Akshoomoff, Natacha; Farid, Nikdokht; Courchesne, Eric; Haas, Richard
This study examined the nature and frequency of neurological and EEG abnormalities in 60 young children (ages 2-6 years) with pervasive developmental disorders. A number of standard neurological functions could not be adequately assessed due to the young age of the children and/or limited comprehension and cooperation. The most common neurological…
Dennison, Sophie; Haulena, Martin; Williams, D Colette; Dawson, John; Yandell, Brian S; Gulland, Frances M D
Sedation in sea lions exhibiting abnormal neurologic signs may require modification of established sedatior protocols because of the likely interaction between effects of the sedative and physiologic changes in diseased animals The effects of two sedative combinations, 0.07 mg/kg medetomidine and 0.07 mg/kg medetomidine plus 0.2 mg/kg butorphanol, were compared between California sea lions (Zalophus californianus) with signs of neurologic dysfunctior (n=33) and without neurologic signs (n=8). Sedation depth was scored on a scale of 0 (no effect) to 4 (profound sedation) assessed by response to auditory, tactile, and visual stimuli at the time of perceived maximal sedative effect In the medetomidine-alone group, sea lions with neurologic signs attained a median sedation score of 4 compared to a median sedation score of 1 in the clinically normal sea lions. Sea lions with and without neurologic signs giver medetomidine-butorphanol attained a median sedation score of 4. No statistically significant difference in time to induction and respiratory rate was found between the two sedation protocols in all sea lions. In the sea lions with neurologic signs, the recovery time from medetomidine-butorphanol sedation was prolonged (P < 0.01) and minimum recorded heart rates, although remaining within normal physiologic limits, were lower (P = 0.02) when compared to the sea lions administered medetomidine alone. Muscle jerks were observed in many animals given medetomidine-butorphanol and were detrimental to the diagnostic quality of the electroencephalogram (EEG) recording. Medetomidine alone at a dose rate of 0.07 mg/kg thus provides adequate and safe sedation in sea lions with neurologic signs undergoing EEG evaluation.
Allin, M; Rooney, M; Griffiths, T; Cuddy, M; Wyatt, J; Rifkin, L; Murray, R
Objective Individuals born before 33 weeks' gestation (very preterm, VPT) have an increased likelihood of neurological abnormality, impaired cognitive function, and reduced academic performance in childhood. It is currently not known whether neurological signs detected in VPT children persist into adulthood or become attenuated by maturation of the CNS. Method We assessed 153 VPT individuals and 71 term‐born controls at 17–18 years old, using a comprehensive neurological examination. This examination divides neurological signs into primary and integrative domains, the former representing the localising signs of classical neurology, and the latter representing signs requiring integration between different neural networks or systems. Integrative signs are sub‐divided into three groups: sensory integration, motor confusion, and sequencing. The VPT individuals have been followed up since birth, and neonatal information is available on them, along with the results of neurological assessment at 4 and 8 years of age and neuropsychological assessment at 18 years of age. Results The total neurology score and primary and integrative scores were significantly increased in VPT young adults compared to term‐born controls. Within the integrative domain, sensory integration and motor confusion scores were significantly increased in the VPT group, but sequencing was not significantly different between the VPT and term groups. Integrative neurological abnormalities at 18 were strongly associated with reduced IQ but primary abnormalities were not. Conclusions Neurological signs are increased in VPT adults compared to term‐born controls, and are strongly associated with reduced neuropsychological function. PMID:16543529
Rubin, Rosalyn A.; Balow, Bruce
In a prospective longitudinal study, 1244 children who had received three neurological examinations in their first year of life were administered measures of cognitive development and academic achievement through age 12. Twenty-two Ss identified as neurologically suspect or abnormal on more than one of the infant examinations consistently…
Boes, Christopher J
The objective of this study was to create an annotated list of textbooks dedicated to teaching the neurologic examination. Monographs focused primarily on the complete neurologic examination published prior to 1960 were reviewed. This analysis was limited to books with the word "examination" in the title, with exceptions for the texts of Robert Wartenberg and Gordon Holmes. Ten manuals met the criteria. Works dedicated primarily to the neurologic examination without a major emphasis on disease description or treatment first appeared in the early 1900s. Georg Monrad-Krohn's "Blue Book of Neurology" ("Blue Bible") was the earliest success. These treatises served the important purpose of educating trainees on proper neurologic examination technique. They could make a reputation and be profitable for the author (Monrad-Krohn), highlight how neurology was practiced at individual institutions (McKendree, Denny-Brown, Holmes, DeJong, Mayo Clinic authors), and honor retiring mentors (Mayo Clinic authors).
The objective of this study was to create an annotated list of textbooks dedicated to teaching the neurologic examination. Monographs focused primarily on the complete neurologic examination published prior to 1960 were reviewed. This analysis was limited to books with the word “examination” in the title, with exceptions for the texts of Robert Wartenberg and Gordon Holmes. Ten manuals met the criteria. Works dedicated primarily to the neurologic examination without a major emphasis on disease description or treatment first appeared in the early 1900s. Georg Monrad-Krohn's “Blue Book of Neurology” (“Blue Bible”) was the earliest success. These treatises served the important purpose of educating trainees on proper neurologic examination technique. They could make a reputation and be profitable for the author (Monrad-Krohn), highlight how neurology was practiced at individual institutions (McKendree, Denny-Brown, Holmes, DeJong, Mayo Clinic authors), and honor retiring mentors (Mayo Clinic authors). PMID:25829645
Johnson, Charles F.; And Others
Examined was the occurrence of congenital and neurological abnormalities in 150 children with phenylketonuria (PKU--a metabolic disorder which may result in mental retardation) age 1 year or older, who have been treated with a restricted phenylalanine diet, according to the protocol used in a nation-wide longitudinal collaborative study.…
O'Connor, K M; Barest, G; Moritani, T; Sakai, O
To review diffusion abnormalities seen in diffusion-weighted MRI in neurological pathologies. We examine the clinical significance of the abnormalities in a broad spectrum of neurological diseases and highlight our current understanding of their causes. Diffusion abnormalities seen on diffusion-weighted MRI can play an important role in the diagnosis and follow-up of a broad spectrum of neurological diseases. A thorough understanding of the appearance and significance of these abnormalities is critical in patient management. PMID:24167185
Popovych, Oleksandr V.; Tass, Peter A.
In the nervous system, synchronization processes play an important role, e.g., in the context of information processing and motor control. However, pathological, excessive synchronization may strongly impair brain function and is a hallmark of several neurological disorders. This focused review addresses the question of how an abnormal neuronal synchronization can specifically be counteracted by invasive and non-invasive brain stimulation as, for instance, by deep brain stimulation for the treatment of Parkinson’s disease, or by acoustic stimulation for the treatment of tinnitus. On the example of coordinated reset (CR) neuromodulation, we illustrate how insights into the dynamics of complex systems contribute to successful model-based approaches, which use methods from synergetics, non-linear dynamics, and statistical physics, for the development of novel therapies for normalization of brain function and synaptic connectivity. Based on the intrinsic multistability of the neuronal populations induced by spike timing-dependent plasticity (STDP), CR neuromodulation utilizes the mutual interdependence between synaptic connectivity and dynamics of the neuronal networks in order to restore more physiological patterns of connectivity via desynchronization of neuronal activity. The very goal is to shift the neuronal population by stimulation from an abnormally coupled and synchronized state to a desynchronized regime with normalized synaptic connectivity, which significantly outlasts the stimulation cessation, so that long-lasting therapeutic effects can be achieved. PMID:25566174
Maruff, P; Burns, C B; Tyler, P; Currie, B J; Currie, J
Substance abuse through the deliberate inhalation of petrol (petrol sniffing or gasoline sniffing) is prevalent in inner-urban and remote rural communities. Although acute toxic encephalopathy is a well-documented consequence of petrol sniffing, the neurological and cognitive effects of chronic petrol sniffing are unknown. A structured neurological examination and the Cambridge Neuropsychological Test Automated Battery (CANTAB) were used to assess neurological and cognitive function in 33 current-sniffers (individuals who had sniffed petrol for >6 months), 30 ex-sniffers (individuals who had sniffed petrol in the past but had abstained for 6 months) and 34 matched non-sniffers (individuals who had never sniffed petrol). No subject was, or had been, encephalopathic from petrol sniffing and all were residing in their community. Blood lead and hydrocarbon levels and information about petrol sniffing behaviour were obtained from each subject. When compared with non-sniffers, current-sniffers showed higher rates of abnormal tandem gait, rapid alternating hand movements, finger to nose movements, postural tremor, bilateral palmomental reflexes and brisk deep reflexes. Cognitive deficits occurred in the areas of visual attention, visual recognition memory and visual paired associate learning. Ex-petrol sniffers showed higher rates of abnormal tandem gait and bilateral palmomental reflexes and cognitive deficits in the areas of visual recognition memory and pattern-location paired associate learning. Blood lead levels and length of time of petrol sniffing correlated significantly with the magnitude of neurological and cognitive deficits. Blood hydrocarbon levels were not related to neurocognitive deficits, although this may have been due to methodological difficulties in obtaining hydrocarbon levels. These results suggest that subtle neurological and cognitive abnormalities do occur in individuals who abuse petrol but who do not have acute toxic encephalopathy and that the
Baslo, A.; Aksoy, M.
Neurological, electromyographical and motor conduction velocity examinations were applied to 6 patients with aplastic anemia and two cases of preleukemia due to chronic exposure to benzene. In addition, sensory conduction velocities were measured in three patients. Neurological abnormalities were found in four out of six pancytopenic individuals. There was a certain relationship between the presence of neurological abnormalities and the period of cessation of the exposure. In the two patients with preleukemia similar neurologic abnormalities were found.
McLatchie, G; Brooks, N; Galbraith, S; Hutchison, J S; Wilson, L; Melville, I; Teasdale, E
Twenty active amateur boxers were studied seeking evidence of neurological dysfunction and, if present, the best method for detecting it. Seven of these boxers had an abnormal clinical neurological examination, eight an abnormal EEG and nine of 15 examined had abnormal neuropsychometry. The CT scan was abnormal in only one. An abnormal clinical examination correlated significantly (p less than 0.05) with an increasing number of fights, and an abnormal EEG with decreasing age (p less than 0.05). In several of the neuropsychometric tests, the boxers were significantly worse than controls (p less than 0.05). Neuropsychometry was the best method for detecting neurological dysfunction.
Maranhão-Filho, Péricles; Vincent, Maurice Borges; Silva, Marcos Martins da
The objective of this article is to highlight some of the most important pioneering books specifically focused on the neurological examination and their authors. During the XIX Century, Alexander Hammond, William Gowers and Charles Mills pioneered the neurological literature, followed in the XX Century by Aloysio de Castro, Monrad-Krohn, Derek Denny-Brown, Robert Wartenberg, Gordon Holmes, and Russel DeJong. With determination and a marked sense of observation and research, they competently developed and spread the technique and art of the neurological exam.
Garcia-Cazorla, A.; Serrano, M.; Perez-Duenas, B.; Gonzalez, V.; Ormazabal, A.; Pineda, M.; Fernandez-Alvarez, E.; Campistol, J. M. D.; Artuch, R. M. D.
Neurotransmitters are essential in young children for differentiation and neuronal growth of the developing nervous system. We aimed to identify possible factors related to secondary neurotransmitter abnormalities in pediatric patients with neurological disorders. We analyzed cerebrospinal fluid (CSF) and biogenic amine metabolites in 56 infants…
Dubowitz, Lilly; Ricciw, Daniela; Mercuri, Eugenio
In an ideal world, each neonate should have a comprehensive neurological examination but in practice this is often difficult. In this review we will describe what a routine neurological evaluation in the full-term neonate should consist of and how the Dubowitz examination is performed. The examination has been used for over 20 years and can be…
Ichihara, Gaku; Li, Weihua; Shibata, Eiji; Ding, Xuncheng; Wang, Hailan; Liang, Yideng; Peng, Simeng; Itohara, Seiichiro; Kamijima, Michihiro; Fan, Qiyuan; Zhang, Yunhui; Zhong, Enhong; Wu, Xiaoyun; Valentine, William M; Takeuchi, Yasuhiro
We reported recently that 1-bromopropane (1-BP; n-propylbromide, CAS Registry no. 106-94-5), an alternative to ozone-depleting solvents, is neurotoxic and exhibits reproductive toxicity in rats. The four most recent case reports suggested possible neurotoxicity of 1-BP in workers. The aim of the present study was to establish the neurologic effects of 1-BP in workers and examine the relationship with exposure levels. We surveyed 27 female workers in a 1-BP production factory and compared 23 of them with 23 age-matched workers in a beer factory as controls. The workers were interviewed and examined by neurologic, electrophysiologic, hematologic, biochemical, neurobehavioral, and postural sway tests. 1-BP exposure levels were estimated with passive samplers. Tests with a tuning fork showed diminished vibration sensation of the foot in 15 workers exposed to 1-BP but in none of the controls. 1-BP factory workers showed significantly longer distal latency in the tibial nerve than did the controls but no significant changes in motor nerve conduction velocity. Workers also displayed lower values in sensory nerve conduction velocity in the sural nerve, backward recalled digits, Benton visual memory test scores, pursuit aiming test scores, and five items of the Profile of Mood States (POMS) test (tension, depression, anxiety, fatigue, and confusion) compared with controls matched for age and education. Workers hired after May 1999, who were exposed to 1-BP only (workers hired before 1999 could have also been exposed to 2-BP), showed similar changes in vibration sense, distal latency, Benton test scores, and depression and fatigue in the POMS test. Time-weighted average exposure levels in the workers were 0.34-49.19 ppm. Exposure to 1-BP could adversely affect peripheral nerves or/and the central nervous system.
Smith, Richard D.; McNamara, John J.
The use of neurological examinations as a method of evaluating learning and behavior problems in students is a controversial issue in the medical field. Various aspects of the examination and its relevance to children with school problems are explored. (DF)
Zhou, Joanne; Butler, Erin E.; Rose, Jessica
Cerebral palsy (CP) is the most common movement disorder in children. A diagnosis of CP is often made based on abnormal muscle tone or posture, a delay in reaching motor milestones, or the presence of gait abnormalities in young children. Neuroimaging of high-risk neonates and of children diagnosed with CP have identified patterns of neurologic injury associated with CP, however, the neural underpinnings of common gait abnormalities remain largely uncharacterized. Here, we review the nature of the brain injury in CP, as well as the neuromuscular deficits and subsequent gait abnormalities common among children with CP. We first discuss brain injury in terms of mechanism, pattern, and time of injury during the prenatal, perinatal, or postnatal period in preterm and term-born children. Second, we outline neuromuscular deficits of CP with a focus on spastic CP, characterized by muscle weakness, shortened muscle-tendon unit, spasticity, and impaired selective motor control, on both a microscopic and functional level. Third, we examine the influence of neuromuscular deficits on gait abnormalities in CP, while considering emerging information on neural correlates of gait abnormalities and the implications for strategic treatment. This review of the neural basis of gait abnormalities in CP discusses what is known about links between the location and extent of brain injury and the type and severity of CP, in relation to the associated neuromuscular deficits, and subsequent gait abnormalities. Targeted treatment opportunities are identified that may improve functional outcomes for children with CP. By providing this context on the neural basis of gait abnormalities in CP, we hope to highlight areas of further research that can reduce the long-term, debilitating effects of CP. PMID:28367118
Alabdali, Majed; Alsulaiman, Abdulla; Albulaihe, Hana; Breiner, Ari; Katzberg, Hans D.; Aljaafari, Danah; Lovblom, Leif E.; Bril, Vera
Introduction Polyneuropathy is one of the most prevalent neurologic disorders. Although several studies explored the role of the neurological examination in polyneuropathy, they were mostly restricted to specific subgroups of patients and have not correlated examination findings with symptoms and electrophysiological results. Objectives To explore the sensitivity and specificity of different neurological examination components in patients with diverse etiologies for polyneuropathy, find the most sensitive combination of examination components for polyneuropathy detection, and correlate examination findings with symptoms and electrophysiological results. Methods Patients with polyneuropathy attending the neuromuscular clinic from 01/2013 to 09/2015 were evaluated. Inclusion criteria included symptomatic polyneuropathy, which was confirmed by electrophysiological studies. 47 subjects with no symptoms or electrophysiological findings suggestive for polyneuropathy, served as controls. Results The total cohort included 312 polyneuropathy patients, with a mean age of 60±14 years. Abnormal examination was found in 95%, most commonly sensory findings (86%). The most common abnormal examination components were impaired ankle reflexes (74%), vibration (73%), and pinprick (72%) sensation. Combining ankle reflex examination with vibration or pinprick perception had the highest sensitivity, of 88%. The specificities of individual examination component were generally high, excluding ankle reflexes (62%), and vibration perception (77%). Abnormal examination findings were correlated with symptomatic weakness and worse electrophysiological parameters. Conclusion The neurological examination is a valid, sensitive and specific tool for diagnosing polyneuropathy, and findings correlate with polyneuropathy severity. Ankle reflex examination combined with either vibration or pinprick sensory testing is the most sensitive combination for diagnosing polyneuropathy, and should be
Colover, Jack; Lucas, Mary; Comley, J. A.; Roe, A. M.
An unusual case of the cri-du-chat syndrome is described in a 6½ year old boy, who, as well as attacks of stridor and choking, showed disorders of spatial perception and cerebellar signs in the form of nystagmus, clumsiness of the hands, and ataxia. Pyramidal signs were also present. He was only mildly retarded mentally. Psychological testing showed that he had a severe deficit for number processing, and also constructional apraxia. Surprisingly, his vocabulary was quite good, as was his reading capacity. Chromosome analysis showed a very small deletion of the short arm of the group B chromosome. In infancy this diagnosis may be suspected because of the high-pitched cry and attacks of stridor and choking. In late childhood, when the signs may be only of a neurological disorder, its recognition may be difficult without confirmation from chromosome studies. The neurological features of this disease are reviewed. Images PMID:5084140
Höliner, Isabella; Haslinger, Vera; Lütschg, Jürg; Müller, Guido; Barbarini, Daniela Seick; Fussenegger, Jörg; Zanier, Ulrike; Saely, Christoph H; Drexel, Heinz; Simma, Burkhard
The aim of this study was to evaluate the prevalence of diabetic peripheral neuropathy in children and adolescents with type 1 diabetes mellitus and examine whether the neurological examination validly diagnoses diabetic peripheral neuropathy as compared with the gold standard of nerve conduction velocity in these patients. Nerve conduction velocity was measured in an unselected consecutive series of patients aged 8-18 years who had been suffering from type 1 diabetes mellitus for at least 1 year. For the neurological examination, neuropathy disability scores and neuropathy sign scores were used. Of the 39 patients, six (15%) had clinically evident diabetic peripheral neuropathy, whereas nerve conduction velocity testing revealed diabetic peripheral neuropathy in 15 (38%) patients. Sensitivity and specificity of the neurological examination for the diagnosis of diabetic peripheral neuropathy were 40% and 100%, respectively. The corresponding positive and negative predictive values were 100% and 72.7%, respectively. This conclusions from this study are that in children and adolescents with type 1 diabetes mellitus, diabetic peripheral neuropathy is highly prevalent, but in the majority of patients it is subclinical. Sensitivity and negative predictive values of the neurological examination are low. Therefore, routine nerve conduction velocity measurement for the assessment of diabetic peripheral neuropathy appears to be warranted in these patients.
Tagawa, A; Ono, S; Shibata, M; Imai, T; Suzuki, M; Shimizu, N
A few patients with an affected CNS involving abnormalities in copper metabolism have been described that do not fit any known nosological entities such as Wilson's disease or Menkes' disease. Three sporadic patients (two men and one woman) were examined with involuntary movements and dysarthria associated with abnormal concentrations of serum copper, serum ceruloplasmin, and urinary copper excretion. The onset of neurological symptoms occurred at the age of 15 to 17 years. The common clinical symptoms were involuntary movements and dysarthria. The involuntary movements included dystonia in the neck, myoclonus in the shoulder, athetosis in the neck, and rapid orobuccal movements. The dysarthria consisted of unclear, slow, and stuttering speech. Two of the three patients did not have dementia. A cousin of the female patient had been diagnosed as having Wilson's disease and had died of liver cirrhosis. Laboratory findings showed a mild reduction in serum copper and ceruloplasmin concentrations, whereas urinary copper excretion was significantly reduced in all three patients. Two of the three patients showed a high signal intensity in the basal ganglia on T2 weighted brain MRI. In conclusion, the unique findings of involuntary movements, dysarthria, and abnormal serum copper and urinary copper concentrations suggest that the three patients may constitute a new clinical entity that is distinct from either Wilson's or Menkes disease. PMID:11723201
Bryant, Shannon A; Rutledge, S Lane
Incontinentia pigmenti is an X-linked neurocutaneous disorder which is often lethal in males. Ectodermal tissues are involved, and affected females often have abnormalities of skin, teeth, hair, eyes, and the central nervous system. Central nervous system involvement ranges from none to multiple strokes, seizures, and mental retardation. Deletions in the nuclear factor kappa beta essential modulator gene at Xq28 are present in 70-80% of patients with incontinentia pigmenti. White matter abnormalities have been reported in females with significant neurologic involvement. This report describes a neurologically intact child with deletion positive incontinentia pigmenti with significant white matter involvement, broadening the scope of this finding in incontinentia pigmenti.
Verghese, Joe; Allali, Gilles; Izzetoglu, Meltem; Wang, Cuiling; Mahoney, Jeannette R.
The posture first hypothesis suggests that under dual-task walking conditions older adults prioritize gait over cognitive task performance. Functional neural confirmation of this hypothesis, however, is lacking. Herein, we determined the functional neural correlates of the posture first hypothesis and hypothesized that the presence of neurological gait abnormalities (NGA) would moderate associations between brain activations, gait and cognitive performance. Using functional near-infrared spectroscopy we assessed changes in oxygenated hemoglobin levels in the pre-frontal cortex (PFC) during normal walk and walk while talk (WWT) conditions in a large cohort of non-demented older adults (n = 236; age = 75.5 ± 6.49 years; female = 51.7 %). NGA were defined as central (due to brain diseases) or peripheral (neuropathic gait) following a standardized neurological examination protocol. Double dissociations between brain activations and behavior emerged as a function of NGA. Higher oxygenation levels during WWT were related to better cognitive performance (estimate = 0.145; p < 0.001) but slower gait velocity (estimate = −6.336, p <0.05) among normals. In contrast, higher oxygenation levels during WWT among individuals with peripheral NGA were associated with worse cognitive performance (estimate = −0.355; p <0.001) but faster gait velocity (estimate = 14.855; p <0.05). Increased activation in the PFC during locomotion may have a compensatory function that is designed to support gait among individuals with peripheral NGA. PMID:26613725
Mercuri, E.; Dubowitz, L.; Brown, S. P.; Cowan, F.
AIM—To evaluate cranial ultrasonography and neurological examination in a cohort of infants regarded as normal; and to determine the prevalence of ultrasound abnormalities and any potential association with antenatal or perinatal factors or deviant neurological signs. METHODS—Cranial ultrasound findings and neurological status were evaluated in 177 newborns (gestational age 36.3 to 42 weeks), admitted to a postnatal ward directly after birth and regarded as normal by obstetric and paediatric staff. The age of the infants at the time of examination ranged between 6 and 48 hours. Ultrasound abnormalities were present in 35 of the 177 infants studied (20%). Ischaemic lesions, such as periventricular and thalamic densities were the most common finding (8%), followed by haemorrhagic lesions (6%). The possible sequelae of antenatal haemorrhages, such as focal ventricular dilatation or choroid cysts, were present in 6%. Abnormal ultrasound findings were not significantly associated with signs of perinatal distress, such as cardiotocographic abnormalities or passage of meconium. Abnormal ultrasound findings tended to be associated with antenatal problems, although this did not reach significance. Ultrasound abnormalities were strongly associated with deviant patterns on the neurological examination. CONCLUSIONS—These results suggest that ultrasound abnormalities are more common than has been reported up to now. Lesions that could be ischaemic, such as flare densities, are seen even in the absence of any antenatal or perinatal risk factor. PMID:10194988
Kendall, Emily A.; González, Elsa; Espinoza, Iván; Tipismana, Martín; Verdonck, Kristien; Clark, Daniel; Vermund, Sten H.; Gotuzzo, Eduardo
Objective Because human T-cell lymphotropic virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) may occur in some children infected with HTLV-1-infected, we sought to determine the prevalence of neurologic abnormalities and any associations with infective dermatitis in these children. Study design We enrolled 58 children infected with HTLV-1 and 42 uninfected children (ages 3-17) of mothers infected with HTLV-1 in a family study in Lima, Peru. We obtained medical and developmental histories, surveyed current neurologic symptoms, and conducted a standardized neurologic examination without prior knowledge of HTLV-1 status. Results HTLV-1 infection was associated with reported symptoms of lower extremity weakness/fatigue (OR=6.1, CI:0.7–281), lumbar pain (odds ratio [OR] = 1.7, 95% confidence interval [CI]:0.4–8), and paresthesia/dysesthesia (OR=2.6, CI:0.6–15.8). HTLV-1 infection was associated with lower-extremity hyperreflexia (OR=3.1, CI:0.8–14.2), ankle clonus (OR=5.0, CI:1.0–48.3), and extensor plantar reflex (OR undefined; p = 0.2). Among children infected HTLV-1, a history of infective dermatitis was associated with weakness (OR=2.7, CI:0.3–33), lumbar pain (OR=1.3, CI:0.2–8), paresthesia/dysesthesia (OR=2.9, CI:0.5–20), and urinary disturbances (OR=5.7, CI:0.5–290). Conclusions Abnormal neurologic findings were common in Peruvian children infected with HTLV-1, and several findings were co-prevalent with infective dermatitis. Pediatricians should monitor children infected with HTLV-1 for neurologic abnormalities. PMID:19628219
Hirjak, Dusan; Wolf, Robert Christian; Koch, Sabine C.; Mehl, Laura; Kelbel, Janna K.; Kubera, Katharina Maria; Traeger, Tanja; Fuchs, Thomas; Thomann, Philipp Arthur
Background: Neurological abnormalities including a variety of subtle deficits such as discrete impairments in sensory integration, motor coordination (MOCO), and sequencing of complex motor acts are frequently found in patients with schizophrenia (SZ) and commonly referred to as neurological soft signs (NSS). Asperger-syndrome (AS) is characterized by sensory-motor difficulties as well. However, the question whether the two disorders share a common or a disease-specific pattern of NSS remains unresolved. Method: A total of 78 age- and education-matched participants [26 patients with recent-onset SZ, 26 individuals with AS, and 26 healthy controls (HC)] were recruited for the study. Analyses of covariance (ANCOVAs), with age, years of education, and medication included as covariates, were used to examine group differences on total NSS and the five subscale scores. Discriminant analyses were employed to identify the NSS subscales that maximally discriminate between the three groups. Results: Significant differences among the three groups were found in NSS total score and on the five NSS subscales. The clinical groups differed significantly in the NSS subscale MOCO. The correct discriminant rate between patients with SZ and individuals with AS was 61.5%. The correct discriminant rate was 92.3% between individuals with AS and HC, and 80.8% between SZ patients and HC, respectively. Conclusion: Our findings provide new evidence for the presence of NSS in AS and lend further support to previously reported difficulties in movement control in this disorder. According to the present results, SZ and AS seem to be characterized by both quantitative and qualitative NSS expression. PMID:25147527
Lei, Susan Y; Hache, Manon; Loepke, Andreas W
General anesthetics mitigate distress and exaggerated hemodynamic responses to pain and stressful stimulation, allowing surgery and diagnostic procedures to be performed worldwide in millions of children every year. Emerging studies, mainly carried out in early postnatal laboratory animals, demonstrate widespread neuronal elimination, alteration in neuronal circuitry, and long-term neurological disabilities following exposure to all commonly used sedatives and anesthetics. These findings have raised concerns among parents, anesthesiologists, neuroscientists, and government regulators about the safety of anesthetic drugs in children, especially infants. Accumulating evidence from epidemiological studies suggests an association between surgery with anesthesia in early childhood and subsequent behavioral and cognitive abnormalities. During the Fourth Pediatric Anesthesia NeuroDevelopmental Assessment (PANDA) symposium, a meeting attended by many stakeholders, the most recent findings in the field were presented and discussed. This review summarizes the current state of clinical research into the effects of anesthetic exposure in human brain development, addresses some of the difficulties in examining the phenomenon, and introduces the most recent clinical findings presented at the PANDA symposium. The unanimous consensus among participants was that additional preclinical and clinical research efforts are urgently required to address this important concern for child health.
Nikoskelainen, E K; Marttila, R J; Huoponen, K; Juvonen, V; Lamminen, T; Sonninen, P; Savontaus, M L
Previous studies suggest that Leber's hereditary optic neuropathy (LHON) may be a systemic disorder with manifestations in organs other than the optic nerves. To evaluate nervous system involvement 38 men and eight women with LHON were re-examined. The patients were divided into three groups according to mtDNA analysis--namely, patients with the 11778 or with the 3460 mutation and patients without these primary mutations. Fifty nine per cent of patients had neurological abnormalities but there was no significant difference between the three groups. Movement disorders were the most common finding; nine patients had constant postural tremor, one chronic motor tic disorder, and one parkinsonism with dystonia. Four patients had peripheral neuropathy with no other evident cause. Two patients had a multiple sclerosis-like syndrome; in both patients MRI showed changes in the periventricular white matter. Thoracic kyphosis occurred in seven patients, five of whom had the 3460 mutation. In one patient the 3460 mutation was associated with involvement of the brain stem. It is suggested that various movement disorders, multiple sclerosis-like illness, and deformities of the vertebral column may associate pathogenetically with LHON. Images PMID:7629530
Hadders-Algra, Mijna; Heineman, Kirsten R.; Bos, Arend F.; Middelburg, Karin J.
Aim: Little is known of minor neurological dysfunction (MND) in infancy. This study aimed to evaluate the inter-assessor reliability of the assessment of MND with the Touwen Infant Neurological Examination (TINE) and the construct and predictive validity of MND in infancy. Method: Inter-assessor agreement was determined in a sample of 40 infants…
Wong, Victoria S S
Despite remarkable growth in the clinical neurology literature, there is little research on peer review and biomedical publication in neurology. Biomedical publication research encompasses every step of the research process, from the methodology to the publication of research findings. Some general medical journals have served as leaders in improving scientific publication. Many medical fields have taken it upon themselves to characterize journals and peer reviewers within their own fields. Not all of these data can be applied to the clinical neurology literature; research methodologies, article types, and the journals themselves are unique to every medical field. This article reviews current publication research in the neurology literature and concludes that, to sustain and improve upon the integrity of clinical neurology research, further study is needed of the journals and the peer review process in neurology. Otherwise, the value of clinical research findings and patient care guidelines will be diminished.
Pauker, Jerome D.
The relationship between the ratings students assigned to an evening undergraduate abnormal psychology class and their scores on objective personality tests and course examinations was investigated. Students (N=70) completed the MMPI and made global ratings of the course; these scores were correlated separately by sex with the T scores of 13 MMPI…
Glasscock, Edward; Tanouye, Mark A.
RNA-binding proteins play critical roles in regulation of gene expression, and impairment can have severe phenotypic consequences on nervous system function. We report here the discovery of several complex neurological phenotypes associated with mutations of couch potato (cpo), which encodes a Drosophila RNA-binding protein. We show that mutation of cpo leads to bang-sensitive paralysis, seizure susceptibility, and synaptic transmission defects. A new cpo allele called cpoEG1 was identified on the basis of a bang-sensitive paralytic mutant phenotype in a sensitized genetic background (sda/+). In heteroallelic combinations with other cpo alleles, cpoEG1 shows an incompletely penetrant bang-sensitive phenotype with ∼30% of flies becoming paralyzed. In response to electroconvulsive shock, heteroallelic combinations with cpoEG1 exhibit seizure thresholds less than half that of wild-type flies. Finally, cpo flies display several neurocircuit abnormalities in the giant fiber (GF) system. The TTM muscles of cpo mutants exhibit long latency responses coupled with decreased following frequency. DLM muscles in cpo mutants show drastic reductions in following frequency despite exhibiting normal latency relationships. The labile sites appear to be the electrochemical GF-TTMn synapse and the chemical PSI-DLMn synapses. These complex neurological phenotypes of cpo mutants support an important role for cpo in regulating proper nervous system function, including seizure susceptibility. PMID:15687283
Zhang, Jian-Hua; Pandey, Mritunjay; Seigneur, Erica M.; Panicker, Leelamma M.; Koo, Lily; Schwartz, Owen M.; Chen, Weiping; Chen, Ching-Kang; Simonds, William F.
Gβ5 is a divergent member of the signal-transducing G protein β subunit family encoded by GNB5 and expressed principally in brain and neuronal tissue. Among heterotrimeric Gβ isoforms, Gβ5 is unique in its ability to heterodimerize with members of the R7 subfamily of the regulator of G protein signaling (RGS) proteins that contain G protein-γ like domains. Previous studies employing Gnb5 knockout (KO) mice have shown that Gβ5 is an essential stabilizer of such RGS proteins and regulates the deactivation of retinal phototransduction and the proper functioning of retinal bipolar cells. However, little is known of the function of Gβ5 in the brain outside the visual system. We show here that mice lacking Gβ5 have a markedly abnormal neurologic phenotype that includes impaired development, tiptoe-walking, motor learning and coordination deficiencies, and hyperactivity. We further show that Gβ5-deficient mice have abnormalities of neuronal development in cerebellum and hippocampus. We find that the expression of both mRNA and protein from multiple neuronal genes is dysregulated in Gnb5 KO mice. Taken together with previous observations from Gnb5 KO mice, our findings suggest a model in which Gβ5 regulates dendritic arborization and/or synapse formation during development, in part by effects on gene expression. PMID:21883221
van Kuilenburg, André B P; Meinsma, Rutger; Beke, Eva; Assmann, Birgit; Ribes, Antonia; Lorente, Isabel; Busch, Rebekka; Mayatepek, Ertan; Abeling, Nico G G M; van Cruchten, Arno; Stroomer, Alida E M; van Lenthe, Henk; Zoetekouw, Lida; Kulik, Willem; Hoffmann, Georg F; Voit, Thomas; Wevers, Ron A; Rutsch, Frank; van Gennip, Albert H
beta-Ureidopropionase deficiency is an inborn error of the pyrimidine degradation pathway, affecting the cleavage of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid. In this study, we report the elucidation of the genetic basis underlying a beta-ureidopropionase deficiency in four patients presenting with neurological abnormalities and strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine. No beta-ureidopropionase activity could be detected in a liver biopsy obtained from one of the patients, which reflected the complete absence of the beta-ureidopropionase protein. Analysis of the beta-ureidopropionase gene (UPB1) of these patients revealed the presence of two splice-site mutations (IVS1-2A>G and IVS8-1G>A) and one missense mutation (A85E). Heterologous expression of the mutant enzyme in Escherichia coli showed that the A85E mutation resulted in a mutant beta-ureidopropionase enzyme without residual activity. Our results demonstrate that the N-carbamyl-beta-amino aciduria in these patients is due to a deficiency of beta-ureidopropionase, which is caused by mutations in the UPB1 gene. Furthermore, an altered homeostasis of beta-aminoisobutyric acid and/or increased oxidative stress might contribute to some of the clinical abnormalities encountered in patients with a beta-ureidopropionase deficiency. An analysis of the presence of the two splice site mutations and the missense mutation in 95 controls identified one individual who proved to be heterozygous for the IVS8-1G>A mutation. Thus, a beta-ureidopropionase deficiency might not be as rare as is generally considered.
Maher, Ann Butler
Neurological system assessment is an important skill for the orthopaedic nurse because the nervous system has such an overlap with the musculoskeletal system. Nurses whose scope of practice includes such advanced evaluation, e.g. nurse practitioners, may conduct the examination described here but the information will also be useful for nurses caring for patients who have abnormal neurological assessment findings. Within the context of orthopaedic physical assessment, possible neurological findings are evaluated as they complement the patient's history and the examiner's findings. Specific neurological assessment is integral to diagnosis of some orthopaedic conditions such as carpal tunnel syndrome. In other situations such as crushing injury to the extremities, there is high risk of associated neurological or neurovascular injury. These patients need anticipatory examination and monitoring to prevent complications. This article describes a basic neurological assessment; emphasis is on sensory and motor findings that may overlap with an orthopaedic presentation. The orthopaedic nurse may incorporate all the testing covered here or choose those parts that further elucidate specific diagnostic questions suggested by the patient's history, general evaluation and focused musculoskeletal examination. Abnormal findings help to suggest further testing, consultation with colleagues or referral to a specialist.
Moriwaki, Shinichi; Takigawa, Masahiro; Igarashi, Naoya; Nagai, Yayoi; Amano, Hiroo; Ishikawa, Osamu; Khan, Sikandar G; Kraemer, Kenneth H
We describe an unusual xeroderma pigmentosum (XP) patient with a mutation in XP complementation group G, representing only the third reported Japanese XP-G patient. A 40-year-old men (XP3HM), born from consanguineous parents experienced sun sensitivity and pigmentary changes of sun-exposed skin since childhood. He developed a squamous cell carcinoma on his lower lip at the age of 40. He has neither neurological abnormalities nor Cockayne syndrome. The primary fibroblasts of the patient were hypersensitive to killing by UV (D(0) = 0.6 J/m(2)) and the post-UV unscheduled DNA synthesis was 8% of normal. Host cell reactivation complementation analysis implicated XP complementation group G. We identified a novel homozygous mutation (c.194T>C) in a conserved portion of the XPG(ERCC5) gene, resulting in a predicted amino acid change; p.L65P. We confirmed that this genetic change reduced DNA repair thus linking this mutation to increased skin cancer.
Casson, Ira R.; Viano, David C.; Haacke, E. Mark; Kou, Zhifeng; LeStrange, Danielle G.
Background: Neuropathology and surveys of retired National Football League (NFL) players suggest that chronic brain damage is a frequent result of a career in football. There is limited information on the neurological statuses of living retired players. This study aimed to fill the gap in knowledge by conducting in-depth neurological examinations of 30- to 60-year-old retired NFL players. Hypothesis: In-depth neurological examinations of 30- to 60-year-old retired players are unlikely to detect objective clinical abnormalities in the majority of subjects. Study Design: A day-long medical examination was conducted on 45 retired NFL players, including state-of-the-art magnetic resonance imaging (MRI; susceptibility weighted imaging [SWI], diffusion tensor imaging [DTI]), comprehensive neuropsychological and neurological examinations, interviews, blood tests, and APOE (apolipoprotein E) genotyping. Level of Evidence: Level 3. Methods: Participants’ histories focused on neurological and depression symptoms, exposure to football, and other factors that could affect brain function. The neurological examination included Mini-Mental State Examination (MMSE) evaluation of cognitive function and a comprehensive search for signs of dysarthria, pyramidal system dysfunction, extrapyramidal system dysfunction, and cerebellar dysfunction. The Beck Depression Inventory (BDI) and Patient Health Questionnaire (PHQ) measured depression. Neuropsychological tests included pen-and-paper and ImPACT evaluation of cognitive function. Anatomical examination SWI and DTI MRI searched for brain injuries. The results were statistically analyzed for associations with markers of exposure to football and related factors, such as body mass index (BMI), ethanol use, and APOE4 status. Results: The retired players’ ages averaged 45.6 ± 8.9 years (range, 30-60 years), and they had 6.8 ± 3.2 years (maximum, 14 years) of NFL play. They reported 6.9 ± 6.2 concussions (maximum, 25) in the NFL. The
de Leon, Jose
Forgetting history, which frequently repeats itself, is a mistake. In General Psychopathology, Jaspers criticised early 20th century psychiatrists, including those who thought psychiatry was only neurology (Wernicke) or only abnormal psychology (Freud), or who did not see the limitations of the medical model in psychiatry (Kraepelin). Jaspers proposed that some psychiatric disorders follow the medical model (Group I), while others are variations of normality (Group III), or comprise schizophrenia and severe mood disorders (Group II). In the early 21st century, the players' names have changed but the game remains the same. The US NIMH is reprising both Wernicke's brain mythology and Kraepelin's marketing promises. The neo-Kraepelinian revolution started at Washington University, became pre-eminent through the DSM-III developed by Spitzer, but reached a dead end with the DSM-5. McHugh, who described four perspectives in psychiatry, is the leading contemporary representative of the Jaspersian diagnostic approach. Other neo-Jaspersians are: Berrios, Wiggins and Schwartz, Ghaemi, Stanghellini, Parnas and Sass. Can psychiatry learn from its mistakes? The current psychiatric language, organised at its three levels, symptoms, syndromes, and disorders, was developed in the 19th century but is obsolete for the 21st century. Scientific advances in Jaspers' Group III disorders require collaborating with researchers in the social and psychological sciences. Jaspers' Group II disorders, redefined by the author as schizophrenia, catatonic syndromes, and severe mood disorders, are the core of psychiatry. Scientific advancement in them is not easy because we are not sure how to delineate between and within them correctly.
Spader, Heather S.; Grossberg, Jonathon A.; Haas, Richard A.; Soares, Gregory M.
The basic neurologic history and exam for the interventional radiologist performing intracranial procedures need not be exhaustive and will not supplant that by neurologic specialist. It should include a pertinent history, focused neurologic exam, and a brief physical exam. The interventional radiologist should be familiar with the grading scales commonly used for patients with intracranial pathology to understand the severity and prognosis of various pathologies. The goal of the examination is to mitigate risk, direct the evaluation, aid in medical decision making, and allow the establishment of an appropriate physician-patient relationship. PMID:24436545
Denckla, Martha Bridge; And Others
Most of 32 learning disabled children (seven to 14 years old) with neurological lateralization characteristics marked by right and left hemispheres had a normal CT (computerized tomography) scan. (CL)
Jepsen, Jørgen Riis
Seventy-five percent of upper limb disorders that are related to work are regarded as diagnostically unclassifiable and therefore challenging to the clinician. Therefore it has been generally less successfully to prevent and treat these common and frequently disabling disorders. To reach a diagnosis requires the identification of the responsible pathology and the involved tissues and structures. Consequently, improved diagnostic approaches are needed. This editorial discusses the potentials of using the clinical neurologic examination in patients with upper limb complaints related to work. It is argued that a simple but systematic physical approach permits the examiner to frequently identify patterns of neurological findings that suggest nerve afflictions and their locations, and that electrophysiological studies are less likely to identify pathology. A diagnostic algorithm for the physical assessment is provided to assist the clinician. Failure to include representative neurological items in the physical examination may result in patients being misinterpreted, misdiagnosed and mistreated.
Appleton, Jason Philip; Ilinca, Andreea; Lindgren, Arne; Puschmann, Andreas; Hbahbih, Majed; A Siddiqui, Khurram; de Silva, Rajith; Jones, Matthew; Butterworth, Richard; Willmot, Mark; Hayton, Tom; Lunn, Michael; Nicholl, David
We aimed to establish whether recall of elements of the neurological examination can be improved by use of a simple patient assessment score. In a previous study we demonstrated that in-patients referred to neurology at two United Kingdom (UK) hospitals were not fully examined prior to referral; we therefore designed a larger quality improvement report with 80% power to detect a 10% increase in tendon hammer or ophthalmoscope use following an educational intervention. In-patients referred to neurology over a four month period (in hospitals in the UK (10), Jordan (1), Sweden (2), and the United Arab Emirates (1)) were asked whether they recalled being examined with a tendon hammer (T), ophthalmoscope (O), and stethoscope (S) since admission. The results were disseminated to local medical teams using various techniques (including Grand Round presentations, email, posters, discounted equipment). Data were then collected for a further four month period post-intervention. Pre-intervention and post-intervention data were available for 11 centres with 407 & 391 patients in each arm respectively. Median age of patients was 51 (range 13-100) and 49 (range 16-95) years respectively, with 44.72% and 44.76% being male in each group. 264 patients (64.86%) recalled being examined with a tendon hammer in the pre-intervention arm, which significantly improved to 298 (76.21%) (p<0.001). Only 119 patients (29.24%) recollected examination with an ophthalmoscope pre-intervention, which significantly improved to 149 (38.11%)(p=0.009). The majority of patients (321 (78.87%)) pre-intervention recalled examination with a stethoscope, which significantly improved to 330 (84.4%) to a lesser extent (p=0.045). Results indicate that most patients are not fully examined prior to neurology referral yet a simple assessment score and educational intervention can improve recall of elements of the neurological examination and thus the likelihood of patients being examined neurologically. This is the
Curto, R; Voit, E O; Cascante, M
A modelling approach is used to analyse diseases associated with purine metabolism in man. The specific focus is on deficiencies in two enzymes, hypoxanthine:guanine phosphoribosyltransferase and adenylosuccinate lyase. These deficiencies can lead to a number of symptoms, including neurological dysfunctions and mental retardation. Although the biochemical mechanisms of dysfunctions associated with adenylosuccinate lyase deficiency are not completely understood, there is at least general agreement in the literature about possible causes. Simulations with our model confirm that accumulation of the two substrates of the enzyme can lead to significant biochemical imbalance. In hypoxanthine:guanine phosphoribosyltransferase deficiency the biochemical mechanisms associated with neurological dysfunctions are less clear. Model analyses support some old hypotheses but also suggest new indicators for possible causes of neurological dysfunctions associated with this deficiency. Hypoxanthine:guanine phosphoribosyltransferase deficiency is known to cause hyperuricaemia and gout. We compare the relative importance of this deficiency with other known causes of gout in humans. The analysis suggests that defects in the excretion of uric acid are more consequential than defects in uric acid synthesis such as hypoxanthine:guanine phosphoribosyltransferase deficiency. PMID:9445373
Sakar, Mustafa; Dogrul, Ramazan; Niftaliyev, Seymur; Bayri, Yasar; Dagcınar, Adnan
Stab wound injuries to the spinal cord are rare, although they commonly cause complete or incomplete neurological deficits. Normal neurological examination with a knife traversing the spinal canal is extremely rare. Here we report on a patient with a knife lodged in the thoracic spine with normal neurological examination and describe direct withdrawal of the knife with excellent results that have not been reported to date. A 50-year-old male patient was admitted to the emergency service because of his sustaining a stab wound to thoracic 3-4 level due to a knife traversing the spinal canal and still lodged in the vertebral bodies. His neurological examination was normal. The knife was withdrawn in the operating room under general anesthesia without bleeding or cerebrospinal fluid leakage. After withdrawal neurological examination was normal and control magnetic resonance imaging showed no abnormalities. Surgical exploration is suggested for spinal stab wounds if there is a retained body. Some authors recommend exploration even no foreign body is detected. Incomplete or complete cord injuries deserve surgical exploration, but in a patient with normal neurological examination direct withdrawal can be a safe option. Exploration of the wound surgically may have risks associated with enlarging the incision, muscle dissection, enlarging dural tear and bony removal, which may have long-term adverse effects. The operation team must be ready for urgent exploration. Cerebrospinal fluid leakage, excessive bleeding or any neurological deficit after removal must mandate surgical exploration. Long-term close follow-up of the patient has paramount importance for late complications such as infection and pseudomeningocele development.
Peplow, Daniel; Augustine, Sarah
The indigenous Wayana community of Puleowime (Apetina) in Suriname is susceptible to the effects of mercury because they consume large amounts of fish compared to mainstream communities. Small-scale and artisanal gold mining activities occur at numerous sites in eastern and southeastern Suriname placing the Wayana at risk from exposure to mercury released into the environment. A previous community-led risk assessment study showed that the Wayana were at a high lifetime risk of adverse effects from exposure to mercury. Subsequent to this earlier study, the residents of Puleowime requested assistance in a community-led follow-up research project to determine for themselves whether there were health impacts associated with exposure to mercury contamination. Neurotoxic effects consistent with methylmercury exposure were documented in an exposed population through a battery of neurological tests. Although the specific motor and cognitive batteries were not exactly the same, similar associations were observed between neurologic impairment and hair mercury concentrations compared to other studies in the Amazonia region where mean hair mercury levels were in the subacute range.
The Health Care Financing Administration's new examination documentation criteria: minimum auditing standards for the neurologic examination to be used by Medicare and other payors. Report from the American Academy of Neurology Medical Economics and Management Subcommittee.
Nuwer, M R; Sigsbee, B
Medicare recently announced the adoption of minimum documentation criteria for the neurologic examination. These criteria are added to existing standards for the history and medical decision-making. These criteria will be used in compliance audits by Medicare and other payors. Given the current federal initiative to eliminate fraud in the Medicare program, all neurologists need to comply with these standards. These criteria are for documentation only. Neurologic standards of care require a more complex and diverse examination pertinent to the problem(s) under consideration. Further guidance as to the content of a neurologic evaluation is outlined in the article "Practice guidelines: Neurologic evaluation" (Neurology 1990; 40: 871). The level of history and examination required for specific services is defined in the American Medical Association current procedural terminology book. Documentation standards for examination of children are not yet defined.
Brich, Jochen; Rijntjes, Michael
Background: The neurological examination is considered to be complex and contributes to the phenomenon of “neurophobia”. It is traditionally taught in small groups by residents (“traditional concept”), making the learning success partially dependent on the resident’s level of clinical training, didactic education and personal motivation. Aim of this study was to examine the effects of a newly developed concept (“station concept”) for teaching the neurological examination on achieving an improved and more equal transfer of knowledge and practical skills. Methods: A prospective quasi-experimental design was used to compare the traditional concept with the newly developed station concept, in which the teaching content was divided in eight subdivisions (stations) with one resident being assigned to one station. The primary endpoints of the study were the differences in students’ self-assessments of learning success in the different subdomains of the neurological examination, and secondary analyses focused on evaluation results of students and residents. Results: 144 students and 28 residents participated in the traditional concept (summer semester 2012) and 151 students and 28 residents in the station concept (winter semester 2012/13). In the station-concept students’ self-assessment significantly improved in the domains “Motor System”, “Coordination” and “Mental Status” compared to the traditional concept. Students’ evaluation showed significant improvement in five out of eight points. Fifty percent of residents rated the new approach superior to the traditional approach, ten percent as inferior. Conclusion: The station concept improved students’ self-assessed learning success as well as evaluation results while simultaneously achieving high acceptance in residents. PMID:27990473
Jepsen, Jørgen R; Laursen, Lise H; Kreiner, Svend; Larsen, Anders I
Objective: We have previously demonstrated that neurological individual findings and patterns can be reliably assessed in the examination of the upper limb and also that they are related to pain, weakness, and/or numbness/tingling. This study aimed to study further aspects of the construct validity of the neurological examination. Methods: Blinded to patient-characteristics, two examiners assessed the function of 16 muscles, the sensibility in 7 territories, and the nerve-mechanosensitivity at 20 locations in 82 upper limbs. Based on anatomical patterns and pre-designed algorithms, one or both examiners rated neuropathy as “possible” or “definite” in 40 limbs and also determined the location( s). We developed and tested hypotheses on anatomically and regionally related locations of nerve afflictions (a selective vulnerability of neurons, double and multiple crush, and a tendency to regional spread) and examined the stability of the internal structure of the constructs in different situations. The interrelations of findings were analyzed by hypothesis testing and factor analyses, and the homogeneity of location profiles was analyzed by a conditional likelihood test. Results: Out of 30 limbs with related locations of neuropathy, the findings of each examiner correlated positively (gamma > 0.35) in 22/25, respectively. The patterns of the interrelations identified by the two examiners were similar, with no evidence of any heterogeneity of location profiles for either examiner. Conclusions: This study supports the validity of the physical examination. However, feasibility of its application requires the demonstration of further aspects of construct validity and a favorable influence on patient-management and/or prevention. PMID:20148172
Heekin, R. David; Catalano, Maria C.; Frontera, Alfred T.; Catalano, Glenn
Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is an autoimmune disorder characterized by IgG autoantibodies directed against the NR1 subunit of the NMDA glutamate receptor. Psychiatric symptoms are common and include psychosis, mania, depressed mood, aggression, and speech abnormalities. Neurological symptoms such as seizures, decreased responsiveness, dyskinesias, and other movement abnormalities and/or autonomic instability are frequently seen as well. We present the case of a woman who was followed up at our facility for over 14 years for the treatment of multiple neuropsychiatric symptoms. Initially, she presented with paresthesias, memory loss, and manic symptoms. Nine years later, she presented to our facility again, this time with left sided numbness, left eyelid droop, and word finding difficulties. Finally, five years later, she presented with manic symptoms, hallucinations, and memory impairment. During her hospitalization, she subsequently developed catatonic symptoms and seizures. During her stay, it was discovered that she was positive for anti-NMDA receptor antibodies and her symptoms responded well to appropriate therapy. This case demonstrates that it may be useful for clinicians to consider screening for anti-NMDA receptor antibodies in long-term patients with neuropsychiatric symptoms that have not adequately responded to therapy. PMID:26199781
. henselae represents an antecedent infection for GBS, CIDP, and non-specific neurocognitive abnormalities. PMID:23587343
Delaney, Kathleen A
Vertigo is caused by disturbance of the input or central processing of sensory signals from the vestibular apparatus that provide information regarding the position of the body in space. It is caused either by asymmetric disruption of sensory input from the vestibular organs or asymmetric integration of vestibular input into the central nervous system. Vertigo is readily differentiated from other causes of dizziness by a sensation of motion. A crucial aspect of the management of the emergency department patient with vertigo is the differentiation of vertigo associated with acute stroke syndromes from vertigo due to peripheral causes. Routine computerized axial tomography imaging is insensitive for posterior circulation strokes, so for emergency physicians, the history and neurological examination remain the most useful diagnostic tools. This article emphasizes the history and physical examination in the localization of the lesion in patients with vertigo and offers a rational basis for decisions regarding the need for special neurological imaging and consultation. It also emphasizes subtle findings that may prevent the erroneous diagnosis of peripheral vertigo in the presence of an acute stroke syndrome.
Kunesch, E; Reiners, K; Müller-Mattheis, V; Strohmeyer, T; Ackermann, R; Freund, H J
Thirty men who presented with erectile impotence to the urological department underwent a thorough urological, angiological, and neurological examination with complementary neurophysiological tests of somatosensory and sympathetic and parasympathetic function. Most had vascular and neurological abnormalities. Clinical findings and electrophysiological tests for autonomic dysfunction had the highest yield of abnormal results. Nerve conduction studies and pudendal nerve somatosensory evoked potentials were far less informative. The lack of correlation between vascular and general neurological abnormalities emphasises that patients must be screened for both vascular and neurological dysfunction to prevent unrewarding vascular operation in impotent men. PMID:1316429
McElhinney, Doff B; Straka, Michele; Goldmuntz, Elizabeth; Zackai, Elaine H
Congenital heart disease is present in 40-50% of individuals with Down syndrome. Although cardiovascular evaluation is a standard component of the diagnostic work-up in patients with Down syndrome, the value of routine neonatal echocardiography in this population is debated. We studied 114 neonates with Down syndrome who underwent both cardiac physical examination and echocardiography in the neonatal period to assess the accuracy of physical examination for identifying cardiovascular anomalies in this population. We retrospectively reviewed physical examination records and echocardiogram reports in 114 neonates with Down syndrome and trisomy 21. A patient was considered to have an abnormal cardiac physical examination if there was a pathologic cardiac murmur and/or cyanosis or an abnormal systemic arterial oxygen saturation. The median age at the time of physical examination was 2 days (1-30 days). Physical examination findings suggestive of cardiovascular pathology were noted in 77 patients (68%), with an abnormal cardiac murmur in 34 (30%), cyanosis and/or a pulse oximeter reading of < or = 92% in 35 (31%), and both in 7 (6%). The echocardiogram was abnormal in 75 patients (66%), with an atrioventricular septal defect in 33, tetralogy of Fallot in 13, both of these anomalies in 2, a ventricular septal defect in 17, a patent ductus arteriosus beyond 7 days of age in 7, and other anomalies in 2. The sensitivity of physical examination findings for detection of cardiovascular anomalies was 80% and the specificity was 56%. The positive predictive value of an abnormal physical examination was 78% and the negative predictive value of a normal physical examination was 59%. Fifteen patients had a normal physical examination but an abnormal echocardiogram, nine of whom eventually required surgery. Physical examination alone is not sufficient to identify cardiovascular anomalies in neonates with Down syndrome. In the newborn with Down syndrome, the potential benefits of
Rubio-Cabezas, Oscar; Minton, Jayne A.L.; Kantor, Iren; Williams, Denise; Ellard, Sian; Hattersley, Andrew T.
OBJECTIVE NEUROD1 is expressed in both developing and mature β-cells. Studies in mice suggest that this basic helix-loop-helix transcription factor is critical in the development of endocrine cell lineage. Heterozygous mutations have previously been identified as a rare cause of maturity-onset diabetes of the young (MODY). We aimed to explore the potential contribution of NEUROD1 mutations in patients with permanent neonatal diabetes. RESEARCH DESIGN AND METHODS We sequenced the NEUROD1 gene in 44 unrelated patients with permanent neonatal diabetes of unknown genetic etiology. RESULTS Two homozygous mutations in NEUROD1 (c.427_ 428del and c.364dupG) were identified in two patients. Both mutations introduced a frameshift that would be predicted to generate a truncated protein completely lacking the activating domain. Both patients had permanent diabetes diagnosed in the first 2 months of life with no evidence of exocrine pancreatic dysfunction and a morphologically normal pancreas on abdominal imaging. In addition to diabetes, they had learning difficulties, severe cerebellar hypoplasia, profound sensorineural deafness, and visual impairment due to severe myopia and retinal dystrophy. CONCLUSIONS We describe a novel clinical syndrome that results from homozygous loss of function mutations in NEUROD1. It is characterized by permanent neonatal diabetes and a consistent pattern of neurological abnormalities including cerebellar hypoplasia, learning difficulties, sensorineural deafness, and visual impairment. This syndrome highlights the critical role of NEUROD1 in both the development of the endocrine pancreas and the central nervous system in humans. PMID:20573748
Sikdar, Arindam; Behera, Santosh Kumar; Dogra, Debi Prosad; Bhaskar, Harish
In this paper, we propose a method for detecting variations in the Pulse Rate (PR) of infants undergoing the Hammersmith Infant Neurological Examinations (HINE) using video data. As in every other medical examination the measurement of the PR is critical to underpin the physiological state of living beings. During HINE, measuring the infant's PR is important as its variations against physical conditions, age and other factors must be studied and correlated against developmental scores. However, this becomes highly complicated with active infants where their movements often lead to inconsistent PR estimation. We propose the use of a non-linear dimensionality reduction technique, called Laplacian Eigenmap (LE), to uncover the pulse information encapsulated within the high dimensional visual manifold characterized by normalized RGB feature vectors. Furthermore, low-level image filtering is applied to accurately detect PR within a chosen region-of-interest (ROI) from different parts of the infant's body. For validation and analysis, a set of 14 video sequences of infants undergoing five important tests of HINE have been chosen. Experimental results suggest that a bi-parametrized combination of color features from the RG and GB channels provide more valuable information in comparison to the RB and RGB channels. Results have demonstrated that this contactless method of PR detection has promising prospects for its future use in other clinical examinations of infants.
Sterling, Patricia J.; Sterling, Harold M.
The relationship between neurological examinations and scores on the Quick Neurological Screening Test (QNST) was analyzed for 353 undifferentiated students in the general population and 204 students with known or suspected learning problems. No S shown to have a clearly abnormal neurological examination received a low score on the QNST. (CL)
Baumgart, Leigh A.; Gerling, Gregory J.; Bass, Ellen J.
