Unveiling Parkinson's disease through biomarker research: current insights and future prospects.

Parkinson's disease (PD) is a neurodegenerative condition marked by the gradual depletion of dopaminergic neurons in the substantia nigra. Despite substantial strides in comprehending potential causative mechanisms, the validation of biomarkers with unequivocal evidence for routine clinical application remains elusive. Consequently, the diagnosis heavily relies on patients' clinical assessments and medical backgrounds.

A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.

Background: Gordon Holmes syndrome (GHS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, cognitive decline, and cerebellar ataxia. Mutations in the Ring Finger Protein 216 (RNF216) gene have been known to be associated with GHS therewithal RNF216 mutations have been detected in cases with Huntington-like disease, 4H syndrome (hypodontia, hypomyelination, ataxia and hypogonadotropic hypogonadism), and congenital hypogonadotropic hypogonadism.

Case Presentation: Here we report a novel homozygous frameshift mutation in RNF216 gene c.

Plasma thiol/disulphide homeostasis changes in patients with restless legs syndrome.

Objectives: Restless legs syndrome (RLS) is a common neurological condition. Oxidative stress plays an important role in its pathogenesis. Thiol-disulphide homeostasis (TDH) is a new biomarker of oxidative stress.

Plasma copeptin levels in patients with multiple sclerosis.

We compared copeptin levels in relapsing-remitting multiple sclerosis (RRMS) patients with controls and investigated how plasma copeptin levels were changed with the disease period. Thirty patients with RRMS without a prior attack in the last twelve months, and 19 RRMS patients with a clinical acute attack and 30 healthy individuals were included into the study. Copeptin levels were significantly higher in all RRMS patient groups than healthy controls.

Evaluation of potential cardiovascular risk protein biomarkers in high severity restless legs syndrome.

Restless legs syndrome (RLS) is a common sensorimotor disorder that, in case of severe symptoms, can be very distressing and negatively interfere with quality of life. Moreover, increasing evidences associate RLS with higher risk of cerebrovascular and cardiovascular disease (CVD). The purpose of this study was to quantify two proteins, previously identified by proteomics and potentially linked with CVD risk, namely kininogen-1 (KNG1) and alpha-1-antitrypsin (A1AT), in primary RLS patients at high severity grade (HS-RLS) in comparison to healthy control subjects.

Neuro-inflammation and anti-inflammatory treatment options for Alzheimer's disease.

Alzheimer's disease (AD) is a neurodegenerative disease characterized by progressive memory loss and dementia. The pathological characteristics of AD include the deposition of amyloid beta (Aβ), neurofibrillary tangles, and neuronal loss. There is evidence showing the involvement of inflammation in AD, including activated microglia within and surrounding senile plaques.

Discovery of restless legs syndrome plasmatic biomarkers by proteomic analysis.

Objectives: Restless legs syndrome (RLS) can lead to severe clinical consequences, thus negatively impacts on patients' overall health and quality of life. Nevertheless, the pathophysiology of RLS is still unclear, resulting in underestimate, incorrect, or ignored diagnosis and in limited management and treatment. The aim of this study was to compare the plasma proteome of RLS patients and healthy controls, in the search of diagnostic biomarkers related to the disease severity.

Right ventricular geometry and mechanics in patients with obstructive sleep apnea living at high altitude.

Purpose: Repetitive obstruction of larynx during sleep can lead to daytime pulmonary hypertension and alterations in right ventricular morphology and function in a small fraction of obstructive sleep apnea syndrome (OSAS) patients. Environmental effects, particularly high altitude, can modify the effects of OSAS on pulmonary circulation, since altitude-related hypoxia is related with pulmonary vasoconstriction. This potential interaction, however, was not investigated in previous studies.

Relation between Olfactory Dysfunction and Episodic Verbal Memory in Early Parkinson's Disease.

Introduction: Olfactory dysfunction is an early and common symptom in idiopathic Parkinson's disease (IPD). Recently, the relation between olfactory dysfunction and cognitive loss in IPD has been reported. In our study, we aimed to investigate the relation between olfactory dysfunction and cognitive impairments in early IPD related with this theory.

Advanced oxidation protein products and ischaemia-modified albumin in obstructive sleep apnea.

Background: Several studies have shown that obstructive sleep apnea increases incidence of cardiovascular morbidity and mortality. The high systemic oxidative stress in obstructive sleep apnea has been considered as a major pathogenic mechanism leading to cardiovascular disease. Oxidative stress-related lipid and DNA oxidation in obstructive sleep apnea have been reported in the previous studies.

Increased plasma soluble tumor necrosis factor receptor-1 and myeloperoxidase activity in patients with obstructive sleep apnea syndrome.

