Neurological Conditions (neurological + condition)

Distribution by Scientific Domains
Distribution within Medical Sciences

Selected Abstracts

Correlates of specific childhood feeding problems

D Field
Objective: The correlates of specific childhood feeding problems are described to further examine possible predisposing factors for feeding problems. We report our experience with 349 participants evaluated by an interdisciplinary feeding team. Methods: A review of records was conducted and each participant was identified as having one or more of five functionally defined feeding problems: food refusal, food selectivity by type, food selectivity by texture, oral motor delays, or dysphagia. The prevalence of predisposing factors for these feeding problems was examined. Predisposing factors included developmental disabilities, gastrointestinal problems, cardiopulmonary problems, neurological problems, renal disease and anatomical anomalies. Results: The frequencies of predisposing factors varied by feeding problem. Differences were found in the prevalence of the five feeding problems among children with three different developmental disabilities: autism, Down syndrome and cerebral palsy. Gastro-oesophageal reflux was the most prevalent condition found among all children in the sample and was the factor most often associated with food refusal. Neurological conditions and anatomical anomalies were highly associated with skill deficits, such as oral motor delays and dysphagia. Conclusions: Specific medical conditions and developmental disabilities are often associated with certain feeding problems. Information concerning predisposing factors of feeding problems can help providers employ appropriate primary, secondary and tertiary prevention measures to decrease the frequency or severity of some feeding problems. [source]

Aminoglycoside-mediated partial suppression of MECP2 nonsense mutations responsible for Rett syndrome in vitro

Andreea C. Popescu
Abstract Rett syndrome is a pediatric neurological condition that affects primarily girls. Approximately 30% of Rett syndrome cases arise from point mutations that introduce a premature stop codon into the MECP2 gene. Several studies have now shown that certain aminoglycosides can facilitate read-through of some types of nonsense mutations in a context-dependent manner and allow the generation of a full-length protein. It remains mostly unclear whether different nonsense mutations of MECP2 will be responsive to aminoglycoside treatment. In this study, we tested whether the common premature terminating mutations of MECP2 seen in Rett syndrome cases can be partially suppressed by aminoglycoside administration. Our results show that aminoglycosides allow different mutant forms of MECP2 to be overcome in transiently transfected HEK293 cells, but with differing levels of efficiency. In addition, we also show that aminoglycosides increased the prevalence of full-length MeCP2 protein in a dose-dependent manner in a lymphocyte cell line derived from a Rett syndrome girl with the R255X mutation. This study helps to establish the "proof of principle" that some nonsense mutations causing Rett syndrome can be at least partially suppressed by drug treatment. © 2010 Wiley-Liss, Inc. [source]

Movement disorders in patients with peripheral facial palsy,

Josep Valls-Solé MD
Abstract Acute unilateral facial paralysis is usually a benign neurological condition that resolves in a few weeks. However, it can also be the source of a transient or long-lasting severe motor dysfunction, featuring disorders of automatic and voluntary movement. This review is organized according to the two most easily recognizable phases in the evolution of facial paralysis: (1) Just after presentation of facial palsy, patients may exhibit an increase in their spontaneous blinking rate as well as a sustained low-level contraction of the muscles of the nonparalyzed side, occasionally leading to blepharospasm-like muscle activity. This finding may be due to an increase in the excitability of facial motoneurons and brainstem interneurons mediating trigeminofacial reflexes. (2) If axonal damage has occurred, axonal regeneration beginning at approximately 3 months after the lesion leads inevitably to clinically evident or subclinical hyperactivity of the previously paralyzed hemifacial muscles. The full-blown postparalytic facial syndrome consists of synkinesis, myokymia, and unwanted hemifacial mass contractions accompanying normal facial movements. The syndrome has probably multiple pathophysiological mechanisms, including abnormal axonal branching after aberrant axonal regeneration and enhanced facial motoneuronal excitability. Although the syndrome is relieved with local injections of botulinum toxin, fear of such uncomfortable contractions may lead the patients to avoid certain facial movements, with the implications that this behavior might have on their emotional expressions. © 2003 Movement Disorder Society [source]

Corticobasal degeneration as cause of progressive non-fluent aphasia: Clinical, radiological and pathological study of an autopsy case