Background Although the digital rectal exam (DRE) is a common method of screening for prostate cancer and other abnormalities, the limits of ability to perform this hands-on exam are unknown. Perceptible limits are a function of the size, depth, and hardness of abnormalities within a given prostate stiffness. Methods To better understand the perceptible limits of the DRE, we conducted a psychophysical study with 18 participants using a custom-built apparatus to simulate prostate tissue and abnormalities of varying size, depth, and hardness. Utilizing a modified version of the psychophysical method of constant stimuli, we uncovered thresholds of absolute detection and variance in ability between examiners. Results Within silicone-elastomers that mimic normal prostate tissue (21 kPa), abnormalities of 4 mm diameter (20 mm3 volume) and greater were consistently detectable (above 75% of the time) but only at a depth of 5 mm. Abnormalities located in simulated tissue of greater stiffness (82 kPa) had to be twice that volume (5 mm diameter,40 mm3 volume) to be detectable at the same rate. Conclusions This study finds that the size and depth of abnormalities most influence detectability, while the relative stiffness between abnormalities and substrate also affects detectability for some size/depth combinations. While limits identified here are obtained for idealized substrates, this work is useful for informing the development of training and allowing clinicians to set expectations on performance. PMID:20061202
Ferrin, Maite; Vance, Alasdair
Background: Neurological subtle signs (NSS) are minor neurological abnormalities that have been shown to be increased in a number of neurodevelopmental conditions. For attention deficit/hyperactivity disorder (ADHD), it remains unclear whether NSS may aid the clinical diagnostic process. Methods: This study explored the association of total and…
Ozer, Mark N.; Deem, Michael A.
A neurological examination has been developed to discover children with physiologically based learning problems who do not manifest asymmetrical functioning. This study attempts to determine the validity of this examination by its accuracy in predicting the performance of children in a summer Head Start program. Validity was determined by…
Lavely, James A
The neurologic examination in the puppy or kitten can be a challenging experience. Understanding the development of behavior reflexes and movement in puppies and kittens enables us to overcome some of these challenges and to recognize the neurologically abnormal patient. Subsequently,we can identify the neuroanatomic localization and generate a differential diagnosis list. This article first reviews the pediatric neurologic examination and then discusses diseases unique to these individuals.
Bouwes, Aline; Binnekade, Jan M; Verbaan, Bart W; Zandbergen, Eveline G J; Koelman, Johannes H T M; Weinstein, Henry C; Hijdra, Albert; Horn, Janneke
Bilateral absence of cortical N20 responses of median nerve somatosensory evoked potentials (SEP) predicts poor neurological outcome in postanoxic coma after cardiopulmonary resuscitation (CPR). Although SEP is easy to perform and available in most hospitals, it is worthwhile to know how neurological signs are associated with SEP results. The aim of this study was to investigate whether specific clinical neurological signs are associated with either an absent or a present median nerve SEP in patients after CPR. Data from the previously published multicenter prospective cohort study PROPAC (prognosis in postanoxic coma, 2000-2003) were used. Neurological examination, consisting of Glasgow Coma Score (GCS) and brain stem reflexes, and SEP were performed 24, 48, and 72 h after CPR. Positive predictive values for predicting absent and present SEP, as well as diagnostic accuracy were calculated. Data of 407 patients were included. Of the 781 SEPs performed, N20 s were present in 401, bilaterally absent in 299, and 81 SEPs were technically undeterminable. The highest positive predictive values (0.63-0.91) for an absent SEP were found for absent pupillary light responses. The highest positive predictive values (0.71-0.83) for a present SEP were found for motor scores of withdrawal to painful stimuli or better. Multivariate analyses showed a fair diagnostic accuracy (0.78) for neurological examination in predicting an absent or present SEP at 48 or 72 h after CPR. This study shows that neurological examination cannot reliably predict absent or present cortical N20 responses in median nerve SEPs in patients after CPR.
Pipp-Siegel, Sandra; Siegel, Clifford H.; Dean, Janet
Examines possible neurological causes of the various indices of D attachment status. Describes a system of attachment categories and the criteria for assessing disorganized and disoriented behavior, pointing out which of these behaviors may result from neurological abnormalities. Suggests a strategy for differentiating neurological risk status…
Juul, Dorthea; Winstead, Daniel K.; Sheiber, Stephen C.
OBJECTIVE: To report the assessment of psychopharmacology on the certification and recertification exams in general psychiatry and in the subspecialties administered by the American Board of Psychiatry and Neurology (ABPN). METHODS: The ABPN's core competencies for psychiatrists were reviewed. The number of items addressing psychopharmacology or…
Hermes, Gretchen; Ajioka, James W; Kelly, Krystyna A; Mui, Ernest; Roberts, Fiona; Kasza, Kristen; Mayr, Thomas; Kirisits, Michael J; Wollmann, Robert; Ferguson, David JP; Roberts, Craig W; Hwang, Jong-Hee; Trendler, Toria; Kennan, Richard P; Suzuki, Yasuhiro; Reardon, Catherine; Hickey, William F; Chen, Lieping; McLeod, Rima
Background Worldwide, approximately two billion people are chronically infected with Toxoplasma gondii with largely unknown consequences. Methods To better understand long-term effects and pathogenesis of this common, persistent brain infection, mice were infected at a time in human years equivalent to early to mid adulthood and studied 5–12 months later. Appearance, behavior, neurologic function and brain MRIs were studied. Additional analyses of pathogenesis included: correlation of brain weight and neurologic findings; histopathology focusing on brain regions; full genome microarrays; immunohistochemistry characterizing inflammatory cells; determination of presence of tachyzoites and bradyzoites; electron microscopy; and study of markers of inflammation in serum. Histopathology in genetically resistant mice and cytokine and NRAMP knockout mice, effects of inoculation of isolated parasites, and treatment with sulfadiazine or αPD1 ligand were studied. Results Twelve months after infection, a time equivalent to middle to early elderly ages, mice had behavioral and neurological deficits, and brain MRIs showed mild to moderate ventricular dilatation. Lower brain weight correlated with greater magnitude of neurologic abnormalities and inflammation. Full genome microarrays of brains reflected inflammation causing neuronal damage (Gfap), effects on host cell protein processing (ubiquitin ligase), synapse remodeling (Complement 1q), and also increased expression of PD-1L (a ligand that allows persistent LCMV brain infection) and CD 36 (a fatty acid translocase and oxidized LDL receptor that mediates innate immune response to beta amyloid which is associated with pro-inflammation in Alzheimer's disease). Immunostaining detected no inflammation around intra-neuronal cysts, practically no free tachyzoites, and only rare bradyzoites. Nonetheless, there were perivascular, leptomeningeal inflammatory cells, particularly contiguous to the aqueduct of Sylvius and hippocampus
Fleet, Alana; Che, Marion; MacKay-Lyons, Marilyn; MacKenzie, Diane; Page, Stephen; Eskes, Gail; McDonald, Alison; Boyce, Joy
ABSTRACT Purpose: To investigate the use of constraint-induced movement therapy (CIMT) in Canadian neurological occupational and physical therapy. Method: An online survey was completed by occupational and physical therapists practising in Canadian adult neurological rehabilitation. We measured participants' practices, perceptions, and opinions in relation to their use of CIMT in clinical practice. Results: A total of 338 surveys were returned for a 13% response rate; 92% of respondents knew of CIMT, and 43% reported using it. The majority (88%) of respondents using CIMT employed a non-traditional protocol. Self-rating of level of CIMT knowledge was found to be a significant predictor of CIMT use (p≤0.001). Commonly identified barriers to use included “patients having cognitive challenges that prohibit use of this treatment” and “lack of knowledge regarding treatment.” Conclusions: Although the majority of respondents knew about CIMT, less than half reported using it. Barriers to CIMT use include lack of knowledge about the treatment and institutional resources to support its use. Identifying and addressing barriers to CIMT use—for example, by using continuing professional education to remediate knowledge gaps or developing new protocols that require fewer institutional resources—can help improve the feasibility of CIMT, and thus promote its clinical application. PMID:24719511
Filho, Hamilton Cabral de Menezes; Marui, Suemi; Manna, Thais Della; Brust, Ester Saraiva; Radonsky, Vanessa; Kuperman, Hilton; Dichtchekenian, Vaê; Setian, Nuvarte; Damiani, Durval
MCT8 is a cellular transporter of thyroid hormones important in their action and metabolization. We report a male patient with the novel inactivating mutation 630insG in the coding region in exon 1 of MCT8. He was characterized clinically by severe neurologic impairment (initially with global hypotonia, later evolving with generalized hypertonia), normal growth during infancy, reduced weight gain, and absence of typical signs and symptoms of hypothyroidism, while the laboratory evaluation disclosed elevated T3, low total and free T4, and mildly elevated TSH serum levels. Treatment with levothyroxine improved thyroid hormone profile but was not able to alter the clinical picture of the patient. These data reinforce the concept that the role of MCT8 is tissue-dependent: while neurons are highly dependent on MCT8, bone tissue, adipose tissue, muscle, and liver are less dependent on MCT8 and, therefore, may suffer the consequences of the exposition to high serum T3 levels.
Zumbrennen-Bullough, Kimberly B.; Becker, Lore; Garrett, Lillian; Hölter, Sabine M.; Calzada-Wack, Julia; Mossbrugger, Ilona; Quintanilla-Fend, Leticia; Racz, Ildiko; Rathkolb, Birgit; Klopstock, Thomas; Wurst, Wolfgang; Zimmer, Andreas; Wolf, Eckhard; Fuchs, Helmut; Gailus-Durner, Valerie; de Angelis, Martin Hrabě; Romney, Steven J.; Leibold, Elizabeth A.
Iron Regulatory Protein 2 (Irp2, Ireb2) is a central regulator of cellular iron homeostasis in vertebrates. Two global knockout mouse models have been generated to explore the role of Irp2 in regulating iron metabolism. While both mouse models show that loss of Irp2 results in microcytic anemia and altered body iron distribution, discrepant results have drawn into question the role of Irp2 in regulating brain iron metabolism. One model shows that aged Irp2 deficient mice develop adult-onset progressive neurodegeneration that is associated with axonal degeneration and loss of Purkinje cells in the central nervous system. These mice show iron deposition in white matter tracts and oligodendrocyte soma throughout the brain. A contrasting model of global Irp2 deficiency shows no overt or pathological signs of neurodegeneration or brain iron accumulation, and display only mild motor coordination and balance deficits when challenged by specific tests. Explanations for conflicting findings in the severity of the clinical phenotype, brain iron accumulation and neuronal degeneration remain unclear. Here, we describe an additional mouse model of global Irp2 deficiency. Our aged Irp2−/− mice show marked iron deposition in white matter and in oligodendrocytes while iron content is significantly reduced in neurons. Ferritin and transferrin receptor 1 (TfR1, Tfrc), expression are increased and decreased, respectively, in the brain from Irp2−/− mice. These mice show impairments in locomotion, exploration, motor coordination/balance and nociception when assessed by neurological and behavioral tests, but lack overt signs of neurodegenerative disease. Ultrastructural studies of specific brain regions show no evidence of neurodegeneration. Our data suggest that Irp2 deficiency dysregulates brain iron metabolism causing cellular dysfunction that ultimately leads to mild neurological, behavioral and nociceptive impairments. PMID:24896637
Jones, Simon R.
The causes of auditory verbal hallucinations (AVHs) are still unclear. The evidence for 2 prominent cognitive models of AVHs, one based on inner speech, the other on intrusions from memory, is briefly reviewed. The fit of these models, as well as neurological models, to the phenomenology of AVHs is then critically examined. It is argued that only a minority of AVHs, such as those with content clearly relating to verbalizations experienced surrounding previous trauma, are consistent with cognitive AVHs-as-memories models. Similarly, it is argued that current neurological models are only phenomenologically consistent with a limited subset of AVHs. In contrast, the phenomenology of the majority of AVHs, which involve voices attempting to regulate the ongoing actions of the voice hearer, are argued to be more consistent with inner speech–based models. It is concluded that subcategorizations of AVHs may be necessary, with each underpinned by different neurocognitive mechanisms. The need to study what is termed the dynamic developmental progression of AVHs is also highlighted. Future empirical research is suggested in this area. PMID:18820262
Weatherhead, Jill E.; Miller, Vicki E.; Garcia, Melissa N.; Hasbun, Rodrigo; Salazar, Lucrecia; Dimachkie, Mazen M.; Murray, Kristy O.
The Houston West Nile Cohort (HWNC) was founded in 2002 when West Nile virus (WNV) reached Houston, TX. The long-term outcomes following WNV infection are still mostly unknown, though neurological abnormalities up to 1 year postinfection have been documented. We report an observational study of neurological abnormalities at 1–3 and 8–11 years following WNV infection in the HWNC. We conducted standard neurological examinations at two separate time points to assess changes in neurological status over time. The majority of patients (86%, 30/35) with encephalitis had abnormal neurological exam findings at the time of the first assessment compared with uncomplicated fever (27%, 3/11) and meningitis (36%, 5/14) cases. At the time of the second assessment, 57% (4/7) of West Nile fever (WNF), 33% (2/6) of West Nile meningitis (WNM), and 36% (5/14) of West Nile encephalitis (WNE) had developed new neurological complications. The most common abnormalities noted were tandem gait, hearing loss, abnormal reflexes, and muscle weakness. Long-term neurological abnormalities were most commonly found in patients who experienced primary WNV encephalitis. New abnormalities may develop over time regardless of initial clinical infection. Future studies should aim to differentiate neurological consequences due to WNV neuroinvasive infection versus neurological decline related to comorbid conditions. PMID:25802426
Moonen, V; Phan Ba, R; Rikir, E; Andris, C; Moonen, G
Eye movements abnormalities are common symptoms in neurology. We report a clinical observation of ischemic unilateral internuclear ophtalmoplegia to illustrate how much anatomical diagnosis is based on 1) a detailed neurological examination and 2) a deep knowledge and understanding of the anatomy and physiology of ocular movements. We also take this opportunity to review ocular symptoms and signs encountered in neurological practice.
Todnem, K; Nyland, H; Skeidsvoll, H; Svihus, R; Rinck, P; Kambestad, B K; Riise, T; Aarli, J A
Forty commercial saturation divers, mean age 34.9 (range 24-49) years, were examined one to seven years after their last deep dive (190-500 metres of seawater). Four had by then lost their divers' licence because of neurological problems. Twenty seven (68%) had been selected by neurological examination and electroencephalography before the deep dives. The control group consisted of 100 men, mean age 34.0 (range 22-48) years. The divers reported significantly more symptoms from the nervous system. Concentration difficulties and paraesthesia in feet and hands were common. They had more abnormal neurological findings by neurological examination compatible with dysfunction in the lumbar spinal cord or roots. They also had a larger proportion of abnormal electroencephalograms than the controls. The neurological symptoms and findings were highly significantly correlated with exposure to deep diving (depth included), but even more significantly correlated to air and saturation diving and prevalence of decompression sickness. Visual evoked potentials, brainstem auditory evoked potentials, and magnetic resonance imaging of the brain did not show more abnormal findings in the divers. Four (10%) divers had had episodes of cerebral dysfunction during or after the dives; two had had seizures, one had had transitory cerebral ischaemia and one had had transitory global amnesia. It is concluded that deep diving may have a long term effect on the nervous system of the divers. PMID:2025592
Underwood, O.; Madison, J.; Martens, R. M.; Thompson, G. B.; Welsh, S.; Evans, J.
Here, this study offers experimental observation of the effect of low strain conditions (ε < 10%) on abnormal grain growth (AGG) in Nickel-200. At such conditions, stored mechanical energy is low within the microstructure enabling one to observe the impact of increasing mechanical deformation on the early onset of AGG compared to a control, or nondeformed, equivalent sample. The onset of AGG was observed to occur at specific pairings of compressive strain and annealing temperature and an empirical relation describing the influence of thermal exposure and strain content was developed. The evolution of low-Σ coincident site lattice (CSL) boundaries and overall grain size distributions are quantified using electron backscatter diffraction preceding, at onset and during ensuing AGG, whereby possible mechanisms for AGG in the low strain regime are offered and discussed.
Underwood, O.; Madison, J.; Martens, R. M.; ...
Here, this study offers experimental observation of the effect of low strain conditions (ε < 10%) on abnormal grain growth (AGG) in Nickel-200. At such conditions, stored mechanical energy is low within the microstructure enabling one to observe the impact of increasing mechanical deformation on the early onset of AGG compared to a control, or nondeformed, equivalent sample. The onset of AGG was observed to occur at specific pairings of compressive strain and annealing temperature and an empirical relation describing the influence of thermal exposure and strain content was developed. The evolution of low-Σ coincident site lattice (CSL) boundaries andmore » overall grain size distributions are quantified using electron backscatter diffraction preceding, at onset and during ensuing AGG, whereby possible mechanisms for AGG in the low strain regime are offered and discussed.« less
Horwitz, Henrik; Degn, Matilda; Modvig, Signe; Larsson, Henrik B W; Wanscher, Benedikte; Frederiksen, Jette L
Optic neuritis (ON) is linked to multiple sclerosis (MS). The presence of white matter lesions on cerebral magnetic resonance imaging (MRI) predicts the risk of MS after ON with considerable accuracy. Oligoclonal bands (OCB) are present in 95 % of MS patients, and a lumbar puncture can also be valuable in the evaluation of patients with ON. We analyzed CSF findings in patients referred with ON in the context of MRI and visual evoked potential (VEP) pathology. We assessed the possible contributory role of a lumbar puncture and weigh this against disadvantages of the procedure. Between February 2003 and November 2011, 505 patients were referred by ophthalmologists to the Clinic of Optic Neuritis, Glostrup Hospital, University of Copenhagen. None had MS prior to referral. A total of 437 were included in the study, and all underwent MRI, a lumbar puncture and VEP. Patients with other organic causes of their symptoms and patients with >3 months between onset and tests were excluded. All files were reviewed retrospectively. CSF leukocytes and the IgG index were elevated in 33 and 41 %, respectively, and OCBs were detected in 61 % of patients. CSF abnormalities correlated strongly with VEP and MRI (p < 0.0001). Patients with normal VEP and MRI had a 96 % probability of a normal lumbar puncture. The contributory role of a lumbar puncture in the evaluation of ON seems negligible when patients have a normal VEP and MRI. We suggest that all patients should be evaluated with VEP and MRI before deciding on a lumbar puncture.
Tarver, R.D.; Richmond, B.D.; Klatte, E.C.
To determine the role of brain CT in neurologically asymptomatic lung cancer patients a review was made of the CT and clinical findings in 279 patients. Brain metastases were found in 94.5% of patients with specific abnormal neurological findings, 26.6% of patients with vague neurological signs and symptoms, 11% of patients with oat cell carcinoma and a normal neurological examination, and 40% of patients with adenocarcinoma and a normal neurological examination. Brain metastasis was not seen on CT in the 29 patients with squamous cell carcinoma and a normal neurological examination. It is concluded that brain CT is useful for the detection of occult brain metastases, particularly oat cell carcinoma and adenocarcinoma, in neurologically asymptomatic lung cancer patients.
Houlden, Henry; Charlton, Paul; Singh, Dishan
Neurology encompasses all aspects of medicine and surgery, but is closer to orthopaedic surgery than many other specialities. Both neurological deficits and bone disorders lead to locomotor system abnormalities, joint complications and limb problems. The main neurological conditions that require the attention of an orthopaedic surgeon are disorders that affect the lower motor neurones. The most common disorders in this group include neuromuscular disorders and traumatic peripheral nerve lesions. Upper motor neurone disorders such as cerebral palsy and stroke are also frequently seen and discussed, as are chronic conditions such as poliomyelitis. The management of these neurological problems is often coordinated in the neurology clinic, and this group, probably more than any other, requires a multidisciplinary team approach. PMID:17308288
The present paper reviews the methods available for neurological or neuromotor evaluation at preschool age. General textbooks on pediatric neurology describe the neurological examination at preschool age in terms of the assessment of the evaluation of cranial nerves, muscle tone, muscle power, reflexes, and the presence of abnormal movements. They…
Rose, Michael R; Brix, Kelley Ann
We present a review of neurological function in Gulf War veterans (GWV). Twenty-two studies were reviewed, including large hospitalization and registry studies, large population-based epidemiological studies, investigations of a single military unit, small uncontrolled studies of ill veterans and small controlled studies of veterans. In nearly all studies, neurological function was normal in most GWVs, except for a small proportion who were diagnosed with compression neuropathies (carpal tunnel syndrome or ulnar neuropathy). In the great majority of controlled studies, there were no differences in the rates of neurological abnormalities in GWVs and controls. In a national US study, the incidence of amyotrophic lateral sclerosis (ALS) seems to be significantly increased in GWVs, compared to the rate in controls. However, it is possible that military service, in general, might be associated with an increased risk of ALS, rather than Gulf War service in particular. Taken together, the conclusion is that if a neurological examination in a GWV is within normal limits, then extensive neurological testing is unlikely to diagnose occult neurological disorders. PMID:16687265
Traylor, Ryan N; Fan, Zheng; Hudson, Beth; Rosenfeld, Jill A; Shaffer, Lisa G; Torchia, Beth S; Ballif, Blake C
Background Of the fewer than 100 cases reported within the literature of constitutional deletions involving the long arm of chromosome 6, only five have been characterized using high-resolution microarray analysis. Reported 6q deletion patients show a high incidence of mental retardation, ear anomalies, hypotonia, and postnatal growth retardation. Results We report a 16-month-old male presenting with developmental delay and dysmorphic features who was found by array-based comparative genomic hybridization (aCGH) to have a ~2.16 Mb de novo deletion within chromosome band 6q16.1 that encompasses only two genes. Expression studies of the mouse homologue of one of the genes, the ephrin receptor 7 gene (EPHA7), have shown the gene functions during murine embryogenesis to form cortical domains, determine brain size and shape, and play a role in development of the central nervous system (CNS). Discussion Our results suggest that deletion of EPHA7 plays a role in the neurologic and dysmorphic features, including developmental delay, hypotonia, and ear malformations, observed in some 6q deletion patients. PMID:19664229
Rinchik, E M; Carpenter, D A; Handel, M A
Variability and complexity of phenotypes observed in microdeletion syndromes can be due to deletion of a single gene whose product participates in several aspects of development or can be due to the deletion of a number of tightly linked genes, each adding its own effect to the syndrome. The p6H deletion in mouse chromosome 7 presents a good model with which to address this question of multigene vs. single-gene pleiotropy. Mice homozygous for the p6H deletion are diluted in pigmentation, are smaller than their littermates, and manifest a nervous jerky-gait phenotype. Male homozygotes are sterile and exhibit profound abnormalities in spermiogenesis. By using N-ethyl-N-nitrosourea (EtNU) mutagenesis and a breeding protocol designed to recover recessive mutations expressed hemizygously opposite a large p-locus deletion, we have generated three noncomplementing mutations that map to the p6H deletion. Each of these EtNU-induced mutations has adverse effects on the size, nervous behavior, and progression of spermiogenesis that characterize p6H deletion homozygotes. Because EtNU is thought to induce primarily intragenic (point) mutations in mouse stem-cell spermatogonia, we propose that the trio of phenotypes (runtiness, nervous jerky gait, and male sterility) expressed in p6H deletion homozygotes is the result of deletion of a single highly pleiotropic gene. We also predict that a homologous single locus, quite possibly tightly linked and distal to the D15S12 (P) locus in human chromosome 15q11-q13, may be associated with similar developmental abnormalities in humans.
Vaz, Frederico Fontanelli; Locatelli-Dittrich, Rosangela; Beltrame, Olair Carlos; Sipinski, Elenise Angelotti Bastos; Abbud, Maria Cecília; Sezerban, Rafael Meirelles
The red-tailed Amazon parrot (Amazona brasiliensis) is an endangered psittacine species, but little information is available about abnormal clinical findings and hematologic and biochemical values of this species, which are important for monitoring the health of this population. To determine hematologic and biochemical values for wild red-tailed parrot nestlings exhibiting abnormal clinical findings, 31 nestlings from the Rasa Island (Paraná State, Southern Brazil) were physically restrained for clinical examination and blood sample collection. On physical examination, 26 birds had mild abnormalities and 5 had severe disorders. Parrots were divided into 5 groups according to the following clinical findings: presence of ectoparasites (group 1), respiratory disorders (group 2), chronic skin lesions caused by fly larvae (group 3), beak disorders (group 4), and severe clinical signs (group 5). Abnormal hematologic and biochemical findings in the nestlings were high total protein in group 3; low values for hemoglobin and mean corpuscular hemoglobin concentration in group 4; low glucose concentration, high mean absolute heterophil count, and high heterophil : lymphocyte ratio in group 5; high concentrations of total plasma protein in groups 3 and 4; and high globulin concentration in groups 3 and 5. In general, the population assessed was in good condition. These results provide a guide to the expected clinical findings associated with hematologic and biochemical concentrations in a population of free-living parrots with abnormal clinical examination findings. The data support the conservation planning and health monitoring of the endangered red-tailed Amazon parrot.
Sposato, Luciano A; Fustinoni, Osvaldo
Iatrogenic disease is one of the most frequent causes of hospital admissions and constitutes a growing public health problem. The most common type of iatrogenic neurologic disease is pharmacologic, and the central and peripheral nervous systems are particularly vulnerable. Despite this, iatrogenic disease is generally overlooked as a differential diagnosis among neurologic patients. The clinical picture of pharmacologically mediated iatrogenic neurologic disease can range from mild to fatal. Common and uncommon forms of drug toxicity are comprehensively addressed in this chapter. While the majority of neurologic adverse effects are listed and referenced in the tables, the most relevant issues are further discussed in the text.
Appel, S.H. )
The topics covered in this book include: Duchenne muscular dystrophy: DNA diagnosis in practice; Central nervous system magnetic resonance imaging; and Magnetic resonance spectroscopy of neurologic diseases.
Carne, C A; Stibe, C; Bronkhurst, A; Newman, S P; Weller, I V; Kendall, B E; Harrison, M J
Thirty one homosexual men with antibody to human immunodeficiency virus (HIV) but without major neurological complaints were assessed in a cross sectional study of neurological and neuropsychological function. Eleven patients had AIDS, 10 had persistent generalised lymphadenopathy (PGL), and 10 had HIV infection without PGL (called "well"). Thirteen age matched homosexual men without antibody to HIV acted as controls. Significant abnormalities were found in six on clinical neurological examination, in eight on nerve conduction studies, in six on electroencephalography, in six on neuropsychological assessment, and in eight on computed tomography of the head. Eighteen patients (nine with AIDS, four with PGL, and five "well") performed abnormally in at least one section of the assessment. The study highlights the incidence of nervous system dysfunction in HIV infection even in people who do not have AIDS. Prospective evaluation using electrophysiological and imaging techniques is necessary to assess the natural history of such manifestations and the effect of antiviral treatment.
Lehman, R A; Reeves, J D; Wilson, W B; Wesenberg, R L
Seven cases of infantile osteopetrosis are presented. Five of these were available for detailed clinical examination and 2 for retrospective review, including autopsy slides. Neurological deficits in these patients are reviewed. Involvement of the central nervous system parenchyma was suggested by observations of delayed development, ocular abnormalities, and reflex changes as well as radiographic and autopsy findings. Cerebral atrophy was present in several of our patients as well as some reported in the literature and may account for the ventricular enlargement found in many of these patients. Though hydrocephalus may be present, it is unclear that this is frequent or that it can occur without antecedent intracranial hemorrhage. The large head size is not accounted for by calvarial thickening or by hydrocephalus. Despite our patients' small stature, pituitary function appeared to be normal. Surgical decompression may stabilize cranial nerve function, particularly when the optic nerves are involved.
Hecht, Jacqueline T; Bodensteiner, John B; Butler, Ian J
Achondroplasia is the best described and most common form of the congenital short-limbed dwarfing conditions. Achondroplasia is apparent at birth and has a birth prevalence of 1 in 20000-30000 live-born infants. Achondroplasia is inherited as an autosomal dominant condition, although 80% of cases occur sporadically as new events in their families. Achondroplasia is caused, in virtually all of the cases, by a G380R mutation in fibroblast growth factor receptor 3 (FGFR3). Patients with achondroplasia should be evaluated by a multidisciplinary team of clinicians including geneticists, neurologists, and orthopedists, since there are numerous bony and neurological complications. The most severe complication results from craniocervical stenosis and medullary and upper spinal cord compression, which can have devastating and even lethal sequelae during early childhood. In subsequent decades, including adolescence, spinal cord and nerve compression are more prominent. The neurological complications of achondroplasia have been recognized in adults for more than a century and are attributed to bony defects, connective tissue structures, or both. Similar neurological complications are now appreciated in infants, young children, and teenagers with achondroplasia. Defective connective tissue elements in achondroplasia frequently lead to ligamentous laxity, which can aggravate the complications associated with bony stenosis. Bony abnormalities are known to cause neurological morbidity and lead to a shortened lifespan. Neurological complications associated with achondroplasia are reviewed, including recommendations for the evaluation and management of these clinical problems.
Rutledge, S L; Snead, O C
Although there does appear to be at least a temporal relationship between pertussis immunization and serious acute neurologic illness, data to suggest that children with stable preexisting neurologic disease or positive family history of neurologic disease are at increased risk for complications of pertussis immunizations are inconclusive. Furthermore, there are no firm statistical data concerning the incidence of pertussis vaccine-related encephalopathy. Rather, the literature on pertussis vaccine complications is replete with anecdotal reports and retrospective studies with a number of questionable conclusions drawn from this inadequate data base. Unfortunately, these conclusions have been sensationalized and exploited with litigious fervor to the point that the practice of pertussis immunization is being questioned in the United States. A number of points should be reiterated: pertussis is a dangerous and deadly disease, as seen in the epidemic in Great Britain; pertussis immunization is effective in protecting against the disease; and there is no conclusive proof that the incidence of complications from pertussis vaccination of children with seizure disorders or other preexisting stable neurologic abnormalities is higher, because appropriate studies have not been done to define such a risk. We would do well to keep these facts in mind in order to avoid a disaster similar to the pertussis epidemic in Great Britain. Pertussis vaccination should be given to all children except those with allergic hypersensitivity, a progressive neurologic disorder, or an adverse reaction to a previous pertussis dose.
León-Sarmiento, Fidias E; Gutiérrez, Claudia; Bayona-Prieto, Jaime
Benign essential blepharospasm is characterized by abnormal repetitive movements of lid closure and spasm of the orbiculari oculi muscles. Modern theories postulate that this movement disorder originates by abnormal processing of afferent information with further disintegration of the sensorimotor neural program at central levels of the nervous system all of which is seen as dystonic movements in genetically susceptible people. Different investigations including neuroimagin, genetic and neurophysiological studies have discovered new findings on what structures are involved and how this abnormal movement is generated. Among these research is noteworthy the study of electrically elicited blink reflex. It consists of three responses called non-nociceptive (R1), nociceptive (R2) and ultranociceptive (R3). Such blink reflexes, mostly the ultranociceptive response (R3), seem to be very useful to understand more deeply the pathophysiology of this focal dystonia, to perform the functional endophenotyping and to do a more appropriate follow-up of this complex neurological problem.
Schor, Nina F
As it is currently configured, completion of child neurology residency requires performance of 12 months of training in adult neurology. Exploration of whether or not this duration of training in adult neurology is appropriate for what child neurology is today must take into account the initial reasons for this requirement and the goals of adult neurology training during child neurology residency.
Piecuch, J F; Lieblich, S E
Neurologic emergencies are rare, and they usually occur in easily identifiable patients, provided that a thorough medical history has been previously obtained. Rare as these may be, however, they occur without warning and are potentially life threatening. Consequently, the dentist should be prepared by virtue of knowledge of the pathophysiology and therapy and by formal training and certification in basic life support.
Asia is important as it accounts for more than half of the world population. The majority of Asian countries fall into the middle income category. As for cultural traditions, Asia is highly varied, with many languages spoken. The pattern of neurologic diseases in Asia is largely similar to the West, with some disease features being specific to Asia. Whereas Asia constitutes 60% of the world's population, it contains only 20% of the world's neurologists. This disparity is particularly evident in South and South East Asia. As for neurologic care, it is highly variable depending on whether it is an urban or rural setting, the level of economic development, and the system of health care financing. To help remedy the shortage of neurologists, most counties with larger populations have established training programs in neurology. These programs are diverse, with many areas of concern. There are regional organizations serving as a vehicle for networking in neurology and various subspecialties, as well as an official journal (Neurology Asia). The Asian Epilepsy Academy, with its emphasis on workshops in various locations, EEG certification examination, and fellowships, may provide a template of effective regional networking for improving neurology care in the region.
Chao, Ariana; Grey, Margaret; Whittemore, Robin; Reuning-Scherer, Jonathan; Grilo, Carlos M; Sinha, Rajita
To test whether binge eating and emotional eating mediate the relationships between self-reported stress, morning cortisol and the homeostatic model of insulin resistance and waist circumference. We also explored the moderators of gender and age. Data were from 249 adults (mean BMI = 26.9 ± 5.1 kg/m(2); mean age = 28.3 ± 8.3 years; 54.2% male; 69.5% white) recruited from the community who were enrolled in a cross-sectional study. Participants completed a comprehensive assessment panel of psychological and physiological assessments including a morning blood draw for plasma cortisol. We found negative relationships between stress and morning cortisol (r = -0.15 to -0.21; p < 0.05), and cortisol and the homeostatic model of insulin resistance and waist circumference (r = -0.16, -0.25, respectively; p < 0.05). There was not statistical support for binge eating or emotional eating as mediators and no support for moderated mediation for either gender or age; however, gender moderated several paths in the model. These include the paths between perceived stress and emotional eating (B = 0.009, p < 0.001), perceived stress and binge eating (B = 0.01, p = 0.003), and binge eating and increased HOMA-IR (B = 0.149, p = 0.018), which were higher among females. Among women, perceived stress may be an important target to decrease binge and emotional eating. It remains to be determined what physiological and psychological mechanisms underlie the relationships between stress and metabolic abnormalities.
Galán, Alba; Gamito, Araceli; Carletti, Beatrice E.; Guisado, Alicia; de las Mulas, Juana Martín; Pérez, José; Martín, Eva M.
Four uncommon cases of canine distemper (CD) were diagnosed in vaccinated adult dogs. All dogs had acute onset of neurologic signs, including seizures, abnormal mentation, ataxia, and proprioceptive deficits. Polymerase chain reaction for CD virus was positive on cerebrospinal fluid in 2 cases. Due to rapid deterioration the dogs were euthanized and CD was confirmed by postmortem examination. PMID:24688139
Galán, Alba; Gamito, Araceli; Carletti, Beatrice E; Guisado, Alicia; de las Mulas, Juana Martín; Pérez, José; Martín, Eva M
Four uncommon cases of canine distemper (CD) were diagnosed in vaccinated adult dogs. All dogs had acute onset of neurologic signs, including seizures, abnormal mentation, ataxia, and proprioceptive deficits. Polymerase chain reaction for CD virus was positive on cerebrospinal fluid in 2 cases. Due to rapid deterioration the dogs were euthanized and CD was confirmed by postmortem examination.
Richter, J; Wagatsuma, Y; Aryeetey, M; Feldmeier, H
In areas where Schistosoma haematobium is endemic, urinary schistosomiasis and pregnancy are frequently concomitant; however, both these conditions may produce similar urinary tract changes in ultrasound scans and hence their differential diagnosis may be difficult. In patients with urinary schistosomiasis, focal and/or diffuse urinary bladder wall changes are frequently detected ultrasonically. Dilatation of one or both ureters and progressive hydronephrosis may be observed in more severe cases. Satisfactory ultrasound examination of the urinary bladders of pregnant women is generally not feasible because mechanical compression by the fetus or transitory lower urinary tract infection hampers adequate filling of the bladder. Pregnancy itself is frequently associated with dilatation of one or both ureters and/or hydronephrosis; this is due to hormonal factors, infection, or compression of one or both ureters by the enlarged uterus and growing fetus. Hence, when sonography of the urinary bladder is not feasible such pregnancy-associated changes are virtually indistinguishable from those caused by S. haematobium, and may be incorrectly attributed to the latter. Pregnant women, therefore, should be excluded from ultrasonic surveys of urinary schistosomiasis. In contrast, ultrasound scans of adolescents and of women with positive parasitological findings and/or pathological alterations in the urinary tract should include examination of the uterus in order to assess whether the woman is pregnant; thereby, misinterpretation of sonographic findings can be avoided. Pregnant women with significant hydronephrosis must be closely followed up by an obstetrician since this condition may indicate a complication of the pregnancy; in some cases only a postpartum examination will permit definitive diagnosis.
... Listen Español Text Size Email Print Share Congenital Abnormalities Page Content Article Body About 3% to 4% ... of congenital abnormalities earlier. 5 Categories of Congenital Abnormalities Chromosome Abnormalities Chromosomes are structures that carry genetic ...
Dopamine and T cells: dopamine receptors and potent effects on T cells, dopamine production in T cells, and abnormalities in the dopaminergic system in T cells in autoimmune, neurological and psychiatric diseases.
Dopamine, a principal neurotransmitter, deserves upgrading to 'NeuroImmunotransmitter' thanks to its multiple, direct and powerful effects on most/all immune cells. Dopamine by itself is a potent activator of resting effector T cells (Teffs), via two independent ways: direct Teffs activation, and indirect Teffs activation by suppression of regulatory T cells (Tregs). The review covers the following findings: (i) T cells express functional dopamine receptors (DRs) D1R-D5R, but their level and function are dynamic and context-sensitive, (ii) DR membranal protein levels do not necessarily correlate with DR mRNA levels, (iii) different T cell types/subtypes have different DR levels and composition and different responses to dopamine, (iv) autoimmune and pro-inflammatory T cells and T cell leukaemia/lymphoma also express functional DRs, (v) dopamine (~10(-8) M) activates resting/naive Teffs (CD8(+) >CD4(+) ), (vi) dopamine affects Th1/Th2/Th17 differentiation, (vii) dopamine inhibits already activated Teffs (i.e. T cells that have been already activated by either antigen, mitogen, anti-CD3 antibodies cytokines or other molecules), (viii) dopamine inhibits activated Tregs in an autocrine/paracrine manner. Thus, dopamine 'suppresses the suppressors' and releases the inhibition they exert on Teffs, (ix) dopamine affects intracellular signalling molecules and cascades in T cells (e.g. ERK, Lck, Fyn, NF-κB, KLF2), (x) T cells produce dopamine (Tregs>Teffs), can release dopamine, mainly after activation (by antigen, mitogen, anti-CD3 antibodies, PKC activators or other), uptake extracellular dopamine, and most probably need dopamine, (xi) dopamine is important for antigen-specific interactions between T cells and dendritic cells, (xii) in few autoimmune diseases (e.g. multiple sclerosis/SLE/rheumatoid arthritis), and neurological/psychiatric diseases (e.g. Parkinson disease, Alzheimer's disease, Schizophrenia and Tourette), patient's T cells seem to have abnormal DRs
Rocha, Cristiane; Gouvêa, Aída; Machado, Daisy; Cunegundes, Kelly; Beltrão, Suênia; Bononi, Fabiana; Succi, Regina Célia
The CNS infection by HIV-1 in infancy could be present immediately after infection or became manifest later. Microcephalia, mental retardation, pyramidal signs, humor and behavioral disorders and antiretroviral therapy complications are common. This is an observational, sectional and descriptive study about findings on neurological examination of 173 patients in a group of children and adolescents infected and exposed to HIV-1 in perinatal period. Most of them had more than one neurological finding or different diagnosis. The more common findings were: encephalopathy, mental retardation, language delay, pyramidal signs, hyporeflexia. The neurological examination was abnormal in 67% of all patients even in seroreverters. We suggest that this group has a high risk to neurological disease and the development of co-morbidity is directly correlated to clinical deterioration by HIV-1 infection.
Willison, H J; Muller, D P; Matthews, S; Jones, S; Kriss, A; Stead, R J; Hodson, M E; Harding, A E
A patient with cystic fibrosis and undetectable serum vitamin E concentrations is described who developed a progressive spinocerebellar syndrome and pigmentary retinopathy with abnormal somatosensory and visual evoked potentials (SSEPs and VEPs). In order to assess the relationship between neurological function and serum vitamin E concentrations in cystic fibrosis, 29 unselected patients who had no neurological symptoms were examined neurologically. Ten were randomly selected for neurophysiological assessment by recording SSEPs and VEPs. Electroretinograms (ERGs) were also performed in five cases. The findings were correlated with serum vitamin E concentrations which were unknown to the neurological investigators prior to completion of the study. Only one patient had definite reflex and sensory abnormalities, and the remaining 28 were clinically normal. The ERG was abnormal in two cases, one of whom had abnormal VEPs. SSEPs were normal in all 10 cases. Twenty six patients had serum vitamin E concentrations below the normal range. In two of the three patients who had definite neurological or electrophysiological abnormalities serum vitamin E concentrations were below the median value for the whole group. PMID:4078574
The first medical society of Japanese neurologists and psychiatrists was founded in 1902, but psychiatrists gradually dominated in number. New "Japanese Society of Neurology" (JSN) was founded in 1960. The number of members was only 643 in 1960, while it rose up to 8,555 in 2009, including regular, junior, senior and associate members. JSN contributed much to solve the causes and treatment of the medicosocial and iatrogenic diseases such as Minamata disease and SMON (subacute myelopticoneuropathy) at its early period. In undergraduate education at medical school neurology is one of the core subjects in the curriculum, and almost all the 80 medical schools have at least one faculty neurologist. The Board of neurology of JSN was started in 1975, as the third earliest of the Japanese Medical Associations. It takes at least 6 years' clinical training after graduating from the medical school to take the neurology Board examinations. By 2009, 4,000 members passed the Board examinations. In 2002 JSN published evidence-based "Treatment Guidelines 2002" of 6 diseases: Parkinson's disease, stroke, chronic headache, dementia and ALS. As to the international issues, JSN hosted the 12th World Congress of Neurology in 1981, and international activities markedly increased after that. The first informal meeting with JSN and Korean Neurological Association (KNA) was held at the 48th JSN Annual Meeting in Nagoya in May 2007. In May 2008 the KNA-JSN 1st Joint symposium was held at the 49th Annual Meeting of JSN in Yokohama on "International comparison of neurological disorders: focusing on spinocerebellar atrophies (SCA) and epilepsies". In May 2009, KNA-JNS 2 nd Joint Symposium was held at the 50th JSN Annual Meeting in Sendai, inviting a speaker from Taiwan Neurological Society, on the subject "History and Education of Neurology in Japan, Korea and Taiwan". In this symposium, a strategy to make up the Northeast Asian Neurological Association was discussed.
Panagiotidis, P; Kaprinis, G; Iacovides, A; Fountoulakis, K
Though the pathobiology of schizophrenia can be examined in multiple levels, the organic notion of brain disease suggests that neurological features will be present. One straightforward, inexpensive method of investigating brain dysfunction in schizophrenia is thought the bedside assessment of neurological abnormalities with a standard neurological examination. Neurological abnormalities are traditionally classified as "hard signs" (impairments in basic motor, sensory, and reflex behaviors, which do not appear to be affected in schizophrenia) and "soft signs", which refer to more complex phenomena such as abnormalities in motor control, integrative sensory function, sensorimotor integration, and cerebral laterality. Additionally, neurological soft signs (NSS) are minor motor and sensory abnormalities that are considered to be normal in the course of early development but abnormal when elicited in later life or persist beyond childhood. Soft signs also, have no definitive localizing significance but are indicative of subtle brain dysfunction. Most authors believe that they are a reflection not only of deficient integration between the sensory and motor systems, but also of dysfunctional neuronal circuits linking subcortical brain structures such as the basal ganglia, the brain stem, and the limbic system. Throughout the last four decades, studies have consistently shown that NSS are more frequently present in patients with schizophrenia than in normal subjects and non-psychotic psychiatric patients. However, the functional relevance of NSS remains unclear and their specificity has often been challenged, even though there is indication for a relative specificity with regard to diagnosis, or symptomatology. Many studies have considered soft signs as categorical variables thus hampering the evaluation of fluctuation with symptomatology and/or treatment, whereas other studies included insufficient number of assessed signs, or lacked a comprehensive assessment of
Kempster, Peter A; Lees, Andrew J
When searching for clues to reach a diagnosis, neurologists often empathise with the detective who is trying to solve a case. The premise of this article is that detective stories have been part of the fabric of neurology ever since the time that it evolved into a discrete medical speciality. We will examine how this form of narrative has found expression in detective mystery fiction and popular science publications created by 20th century neurologist physician-writers. We will also investigate the power of the neurologist's alter ego, Sherlock Holmes: his relationship to founders of clinical neuroscience such as Jean-Martin Charcot, William Gowers and Sigmund Freud, and his influences on neurological practice and its literary traditions.
Punj, Pragya; Nattanmai, Premkumar; George, Pravin
In neurologically injured patients, predictors for extubation success are not well defined. Abnormal breathing patterns may result from the underlying neurological injury. We present three patients with abnormal breathing patterns highlighting failure of successful extubation as a result of these neurologically driven breathing patterns. Recognizing abnormal breathing patterns may be predictive of extubation failure and thus need to be considered as part of extubation readiness. PMID:28348899
Riechers, Ronald George; Wang, Xiao-Feng; Piero, Traci; Ruff, Suzanne Smith
Background Mild traumatic brain injury (mTBI) is a common injury among military personnel serving in Iraq or Afghanistan. The impact of repeated episodes of combat mTBI is unknown. Objective To evaluate relationships among mTBI, post-traumatic stress disorder (PTSD) and neurological deficits (NDs) in US veterans who served in Iraq or Afghanistan. Methods This was a case–control study. From 2091 veterans screened for traumatic brain injury, the authors studied 126 who sustained mTBI with one or more episodes of loss of consciousness (LOC) in combat. Comparison groups: 21 combat veterans who had definite or possible episodes of mTBI without LOC and 21 veterans who sustained mTBI with LOC as civilians. Results Among combat veterans with mTBI, 52% had NDs, 66% had PTSD and 50% had PTSD and an ND. Impaired olfaction was the most common ND, found in 65 veterans. The prevalence of an ND or PTSD correlated with the number of mTBI exposures with LOC. The prevalence of an ND or PTSD was >90% for more than five episodes of LOC. Severity of PTSD and impairment of olfaction increased with number of LOC episodes. The prevalence of an ND for the 34 combat veterans with one episode of LOC (4/34=11.8%) was similar to that of the 21 veterans of similar age and educational background who sustained civilian mTBI with one episode of LOC (2/21=9.5%, p-NS). Conclusions Impaired olfaction was the most frequently recognised ND. Repeated episodes of combat mTBI were associated with increased likelihood of PTSD and an ND. Combat setting may not increase the likelihood of an ND. Two possible connections between mTBI and PTSD are (1) that circumstances leading to combat mTBI likely involve severe psychological trauma and (2) that altered cerebral functioning following mTBI may increase the likelihood that a traumatic event results in PTSD. PMID:22431700
Beau's lines; Fingernail abnormalities; Spoon nails; Onycholysis; Leukonychia; Koilonychia; Brittle nails ... 2012:chap 71. Zaiac MN, Walker A. Nail abnormalities associated with systemic pathologies. Clin Dermatol . 2013;31: ...
Stöllberger, Claudia; Wegner, Christian; Finsterer, Josef
Background and Objective: Little is known about the general indications for echocardiography and the prevalence of abnormalities detected by echocardiography in patients who are referred from a neurological department. Left ventricular hypertrabeculation/noncompaction (LVHT) is associated with neuromuscular disorders and embolism. The aim of the study was to assess the indications for echocardiography in patients from a neurological department and to review the cine-loops of the examinations in order to assess the frequency of abnormal echocardiographic findings with special regard to LVHT. Methods and Results: Included were 126 patients, 58 females (mean age 65 years). Indications were stroke (84%), heart failure (6%), endocarditis (6%) and arrhythmia (3%). The most frequent abnormalities were impaired relaxation (71%) and left ventricular wall thickening (63%). Females were older (68 vs. 62 years, p = 0.0214) and more frequently had normally sized left ventricles than males (98 vs. 88%, p = 0.0376). Patients ≥66 years more frequently had stroke as an indication (91 vs. 77%, p = 0.05), showed a thickened myocardium (72 vs. 53%, p = 0.0272), valvular abnormalities (52 vs. 13%, p = 0.0000) and impaired relaxation (86 vs. 54%, p = 0.0001) than patients <66 years. LVHT was diagnosed in 3 patients; in one of them the diagnosis was already known. In 45% LVHT and in 38% left ventricular thrombus could neither be excluded nor established since the image quality was poor. Conclusion: Care should be taken to visualize the left ventricular apical regions when investigating patients referred from a neurologic department in order not to overlook LVHT and thrombi within the left ventricular apex.
Suwanlaong, Kanokrat; Phanthumchinda, Kammant
Methyl bromide is a highly toxic gas with poor olfactory warning properties. It is widely used as insecticidal fumigant for dry foodstuffs and can be toxic to central and peripheral nervous systems. Most neurological manifestations of methyl bromide intoxication occur from inhalation. Acute toxicity characterized by headache, dizziness, abdominal pain, nausea, vomiting and visual disturbances. Tremor, convulsion, unconsciousness and permanent brain damage may occur in severe poisoning. Chronic exposure can cause neuropathy, pyramidal and cerebellar dysfunction, as well as neuropsychiatric disturbances. The first case of methyl bromide intoxication in Thailand has been described. The patient was a 24-year-old man who worked in a warehouse of imported vegetables fumigated with methyl bromide. He presented with unstable gait, vertigo and paresthesia of both feet, for two weeks. He had a history of chronic exposure to methyl bromide for three years. His fourteen co-workers also developed the same symptoms but less in severity. Neurological examination revealed ataxic gait, decreased pain and vibratory sense on both feet, impaired cerebellar signs and hyperactive reflex in all extremities. The serum concentration of methyl bromide was 8.18 mg/dl. Electrophysilogical study was normal. Magnetic resonance imaging of the brain (MRI) revealed bilateral symmetrical lesion of abnormal hypersignal intensity on T2 and fluid-attenuation inversion recovery (FLAIR) sequences at bilateral dentate nuclei of cerebellum and periventricular area of the fourth ventricle. This incident stresses the need for improvement of worker education and safety precautions during all stages of methyl bromide fumigation.
de Souza, Aaron; Narvencar, Kedareshwar P S; Sindhoora, K V
Used primarily as a fumigant or as a substrate in chemical processes, methyl bromide is a highly toxic gas. The gas is usually absorbed by inhalation and effects on the lungs, gastrointestinal tract, skin, and brain are seen. Numerous instances of acute and chronic neurologic injury have been reported: acute poisoning results in seizures, myoclonus, ataxia or cerebral oedema beginning as early as 30 min after exposure while subacute or chronic intoxication presents with diverse slowly progressive neurological and neurobehavioral symptoms. Serum bromide levels may be elevated, but often return rapidly to normal. Electroencephalography may show frontally-predominant slow waves or polyspikes with following slow wave, and MRI reveals characteristic involvement in the dentate nucleus of the cerebellum, the brainstem, and the splenium of the corpus callosum. Symmetric and selective lesions in characteristic sites are observed on imaging and on histopathological examination. These are likely produced by methylation of intracellular lipids, protein and glutathione; production of toxic metabolites; defective neurotransmitter function; and abnormal oxidative phosphorylation. This article reviews the toxic effects of this gas, the pathophysiology and symptoms of its effects on the nervous system, and characteristic findings on MRI; and presents an illustrative case of methyl bromide intoxication due to exposure at a factory producing the compound commercially.
McDonnell, J J; Platt, S R; Clayton, L A
Animals presented with non-weight-bearing lameness are a diagnostic challenge for the veterinarian. It is extremely important to distinguish between orthopedic and neurologic causes of lameness, because the diagnostic and therapeutic plans can be quite different. Myopathies can be confused with orthopedic disease because of gait abnormalities and associated muscle pain. Common myopathies seen in companion animal medicine include polymyositis, muscular dystrophy, endocrine and infectious myopathies, and myasthenia gravis. Lameness caused by disease of the nerve root or nerve is confused with orthopedic disease because of the disturbances of a nerve's sensory distribution (nerve-root signature) or disruption of the motor innervation. The diseases of the nerve root or nerve discussed are lateralized intervertebral disk disease, spinal cord neoplasia, malignant peripheral nerve sheath tumors, and traumatic neuropathies. The diagnosis of these diseases requires careful attention to the signalment, a complete history, and a thorough physical examination focusing on the neurologic and orthopedic components. Ancillary testing should be selected based on these results and a minimum database. Electrodiagnostic testing, radiography, and advanced imaging may help to localize the lesion more precisely and sometimes to confirm the diagnosis. Surgical exploration and histopathology often provide the definitive diagnosis. These cases of non-weight-bearing lameness are a diagnostic challenge, but when successful resolution can be reached, it is gratifying to the clinician, client, and patient.
Westbroek, Wendy; Cullinane, Andrew R.; Groden, Catherine A.; Bhambhani, Vikas; Golas, Gretchen A.; Baker, Eva H.; Lehky, Tanya J.; Snow, Joseph; Ziegler, Shira G.; Adams, David R.; Dorward, Heidi M.; Hess, Richard A.; Huizing, Marjan; Gahl, William A.; Toro, Camilo
Objective: To delineate the developmental and progressive neurodegenerative features in 9 young adults with the atypical form of Chediak-Higashi disease (CHD) enrolled in a natural history study. Methods: Patients with atypical clinical features, but diagnostically confirmed CHD by standard evaluation of blood smears and molecular genotyping, underwent complete neurologic evaluation, MRI of the brain, electrophysiologic examination, and neuropsychological testing. Fibroblasts were collected to investigate the cellular phenotype and correlation with the clinical presentation. Results: In 9 mildly affected patients with CHD, we documented learning and behavioral difficulties along with developmental structural abnormalities of the cerebellum and posterior fossa, which are apparent early in childhood. A range of progressive neurologic problems emerge in early adulthood, including cerebellar deficits, polyneuropathies, spasticity, cognitive decline, and parkinsonism. Conclusions: Patients with undiagnosed atypical CHD manifesting some of these wide-ranging yet nonspecific neurologic complaints may reside in general and specialty neurology clinics. The absence of the typical bleeding or infectious diathesis in mildly affected patients with CHD renders them difficult to diagnose. Identification of these individuals is important not only for close surveillance of potential CHD-related systemic complications but also for a full understanding of the natural history of CHD and the potential role of the disease-causing protein, LYST, to the pathophysiology of other neurodevelopmental and neurodegenerative disorders. PMID:26944273
Ciguatera is a widespread ichthyosarcotoxaemia with dramatic and clinically important neurological features. This severe form of fish poisoning may present with either acute or chronic intoxication syndromes and constitutes a global health problem. Ciguatera poisoning is little known in temperate countries as a potentially global problem associated with human ingestion of large carnivorous fish that harbour the bioaccumulated ciguatoxins of the photosynthetic dinoflagellate Gambierdiscus toxicus. This neurotoxin is stored in the viscera of fish that have eaten the dinoflagellate and concentrated it upwards throughout the food chain towards progressively larger species, including humans. Ciguatoxin accumulates in all fish tissues, especially the liver and viscera, of "at risk" species. Both Pacific (P-CTX-1) and Caribbean (C-CTX-1) ciguatoxins are heat stable polyether toxins and pose a health risk at concentrations above 0.1 ppb. The presenting signs of ciguatera are primarily neurotoxic in more than 80% of cases. Such include the pathognomonic features of postingestion paraesthesiae, dysaesthesiae, and heightened nociperception. Other sensory abnormalities include the subjective features of metallic taste, pruritus, arthralgia, myalgia, and dental pain. Cerebellar dysfunction, sometimes diphasic, and weakness due to both neuropathy and polymyositis may be encountered. Autonomic dysfunction leads to hypotension, bradycardia, and hypersalivation in severe cases. Ciguatoxins are potent, lipophilic sodium channel activator toxins which bind to the voltage sensitive (site 5) sodium channel on the cell membranes of all excitable tissues. Treatment depends on early diagnosis and the early administration of intravenous mannitol. The early identification of the neurological features in sentinel patients has the potential to reduce the number of secondary cases in cluster outbreaks.
Ciguatera is a widespread ichthyosarcotoxaemia with dramatic and clinically important neurological features. This severe form of fish poisoning may present with either acute or chronic intoxication syndromes and constitutes a global health problem. Ciguatera poisoning is little known in temperate countries as a potentially global problem associated with human ingestion of large carnivorous fish that harbour the bioaccumulated ciguatoxins of the photosynthetic dinoflagellate Gambierdiscus toxicus. This neurotoxin is stored in the viscera of fish that have eaten the dinoflagellate and concentrated it upwards throughout the food chain towards progressively larger species, including humans. Ciguatoxin accumulates in all fish tissues, especially the liver and viscera, of "at risk" species. Both Pacific (P-CTX-1) and Caribbean (C-CTX-1) ciguatoxins are heat stable polyether toxins and pose a health risk at concentrations above 0.1 ppb. The presenting signs of ciguatera are primarily neurotoxic in more than 80% of cases. Such include the pathognomonic features of postingestion paraesthesiae, dysaesthesiae, and heightened nociperception. Other sensory abnormalities include the subjective features of metallic taste, pruritis, arthralgia, myalgia, and dental pain. Cerebellar dysfunction, sometimes diphasic, and weakness due to both neuropathy and polymyositis may be encountered. Autonomic dysfunction leads to hypotension, bradycardia, and hypersalivation in severe cases. Ciguatoxins are potent, lipophilic sodium channel activator toxins which bind to the voltage sensitive (site 5) sodium channel on the cell membranes of all excitable tissues. Treatment depends on early diagnosis and the early administration of intravenous mannitol. The early identification of the neurological features in sentinel patients has the potential to reduce the number of secondary cases in cluster outbreaks. PMID:11118239
Steinman, Kyle J; Spence, Sarah J; Ramocki, Melissa B; Proud, Monica B; Kessler, Sudha K; Marco, Elysa J; Green Snyder, LeeAnne; D'Angelo, Debra; Chen, Qixuan; Chung, Wendy K; Sherr, Elliott H
Chromosome 16p11.2 deletions and duplications are among the most frequent genetic etiologies of autism spectrum disorder (ASD) and other neurodevelopmental disorders, but detailed descriptions of their neurologic phenotypes have not yet been completed. We utilized standardized examination and history methods to characterize a neurologic phenotype in 136 carriers of 16p11.2 deletion and 110 carriers of 16p11.2 duplication-the largest cohort to date of uniformly and comprehensively characterized individuals with the same 16p copy number variants (CNVs). The 16p11.2 deletion neurologic phenotype is characterized by highly prevalent speech articulation abnormalities, limb and trunk hypotonia with hyporeflexia, abnormalities of agility, sacral dimples, seizures/epilepsy, large head size/macrocephaly, and Chiari I/cerebellar tonsillar ectopia. Speech articulation abnormalities, hypotonia, abnormal agility, sacral dimples, and seizures/epilepsy are also seen in duplication carriers, along with more prominent hyperreflexia; less, though still prevalent, hyporeflexia; highly prevalent action tremor; small head size/microcephaly; and cerebral white matter/corpus callosum abnormalities and ventricular enlargement. The neurologic phenotypes of these reciprocal 16p11.2 CNVs include both shared and distinct features. Reciprocal phenotypic characteristics of predominant hypo- versus hyperreflexia and macro- versus microcephaly may reflect opposite neurobiological abnormalities with converging effects causing the functional impairments shared between 16p11.2 deletion and duplication carriers (i.e., abnormal motor agility and articulation). While the phenotypes exhibit overlap with other genetically-caused neurodevelopmental disorders, clinicians should be aware of the more striking features-such as the speech and motor impairments, growth abnormalities, tremor, and sacral dimples-when evaluating individuals with developmental delay, intellectual disability, ASD, and/or language
Kim, Seung; Koh, Hong; Lee, Joon Soo
Background/Aims Neurologically impaired patients frequently suffer from gastrointestinal tract problems, such as gastroesophageal reflux disease (GERD). In this study, we aimed to define the risk factors for GERD in neurologically impaired children. Methods From May 2006 to March 2014, 101 neurologically impaired children who received 24-hour esophageal pH monitoring at Severance Children’s Hospital were enrolled in the study. The esophageal pH finding and the clinical characteristics of the patients were analyzed. Results The reflux index was higher in patients with abnormal electroencephalography (EEG) results than in those with normal EEG results (p=0.027). Mitochondrial disease was associated with a higher reflux index than were epileptic disorders or cerebral palsy (p=0.009). Patient gender, feeding method, scoliosis, tracheostomy, and baclofen use did not lead to statistical differences in reflux index. Age of onset of neurological impairment was inversely correlated with DeMeester score and reflux index. Age at the time of examination, the duration of the disease, and the number of antiepileptic drugs were not correlated with GER severity. Conclusions Early-onset neurological impairment, abnormal EEG results, and mitochondrial disease are risk factors for severe GERD. PMID:27840365
Breitenfeld, T; Jurasic, M J; Breitenfeld, D
Hippocrates is one of the most influential medical doctors of all times. He started observing and experimenting in times of mysticism and magic. He carried a holistic and humanitarian approach to the patient with examination as the principal approach-inspection, palpation and auscultation are still the most important tools in diagnosing algorithms of today. He had immense experience with the human body most likely due to numerous wound treatments he had performed; some even believe he performed autopsies despite the negative trend at the time. Hippocrates identified the brain as the analyst of the outside world, the interpreter of consciousness and the center of intelligence and willpower. Interestingly, Hippocrates was aware of many valid concepts in neurology; his treatise On the Sacred Disease was the most important for understanding neurology and epilepsy. His other ideas pioneered modern day neurology mentioning neurological diseases like apoplexy, spondylitis, hemiplegia, and paraplegia. Today, 10 % of neurological Pubmed and 7 % of neuroscience Scopus reviews mention Corpus Hippocraticum as one of the sources. Therefore, Hippocrates may be considered as the forefather of neurology.
