Nervous System Diseases

Ankle Foot Orthoses (AFOs) to promote walking ability are a common treatment in patients with neurological or muscular diseases. However, guidelines on the prescription of AFOs are currently based on a low level of evidence regarding their efficacy. Recent studies aiming to demonstrate the efficacy of wearing an AFO in respect to walking ability are not always conclusive. In this paper it is argued to recognize two levels of evidence related to the ICF levels. Activity level evidence expresses the gain in walking ability for the patient, while mechanical evidence expresses the correct functioning of the AFO. Used in combination for the purpose of evaluating the efficacy of orthotic treatment, a conjunct improvement at both levels reinforces the treatment algorithm that is used. Conversely, conflicting outcomes will challenge current treatment algorithms and the supposed working mechanism of the AFO. A treatment algorithm must use relevant information as an input, derived from measur...

Jaw-winking or the Marcus Gunn phenomenon (MGP), a congenital uncommon condition characterized by involuntary elevation of a drooping upper eyelid concomitant with various movements of the mandible, is well-documented in medical literature, but very little information is available in dental literature. This is an interesting case report of a 17-year-old female with MGP, who reported for orthodontic treatment of her proclined upper anterior teeth, severe lower crowding, and mandibular micrognathia. Review of the literature revealed only two reported cases of dental anomalies in conjunction with MGP. The patient also gave a positive family history of MGP with a maternal cousin having a similar problem. Dentists and other oral health professionals can play a significant role in detection and diagnosis of this rare condition and should take protective measures during dental and oral surgical procedures.

The aim of the study was the functional neurodevelopmental assessment of children with posterior fossa tumors, specifically examining whether tumor location in particular cerebellar structures determines particular neuropsychological deficits. The examined group consisted of 34 children treated between 1999 and 2007 at the Division of Pediatric Neurosurgery Silesian University Medical School in Katowice, Poland. Twelve girls and 22 boys between 5 and 21 years of age were examined. The mean age was 12.3 years. There were 21 total and 8 subtotal resections of tumor, and marsupialization was performed in cases of arachnoid cysts. Hydrocephalus in 19 patients was fixed surgically. Histopathological diagnoses of tumors were as follows: 4 medulloblastomas, 8 pilocytic astrocytomas, 6 fibrillary astrocytomas, 1 anaplastic astrocytoma, 2 oligodendrogliomas, 4 anaplastic ependymomas, 1 choroid plexus papilloma, and 5 arachnoid cysts. The children were assessed by age-appropriate tests that examine higher mental functions such as cognitive processes, visual–spatial functions, verbal fluency, planning, sequential memory, and emotions. Additionally, speech examination and tests were performed. The clinical state of all patients was also evaluated, including a full neurological examination. Posterior fossa tumors can disturb normal development of higher mental functions, especially in the development of linguistic and emotional traits. Our study aimed to better understand the functional anatomy of the cerebellum in the context of behavioral changes. Exploration of the consequences of damage to posterior fossa structures may lead to a better understanding of their function in the emotional and cognitive development of children. Moreover, this work may enable the prediction of neurobehavioral disorders and offer appropriate strategies for rehabilitation, qualification, and surgical procedures.

Griscelli syndrome (GS) is caused by mutations in the MYO5A (GS1), RAB27A (GS2), or MLPH (GS3) genes, all of which lead to a similar pigmentary dilution. In addition, GS1 patients show primary neurological impairment, whereas GS2 patients present immunodeficiency and periods of lymphocyte proliferation and activation, leading to their infiltration in many organs, such as the nervous system, causing secondary neurological damage. We report the diagnosis of GS2 in a 4-year-old child with haemophagocytic syndrome, immunodeficiency, and secondary neurological disorders. Typical melanosome accumulation was found in skin melanocytes and pigment clumps were observed in hair shafts. Two heterozygous mutant alleles of the RAB27A gene were found, a C-T transition (C352T) that leads to Q118stop and a G-C transversion on the exon 5 splicing donor site (G467+1C). Functional assays showed increased cellular activation and decreased cytotoxic activity of NK and CD8+ T cells, associated with defective lytic granules release. Myosin-Va expression and localization in the patient lymphocytes were also analyzed. Most importantly, we show that cytotoxic activity of the patient's CD8+ T lymphocytes can be rescued in vitro by RAB27A gene transfer mediated by a recombinant retroviral vector, a first step towards a potential treatment of the acute phase of GS2 by RAB27A transduced lymphocytes.

