia by logistic regression analysis. A positive correlation was found between rs9355296 and the diagnostic criteria of preeclampsia. Further rs9355296 G/* carriers have higher vascular inflammation rather than AA carriers. CONCLUSIONS: The findings reveal that LPA genetic variability with high inflammatory response might be an indication of future cardiovascular events.

Long-term Results for Single Channel-Guided Deep Brain Stimulation Used to Treat Parkinson's Disease.

INTRODUCTION: The optimal method for targeting the subthalamic nucleus (STN) and positioning the deep brain stimulation (DBS) electrode is still controversial. In this study, single channel-guided stimulations were used in order to determine the most proper way to target the STN. Findings were synthesised for use in clinical situations. This paper presents the long-term results of DBS applied using single-channel guidance. METHODS: We retrospectively reviewed 15 patients who had undergone STN-DBS to treat Parkinson's disease in-between 2010 and 2017. All patients were examined preoperatively, and they were routinely followed-up 2-7 years postoperatively. RESULTS: The use of single-channel guidance resulted in better outcomes of motor complaints of Parkinson's patients. Moreover, a significantly greater improvement in Unified Parkinson's Disease Rating Scale Score (UPDRS) was achieved in either ON or OFF periods of patients. CONCLUSION: Single channel-guided STN-DBS is a safe procedure and it results in improved motor outcomes in advanced Parkinson's Disease.

Assessment of Patients with Intracerebral Hemorrhage or Hemorrhagic Transformation in the VENOST Study.

INTRODUCTION: Cerebral venous and sinus thrombosis (CVST) may lead to cerebral edema and increased intracranial pressure; besides, ischemic or hemorrhagic lesions may develop. Intracerebral hemorrhages occur in approximately one-third of CVST patients. We assessed and compared the findings of the cerebral hemorrhage (CH) group and the CVST group. MATERIALS AND METHODS: In the VENOST study, medical records of 1,193 patients with CVST, aged over 18 years, were obtained from 35 national stroke centers. Demographic characteristics, clinical symptoms, signs at the admission, radiological findings, etiologic factors, acute and maintenance treatment, and outcome results were reported. The number of involved sinuses or veins, localizations of thrombus, and lesions on CT and MRI scans were recorded. RESULTS: CH was detected in the brain imaging of 241 (21.1%) patients, as hemorrhagic infarction in 198 patients and intracerebral hemorrhage in 43 patients. Gynecologic causes comprised the largest percentage (41.7%) of etiology and risk factors in the CVST group. In the CH group, headache associated with other neurological symptoms was more frequent. These neurological symptoms were epileptic seizures (46.9%), nausea and/or vomiting (36.5%), altered consciousness (36.5%), and focal neurological deficits (33.6%). mRS was ≥3 in 23.1% of the patients in the CH group. DISCUSSION AND CONCLUSION: CVST, an important cause of stroke in the young, should be monitored closely if the patients have additional symptoms of headache, multiple sinus involvement, and CH. Older age and parenchymal lesion, either hemorrhagic infarction or intracerebral hemorrhage, imply poor outcome.

Cerebral Venous Sinus Thrombosis in Women: Subgroup Analysis of the VENOST Study.

BACKGROUND: Early diagnosis of cerebral venous sinus thrombosis (CVST) associated with reproductive health-related risk factors (RHRF) including pregnancy, puerperium, and oral contraceptive (OC) use can prevent severe neurological sequelae; thus, the symptoms must be documented in detail for each group. METHODS: Out of 1144 patients with CVST, a total of 777 women were enrolled from a multicenter for the study of cerebral venous sinus thrombosis (VENOST). Demographic, biochemical, clinical, and radiological aspects were compared for 324 cases with RHRF and 453 cases without RHRF. RESULTS: The mean age of the RHRF (-) group (43.2 ± 13 years) was significantly higher than of the RHRF (+) group (34 ± 9 years). A previous history of deep venous thrombosis (3%), isolated cavernous sinus involvement (1%), cranial neuropathy (13%), comorbid malignancy (7%), and its disability scores after 12 months (9%) were significantly higher in the RHRF (-) group. The RHRF (+) group consisted of 44% cases of puerperium, 33% cases of OC users and 23% of pregnant women. The mean age was found to be higher in OC users (38 ± 9 years). A previous history of deep venous thrombosis was slightly higher in the pregnancy subgroup (4%). Epileptic seizures were more common in the puerperium group (44%). CONCLUSION: The results of our study indicate that the risk of CSVT increases parallel to age, OC use, and puerperium period. In addition, when considering the frequency of findings and symptoms, epileptic seizures in the puerperium subgroup of the RHRF (+) group and malignancies in the RHRF (-) group may accompany the CSVT. In daily practice, predicting these risks for the CSVT and early recognition of the symptoms will provide significant benefits to patients.