Haataja, L.; Mercuri, E.; Cowan, F.; Dubowitz, L.
OBJECTIVE—To investigate whether cranial ultrasound abnormalities found in low risk full term infants had any influence on neurodevelopmental outcome. METHODS—For 103 infants who had a neurological assessment, a cranial ultrasound examination, and for whom antenatal and perinatal data were collected within 48 hours of delivery, neurodevelopmental status was evaluated at 12 and 18 months. The results of a scored neurological examination and the Griffiths mental developmental scale were correlated with the presence and type of ultrasound abnormality found in the neonatal period. RESULTS—None of the infants with ultrasound abnormalities showed any signs of cerebral palsy or severe developmental delay. There was also no significant difference between the overall neurological and neurodevelopmental scores of the infants with normal and abnormal ultrasound findings. However, when the individual subscales of the Griffiths test were analysed, all infants with bulky choroid or intraventricular haemorrhage had normal scores in all subscales, four of eight with periventricular white matter lesions had low scores on the locomotor subscale, and three of five with asymmetrical ventricles had low scores on the performance subscale. The presence of adverse antenatal and perinatal factors did not affect the outcome in this group. CONCLUSION—Incidental ultrasound abnormality in full term neonates, in particular intraventricular haemorrhage, although common, appear to have a good prognosis. Longer follow up studies are needed to see whether some of these infants, in particular those with white matter lesions, develop dyspraxia or other minor neurological impairments at school age. PMID:10685986
Shi, Fu-Dong; Jia, Jian-Ping
In the wake of dramatic economic success during the past 2 decades, the specialized field of neurology has undergone a significant transformation in China. With an increase in life expectancy, the problems of aging and cognition have grown. Lifestyle alterations have been associated with an epidemiologic transition both in the incidence and etiology of stroke. These changes, together with an array of social issues and institution of health care reform, are creating challenges for practicing neurologists throughout China. Notable problems include overcrowded, decrepit facilities, overloaded physician schedules, deteriorating physician-patient relationships, and an insufficient infrastructure to accommodate patients who need specialized neurologic care. Conversely, with the creation of large and sophisticated neurology centers in many cities across the country, tremendous opportunities exist. Developments in neurologic subspecialties enable delivery of high-quality care. Clinical and translational research based on large patient populations as well as highly sophisticated technologies are emerging in many neurologic centers and pharmaceutical companies. Child neurology and neurorehabilitation will be fast-developing subdisciplines. Given China's extensive population, the growth and progress of its neurology complex, and its ever-improving quality control, it is reasonable to anticipate that Chinese neurologists will contribute notably to unraveling the pathogenic factors causing neurologic diseases and to providing new therapeutic solutions.
Chapter 19, describes meiotic abnormalities. These include nondisjunction of autosomes and sex chromosomes, genetic and environmental causes of nondisjunction, misdivision of the centromere, chromosomally abnormal human sperm, male infertility, parental age, and origin of diploid gametes. 57 refs., 2 figs., 1 tab.
Hartlage, Patricia L.; Hartlage, Lawrence C.
This study investigated the relationships between 19 neurological abnormalities in school children and measures of school performance in reading, math, and nonacademic classroom behaviors. The sample of 45 children was given a standardized achievement test and the Draw-a-Person instrument to obtain academic variables. Nonacademic behaviors…
William Richard Gowers is one of the great pioneers in neurology and the author of the well-known neurology textbook, "A Manual of Diseases of the Nervous System." His concepts of neurology are based on meticulously and carefully accumulated knowledge of history, observations, and neurological examinations of patients with various neurological diseases. He is not only a great neurologist but also a great teacher who loves teaching students and physicians through well-prepared lectures. We can glean the essence of the field of neurology through his life story and numerous writings concerning neurological diseases.
Manion, Patrick J.
The experimental control of the sea lamprey (Petromyzon marinus) in the Great Lakes has required the collection of thousands of lampreys. Representatives of each life stage of the four species of the Lake Superior basin were examined for structural abnormalities. The most common aberration was the presence of additional tails. The accessory tails were always postanal and smaller than the normal tail. The point of origin varied; the extra tails occurred on dorsal, ventral, or lateral surfaces. Some of the extra tails were misshaped and curled, but others were normal in shape and pigment pattern. Other abnormalities in larval sea lampreys were malformed or twisted tails and bodies. The cause of the structural abnormalities is unknown. The presence of extra caudal fins could be genetically controlled, or be due to partial amputation or injury followed by abnormal regeneration. Few if any lampreys with structural abnormalities live to sexual maturity.
Urbán, Edina; Szél, István; Fáy, Veronika; Dénes, Zoltán; Lippai, Zoltán; Fazekas, Gábor
We have read several publications of great authority on the neurological profession in the last two years in which were expressed assessments of the current situation combined with opinions about neurology and the necessity to reorganize neurological patient care. These articles took up the question of neurorehabilitation too. The authors, who on a daily basis, deal with the rehabilitation of people with disabilities as a consequence of neurological conditions, summarize some important definitions of rehabilitation medicine and the present system of neurological rehabilitation, as it is defined by the rehabilitation profession.
So-called abnormal pressures, subsurface fluid pressures significantly higher or lower than hydrostatic, have excited speculation about their origin since subsurface exploration first encountered them. Two distinct conceptual models for abnormal pressures have gained currency among earth scientists. The static model sees abnormal pressures generally as relict features preserved by a virtual absence of fluid flow over geologic time. The hydrodynamic model instead envisions abnormal pressures as phenomena in which flow usually plays an important role. This paper develops the theoretical framework for abnormal pressures as hydrodynamic phenomena, shows that it explains the manifold occurrences of abnormal pressures, and examines the implications of this approach. -from Author
Millman, Alexander J.; Finelli, Lyn; Bramley, Anna M.; Peacock, Georgina; Williams, Derek J.; Arnold, Sandra R.; Grijalva, Carlos G.; Anderson, Evan J.; McCullers, Jonathan A.; Ampofo, Krow; Pavia, Andrew T.; Edwards, Kathryn M.; Jain, Seema
Objective To describe and compare the clinical characteristics, outcomes, and etiology of pneumonia among children hospitalized with community-acquired pneumonia (CAP) with neurologic disorders, non-neurologic underlying conditions, and no underlying conditions. Study design Children <18 years old hospitalized with clinical and radiographic CAP were enrolled at 3 US children’s hospitals. Neurologic disorders included cerebral palsy, developmental delay, Down syndrome, epilepsy, non-Down syndrome chromosomal abnormalities, and spinal cord abnormalities. We compared the epidemiology, etiology, and clinical outcomes of CAP in children with neurologic disorders with those with non-neurologic underlying conditions, and those with no underlying conditions using bivariate, age-stratified, and multivariate logistic regression analyses. Results From January 2010–June 2012, 2358 children with radiographically confirmed CAP were enrolled; 280 (11.9%) had a neurologic disorder (52.1% of these individuals also had non-neurologic underlying conditions), 934 (39.6%) had non-neurologic underlying conditions only, and 1144 (48.5%) had no underlying conditions. Children with neurologic disorders were older and more likely to require intensive care unit (ICU) admission than children with non-neurologic underlying conditions and children with no underlying conditions; similar proportions were mechanically ventilated. In age-stratified analysis, children with neurologic disorders were less likely to have a pathogen detected than children with non-neurologic underlying conditions. In multivariate analysis, having a neurologic disorder was associated with ICU admission for children ≥2 years of age. Conclusions Children with neurologic disorders hospitalized with CAP were less likely to have a pathogen detected and more likely to be admitted to the ICU than children without neurologic disorders. PMID:27017483
Robles Bayón, A; Gude Sampedro, F
Behavioural and psychiatric symptoms (BPS) are frequent in neurological patients, contribute to disability, and decrease quality of life. We recorded BPS prevalence and type, as well as any associations with specific diagnoses, brain regions, and treatments, in consecutive outpatients examined in a cognitive neurology clinic.
Crossley, Nicolas A.; Scott, Jessica; Ellison-Wright, Ian; Mechelli, Andrea
Background It is unclear to what extent the traditional distinction between neurological and psychiatric disorders reflects biological differences. Aims To examine neuroimaging evidence for the distinction between neurological and psychiatric disorders. Method We performed an activation likelihood estimation meta-analysis on voxel-based morphometry studies reporting decreased grey matter in 14 neurological and 10 psychiatric disorders, and compared the regional and network-level alterations for these two classes of disease. In addition, we estimated neuroanatomical heterogeneity within and between the two classes. Results Basal ganglia, insula, sensorimotor and temporal cortex showed greater impairment in neurological disorders; whereas cingulate, medial frontal, superior frontal and occipital cortex showed greater impairment in psychiatric disorders. The two classes of disorders affected distinct functional networks. Similarity within classes was higher than between classes; furthermore, similarity within class was higher for neurological than psychiatric disorders. Conclusions From a neuroimaging perspective, neurological and psychiatric disorders represent two distinct classes of disorders. PMID:26045351
Jiménez, M D
The specialist health assistance service book (SB) is the development of a clinical health product directed to the general population. The main objectives are: the offer of a clinical health product or to look for new offers, the evaluation or accreditation of neurological departments, the management of neurological departments, the SB presentation to main skateholder (patients, doctors, managers) and finally to inform patients of the neurological products through health resources map, that allowed them to use it. The SB includes emergency, inpatient and outpatient neurological services, and also specific diagnostic and treatment neurological procedures. In a few departments there will be also clinical units directed to specific neurological diseases or processes. It is important to develop the neurological SB in every department because it can satisfy the patients needs, and allow us to adapt quickly to our changing health reality.
Sejvar, James; Lutterloh, Emily; Naiene, Jeremias; Likaka, Andrew; Manda, Robert; Nygren, Benjamin; Monroe, Stephan; Khaila, Tadala; Lowther, Sara A.; Capewell, Linda; Date, Kashmira; Townes, David; Redwood, Yanique; Schier, Joshua; Barr, Beth Tippett; Demby, Austin; Mallewa, Macpherson; Kampondeni, Sam; Blount, Ben; Humphrys, Michael; Talkington, Deborah; Armstrong, Gregory L.; Mintz, Eric
Background The bacterium Salmonella enterica serovar Typhi causes typhoid fever, which is typically associated with fever and abdominal pain. An outbreak of typhoid fever in Malawi-Mozambique in 2009 was notable for a high proportion of neurologic illness. Objective Describe neurologic features complicating typhoid fever during an outbreak in Malawi-Mozambique Methods Persons meeting a clinical case definition were identified through surveillance, with laboratory confirmation of typhoid by antibody testing or blood/stool culture. We gathered demographic and clinical information, examined patients, and evaluated a subset of patients 11 months after onset. A sample of persons with and without neurologic signs was tested for vitamin B6 and B12 levels and urinary thiocyanate. Results Between March – November 2009, 303 cases of typhoid fever were identified. Forty (13%) persons had objective neurologic findings, including 14 confirmed by culture/serology; 27 (68%) were hospitalized, and 5 (13%) died. Seventeen (43%) had a constellation of upper motor neuron findings, including hyperreflexia, spasticity, or sustained ankle clonus. Other neurologic features included ataxia (22, 55%), parkinsonism (8, 20%), and tremors (4, 10%). Brain MRI of 3 (ages 5, 7, and 18 years) demonstrated cerebral atrophy but no other abnormalities. Of 13 patients re-evaluated 11 months later, 11 recovered completely, and 2 had persistent hyperreflexia and ataxia. Vitamin B6 levels were markedly low in typhoid fever patients both with and without neurologic signs. Conclusions Neurologic signs may complicate typhoid fever, and the diagnosis should be considered in persons with acute febrile neurologic illness in endemic areas. PMID:23226492
Brau, R H; García-Castiñeiras, S; Rifkinson, N
The ascorbic acid/dehydroascorbic acid system was analyzed in the cerebrospinal fluid (CSF) of 41 patients with different neurological disorders. The chi-square test of covariance analysis revealed in this sample significant differences in the CSF levels of total ascorbic acid when patients were classified by diagnostic categories. The population analyzed contained a group of 18 patients (back pain/sciatica group) in whom no overt neurological abnormalities were disclosed upon evaluation. Taking the CSF levels of total ascorbic acid and dehydroascorbic acid in these patients as the reference (3.57 +/- 0.87 (SD)/100 ml and 0.53 +/- 0.19 mg/100 ml, respectively), it was found that head-traumatized patients showed a significant reduction in the concentration of total ascorbic acid in the CSF. CSF ascorbic acid levels were also significantly lower in patients with increased intracranial pressure (noninfected hydrocephalus group) and in patients with cerebral tumors. Although the CSF concentration of dehydroascorbic acid did not correspondingly increase over the reference values in these three groups of patients, the tendency existed for dehydroascorbic acid to represent in them a higher percentage of total ascorbic acid. After examining different alternatives, it is concluded that the hypothesis of free radical damage to the central nervous system after certain types of injury (trauma, ischemia, and tumors) may provide a satisfactory explanation of our findings. A rationale for the use of vitamin C in the management of some neurological patients is also derived from this work.
Girish, K.; Gangadhar, B.N.; Janakiramaiah, N.
It is a myth that electroconvulsive therapy (ECT) produces greater side effects and worsens the neurological condition when used in neurologically ill patients. With the advancement and sophistication in ECT practice standards and modification procedures, it can be safely administered either to treat selected neurological conditions or the co-morbid psychiatric illnesses without additional risks. However ECT should be administered only after thorough evaluation of risks and benefits in such individuals. PMID:21206577
Probasco, John; Sahin, Bogachan; Tran, Tung; Chung, Tae Hwan; Rosenthal, Liana Shapiro; Mari, Zoltan; Levy, Michael
Neurological diseases are prevalent in the general population, and the neurohospitalist has an important role to play in the preoperative planning for patients with and at risk for developing neurological disease. The neurohospitalist can provide patients and their families as well as anesthesiologists, surgeons, hospitalists, and other providers guidance in particular to the patient’s neurological disease and those he or she is at risk for. Here we present considerations and guidance for the neurohospitalist providing preoperative consultation for the neurological patient with or at risk of disturbances of consciousness, cerebrovascular and carotid disease, epilepsy, neuromuscular disease, and Parkinson disease. PMID:24198903
Gabig, T G
Certain qualitative abnormalities in neutrophils and blood monocytes are associated with frequent, severe, and recurrent bacterial infections leading to fatal sepsis, while other qualitative defects demonstrated in vitro may have few or no clinical sequelae. These qualitative defects are discussed in terms of the specific functions of locomotion, phagocytosis, degranulation, and bacterial killing.
William Shakespeare's 37 plays and poetry contain many references of interest for almost all of the medical specialties. To support that the Bard could be considered a Renaissance neurologist, the following important neurological phenomena have been selected from his repertoire for discussion: tremors, paralysis and stroke, sleep disturbances, epilepsy, dementia, encephalopathies, and the neurology of syphilis.
Piber, D; Hinkelmann, K; Gold, S M; Heesen, C; Spitzer, C; Endres, M; Otte, C
In many neurological diseases a depressive syndrome is a characteristic sign of the primary disease or is an important comorbidity. Post-stroke depression, for example, is a common and relevant complication following ischemic brain infarction. Approximately 4 out of every 10 stroke patients develop depressive disorders in the course of the disease which have a disadvantageous effect on the course and the prognosis. On the other hand depression is also a risk factor for certain neurological diseases as was recently demonstrated in a meta-analysis of prospective cohort studies which revealed a much higher stroke risk for depressive patients. Furthermore, depression plays an important role in other neurological diseases with respect to the course and quality of life, such as Parkinson's disease, multiple sclerosis and epilepsy. This article gives a review of the most important epidemiological, pathophysiological and therapeutic aspects of depressive disorders as a comorbidity of neurological diseases and as a risk factor for neurological diseases.
Norton, J W; Corbett, J J
Visual perceptual abnormalities may be caused by diverse etiologies which span the fields of psychiatry and neurology. This article reviews the differential diagnosis of visual perceptual abnormalities from both a neurological and a psychiatric perspective. Psychiatric etiologies include mania, depression, substance dependence, and schizophrenia. Common neurological causes include migraine, epilepsy, delirium, dementia, tumor, and stroke. The phenomena of palinopsia, oscillopsia, dysmetropsia, and polyopia among others are also reviewed. A systematic approach to the many causes of illusions and hallucinations may help to achieve an accurate diagnosis, and a more focused evaluation and treatment plan for patients who develop visual perceptual abnormalities. This article provides the practicing neurologist with a practical understanding and approach to patients with these clinical symptoms.
Finsterer, Josef; Stöllberger, Claudia; Wahbi, Karim
According to the American Heart Association, cardiomyopathies are classified as primary (solely or predominantly confined to heart muscle), secondary (those showing pathological myocardial involvement as part of a neuromuscular disorder) and those in which cardiomyopathy is the first/predominant manifestation of a neuromuscular disorder. Cardiomyopathies may be further classified as hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, or unclassified cardiomyopathy (noncompaction, Takotsubo-cardiomyopathy). This review focuses on secondary cardiomyopathies and those in which cardiomyopathy is the predominant manifestation of a myopathy. Any of them may cause neurological disease, and any of them may be a manifestation of a neurological disorder. Neurological disease most frequently caused by cardiomyopathies is ischemic stroke, followed by transitory ischemic attack, syncope, or vertigo. Neurological disease, which most frequently manifests with cardiomyopathies are the neuromuscular disorders. Most commonly associated with cardiomyopathies are muscular dystrophies, myofibrillar myopathies, congenital myopathies and metabolic myopathies. Management of neurological disease caused by cardiomyopathies is not at variance from the same neurological disorders due to other causes. Management of secondary cardiomyopathies is not different from that of cardiomyopathies due to other causes either. Patients with neuromuscular disorders require early cardiologic investigations and close follow-ups, patients with cardiomyopathies require neurological investigation and avoidance of muscle toxic medication if a neuromuscular disorder is diagnosed. Which patients with cardiomyopathy profit most from primary stroke prevention is unsolved and requires further investigations.
Provinciali, Leandro; Tarquini, Daniela; De Falco, Fabrizio A; Carlini, Giulia; Zappia, Mario; Toni, Danilo
Palliative care in neurology is characterized by the need of taking into account some distinguishing features which supplement and often differ from the general palliative approach to cancer or to severe organ failures. Such position is emphasized by a new concept of palliative assistance which is not limited to the "end of life" stage, as it was the traditional one, but is applied along the entire course of progressive, life-limiting, and disabling conditions. There are various reasons accounting for a differentiation of palliative care in neurology and for the development of specific expertise; the long duration of the advanced stages of many neurological diseases and the distinguishing features of some clinical problems (cognitive disorders, psychic disorders, etc.), in addition to the deterioration of some general aspects (nutrition, etc.), make the general criteria adopted for cancer, severe respiratory, hepatic or renal failures and heart failure inadequate. The neurological diseases which could benefit from the development of a specific palliative approach are dementia, cerebrovascular diseases, movement disorders, neuromuscular diseases, severe traumatic brain injury, brain cancers and multiple sclerosis, as well as less frequent conditions. The growing literature on palliative care in neurology provides evidence of the neurological community's increasing interest in taking care of the advanced and terminal stages of nervous system diseases, thus encouraging research, training and updating in such direction. This document aims to underline the specific neurological requirements concerning the palliative assistance.
Miravalle, Augusto A; Schreiner, Teri
This chapter reviews the most common neurologic disorders associated with common vaccines, evaluates the data linking the disorder with the vaccine, and discusses the potential mechanism of disease. A literature search was conducted in PubMed using a combination of the following terms: vaccines, vaccination, immunization, and neurologic complications. Data were also gathered from publications of the American Academy of Pediatrics Committee on Infectious Diseases, the World Health Organization, the US Centers for Disease Control and Prevention, and the Vaccine Adverse Event Reporting System. Neurologic complications of vaccination are rare. Many associations have been asserted without objective data to support a causal relationship. Rarely, patients with a neurologic complication will have a poor outcome. However, most patients recover fully from the neurologic complication. Vaccinations have altered the landscape of infectious disease. However, perception of risk associated with vaccinations has limited the success of disease eradication measures. Neurologic complications can be severe, and can provoke fear in potential vaccines. Evaluating whether there is causal link between neurologic disorders and vaccinations, not just temporal association, is critical to addressing public misperception of risk of vaccination. Among the vaccines available today, the cost-benefit analysis of vaccinations and complications strongly argues in favor of vaccination.
Paciaroni, Maurizio; Bogousslavsky, Julien
Many of Shakespeare's plays contain characters who appear to be afflicted by neurological or psychiatric disorders. Shakespeare, in his descriptive analysis of his protagonists, was contributing to the understanding of these disorders. In fact, Charcot frequently used Shakespearean references in his neurological teaching sessions, stressing how acute objective insight is essential to achieving expert clinical diagnosis. Charcot found in Shakespeare the same rigorous observational techniques for which he himself became famous. This chapter describes many of Shakespearean characters suffering from varied neurological disorders, including Parkinsonism, epilepsy, sleeping disturbances, dementia, headache, prion disease, and paralyses.
Perlmutter, J.S.; Raichle, M.E.
We present a patient with hemidystonia and an abnormality of the contralateral basal ganglion seen only with positron emission tomography. A 50-year-old sinistral man suffered minor trauma to the right side of his head and neck. Within 20 minutes he developed paroxysmal intermittent dystonic posturing of his right face, forearm, hand, and foot, with weaker contractions of the left foot, lasting several seconds and recurring every few minutes. Neurological findings between spells were normal. The following were also normal: electrolyte, calcium, magnesium, and arterial blood gas levels, and findings of drug screen, cerebrospinal fluid examination, electroencephalography with nasopharyngeal leads, computed tomographic scanning (initially and four weeks later), and cerebral angiography. Positron emission tomographic scanning revealed abnormalities in the left basal ganglion region, including decreased oxygen metabolism, decreased oxygen extraction, increased blood volume, and increased blood flow.
Hall, D; Todorova-Koteva, K; Pandya, S; Bernard, B; Ouyang, B; Walsh, M; Pounardjian, T; Deburghraeve, C; Zhou, L; Losh, M; Leehey, M; Berry-Kravis, E
Women who carry fragile X mental retardation 1 (FMR1)gene premutation expansions frequently report neurological or endocrine symptoms and prior studies have predominantly focused on questionnaire report of medical issues. Premutation carrier (PMC) women (n = 33) and non-carrier controls (n = 13) were recruited and evaluated by a neurologist, neuropsychologist, and endocrinologist. Blood and skin biopsies were collected for molecular measures. Scales for movement disorders, neuropathy, cognitive function, psychiatric symptoms, sleep, and quality of life were completed. The average age of the women was 51 years (n = 46) and average CGG repeat size was 91 ± 24.9 in the FMR1 PMC women. Seventy percent of the PMC women had an abnormal neurological examination. PMC women had significantly higher scores on the Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) rating scale, more neuropathy, and difficulty with tandem gait compared to controls. Central sensitivity syndromes, a neuroticism profile on the NEO Personality Profile, and sleep disorders were also prevalent. Discrepancies between subject report and examination findings were also seen. This pilot study suggests that women with the FMR1 premutation may have a phenotype that overlaps with that seen in FXTAS. Additional research with larger sample sizes is warranted to better delineate the clinical features.
Hall, Deborah; Todorova-Koteva, Kristina; Pandya, Shrikant; Bernard, Bryan; Ouyang, Bichun; Walsh, Maura; Pounardjian, Tamar; Deburghraeve, Cory; Zhou, Lili; Losh, Molly; Leehey, Maureen; Berry-Kravis, Elizabeth
Introduction Women who carry fragile X mental retardation 1 (FMR1)gene premutation expansions frequently report neurological or endocrine symptoms and prior studies have predominantly focused on questionnaire report of medical issues. Methods Premutation carrier women (n=33) and non-carrier controls (n=13) were recruited and evaluated by a neurologist, neuropsychologist, and endocrinologist. Blood and skin biopsies were collected for molecular measures. Scales for movement disorders, neuropathy, cognitive function, psychiatric symptoms, sleep, and quality of life were completed. Results The average age of the women was 51 years (n=46) and average CGG repeat size was 91 ± 24.9 in the FMR1 premutation carrier women. Seventy-percent of the premutation carrier women had an abnormal neurological examination. Premutation carrier women had significantly higher scores on the FXTAS Rating Scale, more neuropathy, and difficulty with tandem gait compared to controls. Central sensitivity syndromes, a neuroticism profile on the NEO Personality Profile, and sleep disorders were also prevalent. Discrepancies between subject report and examination findings were also seen. Conclusions This pilot study suggests that women with the FMR1 premutation may have a phenotype that overlaps with that seen in FXTAS. Additional research with larger sample sizes is warranted to better delineate the clinical features. PMID:26212380
Kermah, Dulcie; Shaheen, Magda; Pan, Deyu
Objective The objective of this study is to investigate the relationship between cotinine level-confirmed secondhand smoke (SHS) exposure and glycemic parameters and obesity. Research design and methods We examined a cohort of 6472 adults from the National Health and Nutrition Examination Surveys, 1999–2010. Serum cotinine levels and self-reported data on smoking were used to determine smoking status. The outcome variables were body mass index (BMI) and glycemic status (HbA1c), Homeostasis Model Assessment of Insulin Resistance (HOMA-IR), and fasting plasma glucose (FPG). Descriptive, bivariate, and multivariate analyses were conducted. Results Using cotinine level-confirmed smoking status, 1794 (27.4%) of the sample were current smokers, 1681 (25.0%) were former smokers, 1158 (17.8%) were secondhand smokers, and 1839 (29.8%) were non-smokers. In a generalized linear model after controlling for potential confounding variables, secondhand smokers had higher adjusted levels of HOMA-IR, FPG, and BMI compared with non-smokers (p<0.05). Adjustment for BMI demonstrated that some, but not all, of the detrimental effects of SHS on glycemic parameters are mediated by the increased body weight of secondhand smokers. Conclusions We conclude that SHS is associated with obesity and worsening glycemic parameters. More studies are needed to show a causal relationship between SHS and glycemic parameters and to understand the mechanisms involved in the association.
... the neurological complications of AIDS. Some disorders require aggressive therapy while others are treated symptomatically. Medicines range ... certain bacterial infections, and penicillin to treat neurosyphilis. Aggressive antiretroviral therapy is used to treat AIDS dementia ...
... Patient & Caregiver Education » Fact Sheets Neurological Complications of AIDS Fact Sheet Table of Contents (click to jump ... Where can I get more information? What is AIDS? AIDS (acquired immune deficiency syndrome) is a condition ...
Jiang, Charlie Z. W.; Zamorano, Lucia J.; Kadi, A. Majeed
The computer-assisted neurological surgery planning system (NSPS), developed by the Neurological Surgery Department, Wayne State University, Detroit, MI, is designed to offer neurosurgeons a safe and accurate method to approach intracranial lesions. Software consisting of the most advanced technologies in computer vision, computer graphics, and stereotactic numeric analysis forms the kernel of the system. Our paper discusses the functionalities and background theories used in NSPS.
Brigo, Francesco; Igwe, Stanley C; Nardone, Raffaele; Lochner, Piergiorgio; Tezzon, Frediano; Otte, Willem M
Our aim was to evaluate Wikipedia page visits in relation to the most common neurological disorders by determining which factors are related to peaks in Wikipedia searches for these conditions. Millions of people worldwide use the internet daily as a source of health information. Wikipedia is a popular free online encyclopedia used by patients and physicians to search for health-related information. The following Wikipedia articles were considered: Alzheimer's disease; Amyotrophic lateral sclerosis; Dementia; Epilepsy; Epileptic seizure; Migraine; Multiple sclerosis; Parkinson's disease; Stroke; Traumatic brain injury. We analyzed information regarding the total article views for 90 days and the rank of these articles among all those available in Wikipedia. We determined the highest search volume peaks to identify possible relation with online news headlines. No relation between incidence or prevalence of neurological disorders and the search volume for the related articles was found. Seven out of 10 neurological conditions showed relations in search volume peaks and news headlines. Six out of these seven peaks were related to news about famous people suffering from neurological disorders, especially those from showbusiness. Identification of discrepancies between disease burden and health seeking behavior on Wikipedia is useful in the planning of public health campaigns. Celebrities who publicly announce their neurological diagnosis might effectively promote awareness programs, increase public knowledge and reduce stigma related to diagnoses of neurological disorders.
Maytal, J; Libman, R B; Lustrin, E S
We report a case of a basilar artery migraine in a 17-year-old boy with transient CT and MR abnormalities after each of two migraine episodes. A repeat MR study 6 months after the last event showed complete resolution of the lesion. Transient abnormalities on brain images similar to those shown in our case have been reported in patients with migraine and other neurologic conditions and are most likely related to cerebral vasogenic edema.
Background Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes frequently reported in chromosomal disorders. Methods Detailed clinical assessment, electrophysiological studies, survey of the literature. Results In some of these congenital syndromes the clinical presentation and EEG anomalies seems to be quite typical, in others the manifestations appear aspecific and no strictly linked with the chromosomal imbalance. The onset of seizures is often during the neonatal period of the infancy. Conclusions A better characterization of the electro clinical patterns associated with specific chromosomal aberrations could give us a valuable key in the identification of epilepsy susceptibility of some chromosomal loci, using the new advances in molecular cytogenetics techniques - such as fluorescent in situ hybridization (FISH), subtelomeric analysis and CGH (comparative genomic hybridization) microarray. However further studies are needed to understand the mechanism of epilepsy associated with chromosomal abnormalities. PMID:20438626
Huo, R.; Burden, S.; Hoyt, C.; Good, W.
BACKGROUND/AIMS—To evaluate prevalence, aetiology, prognosis, and associated neurological and ophthalmological problems in children with cortical visual impairment (CVI). METHODS—The records of 7200 outpatients seen in the paediatric ophthalmology practice over the past 15 years were reviewed in order to compile data concerning CVI. In addition, the authors devised and applied a system for grading visual recovery in order to assess prognosis. RESULTS—CVI occurred in 2.4% of all patients examined. The four most common causes of CVI were perinatal hypoxia (22%), cerebral vascular accident (14%), meningitis (12%), and acquired hypoxia (10%). Most children with CVI had associated neurological abnormalities. The most common were seizures (53%), cerebral palsy (26%) hemiparesis (12%), and hypotonia (5%). Associated ophthalmological problems were esotropia (19%), exotropia (18%), optic nerve atrophy (16%), ocular motor apraxia (15%), nystagmus (11%), and retinal disease (3%). On average, CVI patients improved by two levels as measured by the authors' scale. CONCLUSION—The majority of children with CVI showed at least some recovery. In this group of children, CVI is often accompanied by additional ophthalmological problems and is nearly always associated with other, serious neurological abnormalities. PMID:10340973
Jayalakshmi, Sita; Vooturi, Sudhindra
Clinical neuroscience has made tremendous advances over the last century. Neurology as a discipline is still considered challenging and at times risky due to the natural history and progressive course of few of the neurological diseases. Encouragingly, the patient and their caregivers are now increasingly willing to be actively involved in making decisions. The patients’ relationship with the doctor is a reflection of the society. A society that is orienting itself toward “rating” and “feedback” has made this doctor–patient relationship, a consumer–service provider relationship. This perhaps is due to commercialization of health that usually accompanies globalization. Moreover, a rapid influx of information from potential erroneous sources such as the Internet has also made patient and caregivers not being hesitant to taking legal course in the case of adverse events during treatment or simply because of dissatisfaction. The purpose of the legal process initiated by patients with neurological ailments is more often to compensate for the income lost, physical and psychological anguish that accompanies disease and its treatment, and to fund treatment or rehabilitation requirements. However, it is not clearly established if monetary benefits acquired lead to better opportunities for recovery of the patient. The consumer protection act and commercialization of medical services may well have an adverse effect on the doctor and patient relationship. Hence, there is a great need for all medical professionals to mutually complement and update each other. This review examines legal (litigation) processes with special interest on medicolegal system in patients with neurological ailments and the challenges faced by the neurologist during day-to-day clinical practice. PMID:27891018
Reynolds, Edward H; Trimble, Michael R
This article reviews the relationship between the psychiatry and neurology of epilepsy, especially in the last 100 years. Throughout most of its recorded history of 3 to 4 millennia epilepsy has been viewed as a supernatural or mental disorder. Although first suggested by Hippocrates in the 5th century B.C., the concept of epilepsy as a brain disorder only began to take root in the 17th and 18th centuries. The discipline of neurology emerged from "nervous disorders" or neuropsychiatry in the late 19th century, when vascular theories of epilepsy predominated. By the turn of the 19th century psychiatry and neurology were diverging and epilepsy remained to some extent in both disciplines. It was only in the middle of the 20th century with the development of electromagnetic theories of epilepsy that the concept of epilepsy per se as a neurological disorder was finally adopted in international classifications of disease. This was associated with a refined definition of the ictal, pre-, post-, and interictal psychological disorders of epilepsy, which have contributed to a renaissance of neuropsychiatry. At the beginning of the 21st century and the centenary of the ILAE psychiatry and neurology have been converging again, led in some respects by epilepsy, which has provided several useful models of mental illness and a bridge between the two disciplines.
Palma, Jose-Alberto; Palma, Fermin
Don Quixote de la Mancha, which is considered one of the most important and influential works of Western modern prose, contains many references of interest for almost all of the medical specialties. In this regard, numerous references to neurology can be found in Cervantes' immortal work. In this study, we aimed to read Don Quixote from a neurologist's point of view, describing the neurological phenomena scattered throughout the novel, including tremors, sleep disturbances, neuropsychiatric symptoms, dementia, epilepsy, paralysis, stroke, syncope, traumatic head injury, and headache; we relate these symptoms with depictions of those conditions in the medical literature of the time. We also review Cervantes' sources of neurological information, including the works by renowned Spanish authors such as Juan Huarte de San Juan, Dionisio Daza Chacón and Juan Valverde de Amusco, and we hypothesize that Don Quixote's disorder was actually a neurological condition. Although Cervantes wrote it four centuries ago, Don Quixote contains plenty of references to neurology, and many of the ideas and concepts reflected in it are still of interest.
Han, Guangchun; Sun, Jiya; Wang, Jiajia; Bai, Zhouxian; Song, Fuhai; Lei, Hongxing
Neurological disorders comprise a variety of complex diseases in the central nervous system, which can be roughly classified as neurodegenerative diseases and psychiatric disorders. The basic and translational research of neurological disorders has been hindered by the difficulty in accessing the pathological center (i.e., the brain) in live patients. The rapid advancement of sequencing and array technologies has made it possible to investigate the disease mechanism and biomarkers from a systems perspective. In this review, recent progresses in the discovery of novel risk genes, treatment targets and peripheral biomarkers employing genomic technologies will be discussed. Our major focus will be on two of the most heavily investigated neurological disorders, namely Alzheimer's disease and autism spectrum disorder.
Neurological sleep disorders are common in the general population and may have a strong impact on quality of life. General practitioners play a key role in recognizing and managing sleep disorders in the general population. They should therefore be familiar with the most important neurological sleep disorders. This review provides a comprehensive overview of the most prevalent and important neurological sleep disorders, including Restless legs syndrome (with and without periodic limb movements in sleep), narcolepsy, NREM- and REM-sleep parasomnias and the complex relationship between sleep and epilepsies. Although narcolepsy is considered as a rare disease, recent discoveries in narcolepsy research provided insight in the function of brain circuitries involved in sleep wake regulation. REM sleep behavioral parasomnia (RBD) is increasingly recognized to represent an early manifestation of neurodegenerative disorders, in particular evolving synucleinopathies. Early diagnosis may thus open new perspectives for developing novel treatment options by targeting neuroprotective substances.
The National Institute for Health and Clinical Excellence (NICE) is 10 years old and has now issued a number of technology appraisals for new treatments for neurological disorders. Those for multiple sclerosis and dementia have been controversial and have attracted particular media attention, to say nothing of strong feelings within British neurology. Some of its other activities, which include both appraisals of interventions and clinical guidelines, have attracted less notice but form an important part of its remit. There is no doubt that NICE has had an impact on neurological care in the UK which for the most part has been beneficial. It has a vital role in managing the relationship between the NHS and pharma, and helps ensure equity in access to new and potentially expensive treatments.
Perrin, H. Blasco; Cintas, P.; Abravanel, F.; Gérolami, R.; d'Alteroche, L.; Raynal, J.-N.; Alric, L.; Dupuis, E.; Prudhomme, L.; Vaucher, E.; Couzigou, P.; Liversain, J.-M.; Bureau, C.; Vinel, J.-P.; Kamar, N.; Izopet, J.
Neurologic disorders, mainly Guillain-Barré syndrome and Parsonage–Turner syndrome (PTS), have been described in patients with hepatitis E virus (HEV) infection in industrialized and developing countries. We report a wider range of neurologic disorders in nonimmunocompromised patients with acute HEV infection. Data from 15 French immunocompetent patients with acute HEV infection and neurologic disorders were retrospectively recorded from January 2006 through June 2013. The disorders could be divided into 4 main entities: mononeuritis multiplex, PTS, meningoradiculitis, and acute demyelinating neuropathy. HEV infection was treated with ribavirin in 3 patients (for PTS or mononeuritis multiplex). One patient was treated with corticosteroids (for mononeuropathy multiplex), and 5 others received intravenous immunoglobulin (for PTS, meningoradiculitis, Guillain-Barré syndrome, or Miller Fisher syndrome). We conclude that pleiotropic neurologic disorders are seen in HEV-infected immunocompetent patients. Patients with acute neurologic manifestations and aminotransferase abnormalities should be screened for HEV infection. PMID:26490255
Hasliza, A H; Tohid, H; Loh, K Y; Santhi, P
Dengue infection is highly endemic in many tropical countries including Malaysia. However, neurological complications arising from dengue infection is not common; Gullain-Barre syndrome (GBS) is one of these infrequent complications. In this paper, we have reported a case in which a 39-year-old woman presented with a neurological complication of dengue infection without typical symptoms and signs of dengue fever. She had a history of acute gastroenteritis (AGE) followed by an upper respiratory tract infection (URTI) weeks prior to her presentation rendering GBS secondary to the post viral URTI and AGE as the most likely diagnosis. Presence of thrombocytopenia was the only clue for dengue in this case.
Leypoldt, F; Wandinger, K-P
Paraneoplastic neurological syndromes are immune-mediated erroneous attacks on the central or peripheral nervous systems, or both, directed originally against the tumour itself. They have been known for more than 40 years, but recently the discovery of new subgroups of paraneoplastic encephalitis syndromes with a remarkably good response to immune therapy has ignited new clinical and scientific interest. Knowledge of these subgroups and their associated autoantibodies is important in therapeutic decision-making. However, the abundance of new autoantibodies and syndromes can be confusing. This review paper summarizes current knowledge and new developments in the field of paraneoplastic neurological syndromes, their classification, pathophysiology and treatment. PMID:23937626
Diamond, I; Messing, R O
Alcoholism, a worldwide disorder, is the cause of a variety of neurologic disorders. In this article we discuss the cellular pathophysiology of ethanol addition and abuse as well as evidence supporting and refuting the role of inheritance in alcoholism. A genetic marker for alcoholism has not been identified, but neurophysiologic studies may be promising. Some neurologic disorders related to longterm alcoholism are due predominantly to inadequate nutrition (the thiamine deficiency that causes Wernicke's encephalopathy), but others appear to involve the neurotoxicity of ethanol on brain (alcohol withdrawal syndrome and dementia) and peripheral nerves (alcoholic neuropathy and myopathy). Images PMID:7975567
Welch, Kevin C
Risk is inherent with all surgical procedures. Most endoscopic sinus surgery (ESS) is uncomplicated. Among the many complications inherent with ESS are the neurologic complications, which include cerebrospinal fluid rhinorrhea, traumatic soft tissue and vascular injuries, infection, and seizures. Despite intense review of a patient's preoperative scans, use of stereotactic image guidance, and an expert understanding of anatomy, neurologic complications occur. An understanding of these complications and how to manage them can help to reduce long-term patient injury as well as help prevent recurrence.
Zucconi, M; Bruni, O
Pediatric neurologic diseases are often associated with different kinds of sleep disruption (mainly insomnia, less frequently hypersomnia or parasomnias). Due to the key-role of sleep for development, the effort to ameliorate sleep patterns in these children could have important prognostic benefits. Study of sleep architecture and organization in neurologic disorders could lead to a better comprehension of the pathogenesis and a better treatment of the disorders. This article focuses on the following specific neurologic diseases: nocturnal frontal lobe epilepsy and abnormal motor behaviors of epileptic origin, evaluating differential diagnosis with parasomnias; achondroplasia, confirming the crucial role of craniofacial deformity in determining sleep-disordered breathing; neuromuscular diseases, mainly Duchenne's muscular dystrophy and myotonic dystrophy; cerebral palsy, evaluating either the features of sleep architecture and the importance of the respiratory problems associated; headaches, confirming the strict relationships with sleep in terms of neurochemical and neurobehavioral substrates; and finally a review on the effectiveness of melatonin for sleep problems in children with neurologic syndromes and mental retardation, blindness, and epilepsy.
Chronic pain is a frequent component of many neurological disorders, affecting 20–40% of patients for many primary neurological diseases. These diseases result from a wide range of pathophysiologies including traumatic injury to the central nervous system, neurodegeneration and neuroinflammation, and exploring the aetiology of pain in these disorders is an opportunity to achieve new insight into pain processing. Whether pain originates in the central or peripheral nervous system, it frequently becomes centralized through maladaptive responses within the central nervous system that can profoundly alter brain systems and thereby behaviour (e.g. depression). Chronic pain should thus be considered a brain disease in which alterations in neural networks affect multiple aspects of brain function, structure and chemistry. The study and treatment of this disease is greatly complicated by the lack of objective measures for either the symptoms or the underlying mechanisms of chronic pain. In pain associated with neurological disease, it is sometimes difficult to obtain even a subjective evaluation of pain, as is the case for patients in a vegetative state or end-stage Alzheimer's disease. It is critical that neurologists become more involved in chronic pain treatment and research (already significant in the fields of migraine and peripheral neuropathies). To achieve this goal, greater efforts are needed to enhance training for neurologists in pain treatment and promote greater interest in the field. This review describes examples of pain in different neurological diseases including primary neurological pain conditions, discusses the therapeutic potential of brain-targeted therapies and highlights the need for objective measures of pain. PMID:22067541
Hasbun, Rodrigo; Garcia, Melissa N.; Kellaway, Judianne; Baker, Laura; Salazar, Lucrecia; Woods, Steven Paul
West Nile virus (WNV) has emerged as an important vector-borne pathogen in North America, with more than 3 million estimated to have been infected. Retinopathy from WNV infection has been previously reported in acute cases, though those prior reports did not evaluate the risk of retinopathy based on clinical severity of neurologic disease. The purpose of this cross-sectional study was to perform comprehensive ophthalmological and neurological examinations on 111 patients with a history of West Nile virus infection and describe the ocular manifestations. Out of 111 patients, 27 (24%) had evidence for West Nile virus associated retinopathy (WNVR); this observation was higher (49%) in those patients who initially presented with encephalitis. Individuals with WNVR had more frequent involvement of the macula and peripheral involvement compared to those patients without WNVR (p<0.05). WNVR was also associated with a greater likelihood of abnormal reflexes on neurological exam, poorer learning, greater dependence in activities of daily living, and lower quality of life (p<0.05). WNVR was seen more frequently in elderly patients (age > 60 years), and was associated with higher rates of diabetes mellitus and a history of encephalitis (p<0.05). A multivariable logistic regression revealed that only a history of encephalitis was independently associated with WNVR [Adjusted Odds Ratio = 4.9 (1.8–13.2); p = 0.001]. Our study found that WNVR occurs in one fourth of patients with a history of WNV infection and is more frequently observed in those with apparent severe neurological sequelae (e.g., encephalitis). The clinical relevance of WNVR was supported by its associations with dependence in activities of daily living and lower quality of life. This unique evaluation of WNV patients included fundoscopic examinations and their associations with neurologic impairment. Our findings can be used during ophthalmological consultation for the evaluation, treatment and rehabilitation
Pierson, Diane M; Taboada, Eugenio; Butler, Merlin G
Fryns syndrome is a rare, generally lethal, autosomal recessive multiple congenital anomaly (MCA) syndrome first described in 1979. Patients with the syndrome present with the classical findings of cloudy cornea, brain malformations, diaphragmatic defects, and distal limb deformities. Over 70 patients have been reported revealing a wide variety of phenotypic features. Although initially considered a major feature of Fryns syndrome, cloudy cornea has been relegated as a minor diagnostic sign and not commonly reported in patients since the original description. However, eye findings per se are not uncommon. Abnormal eye findings occasionally reported in Fryns syndrome potentially result in amblyopia and blindness, profoundly affecting neurologic outcome of those who survive the neonatal period. We reviewed 77 reported patients with Fryns syndrome and summarized the abnormal eye findings identified in 12 of the reported cases. In addition, we contribute three new patients with Fryns syndrome, one of which demonstrated unilateral microphthalmia and cloudy cornea.
Jääskeläinen, S K; Forssell, H; Tenovuo, O
To our knowledge, this is the first report on pain-related abnormalities of the eye blink reflex (BR) in a clinical pain patient population. The objective of this study was to evaluate the possible neuropathic mechanisms underlying the burning mouth syndrome (BMS), by means of objective electrophysiological examination of the trigemino-facial system. We studied the BR with stimulation of the supraorbital nerve (SON) with particular emphasis on the occurrence of the pain-related ultralate R3 components, and the habituation response of the R2 components. The subjects consisted of eleven BMS patients and 10 healthy control subjects. All patients underwent thorough clinical oral and neurological examinations. The motor function of the trigeminal nerve was assessed with a jaw reflex recording, and a needle-EMG examination of the facial and masticatory muscles was performed in the patients with abnormalities in the BR recordings. The jaw reflexes, the latencies of the BR components, and the needle-EMG examinations were normal in all patients. As a group, the BMS patients had statistically significantly higher stimulus thresholds for the tactile R 1 components of the BR compared with the control subjects. With non-noxious stimulation, the BMS patients showed more frequently pain-related R3 components (11/22 SONs) compared with the controls (3/20 SONs). In addition, four BMS patients had abnormal habituation of the R2 components. In two of these patients, the findings were segmental (i.e., unilateral), coinciding with the side of the subjective BM symptoms. The abnormalities of the BR tests appeared to be related to longer disease duration. Our results suggest a possible pathologic involvement of the nervous system in chronic BMS.
Brownlee, W J; Anderson, N E; Sims, J; Pereira, J A
Acute multifocal placoid pigment epitheliopathy (AMPPE) is an autoimmune chorioretinal disease that can be complicated by neurological involvement. There is limited information on this potentially treatable condition in the neurological literature. The objective of this patient series is to describe the neurological complications of AMPPE. We retrospectively identified patients with neurological complications of AMPPE seen at Auckland Hospital between 2008 and 2013 and summarised cases in the literature between 1976 and 2013. We identified five patients with neurological complications of AMPPE at Auckland Hospital and 47 reported patients. These patients demonstrated a spectrum of neurological involvement including isolated headache, stroke or transient ischaemic attack, seizures, venous sinus thrombosis, optic neuritis, sensorineural hearing loss and peripheral vestibular disorder. We propose criteria to define AMPPE with neurological complications. A cerebrospinal fluid (CSF) lymphocytosis in a patient with isolated headache may predict the development of cerebrovascular complications of AMPPE. Patients with cerebrovascular complications of AMPPE have a poor prognosis with high rates of death and neurological disability among survivors. Predictors of poor outcome in those who develop neurological complications of AMPPE are a relapsing course, generalised seizures and multifocal infarction on MRI. All patients with neurological complications of AMPPE, including headache alone, should be investigated with an MRI brain and CSF examination. Patients with focal neurological symptoms should receive intravenous (IV) methylprednisolone followed by a tapering course of oral steroids for at least 3months. Patients with AMPPE and an isolated headache with a CSF pleocytosis should be treated with oral steroids.
Compton, Michael T; Fantes, Francisco; Wan, Claire Ramsay; Johnson, Stephanie; Walker, Elaine F
Motor abnormalities represent a neurobehavioral domain of signs intrinsic to schizophrenia-spectrum disorders, though they are commonly attributed to medication side effects and remain understudied. Individuals with first-episode psychosis represent an ideal group to study innate movement disorders due to minimal prior antipsychotic exposure. We measured dyskinesias, stereotypies, and catatonic-like signs and examined their associations with: (1) age at onset of psychotic symptoms and duration of untreated psychosis; (2) positive, negative, and disorganized symptoms; (3) neurocognition; and (4) neurological soft signs. Among 47 predominantly African American first-episode psychosis patients in a public-sector hospital, the presence and severity of dyskinesias, stereotypies, and catatonic-like features were assessed using approximately 30-min video recordings. Movement abnormalities were rated utilizing three scales (Dyskinesia Identification System Condensed User Scale, Stereotypy Checklist, and Catatonia Rating Scale). Correlational analyses were conducted. Scores for each of three movement abnormality types were modestly inter-correlated (r=0.29-0.40). Stereotypy score was significantly associated with age at onset of psychotic symptoms (r=0.32) and positive symptom severity scores (r=0.29-0.41). There were no meaningful or consistent associations with negative symptom severity, neurocognition, or neurological soft signs. Abnormal movements appear to represent a relatively distinct phenotypic domain deserving of further research.
Vix, Justine; Mathis, Stéphane; Lacoste, Mathieu; Guillevin, Rémy; Neau, Jean-Philippe
Abstract Parry–Romberg syndrome (PRS) is a variant of morphea usually characterized by a slowly progressive course. Clinical and radiological involvement of the central nervous system may be observed in PRS. We describe 2 patients with PRS and neurological symptoms (one with trigeminal neuralgia associated with deafness, and the second with hemifacial pain associated with migraine without aura) in conjunction with abnormal cerebral MRI including white matter T2 hyperintensities and enhancement with gadolinium. Despite the absence of specific immunosuppressive treatments, both patients have presented stable imaging during follow-up without any clinical neurologic progression. We have performed a large review of the medical literature on patients with PRS and neurological involvement (total of 129 patients) Central nervous system involvement is frequent among PRS patients and is inconsistently associated with clinical abnormalities. These various neurological manifestations include seizures, headaches, movement disorders, neuropsychological symptoms, and focal symptoms. Cerebral MRI may reveal frequent abnormalities, which can be bilateral or more often homolateral to the skin lesions, localized or so widespread so as to involve the whole hemisphere: T2 hyperintensities, mostly in the subcortical white matter, gadolinium enhancement, brain atrophy, and calcifications. These radiological lesions do not usually progress over time. Steroids or immunosuppressive treatments are controversial since it remains unclear to what extent they are beneficial and there is often no neurological progression. PMID:26181554
De Bock, Marijke; Kerrebrouck, Marianne; Wang, Nan; Leybaert, Luc
The coordination of tissue function is mediated by gap junctions (GJs) that enable direct cell–cell transfer of metabolic and electric signals. GJs are formed by connexins of which Cx43 is most widespread in the human body. In the brain, Cx43 GJs are mostly found in astroglia where they coordinate the propagation of Ca2+ waves, spatial K+ buffering, and distribution of glucose. Beyond its role in direct intercellular communication, Cx43 also forms unapposed, non-junctional hemichannels in the plasma membrane of glial cells. These allow the passage of several neuro- and gliotransmitters that may, combined with downstream paracrine signaling, complement direct GJ communication among glial cells and sustain glial-neuronal signaling. Mutations in the GJA1 gene encoding Cx43 have been identified in a rare, mostly autosomal dominant syndrome called oculodentodigital dysplasia (ODDD). ODDD patients display a pleiotropic phenotype reflected by eye, hand, teeth, and foot abnormalities, as well as craniofacial and bone malformations. Remarkably, neurological symptoms such as dysarthria, neurogenic bladder (manifested as urinary incontinence), spasticity or muscle weakness, ataxia, and epilepsy are other prominent features observed in ODDD patients. Over 10 mutations detected in patients diagnosed with neurological disorders are associated with altered functionality of Cx43 GJs/hemichannels, but the link between ODDD-related abnormal channel activities and neurologic phenotype is still elusive. Here, we present an overview on the nature of the mutants conveying structural and functional changes of Cx43 channels and discuss available evidence for aberrant Cx43 GJ and hemichannel function. In a final step, we examine the possibilities of how channel dysfunction may lead to some of the neurological manifestations of ODDD. PMID:24133447
St. Louis, Erik K.
Summary Sleep disorders are frequent comorbidities in neurologic patients. This review focuses on clinical aspects and prognosis of 3 neurologic sleep disorders: narcolepsy, restless legs syndrome/Willis-Ekbom disease (RLS/WED), and REM sleep behavior disorder (RBD). Narcolepsy causes pervasive, enduring excessive daytime sleepiness, adversely affecting patients' daily functioning. RLS/WED is characterized by an uncomfortable urge to move the legs before sleep, often evolving toward augmentation and resulting in daylong bothersome symptoms. RBD causes potentially injurious dream enactment behaviors that often signify future evolution of overt synucleinopathy neurodegeneration in as many as 81% of patients. Timely recognition, referral for polysomnography, and longitudinal follow-up of narcolepsy, RLS/WED, and RBD patients are imperatives for neurologists in providing quality comprehensive patient care. PMID:24605270
Mateen, Farrah J.
Summary In recent years, the need for additional neurologists and neurologic expertise in many low- and middle-income countries (LMIC) has become more apparent. Many organizations are committed to this unmet need, but the scope of the problem remains mostly underappreciated. Neurologists may be skeptical about their value in resource-limited settings, yet we are critically needed and can have a marked effect. International experiences, however, must be carried out in ethical, informed, and sustainable ways in tandem with local health care providers when possible. We present a brief overview of critical issues in global neurology, the importance of focusing on benefits to the LMIC, and options for volunteer opportunities in clinical service, education, research, and disaster relief. Finally, we offer practical pointers and resources for planning these experiences. PMID:25110621
Boersma, Isabel; Miyasaki, Janis; Kutner, Jean
Palliative care is an approach to the care of patients and families facing progressive and chronic illnesses that focuses on the relief of suffering due to physical symptoms, psychosocial issues, and spiritual distress. As neurologists care for patients with chronic, progressive, life-limiting, and disabling conditions, it is important that they understand and learn to apply the principles of palliative medicine. In this article, we aim to provide a practical starting point in palliative medicine for neurologists by answering the following questions: (1) What is palliative care and what is hospice care? (2) What are the palliative care needs of neurology patients? (3) Do neurology patients have unique palliative care needs? and (4) How can palliative care be integrated into neurology practice? We cover several fundamental palliative care skills relevant to neurologists, including communication of bad news, symptom assessment and management, advance care planning, caregiver assessment, and appropriate referral to hospice and other palliative care services. We conclude by suggesting areas for future educational efforts and research. PMID:24991027
Neurological disorders caused by pregnancy and puerperium include the posterior reversible encephalopathy syndrome, the amniotic fluid embolism syndrome (AFES), the postpartum angiopathy due to reversible vasoconstriction syndrome, and the Sheehan syndrome. Hypertension and proteinuria are the hallmarks of preeclampsia, seizures define eclampsia. Hemolysis, elevated liver enzymes and low platelets constitute the HELLP syndrome. Vision disturbances including cortical blindness occur in the posterior reversible encephalopathy syndrome (PRES). The Sheehan syndrome presents with panhypopituitarism post partum due to apoplexia of the pituitary gland in severe peripartal blood loss leading to longstanding hypotension. Some neurological disorders occur during pregnancy and puerperium with an increased frequency. These include stroke, sinus thrombosis, the restless legs syndrome and peripheral nerve syndromes, especially the carpal tunnel syndrome. Chronic neurologic diseases need an interdisciplinary approach during pregnancy. Some anticonvulsants double the risk of birth defects. The highest risk exists for valproic acid, the lowest for lamotrigine and levetiracetam. For MS interval treatment, glatiramer acetate and interferones seem to be safe during pregnancy. All other drugs should be avoided.
Awada, Adnan; Kojan, Suleiman
Travel is associated with a number of neurological disorders that can be divided into two categories: (1) Neurological infections including encephalitides, neurotuberculosis, neurobrucellosis, cysticercosis and trichinosis. Some of these disorders can be prevented by vaccinations, such as Japanese B encephalitis and rabies, some by the use of insect repellents and some by avoiding raw milk products and undercooked meat. (2) Non-infective neurological disorders, such as acute mountain sickness and high altitude cerebral oedema, problems occurring during air travel such as syncope, seizures, strokes, nerve compression, barotrauma and vertigo, motion sickness and foodborne neurotoxic disorders such as ciguatera, shellfish poisoning and intoxication by cassava. This group of diseases and disorders could be prevented if the traveller knows about them, applies simple physiological rules, takes some specific medications and knows how to avoid intoxications in certain geographical areas. Meningococcal meningitis, malaria and jet lag syndrome are extensively discussed in other articles of this issue. The discussion in this paper will be limited to the other disorders.
