Search results for "DISORDERS"
showing 10 items of 4560 documents
Altered synaptic phospholipid signaling in PRG-1 deficient mice induces exploratory behavior and motor hyperactivity resembling psychiatric disorders.
2017
Abstract Plasticity related gene 1 (PRG-1) is a neuron specific membrane protein located at the postsynaptic density of glutamatergic synapses. PRG-1 modulates signaling pathways of phosphorylated lipid substrates such as lysophosphatidic acid (LPA). Deletion of PRG-1 increases presynaptic glutamate release probability leading to neuronal over-excitation. However, due to its cortical expression, PRG-1 deficiency leading to increased glutamatergic transmission is supposed to also affect motor pathways. We therefore analyzed the effects of PRG-1 function on exploratory and motor behavior using homozygous PRG-1 knockout (PRG-1−/−) mice and PRG-1/LPA2–receptor double knockout (PRG-1−/−/LPA2−/−)…
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome
2018
Abstract Aim Mucopolysaccharidosis type I is a lysosomal storage disorder that can result in significant disease burden, disability and premature death, if left untreated. The aim of this review was to elaborate on the diagnosis of mucopolysaccharidosis type I and the pros and cons of newborn screening. Methods An international working group was established to discuss ways to improve the early diagnosis of mucopolysaccharidosis type I. It consisted of 13 experts in paediatrics, rare diseases and inherited metabolic diseases from Europe and the Middle East. Results It is becoming increasingly clearer that the delay between symptom onset and clinical diagnosis is considerable for mucopolysacc…
Lubricin in synovial fluid of mild and severe temporomandibular joint internal derangements
2015
Background To understand the molecular basis of temporomandibular joint (TMJ) pathologies, we aimed to investigate the lubricin levels in the TMJ synovial fluid (SF) of patients with mild to severe internal derangements (IDs). Material and Methods A total, 34 joints were the study group. Only patients, with a Wilkes stage of III, IV and V were included, in this sample. Control group consisted of SF from eight joints, from patients undergoing to orthognatic surgery. Concentrations of lubricin in the SF from both samples were measured using ELISA system. Results The mean lubricin concentration was 7.029 ± 0.21 µg/mL in stage III patients; 5.64 ± 0.10 µg/mL in stage IV patients, and 4.78 ± 0.1…
Reflections on the unexpected laboratory finding of hemorheological alterations observed in some haematological disorders
2021
Hyperviscosity syndrome is a clinical condition characterized by the slowing of blood flow through the vessels and it may be associated with several diseases. The nosographic classification of primary hyperviscosity conditions (Wells classification 1970) divided the primary hyperviscosity syndromes in polycythaemic, sclerocytemic and sieric. Recent and personal laboratory observations have highlighted an unexpected behaviour of the erythrocyte deformability observed in some haematological disorders such as polycythemia vera, multiple myeloma and monoclonal gammopathy of undetermined significance. The interest of this observation depends on the fact that up to now, according to the Wells cla…
Effect of high-frequency subthalamic neurostimulation on gait and freezing of gait in Parkinson's disease: a systematic review and meta-analysis.
2016
The aim of this meta-analysis was to summarize the short- and long-term effects of bilateral deep brain stimulation of the subthalamic nucleus (STN-DBS) on gait and freezing of gait (FOG) in Parkinson's disease and to detect predictors of post-stimulation outcome. A comprehensive review of the literature was conducted up to October 2015 using Medline Ovid databases for studies analyzing the effect of bilateral STN-DBS on FOG and/or gait. Sixteen studies with available data for the gait item (no. 29) of the Unified Parkinson's Disease Rating Scale (UPDRS) and six studies with the FOG item (no. 14) were included. Data were summarized for the following follow-up periods: 6-15, 24-48 and48 mont…
Postoperative rehabilitation after deep brain stimulation surgery for movement disorders.
2018
Deep brain stimulation (DBS) is a highly efficient, evidence-based therapy for a set of neurological and psychiatric conditions and especially movement disorders such as Parkinson's disease, essential tremor and dystonia. Recent developments have improved the DBS technology. However, no unequivocal algorithms for an optimized postoperative care exist so far. The aim of this review is to provide a synopsis of the current clinical practice and to propose guidelines for postoperative and rehabilitative care of patients who undergo DBS. A standardized work-up in the DBS centers adapted to each patient's clinical state and needs is important, including a meticulous evaluation of clinical improve…
Hyperresponsivity in migraine: a network dysfunction or an analytic cognitive style-connected feature?
2018
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Presence of Trichomonas spp. in oral ulcerations of a patient with kidney transplant. A case report
2020
Mucosal ulcerations are an oral complication that can often affect kidney transplant patients, mostly due to the effect of immunosuppression. It has been frequently reported drug-induced ulceration or lymphoproliferative disorders with buccal manifestations however, some unusual disorders should also be considered, such as fungal infections, viruses, as well as opportunistic infection by other microorganisms. Determining the etiology and differential diagnose from other causes of mouth ulcers is very important for the adequate treatment of said lesion. Dental health of patients should also be taken into the account prior to the transplant surgery, since periodontal pockets are the main nich…
Somatosensory Training Improves Proprioception and Untrained Motor Function in Parkinsons Disease
2018
Background: Proprioceptive impairment is a common feature of Parkinson's disease (PD). Proprioceptive function is only partially restored with anti-parkinsonian medication or deep brain stimulation. Behavioral exercises focusing on somatosensation have been promoted to overcome this therapeutic gap. However, conclusive evidence on the effectiveness of such somatosensory-focused behavioral training for improving somatosensory function is lacking. Moreover, it is unclear, if such training has any effect on motor performance in PD.Objective: To investigate, whether proprioception improves with a somatosensory focused, robot-aided training in people with PD (PWPs), and whether enhanced proprioc…
Automated Categorization of Parkinsonian Syndromes Using Magnetic Resonance Imaging in a Clinical Setting
2020
Background Machine learning algorithms using magnetic resonance imaging (MRI) data can accurately discriminate parkinsonian syndromes. Validation in patients recruited in routine clinical practice is missing. Objective The aim of this study was to assess the accuracy of a machine learning algorithm trained on a research cohort and tested on an independent clinical replication cohort for the categorization of parkinsonian syndromes. Methods Three hundred twenty-two subjects, including 94 healthy control subjects, 119 patients with Parkinson's disease (PD), 51 patients with progressive supranuclear palsy (PSP) with Richardson's syndrome, 35 with multiple system atrophy (MSA) of the parkinsoni…