Comparison of ischemic preconditioning and BotulinumA Toxin injection for the prevention of ischemia-reperfusion injury in musculocutaneous flaps

Background/aim: The aim of the study was to evaluate the protective effect of Botulinum A toxin injection against ischemia-reperfusion injury. Materials and methods: Thirty-two Sprague-Dawley rats were divided into: control, ischemia-reperfusion, ischemic preconditioning, and botulinum groups. In all groups the musculocutaneous pedicle flap was occluded for 4 h, and then reperfused to induce ischemia-reperfusion injury. Serum and tissue myeloperoxidase (MPO) and nitric oxide (NO) levels were measured at 24 h and at 10 days. Results: Tissue MPO levels did not differ significantly between the ischemic preconditioning and botulinum groups at 24 h but was significantly lower in the botulinum group at 10 days. Tissue NO levels were significantly higher in the ischemic preconditioning group compared to the botulinum group at 24 h and at 10 days. Serum MPO showed no significant difference between these two groups at 24 h but was significantly lower in the ischemic preconditioning group compared to the botulinum group at 10 days. Serum NO levels were not significantly different at 24 h but significantly higher in the botulinum group at 10 days. Conclusion: Findings show that botulinum has a protective effect against the ischemia-reperfusion injury via increased NO and decreased MPO levels in tissue. Based on tissue NO levels, ischemic preconditioning was significantly higher than botulinum.

Epileptic seizures in cerebral venous sinus thrombosis: Subgroup analysis of VENOST study.

PURPOSE: The aim of this study is to evaluate the presence and prognostic impact of early seizures in cerebral venous sinus thrombosis patients (CVST). METHOD: VENOST is a retrospective and prospective national multicenter observational study. CVST patients with or without epileptic seizures (ES) were analyzed and compared in terms of demographic and imaging data, causative factors, clinical variables, and prognosis in a total of 1126 patients. RESULTS: The mean age of the patients in the ES group was 39.73 ± 12.64 and 40.17 ± 14.02 years in the non-ES group (p > 0.05). Epileptic seizures were more common (76.6 %) in females (p < 0.001). Early ES occurred in 269 of 1126 patients (23.9 %). Epileptic seizures mainly presented in the acute phase (71.4 %) of the disease (p < 0.001). Majority of these (60.5 %) were in the first 24 h of the CVST. The most common neurological signs were focal neurologic deficits (29.9 %) and altered consciousness (31.4 %) in the ES group. Superior sagittal sinus (SSS) and cortical veins (CV) involvement were the most common sites of thrombosis and the mostly related etiology were found puerperium in seizure group (30.3 % vs 13.9 %). Patients with seizures had worse outcome in the first month of the disease (p < 0.001) but these did not have any influence thereafter. CONCLUSIONS: In this largest CVST cohort (VENOST) reported female sex, presence of focal neurological deficits and altered consciousness, thrombosis of the SSS and CVs, hemorrhagic infarction were risk factors for ES occurrence in patients with CVST.

The relationship between the findings of vestibular evoked myogenic potentials and severity of obstructive sleep apnea syndrome.

PURPOSE: Our study aimed to evaluate the effects of chronic hypoxic state in Obstructive Sleep Apnea Syndrome (OSAS) on brainstem pathways using Vestibular Evoked Myogenic Potential (VEMP) test and to investigate the presence of new markers likely to be correlated with the severity of the disease. METHODS: The study was planned as prospective and double blind. A total of 60 patients (120 ears) diagnosed with mild, moderate and severe OSAS were included in the study and the patients are grouped as 20 patients in each group. Twenty volunteer healthy individuals (40 ears) shown to be without OSAS were included in the study. VEMP measurements were made in 60 study group patients (120 ears) and in 20 healthy controls (40 ears). The groups were compared in terms of variables such as the acquisition rate of oVEMP and cVEMP waves, interval between the waves, latency and amplitude of the waves. p < 0.05 values were considered as significant. RESULTS: The results of cVEMP test showed that the rate of wave acquisition in the moderate and severe OSAS groups was significantly lower than the control group and mild OSAS groups (p = 0.008). There was no difference between the control group and the mild OSAS group in terms of the rate of obtaining the wave (p > 0.05). In the moderate and severe OSAS groups, P1N1 amplitude and N1P2 amplitude values were found to be significantly lower than the mild OSAS group (p = 0.007 and p = 0.017, respectively). In the oVEMP test, there was no significant difference between the mild OSAS group and the control group in terms of the wave yield (p > 0.05); however, it was found that the rate of wave acquisition in the moderate and severe OSAS groups was significantly lower than the mild OSAS group (p = 0.041). There was inverse correlation between the N1P2 interval and P1N1 amplitude value and AHI in simple regression analysis and multiple regression analysis (p = 0.012 and p = 0.021; p = 0.009 and p = 0.040, respectively). CONCLUSION: The negative effects of chronic intermittent hypoxia related with OSAS on the brainstem and vestibular system can be demonstrated by VEMP tests. Especially, the inability to obtain the wave is the most important finding showing this situation. Also, we think that N1P2 interval and P1N1 amplitude markers can be used to detect the subclinical negative effect of chronic hypoxia on vestibular nuclei in the brainstem.