Fàbregas, Neus; Bruder, Nicolas
Recovery from general anaesthesia is a period of intense stress for patients: there is sympathetic activation, catecholamine release, and increase in blood pressure or heart rate. Stressful events increase cerebral blood flow and cerebral oxygen consumption, potentially producing elevation of intracranial pressure and thus, favouring cerebral insults. Measures to prevent agitation, hypertension, shivering, and coughing are therefore very well justified in neurosurgical patients. The rationale for a "rapid-awakening-strategy" after craniotomy with general anaesthesia is that an early diagnosis of postoperative neurological complications is essential to limit potentially devastating consequences and finally improve patient outcome. A trial of early recovery may always be attempted to perform a neurological evaluation. An awake patient is the best and the cheapest neuromonitoring available. If, after surgery, a patient does not rapidly recover consciousness, or a focal neurological deficit becomes apparent, a head CT-scan should be performed as soon as possible to rule out a neurosurgical complication. Close monitoring during the first 24 hours after craniotomy is mandatory.
Alrawashdeh, Omar; Alsbou, Mohammad; Alzoubi, Hamed; Al-shagahin, Hani
Alkaptonuria is a rare metabolic disease characterised by accumulative deposition of homogentisic acid in the connective tissue of the body. This results in early degeneration of tendons, cartilages, heart valves, and other tissues. The main objective of the study is to examine the possibility of the nervous system involvement in patients with alkaptonuria The sample consists of two groups; 22 patients with AKU and 20 controls. A neurological assessment has been carried out including detailed medical history, neurological examination, and a nerve conduction study of the nerves of the dominant hand. The prevalence of any abnormality was compared between the two groups using chi square test. The mean values of the nerve conduction study were compared between the two groups using student t-test. There was a higher prevalence of low back pain, hearing problems and tinnitus, numbness and neuropathic pain in alkaptonuria patients. There was no significant difference between the two groups in other conditions such as seizures, headache, and syncope. The values of the nerve conduction study did not show significant difference between the two groups. Neurologically related symptoms in alkaptonuria mostly represent complications of the connective tissue degeneration rather than direct involvement of the nervous system. This has been supported further by the normal findings of the neurophysiology study in patients with alkaptonuria. PMID:28217270
Albert, Dara V; Blood, Angela D; Park, Yoon Soo; Brorson, James R; Lukas, Rimas V
This study examined how volume in certain patient case types and breadth across patient case types in the outpatient clinic setting are related to Neurology Clerkship student performance. Case logs from the outpatient clinic experience of 486 students from The University of Chicago Pritzker School of Medicine, USA, participating in the 4week Neurology Clerkship from July 2008 to June 2013 were reviewed. A total of 12,381 patient encounters were logged and then classified into 13 diagnostic categories. How volume of cases within categories and the breadth of cases across categories relate to the National Board of Medical Examiners Clinical Subject Examination for Neurology and a Neurology Clerkship Objective Structured Clinical Examination was analyzed. Volume of cases was significantly correlated with the National Board of Medical Examiners Clinical Subject Examination for Neurology (r=.290, p<.001), the Objective Structured Clinical Examination physical examination (r=.236, p=.011), and the Objective Structured Clinical Examination patient note (r=.238, p=.010). Breadth of cases was significantly correlated with the National Board of Medical Examiners Clinical Subject Examination for Neurology (r=.231, p=.017), however was not significantly correlated with any component of the Objective Structured Clinical Examination. Volume of cases correlated with higher performance on measures of specialty knowledge and clinical skill. Fewer relationships emerged correlating breadth of cases and performance on the same measures. This study provides guidance to educators who must decide how much emphasis to place on volume versus breadth of cases in outpatient clinic learning experiences.
Rucker, Janet C
This chapter on lid function is comprised of two primary sections, the first on normal eyelid anatomy, neurological innervation, and physiology, and the second on abnormal eyelid function in disease states. The eyelids serve several important ocular functions, the primary objectives of which are protection of the anterior globe from injury and maintenance of the ocular tear film. Typical eyelid behaviors to perform these functions include blinking (voluntary, spontaneous, or reflexive), voluntary eye closure (gentle or forced), partial lid lowering during squinting, normal lid retraction during emotional states such as surprise or fear (startle reflex), and coordination of lid movements with vertical eye movements for maximal eye protection. Detailed description of the neurological innervation patterns and neurophysiology of each of these lid behaviors is provided. Abnormal lid function is divided by conditions resulting in excessive lid closure (cerebral ptosis, apraxia of lid opening, blepharospasm, oculomotor palsy, Horner's syndrome, myasthenia gravis, and mechanical) and those resulting in excessive lid opening (midbrain lid retraction, facial nerve palsy, and lid retraction due to orbital disease).
Spears, Catherine E.; Weber, Robert E.
Neurological impairment as discussed includes a range of disabilities referred to as neurological impairment: minimal brain dysfunction/damage, developmental disability, perceptual handicap, learning disability, hyperkinetic behavioral syndrome, and others. Defined are causes of neurological impairment and methods of diagnosis. Symptoms…
Buchholz, D W
Neurogenic dysphagia results from sensorimotor impairment of the oral and pharyngeal phases of swallowing due to a neurologic disorder. The symptoms of neurogenic dysphagia include drooling, difficulty initiating swallowing, nasal regurgitation, difficulty managing secretions, choke/cough episodes while feeding, and food sticking in the throat. If unrecognized and untreated, neurogenic dysphagia can lead to dehydration, malnutrition, and respiratory complications. The symptoms of neurogenic dysphagia may be relatively inapparent on account of both compensation for swallowing impairment and diminution of the laryngeal cough reflex due to a variety of factors. Patients with symptoms of oropharyngeal dysphagia should undergo videofluoroscopy of swallowing, which in the case of neurogenic dysphagia typically reveals impairment of oropharyngeal motor performance and/or laryngeal protection. The many causes of neurogenic dysphagia include stroke, head trauma, Parkinson's disease, motor neuron disease and myopathy. Evaluation of the cause of unexplained neurogenic dysphagia should include consultation by a neurologist, magnetic resonance imaging of the brain, blood tests (routine studies plus muscle enzymes, thyroid screening, vitamin B12 and anti-acetylcholine receptor antibodies), electromyography/nerve conduction studies, and, in certain cases, muscle biopsy or cerebrospinal fluid examination. Treatment of neurogenic dysphagia involves treatment of the underlying neurologic disorder (if possible), swallowing therapy (if oral feeding is reasonably safe to attempt) and gastrostomy (if oral feeding is unsafe or inadequate).
Zara, Gabriella; Codemo, Valentina; Palmieri, Arianna; Schiff, Sami; Cagnin, Annachiara; Citton, Valentina; Manara, Renzo
Hyperemesis gravidarum can impair correct absorption of an adequate amount of thiamine and can cause electrolyte imbalance. This study investigated the neurological complications in a pregnant woman with hyperemesis gravidarum. A 29-year-old pregnant woman was admitted for hyperemesis gravidarum. Besides undernutrition, a neurological examination disclosed weakness with hyporeflexia, ophthalmoparesis, multidirectional nystagmus and optic disks swelling; the patient became rapidly comatose. Brain MRI showed symmetric signal hyperintensity and swelling of periaqueductal area, hypothalamus and mammillary bodies, medial and posterior portions of the thalamus and columns of fornix, consistent with Wernicke encephalopathy (WE). Neurophysiological studies revealed an axonal sensory-motor polyneuropathy, likely due to thiamine deficiency or critical illness polyneuropathy. Sodium and potassium supplementation and parenteral thiamine were administered with improvement of consciousness state in a few days. WE evolved in Korsakoff syndrome. A repeat MRI showed a marked improvement of WE-related alterations and a new hyperintense lesion in the pons, suggestive of central pontine myelinolysis. No sign or symptom due to involvement of the pons was present.
Introduction The aim was to investigate the frequency of neurological adverse events in patients with rheumatoid arthritis (RA) and spondylarthropathies (SpA) treated with tumor necrosis factor (TNF) α antagonists. Methods Seventy-seven patients eligible for anti-TNFα therapy were evaluated. There were 36 patients with RA, 41 with SpA [24 psoriatic arthritis (PsA) and 17 with ankylosing spondylitis (AS)]. All patients had a complete physical and neurological examination. Brain and cervical spine magnetic resonance imaging (MRI) and neurophysiological tests were performed in all patients before the initiation of anti-TNFα therapy and after a mean of 18 months or when clinical symptoms and signs indicated a neurological disease. Exclusion criteria included hypertension, diabetes mellitus, dyslipidemia, heart arrhythmias, atherothrombotic events, vitamin B12 and iron deficiency, head and neck trauma and neurological surgeries. Results Two patients did not receive anti-TNFα therapy because brain MRIs at baseline revealed lesions compatible with demyelinating diseases. Thus, 75 patients received anti-TNFα (38 infliximab, 19 adalimumab and 18 etanercept). Three patients developed neurological adverse events. A 35-year-old man with PsA after 8 months of infliximab therapy presented with paresis of the left facial nerve and brain MRI showed demyelinating lesions. Infliximab was discontinued and he was treated with pulses of corticosteroids recovering completely after two months. The second patient was a 45-year-old woman with RA who after 6 months of adalimumab therapy presented with optic neuritis. The third patient was a 50-year-old woman with AS, whom after 25 months of infliximab therapy, presented with tingling and numbness of the lower extremities and neurophysiological tests revealed peripheral neuropathy. In both patients anti-TNF were discontinued and they improved without treatment after 2 months. The rest of our patients showed no symptoms and MRIs
Background To describe the neurologic profiles of Rhizomelic chondrodysplasia punctata (RCDP); a peroxisomal disorder clinically characterized by skeletal abnormalities, congenital cataracts, severe growth and developmental impairments and immobility of joints. Defective plasmalogen biosynthesis is the main biochemical feature. Methods Observational study including review of clinical and biochemical abnormalities, genotype, presence of seizures and neurophysiological studies of a cohort of 16 patients with RCDP. Results Patients with the severe phenotype nearly failed to achieve any motor or cognitive skills, whereas patients with the milder phenotype had profound intellectual disability but were able to walk and had verbal communication skills. Eighty-eight percent of patients developed epileptic seizures. The age of onset paralleled the severity of the clinical and biochemical phenotype. Myoclonic jerks, followed by atypical absences were most frequently observed. All patients with clinical seizures had interictal encephalographic evidence of epilepsy. Visual evoked (VEP) and brain auditory potential (BAEP) studies showed initial normal latency times in 93% of patients. Deterioration of VEP occurred in a minority in both the severe and the milder phenotype. BAEP and somatosensory evoked potentials (SSEP) were more likely to become abnormal in the severe phenotype. Plasmalogens were deficient in all patients. In the milder phenotype levels of plasmalogens were significantly higher in erythrocytes than in the severe phenotype. Phytanic acid levels ranged from normal to severely increased, but had no relation with the neurological phenotype. Conclusion Neurodevelopmental deficits and age-related occurrence of seizures are characteristic of RCDP and are related to the rest-activity in plasmalogen biosynthesis. Evoked potential studies are more likely to become abnormal in the severe phenotype, but are of no predictive value in single cases of RCDP. PMID:24172221
Krook-Magnuson, Esther; Gelinas, Jennifer N; Soltesz, Ivan; Buzsáki, György
Brain-implanted devices are no longer a futuristic idea. Traditionally, therapies for most neurological disorders are adjusted based on changes in clinical symptoms and diagnostic measures observed over time. These therapies are commonly pharmacological or surgical, requiring continuous or irreversible treatment regimens that cannot respond rapidly to fluctuations of symptoms or isolated episodes of dysfunction. In contrast, closed-loop systems provide intervention only when needed by detecting abnormal neurological signals and modulating them with instantaneous feedback. Closed-loop systems have been applied to several neurological conditions (most notably epilepsy and movement disorders), but widespread use is limited by conceptual and technical challenges. Herein, we discuss how advances in experimental closed-loop systems hold promise for improved clinical benefit in patients with neurological disorders.
Haar, Shlomi; Berman, Sigal; Behrmann, Marlene; Dinstein, Ilan
Substantial controversy exists regarding the presence and significance of anatomical abnormalities in autism spectrum disorders (ASD). The release of the Autism Brain Imaging Data Exchange (∼1000 participants, age 6-65 years) offers an unprecedented opportunity to conduct large-scale comparisons of anatomical MRI scans across groups and to resolve many of the outstanding questions. Comprehensive univariate analyses using volumetric, thickness, and surface area measures of over 180 anatomically defined brain areas, revealed significantly larger ventricular volumes, smaller corpus callosum volume (central segment only), and several cortical areas with increased thickness in the ASD group. Previously reported anatomical abnormalities in ASD including larger intracranial volumes, smaller cerebellar volumes, and larger amygdala volumes were not substantiated by the current study. In addition, multivariate classification analyses yielded modest decoding accuracies of individuals' group identity (<60%), suggesting that the examined anatomical measures are of limited diagnostic utility for ASD. While anatomical abnormalities may be present in distinct subgroups of ASD individuals, the current findings show that many previously reported anatomical measures are likely to be of low clinical and scientific significance for understanding ASD neuropathology as a whole in individuals 6-35 years old.
Pazzi, S; Cristiani, P; Cavallini, A
The most relevant problems related to the management of neurological disorders are (i) the frequent hospitalization in nonspecialist departments, with the need for neurological consultation, and (ii) the frequent requests of GPs for highly specialized investigations that are very expensive and of little value in arriving at a correct diagnosis. In 1996, the Consorzio di Bioingegneria e Informatica Medica in Italy realized the CISNet project (in collaboration with the Consorzio Istituti Scientifici Neuroscienze e Tecnologie Biomediche and funded by the Centro Studi of the National Public Health Council) for the implementation of a national neurological excellence centers network (CISNet). In the CISNet project, neurologists will be able to give on-line interactive consultation and off-line consulting services identifying correct diagnostic/therapeutic procedures, evaluating the need for both examination in specialist centers and admission to specialized centers, and identifying the most appropriate ones.
Douglas, M R; Peake, D; Sturman, S G; Sivaguru, A; Clarke, C E; Nicholl, D J
Neurological conditions comprise a significant proportion of patient admissions to hospital but, in the majority of cases, are admitted under the care of non-neurological physicians. As a consequence, neurological ward consultations are commonly requested by the admitting medical teams to review diagnoses and management plans. The outcomes of neurological ward consultations were examined and the time required for the referral process recorded by performing a detailed prospective three-month audit of inpatient referrals to the neurology service. The consultations of 120 patients were recorded, categorised and analysed. These consultations were beneficial in the vast majority of cases, with a clear impact on patient diagnoses or management plans. The consultation process was time consuming, however, both in respect of the initial review, but also with follow-up visits. This audit highlights the importance of neurological input in the diagnosis and management of hospital inpatients. The time taken for this process should be resourced appropriately.
Sussman, J; Leach, M; Greaves, M; Malia, R; Davies-Jones, G A
OBJECTIVE: Benign intracranial hypertension (BIH) may be caused by intracranial venous sinus thrombosis. Cerebral angiograms may, however, be normal in patients with BIH that are associated with conditions with an increased risk of venous thrombosis. This raises the possibility that unrecognised non-occlusive venous thrombus might impede CSF drainage. This study therefore examined the strength of the association between risk factors for thrombosis and BIH. METHODS: The incidence of prothrombotic abnormalities among a mixed prospectively and retrospectively investigated cohort of 38 patients with BIH, was compared with healthy obese subjects, and patients with other neurological diseases. Prothrombotic abnormalities investigated included anticardiolipin antibodies, lupus anticoagulant, antithrombin III, proteins C and S, plasma fibrinogen, kaolin cephalin clotting time, prothrombin time, and full blood counts. RESULTS: Evidence for the presence of an antiphospholipid antibody was found in 32% of cases. Cases of familial deficiency of antithrombin III, thrombocytosis, and polycythaemia were also noted. Additionally, an increased concentration of plasma fibrinogen was found in 26%. A coagulation abnormality was more often detectable in those subjects with normal or low body mass index and in those tested within six months of onset. CONCLUSION: There is a thrombotic pathogenesis in some cases of BIH. Images PMID:9069476
Guiraud-Chaumeil, Bernard; Pariente, Jérémie; Albucher, Jean-François; Loubinoux, Isabelle; Chollet, François
Stroke is one of the most common affliction of patients with neurological symptoms. Rehabilitation of stroke patients is a difficult task. Our knowledge on rehabilitation has recently improved with the emergence of data from new neuroimaging techniques. A prospective, double blind, cross over, placebo, controlled study on 8 patients with pure motor hemiparesia, is conducted to determine the influence of a single dose of fluoxetine on motor performance and cerebral activation of patients recovering from stroke. Each patient undergoes two functional magnetic resonance imaging (fMRI) examinations, one under fluoxetine and one under placebo. A single dose of fluoxetine is enough to modulate cerebral sensori-motor activation and significantly improves motor skills of the affected side. Further studies are required to investigate the effect of chronic administration of fluoxetine on motor function.
Valvular heart disease (VHD) is frequently associated with neurologic complications; cerebral embolism is the most common of these since thrombus formation results from the abnormalities in the valvular surfaces or from the anatomic and physiologic changes associated with valve dysfunction, such as atrial or ventricular enlargement, intracardiac thrombi, and cardiac dysrhythmias. Prosthetic heart valves, particularly mechanical valves, are very thrombogenic, which explains the high risk of thromboembolism and the need for anticoagulation for the prevention of embolism. Infective endocarditis is a disease process with protean manifestations that include not only cerebral embolism but also intracranial hemorrhage, mycotic aneurysms, and systemic manifestations such as fever and encephalopathy. Other neurologic complications include nonbacterial thrombotic endocarditis, a process associated with systemic diseases such as cancer and systemic lupus erythematosus. For many of these conditions, anticoagulation is the mainstay of treatment to prevent cerebral embolism, therefore it is the potential complications of anticoagulation that can explain other neurologic complications in patients with VHD. The prevention and management of these complications requires an understanding of their natural history in order to balance the risks posed by valvular disease itself against the risks and benefits associated with treatment.
Simonato, Michele; Bennett, Jean; Boulis, Nicholas M.; Castro, Maria G.; Fink, David J.; Goins, William F.; Gray, Steven J.; Lowenstein, Pedro R.; Vandenberghe, Luk H.; Wilson, Thomas J.; Wolfe, John H.; Glorioso, Joseph C.
Diseases of the nervous system have devastating effects and are widely distributed among the population, being especially prevalent in the elderly. These diseases are often caused by inherited genetic mutations that result in abnormal nervous system development, neurodegeneration, or impaired neuronal function. Other causes of neurological diseases include genetic and epigenetic changes induced by environmental insults, injury, disease-related events or inflammatory processes. Standard medical and surgical practice has not proved effective in curing or treating these diseases, and appropriate pharmaceuticals do not exist or are insufficient to slow disease progression. Gene therapy is emerging as a powerful approach with potential to treat and even cure some of the most common diseases of the nervous system. Gene therapy for neurological diseases has been made possible through progress in understanding the underlying disease mechanisms, particularly those involving sensory neurons, and also by improvement of gene vector design, therapeutic gene selection, and methods of delivery. Progress in the field has renewed our optimism for gene therapy as a treatment modality that can be used by neurologists, ophthalmologists and neurosurgeons. In this Review, we describe the promising gene therapy strategies that have the potential to treat patients with neurological diseases and discuss prospects for future development of gene therapy. PMID:23609618
Simonato, Michele; Bennett, Jean; Boulis, Nicholas M; Castro, Maria G; Fink, David J; Goins, William F; Gray, Steven J; Lowenstein, Pedro R; Vandenberghe, Luk H; Wilson, Thomas J; Wolfe, John H; Glorioso, Joseph C
Diseases of the nervous system have devastating effects and are widely distributed among the population, being especially prevalent in the elderly. These diseases are often caused by inherited genetic mutations that result in abnormal nervous system development, neurodegeneration, or impaired neuronal function. Other causes of neurological diseases include genetic and epigenetic changes induced by environmental insults, injury, disease-related events or inflammatory processes. Standard medical and surgical practice has not proved effective in curing or treating these diseases, and appropriate pharmaceuticals do not exist or are insufficient to slow disease progression. Gene therapy is emerging as a powerful approach with potential to treat and even cure some of the most common diseases of the nervous system. Gene therapy for neurological diseases has been made possible through progress in understanding the underlying disease mechanisms, particularly those involving sensory neurons, and also by improvement of gene vector design, therapeutic gene selection, and methods of delivery. Progress in the field has renewed our optimism for gene therapy as a treatment modality that can be used by neurologists, ophthalmologists and neurosurgeons. In this Review, we describe the promising gene therapy strategies that have the potential to treat patients with neurological diseases and discuss prospects for future development of gene therapy.
Massey, E Wayne; Moon, Richard E
Diving exposes a person to the combined effects of increased ambient pressure and immersion. The reduction in pressure when surfacing can precipitate decompression sickness (DCS), caused by bubble formation within tissues due to inert gas supersaturation. Arterial gas embolism (AGE) can also occur due to pulmonary barotrauma as a result of breath holding during ascent or gas trapping due to disease, causing lung hyperexpansion, rupture and direct entry of alveolar gas into the blood. Bubble disease due to either DCS or AGE is collectively known as decompression illness. Tissue and intravascular bubbles can induce a cascade of events resulting in CNS injury. Manifestations of decompression illness can vary in severity, from mild (paresthesias, joint pains, fatigue) to severe (vertigo, hearing loss, paraplegia, quadriplegia). Particularly as these conditions are uncommon, early recognition is essential to provide appropriate management, consisting of first aid oxygen, targeted fluid resuscitation and hyperbaric oxygen, which is the definitive treatment. Less common neurologic conditions that do not require hyperbaric oxygen include rupture of a labyrinthine window due to inadequate equalization of middle ear pressure during descent, which can precipitate vertigo and hearing loss. Sinus and middle ear overpressurization during ascent can compress the trigeminal and facial nerves respectively, causing temporary facial hypesthesia and lower motor neuron facial weakness. Some conditions preclude safe diving, such as seizure disorders, since a convulsion underwater is likely to be fatal. Preventive measures to reduce neurologic complications of diving include exclusion of individuals with specific medical conditions and safe diving procedures, particularly related to descent and ascent.
Neves, Eduardo Borba; Vilaça-Alves, José; Rosa, Claudio; Reis, Victor Machado
One kind of medical images that has been developed in the last decades is thermal images. These images are assessed by infrared cameras and have shown an exponential development in recent years. In this sense, the aim of this study was to describe possibilities of thermography usage in the neurologic practice. It was performed a systematic review in Web of Knowledge (Thompson Reuters), set in all databases which used two combination of keywords as “topic”: “thermography” and “neurology”; and “thermography” and “neurologic”. The chronological period was defined from 2000 to 2014 (the least 15 years). Among the studies included in this review, only seven were with experimental design. It is few to bring thermography as a daily tool in clinical practice. However, these studies have suggested good results. The studies of review and an analyzed patent showed that the authors consider the thermography as a diagnostic tool and they recommend its usage. It can be concluded that thermography is already used as a diagnostic and monitoring tool of patients with neuropathies, particularly in complex regional pain syndrome, and stroke. And yet, this tool has great potential for future research about its application in diagnosis of other diseases of neurological origin. PMID:26191090
Tubbs, R S; McGirt, M J; Warder, D E; Oakes, W J
We review and describe the neurological presentation and long-term outcome of patients with meningocele manqué, and describe the dysraphic features associated with this entity. Our series of patients was collected over a 25-year period with a mean follow-up of 11.5 years. The mean age of presentation was 10.4 years and 72% of the patients presented with an abnormal neurological examination. At most recent follow-up, symptoms were stable, improved, and progressed in 47, 37 and 16%, respectively. Meningocele manqué was associated with focal hirsutism in 37% of the cases. These bands were primarily found in the lumbar spine and involved two sequential vertebral levels in 42% of cases. Sectioning of meningocele manqué has good long-term results in the majority of patients. These bands should be sought in the evaluation of patients with spinal dysraphism and surgically transected.
Dallara, Alexis; Meret, Anca; Saroyan, John
Objectives of this review were to examine definitions and background of palliative care, as well as address whether there is an increased need for palliative care education among neurologists. The review also explores what literature exists regarding palliative care within general neurology and child neurology. A literature review was conducted examining use of palliative care within child neurology. More than 100 articles and textbooks were retrieved and reviewed. Expert guidelines stress the importance of expertise in palliative care among neurologists. Subspecialties written about in child neurology include that of peripheral nervous system disorders, neurodegenerative diseases, and metabolic disorders. Adult and child neurology patients have a great need for improved palliative care services, as they frequently develop cumulative physical and cognitive disabilities over time and cope with decreasing quality of life before reaching the terminal stage of their illness.
Smith, Harvey E; Rynning, Ralph E; Okafor, Chukwuka; Zaslavsky, James; Tracy, Joseph I; Ratliff, John; Harrop, James; Albert, Todd; Hilibrand, Alan; Anderson, Gregory; Sharan, Ashwini; Brown, Zoe; Vaccaro, Alexander R
Background/Objective: A patient presenting with an acute neurologic deficit with no apparent etiology presents a diagnostic dilemma. A broad differential diagnosis must be entertained, considering both organic and psychiatric causes. Methods: A case report and thorough literature review of acute paraplegia after a low-energy trauma without a discernible organic etiology. Results: Diagnostic imaging excluded any bony malalignment or fracture and any abnormality on magnetic resonance imaging. When no organic etiology was identified, a multidisciplinary approach using neurology, psychiatry, and physical medicine and rehabilitation services was applied. Neurophysiologic testing confirmed the absence of an organic disorder, and at this juncture, diagnostic efforts focused on identifying any psychiatric disorder to facilitate appropriate treatment for this individual. The final diagnosis was malingering. Conclusions: The full psychiatric differential diagnosis should be considered in the evaluation of any patient with an atypical presentation of paralysis. A thorough clinical examination in combination with the appropriate diagnostic studies can confidently exclude an organic disorder. When considering a psychiatric disorder, the differential diagnosis should include conversion disorder and malingering, although each must remain a diagnosis of exclusion. Maintaining a broad differential diagnosis and involving multiple disciplines (neurology, psychiatry, social work, medical specialists) early in the evaluation of atypical paralysis may facilitate earlier diagnosis and initiation of treatment for the underlying etiology. PMID:18092568
The certainty of the initial diagnosis of epilepsy was assessed prospectively by one neurologist in outpatients. One hundred and fifty-eight consecutive referrals with loss of consciousness or possible epilepsy were seen. The relative contributions to the initial diagnosis from the referral letter, history taking in clinic, physical examination, and investigation were compared. There was a referring diagnosis in 28.5%. The neurologist reached a diagnosis in 87% of the 158 cases: in 43% epilepsy, 25% syncope, 12% non-epileptic seizures and in 7% other diagnoses. There was a low correlation between referral and specialist diagnosis. Physical examination did not change the diagnosis in any patient. Investigations changed the diagnosis in one patient. Neuro-imaging revealed a relevant abnormality in 12/43 (27.9%) scanned. The yield from EEG was 7/25 (28%), but the EEG changed the diagnosis in only one case. Cardiac testing confirmed the type of syncope in 2/47 (4.3%) of patients. Blood tests did not contribute to the diagnosis in any patient. The neurology consultation significantly increased diagnostic certainty. The diagnosis of epilepsy remains largely clinical. It is important that patients are aware of this prior to investigation.
Lindberg, Nina; Tani, Pekka; Stenberg, Jan-Henry; Appelberg, Björn; Porkka-Heiskanen, Tarja; Virkkunen, Matti
Neurological soft signs (NSS) are characterized by abnormalities in motor, sensory, and integrative functions. NSS have been regarded as a result of neurodevelopmental dysfunction, and as evidence of a central nervous system defect, resulting in considerable sociopsychological dysfunction. During the last decade there has been growing evidence of brain dysfunction in severe aggressive behavior. As a symptom, aggression overlaps a number of psychiatric disorders, but it is commonly associated with antisocial personality disorder. The aim of the present study was to examine NSS in an adult criminal population using the scale by Rossi et al. . Subjects comprised 14 homicidal men with antisocial personality disorder recruited from a forensic psychiatric examination. Ten age- and gender-matched healthy volunteers as well as eight patients with schizophrenia, but no history of physical aggression, served as controls. The NSS scores of antisocial offenders were significantly increased compared with those of the healthy controls, whereas no significant differences were observed between the scores of offenders and those of patients with schizophrenia. It can be speculated that NSS indicate a nonspecific vulnerability factor in several psychiatric syndromes, which are further influenced by a variety of genetic and environmental components. One of these syndromes may be antisocial personality disorder with severe aggression.
Mir, Tanveer P.
The equivalence of brain death with death is largely, although not universally accepted. Patients may have suffered insults such as cardiac arrest, vascular catastrophe, poisoning, or head trauma. Early identification of patients at greatest risk of poor neurologic outcome and management in the appropriate critical care setting is the key to maximizing neurological recovery. Recent technological advances and neuroimaging have made it possible to predict neurological reversibility with great accuracy. Significant improvements in therapy such as hypothermia, will improve outcomes in neurological catastrophies, particularly in anoxic-ischemic encephalopathy. The clinical spectrum and diagnostic criteria of minimally conscious and vegetative states is reviewed. The current understanding of the differences in prognosis and prediction of meaningful cognitive and functional recovery in each neurological state is described. Establishing an understanding of the ethical principles that guide medical decisions in clinical practice related to different neurological states is evolving into a new field called neuroethics. PMID:23610514
Wilmshurst, Jo M; Badoe, Eben; Wammanda, Robinson D; Mallewa, Macpherson; Kakooza-Mwesige, Angelina; Venter, Andre; Newton, Charles R
The first African Child Neurology Association meeting identified key challenges that the continent faces to improve the health of children with neurology disorders. The capacity to diagnose common neurologic conditions and rare disorders is lacking. The burden of neurologic disease on the continent is not known, and this lack of knowledge limits the ability to lobby for better health care provision. Inability to practice in resource-limited settings has led to the migration of skilled professionals away from Africa. Referral systems from primary to tertiary are often unpredictable and chaotic. There is a lack of access to reliable supplies of basic neurology treatments such as antiepileptic drugs. Few countries have nationally accepted guidelines either for the management of epilepsy or status epilepticus. There is a great need to develop better training capacity across Africa in the recognition and management of neurologic conditions in children, from primary health care to the subspecialist level.
Planas Vilà, Mercè
The central nervous system regulates food intake, homoeostasis of glucose and electrolytes, and starts the sensations of hunger and satiety. Different nutritional factors are involved in the pathogenesis of several neurological diseases. Patients with acute neurological diseases (traumatic brain injury, cerebral vascular accident hemorrhagic or ischemic, spinal cord injuries, and cancer) and chronic neurological diseases (Alzheimer's Disease and other dementias, amyotrophic lateral sclerosis, Parkinson's Disease) increase the risk of malnutrition by multiple factors related to nutrient ingestion, abnormalities in the energy expenditure, changes in eating behavior, gastrointestinal changes, and by side effects of drugs administered. Patients with acute neurological diseases have in common the presence of hyper metabolism and hyper catabolism both associated to a period of prolonged fasting mainly for the frequent gastrointestinal complications, many times as a side effect of drugs administered. During the acute phase, spinal cord injuries presented a reduction in the energy expenditure but an increase in the nitrogen elimination. In order to correct the negative nitrogen balance increase intakes is performed with the result of a hyper alimentation that should be avoided due to the complications resulting. In patients with chronic neurological diseases and in the acute phase of cerebrovascular accident, dysphagia could be present which also affects intakes. Several chronic neurological diseases have also dementia, which lead to alterations in the eating behavior. The presence of malnutrition complicates the clinical evolution, increases muscular atrophy with higher incidence of respiratory failure and less capacity to disphagia recuperation, alters the immune response with higher rate of infections, increases the likelihood of fractures and of pressure ulcers, increases the incapacity degree and is an independent factor to increase mortality. The periodic nutritional
Jones, Salazar; Schwartzbauer, Gary; Jia, Xiaofeng
Assessment of neurologic injury and the evolution of severe neurologic injury is limited in comatose or critically ill patients that lack a reliable neurologic examination. For common yet severe pathologies such as the comatose state after cardiac arrest, aneurysmal subarachnoid hemorrhage (aSAH), and severe traumatic brain injury (TBI), critical medical decisions are made on the basis of the neurologic injury. Decisions regarding active intensive care management, need for neurosurgical intervention, and withdrawal of care, depend on a reliable, high-quality assessment of the true state of neurologic injury, and have traditionally relied on limited assessments such as intracranial pressure monitoring and electroencephalogram. However, even within TBI there exists a spectrum of disease that is likely not captured by such limited monitoring and thus a more directed effort towards obtaining a more robust biophysical signature of the individual patient must be undertaken. In this review, multimodal monitoring including the most promising serum markers of neuronal injury, cerebral microdialysis, brain tissue oxygenation, and pressure reactivity index to access brain microenvironment will be discussed with their utility among specific pathologies that may help determine a more complete picture of the neurologic injury state for active intensive care management and long-term outcomes. Goal-directed therapy guided by a multi-modality approach appears to be superior to standard intracranial pressure (ICP) guided therapy and should be explored further across multiple pathologies. Future directions including the application of optogenetics to evaluate brain injury and recovery and even as an adjunct monitoring modality will also be discussed. PMID:28035993
Hellmuth, Jerome, Ed.
Designed as a complement to Volume 1 on the normal infant (available as EC 003 414), the text examines the following areas: neurological examination of the newborn, neurobehavioral organization of the newborn, neuropsychology examinations in young children, learning of motor skills on the basis of self-induced movements, factors in vulnerability…
Pengiran, T; Wills, A; Holmes, G
A variety of neurological disorders have been reported in association with coeliac disease including epilepsy, ataxia, neuropathy, and myelopathy. The nature of this association is unclear and whether a specific neurological complication occurs in coeliac disease remains unproved. Malabsorption may lead to vitamin and trace element deficiencies. Therefore, patients who develop neurological dysfunction should be carefully screened for these. However, malabsorption does not satisfactorily explain the pathophysiology and clinical course of many of the associated neurological disorders. Other mechanisms proposed include altered autoimmunity, heredity, and gluten toxicity. This review attempts to summarise the literature and suggests directions for future research. PMID:12151653
Idro, Richard; Newton, Charles; Kiguli, Sarah; Kakooza-Mwesige, Angelina
Neurological disorders, including neurodevelopmental disorders, have been identified by the World Health Organization (WHO) as one of the greatest threats to global public health. It is generally believed that these conditions are more prevalent in the developing than the developed world because of multiple known risk factors such as infections, malnutrition, and limited resources for obstetric and neonatal management. In East Africa, few investigations have been conducted to obtain data on the magnitude and description of neurological disorders among children, and the practice of child neurology is faced with challenges cutting across areas of health personnel, patient diagnosis, management, and rehabilitation. This article reviews the burden, types, and causes of neurological disorders in the East African region. The challenges and successes in the practice of child neurology and recommendations for the future are discussed.
Seki, M; Takizawa, T; Suzuki, S; Shimizu, T; Shibata, H; Ishii, T; Hasegawa, T; Suzuki, N
We report a 48-year-old Japanese woman with phenylketonuria (PKU) who presented with severe neurological symptoms more than 30 years after discontinuation of dietary treatment. She was diagnosed with PKU at 6-years-old and was treated with a phenylalanine restricted diet until she was 15 years old. When she was 48-years-old she started having difficulty walking. After several months, she presented with severe disturbance of consciousness and was admitted. She was diagnosed as having neurological complications associated with PKU. We observed temporal changes in her laboratory data, brain MRI and single-photon emission computed tomography (SPECT) scan findings. Brain MRI on T2-weighted, fluid-attenuated inversion recovery and diffusion-weighted images revealed high intensity lesions in her bilateral frontal lobes and 123I-IMP SPECT showed marked and diffuse hypoperfusion in the bilateral cerebrum and cerebellum. After the resumption of dietary treatment, serum phenylalanine concentrations immediately decreased to the normal range. However, her neurological symptoms took longer to improve. We also found no clear temporal association between MRI findings and clinical severity. SPECT abnormalities showed marked improvement after treatment. It is well known that PKU patients who discontinue the dietary restriction from their childhood develop minor neurological impairments. However, PKU patients with late-onset severe neurological symptoms are very rare. To our knowledge, this is the first report regarding SPECT findings of PKU patients with late-onset severe neurological deterioration.
Bickenbach, Johannes; Biener, Ingeborg; Czaplik, Michael; Nolte, Kay; Dembinski, Rolf; Marx, Gernot; Rossaint, Rolf; Fries, Michael
We examined the influences of acute lung injury and hypoxia on neurological outcome. Functional performance was assessed using a neurocognitive test and a neurologic deficit score (NDS) five days before. On experimental day, mechanically ventilated pigs were randomized to hypoxia only (HO group, n=5) or to acute lung injury (ALI group, n=5). Hemodynamics, respiratory mechanics, systemic cytokines and further physiologic variables were obtained at baseline, at the time of ALI, 2, 4 and 8h thereafter. Subsequently, injured lungs were recruited and animals weaned from the ventilator. Neurocognitive testing was re-examined for five days. Then, brains were harvested for neurohistopathology. After the experiment, neurocognitive performance was significantly worsened and the NDS increased in the ALI group. Histopathology revealed no significant differences. Oxygenation was comparable between groups although significantly higher inspiratory pressures occured after ALI. Cytokines showed a trend towards higher levels after ALI. Neurocognitive compromise after ALI seems due to a more pronounced inflammatory response and complex mechanical ventilation.
Chen, Jefferson William; Vakil-Gilani, Kiana; Williamson, Kay Lyn; Cecil, Sandy
Pupillary dysfunction, a concerning finding in the neurologic examination of the patient with an acute traumatic brain injury often dictates the subsequent treatment paradigm. Patients were monitored closely with an infrared pupillometer, with NPi technology, for acute changes in pupillary function. NPi technology applies a scalar value to pupillary function. A retrospective chart review was performed of traumatic brain injury patients with acute unilateral pupillary dilation, admitted to Legacy Emanuel Medical Center's NeuroTrauma Unit, Portland, OR, and followed as outpatients, between January 2012 and December 2013. Clinical exam findings of pupillary size, NPi scores, and brain Magnetic Resonance Imaging and Computed Tomography images were analyzed. Five traumatic brain injury patients were identified with unilateral pupillary dysfunction with long-term follow-up after the initial injury. Each patient was monitored closely in the trauma bay for neurological deterioration with a pupillometer and the clinical exam. Two patients underwent subsequent intracranial pressure monitoring based on a deteriorating clinical scenario, including consistent abnormal unilateral NPi scores. One patient with consistent abnormal NPi scores and an improved clinical exam did not undergo invasive interventions. Two patients showed early improvement in NPi scores correlating with the normalization of their pupillary reactivity. Anisocoria improved in all patients despite concurrent abnormal NPi scores. Magnetic Resonance Imaging and Computed Tomography imaging studies, with a focus on the third nerve, revealed focal abnormalities consistent with the clinical findings. A unilateral blown pupil and abnormal NPi score in a traumatic brain injury patient are not necessarily indicative of intracranial pressure issues, and must be correlated with the entire clinical scenario, to determine the etiology of the third nerve injury and direct potential therapeutic interventions. Early NPi score
Narita, Aya; Shirai, Kentarou; Kubota, Norika; Takayama, Rumiko; Takahashi, Yukitoshi; Onuki, Takanori; Numakura, Chikahiko; Kato, Mitsuhiro; Hamada, Yusuke; Sakai, Norio; Ohno, Atsuko; Asami, Maya; Matsushita, Shoko; Hayashi, Anri; Kumada, Tomohiro; Fujii, Tatsuya; Horino, Asako; Inoue, Takeshi; Kuki, Ichiro; Asakawa, Ken; Ishikawa, Hitoshi; Ohno, Koyo; Nishimura, Yoko; Tamasaki, Akiko; Maegaki, Yoshihiro; Ohno, Kousaku
The hallmark of neuronopathic Gaucher disease (GD) is oculomotor abnormalities, but ophthalmological assessment is difficult in uncooperative patients. Chromatic pupillometry is a quantitative method to assess the pupillary light reflex (PLR) with minimal patient cooperation. Thus, we investigated whether chromatic pupillometry could be useful for neurological evaluations in GD. In our neuronopathic GD patients, red light-induced PLR was markedly impaired, whereas blue light-induced PLR was relatively spared. In addition, patients with non-neuronopathic GD showed no abnormalities. These novel findings show that chromatic pupillometry is a convenient method to detect neurological signs and monitor the course of disease in neuronopathic GD. PMID:25356393
Progress in basic neurosciences and advances in technology in the last decades have contributed to clarification of neural mechanisms in behavior or cognition in health and disease. They have elaborated diagnosis and treatment of nervous diseases remarkably. Needs in neurologists in both primary and specific medical services are rapidly increasing, with aging society and progresses in medical care in Japan. Attraction of neurology for students and junior residents is a great concern of Japanese Society of Neurology. In the undergraduate education, recent achievement in basic neurosciences including neurogenetics, molecular cytology, physio-pathology and imaging technique should be taught comprehensively. In the early postgraduate course for two years, neurology is either elective or obligatory depending on the curriculum of training institutions. Work at the stroke care unit is strongly recommended in the course of emergency service, which is mandatory. Experiences in acute infectious diseases, in various stages of neurodegenerative diseases, in collaboration with other specialist doctors for systemic diseases including metabolic or collagen diseases, in collaboration with other medical personnel in care of dementia are all included in advanced stages of postgraduate education before board examination. In summary, studies for practical services as well as clinical researches, teaching of symptoms and signs based on neural functions, and socio-economical issues for chronic nervous diseases in aged society are important in the education in neurology.
McLennan, Michael K.; Marotta, Thomas R.; TerBrugge, Karel G.; Marotta, Joseph T.
The family physician is often called upon to diagnose a range of adult neurologic disorders. Clinical history, physical examination, laboratory tests, and imaging studies are required to discover their cause. Various imaging modalities can be used to evaluate common adult disorders of the central nervous system. ImagesFigures 1-2Figure 3Figure 4Figures 5-6Figures 7-8Figures 9-11 PMID:21229013
Pareja, J A; Gil-Nagel, A
Cerebral cortical activity is constant throughout the entire human life, but substantially changes during the different phases of the sleep-wake cycle (wakefulness, non-REM sleep and REM sleep), as well as in relation to available information. In particular, perception of the environment is closely linked to the wake-state, while during sleep perception turns to the internal domain or endogenous cerebral activity. External and internal information are mutually exclusive. During wakefulness a neuronal mechanism allows attention to focus on the environment whereas endogenous cortical activity is ignored. The opposite process is provided during sleep. The function external attention-internal attention is coupled with the two modes of brain function during wakefulness and during sleep, providing two possible cortical status: thinking and dreaming. Several neurological processes may influence the declaration of the three states of being or may modify their orderly oscillation through the sleep-wake cycle. In addition, endogenous information and its perception (dreams) may be modified. Disturbances of dreaming may configurate in different general clinical scenarios: lack of dreaming, excess of dreaming (epic dreaming), paroxysmal dreaming (epileptic), nightmares, violent dreaming, daytime-dreaming (hallucinations), and lucid dreaming. Sensorial deprivation, as well as the emergence of internal perception may be the underlying mechanism of hallucinations. The probable isomorphism between hallucinations and dreaming is postulated, analyzed and discussed.
Kranick, Sarah M.; Hallett, Mark
Neurological disorders of volition may be characterized by deficits in willing and/or agency. When we move our bodies through space, it is the sense that we intended to move (willing) and that our actions were a consequence of this intention (self-agency) that gives us the sense of voluntariness and a general feeling of being “in control.” While it is possible to have movements that share executive machinery ordinarily used for voluntary movement but lack a sense of voluntariness, such as psychogenic movement disorders, it is also possible to claim volition for presumed involuntary movements (early chorea) or even when no movement is produced (anosognosia). The study of such patients should enlighten traditional models of how the percepts of volition are generated in the brain with regards to movement. We discuss volition and its components as multi-leveled processes with feedforward and feedback information flow, and dependence on prior expectations as well as external and internal cues. PMID:23329204
Neurologic itch is defined as pruritus resulting from any dysfunction of the nervous system. Itch arising due to a neuroanatomic pathology is seen to be neuropathic. Causes of neuropathic itch range from localized entrapment of a peripheral nerve to generalized degeneration of small nerve fibers. Antipruritic medications commonly used for other types of itch such as antihistamines and corticosteroids lack efficacy in neuropathic itch. Currently there are no therapeutic options that offer relief in all types of neuropathic pruritus, and treatment strategies vary according to etiology. It is best to decide on the appropriate tests and procedures in collaboration with a neurologist during the initial work-up. Treatment of neuropathic itch includes general antipruritic measures, local or systemic pharmacotherapy, various physical modalities, and surgery. Surgical intervention is the obvious choice of therapy in cases of spinal or cerebral mass, abscess, or hemorrhagic stroke, and may provide decompression in entrapment neuropathies. Symptomatic treatment is needed in the vast majority of patients. General antipruritic measures should be encouraged. Local treatment agents with at least some antipruritic effect include capsaicin, local anesthetics, doxepin, tacrolimus, and botulinum toxin A. Current systemic therapy relies on anticonvulsants such as gabapentin and pregabalin. Phototherapy, transcutaneous electrical nerve stimulation, and physical therapy have also been of value in selected cases. Among the avenues to be explored are transcranial magnetic stimulation of the brain, new topical cannabinoid receptor agonists, various modes of acupuncture, a holistic approach with healing touch, and cell transplantation to the spinal cord.
Sathiakumar, N; Delzell, E; MacLennan, P; Anne, M; Rosenberg, N; Cheng, H; Myers, S
Aims: To evaluate the relation between an indicator of cumulative exposure to triallate and selected measures of neurological function, including nerve conduction, the prevalence of certain neurological deficits as determined by a medical examination, and vibration perception threshold testing in workers at a pesticide manufacturing plant. Methods: Subjects were 50 workers with high estimated triallate exposure ("high triallate" group) and 50 workers with no or low triallate exposure ("no/low triallate" group). Industrial hygienists used existing work histories and personal knowledge of plant operations to develop a triallate score. In-person interviews elicited information on past medical history and on occupational and non-occupational exposures. A neurologist carried out nerve conduction tests of the sural and the peroneal nerves, a standardised neurological examination, and vibration sensation testing. Results: Differences between the high and the no/low triallate groups were minimal for all but one of the six nerve conduction tests, for the prevalence of neurological abnormalities, and for vibration sensation perception. The high triallate group had lower mean sural nerve peak amplitude than the no/low triallate group (11.7 v 15.2 µV, p = 0.03). This difference was reduced when adjusted for other potential risk factors (12.5 v 14.5 µV, p = 0.25) and was not associated with cumulative triallate score. We also noted several associations between factors other than triallate and nerve conduction measures. Conclusion: The results were consistent with the absence of an association between triallate and measures of neurological function. PMID:15477288
Wilde, Elisabeth A; McCauley, Stephen R; Kelly, Tara M; Weyand, Annie M; Pedroza, Claudia; Levin, Harvey S; Clifton, Guy L; Schnelle, Kathleen P; Shah, Monika V; Moretti, Paolo
The Neurological Outcome Scale for Traumatic Brain Injury (NOS-TBI) is a measure adapted from the National Institutes of Health Stroke Scale (NIHSS), and is intended to capture essential neurological deficits impacting individuals with traumatic brain injury (TBI) (see Wilde et al., 2010 ). In the present study we evaluate the measure's construct validity via comparison with a quantified neurological examination performed by a neurologist. Spearman rank-order correlation between the NOS-TBI and the neurological examination was rho = 0.76, p < 0.0001, suggesting a high degree of correspondence (construct validity) between these two measures of neurological function. Additionally, items from the NOS-TBI compared favorably to the neurological examination items, with correlations ranging from 0.60 to 0.99 (all p < 0.0001). On formal neurological examination, some degree of neurological impairment was observed in every participant in this cohort of individuals undergoing rehabilitation for TBI, and on the NOS-TBI neurological impairment was evident in all but one participant. This study documents the presence of measurable neurological sequelae in a sample of patients with TBI in a post-acute rehabilitation setting, underscoring the need for formal measurement of the frequency and severity of neurological deficits in this population. The results suggest that the NOS-TBI is a valid measure of neurological functioning in patients with TBI.
Arbabi, Mohammad; Paast, Negin; Karim, Hamid Reza; Faghfori, Sara; Memari, Amir Hossein
The aim of the present study was to determine whether patients with borderline personality disorder (BPD) show any neurological soft signs compared to healthy controls. Furthermore we sought to examine the role of common symptoms related to BPD, such as depression, anxiety or impulsivity, in association with neurological soft signs. Thirty patients with borderline personality disorder and thirty hospital-based controls were examined for neurological soft signs. The total score of neurological soft signs in BPD was significantly higher than controls. In terms of subscales, patients had higher scores in Sensory Integration and Motor Coordination and other neurological soft signs compared to control group. Multiple regression analysis showed that the impulsivity score was the best significant predictor of neurological soft signs in BPD. The increase of neurological soft signs in patients with BPD may address a non-focal neurological dysfunction in borderline personality disorder.
... cause. Can a longstanding head turn lead to any permanent problems? Yes, a significant abnormal head posture could cause permanent ... occipitocervical synostosis and unilateral hearing loss. Are there any ... postures? Yes. Abnormal head postures can usually be improved depending ...
... PROBLEMS Abnormal Uterine Bleeding • What is a normal menstrual cycle? • When is bleeding abnormal? • At what ages is ... treat abnormal bleeding? •Glossary What is a normal menstrual cycle? The normal length of the menstrual cycle is ...
Jaffee, Michael S
It can be seen that aspects of different environments can have adverse effects on normal, healthy nervous systems. Aerospace and underwater neurology consultants are often required to evaluate aviators, divers, or astronauts who have neurologic problem to determine whether they should be granted a waiver. In general, these considerations include course of the disorder (static, progressive, or paroxysmal), potential for sudden incapacitation that may compromise safety, predictability of course of the disorder, ability to monitor disease, and potential adverse effects of medications. A background in the toxic effects of an abnormal environment on the nervous system can be used to make better clinical judgements when considering effects of exposing someone with an abnormal nervous system to such environmental stressors.
Hove, Michael J.; Keller, Peter E.
Timing abnormalities have been reported in many neurological disorders, including Parkinson’s disease (PD). In PD, motor-timing impairments are especially debilitating in gait. Despite impaired audiomotor synchronization, PD patients’ gait improves when they walk with an auditory metronome or with music. Building on that research, we make recommendations for optimizing sensory cues to improve the efficacy of rhythmic cuing in gait rehabilitation. Adaptive rhythmic metronomes (that synchronize with the patient’s walking) might be especially effective. In a recent study we showed that adaptive metronomes synchronized consistently with Parkinson patients’ footsteps without requiring attention; this improved stability and reinstated healthy gait dynamics. Other strategies could help optimize sensory cues for gait rehabilitation. Groove music strongly engages the motor system and induces movement; bass-frequency tones are associated with movement and provide strong timing cues. Thus, groove and bass-frequency pulses could deliver potent rhythmic cues. These strategies capitalize on the close neural connections between auditory and motor networks; and auditory cues are typically preferred. However, moving visual cues greatly improve visuomotor synchronization and could warrant examination in gait rehabilitation. Together, a treatment approach that employs groove, auditory, bass-frequency, and adaptive (GABA) cues could help optimize rhythmic sensory cues for treating motor and timing deficits. PMID:25773624
Wan, Catherine Y.; Rüber, Theodor; Hohmann, Anja; Schlaug, Gottfried
Music making (playing an instrument or singing) is a multimodal activity that involves the integration of auditory and sensorimotor processes. The ability to sing in humans is evident from infancy, and does not depend on formal vocal training but can be enhanced by training. Given the behavioral similarities between singing and speaking, as well as the shared and distinct neural correlates of both, researchers have begun to examine whether singing can be used to treat some of the speech-motor abnormalities associated with various neurological conditions. This paper reviews recent evidence on the therapeutic effects of singing, and how it can potentially ameliorate some of the speech deficits associated with conditions such as stuttering, Parkinson's disease, acquired brain lesions, and autism. By reviewing the status quo, it is hoped that future research can help to disentangle the relative contribution of factors to why singing works. This may ultimately lead to the development of specialized or “gold-standard” treatments for these disorders, and to an improvement in the quality of life for patients. PMID:21152359
Schmutzhard, E; Pfausler, B
Over the past decades, the incidence of sepsis and resultant neurologic sequelae has increased, both in industrialized and low- or middle-income countries, by approximately 5% per year. Up to 300 patients per 100 000 population per year are reported to suffer from sepsis, severe sepsis, and septic shock. Mortality is up to 30%, depending on the precision of diagnostic criteria. The increasing incidence of sepsis is partially explained by demographic changes in society, with aging, increasing numbers of immunocompromised patients, dissemination of multiresistant pathogens, and greater availability of supportive medical care in both industrialized and middle-income countries. This results in more septic patients being admitted to intensive care units. Septic encephalopathy is a manifestation especially of severe sepsis and septic shock where the neurologist plays a crucial role in diagnosis and management. It is well known that timely treatment of sepsis improves outcome and that septic encephalopathy may precede other signs and symptoms. Particularly in the elderly and immunocompromised patient, the brain may be the first organ to show signs of failure. The neurologist diagnosing early septic encephalopathy may therefore contribute to the optimal management of septic patients. The brain is not only an organ failing in sepsis (a "sepsis victim" - as with other organs), but it also overwhelmingly influences all inflammatory processes on a variety of pathophysiologic levels, thus contributing to the initiation and propagation of septic processes. Therefore, the best possible pathophysiologic understanding of septic encephalopathy is essential for its management, and the earliest possible therapy is crucial to prevent the evolution of septic encephalopathy, brain failure, and poor prognosis.
Freeze, Hudson H.; Eklund, Erik A.; Ng, Bobby G.; Patterson, Marc C.
This review will present principles of glycosylation, describe the relevant glycosylation pathways and their related disorders, and highlight some of the neurological aspects and issues that continue to challenge researchers. Over 100 rare human genetic disorders that result from deficiencies in the different glycosylation pathways are known today. Most of these disorders impact the central and/or peripheral nervous systems. Patients typically have developmental delay/intellectual disability, hypotonia, seizures, neuropathy, and metabolic abnormalities in multiple organ systems. Between these disorders there is great clinical diversity because all cell types differentially glycosylate proteins and lipids. The patients have hundreds of mis-glycosylated products afflicting a myriad of processes including cell signaling, cell-cell interaction and cell migration. This vast complexity in glycan composition and function, along with limited analytic tools has impeded the identification of key glycosylated molecules that cause pathologies, and to date few critical target proteins have been pinpointed. PMID:25840006
Murrison, A W; Glasspool, E; Pethybridge, R J; Francis, T J; Sedgwick, E M
OBJECTIVE--To examine the possibility that subclinical damage may persist after clinical recovery from neurological decompression illness. METHODS--The neuraxes of 71 divers with medical histories of neurological decompression illness and 37 non-diver controls were examined by recording the somatosensory evoked potentials produced on stimulation of the posterior tibial and median nerves. RESULTS--Although the tests gave some objective support for the presence of "soft" residual neurological symptoms and signs, no evidence was given for the presence of subclinical damage. CONCLUSIONS--The contention that neurological damage persists after full clinical recovery from the neurological decompression illness was not supported. PMID:7849848
Farooqui, Akhlaq A; Farooqui, Tahira; Panza, Francesco; Frisardi, Vincenza
The metabolic syndrome is a cluster of common pathologies: abdominal obesity linked to an excess of visceral fat, insulin resistance, dyslipidemia and hypertension. At the molecular level, metabolic syndrome is accompanied not only by dysregulation in the expression of adipokines (cytokines and chemokines), but also by alterations in levels of leptin, a peptide hormone released by white adipose tissue. These changes modulate immune response and inflammation that lead to alterations in the hypothalamic 'bodyweight/appetite/satiety set point,' resulting in the initiation and development of metabolic syndrome. Metabolic syndrome is a risk factor for neurological disorders such as stroke, depression and Alzheimer's disease. The molecular mechanism underlying the mirror relationship between metabolic syndrome and neurological disorders is not fully understood. However, it is becoming increasingly evident that all cellular and biochemical alterations observed in metabolic syndrome like impairment of endothelial cell function, abnormality in essential fatty acid metabolism and alterations in lipid mediators along with abnormal insulin/leptin signaling may represent a pathological bridge between metabolic syndrome and neurological disorders such as stroke, Alzheimer's disease and depression. The purpose of this review is not only to describe the involvement of brain in the pathogenesis of metabolic syndrome, but also to link the pathogenesis of metabolic syndrome with neurochemical changes in stroke, Alzheimer's disease and depression to a wider audience of neuroscientists with the hope that this discussion will initiate more studies on the relationship between metabolic syndrome and neurological disorders.
Orsini, Marco; Leite, Marco Antonio Araujo; Chung, Tae Mo; Bocca, Wladimir; de Souza, Jano Alves; de Souza, Olivia Gameiro; Moreira, Rayele Priscila; Bastos, Victor Hugo; Teixeira, Silmar; Oliveira, Acary Bulle; Moraes, Bruno da Silva; Matta, André Palma; Jacinto, Luis Jorge
This paper reviews the current and most neurological (central nervous system, CNS) uses of the botulinum neurotoxin type A. The effect of these toxins at neuromuscular junction lends themselves to neurological diseases of muscle overactivity, particularly abnormalities of muscle control. There are seven serotypes of the toxin, each with a specific activity at the molecular level. Currently, serotypes A (in two preparations) and B are available for clinical purpose, and they have proved to be safe and effective for the treatment of dystonia, spasticity, headache, and other CNS disorders in which muscle hyperactivity gives rise to symptoms. Although initially thought to inhibit acetylcholine release only at the neuromuscular junction, botulinum toxins are now recognized to inhibit acetylcholine release at autonomic cholinergic nerve terminals, as well as peripheral release of neuro-transmitters involved in pain regulation. Its effects are transient and nondestructive, and largely limited to the area in which it is administered. These effects are also graded according to the dose, allowing individualized treatment of patients and disorders. It may also prove to be useful in the control of autonomic dysfunction and sialorrhea. In over 20 years of use in humans, botulinum toxin has accumulated a considerable safety record, and in many cases represents relief for thousands of patients unaided by other therapy. PMID:26487928
Venkataraman, Akila; Adams, Robert J
Sickle cell disease (SCD) is a group of genetic blood disorders that vary in severity, but the most severe forms, primarily homozygous sickle cell anemia, are associated with neurologic complications. Over the last 90 years it has become established that some patients will develop severe arterial disease of the intracranial brain arteries and suffer brain infarction. Smaller infarctions and brain atrophy may also be seen and over time there appear to be negative cognitive effects in some patients, with or without abnormal brain imaging. Focal mononeuropathies and pneumococcal meningitis are also more common in these patients. Brain infarction in children can largely be prevented screening children beginning at age 2 years and instituting regular blood transfusion when the Doppler indicates high stroke risk (>200cm/sec). Iron overload and the uncertain duration of transfusion are disadvantages but overall this approach, tested in a randomized clinical trial, reduced first stroke by over 90%. Secondary stroke prevention has not been subjected to a randomized controlled trial except for one recently stopped comparison of regular transfusions compared to hydroxuyrea (results favored transfusion). The usual stroke prevention agents (such as aspirin or warfarin) have not been rigorously tested. Magnetic resonance imaging and positron emission tomography give evidence of subtle and sometimes overt brain injury due to stroke in many adults, but a preventive strategy for adults with SCD has not been developed. Bone marrow transplantation is the only cure, but some non-neurologic symptoms can be controlled in adults with hydroxuyrea.
