Background: Gaucher disease is a rare lysosomal storage disorder caused by glucocerebrosidase enzyme deficiency resulting in the cumulative deposition of glucocerebroside in macrophages, predominantly effecting bone marrow, liver and spleen. Gaucher disease type IIIC is a rare subtype that is characterized by cardiovascular involvement, eye-movement disorders, and late-onset neurological symptoms.
Case Presentation: We present a 14-year-old adolescent boy diagnosed with Gaucher disease type IIIC at age four with a homozygous D409H mutation who developed severe aortic valve stenosis, extensive aortic calcification and a porcelain aorta despite enzyme replacement treatment since the diagnosis.
Cardiol Young
October 2024
This article presents an anatomical variation of the very high take-off right coronary artery from the ascending aorta. Clinical care is complicated by the patient's double outlet right ventricle and right aortic arch associated with this situation.
View Article and Find Full Text PDFJ Obstet Gynaecol Res
October 2024
Background: One of the most commonly experienced symptoms of premenstrual disorder (PMD) is anxiety, and there is a notable rise in sympathomimetic activity in this patient group. Studies have linked fluctuations in systemic autonomic tone to electrocardiography (ECG) changes. This study aims to investigate the relationship between anxiety, a common symptom of PMD, and alterations in QT dispersion (QTd) and P-wave dispersion (Pd) in adolescent females.
View Article and Find Full Text PDFSerum uric acid (SUA), the end product of purine metabolism acts as an antioxidant and is related to oxidative stress. It has been reported that SUA may be involved in the pathogenesis of neurodegenerative diseases including Alzheimer disease, Huntington disease, Parkinson disease, and multiple sclerosis. However, studies evaluating SUA levels in migraine are scarce.
View Article and Find Full Text PDFIntroduction: Requiring pediatric intensive care unit (PICU) admission relates to high mortality and morbidity in patients who received hematopoietic stem cell transplantation (HSCT). In this study, we aimed to evaluate the indications for PICU admission, treatments, and the determining risk factors for morbidity and mortality in patients who had allogeneic HSCT from various donors.
Materials And Methods: In this retrospective study, we enrolled to patients who required the PICU after receiving allogeneic HSCT at our Pediatric Bone Marrow Transplantation Unit between 2005 and 2020.
Background And Purpose: Matrix metalloproteinases (MMP) are the enzymes responsible for proteolytic ac-tivity of extracellular matrix proteins. Tissue inhibitors of metalloproteinases (TIMPs) are their endogenous inhibitors. MMP-9 acts on the basal membrane of cerebellar epithe-lium and is antagonized by TIMP-1.
View Article and Find Full Text PDFEnviron Sci Pollut Res Int
January 2023
This paper investigates the relationship between income inequality and environmental degradation for the case of Turkey between 1987 and 2017 through the bootstrap causality method that changes over time. The study used the GINI coefficient to denote income inequality and ecological footprint (EFP) to represent environmental degradation. According to the analysis results, a causal relationship has been determined for Turkey from GINI to EFP between 2002 and 2015 and from EFP to GINI between 2002 and 2008.
View Article and Find Full Text PDFInterferon-beta (IFN-β) 1a and glatiramer acetate (GA) are first-line therapies for multiple sclerosis (MS) with immunomodulatory effects. We present a patient who developed lymphopenia and tuberculous lymphadenitis under treatment with these agents. The female patient who at present 65 year old is followed at our MS outpatient clinics had received GA (20 mg/day, subcutaneous injection) and later IFN-β 1a (44 µg, thrice weekly, subcutaneous injection).
View Article and Find Full Text PDFObjective: Our purpose was to identify the ratio and severity of stigmatization in patients with migraine and epilepsy. We also collected demographic and clinical data to search for possible facilitators.
Methods: In total, 196 patients with migraine and 60 patients with epilepsy were enrolled.
Despite having remarkable utility in treating movement disorders, the lack of understanding of the underlying mechanisms of high-frequency deep brain stimulation (DBS) is a main challenge in choosing personalized stimulation parameters. Here we investigate the modulations in local field potentials induced by electrical stimulation of the subthalamic nucleus (STN) at therapeutic and non-therapeutic frequencies in Parkinson's disease patients undergoing DBS surgery. We find that therapeutic high-frequency stimulation (130-180 Hz) induces high-frequency oscillations (~300 Hz, HFO) similar to those observed with pharmacological treatment.
View Article and Find Full Text PDFBackground And Purpose: Matrix metalloproteinases (MMPs), which are synthesized by many cell groups and responsible for the destruction of matrix proteins, and endogen tissue inhibitors of MMPs (TIMPs) have a role in the pathogenesis of Multiple Sclerosis (MS) by affecting the blood-brain barrier. We aimed to investigate the role of MMPs and TIMPs in the immunopathogenesis and in the course of multiple sclerosis (MS).
Methods: We enrolled 25 relapsing remitting MS patients, who had a definite MS diagnosis according to McDonald criteria and 25 healthy subjects similar for age and gender as control group.