Serum caveolin-1 levels in patients with preeclampsia.

Aim: The expressions of caveolin-1 have only been examined in the placental tissue of patients with preeclampsia and were reported to be low. Therefore, we decided to investigate the maternal serum levels of caveolin-1 in patients with preeclampsia.Material and methods: This cross-sectional study was conducted including 87 pregnant women; 32 with normal pregnancy and 55 with preeclampsia. Maternal serum levels of caveolin-1 were measured by using enzyme-linked immunosorbent assay kit (ELISA).Results: The mean serum caveolin-1 level was significantly lower in women with preeclampsia (PE) compared with the control group (11.48 ± 0.92 versus 12.94 ± 1.36 ng/ml) and being lowest in the early onset PE group (11.24 ± 0.74 ng/ml). Serum caveolin-1 concentrations did not correlate with maternal age and BMI. However, caveolin-1 concentrations were negatively correlated with systolic blood pressure (r = -0.467, p = .001) and diastolic blood pressure (r = -0.441, p = .001) as well as with umbilical artery resistance index (r = -0.275, p = .01).Conclusion: Maternal serum caveolin-1 levels are significantly lower in patients with PE than controls. The serum caveolin-1 levels inversely correlate with blood pressure and umbilical artery Doppler parameters.

Cerebral Venous Sinus Thrombosis as a Rare Complication of Systemic Lupus Erythematosus: Subgroup Analysis of the VENOST Study.

AIM: Systemic lupus erythematosus (SLE) is an unusual risk factor for cerebral venous sinus thrombosis (CVST). As few CVST patients with SLE have been reported, little is known regarding its frequency as an underlying etiology, clinical characteristics, or long-term outcome. We evaluated a large cohort of CVST patients with SLE in a multicenter study of cerebral venous thrombosis, the VENOST study, and their clinical characteristics. MATERIAL AND METHOD: Among the 1144 CVST patients in the VENOST cohort, patients diagnosed with SLE were studied. Their demographic and clinical characteristics, etiological risk factors, venous involvement status, and outcomes were recorded. RESULTS: In total, 15 (1.31%) of 1144 CVST patients had SLE. The mean age of these patients was 39.9 ± 12.1 years and 13 (86.7%) were female. Presenting symptoms included headache (73.3%), visual field defects (40.0%), and altered consciousness (26.7%). The main sinuses involved were the transverse (60.0%), sagittal (40.0%), and sigmoid (20.0%) sinuses. Parenchymal involvement was not seen in 73.3% of the patients. On the modified Rankin scale, 92.9% of the patients scored 0-1 at the 1-month follow-up and 90.9% scored 0-1 at the 1-year follow-up. CONCLUSIONS: SLE was found in 1.31% of the CVST patients, most frequently in young women. Headache was the most common symptom and the CVST onset was chronic in the majority of cases. The patient outcomes were favorable. CVST should be suspected in SLE patients, even in those with isolated chronic headache symptoms with or without other neurological findings.

Vagal Nerve Stimulation has Robust Effects on Neuropsychiatric Assessment in Resistant Epilepsy: A Clinical Series with Clinical Experiences.