Fujisawa, Haruki; Takagi, Hiroshi; Mizoguchi, Hiroyuki; Takeuchi, Hideyuki; Izumida, Hisakazu; Nakashima, Kohtaro; Ochiai, Hiroshi; Takeuchi, Seiji; Kiyota, Atsushi; Fukumoto, Kazuya; Iwama, Shintaro; Takagishi, Yoshiko; Hayashi, Yoshitaka; Arima, Hiroshi; Komatsu, Yukio; Murata, Yoshiharu; Oiso, Yutaka
Hyponatremia is the most common clinical electrolyte disorder. Once thought to be asymptomatic in response to adaptation by the brain, recent evidence suggests that chronic hyponatremia may be linked to attention deficits, gait disturbances, risk of falls, and cognitive impairments. Such neurologic defects are associated with a reduction in quality of life and may be a significant cause of mortality. However, because underlying diseases such as adrenal insufficiency, heart failure, liver cirrhosis, and cancer may also affect brain function, the contribution of hyponatremia alone to neurologic manifestations and the underlying mechanisms remain unclear. Using a syndrome of inappropriate secretion of antidiuretic hormone rat model, we show here that sustained reduction of serum sodium ion concentration induced gait disturbances; facilitated the extinction of a contextual fear memory; caused cognitive impairment in a novel object recognition test; and impaired long-term potentiation at hippocampal CA3–CA1 synapses. In vivo microdialysis revealed an elevated extracellular glutamate concentration in the hippocampus of chronically hyponatremic rats. A sustained low extracellular sodium ion concentration also decreased glutamate uptake by primary astrocyte cultures, suggesting an underlying mechanism of impaired long-term potentiation. Furthermore, gait and memory performances of corrected hyponatremic rats were equivalent to those of control rats. Thus, these results suggest chronic hyponatremia in humans may cause gait disturbance and cognitive impairment, but these abnormalities are reversible and careful correction of this condition may improve quality of life and reduce mortality. PMID:26376860
Bandmann, Oliver; Weiss, Karl Heinz; Kaler, Stephen G
The copper metabolism disorder Wilson's disease was first defined in 1912. Wilson's disease can present with hepatic and neurological deficits, including dystonia and parkinsonism. Early-onset presentations in infancy and late-onset manifestations in adults older than 70 years of age are now well recognised. Direct genetic testing for ATP7B mutations are increasingly available to confirm the clinical diagnosis of Wilson's disease, and results from biochemical and genetic prevalence studies suggest that Wilson's disease might be much more common than previously estimated. Early diagnosis of Wilson's disease is crucial to ensure that patients can be started on adequate treatment, but uncertainty remains about the best possible choice of medication. Furthermore, Wilson's disease needs to be differentiated from other conditions that also present clinically with hepatolenticular degeneration or share biochemical abnormalities with Wilson's disease, such as reduced serum ceruloplasmin concentrations. Disordered copper metabolism is also associated with other neurological conditions, including a subtype of axonal neuropathy due to ATP7A mutations and the late-onset neurodegenerative disorders Alzheimer's disease and Parkinson's disease.
Hundsberger, Thomas; Roth, Patrick; Roelcke, Ulrich
Neurological symptoms in cancer patients have a great impact on quality of life and need an interdisciplinary approach. They lead to significant impairment in activities of daily living (gait disorders, dizziness), a loss of patients independency (vegetative disturbances, wheel-chair dependency) and interfere with social activities (ban of driving in case of epilepsy). In this article we describe three main and serious neurological problems in the context of oncological patients. These are chemotherapy-induced polyneuropathy, malignant spinal cord compression and epileptic seizures. Our aim is to increase the awareness of neurological complications in cancer patients to improve patients care.
Bruun, Marie; Højgaard, Joan L Sunnleyg; Kondziella, Daniel
Acute vertigo of neurological origin may be caused by haemorrhages and tumours in the posterior fossa and, most frequently, by ischaemic infarction in the vertebrobasilar circulation. Urgent diagnosis is necessary to avoid further ischaemic episodes, herniation due to cerebellar oedema and/or fatal brainstem infarction. The history should focus on accompanying neurological symptoms. However, vertigo with cerebellar lesions may be monosymptomatic and then bedside evaluation of oculomotor function is the key to correct diagnosis. This paper discusses the pathophysiology, symptomatology and clinical evaluation of acute vertigo of neurological origin.
McDonagh, David L; Berger, Miles; Mathew, Joseph P; Graffagnino, Carmelo; Milano, Carmelo A; Newman, Mark F
As increasing numbers of elderly people undergo cardiac surgery, neurologists are frequently called upon to assess patients with neurological complications from the procedure. Some complications mandate acute intervention, whereas others need longer term observation and management. A large amount of published literature exists about these complications and guidance on best practice is constantly changing. Similarly, despite technological advances in surgical intervention and modifications in surgical technique to make cardiac procedures safer, these advances often create new avenues for neurological injury. Accordingly, rapid and precise neurological assessment and therapeutic intervention rests on a solid understanding of the evidence base and procedural variables.
Koehler, P J; Bruyn, G W; Moffie, D
The Netherlands Society of Neurology evolved from the Society of Psychiatry founded in 1871. The name was changed into Netherlands Society of Psychiatry and Neurology (NSPN) in 1897. In the same year, the word neurology was also added to the name of the journal. The Society steadily blossomed, but in 1909 the first signs of dissatisfaction occurred: the Amsterdam Neurologists Society was founded. A few split-offs would follow. The number of members of the NSPN increased from 205 in 1920 to 585 in 1960. In the early 1960s, the Society was reorganised and would consist of two sections, one for psychiatry and one for neurology. However, this would not last, as a full separation was established in 1974. For several reasons, the name of the journal was changed four times until it assumed its present name in 1974. The 100th volume of CNN was not published, as expected. in 1996, but in 1998, because of two skipped publication years, one during WWII and another in the 1970s. During the last decades of the nineteenth century, teaching of neurology was mostly given within the frame of psychiatry, following the German tradition of 'brainpsychiatry' (organic or biologic psychiatry). The first official chair of psychiatry was founded at Utrecht, 1893 (Winkler). In Amsterdam, private teachers such as Delprat taught 'electro-therapy and nervous diseases' since the 1880s. The first extraordinary chair of neurology and electrotherapy was founded for his successor, Wertheim Salomonson in 1899. The first university clinic for psychiatry and neurology started at the Amsterdam Municipal University, when Winkler became professor of psychiatry and neurology in Amsterdam in 1896. Around the turn of the century, chairs of psychiatry and neurology were also founded in Groningen and Leiden. Separate chairs for neurology and psychiatry appeared in Amsterdam in 1923 and in Utrecht in 1936. Following an initiative of Brouwer, the first neurological university clinic opened its doors in
Davis, E; Fennoy, I; Laraque, D; Kanem, N; Brown, G; Mitchell, J
Cocaine in all forms is the number one illicit drug of choice among pregnant women. Records of 70 children with cocaine exposure in utero who were referred for developmental evaluation at a large inner-city hospital were reviewed in an effort to determine whether a specific pattern of abnormalities could be discerned. Patients received physical examinations, neurological screenings, and behavioral and developmental assessments based on the Gesell Developmental Inventory, and the Denver Developmental Screening Test. Documentation of specified drug use was obtained by history. Mean age (SEM) at referral was 19.2 (1.7) months. All mothers used cocaine in one of its forms, although polydrug use was common. Growth parameters were low (median = 15th percentile). Significant neurodevelopmental abnormalities were observed, including language delay in 94% of the children and an extremely high frequency of autism (11.4%). The high rate of autistic disorders not known to occur in children exposed to alcohol or opiates alone suggests specific cocaine effects.
Bever, C T; Grattan, L; Morris, J G
Although the recently identified dinoflagellate, Pfiesteria piscicida, may have neurotoxic effects on humans, the precise nature of the neurologic symptoms associated with varying levels of exposure is unknown. Toward this end, we review the neurologic symptoms of three Pfiesteria-exposed laboratory workers reported to data and compare them to the evaluation of an exposed waterman from Maryland. The occupational exposure of a Maryland waterman appears to produce a mild, reversible encephalopathy which predominantly affects functions associated with the frontal and temporal lobes. A comprehensive neurologic examination is recommended for all Pfiesteria piscicida and morphologically related organism-exposed, symptomatic persons.
Woźniak, Karol; Mulawka, Jan
The aim of this paper is to design and implement information system containing large database dedicated to support neurological-psychiatric examinations focused on human brain after stroke. This approach encompasses the following steps: analysis of software requirements, presentation of the problem solving concept, design and implementation of the final information system. Certain experiments were performed in order to verify the correctness of the project ideas. The approach can be considered as an interdisciplinary venture. Elaboration of the system architecture, data model and the tools supporting medical examinations are provided. The achievement of the design goals is demonstrated in the final conclusion.
Goodman, Jerry Clay
Obesity has attained pandemic proportions, and bariatric surgery is increasingly being employed resulting in turn to more neurological complications which must be recognized and managed. Neurological complications may result from mechanical or inflammatory mechanisms but primarily result from micro-nutritional deficiencies. Vitamin B12, thiamine, and copper constitute the most frequent deficiencies. Neurological complications may occur at reasonably predictable times after bariatric surgery and are associated with the type of surgery used. During the early post-operative period, compressive or stretch peripheral nerve injury, rhabdomyolysis, Wernicke's encephalopathy, and inflammatory polyradiculoneuropathy may occur. Late complications ensue after months to years and include combined system degeneration (vitamin B12 deficiency) and hypocupric myelopathy. Bariatric surgery patients require careful nutritional follow-up with routine monitoring of micronutrients at 6 weeks and 3, 6, and 12 months post-operatively and then annually after surgery and multivitamin supplementation for life. Sustained vigilance for common and rare neurological complications is essential.
Sufferers from neurologic and psychiatric disorders are not uncommonly defendants in criminal trials. This chapter surveys a variety of different ways in which neurologic disorder bears on criminal responsibility. It discusses the way in which a neurologic disorder might bear on the questions of whether or not the defendant acted voluntarily; whether or not he or she was in the mental state that is required for guilt for the crime; and whether or not he or she is deserving of an insanity defense. The discussion demonstrates that a just determination of whether a sufferer from a neurologic disorder is diminished in his or her criminal responsibility for harmful conduct requires equal appreciation of the nature of the relevant disorder and its impact on behavior, on the one hand, and of the legal import of facts about the psychologic mechanisms through which behavior is generated, on the other.
Hellmann-Regen, Julian; Piber, Dominique; Hinkelmann, Kim; Gold, Stefan M; Heesen, Christoph; Spitzer, Carsten; Endres, Matthias; Otte, Christian
Depressive syndromes represent a common and often characteristic feature in a number of neurological disorders. One prominent example is the development of post-stroke depression, which can be observed in more than one-third of stroke survivors in the aftermath of an ischemic stroke. Thus, post-stroke depression represents one of the most prevalent, disabling, and potentially devastating psychiatric post-stroke complications. On the other hand, depressive syndromes may also be considered as a risk factor for certain neurological disorders, as recently revealed by a meta-analysis of prospective cohort studies, which demonstrated an increased risk for ischemic events in depressed patients. Moreover, depressive syndromes represent common comorbidities in a number of other neurological disorders such as Parkinson's disease, multiple sclerosis, or epilepsy, in which depression has a strong impact on both quality of life and outcome of the primary neurological disorder.
Morris, Nicholas A.; Matiello, Marcelo; Samuels, Martin A.
Neurologic complications of infective endocarditis (IE) are common and frequently life threatening. Neurologic events are not always obvious. The prediction and management of neurologic complications of IE are not easily approached algorithmically, and the impact they have on timing and ability to surgically repair or replace the affected valve often requires a painstaking evaluation and joint effort across multiple medical disciplines in order to achieve the best possible outcome. Although specific recommendations are always tailored to the individual patient, there are some guiding principles that can be used to help direct the decision-making process. Herein, we review the pathophysiology, epidemiology, manifestations, and diagnosis of neurological complications of IE and further consider the impact they have on clinical decision making. PMID:25360207
Mishra, Shrikant; Trikamji, Bhavesh; Singh, Sandeep; Singh, Parampreet; Nair, Rajasekharan
Objective: To chronicle the history of medicine and neurology in India with a focus on its establishment and evolution. Background: The history of neurology in India is divided into two periods: ancient and modern. The ancient period dates back to the mid-second millennium Before Christ (B.C.) during the creation of the Ayurvedic Indian system of Medicine, which detailed descriptions of neurological disorders called Vata Vyadhi. The early 20th century witnessed the birth of modern Indian medicine with the onset of formal physician training at the nation's first allopathic medical colleges located in Madras (1835), Calcutta (1835) and Mumbai (1848). Prior to India's independence from Britain in 1947, only 25 medical schools existed in the entire country. Today, there are over 355. In 1951, physicians across the field of neurology and neurosurgery united to create the Neurological Society of India (NSI). Four decades later in 1991, neurologists branched out to establish a separate organization called the Indian Academy of Neurology (IAN). Design/Methods: Information was gathered through literature review using PubMed, MD Consult, OVID, primary texts and research at various academic institutions in India. Results: Neurological disorders were first described in ancient India under Ayurveda. The transition to modern medicine occurred more recently through formal training at medical schools beginning in the 1930's. Early pioneers and founders of the NSI (1951) include Dr. Jacob Chandy, Dr. B Ramamurthi, Dr. S. T. Narasimhan and Dr. Baldev Singh. Later, Dr. J. S. Chopra, a prominent neurologist and visionary, recognized the need for primary centers of collaboration and subsequently established the IAN (1991). The future of Neurology in India is growing rapidly. Currently, there are 1100 practicing neurologists and more than 150 post-graduate trainees who join the ranks every year. As the number of neurologists rises across India, there is an increase in the amount of
Singhal, B S; Khadilkar, Satish V
The social and economic impact of neurologic disorders is being increasingly recognized in the developing world. Demographic transition, especially in large Asian populations, has resulted in a significant increase in the elderly population, bringing to the fore neurologic illnesses such as strokes, Alzheimer's disease, and Parkinson's disease. CNS infections such as retroviral diseases, tuberculosis, and malaria still account for high mortality and morbidity. Traumatic brain injury due to traffic accidents takes a high toll of life. Epilepsy continues to be a major health concern with large segments of the developing world's population receiving no treatment. A significant mismatch between the provision of specialized neurologic services and the requirement for them exists, especially in rural areas. Also, health insurance is not available for the majority, with patients having bear the costs themselves, thus limiting the procurement of available healthcare facilities. Neurologic training centers are few and the availability of laboratory facilities and equipment is largely limited to the metropolitan areas. Cultural practices, superstitious beliefs, ignorance, and social stigma may also impede the delivery of neurologic care. Optimizing available human resources, integrating primary, secondary, and tertiary healthcare tiers and making medical treatment more affordable will improve the neurologic care in the developing world.
Algahtani, Hussein A.; Khan, Abid S.; Khan, Muhammad A.; Aldarmahi, Ahmed A.; Lodhi, Yousif
Objective: To review and analyze the neurological complications from bariatric surgery in Kingdom of Saudi Arabia. Methods: This cross sectional study was carried out in King Abdulaziz Medical City, Jeddah, Kingdom of Saudi Arabia from January 2009 to December 2015. Important personal and clinical data were collected from the charts of the patients who underwent bariatric surgery. Data on follow up visit and remote complication if present, was also collected. All patients with neurological complications were reviewed in detail. The significant difference was calculated by using T-test and p-value<0.05 was considered significant. Results: A total of 451 patients underwent bariatric surgery, 15 cases had neurological complications (3%). Axonal polyneuropathy was the most frequent neurological complication, but cases of Wernicke syndrome, vitamin B12 deficiency, Guillain-Barre syndrome and copper deficiency were also identified. Fourteen patients (93.3%) had full recovery from the neurological signs and symptoms; one patient died. Conclusions: Bariatric surgery is not free of potential neurological complications. Complications may affect both central and peripheral nervous system and death is a possibility. Multidisciplinary care including consultation of different teams is highly recommended. PMID:27356656
Qazi, Q H; Mariano, E; Milman, D H; Beller, E; Crombleholme, W
5 newborn infants, whose mothers acknowledged steady use of marihuana prior to and during pregnancies, displayed symptoms of intrauterine growth retardation, neurological problems, and abnormal morphogenesis. These findings fit in with the experimental studies and surveys of pregnant human populations which have indicated that cannabis products have teratogenic potential, though rigorous proof must await further information.
Topal, Ilteris Oguz; Gungor, Sule; Kocaturk, Ozgur Emek; Duman, Hatice; Durmuscan, Mustafa
Background Vitiligo is an acquired pigmentary skin disorder affecting 0.1-4% of the general population. The nails may be affected in patients with an autoimmune disease such as psoriasis, and in those with alopecia areata. It has been suggested that nail abnormalities should be apparent in vitiligo patients. Objective We sought to document the frequency and clinical presentation of nail abnormalities in vitiligo patients compared to healthy volunteers. We also examined the correlations between nail abnormalities and various clinical parameters. Methods This study included 100 vitiligo patients and 100 healthy subjects. Full medical histories were collected from the subjects, who underwent thorough general and nail examinations. All nail changes were noted. In the event of clinical suspicion of a fungal infection, additional mycological investigations were performed. Results Nail abnormalities were more prevalent in the patients (78%) than in the controls (55%) (p=0.001). Longitudinal ridging was the most common finding (42%), followed by (in descending order): leukonychia, an absent lunula, onycholysis, nail bed pallor, onychomycosis, splinter hemorrhage and nail plate thinning. The frequency of longitudinal ridging was significantly higher in patients than in controls (p<0.001). Conclusions Nail abnormalities were more prevalent in vitiligo patients than in controls. Systematic examination of the nails in such patients is useful because nail abnormalities are frequent. However, the causes of such abnormalities require further study. Longitudinal ridging and leukonychia were the most common abnormalities observed in this study. PMID:27579738
de Haan, Bianca; Rorden, Chris; Karnath, Hans-Otto
Several functional magnetic resonance imaging (fMRI) studies of acute stroke have reported that patients with behavioral deficits show abnormal signal in intact regions of the damaged hemisphere close to the lesion border relative to homologous regions of the patient’s intact hemisphere (causing an interhemispheric imbalance) as well as analogous regions in healthy controls. These effects have been interpreted as demonstrating a causal relationship between the abnormal fMRI signal and the pathological behavior. Here we explore an alternative explanation: perhaps the abnormal Blood-Oxygenation Level Dependent (BOLD) fMRI signal is merely a function of distance from the acute lesion. To investigate this hypothesis, we examined three patients with an acute right hemisphere cortical stroke who did not show any overt behavioral deficits, as well as nine healthy elderly controls. We acquired fMRI data while the participants performed a simple visual orientation judgment task. In patients, we observed an abnormal interhemispheric balance consisting of lower levels of percent signal change in perilesional areas of the damaged hemisphere relative to homologous areas in neurologically healthy controls. This suggests that the physiological changes and corresponding interhemispheric imbalance detected by fMRI BOLD in acute stroke observed close to the lesion border may not necessarily reflect changes in the neural function, nor necessarily influence the individuals’ (e.g., attentional) behavior. PMID:24137123
Block, Valerie A. J.; Pitsch, Erica; Tahir, Peggy; Cree, Bruce A. C.; Allen, Diane D.; Gelfand, Jeffrey M.
Objective To perform a systematic review of studies using remote physical activity monitoring in neurological diseases, highlighting advances and determining gaps. Methods Studies were systematically identified in PubMed/MEDLINE, CINAHL and SCOPUS from January 2004 to December 2014 that monitored physical activity for ≥24 hours in adults with neurological diseases. Studies that measured only involuntary motor activity (tremor, seizures), energy expenditure or sleep were excluded. Feasibility, findings, and protocols were examined. Results 137 studies met inclusion criteria in multiple sclerosis (MS) (61 studies); stroke (41); Parkinson's Disease (PD) (20); dementia (11); traumatic brain injury (2) and ataxia (1). Physical activity levels measured by remote monitoring are consistently low in people with MS, stroke and dementia, and patterns of physical activity are altered in PD. In MS, decreased ambulatory activity assessed via remote monitoring is associated with greater disability and lower quality of life. In stroke, remote measures of upper limb function and ambulation are associated with functional recovery following rehabilitation and goal-directed interventions. In PD, remote monitoring may help to predict falls. In dementia, remote physical activity measures correlate with disease severity and can detect wandering. Conclusions These studies show that remote physical activity monitoring is feasible in neurological diseases, including in people with moderate to severe neurological disability. Remote monitoring can be a psychometrically sound and responsive way to assess physical activity in neurological disease. Further research is needed to ensure these tools provide meaningful information in the context of specific neurological disorders and patterns of neurological disability. PMID:27124611
Potvin, A R; Tourtellotte, W W; Syndulko, K; Potvin, J
Traditionally, neurologists have emphasized qualitative techniques for assessing results of clinical trials. However, in recent years qualitative evaluations have been increasingly augmented by quantitative tests for measuring neurologic functions pertaining to mental state, strength, steadiness, reactions, speed, coordination, sensation, fatigue, gait, station, and simulated activities of daily living. Quantitative tests have long been used by psychologists for evaluating asymptomatic function, assessing human information processing, and predicting proficiency in skilled tasks; however, their methodology has never been directly assessed for validity in a clinical environment. In this report, relevant contributions from the literature on asymptomatic human performance and that on clinical quantitative neurologic function are reviewed and assessed. While emphasis is focused on tests appropriate for evaluating clinical neurologic trials, evaluations of tests for reproducibility, reliability, validity, and examiner training procedures, and for effects of motivation, learning, handedness, age, and sex are also reported and interpreted. Examples of statistical strategies for data analysis, scoring systems, data reduction methods, and data display concepts are presented. Although investigative work still remains to be done, it appears that carefully selected and evaluated tests of sensory and motor function should be an essential factor for evaluating clinical trials in an objective manner.
Using the potentialities of isotope nephrograms as a screening test a total of 4746 patients suspected of renal abnormalities were examined. The author established pathological deviations in 561 cases (11.8%). During further verification using scintigraphy unsuspected congenital renal abnormalities (aplasia, hypoplasia, dystopia, double kidney, horseshoe kidney, solitary cyst and polycystic renal disease) were found in 46 patients (8.2%). The diagnosis was confirmed at subsequent venous x-ray urography. A conclusion has been made as to the role of comprehensive nephrographic-scintigraphic examination in the diagnosis of congenital renal abnormalities.
Newberry, Alyssa; Sherwood, Paula; Hricik, Allison; Bradley, Sarah; Kuo, Jean; Crago, Elizabeth; Hoffman, Leslie A.; Given, Barbara A.
Cognitive deficits in participants and the abrupt and traumatic way in which many neurological conditions present are two examples of the unique challenges in recruiting and retaining subjects with neurological injury for research studies. The purpose of this investigation was to identify obstacles to recruitment and retention in three ongoing research studies. These studies involve persons with neurological disorders across the continuum of care, from those newly diagnosed and with emergent presentation to those with more established, chronic neurological conditions. For the purpose of this analysis, we evaluated the effectiveness of the strategies employed to improve participation rates. The first study was an NIH funded project designed to identify biomarkers of vasospasm in persons (N=496) with aneurysmal subarachnoid hemorrhage (SAH) who presented to the neurovascular intensive care unit (NINR, RO1 NR004339). The purpose of the second study was to examine bio-behavioral interactions in family caregivers (N=59) of persons with a primary malignant brain tumor (PMBT) recruited in the community setting. The third project involved recruiting persons (N=1019) within an outpatient neurosurgical center to participate in a research registry. To determine differential effectiveness of strategies, consent and attrition rates were calculated at serial points over time in three studies and recruitment and retention strategies were compared. Sentinel time points in participants' disease trajectories played a key role in determining whether those who were approached to participate gave consent and were retained, particularly in the studies involving persons with aneurysmal SAH (consent = 85%; retention = 89%) and persons with PMBTs and their caregivers (consent = 68%; retention = 83%). In addition, several specific recruiter and interviewer training techniques were associated with higher recruitment and retention. Targeted strategies to improve participation rates are vital
Chapter 25, discusses structurally abnormal human autosomes. This discussion includes: structurally abnormal chromosomes, chromosomal polymorphisms, pericentric inversions, paracentric inversions, deletions or partial monosomies, cri du chat (cat cry) syndrome, ring chromosomes, insertions, duplication or pure partial trisomy and mosaicism. 71 refs., 8 figs.
Romeo, Stefano; Chiandetti, Alessio; Siracusano, Alberto; Troisi, Alfonso
Indirect evidence suggests partially common pathogenetic mechanisms for Neurological Soft Signs (NSS), neurocognition, and social cognition in schizophrenia. However, the possible association between NSS and mentalizing impairments has not yet been examined. In the present study, we assessed the ability to attribute mental states to others in patients with schizophrenia and predicted that the presence of theory of mind deficits would be significantly related to NSS. Participants were 90 clinically stable patients with a DSM-IV diagnosis of schizophrenia. NSS were assessed using the Neurological Evaluation Scale (NES). Theory of mind deficits were assessed using short verbal stories designed to measure false belief understanding. The findings of the study confirmed our hypothesis. Impaired sequencing of complex motor acts was the only neurological abnormality correlated with theory of mind deficits. By contrast, sensory integration, motor coordination and the NES Others subscale had no association with patients׳ ability to pass first- or second-order false belief tasks. If confirmed by future studies, the current findings provide the first preliminary evidence for the claim that specific NSS and theory of mind deficits may reflect overlapping neural substrates.
Sando, I; Orita, Y; Miura, M; Balaban, C D
This paper reviews the histopathologic features of vestibular abnormalities in congenital disorders affecting the inner ear, based upon a comprehensive literature survey and a review of cases in our temporal bone collection. The review proceeds in three systematic steps. First, we surveyed associated diseases with the major phenotypic features of congenital abnormalities of the inner ear (including the internal auditory canal and otic capsule). Second, the vestibular anomalies are examined specifically. Finally, the anomalies are discussed from a developmental perspective. Among vestibular anomalies, a hypoplastic endolymphatic duct and sac are observed most frequently. Anomalies of the semicircular canals are also often observed. From embryological and clinical viewpoints, many of these resemble the structural features from fetal stages and appear to be associated with vestibular dysfunction. It is expected that progress in genetic analysis and accumulation of temporal bone specimens with vestibular abnormalities in congenital diseases will provide crucial information not only for pathology of those diseases, but also for genetic factors that are responsible for the specific vestibular abnormalities.
loss, vision loss, and/or peripheral neuropathy . Level C patients are those who upon examination and history pose a possible fall risk, so appropriate...extremities, sensory loss, vision loss, and peripheral neuropathy . Given this high-risk population, it was imperative that falls are prevented from...settings Neurology Falls 21 (Parkinson’s disease, dementia, diabetic neuropathy , change in vision, gait, sensation or weakness, ageing
Rosińska, Justyna; Łukasik, Maria; Kozubski, Wojciech
The diver's nervous system is extremely sensitive to high ambient pressure, which is the sum of atmospheric and hydrostatic pressure. Neurological complications associated with diving are a difficult diagnostic and therapeutic challenge. They occur in both commercial and recreational diving and are connected with increasing interest in the sport of diving. Hence it is very important to know the possible complications associated with this kind of sport. Complications of the nervous system may result from decompression sickness, pulmonary barotrauma associated with cerebral arterial air embolism (AGE), otic and sinus barotrauma, high pressure neurological syndrome (HPNS) and undesirable effect of gases used for breathing. The purpose of this review is to discuss the range of neurological symptoms that can occur during diving accidents and also the role of patent foramen ovale (PFO) and internal carotid artery (ICA) dissection in pathogenesis of stroke in divers.
Hwang, Steven W; Jea, Andrew
Down syndrome is the most commonly encountered chromosomal translation and has been associated with significant congenital abnormalities in various organ systems. Along with classic facial findings, it may involve the gastroenterologic, cardiac, ophthalmologic, endocrine, immunologic, orthopedic, or neurologic systems. With respect to the neurological system, a higher incidence of moyamoya, seizure disorders, strokes, and spinal ligamentous laxity has been described in these children. We have summarized the current available literature with respect to children who have Down syndrome and the varying neurological pathologic entities associated to help health care providers better understand these patients.
Joseph Babinski (1857-1932) was an excellent clinician. André Breton, a French poet, described Babinski's way of clinical examination in his Manifeste du surréalisme (1924), which vividly revealed Babinski's meticulous character. Babinski is well known by his eponymous Babinski reflex. Although some predecessors had described this phenomenon briefly, its meaning was interpreted by Babinski. His contribution to neurological symptomatology was not restricted to his plantar skin reflex, but also to other wide area. In this article, symptoms described by Babinski, i.e. plantar skin reflex, cerebellar symptoms including cerebellar asynergy, adiadochokinesis, dysmetria, cerebellar catalepsy, and rising sign, platysma sign, anosognosia are explained and are critically discussed.
Alkhotani, Ashjan; Shirah, Bader
Background and Purpose Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an immune-mediated chorioretinal disease that causes acute visual symptoms with characteristic ophthalmoscopic findings. Neurological complications are rarely reported in the literature. Here we report two new cases of APMPPE that presented with neurological manifestations, one of which was associated with peripheral neuropathy, which has not been described before. Methods A retrospective database review of all patients with a diagnosis of APMPPE was performed. Clinical, ophthalmological, and neurological data were analyzed, and only cases of APMPPE with neurological complications were included. A literature review of several databases was also performed, and previous case reports were reviewed and analyzed in detail. Results In total, 56 cases of APMPPE-associated neurological complications were included in the analyses: 54 from the literature and 2 from our own practice. The most common complication was cerebral vasculitis, which affected 28 patients (50%), followed by headaches in 15 patients (26.8%). The other complications include sixth-cranial-nerve palsy, transient hearing loss, meningoencephalitis, cavernous sinus thrombosis, and viral meningitis. Conclusions This report adds to the literature of a novel association of APMPPE with peripheral neuropathy, and comprehensively reviews the neurological manifestations of this disease. A high level of suspicion should be applied when dealing with a case of APMPPE. We recommend applying detailed clinical neurological examinations and magnetic resonance imaging to APMPPE patients, and then early steroid treatment if the examination is positive or even suspicious. Early treatment with steroids and long-term treatment with immunosuppressive azathioprine with interval neurological evaluations will contribute positively to the outcomes and avoid fatal complications, namely strokes. PMID:27819416
Rosenfeld, Myrna R.
When patients with cancer develop neurologic symptoms, common causes include metastasis, infections, coagulopathy, metabolic or nutritional disturbances, and neurotoxicity from treatments. A thorough clinical history, temporal association with cancer therapies, and results of ancillary tests usually reveal one of these mechanisms as the etiology. When no etiology is identified, the diagnosis considered is often that of a paraneoplastic neurologic disorder (PND). With the recognition that PNDs are more frequent than previously thought, the availability of diagnostic tests, and the fact that, for some PNDs, treatment helps, PNDs should no longer be considered diagnostic zebras, and when appropriate should be included in the differential diagnosis early in the evaluation. PMID:20479279
Nentwich, Lauren M; Grimmnitz, Benjamin
Neurologic diseases are a major cause of death and disability in elderly patients. Due to the physiologic changes and increased comorbidities that occur as people age, neurologic diseases are more common in geriatric patients and a major cause of death and disability in this population. This article discusses the elderly patient presenting to the emergency department with acute ischemic stroke, transient ischemic attack, intracerebral hemorrhage, subarachnoid hemorrhage, chronic subdural hematoma, traumatic brain injury, seizures, and central nervous system infections. This article reviews the subtle presentations, difficult workups, and complicated treatment decisions as they pertain to our older patients."
Piechowski-Jozwiak, Bartlomiej; Bogousslavsky, Julien
Visual art production involves multiple processes including basic motor skills, such as coordination of movements, visual-spatial processing, emotional output, sociocultural context, and creativity. Thus, the relationship between artistic output and brain diseases is particularly complex, and brain disorders may lead to impairment of artistic production in multiple domains. Neurological conditions may also occasionally modify artistic style and lead to surprisingly innovative features in people with an initial loss of creativity. This chapter focuses on anecdotal reports of various neurological disorders and their potential consequences on works produced by famous or well-established artists, including Carl Frederik Reutersward, Giorgio de Chirico, Krystyna Habura, Leo Schnug, Ignatius Brennan, and many others.
Navi, Babak B.; Kamel, Hooman; Shah, Maulik P.; Grossman, Aaron W.; Wong, Christine; Poisson, Sharon N.; Whetstone, William D.; Josephson, S. Andrew; Johnston, S. Claiborne; Kim, Anthony S.
Objective To describe the rate and predictors of central nervous system (CNS) disease in emergency department (ED) patients with dizziness in the modern era of neuroimaging. Patients and Methods We retrospectively reviewed the medical records of all adults presenting between January 1, 2007, and December 31, 2009, to an academic ED for a primary triage complaint of dizziness, vertigo, or imbalance. The final diagnosis for the cause of dizziness was independently assigned by 2 neurologists, with a third neurologist resolving any disagreements. The primary outcome was a composite of ischemic stroke, intracranial hemorrhage, transient ischemic attack, seizure, brain tumor, demyelinating disease, and CNS infection. Univariate and multivariate logistic regression were used to assess the association between clinical variables and serious CNS causes of dizziness. Results Of 907 patients experiencing dizziness (mean age, 59 years; 58% women [n=529]), 49 (5%) had a serious neurologic diagnosis, including 37 cerebrovascular events. Dizziness was often caused by benign conditions, such as peripheral vertigo (294 patients [32%]) or orthostatic hypotension (121 patients [13%]). Age 60 years or older (odds ratio [OR], 5.7; 95% confidence interval [CI], 2.5-11.2), a chief complaint of imbalance (OR, 5.9; 95% CI, 2.3-15.2), and any focal examination abnormality (OR, 5.9; 95% CI, 3.1-11.2) were independently associated with serious neurologic diagnoses, whereas isolated dizziness symptoms were inversely associated (OR, 0.2; 95% CI, 0.0-0.7). Conclusion Dizziness in the ED is generally benign, although a substantial fraction of patients harbor serious neurologic disease. Clinical suspicion should be heightened for patients with advanced age, imbalance, or focal deficits. PMID:23063099
Ishibashi, Hidetoshi; Minakawa, Eiko N.; Motohashi, Hideyuki H.; Takayama, Osamu; Popiel, H. Akiko; Puentes, Sandra; Owari, Kensuke; Nakatani, Terumi; Nogami, Naotake; Yamamoto, Kazuhiro; Yonekawa, Takahiro; Tanaka, Yoko; Fujita, Naoko; Suzuki, Hikaru; Aizawa, Shu; Nagano, Seiichi; Yamada, Daisuke; Wada, Keiji; Kohsaka, Shinichi
Abstract Age-associated neurodegenerative diseases, such as Alzheimer’s disease, Parkinson’s disease, and the polyglutamine (polyQ) diseases, are becoming prevalent as a consequence of elongation of the human lifespan. Although various rodent models have been developed to study and overcome these diseases, they have limitations in their translational research utility owing to differences from humans in brain structure and function and in drug metabolism. Here, we generated a transgenic marmoset model of the polyQ diseases, showing progressive neurological symptoms including motor impairment. Seven transgenic marmosets were produced by lentiviral introduction of the human ataxin 3 gene with 120 CAG repeats encoding an expanded polyQ stretch. Although all offspring showed no neurological symptoms at birth, three marmosets with higher transgene expression developed neurological symptoms of varying degrees at 3–4 months after birth, followed by gradual decreases in body weight gain, spontaneous activity, and grip strength, indicating time-dependent disease progression. Pathological examinations revealed neurodegeneration and intranuclear polyQ protein inclusions accompanied by gliosis, which recapitulate the neuropathological features of polyQ disease patients. Consistent with neuronal loss in the cerebellum, brain MRI analyses in one living symptomatic marmoset detected enlargement of the fourth ventricle, which suggests cerebellar atrophy. Notably, successful germline transgene transmission was confirmed in the second-generation offspring derived from the symptomatic transgenic marmoset gamete. Because the accumulation of abnormal proteins is a shared pathomechanism among various neurodegenerative diseases, we suggest that this new marmoset model will contribute toward elucidating the pathomechanisms of and developing clinically applicable therapies for neurodegenerative diseases. PMID:28374014
Teive, Hélio Afonso Ghizoni; Paola, Luciano de; Munhoz, Renato Puppi
Edgar Allan Poe was one of the most celebrated writers of all time. He published several masterpieces, some of which include references to neurological diseases. Poe suffered from recurrent depression, suggesting a bipolar disorder, as well as alcohol and drug abuse, which in fact led to his death from complications related to alcoholism. Various hypotheses were put forward, including Wernicke's encephalopathy.
A program for neurological organization is explained and its purposes are stated. Hints are given for working with both child and parents; and form for evaluating measures of neuromotor fitness is included. Also provided is a checklist for rating motor exploration, including movements performed lying on the back, on the knees, or standing or on…
Goforth, Harold W; Murtaugh, Reed; Fernandez, Francisco
Neurologic aspects of drug abuse vary. This article explains the general nature of drug abuse, identifies the physiologic effects of certain drugs, and briefly describes the neurobiology of addiction. This article also reviews available treatment options for those addicted to substances of abuse, and clarifies common misconceptions, including the differences between tolerance, abuse, and addiction.
Huber, W. V.
Some of the neurological disorders and therapeutic devices are considered with which the Department of Health, Education, and Welfare (HEW) is most concerned. The organization of the Department, because it is a rather complex one with many different agencies involved, is also described.
Hysteria has served as an important driving force in the development of both neurology and psychiatry. Jean Martin Charcot's devotion to mesmerism for treating hysterical patients evoked the invention of psychoanalysis by Sigmund Freud. Meanwhile, Joseph Babinski took over the challenge to discriminate between organic and hysterical patients from Charcot and found Babinski's sign, the greatest milestone in modern neurological symptomatology. Nowadays, the usage of the term hysteria is avoided. However, new terms and new classifications are complicated and inconsistent between the two representative taxonomies, the DSM-IV and ICD-10. In the ICD-10, even the alternative term conversion disorder, which was becoming familiar to neurologists, has also disappeared as a group name. The diagnosis of hysteria remains important in clinical neurology. Extensive exclusive diagnoses and over investigation, including various imaging studies, should be avoided because they may prolong the disease course and fix their symptoms. Psychological reasons that seem to explain the conversion are not considered reliable. Positive neurological signs suggesting nonorganic etiologies are the most reliable measures for diagnosing hysteria, as Babinski first argued. Hysterical paresis has several characteristics, such as giving-way weakness or peculiar distributions of weakness. Signs to uncover nonorganic paresis utilizing synergy include Hoover's test and the Sonoo abductor test.
Kumar, Pravir; Kumar, Dhiraj; Jha, Saurabh Kumar; Jha, Niraj Kumar; Ambasta, Rashmi K
The convergent endeavors of the neuroscientist to establish a link between clinical neurology, genetics, loss of function of an important protein, and channelopathies behind neurological disorders are quite intriguing. Growing evidence reveals the impact of ion channels dysfunctioning in neurodegenerative disorders (NDDs). Many neurological/neuromuscular disorders, viz, Alzheimer's disease, Parkinson's disease, Huntington's disease, multiple sclerosis, amyotrophic lateral sclerosis, and age-related disorders are caused due to altered function or mutation in ion channels. To maintain cell homeostasis, ion channels are playing a crucial role which is a large transmembrane protein. Further, these channels are important as it determines the membrane potential and playing critically in the secretion of neurotransmitter. Behind NDDs, losses of pathological proteins and defective ion channels have been reported and are found to aggravate the disease symptoms. Moreover, ion channel dysfunctions are eliciting a range of symptoms, including memory loss, movement disabilities, neuromuscular sprains, and strokes. Since the possible mechanistic role played by aberrant ion channels, their receptor and associated factors in neurodegeneration remained elusive; therefore, it is a challenging task for the neuroscientist to implement the therapeutics for targeting NDDs. This chapter reviews the potential role of the ion channels in membrane physiology and brain homeostasis, where ion channels and their associated factors have been characterized with their functional consequences in neurological diseases. Moreover, mechanistic role of perturbed ion channels has been identified in various NDDs, and finally, ion channel modulators have been investigated for their therapeutic intervention in treating common NDDs.
Salas, Rachel Marie E.; Cruz, Tiana E.; Gamaldo, Charlene E.
Objective: To define medical student goals in the neurology clerkship and explore the association between goal setting and student performance, clerkship satisfaction, self-directed learning (SDL), and interest in neurology. Methods: A 4-year prospective study of consecutive second- to fourth-year medical students rotating through a required 4-week neurology clerkship was conducted. A goal-generating cohort (first 2 years) was enrolled to describe the breadth of student-derived goals. A goal-evaluating cohort (second 2 years) was used to evaluate the frequency of goal achievement and assess associations with performance (e.g., National Board of Medical Examiners [NBME], examination), satisfaction, and SDL behaviors (both based on 5-point Likert scale). Results: Of 440 evaluable students, 201 were goal-generating and 239 goal-evaluating. The top 3 goals were (1) improvement in neurologic examination, (2) understanding neurologic disease, and (3) deriving a differential diagnosis. More than 90% (n = 216/239) of students reported achieving goals. Achievers reported significantly higher clerkship satisfaction (4.2 ± 0.8 vs 2.8 ± 1.0, p < 0.0001), greater interest in neurology (71% vs 35%, p = 0.001), and higher observed tendency toward SDL (4.5 ± 0.5 vs 4.1 ± 0.8, p < 0.0001). After adjusting for age and training, NBME scores were 1.7 points higher in achievers (95% confidence interval 0.1–3.2, p = 0.04). Conclusion: Students consistently generated similar goals for a required neurology clerkship. Goal achievers had better adjusted standardized test scores, higher satisfaction, and greater tendency toward SDL. This student-generated, goal-setting program may be particularly appealing to clinicians, educators, and researchers seeking resource-lean mechanisms to improve student experience and performance in the clinical clerkships. PMID:26718569
Paulk, H. H.; And Others
Examines the effects of cage size on stereotyped and normal locomotion and on other abnormal behaviors in singly caged animals, whether observed abnormal behaviors tend to co-occur, and if the development of an abnormal behavior repertoire leads to reduction in the number of normal behavior categories. (Author/RK)
Cairney, Sheree; Maruff, Paul; Burns, Chris B; Currie, Jon; Currie, Bart J
Anecdotal observations suggest that neurological impairments associated with petrol (gasoline) sniffing resolve with abstinence, although these effects have not been proven empirically. Severe exposure to leaded petrol may induce a lead encephalopathy that extends beyond any acute intoxication and requires emergency hospital treatment. Previously, in chronic petrol sniffers, we showed neurological, saccadic, and cognitive abnormalities that were more severe in petrol sniffers with a history of hospitalization for lead encephalopathy, and that correlated with blood lead levels and the length of time of sniffing petrol. Ex-petrol sniffers showed a qualitatively similar but quantitatively less severe pattern of impairment. Petrol sniffing was stopped completely in one of the study communities by modifying social, occupational, and recreational opportunities. After 2 years, we obtained biochemical and neurobehavioral (neurological, saccade, and cognitive) data from all available participants of the earlier study including 10 nonsniffers and 29 chronic petrol sniffers, with six of these individuals previously receiving hospital treatment for lead encephalopathy. Here, we report that blood lead was reduced and that neurobehavioral impairments improved, and in many cases normalized completely. The most severe petrol-related neurobehavioral impairment was observed among individuals who had longer histories of abuse and higher blood lead levels, and among petrol sniffers with a history of lead encephalopathy. Those with the greatest extent of neurobehavioral impairment showed the greatest degree of improvement with abstinence, but were less likely to recover completely. This is the first direct evidence that neurological and cognitive impairment from chronic petrol sniffing ameliorates with abstinence and may recover completely.
Lukas, Rimas V; Blood, Angela; Park, Yoon Soo; Brorson, James R
In neurology education there is evidence that trainees may have greater ability in general localization and diagnosis than they do in treatment decisions, particularly with considering longer term care and supportive care. We hypothesized that medical students completing a neurology clerkship would exhibit greater skill at considering the acute diagnostic and therapeutic management than at considering supportive management measures. Data from 720 standardized patient encounters by 360 medical students completing a neurology clerkship being evaluated via an objective structured clinical examination were analyzed for skill in three components of clinical decision making: diagnostic evaluation, therapeutic intervention, and supportive intervention. Scores for all standardized patient encounters over the 2008-2012 interval revealed a significantly higher percentage of correct responses in both the diagnostic (mean [M]=62.6%, standard deviation [SD]=20.3%) and therapeutic (M=63.0%, SD=28.8%) categories in comparison to the supportive (M=31.8%, SD=45.2%) category. However, only scores in therapeutic and supportive treatment plans were found to be significant predictors of the USA National Board of Medical Examiners (NBME) clinical neurology subject examination scores; on average, a percent increase in therapeutic and support scores led to 5 and 2 point increases in NBME scores, respectively. We demonstrate empirical evidence of deficits in a specific component of clinical reasoning in medical students at the completion of a neurology clerkship.
Keutzer, Carolin S.
Describes the use of the board game, Jeopardy, in a college level abnormal psychology course. Finds increased student interaction and improved application of information. Reports generally favorable student evaluation of the technique. (CFR)
Hannachi, N; Béard, T; Ben Ismail, M
Thirty out of 287 patients (10.4%) admitted to hospital for infective endocarditis between December 1970 and January 1990 had neurological complications. Twenty-three patients had native valve infectious endocarditis and 7 had prosthetic valve endocarditis. The clinical features were characterized by the frequency of aortic valve involvement (23 out of 30) and other complications, especially cardiac failure (16 cases) and peripheral vascular manifestations (7 cases). The commonest organism was the staphylococcus (53% of identified organisms) but the number of negative blood cultures was high (50% of cases). The neurological complication was often the presenting symptom of the endocarditis (19 cases) but it occurred after bacteriological cure in 4 cases. The complications observed were cerebral ischemia (16 cases), cerebral haemorrhage (11 cases), coma (2 cases), and one peripheral neuropathy causing a Claude Bernard Horner syndrome. These complications presented with hemiplegia in 17 cases, a meningeal syndrome in 8 cases, a convulsion in 1 case, a Von Wallenberg syndrome in 1 case, and a Claude Bernard Horner syndrome in 1 case. Twelve patients had a transient or permanent neurological coma. Cerebral CT scan showed ischemic lesions in 7 cases and haemorrhagic lesions in 10 cases. Carotid angiography demonstrated mycotic aneurysms in 6 patients. Twelve patients died: the cause of death was neurological coma (7 cases), low cardiac output (4 cases) and haemorrhagic shock (1 case). Four patients underwent neurosurgery: 3 for clipping a mycotic aneurysm and 1 for drainage of an intracerebral haematoma. Poor prognostic factors were: coma, cardiac failure, cardiac valve prosthesis and, above all, the extent and multiplicity of the neurological lesions. The authors propose the following measures to improve the prognosis: early surgery in cases of large and/or mobile vegetations especially when the infecting organism is a staphylococcus and when a systemic embolism has
Bhutani, Vinod K; Johnson-Hamerman, Lois
Clinicians have hypothesized a spectrum of minor neurologic manifestations, consistent with neuroanatomical reports and collectively termed as a "syndrome of bilirubin-induced neurologic dysfunction (BIND)," which can occur in the absence of classical kernicterus. The current review builds on these initial reports with a focus on clinical signs and symptoms that are assessed by standardized tools and manifest from neonatal age to childhood. These clinical manifestations are characterized by the following domains: (i) neuromotor signs; (ii) muscle tone abnormalities; (iii) hyperexcitable neonatal reflexes; (iv) variety of neurobehavior manifestations; (v) speech and language abnormalities; and (vi) evolving array of central processing abnormalities, such as sensorineural audiology and visuomotor dysfunctions. Concerns remain that the most vulnerable infants are likely to acquire BIND, either because their exposure to bilirubin is not identified as severe enough to need treatment or is prolonged but slightly below current threshold levels for intervention. Knowing that a total serum/plasma bilirubin (TB) level is not the most precise indicator of neurotoxicity, the role of expanded biomarkers or a "bilirubin panel" has yet to be validated in prospective studies. Future studies that correlate early "toxic" bilirubin exposure to long-term academic potential of children are needed to explore new insights into bilirubin's effect on the structural and functional maturation of an infant's neural network topology.
Han, Won-Gue; Yoon, Hee-Chul; Kim, Tae-Min; Rah, Yoon Chan
Background and Objectives To analyze the clinical correlation between perverted nystagmus and brain magnetic resonance imaging (MRI) abnormal findings and to evaluate whether perverted nystagmus is clinically significant results of brain abnormal lesions or not. Subjects and Methods We performed medical charts review from January 2008 to July 2014, retrospectively. Patients who were suspected central originated vertigo at Frenzel goggles test were included among patients who visited our hospital. To investigate the correlation with nystagmus suspected central originated vertigo and brain MRI abnormal findings, we confirmed whether performing brain MRI or not. Then we exclude that patients not performed brain MRI. Results The number of patients with perverted nystagmus was 15, upbeating was 1 and down-beating was 14. Among these patients, 5 patients have brain MRI abnormal findings. However, 2 patients with MRI abnormal findings were not associated correctly with perverted nystagmus and only 3 patients with perverted nystagmus were considered central originated vertigo and further evaluation and treatment was performed by the department of neurology. Conclusions Perverted nystagmus was considered to the abnormalities at brain lesions, especially cerebellum, but neurologic symptoms and further evaluation were needed for exact diagnosis of central originated vertigo. PMID:27626081
Oscar-Berman, M; Shagrin, B; Evert, D L; Epstein, C
Chronic heavy drinking and alcoholism can have serious repercussions for the functioning of the entire nervous system, particularly the brain. These effects include changes in emotions and personality as well as impaired perception, learning, and memory. Neuropathological and imaging techniques have provided evidence of physical brain abnormalities in alcoholics, such as atrophy of nerve cells and brain shrinkage. At the cellular level, alcohol appears to directly affect brain function in a variety of ways, primarily by interfering with the action of glutamate, gamma-aminobutyric acid, and other neurotransmitters. Neurological disorders also can result from vitamin deficiency and liver disease, two health problems that commonly occur with alcoholism. Other hypotheses, based on factors such as aging, gender, and genetics, have been developed to explain various alcohol-related neurological consequences. Many pharmacological treatments to improve neuropsychological functioning in alcoholics have been tested, but none has proved entirely successful. With prolonged abstinence, however, slow recovery of cognitive functioning can occur in some cases.
Cioni, G; Biagioni, E; Bottai, P; Castellacci, A M; Paolicelli, P B
Hyperekplexia (startle disease) is an unusual, familial, neurological disorder characterized by abnormally enhanced startle response, followed in most cases by momentary generalized muscular stiffness. These attacks may cause the patients to fall rigidly, while remaining fully conscious. Startle symptomatology has generally an onset in infancy and is often accompanied, during the first years of life, by rigidity, sleep myoclonus, motor delay, regurgitation and apneic spells, which may cause sudden death. Stiff-baby syndrome is a familial disorder characterized by marked rigidity, with neonatal onset and gradual reduction during infancy, regurgitations, motor delay and attacks of stiffness. We report 4 new cases of hyperekplexia from two different families and another infant with stiff-baby syndrome discussing clinical, electrophysiological and genetic aspects of both neurological disorders in relation to other reported cases. We suggest a continuum between these familial syndromes, which are often misinterpreted as epilepsy or other disorders.
... suggesting, enlarged heart, tuberculosis, lung cancer, or any other significant abnormal findings other than... files and the most recent examination was interpreted to show enlarged heart, tuberculosis,...
... suggesting, enlarged heart, tuberculosis, lung cancer, or any other significant abnormal findings other than... files and the most recent examination was interpreted to show enlarged heart, tuberculosis,...
Smith, K C; Long, S E; Parkinson, T J
A 15 month survey of ovine reproductive tracts was undertaken in slaughterhouses in southwest England. A total of 33506 tracts were examined; 23536 from lambs and 9970 from adults. In total, 3.4% of tracts were pregnant and 3.3% exhibited abnormalities. Twenty cases of uterus unicornis, six of uterus didelphys and 11 of segmental aplasia were encountered, such that partial aplasia of the paramesonephric ducts accounted for 3.3% of all abnormalities. Although developmental abnormalities of the ovine female genital system are relatively uncommon, a substantial proportion of these can be accounted for by development defects of the paramesonephric ducts.
Tüysüz, Beyhan; Gazioğlu, Nurperi; Ungür, Savaş; Aji, Dolly Yafet; Türkmen, Seval
A 1-month-old boy with shortness of extremities on prenatal US was referred to our department with a provisional diagnosis of achondroplasia. His height was normal but he had short extremities and platyspondyly, premature carpal epiphyses on both hands, and short tubular bones with irregular metaphyses on radiographs. Re-evaluation of the patient at the age of 1 year revealed very short height and premature calcification of the costal cartilages and epiphyses. Spondylometaepiphyseal dysplasia (SMED), short limb-abnormal calcification type was diagnosed. This condition is a very rare autosomal recessively inherited disorder, and most of the patients die in early childhood due to neurological involvement. At the age of 2 years and 5 months, a CT scan showed narrowing of the cervical spinal canal. One month later he died suddenly because of spinal cord injury. In conclusion early diagnosis is very important because the recurrence risk is high and patients may die due to early neurological complications. The time of onset of abnormal calcifications, a diagnostic finding of the disease, is at the age of around 1 year in most patients. When abnormal calcifications are not yet present, but radiological changes associated with SMED are present, this rare disease must be considered.
A large number of environmental contaminants reduce circulating levels of thyroid hormone (TH), but clear markers of neurological insult associated with modest TH insufficiency are lacking. We have previously identified the presence of an abnormal cluster of misplaced neurons in ...
Bandmann, Oliver; Weiss, Karl Heinz; Kaler, Stephen G.
Summary The classic copper metabolism disorder, Wilson disease (WD), was first defined in 1912. Both early onset presentations in infancy and late onset manifestations in adults > 70 years are now well recognized. Modern biochemical and genetic prevalence studies suggest that WD may be considerably more common than previously appreciated. Early diagnosis of WD is crucial to ensure that patients can be started on adequate treatment but uncertainty remains about the best possible choice of medication. Direct genetic testing for ATP7B mutations is increasingly available to confirm the clinical diagnosis of WD. WD needs to be differentiated from other conditions that present clinically with hepatolenticular degeneration or share biochemical abnormalities with WD, such as reduced serum cerulo plasmin levels. Disordered copper metabolism is also implied in an increasing number of other neurological conditions, including a subtype of axonal neuropathy due to ATP7A mutations, and the common late-onset neurodegenerative disorders Alzheimer’s disease and Parkinson’s disease. PMID:25496901
Daly, Janis J; Wolpaw, Jonathan R
Recent advances in analysis of brain signals, training patients to control these signals, and improved computing capabilities have enabled people with severe motor disabilities to use their brain signals for communication and control of objects in their environment, thereby bypassing their impaired neuromuscular system. Non-invasive, electroencephalogram (EEG)-based brain-computer interface (BCI) technologies can be used to control a computer cursor or a limb orthosis, for word processing and accessing the internet, and for other functions such as environmental control or entertainment. By re-establishing some independence, BCI technologies can substantially improve the lives of people with devastating neurological disorders such as advanced amyotrophic lateral sclerosis. BCI technology might also restore more effective motor control to people after stroke or other traumatic brain disorders by helping to guide activity-dependent brain plasticity by use of EEG brain signals to indicate to the patient the current state of brain activity and to enable the user to subsequently lower abnormal activity. Alternatively, by use of brain signals to supplement impaired muscle control, BCIs might increase the efficacy of a rehabilitation protocol and thus improve muscle control for the patient.
Dhand, Amar; Luke, Douglas A; Lang, Catherine E; Lee, Jin-Moo
Every patient is embedded in a social network of interpersonal connections that influence health outcomes. Neurologists routinely need to engage with a patient's family and friends due to the nature of the illness and its social sequelae. Social isolation is a potent determinant of poor health and neurobiological changes, and its effects can be comparable to those of traditional risk factors. It would seem reasonable, therefore, to map and follow the personal networks of neurology patients. This approach reveals influential people, their habits, and linkage patterns that could facilitate or limit health behaviours. Personal network information can be particularly valuable to enhance risk factor management, medication adherence, and functional recovery. Here, we propose an agenda for research and clinical practice that includes mapping the networks of patients with diverse neurological disorders, evaluating the impact of the networks on patient outcomes, and testing network interventions.
Campbell, R H; Marshall, W C; Chessells, J M
We have reviewed the neurological complications not directly attributable to leukaemic infiltration in a group of 438 children with leukaemia or lymphoma. 61 children had one or more complications due chiefly to bleeding, infection, or drug toxicity. Early death from intracranial haemorrhage occurred in 1% of children with lymphoblastic leukaemia and 7% of children with myeloblastic leukaemia. Measles and chicken pox were the most serious infective complications; one child remains severely retarded after presumed measles encephalitis, one child with chicken pox died, and a second remains disabled. 2 additional cases of measles encephalitis and one of progressive multifocal leucoencephalopathy are described. Drugs which caused neurotoxicity included vincristine, cytosine arabinoside, L-asparaginase, and phenothiazines, but most problems were caused by methotrexate. Methotrexate toxicity was more prevalent and more serious in children who had had previous central nervous system leukaemia. We conclude that viral infections and methotrexate pose the greatest neurological hazards to children with leukaemia. PMID:596922
Stepansky, R; Asenbaum, S; Saletu, B; Zeitlhofer, J
Hypersomnia (excessive sleepiness) accompanies many diseases. 14% of the total Austrian population regularly have problems staying awake during the day or are prone to taking spontaneous naps. Hypersomnia is a symptom of the sleep apnea syndrome, which is a risk factor for cerebrovascular disorders. Daytime sleepiness is also a characteristic symptom of narcolepsy, idiopathic hypersomnia, episodic hypersomnia, and many more neurological or psychiatric disorders; it can also be drug induced. Involvement of brain structures which are essential for the regulation of the sleep wake cycle as a result of neurological disorders can likewise lead to hypersomnia. Symptomatic treatment is necessary when treatment of the causal factors is not possible or no improvement has been achieved.
Although many pediatric neurologic disorders, such as epilepsy and mental retardation, are the result of a combination of genetic and environmental factors, many others are the result of mutations of single genes. Most of these single gene traits are inherited in autosomal dominant, autosomal recessive, or X-linked fashion. The diversity of mutations that are responsible for these diseases produces variability in phenotypic expression. However, there are other important features of many neurologic disorders that cannot be explained by standard models of mendelian inheritance. This review focuses on recently described mechanisms, such as genomic imprinting, germline mosaicism, mitochondrial inheritance, and triplet repeat expansion. The diagnostic evaluation, prognostic significance, and recurrence risk for specific neurogenetic disorders is correlated with these underlying disease mechanisms.
