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Taiwanese Journal of Obstetrics &... Mar 2012Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of arthrogryposis, fetal akinesia,... (Review)
Review
Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of arthrogryposis, fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma, pulmonary hypoplasia, cleft palate, cryptorchidism, cardiac defects and intestinal malrotation, and occasional pterygia of the limbs. Multiple pterygium syndrome is a clinically and genetically heterogeneous disorder characterized by pterygia of the neck, elbows and/or knees, arthrogryposis, and other phenotypic features such as short stature, genital abnormalities, craniofacial abnormalities, clubfoot, kyphoscoliosis, and cardiac abnormalities. Fetal akinesia deformation sequence may phenotypically overlap with the lethal type of multiple pterygium syndrome. This article provides a comprehensive review of prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders. Prenatal diagnosis of fetal akinesia along with cystic hygroma, increased nuchal translucency, nuchal edema, hydrops fetalis, arthrogryposis, pterygia, and other structural abnormalities should include a differential diagnosis of neuromuscular junction disorders. Genetic analysis of mutations in the neuromuscular junction genes such as CHRNA1, CHRND, CHRNG, CNTN1, DOK7, RAPSN, and SYNE1 may unveil the pathogenetic cause of fetal akinesia deformation sequence and multiple pterygium syndrome, and the information acquired is helpful for genetic counseling and clinical management.
Topics: Abnormalities, Multiple; Arthrogryposis; Female; Genetic Testing; Humans; Malignant Hyperthermia; Neuromuscular Junction Diseases; Pregnancy; Pterygium; Skin Abnormalities; Ultrasonography, Prenatal
PubMed: 22482962
DOI: 10.1016/j.tjog.2012.01.004 -
Journal of Parkinson's Disease 2022Parkinson's disease (PD) is known to affect the brain motor circuits involving the basal ganglia (BG) and to induce, among other signs, general slowness and paucity of... (Review)
Review
Parkinson's disease (PD) is known to affect the brain motor circuits involving the basal ganglia (BG) and to induce, among other signs, general slowness and paucity of movements. In upper limb movements, PD patients show a systematic prolongation of movement duration while maintaining a sufficient level of endpoint accuracy. PD appears to cause impairments not only in movement execution, but also in movement initiation and planning, as revealed by abnormal preparatory activity of motor-related brain areas. Grasping movement is affected as well, particularly in the coordination of the hand aperture with the transport phase. In the last fifty years, numerous behavioral studies attempted to clarify the mechanisms underlying these anomalies, speculating on the plausible role that the BG-thalamo-cortical circuitry may play in normal and pathological motor control. Still, many questions remain open, especially concerning the management of the speed-accuracy tradeoff and the online feedback control. In this review, we summarize the literature results on reaching and grasping in parkinsonian patients. We analyze the relevant hypotheses on the origins of dysfunction, by focusing on the motor control aspects involved in the different movement phases and the corresponding role played by the BG. We conclude with an insight into the innovative stimulation techniques and computational models recently proposed, which might be helpful in further clarifying the mechanisms through which PD affects reaching and grasping movements.
Topics: Basal Ganglia; Hand; Humans; Motor Cortex; Movement; Parkinson Disease; Psychomotor Performance
PubMed: 35253780
DOI: 10.3233/JPD-213082 -
Journal of Neurosurgical Sciences Jun 2016Deep brain stimulation (DBS) is used as a surgical treatment of movement disorders such as Parkinson's disease, dystonia and essential tremor. Fundamental understanding... (Review)
Review
Deep brain stimulation (DBS) is used as a surgical treatment of movement disorders such as Parkinson's disease, dystonia and essential tremor. Fundamental understanding of DBS effects on the pathological neural circuitry remains insufficient. In 2002 DBS of the subthalamic nucleus (STN) and the globus pallidus internus (GPi) was approved for use in patients with PD. Next year, DBS of Gpi and STN for dystonia received a Humanitarian Device exemption from the FDA. The commonly targets for DBS are subthalamic nucleus (STN) or globus pallidus internus (GPi) for Parkinson's disease, Gpi for dystonia and ventro-intermediate (VIM) nucleus of the thalamus for essential tremor. However, VIM DBS cannot sufficiently improve akinesia and rigidity. Pedunculopontine nucleus (PPN) is currently investigated as potential target to improve gait and posture. It is determined that DBS sometimes influences not only motor functions but also the cognitive and affective functions of patients. In this article we review the present state of DBS for movement disorders, appropriate indications, practical effects and stimulation-induced adverse events established in previous studies. We discuss target selection and the effect of DBS on motor and non-motor symptoms of Parkinson's disease, dystonia and essential tremor.