AIM: To evaluate the resistant epileptic patients who had vagal nerve stimulation (VNS) devices implanted over five years, and to evaluate the neuropsychological aspects of VNS. MATERIAL AND METHODS: Patients with pharmacoresistant epilepsy (PRE) were followed from 2012 to 2017. Totally seven patients were found eligible for VNS in this period. In the pre-surgical period, patients were neuro-psychiatrically assessed by an independent psychiatric committee for mental status, which included assessment of intelligence quotient (IQ), Wechsler adult intelligence scale-revised (WAIS-R) IQ, Stroop test and mini-mental state examination (MMSE), Hamilton depression scale (HDS) and the Beck anxiety inventory (BAI). RESULTS: The positive effects of VNS on patients' well-being and neuropsychiatric status may be the most as important as the treatment's cost effectiveness. The patients' quality of life (QoL) was calculated just before and 12th / 24th months after VNS implantation. The pre-VNS scores for Quality of Life in Epilepsy (QoLiE-31-P) ranged from 14-59, and average score was 37.14.The post-VNS scores ranged from 31-72, and the average score was 52.86. CONCLUSION: VNS has intense effects on QoL of epileptic patients. The best approach for comparing and evaluating QoL in PRE patients may be the QoLiE-31-P inventory, which can be adapted and used in epilepsy centers to evaluate energy, mood, daily activity, cognition, medication effects, seizure worry and overall QoL.

Behçet's disease as a causative factor of cerebral venous sinus thrombosis: subgroup analysis of data from the VENOST study.

OBJECTIVE: This study was performed to determine the rate of cerebral venous sinus thrombosis (CVST) among cases of Behçet's disease (BD) included in a multicentre study of cerebral venous sinus thrombosis (VENOST). METHODS: VENOST was a retrospective and prospective national multicentre observational study that included 1144 patients with CVST. The patients were classified according to aetiologic factors, time of CVST symptom onset, sinus involvement, treatment approach and prognosis. RESULTS: BD was shown to be a causative factor of CVST in 108 (9.4%) of 1144 patients. The mean age of patients in the BD group was 35.27 years and 68.5% were men, whereas in the non-BD CVST group, the mean age was 40.57 years and 28.3% were men (P < 0.001). Among the aetiologic factors for patients aged 18-36 years, BD was predominant for men, and puerperium was predominant for women. The onset of symptoms in the BD group was consistent with the subacute form. The transverse sinuses were the most common sites of thrombosis, followed by the superior sagittal sinuses. The most common symptom was headache (96.2%), followed by visual field defects (38%). CONCLUSIONS: BD was found in 9.4% of patients in our VENOST series. Patients with BD were younger and showed a male predominance. The functional outcome of CVST in patients with BD was good; only 12% of patients presenting with cranial nerve involvement and altered consciousness at the beginning had a poor outcome (modified Rankin Score ⩾2).

Protective effects of pentoxifylline in small intestine after ischemia-reperfusion.

Objective This study was performed to determine the healing effects of pentoxifylline on molecular responses and protection against severe ischemic damage in the small intestine. Methods Thirty-six Wistar albino rats were divided into six groups. The superior mesenteric artery was clamped for 120 minutes, and reperfusion was performed for 60 minutes. Saline (0.4 mL), pentoxifylline (1 mg/kg), and pentoxifylline (10 mg/kg) were intraperitoneally administered to the rats in the C1, P1, and P3 groups, respectively, 60 minutes before ischemia and to the rats in the C2, P2, and P4 groups, respectively, during reperfusion onset. Malondialdehyde, myeloperoxidase, tumor necrosis factor alpha, interleukin-1 beta, and interleukin-6 in serum and tissue were measured by enzyme-linked immunosorbent assay. Intestinal ischemic injury was histopathologically evaluated by the Chiu score and immunohistochemical staining. Results All serum and tissue molecular responses were significantly blunted in the pentoxifylline-treated groups compared with the controls. Significant improvement in ischemic damage was demonstrated in the pentoxifylline-treated groups by histological grading and immunohistochemical scoring. Conclusions The protective effects of pentoxifylline were confirmed by molecular responses and histopathological examination.

Hemodiafiltration is associated with reduced inflammation, oxidative stress and improved endothelial risk profile compared to high-flux hemodialysis in children.