Purpose/aim: Obstructive sleep apnea (OSA) is characterized by recurrent respiratory disorders associated with increased cardiovascular morbidity and mortality. The increment of systemic inflammation in OSA has been considered as the major pathogenic mechanism leading to cardiovascular diseases. There is limited and conflicting information in the literature investigating myeloperoxidase (MPO) activity and soluble tumor necrosis factor receptor-1 (sTNF-R1) levels in OSA patients.

Relationship between Structural and Functional Assessment of the Visual System in Mildly Disabled Relapsing-Remitting Multiple Sclerosis Patients.

Studies that explored the anterior visual pathway in the patients with multiple sclerosis (MS) have demonstrated contradictory results about the correlation between structural and functional status of optic nerve and retina. We aimed to investigate the functional and structural findings in our cohort of mildly disabled relapsing-remitting MS patients. A total of 134 eyes (80 eyes of the patients with MS and 54 eyes of the control group) were investigated.

Relationship of olfactory function with olfactory bulbus volume, disease duration and Unified Parkinson's disease rating scale scores in patients with early stage of idiopathic Parkinson's disease.

We aimed to investigate the relationship between olfactory function and olfactory bulbus (OB) volume, disease duration and Unified Parkinson's disease rating scale (UPDRS) scores in early stage idiopathic Parkinson's disease patients. The University of Pennsylvania Smell Identification Test (UPSIT) was used for the evaluation of olfactory function. UPSIT scores for patients with Parkinson's disease were significantly lower than controls.

Optical Coherence Tomography in Patients with Relapsing-Remitting Multiple Sclerosis without Optic Neuritis: A 20-Month Longitudinal Study.

Optical coherence tomography is supported and used as a technique for visualisation of neuro-axonal loss in multiple sclerosis, but there are also a few studies expressing the opposite view. The aim of our study was to investigate retinal nerve fibre layer and optic nerve head parameters in patients with multiple sclerosis without a history of prior optic neuritis and symptoms of a new clinical attack during the follow-up for a total of 20-month period. Full ophthalmic evaluation was performed for all of the participants.

Ultrasound elastographic evaluation in the diagnosis of carpal tunnel syndrome: initial findings.

The purpose of this study was to investigate ultrasound (US)- and US elastography-detected changes in the median nerve of patients with carpal tunnel syndrome (CTS). Seventy-four wrists of 41 female patients with CTS (mean age, 47.73 ± 11.

Optic disc and retinal nerve fiber layer parameters as indicators of neurodegenerative brain changes in patients with obstructive sleep apnea syndrome.

Purpose: Retina is a unique part of the central nervous system (CNS) for visualizing the processes of axonal and neuronal degeneration. Optical coherence tomography (OCT) allows direct visualization and measurement of retinal nerve fiber layer (RNFL) thickness, macular volume, and optic disc (OD) parameters. One of the disorders associated with atrophy in different brain regions is obstructive sleep apnea syndrome (OSAS).

Low serum copeptin levels in patients with obstructive sleep apnea.

Purpose: Copeptin, the C-terminal fragment of antidiuretic hormone (ADH), is a new biomarker that has been found to be elevated in several cardiovascular disorders and is related with prognosis. Patients with obstructive sleep apnea demonstrate a tendency to develop coronary and cerebral atherosclerotic disease. Our aim was to investigate copeptin levels in untreated new diagnosed obstructive sleep apnea patients without manifest cardiovascular disorders in order to determine whether copeptin could be used as a biomarker in this group.

Prevalence and risk factors of epilepsy among school children in eastern Turkey.

Epilepsy is a serious chronic brain disorder of childhood. We performed a cross-sectional prevalence study, determined the prevalence of childhood epilepsy, and identified the significance of certain risk factors for epilepsy among 1625 primary-school students aged 6-14 years, living in the center of Kars province. A questionnaire was prepared according to the definitions and principles of the Commission on Epidemiology and Prognosis, International League Against Epilepsy.

The second lumbrical-interosseous latency comparison in carpal tunnel syndrome.

Carpal tunnel syndrome (CTS) is the most common nerve entrapment syndrome. Electromyogram (EMG) is beneficial in supporting the diagnosis of CTS. We compared standard nerve conduction studies of EMG with median and ulnar motor nerve conduction studies from recordings of second lumbrical and interosseal muscles in supporting the diagnosis of CTS.

Aspirin resistance in patients with acute ischemic stroke.

Aspirin is used in ischemic stroke therapy. However, some patients are not responsive to the antithrombotic action of aspirin. The aim of this study was to assess the prevalence of aspirin resistance in stroke patients and its association with mortality.

Bilateral ballism in a patient with diabetes mellitus and chronic renal failure.

Acute movement disorder associated with bilateral basal ganglia lesions is an increasingly recognized syndrome in patients with end-stage renal disease, especially in the setting of diabetes mellitus. The exact mechanism of the basal ganglia lesions is unclear. We report a patient with end-stage diabetic nephropathy admitted to our clinic with acute onset bilateral ballistic movements.