Masaki Takao
A Japanese male developed gradual loss of spontaneous speech at age 60. Three years later meaningful speech had deteriorated to the point that it had become restricted to monotonous utterances. Neuropsychological examination at age 62 showed that he had severe non-fluent aphasia. A brain MRI demonstrated mild cortical atrophy with ischemic lesions in the cerebral white matter. He was diagnosed as having primary progressive aphasia. At age 63, he was admitted to the hospital to reevaluate the neurological condition. Neurologic examination showed severe non-fluent aphasia, hyperreflexia, snout and sucking reflexes. No alien hand was observed. He was able to walk, dress, wash himself and use chopsticks as well as name real objects. At age 65, 99mTc-hexamethylpropyleneamine oxime single photon emission computed tomography (HMPAO-SPECT) revealed diffuse cerebral hypoperfusion that was particularly prominent in the left frontal lobe. An MRI showed progressive cortical atrophy with the definite atrophy of the left paracentral gyrus. The hippocampal formation and putamen were also atrophic. He died of pneumonia at age 67. The brain weighed 810 g with atrophy of the frontal lobe, globus pallidus, enlargement of the lateral ventricles and depigmentation of the substantia nigra. Microscopic examination showed severe neuronal loss and gliosis in the cerebral cortex, globus pallidus interna and substantia nigra. Ballooned neurons were observed in the cerebral cortex. Gallyas-Braak method revealed numerous astrocytic plaques and argentophilic threads in the cerebrum. Clinical diagnosis of corticobasal degeneration sometimes is difficult in individuals with atypical clinical presentations. More exact clinical and radiological criteria may warrant a diagnosis of corticobasal degeneration. [source]

APA national audit of pediatric opioid infusions

Summary Introduction:, A prospective audit of neonates, infants, and children receiving opioid infusion techniques managed by pediatric acute pain teams from across the United Kingdom and Eire was undertaken over a period of 17 months. The aim was to determine the incidence, nature, and severity of serious clinical incidents (SCIs) associated with the techniques of continuous opioid infusion, patient-controlled analgesia, and nurse-controlled analgesia in patients aged 0,18. Methods:, The audit was funded by the Association of Paediatric Anaesthetists (APA) and performed by the acute pain services of 18 centers throughout the United Kingdom. Data were submitted weekly via a web-based return form designed by the Document Capture Company that documented data on all patients receiving opioid infusions and any SCIs. Eight categories of SCI were identified in advance, and the reported SCIs were graded in terms of severity (Grade 1 (death/permanent harm); Grade 2 (harm but full recovery and resulting in termination of the technique or needing significant intervention); Grade 3 (potential but no actual harm). Data were collected over a period of 17 months (25/06/07-25/11/08) and stored on a secure server for analysis. Results:, Forty-six SCIs were reported in 10 726 opioid infusion techniques. One Grade 1 incident (1 : 10 726) of cardiac arrest occurred and was associated with aspiration pneumonitis and the underlying neurological condition, neurocutaneous melanosis. Twenty-eight Grade 2 incidents (1 : 383) were reported of which half were respiratory depression. The seventeen Grade 3 incidents (1 : 631) were all drug errors because of programming or prescribing errors and were all reported by one center. Conclusions:, The overall incidence of 1 : 10 000 of serious harm with opioid infusion techniques in children is comparable to the risks with pediatric epidural infusions and central blocks identified by two recent UK national audits (1,2). Avoidable factors were identified including prescription and pump programming errors, use of concurrent sedatives or opioids by different routes and overgenerous dosing in infants. Early respiratory depression in patients with specific risk factors, such as young age, neurodevelopmental, respiratory, or cardiac comorbidities, who are receiving nurse-controlled analgesia or continuous opioid infusion suggests that closer monitoring for at least 2 h is needed for these cases. As a result of this audit, we can provide parents with better information on relative risks to help the process of informed consent. [source]

Fatal deterioration of neurological disease after orthotopic liver transplantation for valproic acid-induced liver damage

Nilüfer Kayihan
Abstract: We describe a 12-year-old girl with an early onset neurologic disease of slow progressiveness and electro-encephalography showing epileptic activity. The girl developed fulminant liver failure 5 months after the start of valproic acid treatment. Repeated mitochondrial assays failed to prove a mitochondrial disorder, but muscle biopsies were slightly pathological. Liver histology indicated acute-on-chronic liver disease. Six weeks after a successful orthotopic liver transplantation her neurological condition deteriorated rapidly, soon leading to generalized cortical disease and death. Post-mortem brain examination showed advanced central nervous destruction. We suggest that this is a late-onset Huttenlocher variant of Alpers' syndrome, where fulminant liver failure can be triggered by valproic acid, and orthotopic liver transplantation can subsequently trigger a fatal neurologic deterioration. Our case illustrates that when a referral center receives a previously unknown patient with hepatocellular insufficiency, it might be impossible to differentiate between fulminant vs. acute-on-chronic liver failure, and the decision whether to perform a liver transplantation or not would become difficult. [source]