We studied the incidence and prognosis of acute neurologic complications in 281 children under 13 years of age with a diagnosis of acute bacterial meningitis. All the patients were examined daily by the same group of neurologists, using a standardized neurological examination. Patients with signs of encephalic lesions, unsatisfactory response to antibiotics or decreased level of consciousness were submitted to brain computer tomography. The overall lethality rate was 20.3% and cases whose causative agent was identified presented a higher lethality rate (23.7%) than those in which the agent was not found. The most important neurological abnormalities were meningeal signs (88.3%) followed by decreased consciousness (47.7%), irritability (35.2%), seizures (22.4%), fontanel bulging (20.6%) and cranial nerve palsy (14.2%). Seizures, cranial nerve palsy and the absence of meningeal signs were related to higher rates of lethality. Diminished consciousness, seizures, subdural effusion, absc...

The objective of the study was to evaluate perinatal and long-term complications of fetuses with intrauterine growth restriction (IUGR) compared with constitutionally small for gestational age (SGA) ones. The outcome of infants with IUGR and SGA born at the Medical University Graz (Austria) between 2003 and 2009 was retrospectively analyzed. Group assignment was based on birthweight, Doppler ultrasound, and placental morphology. The primary outcome was neurodevelopmental delay at 2 years corrected age. The secondary outcomes were perinatal complications. We included 219 IUGR and 299 SGA infants for perinatal and 146 and 215 for long-term analysis. Fetuses with IUGR were delivered earlier (35 vs 38 weeks) and had higher rates of mortality (8% vs 1%; odds ratio [OR], 8.3) as well as perinatal complications (24.4% vs 1.0%; OR, 31.6). The long-term outcome was affected by increased risk for neurodevelopmental impairment (24.7% vs 5.6%; OR, 5.5) and growth delay (21.2% vs 7.4%; OR, 3.4). IUGR infants are subject to an increased risk for adverse short- and long-term outcome compared with SGA children.

Ankle Foot Orthoses (AFOs) to promote walking ability are a common treatment in patients with neurological or muscular diseases. However, guidelines on the prescription of AFOs are currently based on a low level of evidence regarding their efficacy. Recent studies aiming to demonstrate the efficacy of wearing an AFO in respect to walking ability are not always conclusive. In this paper it is argued to recognize two levels of evidence related to the ICF levels. Activity level evidence expresses the gain in walking ability for the patient, while mechanical evidence expresses the correct functioning of the AFO. Used in combination for the purpose of evaluating the efficacy of orthotic treatment, a conjunct improvement at both levels reinforces the treatment algorithm that is used. Conversely, conflicting outcomes will challenge current treatment algorithms and the supposed working mechanism of the AFO. A treatment algorithm must use relevant information as an input, derived from measur...

The aim was to develop a comprehensive screening instrument for evaluation of orofacial dysfunction that was easy to perform for different health professionals without special equipment. The Nordic Orofacial Test--Screening (NOT-S), consisting of a structured interview and clinical examination,was developed with a picture manual illustrating the different tasks in the examination. It was first tested in a Swedish version, and later translated to other Nordic languages, and to English. The interview reflected six domains, (I) Sensory function, (II) Breathing, (III) Habits, (IV) Chewing and swallowing, (V) Drooling, and (VI) Dryness of the mouth, and the examination included six domains representing (1) The face at rest, and tasks regarding (2) Nose breathing, (3) Facial expression, (4) Masticatory muscle and jaw function, (5) Oral motor function, and (6) Speech. One or more "yes" for impairment in a domain resulted in one point (maximum NOT-S score 12 points). The mean NOT-...