Topics: Deep Brain Stimulation; Essential Tremor; Globus Pallidus; Humans; Motor Activity; Parkinson Disease; Subthalamic Nucleus
PubMed: 27015393
DOI: No ID Found -
Translational Neurodegeneration 2019Different oscillations of brain networks could carry different dimensions of brain integration. We aimed to investigate oscillation-specific nodal alterations in... (Review)
Review
BACKGROUND
Different oscillations of brain networks could carry different dimensions of brain integration. We aimed to investigate oscillation-specific nodal alterations in patients with Parkinson's disease (PD) across early stage to middle stage by using graph theory-based analysis.
METHODS
Eighty-eight PD patients including 39 PD patients in the early stage (EPD) and 49 patients in the middle stage (MPD) and 36 controls were recruited in the present study. Graph theory-based network analyses from three oscillation frequencies (slow-5: 0.01-0.027 Hz; slow-4: 0.027-0.073 Hz; slow-3: 0.073-0.198 Hz) were analyzed. Nodal metrics (e.g. nodal degree centrality, betweenness centrality and nodal efficiency) were calculated.
RESULTS
Our results showed that (1) a divergent effect of oscillation frequencies on nodal metrics, especially on nodal degree centrality and nodal efficiency, that the anteroventral neocortex and subcortex had high nodal metrics within low oscillation frequencies while the posterolateral neocortex had high values within the relative high oscillation frequency was observed, which visually showed that network was perturbed in PD; (2) PD patients in early stage relatively preserved nodal properties while MPD patients showed widespread abnormalities, which was consistently detected within all three oscillation frequencies; (3) the involvement of basal ganglia could be specifically observed within slow-5 oscillation frequency in MPD patients; (4) logistic regression and receiver operating characteristic curve analyses demonstrated that some of those oscillation-specific nodal alterations had the ability to well discriminate PD patients from controls or MPD from EPD patients at the individual level; (5) occipital disruption within high frequency (slow-3) made a significant influence on motor impairment which was dominated by akinesia and rigidity.
CONCLUSIONS
Coupling various oscillations could provide potentially useful information for large-scale network and progressive oscillation-specific nodal alterations were observed in PD patients across early to middle stages.
PubMed: 31807287
DOI: 10.1186/s40035-019-0177-5 -
Circulation Journal : Official Journal... 2014Previous reports demonstrated mechanisms of cardiac toxicity in acute carbon monoxide (CO) poisoning. Still, none established CO-induced cardiomyopathy (CMP) as a...
BACKGROUND
Previous reports demonstrated mechanisms of cardiac toxicity in acute carbon monoxide (CO) poisoning. Still, none established CO-induced cardiomyopathy (CMP) as a clinical entity. The aim of this study is to investigate CO-induced CMP in patients with acute CO poisoning in terms of its epidemiology, clinical characteristics, and prognosis.
METHODS AND RESULTS
A retrospective study was conducted on consecutive patients who were diagnosed with acute CO poisoning at the emergency department of Ajou University Hospital during the period of 62 month. Six hundred and twenty-six patients were diagnosed with acute CO poisoning. During the initial echocardiography, 19 patients were abnormal: (1) global hypokinesia/akinesia (n=7), (2) regional wall hypokinesia/akinesia [n=12; takotsubo type (n=6), reverse takotsubo type (n=2), non-specific type (n=4)]. The ejection fraction (EF) was 36.3±13.5% (from 15% to 55%) and less than 45% for 14 patients. In the follow-up echocardiography performed within 12 days after the initial performance, most patients were found to have cardiac wall motion abnormalities, and their EF had returned to normal (ie, EF ≥50%).
CONCLUSIONS
CO-induced CMP was identified in 3.04% (n=19) of all patients (n=626). It might not be too critical in acute clinical courses of acute CO poisoning because the prognosis seems favorable. Considering the common factors between CO-induced CMP and takotsubo CMP, myocardial stunning subject to a catecholamine surge most likely plays a central role in the development of CO-induced CMP.