CASE REPORT: Dexmedetomidine for awake fibreoptic intubation and awake self-positioning in a patient with a critically located cervical lesion for surgical removal of infra-tentorial tumour

ANAESTHESIA, Issue 9 2010
K. Sriganesh
Summary Cervical lesions compressing the spinal cord pose a significant risk of exacerbating the existing neurological condition during tracheal intubation and subsequent positioning. Awake fibreoptic-assisted intubation is a suitable option in such situations. We describe how the use of dexmedetomidine for sedation during awake fibreoptic intubation also facilitated self-positioning before surgery in a patient with a cervical cord compressive lesion and raised intracranial pressure undergoing excision of a cerebellopontine angle lesion in the lateral position, without any adverse neurological outcome. [source]

Progressive neurological signs associated with systemic mastocytosis in a dog

A 9-year-old dog was presented with nonregenerative anaemia and severe thrombocytopenia, diarrhoea, spinal hyperalgesia and progressive hindlimb paresis. A moderately well differentiated cutaneous mast cell tumour (MCT) was removed from the skin of the right elbow along with the enlarged right prescapular lymph node. Due to deterioration of the dog's neurological condition, euthanasia was performed. On necropsy examination, haemorrhage and accumulations of poorly differentiated mast cells were found in the lumbosacral region and cauda equina. This article describes an unusual presentation of systemic mastocytosis and the previously unreported finding of metastasis of mast cells to the spinal cord. [source]

Oral administration of a tri-therapy for central pattern generator activation in paraplegic mice: Proof-of-concept of efficacy

Pierre A. Guertin Dr.
Abstract Spinal cord injury (SCI) is a neurological condition, for which no cure exists, typically leading to an immediate and irreversible loss of sensory and voluntary motor functions accompanied by significant health problems. We conducted proof-of-concept experiments aimed at assessing efficacy upon oral administration of a novel combination therapy for central pattern generator (CPG) activation and corresponding locomotor movement generation in completely paraplegic animals. Co-administration orally (by gavage) of buspirone, levodopa and carbidopa was found to dose-dependently induce episodes of steady weight-bearing stepping in low-thoracic (Th9/10) spinal cord-transected (Tx) mice (with no other form of assistance or training). Robust hindlimb stepping with weight-bearing capabilities was induced with the tri-therapy but not with clinically relevant doses of these compounds administered separately. These results provide evidence suggesting that this drug combination may be ideally suited to constitute a first-in-class therapy (CPG activator) for locomotor activity induction in chronic SCI individuals, given that efficacy was shown using commercially available brain-permeable small molecules, already known as safe for the treatment of various neurological indications. [source]

Health status and life satisfaction after decompressive craniectomy for malignant middle cerebral artery infarction

T. S. Skoglund
Objectives,,, To study the long-term outcome in patients with malignant middle cerebral artery (MCA) infarction treated with decompressive craniectomy. The outcome is described in terms of survival, impairment, disabilities and life satisfaction. Materials and methods,,, Patients were examined at a minimum of 1 year (mean 2.9, range 1,6) after the surgery and classified according to the Glasgow Outcome Scale (GOS), the National Institutes of Health Stroke scale (NIHSS), the Barthel Index (BI), the short-form health survey (SF-36) and the life satisfaction checklist (LiSat-11). Results,,, Eighteen patients were included. The long-term survival was 78%. The mean NIHSS score was 13.8 (range 6,20). No patient was left in a vegetative state. The mean BI was 63.9 (5-100). The SF-36 scores showed that the patients' view of their health was significantly lower in most items compared with that of a reference group. According to the LiSat checklist, 83% found their life satisfying/rather satisfying and 17% found their life rather dissatisfying/dissatisfying. Conclusion,,, We conclude that the patients remained in an impaired neurological condition, but had fairly good insight into their limitations. Although their life satisfaction was lower compared with that of the controls, the majority felt that life in general could still be satisfying. [source]

Objective assessment of neurotoxicity while shifting from carbamazepine to oxcarbazepine