Rocchi, Lorenzo; Niccolini, Flavia; Politis, Marios
Over the recent years, the application of neuroimaging techniques such as magnetic resonance imaging (MRI) and positron emission tomography (PET) has considerably advanced the understanding of complex neurological disorders. PET is a powerful molecular imaging tool, which investigates the distribution and binding of radiochemicals attached to biologically relevant molecules; as such, this technique is able to give information on biochemistry and metabolism of the brain in health and disease. MRI uses high intensity magnetic fields and radiofrequency pulses to provide structural and functional information on tissues and organs in intact or diseased individuals, including the evaluation of white matter integrity, grey matter thickness and brain perfusion. The aim of this article is to review the most recent advances in neuroimaging research in common neurological disorders such as movement disorders, dementia, epilepsy, traumatic brain injury and multiple sclerosis, and to evaluate their contribution in the diagnosis and management of patients.
Levenson, J L; Sharpe, M
The name given to functional neurologic symptoms has evolved over time in the different editions of the International Classification of Diseases (ICD) and the Diagnostic and Statistical Manual of Mental Disorders (DSM), reflecting a gradual move away from an etiologic conception rooted in hysterical conversion to an empiric phenomenologic one, emphasizing the central role of the neurologic examination and testing in demonstrating that the symptoms are incompatible with recognized neurologic disease pathophysiology, or are internally inconsistent.
Khan, Muhammad Yasir; Khan, Ishaq Nasib; Farman, Muhammad; Al Karim, Saleh; Qadri, Ishtiaq; Kamal, Muhammad Amjad; Al Ghamdi, Khalid; Harakeh, Steve
Human T-cell lymphotropic virus type 1 (HTLV-1) is a retrovirus which is endemic to certain regions of the world and infects around 10-20 million people. HTLV-1 is the etiologic agent of Adult T cell leukemia/lymphoma and HTLV-1 associated neurological disorders including mainly HTLV-1 associated myelopathy/Tropical spastic paraparesis. The involvement of the central nervous diseases occurs among: HTLV-1 infected patients from endemic areas, HIV positive individuals and drug users. The ability of HTLV-1 to cause associated neuropathies starts with the virus crossing the blood brain barrier (BBB), then entering and infecting the cells of the central nervous system. As a consequence, to the viral attack, HTLV-1 infected lymphocytes produce pro-inflammatory cytokines like tumor necrosis factor alpha, Interleukin 1 beta and interleukin 6 which further disrupts the BBB. Different serological tests have been used in the diagnosis of HTLV-1. These include: ELISA and Western Blotting (WB), Immunofluorescence, Particle Agglutination and Polymerase Chain Reaction which is used as a confirmatory test. Danazol, pentoxifylline, azathioprine and vitamin C have been used in the treatment of the HTLV-1 associated neurological disorders. Other antiviral drugs (lamivudine, zidovudine), monoclonal antibodies (Daclizumab) and therapeutic agents (valporic acid, interferons) have also been evaluated. No known drug, so far, has been shown to be efficacious. The aim of this review is to present the complexities of HTLV-1 associated neurological disorders and their current ongoing treatment. In addition to discussing future possible therapeutic strategies, by targeting HTVL-1 viral components and gene/s products, for the treatment of those neurological conditions.
Matthews, Brandy R
Opera is a complex musical form that reflects the complexity of the human condition and the human brain. This article presents an introduction to the portrayal of medical professionals in opera, including one neurologist, as well as two characters in whom neurological disease contributes to the action of the musical drama. Consideration is also given to the neuroanatomy and neuropathology of opera singers with further speculation regarding the neural underpinnings of the passion of opera's audience.
Tassy, S; Belzeaux, R; Adida, M; Micoulaud Franchi, J-A; Azorin, J-M
Mood disorders occupy a vast area in the field of psychiatry. Advances in the study of the brain, but also epidemiology and genetics allow us to make more solid connections between these disorders and neurological disorders, resuming a process of reconciliation between both specialties. The purpose of this short review is to draw the attention of the psychiatrist to these links, especially with a brief presentation of the psychiatric manifestations of a number of neurodegenerative diseases and more particularly frontotemporal dementia.
... Systematic Review for PATIENTS and their FAMILIES MEDICAL MARIJUANA IN CERTAIN NEUROLOGICAL DISORDERS This fact sheet presents the current research on medical marijuana (cannabis) for treating certain neurological disorders. The American ...
Pelligra, R. (Editor)
Neurological development is considered as the major human potential. Vision, vestibular function, intelligence, and nutrition are discussed as well as the treatment of neurological disfunctions, coma, and convulsive seizures.
Boone, Philip M; Wiszniewski, Wojciech; Lupski, James R
"Genomic medicine" refers to the diagnosis, optimized management, and treatment of disease--as well as screening, counseling, and disease gene identification--in the context of information provided by an individual patient's personal genome. Genomic medicine, to some extent synonymous with "personalized medicine," has been made possible by recent advances in genome technologies. Genomic medicine represents a new approach to health care and disease management that attempts to optimize the care of a patient based upon information gleaned from his or her personal genome sequence. In this review, we describe recent progress in genomic medicine as it relates to neurological disease. Many neurological disorders either segregate as Mendelian phenotypes or occur sporadically in association with a new mutation in a single gene. Heritability also contributes to other neurological conditions that appear to exhibit more complex genetics. In addition to discussing current knowledge in this field, we offer suggestions for maximizing the utility of genomic information in clinical practice as the field of genomic medicine unfolds.
López Díaz, Cristina
Handling a neurologically critical patient requires some necessary knowledge and aptitudes in order to avoid risks and complications which could worsen a patient's prognosis. To that end, in this article the author deals with two important points nursing personnel need to bear in mind: the distinct methods and catheters which can be used to monitor intracranial pressure, obtaining an important parameter for evaluation purposes and therapeutic follow-up on these patients, placing special emphasis on ventricular drainage and nursing care, and the operations nurses take when dealing with patients who present a risk of intracranial hypertension, setting up a protocol based on seven necessities in the Virginia Henderson model: breathing, elimination, temperature, hygiene and skin, feeding and hydration, mobility and safety. In each of these necessities, the author studies the problems these patients present, identifying them with a series of diagnoses according to NANDA (North American Nursing Diagnosis Association), and defining the care or nursing activities for each of them, which will prove essential to prevent cerebral ischemia after suffering a primary cerebral injury due to a "TCE"(Cranial Encephalic Trauma) hemorrhage, etc. Nurses' role in caring for neurologically critical patients proves to be of vital importance since these professionals must be capable of evaluating, preventing, controlling and identifying those risk situations which neurologically critical patients could present, avoiding possible complications, aiding their recuperation, and providing quality health care.
Decker, S De; Volk, H A
Although disseminated idiopathic skeletal hyperostosis (DISH) most often affects the ventral aspect of the vertebral column, this study evaluated the occurrence, nature and clinical relevance of dorsal vertebral column abnormalities in 10 dogs with DISH for which CT or MRI and a complete neurological examination were available. Dorsal vertebral column abnormalities were present in eight dogs and included articular process hypertrophy (n=7 dogs), periarticular new bone formation (n=1), pseudoarthrosis between spinous processes (n=4) and thickening of the dorsal lamina (n=4). These dorsal vertebral abnormalities caused clinically relevant vertebral canal stenosis in six dogs and were the only cause of clinical signs in four of these dogs. Although the lumbosacral joint was not affected by DISH, these six dogs demonstrated lumbosacral vertebral canal stenosis and clinical signs of cauda equina compression, which included paraparesis (n=5 dogs), lumbosacral pain (n=4), urinary incontinence (n=4), faecal incontinence (n=1) and urinary and faecal incontinence (n=1). There is a possible association between DISH and hypertrophy of dorsal vertebral structures, potentially resulting in vertebral canal stenosis. Although these changes occurred at segments fused by DISH, they predominantly affected adjacent non-affected segments.
Plumb, Jonnie; McQuaid, Stephen; Mirakhur, Meenakshi; Kirk, John
Blood-brain barrier (BBB) breakdown, demonstrable in vivo by enhanced MRI is characteristic of new and expanding inflammatory lesions in relapsing-remitting and chronic progressive multiple sclerosis (MS). Subtle leakage may also occur in primary progressive MS. However, the anatomical route(s) of BBB leakage have not been demonstrated. We investigated the possible involvement of interendothelial tight junctions (TJ) by examining the expression of TJ proteins (occludin and ZO-1 ) in blood vessels in active MS lesions from 8 cases of MS and in normal-appearing white (NAWM) matter from 6 cases. Blood vessels (10-50 per frozen section) were scanned using confocal laser scanning microscopy to acquire datasets for analysis. TJ abnormalities manifested as beading, interruption, absence or diffuse cytoplasmic localization of fluorescence, or separation of junctions (putative opening) were frequent (affecting 40% of vessels) in oil-red-O-positive active plaques but less frequent in NAWM (15%), and in normal (< 2%) and neurological controls (6%). Putatively "open" junctions were seen in vessels in active lesions and in microscopically inflamed vessels in NAWM. Dual fluorescence revealed abnormal TJs in vessels with pre-mortem serum protein leakage. Abnormal or open TJs, associated with inflammation may contribute to BBB leakage in enhancing MRI lesions and may also be involved in subtle leakage in non-enhancing focal and diffuse lesions in NAWM. BBB disruption due to tight junctional pathology should be regarded as a significant form of tissue injury in MS, alongside demyelination and axonopathy.
Summary This short history of the Italian Society of Neurology focuses on its founders and leading personalities. The article also considers the present and the future of Italian neurology, emphasising in particular the scientific impact of Italian neurological research on the main international journals and the activities undertaken to increase the role of neurologists. PMID:21729588
ISOM, JOHN B.
ASPECTS OF NEUROLOGICAL RESEARCH ARE PRESENTED UNDER THE TOPICS OF NEUROLOGICAL GROWTH AND DEVELOPMENT, CEREBRAL DOMINANCE, "SPLIT-BRAIN" SYNDROME, AND SEQUENCING. THE FIRST TWO AREAS INDICATE THAT ASSESSMENT OF A CHILD'S NEUROLOGICAL DEVELOPMENT MUST TAKE INTO ACCOUNT VARIATION OF RATE AND DEGREE OF DEVELOPMENT, AND THAT THE SIGNIFICANCE OF…
Haley, Stephen M.; And Others
This paper reviews the role and practice of functional-status assessment in young children with neurological impairments, examines issues in selection of functional assessment measures, and describes functional assessment approaches developed in the fields of special education and pediatric rehabilitation, including adaptive scales,…
Ballard, Shirley; Bolan, Morna; Burton, Michael; Snyder, Sherry; Pasterczyk-Seabolt, Claire; Martin, Don
Reviews research on attention deficit hyperactivity disorder (ADHD) and examines the role of neurochemical stimulation and signs of neurological deficits. Describes the chemical action of drugs used to treat ADHD, along with cognitive, affective, and behavioral effects, and side effects. Elaborates on drug treatment and basic behavior modification…
York, George K; Steinberg, David A
Neurology, in the modern sense, did not exist in ancient Egypt, where medicine was a compound of natural, magical and religious elements, with different practitioners for each form of healing. Nevertheless, Egyptian doctors made careful observations of illness and injury, some of which involved the nervous system. Modern scholars have three sources of information about Egyptian medicine: papyri, inscriptions, and mummified remains. These tell us that the Egyptians had words for the skull, brain, vertebrae, spinal fluid and meninges, though they do not say if they assigned any function to them. They described unconsciousness, quadriparesis, hemiparesis and dementia. We can recognize neurological injuries, such as traumatic hemiparesis and cervical dislocation with paraplegia, in the well known Edwin Smith surgical papyrus. Similarly recognizable in the Ebers papyrus is a description of migraine. An inscription from the tomb of the vizier Weshptah, dated c. 2455 BCE, seems to describe stroke, and Herodotus describes epilepsy in Hellenistic Egypt. We have very little understanding of how Egyptian physicians organized these observations, but we may learn something of Egyptian culture by examining them. At the same time, modern physicians feel some connection to Egyptian physicians and can plausibly claim to be filling a similar societal role.
Islam, M T; Hussain, M Z; Bhuiyan, M R; Roy, G R; Barua, C; Kabir, A
Congenital heart defect (CHD) is the most common birth defect & a significant cause of childhood morbidity & mortality. Structural brain abnormalities are more common in children with CHD than general population. This study details the cognitive, motor and behavioral development of a child with congenital heart disease who is on medical management. In this retrospective descriptive study, abnormalities in neurobehavioral status of infant & children (6-42 months of age) with CHD, who are on medical management were assessed by a standardized neurobehavioral assessment test, BSID-II. Fifty-eight children were included, who were diagnosed as a case of congenital heart disease & confirmed by Colour Doppler echocardiography in the Paediatric Cardiology Department of Bangabandhu Sheikh Mujib Medical University, Bangladesh. Mean age of the children was 23±13 months (range, 6 to 42 months); M:F = 1:1.9. Among them 22(37.9%) had cyanotic and 36(62.1%) had acyanotic congenital heart disease. Neurobehavioral and neurologic abnormalities were documented in a significant number of children. BSID-II showed 23(39.7%) had delayed metal development, 24(41.4%) had motor impairment and 16(27.6%) had non-optimal behavioral performance. Interestingly, infant and young children with acyanotic congenital heart defects were more likely to demonstrate severe neurologic compromise than were those with cyanotic defects. Findings of this study suggest that the prevalence of neurobehavioral abnormalities in infants and young children with congenital heart defects has been under predicted & indicates that delay in closure (surgery/device) puts the patient at an increased risk of neuro-developmental insult.
Krenz, W.; Robin, M.; Barez, S.; Stark, L.
Anatomical, experimental, and computer simulation studies were used to determine the structure of the neurophysiological model of the pupil size control system. The computer simulation of this model demonstrates the role played by each of the elements in the neurological pathways influencing the size of the pupil. Simulations of the effect of drugs and common abnormalities in the system help to illustrate the workings of the pathways and processes involved. The simulation program allows the user to select pupil condition (normal or an abnormality), specific site along the neurological pathway (retina, hypothalamus, etc.) drug class input (barbiturate, narcotic, etc.), stimulus/response mode, display mode, stimulus type and input waveform, stimulus or background intensity and frequency, the input and output conditions, and the response at the neuroanatomical site. The model can be used as a teaching aid or as a tool for testing hypotheses regarding the system.
Khan, Richard Lester; Nunes, Magda Lahorgue; Garcias da Silva, Luis Fernando; da Costa, Jaderson Costa
The aim of this study was to evaluate the relationship of sequential neonatal electroencephalography (EEG) and neurological outcome in neonates with seizures to identify polysomnographic features predictive of outcome. Sequential EEGs recordings of 58 neonates that belonged to 2 historical cohorts of newborns with seizures from the same neonatal intensive care unit and who had follow-up at the Neurodevelopment Clinic of the Hospital São Lucas, Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS) in Porto Alegre, Brazil, were analyzed and classified into 4 groups: normal-normal, abnormal-normal, abnormal-abnormal, normal-abnormal. In patients with more than 2 recordings, during the neonatal period, the first EEG was compared with the following more abnormal. A total of 58 pairs of 2 sequential EEGs were analyzed. Considering the first EEG, a statistically significant difference was observed between the relationship of the result of this exam, if it was abnormal, with developmental delay (P = .030) and postnatal death (P = .030). Abnormal background activity was also related to neurodevelopment delay (P = .041). EEG sequences abnormal-abnormal and normal-abnormal significantly correlated to the outcome epilepsy ( P = .015). Abnormal sequential background activity was associated with neurodevelopment delay (P = .006) and epilepsy (P = .041). The burst suppression pattern when present in any EEG correlated with epilepsy (P = .013) and postnatal death (P = .034). Sequential abnormal background patterns in the first and second EEG increased the risk for epilepsy (relative risk [RR] = 1.8; 95% confidence interval [CI] = 1.03-3.0) and neurodevelopment delay (RR = 2.20; 95% CI = 1.3-3.0). Abnormal background activity only in the second electroencephalogram increased the risk for neurodevelopment delay (RR = 2.20; 95% CI = 1.3-3.0). All the neonates (n = 33) with seizures related to probable hypoxic ischemic encephalopathy had abnormalities in the first EEG (P
A large number of environmental contaminants reduce circulating levels of thyroid hormone (TH), but clear markers of neurological insult associated with modest TH insufficiency are lacking. We have previously identified the presence of an abnormal cluster of misplaced neurons in the corpus callosum (CC), a heterotopia, in adult rats following hypothyroidism induced by the hormone synthesis inhibitor, propylthiouracil (PTU). In this report we have investigated the dose- response relationships to administered dose of PTU, the magnitude of reductions in circulating TH, and the incidence and volume of the heterotopia in adult offspring of PTU-treated dams. Pregnant rat dams were administered 0, 1, 2, 3 or 10 ppm of PTU in the drinking water from gestational day 6 until pups were weaned on postnatal day 21 (PN2 1). Serum hormones in the dams were reduced in a dose-dependent manner, but at the lower dose levels (1, 2 and 3ppm) reductions were limited to T4 with no change in serum T3. At higher PTU concentrations, serum T3 was reduced in dams (1 Oppm) and pups on PN14 and 21 (3 and 10 ppm). All hormone levels returned to control levels in adulthood. On PN 130, female offspring were perfused with paraformaldehyde and sections prepared for immunohistochemistry for the neuron-specific antibody NeuN. All sections (40-45 50u through the hippocampus) were examined for the presence of a heterotopia in the CC. A dose-dependent increase in incidence and volume of heterotopic re
In the late 19th century and in the beginning of the 20th century, mental diseases and abnormal behavior was considered to be a great danger to culture and society. "Degeneration" was the buzzword of the time, used and misused by artists and scientists alike. At the same time, some scientists saw abnormity as the key to unlock the mysteries of the ordinary mind. Naturalistic curiosity left Pandoras box open when religion declined in Darwins wake. Two swedish scientists, the physician Bror Gadelius (1862-1938) and his friend the philosopher Axel Herrlin (1870-1937), inspired by the French psychologist Theodule Ribots (1839-1916) "psychology without a soul", denied all fixed demarcation lines between abnormity and normality. All humans are natures creatures ruled by physiological laws, not ruled by God or convention. Even ordinary morality was considered to be an utterly backward explanation and guideline for complex human behavior. Different forms of therapy, not various kinds of penalties for wicked and disturbing behavior, are the now the solution for lots of people, "normal" as well as "abnormal". Psychiatry is expanding.
Berkovitz, G D; Seeherunvong, T
Gonadal differentiation involves a complex interplay of developmental pathways. The sex determining region Y (SRY) gene plays a key role in testis determination, but its interaction with other genes is less well understood. Abnormalities of gonadal differentiation result in a range of clinical problems. 46,XY complete gonadal dysgenesis is defined by an absence of testis determination. Subjects have female external genitalia and come to clinical attention because of delayed puberty. Individuals with 46,XY partial gonadal dysgenesis usually present in the newborn period for the valuation of ambiguous genitalia. Gonadal histology always shows an abnormality of seminiferous tubule formation. A diagnosis of 46,XY true hermaphroditism is made if the gonads contain well-formed testicular and ovarian elements. Despite the pivotal role of the SRY gene in testis development, mutations of SRY are unusual in subjects with a 46,XY karyotype and abnormal gonadal development. 46,XX maleness is defined by testis determination in an individual with a 46,XX karyotype. Most affected individuals have a phenotype similar to that of Klinefelter syndrome. In contrast, subjects with 46,XX true hermaphroditism usually present with ambiguous genitalia. The majority of subjects with 46,XX maleness have Y sequences including SRY in genomic DNA. However, only rare subjects with 46,XX true hermaphroditism have translocated sequences encoding SRY. Mosaicism and chimaerism involving the Y chromosome can also be associated with abnormal gonadal development. However, the vast majority of subjects with 45,X/46,XY mosaicism have normal testes and normal male external genitalia.
Background Schwannomas are the most common primary solitary tumor among peripheral nerve sheath tumors. The occurrence of transient or permanent neurological deficits after schwannoma resection is more common than previously recognized. Here, the neurological deficits before and after surgical resection of schwannomas in the upper extremities were examined. Methods The study included 43 upper-extremity schwannomas that were treated surgically between January 2000 and July 2013. The neurological status of each patient (such as pain, sensory disturbances, and motor disturbances) was evaluated preoperatively, immediately postoperatively, and at the final postoperative follow-up. Results Out of the 43 cases, 34 cases exhibited neurological symptoms before the operation, and in 31 of the 34 cases, neurological symptoms were either reduced or disappeared after the surgery. In 20 of the 43 cases, new neurological deficits that had not been observed preoperatively were noted immediately postoperatively; the newly acquired neurological deficits disappeared over time in 5 of the 20 cases. Significantly, more newly acquired neurological deficits remained in cases where the tumor was located in the upper arm and elbow than in cases where the tumor was located in the distal forearm. Conclusion New neurological deficits occurred after surgery in about half of the cases. This ratio was higher than expected, suggesting that schwannoma resection is not always a complication-free operation. Therefore, patients should be informed preoperatively about the possibility of neurological deficits. Furthermore, extreme care should be taken not to damage the affected and uninvolved nerves during surgery.
Sass, Pamela; Hassan, Ghinwa
Rotational and angular problems are two types of lower extremity abnormalities common in children. Rotational problems include intoeing and out-toeing. Intoeing is caused by one of three types of deformity: metatarsus adductus, internal tibial torsion, and increased femoral anteversion. Out-toeing is less common than intoeing, and its causes are similar but opposite to those of intoeing. These include femoral retroversion and external tibial torsion. Angular problems include bowlegs and knock-knees. An accurate diagnosis can be made with careful history and physical examination, which includes torsional profile (a four-component composite of measurements of the lower extremities). Charts of normal values and values with two standard deviations for each component of the torsional profile are available. In most cases, the abnormality improves with time. A careful physical examination, explanation of the natural history, and serial measurements are usually reassuring to the parents. Treatment is usually conservative. Special shoes, cast, or braces are rarely beneficial and have no proven efficacy. Surgery is reserved for older children with deformity from three to four standard deviations from the normal.
Pinto, José Antonio; Corso, Renato José; Guilherme, Ana Cláudia Rocha; Pinho, Sílvia Rebelo; Nóbrega, Monica de Oliveira
Dysprosody also known as pseudo-foreign dialect, is the rarest neurological speech disorder. It is characterized by alterations in intensity, in the timing of utterance segments, and in rhythm, cadency, and intonation of words. The terms refers to changes as to duration, fundamental frequency, and intensity of tonic and atonic syllables of the sentences spoken, which deprive an individual's particular speech of its characteristics. The cause of this disease is usually associated with neurological pathologies such as brain vascular accidents, cranioencephalic traumatisms, and brain tumors. The authors report a case of dysprosody attended to at the Núcleo de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço de São Paulo (NOSP). It is about a female patient with bilateral III degree Reinke's edema and normal neurological examinations that started presenting characteristics of the German dialect following a larynx microsurgery.
Pittman, Alan; Hardy, John
In recent years, neurogenetics research had made some remarkable advances owing to the advent of genotyping arrays and next-generation sequencing. These improvements to the technology have allowed us to determine the whole-genome structure and its variation and to examine its effect on phenotype in an unprecedented manner. The identification of rare disease-causing mutations has led to the identification of new biochemical pathways and has facilitated a greater understanding of the etiology of many neurological diseases. Furthermore, genome-wide association studies have provided information on how common genetic variability impacts on the risk for the development of various complex neurological diseases. Herein, we review how these technological advances have changed the approaches being used to study the genetic basis of neurological disease and how the research findings will be translated into clinical utility.
Martins, Isabel; Lauterbach, Martin; Slade, Peter; Luis, Henriques; DeRouen, Timothy; Martin, Michael; Caldas, Alexandre; Leitao, Jorge; Rosenbaum, Gail; Townes, Brenda
Neurological examination of children includes the screening for soft neurological signs (NSS). There is little knowledge about their evolution during adolescence, except that their lasting presence has been associated with developmental, psychological, and cognitive disorders. We report the results of a NSS exam (assessing gross and fine motor…
Moulin, Thierry; Clarac, François; Petit, Henri; Broussolle, Emmanuel
The Middle Ages saw the development of numerous universities in the different provinces that later became the kingdom of France. In 1794, Napoleon I established 3 medical schools in Paris, Montpellier and Strasbourg, which were transformed into medical faculties in 1808. France had always been a highly centralized country, but during the 19th century, this trend started to change with the creation of medical faculties in Nancy (1872), Lille (1877), Lyon (1878), Bordeaux (1879), Toulouse (1891), Algiers (1910) and Marseille (1930). Following the creation of the 12 foundation courses, specialized chairs were progressively established in Paris, but for a long time this remained restricted to the French capital. However, with the emergence of medicine as an academic discipline in several towns outside Paris, came the development of neurology. This was greatly influenced by former students of Jean-Martin Charcot, local personalities, and the interactions between the two. Leading figures included Albert Pitres in Bordeaux, Léon Ingelrans in Lille, Eugène Devic and Jules Froment in Lyon, Lucien Cornil in Marseille, Joseph Grasset in Montpellier, and Marcel Riser in Toulouse. The interaction between French and Germanic medical communities also developed at this turbulent time under the influence of several great physicians such as Wilhelm Waldeyer, Adolf Kussmaul, and later Jean Alexandre Barré in Strasbourg, and Hippolyte Bernheim in Nancy. There are a number of other university towns outside Paris in which the development of neurology was probably influenced by the same interactions with psychiatry. It would be worth carrying out a thorough analysis of these towns in order to present an exhaustive overview of the development of neurology in France.
Li, Yifan; Zhang, Chao; Yin, Yanhong; Cui, Fang; Cai, Jinyang; Chen, Zhaohui; Jin, Yanhong; Robson, Mark G; Li, Mao; Ren, Yuting; Huang, Xusheng; Hu, Ruifa
The intensive use of pesticides has attracted great attention from the Chinese government. However, current regulations have had limited influence on their safe use. Although the acute neurologic effects of pesticides have been well documented, little is known about their cumulative effects. Knowledge of the impact of pesticides on health may convince farmers to minimize their use. We conducted a cross-sectional study in three provinces of China to evaluate the relationship between pesticide exposure and neurological dysfunction. Crop farmers were divided into two groups depending on their level of pesticide exposure. A total of 236 participants were assessed by questionnaire and neurological examination for symptoms and signs of neuropathy. Characteristics of neurologic dysfunction following cumulative low-level exposure were assessed with logistic regression analysis. Farmers exposed to high-level pesticide use had greater risk of developing sensations of numbness or prickling (odds ratio (OR) 2.62, 95% confidence interval (CI): 1.08-6.36). After adjusting for recent exposure, the risk of numbness or prickling symptoms (OR 2.55, 95% CI: 1.04-6.25) remained statistically significant. Loss of muscle strength and decreased deep tendon reflexes had OR > 2, however, this did not reach statistical significance. These findings suggest that overuse of pesticides increased risk of neurologic dysfunction among farmers, with somatosensory small fibers most likely affected. Measures that are more efficient should be taken to curb excessive use of pesticides.
Gleichgerrcht, Ezequiel; Fridriksson, Julius
The ability to name objects or abstract entities is an essential feature of speech and language, being commonly considered a central component of normal neurologic function. For this reason, the bedside testing of naming performance is part of the neurologic examination, especially since naming impairments can signify the early onset of a progressive disease or the occurrence of a more established problem. Modern neuroscience research suggests that naming relies on specific and distributed networks that operate in concert to support various processing stages, spanning from object recognition to spoken words. Likewise, studies evaluating the types of naming impairments in patients with neurologic conditions have contributed to the understanding of acquired forms of naming impairments and the underlying stages during normal language processing. In this article, we review the neurobiological mechanisms supporting naming, with a focus on the clinical application of these concepts. We provide an overview of the stages of cognitive processing that are hypothesized to support naming. For each stage, we explore the evidence revealing its neural basis, drawing parallels to clinical syndromes that commonly disrupt each stage. We review the patterns of naming impairment across various neurologic conditions, including classic language disorders, such as poststroke aphasia or primary progressive aphasia, as well as other diseases where language impairments may be subtle but helpful for the appropriate diagnosis. In this context, we provide a structured and practical guide for the bedside naming assessments rooted in modern neuroscience, aimed at supporting the evaluation and diagnosis of neurologic conditions that affect language. PMID:26115732
Infection is the commonest cause of serious neurologic sequelae of neuraxial anesthesia. The incidence depends on operator skill and patient population. Meningitis, a complication of dural puncture, is usually caused by viridans streptococci. The risk factors are dural puncture during labor, no mask and poor aseptic technique, vaginal infection and bacteremia. Epidural abscess is a complication of epidural catheterization, route of entry the catheter track and the organism usually the staphylococcus. Principal risk factors are prolonged catheterization, poor aseptic technique and traumatic insertion. Prevention includes wearing a mask, using a full sterile technique, avoiding prolonged catheterization and prescribing antibiotics in a high-risk situation.
Brophy, Gretchen M; Human, Theresa; Shutter, Lori
The appropriate use of medications during Emergency Neurological Life Support (ENLS) is essential to optimize patient care. Important considerations when choosing the appropriate agent include the patient's organ function and medication allergies, potential adverse drug effects, drug interactions, and critical illness and aging pathophysiologic changes. Critical medications used during ENLS include hyperosmolar therapy, anticonvulsants, antithrombotics, anticoagulant reversal and hemostatic agents, anti-shivering agents, neuromuscular blockers, antihypertensive agents, sedatives, vasopressors and inotropes, and antimicrobials. This article focuses on the important pharmacokinetic and pharmacodynamics characteristics, advantages and disadvantages, and clinical pearls of these therapies, providing practitioners with essential drug information to optimize pharmacotherapy in acutely ill neurocritical care patients.
Glaser, Carol A.
The list of emerging and reemerging pathogens that cause neurologic disease is expanding. Various factors, including population growth and a rise in international travel, have contributed to the spread of pathogens to previously nonendemic regions. Recent advances in diagnostic methods have led to the identification of novel pathogens responsible for infections of the central nervous system. Furthermore, new issues have arisen surrounding established infections, particularly in an increasingly immunocompromised population due to advances in the treatment of rheumatologic disease and in transplant medicine. PMID:25360203
Williams, I R
The White Paper, "Working for Patients", led to a change in the way in which hospitals were funded from April 1991. The changes will have profound effects on the future shape of health care in the United Kingdom. Neurologists will need to understand the new National Health Service if their patients are to benefit from the changes. If neurology is to survive as a specialty separate from general medicine it will have to show that it can provide quality care which is accessible, relevant, efficient and effective, at a price which Districts can afford.
Wigfield, Christopher H; Love, Robert B
Lung transplantation is the only established therapeutic option for several end-stage respiratory diseases. Limited mostly by lack of suitable allografts, the results have measurably improved over the last decade. Numerous surgical and pharmaceutical improvements have had positive impact on outcomes. The potential for critical care issues and the need for interdisciplinary management remains paramount. Cardiac, renal, and metabolic complications are frequently encountered in the acute postoperative phase. Allograft rejection and infectious diseases as well as problems related to immunosuppressive regimen are seen later after lung transplantation. Neurologic manifestations with a range of etiologies are discussed here in this context.
Morris, E. Brannon; Li, Chenghong; Khan, Raja B.; Sanford, Robert A; Boop, Frederick; Pinlac, Renee; Xiong, Xiaoping; Merchant, Thomas E.
Background Infratentorial ependymoma is a common central nervous system tumor of childhood and in patients > 1 year of age is treated with maximally feasible surgical resection and radiotherapy. Because of this tumor typically arises within the 4th ventricle and can invade the brainstem, patients are at risk for significant neurological impairment. Purpose To characterize the incidence, evolution, and persistence of neurologic impairment in children with infratentorial ependymoma following maximal safe surgery and conformal or intensity-modulated radiation therapy (CRT/IMRT). Patients and Methods After surgical resection, 96 children with non-metastatic infratentorial ependymoma were enrolled on a phase II study of image-guided radiation therapy and were prospectively followed with interval comprehensive neurological examinations. Late adverse neurological severity was graded according to the National Cancer Institute Common Terminology Criteria for Adverse Events (CTCAE), version 3.0. Results The most common deficits detected at baseline examination were limb dysmetria, cranial nerve VI/VII palsy, limb paresis, dysphagia, and truncal ataxia/hypotonia. When present, gait dysfunction and dysphagia were often severe. Oculomotor dysfunction, facial paresis, dysphagia, and gait impairment improved over time. With the exception of hearing loss, in the survivor cohort, very few severe late effects (CTCAE Grade 3/4/5) were present at 60 month survival. Conclusion In general, neurological deficits were maximal in the post-operative period and either remained stable or improved during radiation and the post-treatment evaluation period. With the exception of hearing, the majority of chronic residual neurological deficits in this at-risk population are mild and only minimally intrude upon daily life. PMID:19330288
Islam, Md Asiful; Alam, Fahmida; Kamal, Mohammad Amjad; Wong, Kah Keng; Sasongko, Teguh Haryo; Gan, Siew Hua
Neurological manifestations or disorders associated with the central nervous system are among the most common and important clinical characteristics of antiphospholipid syndrome (APS). Although in the most recently updated (2006) APS classification criteria, the neurological manifestations encompass only transient ischemic attack and stroke, diverse 'non-criteria' neurological disorders or manifestations (i.e., headache, migraine, bipolar disorder, transverse myelitis, dementia, chorea, epileptic seizures, multiple sclerosis, psychosis, cognitive impairment, Tourette's syndrome, parkinsonism, dystonia, transient global amnesia, obsessive compulsive disorder and leukoencephalopathy) have been observed in APS patients. To date, the underlying mechanisms responsible for these abnormal neurological manifestations in APS remain unclear. In vivo experiments and human observational studies indicate the involvement of thrombotic events and/or high titers of antiphospholipid antibodies in the neuro-pathogenic cascade of APS. Although different types of neurologic manifestations in APS patients have successfully been treated with therapies involving anti-thrombotic regimens (i.e., anticoagulants and/or platelet antiaggregants), antineuralgic drugs (i.e., antidepressants, antipsychotics and antiepileptics) and immunosuppressive drugs alone or in combination, evidence-based guidelines for the management of the neurologic manifestations of APS remain unavailable. Therefore, further experimental, clinical and retrospective studies with larger patient cohorts are warranted to elucidate the pathogenic linkage between APS and the central nervous system in addition to randomized controlled trials to facilitate the discovery of appropriate medications for the 'non-criteria' neurologic manifestations of APS.
Fode, Mikkel; Krogh-Jespersen, Sheila; Brackett, Nancy L; Ohl, Dana A; Lynne, Charles M; Sønksen, Jens
Normal sexual and reproductive functions depend largely on neurological mechanisms. Neurological defects in men can cause infertility through erectile dysfunction, ejaculatory dysfunction and semen abnormalities. Among the major conditions contributing to these symptoms are pelvic and retroperitoneal surgery, diabetes, congenital spinal abnormalities, multiple sclerosis and spinal cord injury. Erectile dysfunction can be managed by an increasingly invasive range of treatments including medications, injection therapy and the surgical insertion of a penile implant. Retrograde ejaculation is managed by medications to reverse the condition in mild cases and in bladder harvest of semen after ejaculation in more severe cases. Anejaculation might also be managed by medication in mild cases while assisted ejaculatory techniques including penile vibratory stimulation and electroejaculation are used in more severe cases. If these measures fail, surgical sperm retrieval can be attempted. Ejaculation with penile vibratory stimulation can be done by some spinal cord injured men and their partners at home, followed by in-home insemination if circumstances and sperm quality are adequate. The other options always require assisted reproductive techniques including intrauterine insemination or in vitro fertilization with or without intracytoplasmic sperm injection. The method of choice depends largely on the number of motile sperm in the ejaculate. PMID:22138899
van Dijk, J Gert; Wieling, Wouter
The definition of syncope has clinical and pathophysiological parts. The clinical part is that syncope is a form of transient loss of consciousness (TLOC), while the pathophysiological element is that syncope differs from other forms of TLOC by virtue of the basis of true syncope - specifically cerebral hypoperfusion. As such, the signs and symptoms of syncope rely on three steps, starting with the cause of syncope and including the response of the systemic circulation and neurological effects. The causes of syncope all result in low blood pressure through low peripheral resistance and/or low cardiac output. The next step is the cerebral circulation, which is a large-volume and low-resistance system, characterized by relatively high diastolic flow. The cerebral circulation is usually protected against swings in arterial pressure by cerebral autoregulation, but in abrupt syncope, autoregulation acts too slowly to have much effect. In syncope, diastolic flow velocity is more impaired than systolic flow velocity, probably because closing vascular forces then opposes flow. The third step concerns neurological signs and symptoms; the cerebral cortex first responds by disruption of normal activity, followed by a complete cessation of activity when hypoperfusion deepens. The latter is likely when there is asystole or marked bradycardia. The neurological signs and symptoms suggest different principles: a loss of normal cortical activity, abnormal cortical activity and activity due to disinhibition of brainstem activity.
Hicks, Ramona R.; Fertig, Stephanie J.; Desrocher, Rebecca E.; Koroshetz, Walter J.; Pancrazio, Joseph J.
Over the last few years, thousands of soldiers and an even greater number of civilians have suffered traumatic injuries due to blast exposure, largely attributed to improvised explosive devices in terrorist and insurgent activities. The use of body armor is allowing soldiers to survive blasts that would otherwise be fatal due to systemic damage. Emerging evidence suggests that exposure to a blast can produce neurological consequences in the brain, but much remains unknown. To elucidate the current scientific basis for understanding blast-induced traumatic brain injury (bTBI), the NIH convened a workshop in April, 2008. A multidisciplinary group of neuroscientists, engineers, and clinicians were invited to share insights on bTBI, specifically pertaining to: physics of blast explosions, acute clinical observations and treatments, preclinical and computational models, and lessons from the international community on civilian exposures. This report provides an overview of the state of scientific knowledge of bTBI, drawing from the published literature, as well as presentations, discussions, and recommendations from the workshop. One of the major recommendations from the workshop was the need to characterize the effects of blast exposure on clinical neuropathology. Clearer understanding of the human neuropathology would enable validation of preclinical and computational models, which are attempting to simulate blast wave interactions with the central nervous system. Furthermore, the civilian experience with bTBI suggests that polytrauma models incorporating both brain and lung injuries may be more relevant to the study of civilian countermeasures than considering models with a neurological focus alone. PMID:20453776
Jay, Cheryl A; Solbrig, Marylou V
Even at a time when HIV/AIDS and immunosuppressive therapy have increased the number of individuals living with significant immunocompromise, diabetes mellitus (DM) remains a major comorbid disorder for several rare but potentially lethal infections, including rhino-orbital-cerebral mucormycosis and malignant external otitis. DM is also a commonly associated condition in patients with nontropical pyomyositis, pyogenic spinal infections, Listeria meningitis, and blastomycosis. As West Nile virus spread to and across North America over a decade ago, DM appeared in many series as a risk factor for death or neuroinvasive disease. More recently, in several large international population-based studies, DM was identified as a risk factor for herpes zoster. The relationships among infection, DM, and the nervous system are multidirectional. Viral infections have been implicated in the pathogenesis of type 1 and type 2 DM, while parasitic infections have been hypothesized to protect against autoimmune disorders, including type 1 DM. DM-related neurologic disease can predispose to systemic infection - polyneuropathy is the predominant risk factor for diabetic foot infection. Because prognosis for many neurologic infections depends on timely institution of antimicrobial and sometimes surgical therapy, neurologists caring for diabetic patients should be familiar with the clinical features of the neuroinfectious syndromes associated with DM.
Damage to the frontal structures may lead to a diverse set of changes in cognitive, behavioral, or emotional domains. While lesion studies have demonstrated distinct impairments related to pathology in different frontal regions, it is clear that the frontal lobe syndrome is not restricted to damage to frontal regions. Therefore, the broad range of impairments in executive functioning evident in neurologic disease is often referred to as the dysexecutive syndrome. This review provides an overview of how executive functioning has been traditionally defined and measured. The components of executive function such as planning, cognitive flexibility and set-shifting, initiation and self-generation, response inhibition, serial ordering and sequencing, are discussed with respect to traditional measures and neural substrates. This is followed by profiles of frontal-executive dysfunction in aging, traumatic brain injury, frontotemporal dementia, and Parkinson's disease. Since no one specific neurologic disorder has a predilection to damage isolated to the frontal lobes, profiles of the dysexecutive syndrome are related to damage to several regions in addition to the frontal lobes. Finally, there is a discussion of ecological validity and the impact of executive deficits on everyday functioning. The recent development of executive tests with greater ecological validity is reviewed and discussed, and suggestions for future directions for research are provided.
Reynolds, Edward H; Wilson, James V Kinnier
We here review Babylonian descriptions of neurological and psychiatric disorders, including epilepsy, stroke, psychoses, obsessive compulsive disorder, phobias, psychopathic behaviour, depression and anxiety. Most of these accounts date from the first Babylonian dynasty of the first half of the second millennium BC, within a millennium and a half of the origin of writing. The Babylonians were remarkably acute and objective observers of medical disorders and human behaviour. Their detailed descriptions are surprisingly similar to modern 19th and 20th century AD textbook accounts, with the exception of subjective thoughts and feelings which are more modern fields of enquiry. They had no knowledge of brain or psychological function. Some neuropsychiatric disorders, e.g. stroke or facial palsy, had a physical basis requiring the attention of a physician or asû, using a plant and mineral based pharmacology; some disorders such as epilepsy, psychoses, depression and anxiety were regarded as supernatural due to evil demons or spirits, or the anger of personal gods, and thus required the intervention of the priest or ašipu; other disorders such as obsessive compulsive disorder and psychopathic behaviour were regarded as a mystery. The Babylonians were the first to describe the clinical foundations of neurology and psychiatry. We discuss these accounts in relation to subsequent and more modern clinical descriptions.
Asakura, Kunihiko; Muto, Tatsuro
Abstract Wegener's granulomatosis is a rare autoimmune disease associated with granulomatous inflammation and anti-neutrophil cytoplasmic antibody (ANCA)-associated small vessel vasculitis. Following the discovery of ANCA, ANCA-associated vasculitis is established as a disease entity of Wegener's granulomatosis, microscopic polyangiitis, and Churg-Strauss syndrome. Clinical and experimental studies have provided evidences that myeloperoxidase (MPO) and proteinase 3 (PR3), which are major antigenic targets for ANCA in neutrophils, are not only disease markers but also involved in the pathogenesis. In addition, recent studies have revealed another potential antigen for ANCA, lysosomal-associated membrane protein-2 (LAMP-2). Though nervous system manifestations of Wegener's granulomatosis are less frequent than classical manifestations in the lungs and kidneys, 20-50% of patients demonstrate neurological involvements. Peripheral nervous system involvement (in generalized Wegener's granulomatosis) is more frequent than central nervous system (CNS) involvement. Multiple mononeuropathy and multiple cranial neuropathy are the most prevalent symptoms. CNS manifestations include cerebrovascular events, pachymeningitis, seizures, and reversible posterior leukoencephalopathy syndrome. Here we discuss the pathogenic mechanism of ANCA and review the literature regarding neurological involvement in Wegener's granulomatosis.
Whitlock, B K; Kaiser, L; Maxwell, H S
The etiologies for congenital bovine fetal anomalies can be divided into heritable, toxic, nutritional, and infectious categories. Although uncommon in most herds, inherited congenital anomalies are probably present in all breeds of cattle and propagated as a result of specific trait selection that inadvertently results in propagation of the defect. In some herds, the occurrence of inherited anomalies has become frequent, and economically important. Anomalous traits can affect animals in a range of ways, some being lethal or requiring euthanasia on humane grounds, others altering structure, function, or performance of affected animals. Veterinary practitioners should be aware of the potential for inherited defects, and be prepared to investigate and report animals exhibiting abnormal characteristics. This review will discuss the morphologic characteristics, mode of inheritance, breeding lines affected, and the availability of genetic testing for selected heritable bovine fetal abnormalities.
Than, Nwe Ni; Neuberger, James
Abnormalities of liver function (notably rise in alkaline phosphatase and fall in serum albumin) are common in normal pregnancy, whereas rise in serum bilirubin and aminotransferase suggest either exacerbation of underlying pre-existing liver disease, liver disease related to pregnancy or liver disease unrelated to pregnancy. Pregnant women appear to have a worse outcome when infected with Hepatitis E virus. Liver diseases associated with pregnancy include abnormalities associated hyperemesis gravidarum, acute fatty liver disease, pre-eclampsia, cholestasis of pregnancy and HELLP syndrome. Prompt investigation and diagnosis is important in ensuring a successful maternal and foetal outcome. In general, prompt delivery is the treatment of choice for acute fatty liver, pre-eclampsia and HELLP syndrome and ursodeoxycholic acid is used for cholestasis of pregnancy although it is not licenced for this indication.
Moore, A B M
A total of 10 abnormal free-swimming (i.e., post-birth) elasmobranchs are reported from The (Persian-Arabian) Gulf, encompassing five species and including deformed heads, snouts, caudal fins and claspers. The complete absence of pelvic fins in a milk shark Rhizoprionodon acutus may be the first record in any elasmobranch. Possible causes, including the extreme environmental conditions and the high level of anthropogenic pollution particular to The Gulf, are briefly discussed.
Pateria, Puraskar; de Boer, Bastiaan; MacQuillan, Gerry
Drug and substance abuse remains a major medical problem. Alcohol use, abuse and dependence are highly prevalent conditions. Alcohol related liver disease can present as simple steatosis, steatohepatitis, alcoholic hepatitis or liver cirrhosis. Paracetamol hepatotoxicity secondary to accidental or deliberate overdose is another common problem. While the adverse cardiovascular, neurological, renal and psychiatric consequences of various illicit substance abuses are widely studied and publicized, less attention has been directed towards possible hepatotoxic effects. Illicit drug abuse can cause a range of liver abnormalities ranging from asymptomatic derangement of liver function tests to fulminant hepatic failure. This article reviews the epidemiology, risk factors, clinical manifestations, pathogenesis, investigations, management and prognostic factors of alcohol related liver disease and paracetamol hepatotoxicity as well as the current knowledge pertaining to hepatotoxicity of the more commonly used illicit substances including cannabis, amphetamine type stimulants, cocaine, khat chewing and complementary and alternate medicine.
Cario, Holger; Smith, Desirée E.C.; Blom, Henk; Blau, Nenad; Bode, Harald; Holzmann, Karlheinz; Pannicke, Ulrich; Hopfner, Karl-Peter; Rump, Eva-Maria; Ayric, Zuleya; Kohne, Elisabeth; Debatin, Klaus-Michael; Smulders, Yvo; Schwarz, Klaus
The importance of intracellular folate metabolism is illustrated by the severity of symptoms and complications caused by inborn disorders of folate metabolism or by folate deficiency. We examined three children of healthy, distantly related parents presenting with megaloblastic anemia and cerebral folate deficiency causing neurologic disease with atypical childhood absence epilepsy. Genome-wide homozygosity mapping revealed a candidate region on chromosome 5 including the dihydrofolate reductase (DHFR) locus. DHFR sequencing revealed a homozygous DHFR mutation, c.458A>T (p.Asp153Val), in all siblings. The patients' folate profile in red blood cells (RBC), plasma, and cerebrospinal fluid (CSF), analyzed by liquid chromatography tandem mass spectrometry, was compatible with DHFR deficiency. DHFR activity and fluorescein-labeled methotrexate (FMTX) binding were severely reduced in EBV-immortalized lymphoblastoid cells of all patients. Heterozygous cells displayed intermediate DHFR activity and FMTX binding. RT-PCR of DHFR mRNA revealed no differences between wild-type and DHFR mutation-carrying cells, whereas protein expression was reduced in cells with the DHFR mutation. Treatment with folinic acid resulted in the resolution of hematological abnormalities, normalization of CSF folate levels, and improvement of neurological symptoms. In conclusion, the homozygous DHFR mutation p.Asp153Val causes DHFR deficiency and leads to a complex hematological and neurological disease that can be successfully treated with folinic acid. DHFR is necessary for maintaining sufficient CSF and RBC folate levels, even in the presence of adequate nutritional folate supply and normal plasma folate. PMID:21310277
Cario, Holger; Smith, Desirée E C; Blom, Henk; Blau, Nenad; Bode, Harald; Holzmann, Karlheinz; Pannicke, Ulrich; Hopfner, Karl-Peter; Rump, Eva-Maria; Ayric, Zuleya; Kohne, Elisabeth; Debatin, Klaus-Michael; Smulders, Yvo; Schwarz, Klaus
The importance of intracellular folate metabolism is illustrated by the severity of symptoms and complications caused by inborn disorders of folate metabolism or by folate deficiency. We examined three children of healthy, distantly related parents presenting with megaloblastic anemia and cerebral folate deficiency causing neurologic disease with atypical childhood absence epilepsy. Genome-wide homozygosity mapping revealed a candidate region on chromosome 5 including the dihydrofolate reductase (DHFR) locus. DHFR sequencing revealed a homozygous DHFR mutation, c.458A>T (p.Asp153Val), in all siblings. The patients' folate profile in red blood cells (RBC), plasma, and cerebrospinal fluid (CSF), analyzed by liquid chromatography tandem mass spectrometry, was compatible with DHFR deficiency. DHFR activity and fluorescein-labeled methotrexate (FMTX) binding were severely reduced in EBV-immortalized lymphoblastoid cells of all patients. Heterozygous cells displayed intermediate DHFR activity and FMTX binding. RT-PCR of DHFR mRNA revealed no differences between wild-type and DHFR mutation-carrying cells, whereas protein expression was reduced in cells with the DHFR mutation. Treatment with folinic acid resulted in the resolution of hematological abnormalities, normalization of CSF folate levels, and improvement of neurological symptoms. In conclusion, the homozygous DHFR mutation p.Asp153Val causes DHFR deficiency and leads to a complex hematological and neurological disease that can be successfully treated with folinic acid. DHFR is necessary for maintaining sufficient CSF and RBC folate levels, even in the presence of adequate nutritional folate supply and normal plasma folate.
Numerous molecular abnormalities have been described in lymphomas. They are of diagnostic and prognostic value and are taken into account for the WHO classification of these tumors. They also shed some light on the underlying molecular mechanisms involved in lymphomas. Overall, four types of molecular abnormalities are involved: mutations, translocations, amplifications and deletions of tumor suppressor genes. Several techniques are available to detect these molecular anomalies: conventional cytogenetic analysis, multicolor FISH, CGH array or gene expression profiling using DNA microarrays. In some lymphomas, genetic abnormalities are responsible for the expression of an abnormal protein (e.g. tyrosine-kinase, transcription factor) detectable by immunohistochemistry. In the present review, molecular abnormalities observed in the most frequent B, T or NK cell lymphomas are discussed. In the broad spectrum of diffuse large B-cell lymphomas microarray analysis shows mostly two subgroups of tumors, one with gene expression signature corresponding to germinal center B-cell-like (GCB: CD10+, BCL6 [B-Cell Lymphoma 6]+, centerine+, MUM1-) and a subgroup expressing an activated B-cell-like signature (ABC: CD10-, BCL6-, centerine-, MUM1+). Among other B-cell lymphomas with well characterized molecular abnormalies are follicular lymphoma (BCL2 deregulation), MALT lymphoma (Mucosa Associated Lymphoid Tissue) [API2-MALT1 (mucosa-associated-lymphoid-tissue-lymphoma-translocation-gene1) fusion protein or deregulation BCL10, MALT1, FOXP1. MALT1 transcription factors], mantle cell lymphoma (cycline D1 [CCND1] overexpression) and Burkitt lymphoma (c-Myc expression). Except for ALK (anaplastic lymphoma kinase)-positive anaplastic large cell lymphoma, well characterized molecular anomalies are rare in lymphomas developed from T or NK cells. Peripheral T cell lymphomas not otherwise specified are a heterogeneous group of tumors with frequent but not recurrent molecular abnormalities
Messaoud, O; Ben Rekaya, M; Kefi, R; Chebel, S; Boughammoura-Bouatay, A; Bel Hadj Ali, H; Gouider-Khouja, N; Zili, J; Frih-Ayed, M; Mokhtar, I; Abdelhak, S; Zghal, M
Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. The disease is classified into eight groups. Among them, XP group A (XP-A) is characterized by the presence of neurological abnormalities in addition to cutaneous symptoms. In the present study, we report a particular family with XP-A in which some members showed an atypical clinical presentation, i.e. unexplained neurological abnormalities with discrete skin manifestations. Molecular investigation allowed identification of a novel XPA mutation and complete phenotype-genotype correlation for this new phenotypic expression of XP-A.
The nervous system and the endocrine system are closely interrelated and both involved intimately in maintaining homeostasis. Endocrine dysfunctions may lead to various neurologic manifestations such as headache, myopathy, and acute encephalopathy including coma. It is important to recognize the neurologic signs and symptoms caused by the endocrine disorders while managing endocrine disorders. This article provides an overview of the neurologic manifestations found in various endocrine disorders that affect pediatric patients. It is valuable to think about 'endocrine disorder' as a cause of the neurologic manifestations. Early diagnosis and treatment of hormonal imbalance can rapidly relieve the neurologic symptoms. Better understanding of the interaction between the endocrine system and the nervous system, combined with the knowledge about the pathophysiology of the neurologic manifestations presented in the endocrine disorders might allow earlier diagnosis and better treatment of the endocrine disorders. PMID:25654063
Fernald, Charles D.
Describes activity in which student in abnormal psychology and psychology of exceptional children classes personally experience being judged abnormal. The experience allows the students to remember relevant research, become sensitized to the feelings of individuals classified as deviant, and use caution in classifying individuals as abnormal.…
Pearl, Phillip L
A variety of neurological problems have affected the lives of giants in the jazz genre. Cole Porter courageously remained prolific after severe leg injuries secondary to an equestrian accident, until he succumbed to osteomyelitis, amputations, depression, and phantom limb pain. George Gershwin resisted explanations for uncinate seizures and personality change and herniated from a right temporal lobe brain tumor, which was a benign cystic glioma. Thelonious Monk had erratic moods, reflected in his pianism, and was ultimately mute and withdrawn, succumbing to cerebrovascular events. Charlie Parker dealt with mood lability and drug dependence, the latter emanating from analgesics following an accident, and ultimately lived as hard as he played his famous bebop saxophone lines and arpeggios. Charles Mingus hummed his last compositions into a tape recorder as he died with motor neuron disease. Bud Powell had severe posttraumatic headaches after being struck by a police stick defending Thelonious Monk during a Harlem club raid.
Hafezparast, Majid; Ahmad-Annuar, Azlina; Wood, Nicholas W; Tabrizi, Sarah J; Fisher, Elizabeth M C
The mouse has many advantages over human beings for the study of genetics, including the unique property that genetic manipulation can be routinely carried out in the mouse genome. Most importantly, mice and human beings share the same mammalian genes, have many similar biochemical pathways, and have the same diseases. In the minority of cases where these features do not apply, we can still often gain new insights into mouse and human biology. In addition to existing mouse models, several major programmes have been set up to generate new mouse models of disease. Alongside these efforts are new initiatives for the clinical, behavioural, and physiological testing of mice. Molecular genetics has had a major influence on our understanding of the causes of neurological disorders in human beings, and much of this has come from work in mice.
Tracy, Jennifer A; Dyck, P James B
Porphyrias are rare disorders resulting from a defect in the heme biosynthetic pathway. They can produce significant disease of both the peripheral and central nervous systems, in addition to other organ systems, with acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria as the subtypes associated with neurologic manifestations. The presence of a motor-predominant peripheral neuropathy (axonal predominant), accompanied by gastrointestinal distress and neuropsychiatric manifestations, should be a strong clue to the diagnosis of porphyria. Clinical confirmation can be made through evaluation of urine porphyrins during an exacerbation of disease. While hematin is helpful for acute treatment, long-term effective management requires avoidance of overstimulation of the cytochrome P450 pathway, as well as other risk factor control.
Examines the techniques used in teaching an abnormal psychology class in a multimedia environment with two computers and a variety of audiovisual equipment. Students respond anonymously to various questions via keypads mounted on their desks, then immediately view and discuss summaries of their responses. (MJP)
Martin, M; Fangerau, H; Karenberg, A
The article discusses the consequences for neurology as a discipline which resulted from neurologists' participation in the crimes committed under National Socialism (NS). Chronologically, the current literature distinguishes mainly four overlapping stages: (1) a first phase was characterized by legal persecution and "denazification", which was also the time of the Nuremberg doctors' trial in which no neurologists were on trial. A detailed documentation of the trial for the German medical profession was published by Alexander Mitscherlich. (2) In the subsequent practice of wide amnestying and reintegration of former Nazi followers during the 1950s, neurologists were no exception as its elite continued in their positions. The year 1953 was the year of the Lisbon scandal, when chiefly Dutch representatives protested against the participation of Julius Hallervorden in the International Congress of Neurology. The newly founded societies, the German Society for Neurology (Deutsche Gesellschaft für Neurologie, DGN) and the German Society for Psychiatry and Neurology (Deutsche Gesellschaft für Psychiatrie und Neurologie, DGPN), unanimously supported their member. (3) The next period was characterized by a nascent criticism of the prevailing attitude of covering up the crimes committed by physicians during the Nazi period. The discovery of incriminating brain sections at various Max Planck Institutes brought neurology to the focus of the debate. (4) Since the 1980s and 1990s historians (of medicine) have been systematically examining medicine's Nazi past in a professional way, which resulted in a noticeable increase of knowledge. Additionally, a new generation of scholars provoked a change of mind insofar as they recognized medicine's responsibility for the crimes committed between 1933 and 1945. We expect that future historical research will further elucidate the history of neurology during the NS regime and have consequences for our current understanding of research
Robbins, Miriam R
Neurologic diseases can have a major impact on functional capacity. Patients with neurologic disease require individualized management considerations depending on the extent of impairment and impact on functional capacity. This article reviews 4 of the more common and significant neurologic diseases (Alzheimer disease, cerebrovascular accident/stroke, multiple sclerosis, and Parkinson disease) that are likely to present to a dental office and provides suggestions on the dental management of patients with these conditions.
Baron, Ralf; Ferriero, Donna M; Frisoni, Giovanni B; Bettegowda, Chetan; Gokaslan, Ziya L; Kessler, John A; Vezzani, Annamaria; Waxman, Stephen G; Jarius, Sven; Wildemann, Brigitte; Weller, Michael
Since the launch of our journal as Nature Clinical Practice Neurology in 2005, we have seen remarkable progress in many areas of neurology research, but what does the future hold? Will advances in basic research be translated into effective disease-modifying therapies, and will personalized medicine finally become a reality? For this special Viewpoint article, we invited a panel of Advisory Board members and other journal contributors to outline their research priorities and predictions in neurology for the next 10 years.
Neurology in England is expanding rapidly. In 2005 there were, on average, 7.2 (2.5) new and 16.8 (8.6) follow-up appointments per 1,000 population, an increase of 24% and 19% respectively since 2003. The chance of an individual being seen in this specialty varies widely according to primary care trust. This paper considers the causes and implications for neurological health, service delivery and neurology training.