Randomized trials in adults have shown reduced all-cause and cardiovascular mortality on hemodiafiltration (HDF) compared to high-flux hemodialysis (HD), but the mechanisms leading to improved outcomes are not clear. We studied biomarkers of inflammation, oxidative stress, anti-oxidant capacity and endothelial dysfunction in 22 children (13 female, age 8-15 years). All children received HD for at least 3 months, and were then switched to HDF, keeping all dialysis related parameters and dialysis time constant. All the biomarkers of inflammation (ß2-microglobulin, IL-6, IL-10, high sensitive C-reactive protein [hsCRP]), oxidative stress (nitrotyrosine, advanced glycation end-products [AGEs], oxidized low density lipoprotein [ox-LDL] and anti-oxidant capacity) and endothelial dysfunction (asymmetric dimethyl arginine [ADMA], symmetric dimethyl arginine [SDMA]), were comparable between incident and prevalent patients on HD, suggesting that even a short dialysis vintage of 3 months on HD increases inflammation and endothelial stress. After 3 months of HDF therapy there was a significant reduction in ß2-microglobulin (p<0.001), hCRP, ADMA, SDMA, AGEs, ox-LDL (p<0.01 for all) and an increase in total antioxidant capacity (p<0.001) compared to HD. All children were maintained on the same dialyser, dialysis water quality, dialysis time and blood flow speeds suggesting that improved clearances on HDF led to an improved biomarker profile. Even in children with residual renal function there was a significant reduction in ß2 microglobulin, hsCRP, SDMA, ox-LDL and AGEs on HDF compared to HD. Children with a lower blood flow had higher inflammatory status (higher IL-6/IL-10 ratio; p = 0.04, r = -0.43). Children who achieved a higher convective volume (≥median 12.8L/m2) had lower ox-LDL (p = 0.02). In conclusion, we have shown that a significant improvement in inflammation, antioxidant capacity and endothelial risk profile is achieved even within a short time (3 months) on HDF compared to HD treatment. TRIAL REGISTRATION: ClinicalTrials.gov: NCT02063776.

A database for screening and registering late onset Pompe disease in Turkey.

The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe.

Serum collectrin levels in patients with early- and late-onset preeclampsia.

AIM: The aim of this study is to investigate the maternal levels of collectrin in early-onset preeclampsia (EOPE) and late-onset preeclampsia (LOPE). To assess the correlation between serum collectrin levels and blood pressure in humans. MATERIAL AND METHODS: This cross-sectional study was conducted including 79 pregnant women, 27 with normal pregnancy, 30 with EOPE and 22 with LOPE. Maternal serum levels of collectrin were measured by using enzyme-linked immunosorbent assay kits. RESULTS: The mean serum collectrin level was significantly lower in women with PE compared with the control group (8.49 ± 3.12 ng/ml (EOPE), 9.69 ± 3.01 ng/ml (LOPE) versus 11.51 ± 4.33 ng/ml) and was found to be the lowest in the EOPE group (8.49 ± 3.12 ng/ml). The mean serum urea and uric acid levels were significantly higher in the PE group than the control group. Serum collectrin concentrations did not correlate with maternal age, BMI and serum creatinine levels. However, collectrin concentrations were negatively correlated with systolic blood pressure (r = -0.284, p = .011) and diastolic blood pressure (r = -0.275, p = .014) as well as with maternal serum urea (r = -0.269, p = .017) and uric acid (r = -0.219, p = .049) concentrations. CONCLUSION: Maternal serum collectrin levels are significantly lower in patients with preeclampsia than in the control group. There is an inverse correlation between serum collectrin levels and blood pressure.

Possible effects of lipoprotein-associated phospholipase A2 single-nucleotide polymorphisms on cardiovascular risk in patients with preeclampsia.

PURPOSE: Lipoprotein lipase-associated phospholipase A2 (Lp-PLA2) is a vascular inflammatory marker associated with cardiovascular diseases (CVD). Women with preeclampsia (PE) have elevated vascular inflammation and at higher CVD risk in the later life. We hypothesize that vascular inflammation related genetic variations increase the risk for developing future cardiovascular disease in women with PE. To test this hypothesis, we studied PLA2G7 gene polymorphisms, Lp-PLA2 mass, activity, index, and other cardiovascular risk factors in women with preeclampsia. METHODS: A total of 200 pregnant women were included into the study. We stratified the PE group: early (28.7 ± 3.0 weeks) and late onset (36.0 ± 1.4 weeks). Serum Lp-PLA2 mass in the early PE and the late PE group were significantly higher than the control group (p = .000). Lp-PLA2 index, Hs-C-reactive protein (CRP), serum amyloid A (SAA), calprotectin, and PTX3 levels were higher in early and late PE (p = .000). Single-nucleotide mutations of PLA2G7 rs1805017 (r = -0.228, p < .05) and rs9381475 (r = 0.216, p < .05) were correlated with LpPLA2 mass for the early PE group. Logistic regression analysis showed that LP-PA2 mass an independent risk factor for early PE with rs1805017 and rs9381475 carriers. CONCLUSIONS: Lp-PLA2 genetic variability with vascular inflammatory markers might contribute the incidence of future cardiovascular events.