B. Clemens
Objectives , Objective assessment of non-overt neurotoxicity of carbamazepine (CBZ) vs oxcarbazepine (OXC) in patients with difficult-to-treat partial epilepsy, who were resistant to CBZ treatment and were converted from CBZ monotherapy to OXC monotherapy. Material and methods , Therapeutically equivalent doses (150 mg OXC for every 100 mg CBZ) were compared in 20 adult patients. Neurological investigation, conventional and spectral EEG analysis, brainstem auditory evoked responses (BAER) were carried out in both treatment conditions. EEG and BAER data of 20 age-matched healthy controls helped interpretation. Primary target variables (electrophysiological parameters) were evaluated blindly. Results , There were no significant differences between treatment conditions concerning the neurological condition, lack of clinically evident neurotoxicity, seizure frequency and EEG spike frequency. OXC treatment was characterized by less delta, theta, and alpha power, more beta power, and significantly greater mean alpha frequency (P = 0.03 and 0.05 for the left and right occipital leads, respectively), than CBZ treatment. Interpeak latencies were prolonged in the CBZ condition as compared with normals (P = 0.01) and OXC (P = 0.02). Conclusion , In this cohort of patients substitution of OXC for CBZ was associated with significant normalization of electrophysiological parameters, indicating decreasing neurotoxicity while shifting from CBZ to OXC monotherapy. [source]

The influence of cognitive impairment on health-related quality of life in neurological disease

Alex J. Mitchell
Mitchell AJ, Kemp S, Benito-León J, Reuber M. The influence of cognitive impairment on health-related quality of life in neurological disease. Background: Cognitive impairment is the most consistent neurological complication of acquired and degenerative brain disorders. Historically, most focus was on dementia but now has been broadened to include the important construct of mild cognitive impairment. Methods: Systematic search and review of articles linked quality of life (QoL) and cognitive complications of neurological disorders. We excluded QoL in dementia. Results: Our search identified 249 publications. Most research examined patients with brain tumours, stroke, epilepsy, head injury, Huntington's disease, motor neuron disease, multiple sclerosis and Parkinson's disease. Results suggested that the majority of patients with epilepsy, motor neuron disease, multiple sclerosis, Parkinson's disease, stroke and head injury have subtle cognitive deficits early in their disease course. These cognitive complaints are often overlooked by clinicians. In many cases, the cognitive impairment is progressive but it can also be relapsing-remitting and in some cases reversible. Despite the importance of severe cognitive impairment in the form of dementia, there is now increasing recognition of a broad spectrum of impairment, including those with subclinical or mild cognitive impairment. Even mild cognitive difficulties can have functional and psychiatric consequences,especially when they are persistent and untreated. Specific cognitive deficits such an inattention, dysexecutive function and processing speed may affect a number of quality of life (QoL) domains. For example, cognitive impairment influences return to work, interpersonal relationships and leisure activities. In addition, fear of future cognitive decline may also impact upon QoL. Conclusions: We recommend further development of simple tools to screen for cognitive impairments in each neurological condition. We also recommend that a thorough cognitive assessment should be a part of routine clinical practice in those caring for individuals with neurological disorders. [source]

Approach to seizures in the neonatal period: a European perspective

M Vento
Abstract In the neonatal period, seizures rank among the most common neurological symptoms, often indicating an underlying serious neurological condition. It is remarkable that although new tools have been incorporated into the diagnosis of neonatal seizures, there is no consensus about the therapeutic approach among different doctors and institutions. Hence, although phenobarbital is still considered the initial drug of choice, the protocols reported in the literature show a great variability in the approach to treatment of refractory seizures. We used a questionnaire to gain information regarding the treatment of seizures in the neonatal period in different European institutions. Conclusion:, We conclude that phenobarbital is still the initial drug of choice followed by benzodiazepines, except in preterm infants with a birth weight below 1800 g. In refractory seizures, the use of continuous lidocaine infusion is most common. Of note, clinical studies with newer drugs have been mostly performed in the United States but not in Europe. [source]

Restless legs syndrome: an update on genetics and future perspectives

I Pichler
Restless legs syndrome (RLS) is a common, underdiagnosed neurological condition with an age-dependent prevalence of up to 14%. Familial aggregation has been widely shown since Ekbom's first description of the disorder in 1945. Five loci (12q, 14q, 9p, 2q, and 20p) have been described so far, although no positive association with any specific genes, either within these loci or additional candidates investigated, has been reported. Two recent genome-wide association studies have reported positive association with sequence variants in or around specific genes on chromosomes 6p, 2p and 15q. The molecular findings, together with the variable expressivity of the phenotype, suggest a substantial clinical and genetic heterogeneity of RLS. This article reviews the clinical characteristics, diagnosis and epidemiology with a focus on the genetics and pathogenesis of RLS. [source]

Treatment of X-linked childhood cerebral adrenoleukodystrophy by the use of an allogeneic stem cell transplantation with reduced intensity conditioning regimen