Aldrete, J A
Of late, regional anesthesia has enjoyed unprecedented popularity; this increase in cases has brought a higher frequency of instances of neurological deficit and arachnoiditis that may appear as transient nerve root irritation, cauda equina, and conus medullaris syndromes, and later as radiculitis, clumped nerve roots, fibrosis, scarring dural sac deformities, pachymeningitis, pseudomeningocele, and syringomyelia, etc., all associated with arachnoiditis. Arachnoiditis may be caused by infections, myelograms (mostly from oil-based dyes), blood in the intrathecal space, neuroirritant, neurotoxic and/or neurolytic substances, surgical interventions in the spine, intrathecal corticosteroids, and trauma. Regarding regional anesthesia in the neuroaxis, arachnoiditis has resulted from epidural abscesses, traumatic punctures (blood), local anesthetics, detergents, antiseptics or other substances unintentionally injected into the spinal canal. Direct trauma to nerve roots or the spinal cord may be manifested as paraesthesia that has not been considered an injurious event; however, it usually implies dural penetration, as there are no nerve roots in the epidural space posteriorly. Sudden severe headache while or shortly after an epidural block using the loss of resistance to air approach usually suggests pneumocephalus from an intradural injection of air. Burning severe pain in the lower back and lower extremities, dysesthesia and numbness not following the usual dermatome distribution, along with bladder, bowel and/or sexual dysfunction, are the most common symptoms of direct trauma to the spinal cord. Such patients should be subjected to a neurological examination followed by an MRI of the effected area. Further spinal procedures are best avoided and the prompt administration of IV corticosteroids and NSAIDs need to be considered in the hope of preventing the inflammatory response from evolving into the proliferative phase of arachnoiditis.
Maas, E; Skoberne, T; Werner, A; Braun, S; Jackisch, C
We report on a rare case of paraneoplastic syndrome (PS) that was discovered on completion of diagnostic work-up to be an undifferentiated fallopian tube carcinoma. A 49-year-old Caucasian woman was admitted to neurology with vertigo, gait ataxia and dysarthria, transient ischaemic attack (TIA) and stroke were quickly excluded. Indicative for the further diagnosis of a paraneoplastic syndrome was the identification of onconeuronal antibodies the detection of which can be associated with certain tumour entities. The strongly positive anti-Yo antibody that is formed above all by breast and lung cancers as well as ovarian cancer led to a corresponding staging. The tumour markers CEA, CA 125 and CA 15-3 were in the normal ranges. Mammography and thorax CT were also unremarkable; on transvaginal sonography the internal genitals were inconspicuous except for a follicular cyst on the left. On abdominal CT the only conspicuous finding was a 1.5 cm ovarian cyst. After consensual agreement a bilateral laparoscopic adenexectomy was performed but with unremarkable abdominal findings. The histological examination confirmed a right-sided undifferentiated tubal carcinoma with the provisional classification FIGO IIA. After a stage-related staging operation, the final classification was found to be the FIGO-IIIC stage on account of positive retroperitoneal lymph nodes. Thus adjuvant chemotherapy with 6 cycles of carboplatin and paclitaxel was performed. By means of a timely, guideline-conform therapy for tubal carcinoma, the neurological symptoms and, above all, the dysarthria could be improved after 10 months.
Gaskin, J; Gomes, J; Darshan, S; Krewski, D
Neurological conditions are among the leading causes of disability in the Canadian population and are associated with a large public health burden. An increase in life expectancy and a declining birth rate has resulted in an aging Canadian population, and the proportion of age-adjusted mortality due to non-communicable diseases has been steadily increasing. These conditions are frequently associated with chronic disability and an increasing burden of care for patients, their families and caregivers. The National Population Health Study of Neurological Conditions (NPHSNC) aims to improve knowledge about neurological conditions and their impacts on individuals, their families, caregivers and health care system. The Systematic Review of Determinants of Neurological Conditions, a specific objective within the NPHSNC, is a compendium of systematic reviews on risk factors affecting onset and progression of the following 14 priority neurological conditions: Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), brain tumours (BT), cerebral palsy (CP), dystonia, epilepsy, Huntington's disease (HD), hydrocephalus, multiple sclerosis (MS), muscular dystrophies (MD), neurotrauma, Parkinson's disease (PD), spina bifida (SB), and Tourette's syndrome (TS). The burden of neurological disease is expected to increase as the population ages, and this trend is presented in greater detail for Alzheimer's and Parkinson's disease because the incidence of these two common neurological diseases increases significantly with age over 65 years. This article provides an overview of burden of neurological diseases in Canada to set the stage for the in-depth systematic reviews of the 14 priority neurological conditions presented in subsequent articles in this issue.
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Chapter 22, discusses abnormal human sex chromosome constitution. Aneuploidy of X chromosomes with a female phenotype, sex chromosome aneuploidy with a male phenotype, and various abnormalities in X chromosome behavior are described. 31 refs., 2 figs.
Satterfield, James H.; And Others
A study of neurological examinations, electroencephalographic findings, and behavioral responses to methylphenidate treatment in 57 hyperactive boys, 5 to 10 years of age, is reported and discussed. (Author/MC)
KÖŞKDERELİOĞLU, Aslı; ORTAN, Pınar; ARI, Alpay; GEDİZLİOĞLU, Muhteşem
Introduction To investigate the existence of peripheral and optic neuropathies in asymptomatic individuals with hepatitis C infection. Methods Thirty consecutive patients who were followed in a hepatitis C outpatient clinic were recruited for electrophysiological evaluation together with 30 age- and gender-compatible healthy controls. All patients had a detailed neurological examination. The information regarding the disease duration and management with interferons were collected. Nerve conduction studies and visual evoked potentials (VEP) were recorded in all subjects. The results of the patient and control groups were statistically compared. Results Of the patients with hepatitis C infection, 16 were females and 14 males. The mean age was 57.5 years, and the average disease duration was 6.43 years. The P100 latencies in the patient group were within normal limits, while the amplitudes were meaningfully small by comparison with the controls. There were some abnormalities in the nerve conduction studies of 15 patients. Sensorial neuropathy was detected in two patients, sensorimotor polyneuropathy in four, carpal tunnel syndrome in seven, and carpal tunnel syndrome and sensorimotor polyneuropathy as comorbid states in another two patients. The nerve conduction studies and VEP parameters were entirely normal in the control group. Conclusion Hepatitis C-related neurological abnormalities may occur both in the central and peripheral nervous system. Mononeuritis multiplex, sensorial axonal neuropathy, and multiple mononeuropathies are some of the presentations of the peripheral nervous system involvement. The mode of infection is considered to be via vasculitic mechanisms. In addition, optic neuropathy is a known complication of interferon treatment. Autoantibodies, cytokines, chemokines, and cryoglobulins are accused to play roles in the pathogenesis. In this study, we investigated the involvement of the peripheral nervous system and optic nerves in a group of patients
Yorifuji, Takashi; Kato, Tsuguhiko; Ohta, Hitoshi; Bellinger, David C; Matsuoka, Kenichi; Grandjean, Philippe
During the summer of 1955, mass arsenic poisoning of bottle-fed infants occurred in the western part of Japan due to contaminated milk powder, and more than 100 died; some childhood victims were later found to suffer from neurological sequelae in adolescence. This unique incident enabled us to explore infancy as a critical period of arsenic exposure in regard to developmental neurotoxicity and its possible persistence through adulthood. The purpose of this work is to evaluate the association between developmental arsenic exposure and the neurological outcomes more than 50 years later. We conducted a retrospective cohort study during the period from April 2012 to February 2013 in two hospitals in Okayama Prefecture, Japan. The study sample consisted of 50 individuals: 27 known poisoning victims from Okayama Prefecture, and 23 non-exposed local controls of similar age. In addition to neurological examination, we adapted a battery of neurophysiological and neuropsychological tests to identify the types of brain functions affected by early-life arsenic exposure. While limited abnormalities were found in the neurophysiological tests, neuropsychological deficits were observed. Except for Finger tapping, all test scores in the exposed group--Vocabulary and Block Design from Wechsler Adults Intelligent Scale III, Design memory subtest from Wide Range Assessment of Memory and Learning 2, and Grooved pegboard test--were substantially below those obtained by the unexposed. The exposed group showed average performance at least 1.2 standard deviations below the average for the controls. Exposed participants performed less well than controls, even after exclusion of subjects with recognized disabilities or those with a high level of education. Adults who had suffered arsenic poisoning during infancy revealed neuropsychological dysfunctions, even among those subjects not recognized as having disabilities. Developmental neurotoxicity due to arsenic likely results in permanent
Background Several studies in the United Kingdom and Asia have suggested that medical students and residents have particular difficulty in diagnosing and managing patients with neurological problems. Little recent information is available for US trainees. We examined whether students and residents at a US university have difficulty in dealing with patients with neurological problems, identified the perceived sources of these difficulties and provide suggestions for the development of an effective educational experience in neurology. Methods A questionnaire was administered to third and fourth year medical students at a US school of medicine and to residents of an internal medicine residency program affiliated with that school. Perceived difficulties with eight medical specialties, including neurology, were examined. Methods considered to be most useful for learning medicine were documented. Reasons why neurology is perceived as difficult and ways to improve neurological teaching were assessed. Results 152 surveys were completed. Participation rates varied, with medical students having higher response rates (> 50%) than medical residents (27%-48%). Respondents felt that neurology was the medical specialty they had least knowledge in (p < 0.001) and was most difficult (p < 0.001). Trainees also felt they had the least confidence when dealing with patients with neurological complaints (p < 0.001). Residents felt more competent in neurology than students (p < 0.001). The paramount reasons for perceived difficulties with neurology were the complexity of neuroanatomy, limited patient exposure and insufficient teaching. Transition from pre-clinical to clinical medicine led to a doubling of "poor" ratings for neurological teaching. Over 80% of the respondents felt that neurology teaching could be improved through greater exposure to patients and more bedside tutorials. Conclusions Medical students and residents at this US medical university found neurology difficult
Amador, Claudia; Mathews, Anne M; Del Carmen Montoya, Maria; Laughridge, Mary E; Everman, David B; Holden, Kenton R
We report a 4-generation Hispanic family with oculodentodigital dysplasia whose members were found to have typical phenotypic characteristics of this disorder, as well as a variable expression of neurologic manifestations in multiple generations ranging from a mild spastic gait to moderate to severe spastic tetraparesis/quadriplegia with epilepsy and an abnormal brain and spinal cord magnetic resonance imaging result. Gene testing documented a previously reported missense mutation in GJA1 (connexin 43) exon 2 (c.389T>C;p.I130T). Our evaluation not only expands the phenotypes associated with GJA1 gene mutations but also demonstrates that a great degree of variability in neurological defects can exist within a single family without evidence of genetic anticipation. A genotype-phenotype correlation between the p.I130T mutation and neurologic dysfunction appears more likely with the addition of this report's neurologic and GJA1 gene mutation findings. These findings expand the neurologic phenotype and prognosis and underscore the importance of counseling families with oculodentodigital dysplasia about the possibility of neurologic involvement.
Blanc-Durand, Paul; Van Der Gucht, Axel; Aoun Sebaiti, Mehdi; Abulizi, Mukedaisi; Authier, Francois-Jérome; Itti, Emmanuel
We address this letter in addition to our recent published study (1). The aim is to add some insight to the evolution of the brain abnormalities that are observed with macrophagic myofasciitis (MMF). MMF is a chronic disease whom evolution is slow and symptoms first may occurs from months to year after a vaccination containing aluminium hydroxid adjuvants (2). Nevertheless, its evolution is not fully understood or known. MMF associated cognitive dysfunction (MACD) is based on a tripod combining dysexecutive syndrom, visual memory impairment and interhemispheric disconnection. One pilot study suggest that MACD appears clinically stable over time (3). One recent study evaluating a support vector machine classifier also suggest that the abnormalities observed with 18-fluorodeoxyglose positron emission tomography ((18)F-FDG PET) may be sensitive and could be used to monitor patients. The study population comes from cohort followed in our Reference Center for Rare Neuromuscular Diseases and data were collected retrospectively. Among those patients, 15 had two consecutives (18)F-FDG PET brain acquisitions (median age 42.1 [range 20.9 to 63.5]) following the same brain protocol acquisition as previously described (1). Median time duration between the two examinations was 2.3 years (range 0.5 to 4]. Using analysis of covariance and negative or positive contrast in SPM12, a t-test mask was generated from the comparison between the two means of the first cerebral (18)F-FDG PET images and between the mean of the second acquisition. Results of the comparison were collected at a P-value < 0.005 at the voxel level, for clusters k ≥ 200 voxels (corrected for cluster volume) with adjustment for age. Brain abnormalities maps didn't show any statistical difference between the two examinations confirming the idea that MMF is a slowly or not progressive disease and it is in concordance with the fact that neurological symptoms even if fluctuate do not worsen over time (nor ameliorate).
Graziano, Amy B; Johnson, Julene K
This chapter examines connections between research in music, neurology, and psychology during the late-nineteenth century. Researchers in all three disciplines investigated how music is processed by the brain. Psychologists and comparative musicologists, such as Carl Stumpf, thought in terms of multiple levels of sensory processing and mental representation. Early thinking about music processing can be linked to the start of Gestalt psychology. Neurologists such as August Knoblauch also discussed multiple levels of music processing, basing speculation on ideas about language processing. Knoblauch and others attempted to localize music function in the brain. Other neurologists, such as John Hughlings Jackson, discussed a dissociation between music as an emotional system and language as an intellectual system. Richard Wallaschek seems to have been the only one from the late-nineteenth century to synthesize ideas from musicology, psychology, and neurology. He used ideas from psychology to explain music processing and audience reactions and also used case studies from neurology to support arguments about the nature of music. Understanding the history of this research sheds light on the development of all three disciplines-musicology, neurology, and psychology.
Shakespeare, Timothy J; Kaski, Diego; Yong, Keir X X; Paterson, Ross W; Slattery, Catherine F; Ryan, Natalie S; Schott, Jonathan M; Crutch, Sebastian J
The clinico-neuroradiological syndrome posterior cortical atrophy is the cardinal 'visual dementia' and most common atypical Alzheimer's disease phenotype, offering insights into mechanisms underlying clinical heterogeneity, pathological propagation and basic visual phenomena (e.g. visual crowding). Given the extensive attention paid to patients' (higher order) perceptual function, it is surprising that there have been no systematic analyses of basic oculomotor function in this population. Here 20 patients with posterior cortical atrophy, 17 patients with typical Alzheimer's disease and 22 healthy controls completed tests of fixation, saccade (including fixation/target gap and overlap conditions) and smooth pursuit eye movements using an infrared pupil-tracking system. Participants underwent detailed neuropsychological and neurological examinations, with a proportion also undertaking brain imaging and analysis of molecular pathology. In contrast to informal clinical evaluations of oculomotor dysfunction frequency (previous studies: 38%, current clinical examination: 33%), detailed eyetracking investigations revealed eye movement abnormalities in 80% of patients with posterior cortical atrophy (compared to 17% typical Alzheimer's disease, 5% controls). The greatest differences between posterior cortical atrophy and typical Alzheimer's disease were seen in saccadic performance. Patients with posterior cortical atrophy made significantly shorter saccades especially for distant targets. They also exhibited a significant exacerbation of the normal gap/overlap effect, consistent with 'sticky fixation'. Time to reach saccadic targets was significantly associated with parietal and occipital cortical thickness measures. On fixation stability tasks, patients with typical Alzheimer's disease showed more square wave jerks whose frequency was associated with lower cerebellar grey matter volume, while patients with posterior cortical atrophy showed large saccadic intrusions
Kaski, Diego; Yong, Keir X. X.; Paterson, Ross W.; Slattery, Catherine F.; Ryan, Natalie S.; Schott, Jonathan M.; Crutch, Sebastian J.
The clinico-neuroradiological syndrome posterior cortical atrophy is the cardinal ‘visual dementia’ and most common atypical Alzheimer’s disease phenotype, offering insights into mechanisms underlying clinical heterogeneity, pathological propagation and basic visual phenomena (e.g. visual crowding). Given the extensive attention paid to patients’ (higher order) perceptual function, it is surprising that there have been no systematic analyses of basic oculomotor function in this population. Here 20 patients with posterior cortical atrophy, 17 patients with typical Alzheimer’s disease and 22 healthy controls completed tests of fixation, saccade (including fixation/target gap and overlap conditions) and smooth pursuit eye movements using an infrared pupil-tracking system. Participants underwent detailed neuropsychological and neurological examinations, with a proportion also undertaking brain imaging and analysis of molecular pathology. In contrast to informal clinical evaluations of oculomotor dysfunction frequency (previous studies: 38%, current clinical examination: 33%), detailed eyetracking investigations revealed eye movement abnormalities in 80% of patients with posterior cortical atrophy (compared to 17% typical Alzheimer’s disease, 5% controls). The greatest differences between posterior cortical atrophy and typical Alzheimer’s disease were seen in saccadic performance. Patients with posterior cortical atrophy made significantly shorter saccades especially for distant targets. They also exhibited a significant exacerbation of the normal gap/overlap effect, consistent with ‘sticky fixation’. Time to reach saccadic targets was significantly associated with parietal and occipital cortical thickness measures. On fixation stability tasks, patients with typical Alzheimer’s disease showed more square wave jerks whose frequency was associated with lower cerebellar grey matter volume, while patients with posterior cortical atrophy showed large
Gibbons, Christopher P
Neurological problems are common in patients undergoing haemodialysis. Over 60% of patients will suffer from symptoms of underlying polyneuropathy due to uraemia or diabetes. Others will have subclinical disease demonstrable by nerve conduction studies. Nerve injury following haemodialysis access surgery is underreported. However, sensory nerve lesions are probably common after most vascular access procedures but are rarely debilitating. Nerve compression syndromes such as carpal tunnel and ulnar compression syndromes are common, especially in patients who have been on dialysis for some years and at least some of these are related to or exacerbated by the access. Recognition is essential as they are eminently treatable by decompression surgery. Tourniquet use appears to be safe for carpal tunnel or ulnar nerve decompression surgery. Ischaemic monomelic neuropathy (IMN) is rare but follows a period of ischaemia during or as a result of access surgery, most commonly to construct a brachial arteriovenous fistula or graft. It is characterised by intense pain, out of proportion to any ischaemia, involves all of the upper limb nerves and may progress to involve the motor nerves eventually resulting in a useless clawed hand. It requires prompt treatment of any residual ischaemia after access creation, if necessary by access ligation, as in the established syndrome, like the even rarer complication of reflex sympathetic dystrophy, it is very difficult to offer any useful treatment other than symptomatic relief and physiotherapy.
Gunderson, Carl H; Daroff, Robert B
Between December 1965 and December 1971, the United States maintained armed forces in Vietnam never less than 180,000 men and women in support of the war. At one time, this commitment exceeded half a million soldiers, sailors, and airmen from both the United States and its allies. Such forces required an extensive medical presence, including 19 neurologists. All but two of the neurologists had been drafted for a 2-year tour of duty after deferment for residency training. They were assigned to Vietnam for one of those 2 years in two Army Medical Units and one Air Force facility providing neurological care for American and allied forces, as well as many civilians. Their practice included exposure to unfamiliar disorders including cerebral malaria, Japanese B encephalitis, sleep deprivation seizures, and toxic encephalitis caused by injection or inhalation of C-4 explosive. They and neurologists at facilities in the United States published studies on all of these entities both during and after the war. These publications spawned the Defense and Veterans Head Injury Study, which was conceived during the Korean War and continues today as the Defense and Veterans Head Injury Center. It initially focused on post-traumatic epilepsy and later on all effects of brain injury. The Agent Orange controversy arose after the war; during the war, it was not perceived as a threat by medical personnel. Although soldiers in previous wars had developed serious psychological impairments, post-traumatic stress disorder was formally recognized in the servicemen returning from Vietnam.
Cacioppo, Stephanie; Capitanio, John P.; Cacioppo, John T.
Social isolation has been recognized as a major risk factor for morbidity and mortality in humans for more than a quarter century. The brain is the key organ of social connections and processes, however, and the same objective social relationship can be experienced as caring and protective or as exploitive and isolating. We review evidence that the perception of social isolation (i.e., loneliness) impacts brain and behavior and is a risk factor for broad-based morbidity and mortality. However, the causal role of loneliness on neural mechanisms and mortality is difficult to test conclusively in humans. Mechanistic animal studies provide a lens through which to evaluate the neurological effects of a member of a social species living chronically on the social perimeter. Experimental studies show that social isolation produces significant changes in brain structures and processes in adult social animals. These effects are not uniform across the brain or across species but instead are most evident in brain regions that reflect differences in the functional demands of solitary versus social living for a particular species. The human and animal literatures have developed independently, however, and significant gaps also exist. The current review underscores the importance of integrating human and animal research to delineate the mechanisms through which social relationships impact the brain, health, and well-being. PMID:25222636
Misra, U K; Kalita, J; Mishra, S K; Yadav, R K
Advances in telecommunication which started with telephone lines, FAX, integrated service digital network (ISDN) lines and now internet have provided an unprecedented opportunity for transfer of knowledge and sharing of information. The information can be used for overlapping applications in patient care, teaching and research. In medicine there is increasing utilization of telemedicine; radiology and pathology being regarded as mature specialties and emergency medicine as maturing specialties compared to other evolving specialties which include psychiatry, dermatology, cardiology and ophthalmology. Of the emergencies, status epilepticus and stroke have high potential for improving patient management. Administration of tPA was more frequent when carried out under telemedicine guidance. Telemedicine has great potential for medical education. The principles of education are in congruence with those of telemedicine and can be closely integrated in the existing medical education system. Our experience of telemedicine as a medical education tool is based on video conferencing with SCB Medical College, Cuttack. We had 30 sessions during 2001 to 2004 in which 2-3 cases were discussed in each session. The patients' details, radiological and neurophysiological findings could be successfully transmitted. These conferences improved the knowledge of participants, provided an opportunity for a second opinion as well as modified the treatment decisions in some cases. The advances in telemedicine should be utilized more extensively in neurology, especially in emergency management, epilepsy and stroke patients as well, as it may have a role in neurophysiology and movement disorders.
Brown, R J
Dissociation has been cited as a possible psychologic mechanism underpinning functional neurologic disorders (FND) since the 19th century. Since that time, changes in psychiatric classification have created confusion about what the term dissociation actually means. The available evidence suggests that it now refers to at least two qualitatively distinct types of phenomena: detachment (an altered state of consciousness characterized by a sense of separation from the self or world) and compartmentalization (a reversible loss of voluntary control over apparently intact processes and functions), as well as their underlying mechanisms. This chapter considers some of the problems with conflating these phenomena under a single heading as well as the relationship between detachment, compartmentalization, and FND. It is argued that FNDs are fundamentally compartmentalization disorders, but that detachment is often part of the clinical picture and may contribute to the development and maintenance of functional symptoms in many cases. By this view, understanding compartmentalization requires an appreciation of the mechanisms involved in controlling and accessing mental processes and contents. Two possible mechanisms in this regard are described and the evidence for these is considered, followed by a discussion of clinical and empiric implications.
Pruitt, Amy A.; Graus, Francesc; Rosenfeld, Myrna R.
Solid organ transplantation (SOT) is the preferred treatment for an expanding range of conditions whose successful therapy has produced a growing population of chronically immunosuppressed patients with potential neurological problems. While the spectrum of neurological complications varies with the type of organ transplanted, the indication for the procedure, and the intensity of long-term required immunosuppression, major neurological complications occur with all SOT types. The second part of this 2-part article on transplantation neurology reviews central and peripheral nervous system problems associated with SOT with clinical and neuroimaging examples from the authors’ institutional experience. Particular emphasis is given to conditions acquired from the donated organ or tissue, problems specific to types of organs transplanted and drug therapy-related complications likely to be encountered by hospitalists. Neurologically important syndromes such as immune reconstitution inflammatory syndrome (IRIS), posterior reversible encephalopathy syndrome (PRES), and posttransplantation lymphoproliferative disorder (PTLD) are readdressed in the context of SOT. PMID:24167649
Albert, Dara V F; Patel, Anup D; Behnam-Terneus, Maria; Sautu, Beatriz Cunill-De; Verbeck, Nicole; McQueen, Alisa; Fromme, H Barrett; Mahan, John D
The aim of this study was to evaluate whether the current state of child neurology education during pediatric residency provides adequate preparation for pediatric practice. A survey was sent to recent graduates from 3 pediatric residency programs to assess graduate experience, perceived level of competence, and desire for further education in child neurology. Responses from generalists versus subspecialists were compared. The response rate was 32%, half in general pediatric practice. Only 22% feel very confident in approaching patients with neurologic problems. This may represent the best-case scenario as graduates from these programs had required neurology experiences, whereas review of Accreditation Council of Graduate Medical Education-accredited residency curricula revealed that the majority of residencies do not. Pediatric neurologic problems are common, and pediatric residency graduates do encounter such problems in practice. The majority of pediatricians report some degree of confidence; however, some clear areas for improvement are apparent.
Brenton, D. P.
The skeletal changes of thirty-four patients with the biochemical and clinical features of cystathionine synthase deficiency are described. It is emphasized that there is clinical evidence of excessive bone growth and the formation for bone which is structurally weaker than normal. The similarities and differences between this condition and Marfan's syndrome are stressed and the possible nature of the connective tissue defect leading to the skeletal changes discussed. The most characteristic skeletal changes in homocystinuria are the skeletal disproportion (pubis-heel length greater than crown-pubis length), the abnormal vertebrae, sternal deformities, genu valgum and large metaphyses and epiphyses. Images Fig. 2 Fig. 3 Fig. 4 Fig. 8 Fig. 9 Fig. 10 PMID:917963
Moncayo, Jorge; Bogousslavsky, Julien
Generation and control of eye movements requires the participation of the cortex, basal ganglia, cerebellum and brainstem. The signals of this complex neural network finally converge on the ocular motoneurons of the brainstem. Infarct or hemorrhage at any level of the oculomotor system (though more frequent in the brain-stem) may give rise to a broad spectrum of eye movement abnormalities (EMAs). Consequently, neurologists and particularly stroke neurologists are routinely confronted with EMAs, some of which may be overlooked in the acute stroke setting and others that, when recognized, may have a high localizing value. The most complex EMAs are due to midbrain stroke. Horizontal gaze disorders, some of them manifesting unusual patterns, may occur in pontine stroke. Distinct varieties of nystagmus occur in cerebellar and medullary stroke. This review summarizes the most representative EMAs from the supratentorial level to the brainstem.
Leekam, Susan R.; Nieto, Carmen; Libby, Sarah J.; Wing, Lorna; Gould, Judith
Patterns of sensory abnormalities in children and adults with autism were examined using the Diagnostic Interview for Social and Communication Disorders (DISCO). This interview elicits detailed information about responsiveness to a wide range of sensory stimuli. Study 1 showed that over 90% of children with autism had sensory abnormalities and had…
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Barker, Fred G; McDermott, Michael W
An important goal of the Section on Tumors of the American Association of Neurological Surgeons (AANS) and Congress of Neurological Surgeons (CNS) since its founding in 1985 has been to foster both education and research in the field of brain tumor treatment. As one means of achieving this, the Section awards a number of prizes, research grants, and named lectures at the annual meetings of the AANS and CNS. After a brief examination of similar honors that were given in recognition of pioneering work by Knapp, Cushing, and other early brain tumor researchers, the authors describe the various awards given by the AANS/CNS Section on Tumors since its founding, their philanthropic donors, and the recipients of the awards. The subsequent career of the recipients is briefly examined, in terms of the rate of full publication of award-winning abstracts and achievement of grant funding by awardees.
Hirjak, Dusan; Wolf, Robert C; Paternoga, Isa; Kubera, Katharina M; Thomann, Anne K; Stieltjes, Bram; Maier-Hein, Klaus H; Thomann, Philipp A
Neurological soft signs (NSS) are frequently found in psychiatric disorders of significant neurodevelopmental origin. Previous MRI studies in schizophrenia have shown that NSS are associated with abnormal cortical, thalamic and cerebellar structure and function. So far, however, no neuroimaging studies investigated brain correlates of NSS in individuals with Asperger-Syndrome (AS) and the question whether the two disorders exhibit common or disease-specific cortical correlates of NSS remains unresolved. High-resolution MRI data at 3 T were obtained from 48 demographically matched individuals (16 schizophrenia patients, 16 subjects with AS and 16 healthy individuals). The surface-based analysis via Freesurfer enabled calculation of cortical thickness, area and folding (local gyrification index, LGI). NSS were examined on the Heidelberg Scale and related to cortical measures. In schizophrenia, higher NSS were associated with reduced cortical thickness and LGI in fronto-temporo-parietal brain areas. In AS, higher NSS were associated with increased frontotemporal cortical thickness. This study lends further support to the hypothesis that disorder-specific mechanisms contribute to NSS expression in schizophrenia and AS. Pointing towards dissociable neural patterns may help deconstruct the complex processes underlying NSS in these neurodevelopmental disorders.
Sarfo, Fred Stephen; Akassi, John; Badu, Elizabeth; Okorozo, Aham; Ovbiagele, Bruce; Akpalu, Albert
Background Although the burden of neurological disorders is highest among populations in developing countries there is a dearth of data on the clinical spectrum of these disorders. Objective To profile the frequency of neurologic disorders and basic demographic data in an adult neurology out-patient service commissioned in 2011 in Kumasi, Ghana. Methods The study was conducted at the neurology clinic of the Komfo Anokye Teaching Hospital in Kumasi, Ghana. Over a three year period, all medical records of patients enrolled at the out-patient neurology clinic was reviewed by a neurologist and neurological diagnoses classified according to ICD-10. Results 1812 adults enrolled for care in the neurology out-patient service between 2011 and 2013. This comprised of 882 males and 930 females (male: female ratio of 1.0: 1.1) with an overall median age of 54 (IQR, 39–69) years. The commonest primary neurological disorders seen were strokes, epilepsy and seizure disorders, and movement disorders at frequencies of 57.1%, 19.8%, and 8.2% respectively. Conclusions Cerebrovascular diseases, epilepsy and movement disorders were among the commonest neurological disorders and the major contributors to neurologic morbidity among Ghanaians in an urban neurology clinic. PMID:27110596
Calabrò, Rocco Salvatore; Cacciola, Alberto; Bertè, Francesco; Manuli, Alfredo; Leo, Antonino; Bramanti, Alessia; Naro, Antonino; Milardi, Demetrio; Bramanti, Placido
Gait abnormalities following neurological disorders are often disabling, negatively affecting patients' quality of life. Therefore, regaining of walking is considered one of the primary objectives of the rehabilitation process. To overcome problems related to conventional physical therapy, in the last years there has been an intense technological development of robotic devices, and robotic rehabilitation has proved to play a major role in improving one's ability to walk. The robotic rehabilitation systems can be classified into stationary and overground walking systems, and several studies have demonstrated their usefulness in patients after severe acquired brain injury, spinal cord injury and other neurological diseases, including Parkinson's disease, multiple sclerosis and cerebral palsy. In this review, we want to highlight which are the most widely used devices today for gait neurological rehabilitation, focusing on their functioning, effectiveness and challenges. Novel and promising rehabilitation tools, including the use of virtual reality, are also discussed.
Kaneko, Miki; Yamashita, Yushiro; Iramina, Keiji
Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by symptoms of inattention, hyperactivity, and impulsivity. Soft neurological signs (SNS) are minor neurological abnormalities in motor performance, and are used as one evaluation method for neurodevelopmental delays in children with ADHD. Our aim is to establish a quantitative evaluation system for children with ADHD. We focused on the arm movement called pronation and supination, which is one such soft neurological sign. Thirty three children with ADHD aged 7-11 years (27 males, six females) and twenty five adults participants aged 21-29 years old (19 males, six females) participated in our experiments. Our results suggested that the pronation and supination function in children with ADHD has a tendency to lag behind that of typically developing children by several years. From these results, our system has a possibility to objectively evaluate the neurodevelopmental delay of children with ADHD.
Kahn, A; Haase, G; Akli, S; Guidotti, J E
In hereditary neurological diseases, gene transfer into neurons is made difficult by: the nature of the cells (postmitotic cells, that cannot be cultured, genetically modified ex vivo, then retransplanted), sometimes, their widespread localization, the blood-brain barrier. However, three viral vectors derived from adenovirus, Herpes simplex virus and adeno-associated virus have been shown to be very efficient in transferring DNA into brain cells. All of these vectors can infect resting cells, especially neurons, and are efficient in vivo. Retroviral vectors which can infect dividing cells only are mainly used for ex vivo genetic modification of cells (neural progenitor cells, myoblasts, fibroblasts) followed by intracerebral transplantation. Alternatively, genetically modified cells can be transplanted in a peripheral site if the transgene product is able to cross the blood-brain barrier or to be transported retrogradely from the nerve terminals. We have especially investigated the potential interest of adenoviral vectors to transfer foreign genes into brain cells and to treat animal models of neurological diseases. These vectors allowed us to transfer the lacZ gene into any neural cell type, including neurons, glia, photoreceptors and olfactory receptors, ex vivo, in cell culture, and in vivo, by stereotactic administration. In addition, axonal transport of adenoviral vectors has been demonstrated, e.g. in the substantia nigra after injection into the striatum, in the olfactory bulb after intranasal instillation and in spinal motor neurons after intramuscular injection. After intracerebroventricular injection, ependymal cells are massively infected and express the transgene for several months, as this is also observed in neurons. Through the spinal canal and cerebrospinal fluid, the vector can diffuse to a considerable distance from the injection point, e.g. to the lumbar spinal cord after injection in the suboccipital region. To test the biological function of
Kawamura, Mitsuru; Sugimoto, Azusa; Kobayakawa, Mutsutaka; Tsuruya, Natsuko
To discuss the neurological basis of facial recognition, we present our case reports of impaired recognition and a review of previous literature. First, we present a case of infarction and discuss prosopagnosia, which has had a large impact on face recognition research. From a study of patient symptoms, we assume that prosopagnosia may be caused by unilateral right occipitotemporal lesion and right cerebral dominance of facial recognition. Further, circumscribed lesion and degenerative disease may also cause progressive prosopagnosia. Apperceptive prosopagnosia is observed in patients with posterior cortical atrophy (PCA), pathologically considered as Alzheimer's disease, and associative prosopagnosia in frontotemporal lobar degeneration (FTLD). Second, we discuss face recognition as part of communication. Patients with Parkinson disease show social cognitive impairments, such as difficulty in facial expression recognition and deficits in theory of mind as detected by the reading the mind in the eyes test. Pathological and functional imaging studies indicate that social cognitive impairment in Parkinson disease is possibly related to damages in the amygdalae and surrounding limbic system. The social cognitive deficits can be observed in the early stages of Parkinson disease, and even in the prodromal stage, for example, patients with rapid eye movement (REM) sleep behavior disorder (RBD) show impairment in facial expression recognition. Further, patients with myotonic dystrophy type 1 (DM 1), which is a multisystem disease that mainly affects the muscles, show social cognitive impairment similar to that of Parkinson disease. Our previous study showed that facial expression recognition impairment of DM 1 patients is associated with lesion in the amygdalae and insulae. Our study results indicate that behaviors and personality traits in DM 1 patients, which are revealed by social cognitive impairment, are attributable to dysfunction of the limbic system.
In this paper, I described clinical and basic problems on neurology of the aged patients. These studies have been done in various institutions with many co-workers. 1) A PET study revealed some age differences on CBF, CMRO2, or CMRgl. But these results are not so rigid in which much of individual variations should be considered in interpretation. Calendar age is not always compatible to biological age. 2) Saccular aneurysms in the brain artery were found in 7.3% of 1200 routine autopsy series of the aged subjects. Aneurysms with external diameter exceeding 6 mm had been fatally ruptured in 14 (78%) of 18 subjects. 3) Variations of the pyramidal crossing are found responsible for bizarre clinical manifestations. Non-crossing component was more prominent in the right pyramidal tract; consequently, right pyramidal tracts including ventral and lateral one seemed to have more extensive representation in the spinal cord level. 4) I123-IMP SPECT study showed a reduced uptake in the area 4 or area 4-6 of the ALS patients. 5) I introduced a new simplified Wartenberg's maneuver, which is useful for detection of subtle pyramidal dysfunctions. 6) Cases with central pontine myelinolysis and those of paraneoplastic syndrome were presented with an emphasis on their patho-chemical mechanisms. 7) Lewis-Sumner syndrome showing multifocal persistent conduction block is not rare in the aged, in which we have already had some useful therapeutic methods. 8) Dementia complicated with neurodegenerative disease was discussed on its clinical and chemical features of mental disturbances. In ALS-dementia, CSF-homovanilic acid reduced significantly than in the control and L-dopa was effective in some patients. 9) Vascular and Alzheimer-type dementias were presented and discussed on their pathogenetic mechanism according to our recent studies with review of literature.
Sharma, Arti B.; Barlow, Matthew A.; Yang, Shao-Hua; Simpkins, James W.; Mallet, Robert T.
Purpose Cerebral oxidative stress and metabolic dysfunction impede neurological recovery from cardiac arrest-resuscitation. Pyruvate, a potent antioxidant and energy-yielding fuel, has been shown to protect against oxidant- and ischemia-induced neuronal damage. This study tested whether acute pyruvate treatment during cardiopulmonary resuscitation can prevent neurological dysfunction and cerebral injury following cardiac arrest. Methods Anesthetized, open-chest mongrel dogs underwent 5 min cardiac arrest, 5 min open chest cardiac compression (OCCC), defibrillation and 3 day recovery. Pyruvate (n = 9) or NaCl volume control (n = 8) were administered (0.125 mmol/kg/min iv) throughout OCCC and the first 55 min recovery. Sham dogs (n = 6) underwent surgery and recovery without cardiac arrest-resuscitation. Results Neurological deficit score (NDS), evaluated at 2 day recovery, was sharply increased in NaCl-treated dogs (10.3 ± 3.5) vs. shams (1.2 ± 0.4), but pyruvate treatment mitigated neurological deficit (NDS = 3.3 ± 1.2; P < 0.05 vs. NaCl). Brain samples were taken for histological examination and evaluation of inflammation and cell death at 3 d recovery. Loss of pyramidal neurons in the hippocampal CA1 subregion was greater in the NaCl controls than in pyruvate treated dogs (11.7 ± 2.3% vs. 4.3 ± 1.2%; P < 0.05). Cardiac arrest increased caspase 3 activity, matrix metalloproteinase activity, and DNA fragmentation in the CA1 subregion; pyruvate prevented caspase-3 activation and DNA fragmentation, and suppressed matrix metalloproteinase activity. Conclusion Intravenous pyruvate therapy during cardiopulmonary resuscitation prevents initial oxidative stress and neuronal injury and enhances neurological recovery from cardiac arrest. PMID:17618729
Bertorini, Tulio E; Perez, Angel
Disorders of the adrenal glands frequently have secondary neurological manifestations, while some diseases that involve the central nervous system are accompanied by adrenal gland dysfunction. Excessive corticosteroid secretions in primary or secondary Cushing's syndrome causes muscle weakness and behavioral disturbances, such as emotional lability and sometimes depression, while adrenal insufficiency may cause fatigue, weakness, and depression. Adrenoleukodystrophy and adrenoneuromyelopathy are X-linked recessive disorders of the metabolism of very long chain fatty acids that manifest with white matter abnormalities of the brain, myelopathy and/or neuropathy, as well as adrenal insufficiency. Other disorders of the adrenal glands include hyperaldosteroidism, which may cause weakness from hypokalemia. Dysfunction of the adrenal medulla causes excessive or deficient secretion of catecholamines, primarily causing cardiovascular symptoms. This chapter reviews the clinical manifestations and diagnostic aspects and treatment of the various disorders of the adrenal glands. Some of the congenital adrenal diseases are also discussed.
Nizamie, S. Haque; Nizamie, Alka; Sangma, M.W.; Sharma, P.L.
SUMMARY The soft neurological signs (SNS) and minor physical anomalies (MPA) were studied in 107 adult schizophrenics. The sample consisted chronic (N=60) and acute (N=47) schizophrenic subtypes. The SNS were found more in chronic patients (p< .01). The most prevalent abnormalities in SNS were related to the sensory integration and motor co-ordination. The release reflexes were rare though they were encountered more in the chronic group. The mean MPA score in comparison to the reported scores in normal population was higher in the schizophrenic patients. The chronic schizophrenics had higher MPA score than the acute group though the difference was statistically not significant. The male acute schizophrenic patients had higher mean MPA score and more of SNS. There was positive correlation between MPA and SNS. The nature and etiological implication of these findings are discussed. PMID:21927390
Modern Western medicine was introduced into Japan by a Dutch doctor Pompe van Meerdervoort in 1855. A German physician EOE von Balz devoted himself to educating medicine at Tokyo Medical School, the predecessor of the present University of Tokyo for 25 years. Hiroshi Kawahara and Kinnosuke Miura, pioneers of Japan Neurology, received their education by him. Kawahara first described X-linked bulvo-spinal muscular atrophy, and published the first Japanese textbook of clinical neurology in 1897. In 1902, Miura and others founded the Japanese Society of Neuro-Psychiatry, the forerunner of the present " Japanese Society of Neurology ". Both Seizo Katsunuma, Professor of Nagoya University, and Junnjiro Kato, Professor of Tohoku University, succeeded Miura's neurology. Miura investigated into the cause of beriberi, but ended in failure. Hasegawa's proposal at the Diet in 1894 that the Japan Government should found an independent department of neurology in the University of Tokyo was unfortunately rejected. There was no foundation of independent institute, department and clinic of neurology before World War II. Consequently Japanese neurology was on the ebb at that time.
C. Miller Fisher MD, one of the great neurologists in the 20th century, died in April 2012. Born in Canada, he studied medicine at the University of Toronto. As a Canadian Navy medical doctor he participated in World War II and was a war prisoner from 1941 to 1944. He did a residency in neurology at the Montreal Neurological Institute between 1946 and 1948, and later on was a Fellow in Neurology and Neuropathology at the Boston City Hospital. In 1954 he entered the Massachusetts General Hospital as a neurologist and neuropathologist, where he remained until his retirement, in 2005. His academic career ended as Professor Emeritus at Harvard University. His area of special interest in neurology was cerebrovascular disease (CVD). In 1954 he created the first Vascular Neurology service in the world and trained many leading neurologists on this field. His scientific contributions are present in more than 250 publications, as journal articles and book chapters. Many of his articles, certainly not restricted to CVD, were seminal in neurology. Several concepts and terms that he coined are currently used in daily clinical practice. The chapters on CVD, in seven consecutive editions of Harrison's Internal Medicine textbook, are among his highlights. His death was deeply felt by the neurological community.
Bentivoglio, Marina; Mazzarello, Paolo
The chapter starts from the Renaissance (although the origins of Italian neurology can be traced back to the Middle Ages), when treatises of nervous system physiopathology still followed Hippocratic and Galenic "humoral" theories. In Italy, as elsewhere in Europe, the concepts of humoral pathology were abandoned in the 18th century, when neurology was influenced by novel trends. Neurology acquired the status of clinical discipline (as "clinic of mental diseases") after national reunification (declared in 1861 but completed much later). At the end of the 19th and first decades of the 20th century, eminent Italian "neuropsychiatrists" (including, among many others, Ugo Cerletti, who introduced electroconvulsive shock therapy in 1938) stimulated novel knowledge and approaches, "centers of excellence" flourished, and "Neurological Institutes" were founded. In the first half of the 20th century, the history of Italian neurology was dominated by World Wars I and II (which stimulated studies on the wounded) and the fascist regime in-between the Wars (when the flow of information was instead very limited). Italy became a republic in 1946, and modern neurology and its distinction from psychiatry were finally promoted. The chapter also provides detailed accounts of scientific societies and journals dedicated to the neurological sciences in Italy.
Galaburda, Albert M.
Dyslexia may represent the first example of a LD whereby a possible pathway may link the observed behavior to an underlying neurological substrate that has a neurodevelopmental history beginning with an abnormal gene. Similar efforts are being made to link other cognitive disorders of development to a molecular pathway involved in brain…
Kirshner, Howard S
This article discusses the evaluation of the capacity of a person to make informed decisions about financial matters, independent living, and informed consent for medical treatment and research. Determination of capacity is a function for which most physicians have little training. The determination of competency for a general medical patient may be assessed by a combination of a bedside mental status examination such as the MMSE and a questionnaire such as the Aid To Capacity Evaluation (ACE 1999). For patients with focal neurological deficits such as aphasia, further evaluation of specific cognitive and language functions is needed; Alexander (Arch Neurol 45:23-6, 1988) suggested 7 specific functions to be assessed. Finally, in dementing illnesses, evaluation by the MMSE and a questionnaire such as the CCTI, or Capacity to Consent to Treatment Instrument (Marson et al. Arch Neurol 52:949-54, 1995) is needed. Dementia includes several separate syndromes of neurodegenerative disease, and in many of these conditions, focal deficits such as aphasia may necessitate a more thorough neuropsychological evaluation.
Lueger, Robert J.; And Others
Examined neuropsychological and academic achievement correlates of statistically abnormal verbal-performance discrepancies on the Wechsler Intelligence Scale for Children (Revised). Results indicated that abnormal discrepancies reflect specific aphasia deficits rather than generalized neuropsychological dysfunction and that academic achievement…
Miller, D L; Ross, E M; Alderslade, R; Bellman, M H; Rawson, N S
The first 1000 cases notified to the National Childhood Encephalopathy Study were analysed. The diagnoses included encephalitis/encephalopathy, prolonged convulsions, infantile spasms, and Reye's syndrome. Eighty-eight of the children had had a recent infectious disease, including 19 with pertussis. Only 35 of the notified children (3.5%) had received pertussis antigen within seven days before becoming ill. Of 1955 control children matched for age, sex, and area of residence, 34 (1.7%) had been immunised with pertussis vaccine within the seven days before the date on which they became of the same age as the corresponding notified child. The relative risk of a notified child having had pertussis immunisation within that time interval was 2.4 (p less than 0.001). Of the 35 notified children, 32 had no previous neurological abnormality. A year later two had died, nine had developmental retardation, and 21 were normal. A significance association was shown between serious neurological illness and pertussis vaccine, though cases were few and most children recovered completely. PMID:6786580
Qureshi, Irfan A; Mehler, Mark F
The burgeoning field of epigenetics is making a significant impact on our understanding of brain evolution, development, and function. In fact, it is now clear that epigenetic mechanisms promote seminal neurobiological processes, ranging from neural stem cell maintenance and differentiation to learning and memory. At the molecular level, epigenetic mechanisms regulate the structure and activity of the genome in response to intracellular and environmental cues, including the deployment of cell type-specific gene networks and those underlying synaptic plasticity. Pharmacological and genetic manipulation of epigenetic factors can, in turn, induce remarkable changes in neural cell identity and cognitive and behavioral phenotypes. Not surprisingly, it is also becoming apparent that epigenetics is intimately involved in neurological disease pathogenesis. Herein, we highlight emerging paradigms for linking epigenetic machinery and processes with neurological disease states, including how (1) mutations in genes encoding epigenetic factors cause disease, (2) genetic variation in genes encoding epigenetic factors modify disease risk, (3) abnormalities in epigenetic factor expression, localization, or function are involved in disease pathophysiology, (4) epigenetic mechanisms regulate disease-associated genomic loci, gene products, and cellular pathways, and (5) differential epigenetic profiles are present in patient-derived central and peripheral tissues.
Lalonde, Robert; Fukuchi, Ken-ichiro; Strazielle, Catherine
The discovery of gene mutations underlying autosomal dominant Alzheimer’s disease has enabled researchers to reproduce several hallmarks of this disorder in transgenic mice, notably the formation of Aβ plaques in brain and cognitive deficits. APP transgenic mutants have also been investigated with respect to survival rates, neurologic functions, and motor coordination, which are all susceptible to alteration in Alzheimer dementia. Several transgenic lines expressing human mutated or wild-type APP had higher mortality rates than non-transgenic controls with or without the presence of Aβ plaques. Mortality rates were also elevated in APP transgenic mice with vascular amyloid accumulation, thereby implicating cerebrovascular factors in the precocious death observed in all APP transgenic models. In addition, myoclonic jumping has been described in APP mutants, together with seizure activity, abnormal limb-flexion and paw-clasping reflexes, and motor coordination deficits. The neurologic signs resemble the myoclonic movements, epileptic seizures, pathological reflexes, and gait problems observed in late-stage Alzheimer’s disease. PMID:23089603
Hely, M A; Williamson, P M; Terenty, T R
This study documents five patients with neurological disease associated with evidence of recent Mycoplasma pneumoniae infection. Four patients had encephalitis associated with coma. Two of these had hemiparesis (one with dysphasia), one had seizures, and one had cerebellar and brainstem involvement. Two also had evidence of a radiculopathy and peripheral neuropathy. One patient had aseptic meningitis with later transverse myelitis. Three patients had multiple sites of neurological involvement. Respiratory infections preceded the neurological syndromes in four cases. Antibiotic therapy did not appear to alter the course of the disease. All patients had a favourable outcome.
Washburn, Kevin E
As stated many times throughout this issue, localization of the origin of neurologic deficits in ruminants is paramount to successful diagnosis and prognosis. This article serves as a guide to answer 2 questions that should be asked when presented with a ruminant with neurologic dysfunction: is the lesion rostral or caudal to the foramen magnum, and does the animal have primary neurologic disease? The answers to these 2 broad questions begin the thought processes to more specifically describe the location and nature of the dysfunction. Challenges often facing the diagnostician include economic constraints, size of the animal, and unruly behavior.
Arun, Siddharth; Liu, Lei; Donmez, Gizem
Mitochondria are extremely active organelles that perform a variety of roles in the cell including energy production, regulation of calcium homeostasis, apoptosis, and population maintenance through fission and fusion. Mitochondrial dysfunction in the form of oxidative stress and mutations can contribute to the pathogenesis of various neurodegenerative diseases such as Parkinson’s (PD), Alzheimer’s (AD), and Huntington’s diseases (HD). Abnormalities of Complex I function in the electron transport chain have been implicated in some neurodegenerative diseases, inhibiting ATP production and generating reactive oxygen species that can cause major damage to mitochondria Mutations in both nuclear and mitochondrial DNA can contribute to neurodegenerative disease, although the pathogenesis of these conditions tends to focus on nuclear mutations. In PD, nuclear genome mutations in the PINK1 and parkin genes have been implicated in neurodegeneration , while mutations in APP, PSEN1 and PSEN2 have been implicated in a variety of clinical symptoms of AD . Mutant htt protein is known to cause HD . Much progress has been made to determine some causes of these neurodegenerative diseases, though permanent treatments have yet to be developed. In this review, we discuss the roles of mitochondrial dysfunction in the pathogenesis of these diseases. PMID:26903445
Thibert, Ronald L; Larson, Anna M; Hsieh, David T; Raby, Annabel R; Thiele, Elizabeth A
Angelman syndrome is a neurogenetic disorder characterized by the loss or reduction of the ubiquitin-protein ligase E3A enzyme. Angelman syndrome results from a deletion or mutation of the maternally inherited 15q11.2-13.1 region, paternal uniparental disomy of chromosome 15, or an imprinting error. Epilepsy is common and may present with multiple seizure types, including nonconvulsive status epilepticus. Seizures are often intractable and typically require broad-spectrum antiepileptic medications. Dietary therapy has also proved successful in Angelman syndrome. Electroencephalographic patterns include notched δ and rhythmic θ activity and epileptiform discharges. Sleep disorders are also common, often characterized by abnormal sleep-wake cycles. Movement disorders are nearly universal in Angelman syndrome, most frequently presenting with ataxia and tremor. Neurocognitive impairment is always present to varying degrees, and expressive speech is typically severely affected. Individuals with Angelman syndrome often manifest psychiatric comorbidities including hyperactivity, anxiety, and challenging behaviors such as aggression and self-injury. We focus on a comprehensive whole-child approach to the diagnosis and long-term clinical care of individuals with Angelman syndrome.
Perentos, Nicholas; Martins, Amadeu Q.; Watson, Thomas C.; Bartsch, Ullrich; Mitchell, Nadia L.; Palmer, David N.; Jones, Matthew W.
Creating valid mouse models of slowly progressing human neurological diseases is challenging, not least because the short lifespan of rodents confounds realistic modelling of disease time course. With their large brains and long lives, sheep offer significant advantages for translational studies of human disease. Here we used normal and CLN5 Batten disease affected sheep to demonstrate the use of the species for studying neurological function in a model of human disease. We show that electroencephalography can be used in sheep, and that longitudinal recordings spanning many months are possible. This is the first time such an electroencephalography study has been performed in sheep. We characterized sleep in sheep, quantifying characteristic vigilance states and neurophysiological hallmarks such as sleep spindles. Mild sleep abnormalities and abnormal epileptiform waveforms were found in the electroencephalographies of Batten disease affected sheep. These abnormalities resemble the epileptiform activity seen in children with Batten disease and demonstrate the translational relevance of both the technique and the model. Given that both spontaneous and engineered sheep models of human neurodegenerative diseases already exist, sheep constitute a powerful species in which longitudinal in vivo studies can be conducted. This will advance our understanding of normal brain function and improve our capacity for translational research into neurological disorders. PMID:25724202
Vertigo/dizziness and syncope are among the most frequent clinical entities encountered in neurology. In patients with presumed syncope, it is important to distinguish it from neurological and psychiatric diseases causing a transient loss of consciousness due to another etiology. Moreover, central nervous disorders of autonomic blood pressure regulation as well as affections of the peripheral autonomic nerves can be responsible for the onset of real syncope. This is particularly relevant in recurrent syncope. Vertigo occurs in the context of temporary disorders, relatively harmless diseases associated with chronic impairment, as well as in acute life-threatening states. Patient history and clinical examination play an important role in classifying these symptoms. It is of crucial importance in this context, e.g., to establish whether the patient is experiencing an initial manifestation or whether such episodes have been known to occur recurrently over a longer period of time, as well as how long the episodes last. Clinical investigations include a differential examination of the oculomotor system with particular regard to nystagmus. The present article outlines the main underlying neurological diseases associated with syncope and vertigo, their relevant differential diagnoses as well as practical approaches to their treatment.
White, D.M.; Longstreth, W.T. Jr.; Rosenstock, L.; Claypoole, K.H.; Brodkin, C.A.; Townes, B.D. )
This article expands on an earlier series of three patients with a neurologic syndrome, who had all worked in an aluminum smelting plant. Twenty-five symptomatic workers from the same plant were referred for a standardized evaluation, including completion of a health questionnaire, neurologic examination, and neuropsychologic evaluation. An exposure index was calculated for each worker based on level and duration of exposure in the potroom, where exposures were the greatest. This index was correlated with symptoms, signs, and neuropsychologic test scores. Twenty-two (88%) of the patients reported frequent loss of balance, and 21 (84%) reported memory loss. Neurologic examination revealed signs of incoordination in 21 (84%) of the patients. Neuropsychologic test results showed preservation in certain spheres of functioning, such as verbal IQ, with substantial impairment in others, particularly memory functioning. On memory tests, 70% to 75% showed mild or greater impairment. The majority (17 of 19 tested, or 89%) showed depression on the Minnesota Multiphasic Personality Inventory. The exposure index was significantly correlated with signs and symptoms of incoordination. This study and others in humans and animals support the existence of a syndrome characterized by incoordination, poor memory, impairment in abstract reasoning, and depression. Aluminum exposure in the potroom seems the most likely cause.
Hsia, Tain-Yen; Gruber, Peter J
Advances in cardiopulmonary bypass and surgical techniques have led to progress in the early repair of congenital heart defects in children. However, as increasing numbers survive their initial cardiac operation, an awareness is emerging that significant early and late neurologic morbidities continue to complicate otherwise successful operative repairs. Adverse neurologic outcomes after neonatal cardiac surgery are multifactorial and relate to both fixed and modifiable mechanisms. The purpose of this review is to (1) review mechanisms of brain injury after neonatal cardiopulmonary bypass, (2) examine risk factors, and (3) speculate on how investigations may improve our understanding of neurologic injury.
Yokochi, F; Nakamura, R; Narabayashi, H
Electromyographic reaction times of the left and the right finger extensor muscles in extension movement of the wrist were examined in 42 patients with Parkinson's disease, and 20 normal subjects. Compared to the normal subjects and the patients with neurological signs confined to the right side, the patients with neurological signs on the left side or on both sides showed slowing of reaction times regardless of the side of responding hand. The patients with asymmetry of bilateral neurological signs showed slower RTs on the more affected side.
Jeon, Hyojin; Ai, Jinglu; Sabri, Mohamed; Tariq, Asma; Shang, Xueyuan; Chen, Gang; Macdonald, R Loch
About 50% of humans with aneurysmal subarachnoid hemorrhage (SAH) die and many survivors have neurological and neurobehavioral dysfunction. Animal studies usually focused on cerebral vasospasm and sometimes neuronal injury. The difference in endpoints may contribute to lack of translation of treatments effective in animals to humans. We reviewed prior animal studies of SAH to determine what neurological and neurobehavioral endpoints had been used, whether they differentiated between appropriate controls and animals with SAH, whether treatment effects were reported and whether they correlated with vasospasm. Only a few studies in rats examined learning and memory. It is concluded that more studies are needed to fully characterize neurobehavioral performance in animals with SAH and assess effects of treatment. PMID:19706182
Wiles, C; Brown, P; Chapel, H; Guerrini, R; Hughes, R; Martin, T; McCrone, P; Newsom-Davis, J; Palace, J; Rees, J; Rose, M; Scolding, N; Webster, A
Treatment of neurological disorders with intravenous immunoglobulin (IVIg) is an increasing feature of our practice for an expanding range of indications. For some there is evidence of benefit from randomised controlled trials, whereas for others evidence is anecdotal. The relative rarity of some of the disorders means that good randomised control trials will be difficult to deliver. Meanwhile, the treatment is costly and pressure to "do something" in often distressing disorders considerable. This review follows a 1 day meeting of the authors in November 2000 and examines current evidence for the use of IVIg in neurological conditions and comments on mechanisms of action, delivery, safety and tolerability, and health economic issues. Evidence of efficacy has been classified into levels for healthcare interventions (tables 1 and 2). PMID:11909900
Yorifuji, Takashi; Kado, Yoko; Diez, Midory Higa; Kishikawa, Toshihiro; Sanada, Satoshi
In the 1950s, large-scale food poisoning caused by methylmercury was identified in Minamata, Japan. Although severe intrauterine exposure cases (ie, congenital Minamata disease patients) are well known, possible impacts of methylmercury exposure in utero among residents, which is likely at lower levels than in congenital Minamata disease patients, are rarely explored. In 2014, the authors examined neurological and neurocognitive functions among 18 exposed participants in Minamata, focusing on fine motor, visuospatial construction, and executive functions. More than half of the participants had some fine motor and coordination difficulties. In addition, several participants had lower performance for neurocognitive function tests (the Rey-Osterrieth Complex Figure test and Keio version of the Wisconsin card sorting test). These deficits imply diffuse brain damage. This study suggests possible neurological and neurocognitive impacts of prenatal exposure to methylmercury among exposed residents of Minamata.