Topics: Acute Disease; Adolescent; Adult; Aged; Aged, 80 and over; Antimetabolites; Carbon Monoxide; Carbon Monoxide Poisoning; Cardiomegaly; Echocardiography; Female; Follow-Up Studies; Humans; Male; Middle Aged; Myocardial Contraction; Retrospective Studies; Stroke Volume
PubMed: 24705389
DOI: 10.1253/circj.cj-13-1282 -
Fujita Medical Journal 2021We compared the effects of sub-Tenon's capsule anesthesia (STA) and trans-Tenon's capsule retrobulbar anesthesia (TTRBA) in 68 patients with epiretinal membrane.
OBJECTIVES
We compared the effects of sub-Tenon's capsule anesthesia (STA) and trans-Tenon's capsule retrobulbar anesthesia (TTRBA) in 68 patients with epiretinal membrane.
METHODS
Either STA or TTRBA was induced with 3 mL of lidocaine (2%) before vitrectomy combined with phacoemulsification and aspiration (phacovitrectomy). Akinesia was evaluated by range of eye movement (ROEM) in upward, downward, nasal, and temporal directions at 4, 10, and 30 minutes after injection. Analgesia was evaluated with a visual analogue pain score, which ranged from 0 to 10.
RESULTS
The mean cumulative ROEMs were 1.44±1.02 corneal diameters (CDs) at 4 minutes, 0.55±0.76 CDs at 10 minutes, and 0.26±0.33 CDs at 30 minutes in patients who received STA; these values were 0.39±0.35 CDs at 4 minutes, 0.22±0.30 CDs at 10 minutes, and 0.13±0.29 CDs at 30 minutes in patients who received TTRBA. At both 4 and 10 minutes, the cumulative ROEMs in all directions, as well as the temporal ROEMs, were significantly larger in patients who received STA than in patients who received TTRBA. Pain scores did not significantly differ between groups at any time point.
CONCLUSIONS
STA and TTRBA produced identical degrees of analgesia, but akinesia was slower in patients who received STA. TTRBA might be preferable for patients undergoing brief vitrectomy.
PubMed: 35111553
DOI: 10.20407/fmj.2020-017 -
Brain : a Journal of Neurology Mar 2013Parkinson's disease is a chronic progressive neurodegenerative disorder characterized by resting tremor, slowness of movements, rigidity, gait disturbance and postural... (Review)
Review
Parkinson's disease is a chronic progressive neurodegenerative disorder characterized by resting tremor, slowness of movements, rigidity, gait disturbance and postural instability. Most investigations on Parkinson's disease focused on the basal ganglia, whereas the cerebellum has often been overlooked. However, increasing evidence suggests that the cerebellum may have certain roles in the pathophysiology of Parkinson's disease. Anatomical studies identified reciprocal connections between the basal ganglia and cerebellum. There are Parkinson's disease-related pathological changes in the cerebellum. Functional or morphological modulations in the cerebellum were detected related to akinesia/rigidity, tremor, gait disturbance, dyskinesia and some non-motor symptoms. It is likely that the major roles of the cerebellum in Parkinson's disease include pathological and compensatory effects. Pathological changes in the cerebellum might be induced by dopaminergic degeneration, abnormal drives from the basal ganglia and dopaminergic treatment, and may account for some clinical symptoms in Parkinson's disease. The compensatory effect may help maintain better motor and non-motor functions. The cerebellum is also a potential target for some parkinsonian symptoms. Our knowledge about the roles of the cerebellum in Parkinson's disease remains limited, and further attention to the cerebellum is warranted.
Topics: Cerebellum; Humans; Parkinson Disease
PubMed: 23404337
DOI: 10.1093/brain/aws360 -
Anesthesia, Essays and Researches 2022An ideal anesthetic solution should provide good anesthesia and akinesia with minimal pain on injection.
BACKGROUND
An ideal anesthetic solution should provide good anesthesia and akinesia with minimal pain on injection.
AIMS
The aim of this study is to determine the effect on pain perception and efficacy of sodium bicarbonate over hyaluronidase in the local anesthetic mixture during peribulbar anesthesia.
SETTINGS AND DESIGN
A prospective, randomized, double-blind study.