Igor B Resnick
Abstract:, Childhood cerebral form of X-linked adrenoleukodystrophy (X-ALD) is a rapidly progressive demyelinating condition affecting the cerebral white matter, which rapidly leads to total disability and death. The only known curative treatment for this condition is allogeneic hematopoietic stem cell transplantation (HSCT). Procedure-related toxicity is assumed to be the cause of death of patients with X-ALD. Three cases of ALD successfully transplanted with the use of non-myeloablative fludarabine based conditioning are described. Patients showed smooth peri-bone marrow transplantation course with fast and stable engraftment. In the 3- to 5 yr follow-up period, patients showed no deterioration in their clinical and neurological condition. Levels of very long chain fatty acids were very variable and had a tendency to decrease in at least one of the three patients. In another patient, an improvement of magnetic resonance imaging changes was found. Non-myeloablative HSCT should be considered as an early treatment for X-ALD. [source]

Hypocretin/orexin and narcolepsy: new basic and clinical insights

S. Nishino
Abstract Narcolepsy is a chronic sleep disorder, characterized by excessive daytime sleepiness (EDS), cataplexy, sleep paralysis and hypnagogic hallucinations. Both sporadic (95%) and familial (5%) forms of narcolepsy exist in humans. The major pathophysiology of human narcolepsy has been recently discovered based on the discovery of narcolepsy genes in animals; the genes involved in the pathology of the hypocretin/orexin ligand and its receptor. Mutations in hypocretin-related genes are rare in humans, but hypocretin ligand deficiency is found in a large majority of narcolepsy with cataplexy. Hypocretin ligand deficiency in human narcolepsy is probably due to the post-natal cell death of hypocretin neurones. Although a close association between human leucocyte antigen (HLA) and human narcolepsy with cataplexy suggests an involvement of autoimmune mechanisms, this has not yet been proved. Hypocretin deficiency is also found in symptomatic cases of narcolepsy and EDS with various neurological conditions, including immune-mediated neurological disorders, such as Guillain,Barre syndrome, MA2-positive paraneoplastic syndrome and neuromyelitis optica (NMO)-related disorder. The findings in symptomatic narcoleptic cases may have significant clinical relevance to the understanding of the mechanisms of hypocretin cell death and choice of treatment option. The discoveries in human cases lead to the establishment of the new diagnostic test of narcolepsy (i.e. low cerebrospinal fluid hypocretin-1 levels for ,narcolepsy with cataplexy' and ,narcolepsy due to medical condition'). As a large majority of human narcolepsy patients are ligand deficient, hypocretin replacement therapy may be a promising new therapeutic option, and animal experiments using gene therapy and cell transplantations are in progress. [source]

The use of tiagabine in pediatric spasticity management

Mary Lynn Chu MD
Tiagabine, developed as an anti-epileptic medication, has the potential to reduce spasticity. The purpose of the present study was to assess the effectiveness of tiagabine in decreasing spasticity and improving the functional abilities of children with spastic cerebral palsy (CP). Nine children (seven females, two males) with CP (six spastic quadriplegia, three moderate to severe spastic diplegia) were treated with tiagabine for a mean of 7.2 months. Median age was 4y 5mo (range 3y 2mo-10y). All children were non-ambulatory. According to the Gross Motor Function Classification System, six were Level IV and three were Level V. Only one child showed a median decrease ,1.0 grade on the modified Ashworth scale in upper extremities, lower extremities, and overall. Another child had significant improvement in the Pediatric Evaluation of Disability Inventory Self-care score and improved feeding. None of the participants was found to have a significant improvement in motor function or a decrease in the number of motions (passive range of motion and muscle length test) that were limited. Reduction of nocturnal awakenings from painful spasms was reported in one child. Eight of the nine children experienced adverse side-effects during treatment. Although tiagabine was not found to be effective in decreasing children's spasticity or improving their function, its potential use in the relief of painful spasms associated with neurological conditions in the pediatric population warrants further investigation. [source]

Therapeutic effects of functional electrical stimulation of the upper limb of eight children with cerebral palsy

P A Wright BSc PhD
Functional electrical stimulation (FES) of the upper limb has been used for patients with a variety of neurological conditions, although few studies have been conducted on its use on the upper limb of children with cerebral palsy (CP). The aim of this study was to investigate the effect of cyclic FES on the wrist extensor muscles of a group of eight children (five boys, three girls) with hemiplegic CP (mean age 10 years). The study design involved a baseline (3 weeks), treatment (6 weeks), and follow-up (6 weeks). FES was applied for 30 minutes daily during the treatment period of the study. Improvements in hand function (p,0.039) and active wrist extension (p=0.031) were observed at the end of the treatment period. These improvements were largely maintained until the end of the follow-up period. No significant change was observed in the measurements of wrist extension moment during the treatment period (p=0.274). Hand function in this group of children improved after they were exposed to FES of wrist extensor muscles. This suggests that FES could become a useful adjunct therapy to complement existing management strategies available for this patient population. [source]