The efficacy of deep brain stimulation (DBS) therapy in Parkinson's disease (PD) patients is highly dependent on the precise localization of the target structures such as subthalamic nucleus (STN). Most commonly, microelectrode single unit activity (SUA) recordings are performed to refine the target. This process is heavily experience based and can be technically challenging.
View Article and Find Full Text PDFSingle cell neuronal activity (SUA) and local field potentials (LFP) in the subthalamic nucleus (STN) of unmedicated Parkinson's disease (PD) patients undergoing deep brain stimulation (DBS) surgery have been well-characterized during microelectrode recordings (MER). However, there is limited knowledge about the changes in the firing patterns and oscillations above and within the territories of STN after the intake of dopaminergic medication. Here, for the first time, we report the STN single cell and oscillatory neural dynamics in a medicated patient with idiopathic PD using intraoperative MER.
View Article and Find Full Text PDFBackground: Increased antimicrobial resistance is a problem in managing urinary tract infections (UTI). With this study we assessed the resistance patterns of urinary isolates in children with UTI between January 2017 and January 2018.
Methods: A retrospective cohort study was conducted.
Annu Int Conf IEEE Eng Med Biol Soc
July 2019
The subthalamic nucleus (STN) is a commonly used target in deep brain stimulation (DBS) to control the motor symptoms of Parkinson's Disease (PD). Identification of the spiking patterns in the STN is important in order to understand the neuropathophysiology of PD and can also assist in electrophysiological mapping of the structure. This study aims to provide a tool for grouping these firing patterns based on several extracted features from the spiking data.
View Article and Find Full Text PDFIntroduction: Subthalamic nucleus (STN) is an effective target for deep brain stimulation (DBS) to reduce the motor symptoms of Parkinson's disease (PD). It is important to identify firing patterns within the structure for a better understanding of the electro-pathophysiology of the disease. Using recently established metrics, our study aims to autonomously identify the discharge patterns of individual cells and examine their spatial distribution within the STN.
View Article and Find Full Text PDFObjective: Cross-frequency coupling has been reported in the STN of patients with PD, but its significance and functional role are still not well understood. This study investigates pharmacological modulations of subthalamic oscillations and their nonlinear cross-frequency interactions across three consecutive cycles over unique 24-hour-long recordings.
Background: Identifying neurobiomarkers for PD can drive the development of novel personalized treatments by providing objective assessment of impairment.
Although motor subtypes of Parkinson's disease (PD), such as tremor dominant (TD) and postural instability and gait difficulty (PIGD), have been defined based on symptoms since the mid-1990s, no underlying neural correlates of these clinical subtypes have yet been identified. Very limited data exist regarding the electrophysiological abnormalities within the subthalamic nucleus (STN) that likely accompany the symptom severity or the phenotype of PD. Here, we show that activity in subbands of local field potentials (LFPs) recorded with multiple microelectrodes from subterritories of STN provide distinguishing neurophysiological information about the motor subtypes of PD.
View Article and Find Full Text PDFIntroduction: Activation of the trigeminovascular system and sensitization of brainstem trigeminal nuclei play a significant role in the physiopathology of migraine. Our aim was to investigate blink reflex (BR) and its recovery in episodic and chronic migraine patients.
Methods: Twenty-eight chronic migraine patients, thirty-two episodic migraine without aura patients and thirty healthy controls were included in the study.
Annu Int Conf IEEE Eng Med Biol Soc
July 2017
This paper presents a portable platform to collect and review behavioral data simultaneously with neurophysiological signals. The whole system is comprised of four parts: a sensor data acquisition interface, a socket server for real-time data streaming, a Simulink system for real-time processing and an offline data review and analysis toolbox. A low-cost microcontroller is used to acquire data from external sensors such as accelerometer and hand dynamometer.
View Article and Find Full Text PDFJ Neurol Neurosurg Psychiatry
January 2018
Sleep is a fundamental homeostatic process, and disorders of sleep can greatly affect quality of life. Parkinson's disease (PD) is highly comorbid for a spectrum of sleep disorders and deep brain stimulation (DBS) of the subthalamic nucleus (STN) has been reported to improve sleep architecture in PD. We studied local field potential (LFP) recordings in PD subjects undergoing STN-DBS over the course of a full-night's sleep.
View Article and Find Full Text PDFIntroduction: Several clinical studies have been conducted to investigate the role of autoantibodies and immunological mechanisms in the etiology of treatment-resistant epilepsy in recent years. Some immunological treatments have been suggested as a result of these studies. In this study, we aimed to investigate the role of autoimmunity in partial and idiopathic generalized epilepsy and determine the relationship between drug resistance and autoimmune antibodies.
View Article and Find Full Text PDFAim: The relation of epilepsy with psychiatric disorders is of great interest to researchers due to its behavioral, social, and cognitive outcomes. In this study, we explored psychiatric comorbidity and its effects on quality of life (QOL) in patients with mesial temporal lobe epilepsy (MTLE) and juvenile myoclonic epilepsy (JME).
Methods: Thirty patients with MTLE, 30 patients with JME, and 30 healthy controls underwent the Structured Clinical Interview for DSM-IV (SCID-I) to diagnose psychiatric disorders.