Bacterial meningitis is a neurological emergency. Empiric antimicrobial and adjunctive therapy should be initiated as soon as a single set of blood cultures has been obtained. Clinical signs suggestive of bacterial meningitis include fever, headache, meningismus, vomiting, photophobia, and an altered level of consciousness. The peripheral white blood cell count with a left shift, an elevated serum procalcitonin and C-reactive

Robotic guidance has been shown to facilitate motor skill acquisition, through altered sensorimotor control, in neurologically impaired and healthy populations. To determine if robot-guided practice and online visual feedback availability primarily influences movement planning or online control mechanisms. In this two-experiment study, participants first performed a pre-test involving reaches with or without vision, to obtain baseline measures. In both experiments, participants then underwent an acquisition phase where they either actively followed robot-guided trajectories or trained unassisted. Only in the second experiment, robot-guided or unassisted acquisition was performed either with or without online vision. Following acquisition, all participants completed a post-test that was the same as the pre-test. Planning and online control mechanisms were assessed through endpoint error and kinematic analyses. The robot-guided and unassisted groups generally exhibited comparable chan...

In the last three decades a range of non-invasive biophysical techniques have been developed, of which Magnetic Resonance (MR) has proved to be the most versatile. Its non-invasive and safe nature has made it the most important diagnostic and research tool in clinical medicine. MR Spectroscopy (MRS) is the only technique in clinical medicine that provides non-invasive access to living chemistry in situ. This article focuses mainly on proton MRS in brain and also phosphorus MRS in calf muscle, with particular reference to the pediatric population, the normal spectrum and its use in various disease conditions in the practice of pediatric neurology. Few representative case studies among different disease groups have also been detailed.

N-methyl-d-aspartate receptors (NMDARs) are present at many excitatory glutamate synapses in the central nervous system and display unique properties that depend on their subunit composition. Biophysical, pharmacological and molecular methods have been used to determine the key features conferred by the various NMDAR subunits, and have helped to establish which NMDAR subtypes are present at particular synapses. Recent studies are

Children with neurologic impairment often fail medical management of gastroesophageal reflux and proceed to fundoplication and gastrostomy (FG) or percutaneous gastrojejunostomy (GJ). Current guidelines do not recommend one treatment over the other, and there is ongoing uncertainty regarding clinical management. We conducted a structured search of Medline, Embase, trial registries, and the gray literature. We included studies that compared outcomes for FG and GJ in children with neurologic impairment. We identified 556 children from three retrospective studies who underwent FG (n=431) or GJ (n=125). There were no differences in rates of pneumonia (17% vs 19%, p=0.74) or mortality (13% vs 14%, p=0.76). Few deaths were due to procedural complications (1%) or reflux (2%). There was a trend towards more major complications with FG (29%) compared to GJ (12%) (risk ratio=1.70, 0.85-3.41, p=0.14). Minor complications were more common with GJ (70%) than FG (45%), but this difference was als...

ubiquitous presence of cell phones, cell towers, WiFi, smart meters, radio and television transmission towers, and other forms of RF radiation. Questions about the existence of EHS go back to the days of the Cold War and differing concepts related to the effects of RF radiation. In most Western countries, it has been assumed that there are no biological effects of EMFs other than those mediated via tissue heating. In contrast, in Soviet countries, there were many early reports of behavioral effects occurring at much lower intensities than those that cause tissue heating. The symptoms reported included headache, fatigue, difficulty in concentration, depression, emotional instability, and irritability (reviewed by Silverman 6 ). Soviet exposure standards were much more stringent than those in Western countries. Although the reported effects and low exposure standards were discounted by most Western scientists, some researchers such as Frey 7 — as early as 1965—concluded from his own a...

BACKGROUND The demand of occupancy in neurosurgical intensive care unit (NICU) has extremely risen up in King Chulalongkorn Memorial Hospital but the intensive care personnel have not proportionally increased with the demand identifying especially for intensivists. The possible management that may be help to solve this problem is identifying the factors which may be involved in prolonging length of stay (LOS) in ICU and modifying of those risk factors. OBJECTIVE To determine the factors which influenced the LOS in NICU. SETTING Neurosurgical intensive care unit (NICU) in King Chulalongkorn Memorial Hospital which is the tertiary care hospital. RESEARCH DESIGN A retrospective observational study MATERIAL AND METHOD All data of NICU had been gathered over the period of October 1st, 2004 to December 31st, 2004. The patient characteristics; age, gender diagnosis, underlying diseases, and length of NICU stay were recorded. Postoperative events were stratified into 4 groups involving pulm...