MATERIALS AND METHODS
An independent observer labeled two injections as A (hyaluronidase 1500 IU in 30 mL of lignocaine) and B (7.5% sodium bicarbonate 1 mL in 30 mL of lignocaine). Group 1 was injected with injection A while Group 2 was injected with injection B. The visual analog scale (VAS) was used to determine the intensity of pain. Onset and degree of anesthesia and akinesia were recorded.
STATISTICAL ANALYSIS
Computer software Microsoft Excel SPSS version 26 (Chicago Inc) for windows was used. The qualitative data and quantitative data were reported as proportions and mean ± (standard deviation), respectively. Chi-square test for proportions was used for the comparison of qualitative variables and unpaired Student's -test was used to test the significance between quantitative variables. < 0.05 was considered statistically significant. All were two-tailed.
RESULTS
Out of 123 patients, 23 were excluded from the study. Hundred patients were divided into Group 1 and Group 2. The mean age in Group 1 was 64.92 ± 10.77 years while in Group 2 was 62.86 ± 11.17 years. The mean heart rate and mean systolic blood pressure in both groups were statistically insignificant. Group 2 experienced very less pain (mean pain score VAS = 5.12 ± 1.17) as compared to Group 1 (mean pain score was 7.16 ± 1.09) and the difference between both the groups was found to be statistically significant. There was a significant difference in the onset of anesthesia in both groups ( = 0.001). In the sodium bicarbonate group, the onset was faster. The onset of akinesia was better in Group 1 (4.76 ± 2.06 min). Grading of akinesia was better in Group 1.
CONCLUSION
Sodium bicarbonate reduces pain on injection in peribulbar anesthesia and also results in a quicker onset of anesthesia.
PubMed: 36249141
DOI: 10.4103/aer.aer_128_21 -
The Indian Journal of Medical Research Jan 2016Parkinson`s disease (PD) is the most common neurodegenerative disease and is characterized by tremor, rigidity and akinesia. Diagnosis is clinical in the majority of the... (Review)
Review
Parkinson`s disease (PD) is the most common neurodegenerative disease and is characterized by tremor, rigidity and akinesia. Diagnosis is clinical in the majority of the patients. Patients with PD may have stooped posture but some of them develop different types of postural and striatal deformities. Usually these deformities are more common in atypical parkinsonian disorders such as progressive supranuclear palsy and multisystem atrophy. But in many studies it has been highlighted that these may also be present in approximately one third of PD patients leading to severe disability. These include antecollis or dropped head, camptocormia, p0 isa syndrome, scoliosis, striatal hands and striatal toes. The pathogenesis of these deformities is a complex combination of central and peripheral influences such as rigidity, dystonia and degenerative skeletal changes. Duration of parkinsonism symptoms is an important risk factor and in majority of the patients these deformities are seen in advanced statge of the disease. The patients with such symptoms may initially respond to dopaminergic medications but if not intervened they may become fixed and difficult to treat. Pain and restriction of movement are most common clinical manifestations and these may mimick symptoms of musculoskeletal disorders like rheumatoid arthritis. Early diagnosis is important as the patients may respond to adjustment in dopaminergic medications. Recent advances such as deep brain stimulation (DBS) and ultrasound guided botulinum toxin injection are helpful in management of these deformities in patients with PD.
Topics: Brain; Congenital Abnormalities; Corpus Striatum; Humans; Parkinson Disease; Posture
PubMed: 26997007
DOI: 10.4103/0971-5916.178577 -
Annals of Neurosciences Apr 2011Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease. It is characterized by bradykinesia, hypokinesia/ akinesia,... (Review)
Review
Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease. It is characterized by bradykinesia, hypokinesia/ akinesia, rigidity, tremor, and postural instability, caused by dopaminergic (DA) striatal denervation. The prevalence of PD increases from 50 years of age with steep rise after age 60 years. Current treatment of PD relies heavily on replacing lost dopamine either with its precursor L-dopa or dopamine agonists (ropinirole, pramipexole, bromocriptine, lisuride etc). Other pharmacological measures like catechol-O-methyltrasferase (COMT) inhibitors like entacopone, telcapone and monoamine oxidase B (MAO-B) inhibitors like selegiline and rasagiline are also useful, while L-dopa remains the gold standard in the treatment of PD. Emerging therapies are focusing on cell based therapeutics derived from various sources.
PubMed: 25205926
DOI: 10.5214/ans.0972.7531.1118209