A Case of "Migralepsy"

EPILEPSIA, Issue 2005
Tracey A. Milligan
Summary:, Migraine and epilepsy are common neurological conditions that may share a pathophysiologic and genetic basis. The following case is presented to illustrate key aspects of their relationship. [source]

Psychological assessment of malingering in psychogenic neurological disorders and non-psychogenic neurological disorders: relationship to psychopathology levels

M. Van Beilen
Background and purpose:, It remains unknown whether psychological distress causes malingering in patients with psychogenic symptoms. Methods:, We studied 26 patients with psychogenic neurological disorders on psychopathology and malingering in comparison with 26 patients with various neurological conditions and 18 matched healthy controls (HC). Results:, Psychogenic patients showed the highest levels of psychological complaints and malingering, but non-psychogenic neurological patients also showed significantly more psychological distress and malingering compared with HC. Psychological distress was related to the degree of malingering, in both patient groups. Conclusion:, This data does not formally support a causal relationship between psychological distress and psychogenic neurological disorders, but suggests that a part of the psychological complaints is a general result of having an illness. The clinical implication of this study is that psychological distress is not sufficient for diagnosing functional complaints. Also, if a patient scores normal on a test for malingering, this does not mean that he or she is not suffering from psychogenic symptoms. [source]

Ocular complications of neurological therapy

S. Hadjikoutis
Treatments used for several neurological conditions may adversely affect the eye. Vigabatrin-related retinal toxicity leads to a visual field defect. Optic neuropathy may result from ethambutol and isoniazid, and from radiation therapy. Posterior subcapsular cataract is associated with systemic corticosteroids. Transient refractive error changes may follow treatment with acetazolamide or topiramate, and corneal deposits and keratitis with amandatine. Intraocular pressure can be elevated in susceptible individuals by anticholinergic drugs, including oxybutynin, tolterodine, benzhexol, propantheline, atropine and amitriptyline, and also by systemic corticosteroids and by topiramate. Nystagmus, diplopia and extraocular muscle palsies can occur with antiepileptic drugs, particularly phenytoin and carbamazepine. Ocular neuromyotonia can follow parasellar radiation. Congenital ocular malformations can result from in utero exposure to maternally prescribed sodium valproate, phenytoin and carbamazepine. Neurologists must be aware of potential ocular toxicity of these drugs, and appropriately monitor for potential adverse events. [source]

Differential galanin receptor-1 and galanin expression by 5-HT neurons in dorsal raphé nucleus of rat and mouse: evidence for species-dependent modulation of serotonin transmission

Jari A. Larm
Abstract Galanin and galanin receptors are widely expressed by neurons in rat brain that either synthesize/release and/or are responsive to, classical transmitters such as ,-aminobutyric acid, acetylcholine, noradrenaline, histamine, dopamine and serotonin (5-hydroxytryptamine, 5-HT). The dorsal raphé nucleus (DRN) contains , 50% of the 5-HT neurons in the rat brain and a high percentage of these cells coexpress galanin and are responsive to exogenous galanin in vitro. However, the precise identity of the galanin receptor(s) present on these 5-HT neurons has not been previously established. Thus, the current study used a polyclonal antibody for the galanin receptor-1 (GalR1) to examine the possible expression of this receptor within the DRN of the rat and for comparative purposes also in the mouse. In the rat, intense GalR1-immunoreactivity (IR) was detected in a substantial population of 5-HT-immunoreactive neurons in the DRN, with prominent receptor immunostaining associated with soma and proximal dendrites. GalR1-IR was also observed in many cells within the adjacent median raphé nucleus. In mouse DRN, neurons exhibited similar levels and distribution of 5-HT-IR to that in the rat, but GalR1-IR was undetectable. Consistent with this, galanin and GalR1 mRNA were also undetectable in mouse DRN by in situ hybridization histochemistry, despite the detection of GalR1 mRNA (and GalR1-IR) in adjacent cells in the periaqueductal grey and other midbrain areas. 5-HT neuron activity in the DRN is primarily regulated via 5-HT1A autoreceptors, via inhibition of adenylate cyclase and activation of inward-rectifying K+ channels. Notably, the GalR1 receptor subtype signals via identical mechanisms and our findings establish that galanin modulates 5-HT neuron activity in the DRN of the rat via GalR1 (auto)receptors. However, these studies also identify important species differences in the relationship between midbrain galanin and 5-HT systems, which should prompt further investigations in relation to comparative human neurochemistry and which have implications for studies of animal models of relevant neurological conditions such as stress, anxiety and depression. [source]

Intracranial haemorrhage in patients with congenital haemostatic defects

HAEMOPHILIA, Issue 5 2008
Summary., We investigated 52 of 457 patients with congenital factor deficiencies with 57 episodes of intracranial haemorrhage (ICH) between 1998 and 2007. There were 38 severe haemophiliacs, 6 with factor XIII deficiency, 5 with factor X deficiency, 2 factor V-deficient patients, and 1 with type 3 von Willebrand disease (VWD). The median age was 8 years (range 1 month,22 years). Most patients were below 15 years of age (86.5%). All patients with factor X deficiency were between 1 and 5 months of age. ICH was the primary bleeding episode leading to detection of factor deficiency in 19.2% (five patients with severe haemophilia and all patients with factor X deficiency). Trauma caused bleeding in 66%. None of the patients with factor X deficiency had history of prior trauma. Surgery was performed in five patients with subdural haematomas, all of whom survived. Conservative factor replacement with 100% correction for 3 days followed by 50,60% correction for 7 days was possible in 60% patients. Seizures requiring prolonged therapy were noted in eight patients. Death was recorded in 15 patients (29%). Inadequate therapy in the form of delay or insufficient replacement was noted in 7/15 deaths. ICH was seen in 11.3% of all patients with coagulation factor deficiencies. Factor X deficiency presented with ICH at an earlier age. Inadequate replacement therapy including delayed treatment caused nearly 50% of all deaths. Most patients can be managed satisfactorily with adequate replacement therapy alone, with surgery being reserved for those with worsening neurological conditions. [source]

Caliber Fluctuations of Cervical Internal Carotid Artery and Migraine With Aura: A Possible Vasospasm Detected by Ultrasonographic Examinations

HEADACHE, Issue 7 2009
Susanna Usai MD
Caliber fluctuations of extra- and intracranial arteries, mostly related to vasospasm, are often recognized in various neurological conditions. We report a case of a 33-year-old woman affected by migraine with and without aura who exhibited a possible cervical internal carotid artery vasospasm, detected by ultrasound, before a typical migraine aura. [source]

Screening for mild cognitive impairment: a systematic review

Jane A. Lonie
Abstract Objective Patients with mild cognitive impairment account for a significant number of referrals to old age psychiatry services and specialist memory clinics. The cognitive evaluation of such patients is commonly restricted to brief dementia screens, with no consideration to their suitability for assessing MCI. Here, we review the utility of such cognitive screens for MCI and provide an overview of validated instruments. Methods We identified papers published after Petersen and colleagues 1999 MCI criteria (Petersen et al., 1999) and examining face-to-face cognitive screening for MCI from publication databases using combinations of the search terms ,mild cognitive impairment' and ,cognitive screening'. We also combined the former search with the names of 39 screening tests recently identified in a relevant review (Cullen et al., 2007). Results Fifteen cognitive screening instruments were identified, 11 cover a restricted range of cognitive domains. High sensitivity and specificity for MCI relative to healthy controls were reported for two comprehensive and two noncomprehensive screening instruments, adequate test-retest and inter-rater reliability for only one of these. With the exception of three studies, sample sizes were universally small (i.e. n,,,100), and prognostic values were reported for only two of the identified 15 screening measures. Sensitivities of the full domain measures were universally high, but information about their specificity against psychiatric and non-progressive neurological conditions and predictive validity is lacking. Conclusion Several cognitive screening instruments afford the clinician the ability to detect MCI, early AD, and in some cases non-AD dementia, but they cannot currently be used to make reliable inferences about the course and eventual outcome of MCI. Copyright © 2009 John Wiley & Sons, Ltd. [source]

Renewed focus on the developing human neocortex

Gavin Clowry
Abstract Many specifically human psychiatric and neurological conditions have developmental origins. Rodent models are extremely valuable for the investigation of brain development, but cannot provide insight into aspects that are specifically human. The human brain, and particularly the cerebral cortex, has some unique genetic, molecular, cellular and anatomical features, and these need to be further explored. Cortical expansion in human is not just quantitative; there are some novel types of neurons and cytoarchitectonic areas identified by their gene expression, connectivity and functions that do not exist in rodents. Recent research into human brain development has revealed more elaborated neurogenetic compartments, radial and tangential migration, transient cell layers in the subplate, and a greater diversity of early-generated neurons, including predecessor neurons. Recently there has been a renaissance of the study of human brain development because of these unique differences, made possible by the availability of new techniques. This review gives a flavour of the recent studies stemming from this renewed focus on the developing human brain. [source]

Functional implications for Kir4.1 channels in glial biology: from K+ buffering to cell differentiation

Michelle L. Olsen
Abstract Astrocytes and oligodendrocytes are characterized by a very negative resting potential and a high resting permeability for K+ ions. Early pharmacological and biophysical studies suggested that the resting potential is established by the activity of inwardly rectifying, Ba2+ sensitive, weakly rectifying Kir channels. Molecular cloning has identified 16 Kir channels genes of which several mRNA transcripts and protein products have been identified in glial cells. However, genetic deletion and siRNA knock-down studies suggest that the resting conductance of astrocytes and oligodendrocytes is largely due to Kir4.1. Loss of Kir4.1 causes membrane depolarization, and a break-down of K+ and glutamate homeostasis which results in seizures and wide-spread white matter pathology. Kir channels have also been shown to act as critical regulators of cell division whereby Kir function is correlated with an exit from the cell cycle. Conversely, loss of functional Kir channels is associated with re-entry of cells into the cell cycle and gliosis. A loss of functional Kir channels has been shown in a number of neurological diseases including temporal lobe epilepsy, amyotrophic lateral sclerosis, retinal degeneration and malignant gliomas. In the latter, expression of Kir4.1 is sufficient to arrest the aberrant growth of these glial derived tumor cells. Kir4.1 therefore represents a potential therapeutic target in a wide variety of neurological conditions. [source]

Developing Good Practice in the Clinical Assessment of People With Profound Intellectual Disabilities and Multiple Impairment

Steve Carnaby
Abstract, The task of assessing people with profound intellectual disabilities and multiple impairments can be a daunting one, for experienced and newly qualified clinicians and practitioners alike. Difficulties with definitions in the context of challenging, excluding service delivery models can sometimes lead to incoherent and inconsistent approaches. The author examines a number of issues, including the paucity of adequately sensitive, standardized assessment tools, the importance of collaborative working, and the acknowledgment that services can be ill-equipped to face the challenges presented by people with such complex and chronic support needs. The role of an overly generic service philosophy in potentially limiting the work of clinicians is noted, and the author notes that evaluating development is a crucial factor in any overall assessment. The author concludes with a number of recommendations for developing good practice in this crucial area of the support process, including: agree on terminology and inclusion criteria; take a transdisciplinary approach; use a developmental model; consider the impact of neurological conditions; select measures and informants carefully; and consider the assessment as an intervention. [source]

Eosinophilic intracytoplasmic inclusions in Purkinje neurons of children

Viktor Zherebitskiy
Eosinophilic intracytoplasmic inclusions have been rarely described in Purkinje neurons of children with a variety of neurological conditions. Here we document these inclusions in five children from 3 to 14 years of age. One child had 7q deletion syndrome and a second had profound motor and cognitive delay ("cerebral palsy") of unknown origin, while three others were neurologically normal prior to death. These inclusions stain with the PAS method, are not strongly ubiquitinated, and are located in the lumen of endoplasmic reticulum. Their appearance in a wide range of disorders and in neurologically normal children suggests that they are a nonspecific protein trafficking anomaly, possibly aggravated under degenerative conditions. [source]

Neurological presentations of conversion disorders in a group of Singapore children

Wan-yee Teo
Abstract Background: Neurological presentations of conversion disorders in children are not uncommon. Conversion disorders mimicking neurological conditions constitute a group of underdiagnosed conditions. Methods: This was a retrospective study of 13 children with neurological presentations of conversion disorders who were admitted to hospital. Patients were followed for 1,4 years. Results: Paralysis was the most common neurological symptom, patients presented with multiple, complex conversion symptoms and other neurological symptoms such as seizures and headache. The affected children underwent complete physical, neurological examination and psychological evaluation. Investigations included blood tests, cranial imaging and electroencephalography. Most common external environmental factors detected were school stress and change in family situation. Five of 13 patients had family members who were reported to have medical conditions with presentations similar to patients' neurological and psychological problem. All the patients were admitted, five patients required multiple admissions. Ten patients eventually had good outcome in terms of academic grades and social functioning. Conclusion: Diagnosis of conversion disorders mimicking neurological conditions can be challenging. There is a need to heighten awareness of this entity for early recognition and diagnosis. Awareness of this entity coupled with a high index of suspicion can facilitate accurate and earlier diagnosis. [source]