Dop, Dalia; Gheonea, Cristian; Stănescu, Georgeta Ligia; Moroşanu, Aritina Elvira; Diaconu, Radu; Niculescu, Elena Carmen; Ognean, Maria Livia; Niculescu, Dragoş
Aspiration pneumonia is a frequent cause of morbidity and mortality in children with neurological deficits. We present the case of a 4-month-old infant from the Foster Care Center, with severe psychomotor retardation, blindness, and associated cardiac malformation, who was admitted to the Pediatrics Clinic of the Emergency County Hospital of Craiova, Romania, presenting aspiration pneumonia and moderate respiratory insufficiency. Under sustained, early instituted treatment, the evolution was towards death. The chest radiography and histopathological examination of the pulmonary tissue confirmed the diagnosis. The neurological impairment was not only a favoring factor for aspiration, through the deglutition disorders, but it was also an aggravating one, through the bacterial colonization of the lungs.
Anaya, Juan-Manuel; Ramirez-Santana, Carolina; Salgado-Castaneda, Ignacio; Chang, Christopher; Ansari, Aftab; Gershwin, M Eric
An increasing number of severe neurological complications associated with Zika virus (ZIKV), chiefly Guillain-Barré syndrome (GBS) and primary microcephaly, have led the World Health Organization to declare a global health emergency. Molecular mimicry between glycolipids and surface molecules of infectious agents explain most of the cases of GBS preceded by infection, while a direct toxicity of ZIKV on neural cells has been raised as the main mechanism by which ZIKV induces microcephaly. Gangliosides are crucial in brain development, and their expression correlates with neurogenesis, synaptogenesis, synaptic transmission, and cell proliferation. Targeting the autoimmune response to gangliosides may represent an underexploited opportunity to examine the increased incidence of neurological complications related to ZIKV infection.
Degos, Bertrand; Laforêt, Pascal; Jardel, Claude; Sedel, Frédéric; Jossay-Winter, Murielle; Romero, Norma B; Lyon-Caen, Olivier; Tourbah, Ayman
Recent experimental data underline the relationship between mitochondria and immune function. Clinical reports of patients presenting with mitochondrial dysfunction associated with dysimmune responses in the central nervous system reinforce this new concept. We describe the first case of a woman presenting with symptoms related to a novel compound heterozygous mutation of the mitochondrial polymerase γ (POLG) gene, associated with neurological events suggestive of a demyelinating process. Clinical examination revealed bilateral ptosis, progressive external ophthalmoplegia and axonal sensitive polyneuropathy suggestive of a mitochondrial disease. In line with this, muscle biopsy showed ragged red fibers, and sequencing of POLG revealed two heterozygous mutations. In addition, the patient exhibited relapsing neurological symptoms, and cerebral and spinal MRI mimicking multiple sclerosis. This patient stresses the relationship between mitochondrial dysfunction and inflammation. Recent studies suggest that targeting mitochondrial dysfunction could provide benefits in treating some inflammatory diseases.
Gillett, Grant; Franz, Elizabeth
The relation between morality and the brain is a topic usefully examined through the evolutionary neurology of John Hughlings-Jackson, who considered higher mental function to be progressively inclusive integration of sensori-motor processes. His view, based on careful observations of patients with neurological disorders, implies that moral reasoning involves integration and coordination of behaviour through a process of representation and re-representation encompassing broader and broader types of information sensitive to environmental contingencies. The relevant information is processed in diverse brain areas: superior temporal sulcus (STS), inferior parietal lobule (IPL), inferior frontal gyrus (IFG), dorsolateral prefrontal (DLPF) areas, as well as anterior temporal (AT) structures. Moral function can be regarded as maximally integrating emotion, social cognition, and other-regarding sensibilities using propositionally organised cognitive structures that map a shared world of human activity and relationships so that they take account of what in social and personal life counts as something.
Valls-Solé, J; Valldeoriola, F; Tolosa, E; Marti, M J
Spontaneous and voluntary eyelid motility is often abnormal in patients with progressive supranuclear palsy. In contrast, their eyelid reflex responses are relatively preserved, and only those generated by an acoustic startle have been found absent or severely reduced. We hypothesized that, because of their relevant brainstem pathology, patients with progressive supranuclear palsy might have other brainstem reflex abnormalities which, on detection, could help with their neurophysiological characterization. In this study, we examined facial reflex responses in 14 patients with progressive supranuclear palsy, 12 patients with multisystem atrophy, 10 patients with Parkinson's disease, six patients with corticobasal ganglionic degeneration, 11 patients with various non-parkinsonian neurological illnesses and 10 normal subjects. EMG activity was simultaneously recorded from the orbicularis oculi and mentalis muscles following electrical stimulation of the median nerve at the wrist. Mentalis responses were obtained in two normal subjects and in all patients except one with Parkinson's disease, one with progressive supranuclear palsy and one with corticobasal ganglionic degeneration; there were no differences between groups of subjects regarding latency or peak amplitude. Orbicularis oculi responses were always present in control subjects and patients who exhibited mentalis responses, with the significant exception of patients with progressive supranuclear palsy, in whom only the response of mentalis was obtained. Blink-reflex responses to supraorbital nerve electrical stimuli were present at a normal latency and amplitude in all patients. An abnormally enhanced blink-reflex excitability recovery curve to paired stimuli was found in a similar percentage of patients with progressive supranuclear palsy, multisystem atrophy and Parkinson's disease, but in only two patients with corticobasal ganglionic degeneration. Patients with progressive supranuclear palsy have a
Riccio, Cynthia A.; And Others
This article reviews various models in the neurological conceptualization of attention deficit disorder (ADD), with and without hyperactivity. It discusses neuroanatomical, neurochemical, and neurophysiological perspectives on ADD. (Author/DB)
Rahman, Maryam; Abbatematteo, Joseph; De Leo, Edward K; Kubilis, Paul S; Vaziri, Sasha; Bova, Frank; Sayour, Elias; Mitchell, Duane; Quinones-Hinojosa, Alfredo
OBJECTIVE An increased extent of resection (EOR) has been shown to improve overall survival of patients with glioblastoma (GBM) but has the potential for causing a new postoperative neurological deficit. To investigate the impact of surgical neurological morbidity on survival, the authors performed a retrospective analysis of the clinical data from patients with GBM to quantify the impact of a new neurological deficit on the survival benefit achieved with an increased EOR. METHODS The data from all GBM patients who underwent resection at the University of Florida from 2010 to 2015 with postoperative imaging within 72 hours of surgery were included in the study. Retrospective analysis was performed on clinical outcomes and tumor volumes determined on postoperative and follow-up imaging examinations. RESULTS Overall, 115 patients met the inclusion criteria for the study. Tumor volume at the time of presentation was a median of 59 cm(3) (enhanced on T1-weighted MRI scans). The mean EOR (± SD) was 94.2% ± 8.7% (range 59.9%-100%). Almost 30% of patients had a new postoperative neurological deficit, including motor weakness, sensory deficits, language difficulty, visual deficits, confusion, and ataxia. The neurological deficits had resolved in 41% of these patients on subsequent follow-up examinations. The median overall survival was 13.1 months (95% CI 10.9-15.2 months). Using a multipredictor Cox model, the authors observed that increased EOR was associated with improved survival except for patients with smaller tumor volumes (≤ 15 cm(3)). A residual volume of 2.5 cm(3) or less predicted a favorable overall survival. Developing a postoperative neurological deficit significantly affected survival (9.2 months compared with 14.7 months, p = 0.02), even if the neurological deficit had resolved by the first follow-up. However, there was a trend of improved survival among patients with resolution of a neurological deficit by the first follow-up compared with patients
Makranz, Chen; Qutteineh, Hiba; Bin, Hanna; Lustig, Yaniv; Gomori, John Moshe; Honig, Asaf; Bayya, Abed El-Raouf; Moses, Allon E.; Ben-Hur, Tamir; Averbuch, Diana; Eichel, Roni
Objective: To describe the clinical presentation and unique neurologic manifestations of sandfly viruses (SFVs) in the Jerusalem area. Methods: We identified all patients with acute seroconversion to SFV at the Hadassah-Hebrew University Medical Centers during the years 2008–2013 and retrospectively collected and analyzed the clinical and imaging data. Results: Nine patients (ranging from 1.5 to 85 years old) were identified. Presentation included acute neurologic disease, mostly with fever, change in consciousness and behavior, seizures, headache, meningitis, limb paresis, or myelitis. Eight patients had clinical signs of meningitis, meningoencephalitis, or encephalitis alone. Four patients had myelitis. MRI identified pathologic symmetrical changes in the basal ganglia, thalami, and other deep structures in 5 patients, and additional myelitis of the spine was noted on imaging in 3 patients. Seven patients had long-term follow-up: 4 completely recovered and 3 had remaining neurologic sequelae, among them 1 with permanent severe brain damage. Conclusion: Neurologic involvement associated with acute SFV infections is considered to be benign. However, in this series, all 9 patients presented with significant neurologic pathology associated with a unique finding of myelitis and symmetrical basal ganglia, thalami, or white matter involvement. Thus, acute SFV infection should be included in the differential diagnosis in febrile onset of neurologic manifestations and neuroradiologic changes. PMID:26767189
Hesdorffer, Dale C
Psychiatric disorders are common in many neurological disorders, including epilepsy, migraine, Alzheimer's disease, Parkinson's disease, essential tremor, and stroke. These comorbidities increase disease burden and may complicate the treatment of the combined disorders. Initial studies of the comorbidity of psychiatric and neurological disorders were cross-sectional, and time order of the associations was impossible to elucidate. More recent work has clarified time associations between psychiatric disorders and neurological disorders, particularly in epilepsy and stroke where epidemiological evidence suggests that there is a bidirectional relationship. This article takes an epidemiological approach to understanding these relationships and focuses mostly on epilepsy. Although, these relationships are understood in many neurological disorders, routine screening for psychiatric disorders in neurological disorders is infrequent, mostly due to the lack of partnerships between psychiatrists and neurologists and the paucity of neuropsychiatrists. Much more needs to be done to improve the detection and treatment of patients affected by neurological and psychiatric disorders. Understanding the scope of this overlap may inspire collaborations to improve the lives of people affected by both disorders.
Bilgin Topçuoğlu, Özgür; Kavas, Murat; Öztaş, Selahattin; Arınç, Sibel; Afşar, Gülgün; Saraç, Sema; Midi, İpek
Sarcoidosis is a multisystem granulomatous disease affecting nervous system in 5% to 10% of patients. Magnetic resonance imaging (MRI) is accepted as the most sensitive method for detecting neurosarcoidosis. However, the most common findings in MRI are the nonspecific white matter lesions, which may be unrelated to sarcoidosis and can occur because of hypertension, diabetes mellitus, smoking, and other inflammatory or infectious disorders, as well. Autopsy studies report more frequent neurological involvement than the ante mortem studies. The aim of this study is to assess electroencephalography (EEG) in sarcoidosis patients without neurological findings in order to display asymptomatic neurological dysfunction. We performed EEG on 30 sarcoidosis patients without diagnosis of neurosarcoidosis or prior neurological comorbidities. Fourteen patients (46.7%) showed intermittant focal and/or generalized slowings while awake and not mentally activated. Seven (50%) of these 14 patients with EEG slowings had nonspecific white matter changes while the other half showed EEG slowings in the absence of MRI changes. We conclude that EEG slowings, when normal variants (psychomotor variant, temporal theta of elderly, frontal theta waves) are eliminated, may be an indicator of dysfunction in brain activity even in the absence of MRI findings. Hence, EEG may contribute toward detecting asymptomatic neurological dysfunction or probable future neurological involvement in sarcoidosis patients.
Law, B.E.; Spencer, C.W.
Abnormal pressures, pressures above or below hydrostatic pressures, occur on all continents in a wide range of geological conditions. According to a survey of published literature on abnormal pressures, compaction disequilibrium and hydrocarbon generation are the two most commonly cited causes of abnormally high pressure in petroleum provinces. In young (Tertiary) deltaic sequences, compaction disequilibrium is the dominant cause of abnormal pressure. In older (pre-Tertiary) lithified rocks, hydrocarbon generation, aquathermal expansion, and tectonics are most often cited as the causes of abnormal pressure. The association of abnormal pressures with hydrocarbon accumulations is statistically significant. Within abnormally pressured reservoirs, empirical evidence indicates that the bulk of economically recoverable oil and gas occurs in reservoirs with pressure gradients less than 0.75 psi/ft (17.4 kPa/m) and there is very little production potential from reservoirs that exceed 0.85 psi/ft (19.6 kPa/m). Abnormally pressured rocks are also commonly associated with unconventional gas accumulations where the pressuring phase is gas of either a thermal or microbial origin. In underpressured, thermally mature rocks, the affected reservoirs have most often experienced a significant cooling history and probably evolved from an originally overpressured system.
Minemura, Masami; Tajiri, Kazuto; Shimizu, Yukihiro
Systemic abnormalities often occur in patients with liver disease. In particular, cardiopulmonary or renal diseases accompanied by advanced liver disease can be serious and may determine the quality of life and prognosis of patients. Therefore, both hepatologists and non-hepatologists should pay attention to such abnormalities in the management of patients with liver diseases. PMID:19554648
Giordano, Brian; Goldblatt, John
This article describes a case of an "abnormal band" of the lateral meniscus, extending from the posterior horn of the true lateral meniscus to its antero-mid portion, observed during arthroscopy in a 45-year-old white man of Bosnian descent. The periphery of the aberrant lateral meniscus was freely mobile, and not connected to the underlying true lateral meniscus. Preoperative physical examination findings were consistent with medial-sided meniscal pathology only; however, evidence of an anomalous lateral meniscus was seen with magnetic resonance imaging. This anatomical pattern is rare and has been reported in the literature only once, in a report of 2 Asian patients. This article illustrates an anatomical variant of the lateral meniscus in a non-Asian patient with a clinical presentation that has not been previously described. In addition to the case report, the article presents a comprehensive review of the existing body of literature on anomalous lateral meniscus patterns. We believe that the definitions of the types of aberrant meniscus can be clarified to establish improved accuracy in reporting.
Hoppenbrouwers, Sylco S.; De Jesus, Danilo R.; Sun, Yinming; Stirpe, Tania; Hofman, Dennis; McMaster, Jeff; Hughes, Ginny; Daskalakis, Zafiris J.; Schutter, Dennis J.L.G.
Background Psychopathic offenders inevitably violate interpersonal norms and frequently resort to aggressive and criminal behaviour. The affective and cognitive deficits underlying these behaviours have been linked to abnormalities in functional interhemispheric connectivity. However, direct neurophysiological evidence for dysfunctional connectivity in psychopathic offenders is lacking. Methods We used transcranial magnetic stimulation combined with electroencephalography to examine interhemispheric connectivity in the dorsolateral and motor cortex in a sample of psychopathic offenders and healthy controls. We also measured intracortical inhibition and facilitation over the left and right motor cortex to investigate the effects of local cortical processes on interhemispheric connectivity. Results We enrolled 17 psychopathic offenders and 14 controls in our study. Global abnormalities in right to left functional connectivity were observed in psychopathic offenders compared with controls. Furthermore, in contrast to controls, psychopathic offenders showed increased intracortical inhibition in the right, but not the left, hemisphere. Limitations The relatively small sample size limited the sensitivity to show that the abnormalities in interhemispheric connectivity were specifically related to the dorsolateral prefrontal cortex in psychopathic offenders. Conclusion To our knowledge, this study provides the first neurophysiological evidence for abnormal interhemispheric connectivity in psychopathic offenders and may further our understanding of the disruptive antisocial behaviour of these offenders. PMID:23937798
Babany, F; Hamdoun, S; Denys, P; Amarenco, G
Sexual disorders are common after neurological diseases. The reconstruction of sexuality is a major issue after neurologic disability. Why is this topic not covered in rehabilitation medicine except specialized service? The aim of this pilot study was to assess the perception of the healthcare professionals (HCPs) and to understand why this topic was not addressed. We conducted a pilot, observational, monocentric study from February to March 2016 in HCPs from a neurologic rehabilitation hospital unit.
Malow, Robert M; Dévieux, Jessy G; Stein, Judith A; Rosenberg, Rhonda; Lerner, Brenda G; Attonito, Jennifer; Villalba, Karina
The purpose of this study was to examine neurological impairment in combination with information-motivation-behavioral skills (IMB) variables. The study tests the role of IMB variables as mediators of antecedent variables of demographics, life stress, social support, and neurological impairment with outcome measures of HIV preventive and risk behaviors in a sample of HIV-positive, alcohol-using adults (n = 250) with a history of alcohol abuse/dependence. Neurological impairment was measured with the Color Trails Test (CTT). Average performance on the CTT by the sample was substantially worse than established norms. In a directional latent variable model, neurological impairment directly predicted lower transmission knowledge scores and poorer performance on an observational condom skills assessment. Greater neurological impairment was significantly associated with greater age. Future interventions geared toward HIV+ adults who use alcohol should take into consideration HIV-related and age-related neurological functioning which may impede the facilitation of safe sex behaviors.
The World Congress of Neurology (figure 1) theme "Neurology in a Globalizing World" acknowledges that science and increasingly medicine and neurology are becoming globalized. The best way to manage change is to shape it. It is becoming increasingly clear that brain diseases, particularly stroke and dementia, are projected to rise at a rate that could overwhelm our clinics and hospitals. Hence a new emphasis on prevention and the need to work across disciplines beyond our traditional roles. Neurologists are the guardians of the brain and need to take the lead role in advancing new approaches in stemming the tide of neurologic diseases.
Seo, Sun Young; Shim, Gyu Hong; Chey, Myoung Jae
Purpose This study aimed to identify prognostic factors of neurological outcomes, including developmental delay, cerebral palsy and epilepsy in late-preterm and term infants with perinatal asphyxia. Methods All late-preterm and term infants with perinatal asphyxia or hypoxic-ischemic insults who admitted the neonatal intensive care unit of Inje University Sanggye Paik Hospital between 2006 and 2014 and were followed up for at least 2 years were included in this retrospective study. Abnormal neurological outcomes were defined as cerebral palsy, developmental delay and epilepsy. Results Of the 114 infants with perinatal asphyxia, 31 were lost to follow-up. Of the remaining 83 infants, 10 died, 56 had normal outcomes, and 17 had abnormal outcomes: 14 epilepsy (82.4%), 13 cerebral palsy (76.5%), 16 developmental delay (94.1%). Abnormal outcomes were significantly more frequent in infants with later onset seizure, clinical seizure, poor electroencephalography (EEG) background activity, lower Apgar score at 1 and 5 minutes and abnormal brain imaging (P<0.05). Infants with and without epilepsy showed significant differences in EEG background activity, clinical and electrographic seizures on EEG, Apgar score at 5 minutes and brain imaging findings. Conclusion We should apply with long-term video EEG or amplitude integrated EEG in order to detect and management subtle clinical or electrographic seizures in neonates with perinatal asphyxia. Also, long-term, prospective studies with large number of patients are needed to evaluate more exact prognostic factors in neonates with perinatal asphyxia. PMID:27895691
Konold, Timm; Phelan, Laura J.; Cawthraw, Saira; Simmons, Marion M.; Chaplin, Melanie J.; González, Lorenzo
Scrapie is transmissible spongiform encephalopathy (TSE), which causes neurological signs in sheep, but confirmatory diagnosis is usually made postmortem on examination of the brain for TSE-associated markers like vacuolar changes and disease-associated prion protein (PrPSc). The objective of this study was to evaluate whether testing of brainstem auditory evoked potentials (BAEPs) at two different sound levels could aid in the clinical diagnosis of TSEs in sheep naturally or experimentally infected with different TSE strains [classical and atypical scrapie and bovine spongiform encephalopathy (BSE)] and whether any BAEP abnormalities were associated with TSE-associated markers in the auditory pathways. BAEPs were recorded from 141 clinically healthy sheep of different breeds and ages that tested negative for TSEs on postmortem tests to establish a reference range and to allow comparison with 30 sheep clinically affected or exposed to classical scrapie (CS) without disease confirmation (test group 1) and 182 clinically affected sheep with disease confirmation (test group 2). Abnormal BAEPs were found in 7 sheep (23%) of group 1 and 42 sheep (23%) of group 2. The proportion of sheep with abnormalities did not appear to be influenced by TSE strain or PrPSc gene polymorphisms. When the magnitude of TSE-associated markers in the auditory pathways was compared between a subset of 12 sheep with and 12 sheep without BAEP abnormalities in group 2, no significant differences in the total PrPSc or vacuolation scores in the auditory pathways could be found. However, the data suggested that there was a difference in the PrPSc scores depending on the TSE strain because PrPSc scores were significantly higher in sheep with BAEP abnormalities infected with classical and L-type BSE, but not with CS. The results indicated that BAEPs may be abnormal in sheep infected with TSEs but the test is not specific for TSEs and that neither vacuolation nor PrPSc accumulation appears to be
Sa Leitao, Davi; Mendonca, Dercio; Iyer, Harish; Kao, Cheng-Kai
Neurologic complications after roller coaster rides are uncommon but potentially catastrophic. Physicians should have a high index of suspicion and prompt appropriate investigation. A 22-year-old healthy African American man presented with a 2-day history of constant occipital headache associated with vertigo, nausea, vomiting, and ambulatory dysfunction. Physical examination showed gait ataxia, slight dysmetria, and vertical nystagmus. Magnetic resonance imaging (MRI) of the brain showed early subacute ischemic infarct in the right cerebellum in the distribution of the right posterior inferior cerebellar artery. Magnetic resonance angiography of the neck showed focal dissection of the right vertebral artery at C1 through C2 level. On subsequent questioning, the patient recollected riding a roller coaster 2 weeks before the onset of symptoms. Anticoagulation with heparin was started, and the patient was bridged to oral warfarin. After a 5-day uneventful hospital course, symptoms improved and patient was discharged on oral anticoagulation. Cervicocephalic arterial dissections after roller coaster rides are rarely described in literature. The acceleration and abrupt changes of direction might lead to indirect trauma that is applied to mobile portions of the cervicocephalic arteries leading to intimal tears. Magnetic resonance angiography combined with axial T1-weighted cervical MRI is preferred because it is a high-sensitive, noninvasive test. The rationale for the use of anticoagulants or antiplatelets in patients with cervicocephalic arterial dissection is to prevent early recurrence and infarction. However, a meta-analysis failed to show significant difference in the rates of disability or death between both groups. Therefore, the decision for medical treatment should be made in a case-by-case basis.
Ross, R J; Casson, I R; Siegel, O; Cole, M
Boxing is an endeavor that may have to be re-evaluated in the coming years as to whether it should be designated as a sport. It is the only "sport" in which victory is determined by the amount of physical damage done to the opponent. We have presented the largest number of professional and amateur boxers (58) evaluated by various modern diagnostic modalities and have unequivocally demonstrated the deleterious effects of boxing upon the brain. There have been few, if any, meaningful actions taken by the promoters of boxing to correct the conditions under which boxers are subjected to physical abuse. Recommendations regarding the creation of a National Board of Boxing to supervise this "sport" have not been heeded. Suggested safeguards for the boxer, including mandatory medical and boxing history records (passports), use of headgear and approved safe boxing gloves, avoiding blows to the head, improved boxing ring floors, mandatory neurologic examinations, and more competent physicians at ringsides making medical decisions, have essentially not been implemented. The suggestions that mandatory computed tomograms at various stages in a boxer's career be used to determine possible changes of atrophy have not been followed, even when the CT scans have been made available at no cost to the boxers. The effective use of neuropsychologic evaluation, even when offered at no cost, has also been denied. The established medical injuries due to boxing and the lack of any sustained and significant efforts on the part of organized boxing create an atmosphere that is conducive to following the call for the consideration of a ban of boxing.
MacIntyre, D J; Blackwood, D H R; Porteous, D J; Pickard, B S; Muir, W J
Linkage studies of mental illness have provided suggestive evidence of susceptibility loci over many broad chromosomal regions. Pinpointing causative gene mutations by conventional linkage strategies alone is problematic. The breakpoints of chromosomal abnormalities occurring in patients with mental illness may be more direct pointers to the relevant gene locus. Publications that describe patients where chromosomal abnormalities co-exist with mental illness are reviewed along with supporting evidence that this may amount to an association. Chromosomal abnormalities are considered to be of possible significance if (a) the abnormality is rare and there are independent reports of its coexistence with psychiatric illness, or (b) there is colocalisation of the abnormality with a region of suggestive linkage findings, or (c) there is an apparent cosegregation of the abnormality with psychiatric illness within the individual's family. Breakpoints have been described within many of the loci suggested by linkage studies and these findings support the hypothesis that shared susceptibility factors for schizophrenia and bipolar disorder may exist. If these abnormalities directly disrupt coding regions, then combining molecular genetic breakpoint cloning with bioinformatic sequence analysis may be a method of rapidly identifying candidate genes. Full karyotyping of individuals with psychotic illness especially where this coexists with mild learning disability, dysmorphism or a strong family history of mental disorder is encouraged.
The ability to analyze human sperm chromosome complements after penetration of zona pellucida-free hamster eggs provides the first opportunity to study the frequency and type of chromosomal abnormalities in human gametes. Two large-scale studies have provided information on normal men. We have studied 1,426 sperm complements from 45 normal men and found an abnormality rate of 8.9%. Brandriff et al. (5) found 8.1% abnormal complements in 909 sperm from 4 men. The distribution of numerical and structural abnormalities was markedly dissimilar in the 2 studies. The frequency of aneuploidy was 5% in our sample and only 1.6% in Brandriff's, perhaps reflecting individual variability among donors. The frequency of 24,YY sperm was low: 0/1,426 and 1/909. This suggests that the estimates of nondisjunction based on fluorescent Y body data (1% to 5%) are not accurate. We have also studied men at increased risk of sperm chromosomal abnormalities. The frequency of chromosomally unbalanced sperm in 6 men heterozygous for structural abnormalities varied dramatically: 77% for t11;22, 32% for t6;14, 19% for t5;18, 13% for t14;21, and 0% for inv 3 and 7. We have also studied 13 cancer patients before and after radiotherapy and demonstrated a significant dose-dependent increase of sperm chromosome abnormalities (numerical and structural) 36 months after radiation treatment.
Finsterer, Josef; Frank, Marlies
INTRODUCTION This study aimed to assess the kind of haematological abnormalities that are present in patients with mitochondrial disorders (MIDs) and the frequency of their occurrence. METHODS The blood cell counts of a cohort of patients with syndromic and non-syndromic MIDs were retrospectively reviewed. MIDs were classified as ‘definite’, ‘probable’ or ‘possible’ according to clinical presentation, instrumental findings, immunohistological findings on muscle biopsy, biochemical abnormalities of the respiratory chain and/or the results of genetic studies. Patients who had medical conditions other than MID that account for the haematological abnormalities were excluded. RESULTS A total of 46 patients (‘definite’ = 5; ‘probable’ = 9; ‘possible’ = 32) had haematological abnormalities attributable to MIDs. The most frequent haematological abnormality in patients with MIDs was anaemia. 27 patients had anaemia as their sole haematological problem. Anaemia was associated with thrombopenia (n = 4), thrombocytosis (n = 2), leucopenia (n = 2), and eosinophilia (n = 1). Anaemia was hypochromic and normocytic in 27 patients, hypochromic and microcytic in six patients, hyperchromic and macrocytic in two patients, and normochromic and microcytic in one patient. Among the 46 patients with a mitochondrial haematological abnormality, 78.3% had anaemia, 13.0% had thrombopenia, 8.7% had leucopenia and 8.7% had eosinophilia, alone or in combination with other haematological abnormalities. CONCLUSION MID should be considered if a patient’s abnormal blood cell counts (particularly those associated with anaemia, thrombopenia, leucopenia or eosinophilia) cannot be explained by established causes. Abnormal blood cell counts may be the sole manifestation of MID or a collateral feature of a multisystem problem. PMID:26243978
Joubert, Bastien; Honnorat, Jérôme
Paraneoplastic neurological syndromes and autoimmune encephalitides are immune neurological disorders occurring or not in association with a cancer. They are thought to be due to an autoimmune reaction against neuronal antigens ectopically expressed by the underlying tumour or by cross-reaction with an unknown infectious agent. In some instances, paraneoplastic neurological syndromes and autoimmune encephalitides are related to an antibody-induced dysfunction of ion channels, a situation that can be labelled as autoimmune channelopathies. Such functional alterations of ion channels are caused by the specific fixation of an autoantibody upon its target, implying that autoimmune channelopathies are usually highly responsive to immuno-modulatory treatments. Over the recent years, numerous autoantibodies corresponding to various neurological syndromes have been discovered and their mechanisms of action partially deciphered. Autoantibodies in neurological autoimmune channelopathies may target either directly ion channels or proteins associated to ion channels and induce channel dysfunction by various mechanisms generally leading to the reduction of synaptic expression of the considered channel. The discovery of those mechanisms of action has provided insights on the regulation of the synaptic expression of the altered channels as well as the putative roles of some of their functional subdomains. Interestingly, patients' autoantibodies themselves can be used as specific tools in order to study the functions of ion channels. This article is part of a Special Issue entitled: Membrane channels and transporters in cancers.
Arnold, Ria; Issar, Tushar; Krishnan, Arun V
Patients with chronic kidney disease (CKD) are frequently afflicted with neurological complications. These complications can potentially affect both the central and peripheral nervous systems. Common neurological complications in CKD include stroke, cognitive dysfunction, encephalopathy, peripheral and autonomic neuropathies. These conditions have significant impact not only on patient morbidity but also on mortality risk through a variety of mechanisms. Understanding the pathophysiological mechanisms of these conditions can provide insights into effective management strategies for neurological complications. This review describes clinical management of neurological complications in CKD with reference to the contributing physiological and pathological derangements. Stroke, cognitive dysfunction and dementia share several pathological mechanisms that may contribute to vascular impairment and neurodegeneration. Cognitive dysfunction and dementia may be differentiated from encephalopathy which has similar contributing factors but presents in an acute and rapidly progressive manner and may be accompanied by tremor and asterixis. Recent evidence suggests that dietary potassium restriction may be a useful preventative measure for peripheral neuropathy. Management of painful neuropathic symptoms can be achieved by pharmacological means with careful dosing and side effect considerations for reduced renal function. Patients with autonomic neuropathy may respond to sildenafil for impotence. Neurological complications often become clinically apparent at end-stage disease, however early detection and management of these conditions in mild CKD may reduce their impact at later stages. PMID:27867500
Gil Campoy, J A; González Oria, C; Fernández Recio, M; Gómez Aranda, F; Jurado Cobo, C M; Heras Pérez, J A
Headache is one of the most frequent reasons for consultation in our health centers, something which should not be surprising if we consider that is one of the most common symptoms experienced by the population. The main concern of the family physician and emergency physician is to reach a correct diagnosis by clinical history and a basic neurological examination and adapted to the time and means at its disposal. In case of diagnostic doubts or suspected secondary headache, the primary care physician or emergency medical have to refer the patient to be studied and/or treated for Neurology services, such referral shall be made with varying degrees of urgency depending on the presence, or not, of symptoms or signs of alarm. A working group consisting of Neurologists of Sociedad Andaluza de Neurología (SAN) to provide services in different hospitals in Andalucía and Family Physicians representatives of the Sociedad Andaluza de Medicina Familiar y Comunitaria (SAMFyC) and the Sociedad Española de Médicos de Atención Primaria (SEMERGEN Andalucía), has developed a Quick Guide headache, which addresses the more practical aspects for the diagnosis, treatment and monitoring of patients with headache. We show you in this paper, the chapter that deals the alarm criteria and referral.
Ruknuddeen, Mohammed Ishaq; Ramadoss, Rajaram; Rajajee, V.; Grzeskowiak, Luke E.; Rajagopalan, Ram E.
Background: Therapeutic hypothermia (TH) may improve neurological outcome in comatose patients following out of hospital cardiac arrest (OHCA). The reliability of clinical prediction of neurological outcome following TH remains unclear. In particular, there is very limited data on survival and predictors of neurological outcome following TH for OHCA from resource-constrained settings in general and South Asia in specific. Objective: The objective was to identify factors predicting unfavorable neurological outcome at hospital discharge in comatose survivors of OHCA treated with hypothermia. Design: Retrospective chart review. Setting: Urban 200-bed hospital in Chennai, India. Methods: Predictors of unfavorable neurological outcome (cerebral performance category score [3–5]) at hospital discharge were evaluated among patients admitted between January 2006 and December 2012 following OHCA treated with TH. Hypothermia was induced with cold intravenous saline bolus, ice packs and cold-water spray with bedside fan. Predictors of unfavorable neurological outcome were examined through multivariate exact logistic regression analysis. Results: A total of 121 patients were included with 106/121 (87%) experiencing the unfavorable neurological outcome. Independent predictors of unfavorable neurological outcome included: Status myoclonus <24 h (odds ratio [OR] 21.79, 95% confidence interval [CI] 2.89-Infinite), absent brainstem reflexes (OR 50.09, 6.55-Infinite), and motor response worse than flexion on day 3 (OR 99.41, 12.21-Infinite). All 3 variables had 100% specificity and positive predictive value. Conclusion: Status myoclonus within 24 h, absence of brainstem reflexes and motor response worse than flexion on day 3 reliably predict unfavorable neurological outcome in comatose patients with OHCA treated with TH. PMID:26195855
Brownell, Sara E.; Becker, Rachel A.; Steinman, Lawrence
Historically, small heat shock proteins (sHSPs) have been extensively studied in the context of being intracellular molecular chaperones. However, recent studies looking at the role of sHSPs in neurological diseases have demonstrated a near universal upregulation of certain sHSPs in damaged and diseased brains. Initially, it was thought that sHSPs are pathological in these disease states because they are found in the areas of damage. However, transgenic overexpression and exogenous administration of sHSPs in various experimental disease paradigms have shown just the contrary – that sHSPs are protective, not pathological. This review examines sHSPs in neurological diseases and highlights the potential for using these neuroprotective sHSPs as novel therapeutics. It first addresses the endogenous expression of sHSPs in a variety of neurological disorders. Although many studies have examined the expression of sHSPs in neurological diseases, there are no review articles summarizing these data. Furthermore, it focuses on recent studies that have investigated the therapeutic potential of sHSPs for neurological diseases. Finally, it will explain what we think is the function of endogenous sHSPs in neurological diseases. PMID:22566955
Ben-Hamouda, Nawfel; Taccone, Fabio S; Rossetti, Andrea O; Oddo, Mauro
Coma after cardiac arrest (CA) is an important cause of admission to the ICU. Prognosis of post-CA coma has significantly improved over the past decade, particularly because of aggressive postresuscitation care and the use of therapeutic targeted temperature management (TTM). TTM and sedatives used to maintain controlled cooling might delay neurologic reflexes and reduce the accuracy of clinical examination. In the early ICU phase, patients' good recovery may often be indistinguishable (based on neurologic examination alone) from patients who eventually will have a poor prognosis. Prognostication of post-CA coma, therefore, has evolved toward a multimodal approach that combines neurologic examination with EEG and evoked potentials. Blood biomarkers (eg, neuron-specific enolase [NSE] and soluble 100-β protein) are useful complements for coma prognostication; however, results vary among commercial laboratory assays, and applying one single cutoff level (eg, > 33 μg/L for NSE) for poor prognostication is not recommended. Neuroimaging, mainly diffusion MRI, is emerging as a promising tool for prognostication, but its precise role needs further study before it can be widely used. This multimodal approach might reduce false-positive rates of poor prognosis, thereby providing optimal prognostication of comatose CA survivors. The aim of this review is to summarize studies and the principal tools presently available for outcome prediction and to describe a practical approach to the multimodal prognostication of coma after CA, with a particular focus on neuromonitoring tools. We also propose an algorithm for the optimal use of such multimodal tools during the early ICU phase of post-CA coma.
Seller, M J
The technique of amniocentesis, by which an abnormal fetus can be detected in utero, has brought a technological advance in medical science but attendant medical and moral problems. Dr Seller describes those congenital disabilities which can be detected in the fetus before birth, for which the "remedy" is selective abortion. She then discusses the arguments for and against selective abortion, for the issue is not simple, even in the strictly genetic sense of attempting to ensure a population free of congenital abnormality.
The availability of high-throughput genome sequencing technologies is expected to revolutionize our understanding of not only hereditary neurological diseases but also sporadic neurological diseases. The molecular bases of sporadic diseases, particularly those of sporadic neurodegenerative diseases, largely remain unknown. As potential molecular bases, various mechanisms can be considered, which include those underlying apparently sporadic neurological diseases with low-penetrant mutations in the gene for hereditary diseases, sporadic diseases with de novo mutations, and sporadic diseases with variations in disease-susceptible genes. With unprecedentedly robust power, high-throughput genome sequencing technologies will enable us to explore all of these possibilities. These new technologies will soon be applied in clinical practice. It will be a new era of datacentric clinical practice.
Gaieski, David F; Nathan, Barnett R; O'Brien, Nicole F
Bacterial meningitis and viral encephalitis, particularly herpes simplex encephalitis, are severe neurological infections that, if not treated promptly and effectively, lead to poor neurological outcome or death. Because treatment is more effective if given early, the topic of meningitis and encephalitis was chosen as an Emergency Neurological Life Support protocol. This protocol provides a practical approach to recognition and urgent treatment of bacterial meningitis and encephalitis. Appropriate imaging, spinal fluid analysis, and early empiric treatment is discussed. Though uncommon in its full form, the typical clinical triad of headache, fever, and neck stiffness should alert the clinical practitioner to the possibility of a central nervous system infection. Early attention to the airway and maintaining normotension is crucial in treatment of these patients, as is rapid treatment with anti-infectives and, in some cases, corticosteroids.
Ullrich, Nicole J
Neurologic signs and symptoms are often the initial presenting features of a primary brain tumor and may also emerge during the course of therapy or as late effects of the tumor and its treatment. Variables that influence the development of such neurologic complications include the type, size, and location of the tumor, the patient's age at diagnosis, and the treatment modalities used. Heightened surveillance and improved neuroimaging modalities have been instrumental in detecting and addressing such complications, which are often not appreciated until many years after completion of therapy. As current brain tumor therapies are continually refined and newer targeted therapies are developed, it will be important for future cooperative group studies to include systematic assessments to determine the incidence of neurologic complications and to provide a framework for the development of novel strategies for prevention and intervention.
Ramirez-Bermudez, Jesus; Aguilar-Venegas, Luis C; Crail-Melendez, Daniel; Espinola-Nadurille, Mariana; Nente, Francisco; Mendez, Mario F
The authors describe the frequency and characteristics of Cotard syndrome among neurological and psychiatric inpatients at a tertiary referral center. All inpatients from the National Institute of Neurology of Mexico (March 2007-May 2009) requiring neuropsychiatric consultation were reviewed. Among 1,321 inpatient consultations, 63.7% had neurological disease and one (0.11%) had viral encephalitis and Cotard syndrome. Of inpatients, 36.2% had pure psychiatric disorders and three (0.62%) had Cotard syndrome, associated with psychotic depression, depersonalization, and penile retraction (koro syndrome). This review discusses potential mechanisms for Cotard syndrome, including the role of a perceptual-emotional dissociation in self-misattribution in the deliré des negations.
McGeachan, Alexander J; Mcdermott, Christopher J
Sialorrhoea is a common and problematic symptom that arises from a range of neurological conditions associated with bulbar or facial muscle dysfunction. Drooling can significantly affect quality of life due to both physical complications such as oral chapping, and psychological complications such as embarrassment and social isolation. Thicker, tenacious oral and pharyngeal secretions may result from the drying management approach to sialorrhoea. The management of sialorrhoea in neurological diseases depends on the underlying pathology and severity of symptoms. Interventions include anticholinergic drugs, salivary gland-targeted radiotherapy, salivary gland botulinum toxin and surgical approaches. The management of thick secretions involves mainly conservative measures such as pineapple juice as a lytic agent, cough assist, saline nebulisers and suctioning or mucolytic drugs like carbocisteine. Despite a current lack of evidence and variable practice, management of sialorrhoea should form a part of the multidisciplinary approach needed for long-term neurological conditions.
Patel, Sita Sharan; Tomar, Sunil; Sharma, Diksha; Mahindroo, Neeraj; Udayabanu, Malairaman
Sonic hedgehog (Shh) signaling influences neurogenesis and neural patterning during the development of central nervous system. Dysregulation of Shh signaling in brain leads to neurological disorders like autism spectrum disorder, depression, dementia, stroke, Parkinson's diseases, Huntington's disease, locomotor deficit, epilepsy, demyelinating disease, neuropathies as well as brain tumors. The synthesis, processing and transport of Shh ligand as well as the localization of its receptors and signal transduction in the central nervous system has been carefully reviewed. Further, we summarize the regulation of small molecule modulators of Shh pathway with potential in neurological disorders. In conclusion, further studies are warranted to demonstrate the potential of positive and negative regulators of the Shh pathway in neurological disorders.
Lin, Chia-Ching John; Deneen, Benjamin
The central nervous system (CNS) is comprised of numerous cell types that work in concert to facilitate proper function and homeostasis. Disruption of these carefully orchestrated networks results in neuronal dysfunction, manifesting itself in a variety of neurological disorders. While neuronal dysregulation is causative of symptoms manifest in the clinic, the etiology of these disorders is often more complex than simply a loss of neurons or intrinsic dysregulation of their function. In the adult brain, astrocytes comprise the most abundant cell type and play key roles in CNS physiology, therefore it stands to reason that dysregulation of normal astrocyte function contributes to the etiology and progression of varied neurological disorders. We review here some neurological disorders associated with an astrocyte factor and discuss how the related astrocyte dysfunction contributes to the etiology and/or progression of these disorders. PMID:24365571
Jayakumar, Arumugam R; Norenberg, Michael D
Glutamine synthetase (GS) is an ATP-dependent enzyme found in most species that synthesizes glutamine from glutamate and ammonia. In brain, GS is exclusively located in astrocytes where it serves to maintain the glutamate-glutamine cycle, as well as nitrogen metabolism. Changes in the activity of GS, as well as its gene expression, along with excitotoxicity, have been identified in a number of neurological conditions. The literature describing alterations in the activation and gene expression of GS, as well as its involvement in different neurological disorders, however, is incomplete. This review summarizes changes in GS gene expression/activity and its potential contribution to the pathogenesis of several neurological disorders, including hepatic encephalopathy, ischemia, epilepsy, Alzheimer's disease, amyotrophic lateral sclerosis, traumatic brain injury, Parkinson's disease, and astroglial neoplasms. This review also explores the possibility of targeting GS in the therapy of these conditions.
Casella, Giovanni; Tontini, Gian Eugenio; Bassotti, Gabrio; Pastorelli, Luca; Villanacci, Vincenzo; Spina, Luisa; Baldini, Vittorio; Vecchi, Maurizio
Extraintestinal manifestations occur in about one-third of patients living with inflammatory bowel disease (IBD) and may precede the onset of gastrointestinal symptoms by many years. Neurologic disorders associated with IBD are not frequent, being reported in 3% of patients, but they often represent an important cause of morbidity and a relevant diagnostic issue. In addition, the increasing use of immunosuppressant and biological therapies for IBD may also play a pivotal role in the development of neurological disorders of different type and pathogenesis. Hence, we provide a complete and profound review of the main features of neurological complications associated with IBD, with particular reference to those related to drugs and with a specific focus on their clinical presentation and possible pathophysiological mechanisms. PMID:25083051
Akdemir, Ümit Özgür; Atay Kapucu, Lütfiye Özlem
Nuclear medicine imaging can provide important complementary information in the management of pediatric patients with neurological diseases. Pre-surgical localization of the epileptogenic focus in medically refractory epilepsy patients is the most common indication for nuclear medicine imaging in pediatric neurology. In patients with temporal lobe epilepsy, nuclear medicine imaging is particularly useful when magnetic resonance imaging findings are normal or its findings are discordant with electroencephalogram findings. In pediatric patients with brain tumors, nuclear medicine imaging can be clinically helpful in the diagnosis, directing biopsy, planning therapy, differentiating tumor recurrence from post-treatment sequelae, and assessment of response to therapy. Among other neurological diseases in which nuclear medicine has proved to be useful are patients with head trauma, inflammatory-infectious diseases and hypoxic-ischemic encephalopathy. PMID:27299282
Voon, Valerie; Cavanna, Andrea E; Coburn, Kerry; Sampson, Shirlene; Reeve, Alya; LaFrance, W Curt
Much is known regarding the physical characteristics, comorbid symptoms, psychological makeup, and neuropsychological performance of patients with functional neurological disorders (FNDs)/conversion disorders. Gross neurostructural deficits do not account for the patients' deficits or symptoms. This review describes the literature focusing on potential neurobiological (i.e. functional neuroanatomic/neurophysiological) findings among individuals with FND, examining neuroimaging and neurophysiological studies of patients with the various forms of motor and sensory FND. In summary, neural networks and neurophysiologic mechanisms may mediate "functional" symptoms, reflecting neurobiological and intrapsychic processes.
Boes, Christopher J
In the late 1800s, Wilhelm Erb, Joseph Babinski, William Gowers, and others helped develop the neurologic examination as we know it today. Erb was one of the first to emphasize a detailed and systematic neurologic exam and was co-discoverer of the muscle stretch reflex, Gowers began studying the knee jerk shortly after it was described, and Babinski focused on finding reliable signs that could differentiate organic from hysterical paralysis. These physicians and others emphasized the bedside examination of reflexes, which have been an important part of the neurologic examination ever since. This review will focus on the history of the examination of the following muscle stretch and superficial/cutaneous reflexes: knee jerk, jaw jerk, deep abdominal reflexes, superficial abdominal reflexes, plantar reflex/Babinski sign, and palmomental reflex. The history of reflex grading will also be discussed.
Pope, Jennifer V.; Edlow, Jonathan A.
Approximately 5% of patients presenting to emergency departments have neurological symptoms. The most common symptoms or diagnoses include headache, dizziness, back pain, weakness, and seizure disorder. Little is known about the actual misdiagnosis of these patients, which can have disastrous consequences for both the patients and the physicians. This paper reviews the existing literature about the misdiagnosis of neurological emergencies and analyzes the reason behind the misdiagnosis by specific presenting complaint. Our goal is to help emergency physicians and other providers reduce diagnostic error, understand how these errors are made, and improve patient care. PMID:22888439
Tan, Lin; Jiang, Teng; Tan, Lan; Yu, Jin-Tai
Technological development has paved the way for accelerated genomic discovery and is bringing precision medicine into view. The goal of precision medicine is to deliver optimally targeted and timed interventions tailored to an individual's molecular drivers of disease. Neurological diseases are promisingly suited models for precision medicine because of the rapidly expanding genetic knowledge base, phenotypic classification, the development of biomarkers and the potential modifying treatments. Moving forward, it is crucial that through these integrated research platforms to provide analysis both for accurate personal genome analysis and gene and drug discovery. Here we describe our vision of how precision medicine can bring greater clarity to the clinical and biological complexity of neurological diseases.
Crossley, Kate M; Brew, Bruce J
In recent years, there have been great advances in therapies for human immunodeficiency virus (HIV) that have allowed suppression of the virus and its effects on the body. Despite this progress, neurological complications persist in HIV-infected individuals. In this review we consider the possible ways that HIV might cause neurotoxicity and neuroinflammation. We discuss the spectrum of neurological disorders caused by HIV and its treatment, with a particular focus on both HIV-associated neurocognitive disorders and peripheral neuropathies. Since there has been a shift to HIV being a chronic illness, we also review the increasing prevalence of cerebrovascular disease and neurodegenerative disorders.
Ng, Sze Yin; Kongg, Min Han; Yunus, Mohd Razif Mohamad
Paraneoplastic neurological disorder (PND) is a condition due to immune cross-reactivity between the tumour cells and the normal tissue, whereby the “onconeural” antibodies attack the normal host nervous system. It can present within weeks to months before or after the diagnosis of malignancies. Nasopharyngeal carcinoma is associated with paraneoplastic syndrome, for example, dermatomyositis, and rarely with a neurological disorder. We report on a case of nasopharyngeal carcinoma with probable PND. Otolaryngologists, oncologists and neurologists need to be aware of this condition in order to make an accurate diagnosis and to provide prompt treatment. PMID:28381934
Immune-mediated paraneoplastic neurologic disorders (PND) may affect any part of the nervous system, and can mimic many non-cancer associated disorders. The availability of diagnostic tests based on the presence of specific anti-neuronal antibodies facilitates diagnosis and can suggest treatment strategies. Once thought to be poorly responsive to therapies, it is now recognized that there is a subgroup of PND, mostly associated with antibodies to antigens on the neuronal cell surface that are highly treatment responsive. For all PND, identification and treatment of the underlying tumor is the most effective step in the potential control or stabilization of the neurological disorder. PMID:23264806
Pearce, J M S
Richard Bright was one of the famous triumvirate of Guy's Hospital physicians in the Victorian era. Remembered for his account of glomerulonephritis (Bright's disease) he also made many important and original contributions to medicine and neurology. These included his work on cortical epileptogenesis, descriptions of simple partial (Jacksonian) seizures, infantile convulsions, and a variety of nervous diseases. Most notable were his reports of neurological studies including papers on traumatic tetanus, syringomyelia, arteries of the brain, contractures of spinal origin, tumours of the base of the brain, and narcolepsy. His career and these contributions are outlined.
Valente, Enza Maria; Ferraris, Alessandro; Dallapiccola, Bruno
Paediatric neurological disorders encompass a large group of clinically heterogeneous diseases, of which some are known to have a genetic cause. Over the past few years, advances in nosological classifications and in strategies for molecular testing have substantially improved the diagnosis, genetic counselling, and clinical management of many patients, and have facilitated the possibility of prenatal diagnoses for future pregnancies. However, the increasing availability of genetic tests for paediatric neurological disorders is raising important questions with regard to the appropriateness, choice of protocols, interpretation of results, and ethical and social concerns of these services. In this Review, we discuss these topics and how these concerns affect genetic counselling.
Søgaard, Marie; Vedsted-Jakobsen, Agnete
Knowledge of consanguinity is relevant for employees in the Danish national health service, since about 7.5% of the Danish population has another ethnic background than Danish and the majority comes from cultures where consanguineous marriages are not unusual. In the literature it is found that consanguineous couples have a higher risk of having children with congenital malformations. The risk is increased by a factor 2 to 2 1/2. The average risk in Denmark is about 3%. Primarily, the autosomal recessive diseases are expressed in children with consanguineous parents. In order to advise and diagnose it is essential to clarify the consanguinity state. In case of pregnancy with consanguineous parents, we recommend: 1) Counselling to estimate the risk of foetal illness and information about possible examination possibilities. 2) An ultrasound scan at the gestational age of 11-14 weeks in order to measure nuchal translucency and an early malformation scan. 3) An ultrasound scan for malformations at the gestational age of 18-20 weeks. 4) An ultrasound scan especially in order to detect foetal heart malformations at the gestational age of 20-24 weeks.
Miura, You; Seto, Akira; Kanazawa, Minoru; Nagata, Makoto
Cerebral and cerebellar symptoms are frequently associated with Legionnaires' disease. However, corresponding brain lesions are difficult to demonstrate using either computed tomography (CT) or magnetic resonance imaging (MRI). We report here two patients with Legionella pneumophila pneumonia accompanied by prolonged neurologic symptoms. In contrast to brain CT and MRI, which failed to detect any abnormalities, single-photon emission computed tomography (SPECT) showed multiple sites of hypoperfusion within the brains of both patients. These cases suggest that vasculopathy, which is detectable by SPECT, might be one of the causes of neurologic symptoms in patients with Legionnaires' disease. PMID:27478660
Vandenberg, Justin M; George, Deanna R; O'Leary, Andrea J; Olson, Lindsay C; Strassburg, Kaitlyn R; Hollman, John H
Individuals with conversion disorder have neurologic symptoms that are not identified by an underlying organic cause. Often the symptoms manifest as gait disturbances. The modified gait abnormality rating scale (GARS-M) may be useful for quantifying gait abnormalities in these individuals. The purpose of this study was to examine the reliability, responsiveness and concurrent validity of GARS-M scores in individuals with conversion disorder. Data from 27 individuals who completed a rehabilitation program were included in this study. Pre- and post-intervention videos were obtained and walking speed was measured. Five examiners independently evaluated gait performance according to the GARS-M criteria. Inter- and intrarater reliability of GARS-M scores were estimated with intraclass correlation coefficients (ICCs). Responsiveness was estimated with the minimum detectable change (MDC). Pre- to post-treatment changes in GARS-M scores were analyzed with a dependent t-test. The correlation between GARS-M scores and walking speed was analyzed to assess concurrent validity. GARS-M scores were quantified with good-to-excellent inter- (ICC = 0.878) and intrarater reliability (ICC = 0.989). The MDC was 2 points. Mean GARS-M scores decreased from 7 ± 5 at baseline to 1 ± 2 at discharge (t26 = 7.411, p < 0.001) and 85% of patients improved beyond the MDC. Furthermore, GARS-M scores and walking speed measurements were moderately correlated (r = -0.582, p = 0.004), indicating that the GARS-M has acceptable concurrent validity. Our findings provide evidence that the GARS-M scores are reliable, valid and responsive for quantifying gait abnormalities in patients with conversion disorder. GARS-M scores provide objective measures upon which treatment effects can be assessed.
Shamina, N V
Abnormalities of plant meiotic division leading to abnormal meiotic products are summarized schematically in the paper. Causes of formation of monads, abnormal diads, triads, pentads, polyads, etc. have been observed in meiosis with both successive and simultaneous cytokinesis.
Kirk, John; Plumb, Jonnie; Mirakhur, Meenakshi; McQuaid, Stephen
Blood-brain barrier (BBB) hyperpermeability in multiple sclerosis (MS) is associated with lesion pathogenesis and has been linked to pathology in microvascular tight junctions (TJs). This study quantifies the uneven distribution of TJ pathology and its association with BBB leakage. Frozen sections from plaque and normal-appearing white matter (NAWM) in 14 cases were studied together with white matter from six neurological and five normal controls. Using single and double immunofluorescence and confocal microscopy, the TJ-associated protein zonula occludens-1 (ZO-1) was examined across lesion types and tissue categories, and in relation to fibrinogen leakage. Confocal image data sets were analysed for 2198 MS and 1062 control vessels. Significant differences in the incidence of TJ abnormalities were detected between the different lesion types in MS and between MS and control white matter. These were frequent in oil-red O (ORO)(+) active plaques, affecting 42% of vessel segments, but less frequent in ORO(-) inactive plaques (23%), NAWM (13%), and normal (3.7%) and neurological controls (8%). A similar pattern was found irrespective of the vessel size, supporting a causal role for diffusible inflammatory mediators. In both NAWM and inactive lesions, dual labelling showed that vessels with the most TJ abnormality also showed most fibrinogen leakage. This was even more pronounced in active lesions, where 41% of vessels in the highest grade for TJ alteration showed severe leakage. It is concluded that disruption of TJs in MS, affecting both paracellular and transcellular paths, contributes to BBB leakage. TJ abnormality and BBB leakage in inactive lesions suggests either failure of TJ repair or a continuing pathological process. In NAWM, it suggests either pre-lesional change or secondary damage. Clinically inapparent TJ pathology has prognostic implications and should be considered when planning disease-modifying therapy.
... page: //medlineplus.gov/ency/article/003340.htm Ear examination To use the sharing features on this page, ... ear References King EF, Couch ME. History, physical examination, and the preoperative evaluation. In: Flint PW, Haughey ...
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... 21 Food and Drugs 8 2013-04-01 2013-04-01 false Neurological endoscope. 882.1480 Section 882.1480 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED... ventricles of the brain. (b) Classification. Class II (performance standards)....
... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Neurological endoscope. 882.1480 Section 882.1480 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED... ventricles of the brain. (b) Classification. Class II (performance standards)....
... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Neurological endoscope. 882.1480 Section 882.1480 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED... ventricles of the brain. (b) Classification. Class II (performance standards)....
... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Neurological endoscope. 882.1480 Section 882.1480 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED... ventricles of the brain. (b) Classification. Class II (performance standards)....
Brooks, William H.; Bixby-Hammett, Doris M.
Risk of neurological injuries accompanies horseback riding, especially for children and adolescents. This article describes the mechanisms of craniospinal injuries and suggests measures to lessen risks. Measures include: identifying individuals who should not ride, developing criteria for resumption of riding after injury, developing protective…
Bulens, C; Meerwaldt, J D; van der Wildt, G J; Keemink, C J
We studied contrast sensitivity function in normal subjects and in three illustrative cases with various neurological disorders. This was done by measuring contrast sensitivity over a range of spatial frequencies for vertical sinewave grating stimuli. It is demonstrated that contrast sensitivity function can give information about visual function not obtainable by conventional test procedures.
DiPietro, Janet A.; Kivlighan, Katie T.; Costigan, Kathleen A.; Rubin, Suzanne E.; Shiffler, Dorothy E.; Henderson, Janice L.; Pillion, Joseph P.
Fetal neurobehavioral development was modeled longitudinally using data collected at weekly intervals from 24 to 38 weeks gestation in a sample of 112 healthy pregnancies. Predictive associations between 3 measures of fetal neurobehavioral functioning and their developmental trajectories to neurological maturation in the first weeks after birth…
Kingston, John; Katsaros, Jennifer; Vu, Yurika; Goodrich, Gregory L.
The wars in Afghanistan and Iraq have been notable for the high rates of traumatic brain injury (TBI) that have been incurred by the troops. Visual impairments often occur following TBI and present new challenges for rehabilitation. We describe a neurological vision rehabilitation therapy that addresses the unique needs of patients with vision…
The nervous system contains some of the body's most metabolically demanding cells that are highly dependent on ATP produced via mitochondrial oxidative phosphorylation. Thus, the neurological system is consistently involved in patients with mitochondrial disease. Symptoms differ depending on the part of the nervous system affected. Although almost…
Arauz-Góngora, A A; Souta-Meiriño, C A; Cotter-Lemus, L E; Guzmán-Rodríguez, C; Méndez-Domínguez, A
We review the neurologic complications of 131 episodes of infective endocarditis, and the influences of some factors that are considered risk factors at its presentation, like the presence of vegetations detected by echocardiography, type and location of involved valve, or bacterial culture. Neurologic complications occurred in 28 patients (21.4%), 4 of them were excluded because of the absence of neuroimaging studies. In 21 patients the underlying cardiac pathology was valve disease and in the remaining 3 patients was congenital heart disease. 11 patients had native valve endocarditis and 10 prosthetic valve endocarditis. The cultured bacteria were Streptococcus viridans in 8 cases and Staphylococcus aureus in 7. The most frequent complication was cerebrovascular with incidence of cerebral embolism, and intracerebral hemorrhage of 62.5% and 8.3% respectively. Echocardiographic evidence of vegetation was seen in 18 patients, and cerebral embolism were noted in 12. Death occurred in 29% of patients with neurologic complications and 27% without. Two of nine patients who underwent open-heat surgery died. We conclude that there is no difference in the incidence of neurologic complications between mitral and aortic valve groups, neither when comparing native and prosthetic valve groups. Open-heart surgery does not increase mortality in this group of patients.
Reclaiming Children and Youth, 2013
Those utilizing the Monarch Institute and its powerful website include educational and mental health professionals looking for training, or employers seeking qualified workers who happen to have neurological differences. Most are students and their parents who are worried and in pain because they have a problem. The young person is not progressing…
Dyall, S C; Michael-Titus, A T
The central nervous system is highly enriched in long-chain polyunsaturated fatty acid (PUFA) of the omega-6 and omega-3 series. The presence of these fatty acids as structural components of neuronal membranes influences cellular function both directly, through effects on membrane properties, and also by acting as a precursor pool for lipid-derived messengers. An adequate intake of omega-3 PUFA is essential for optimal visual function and neural development. Furthermore, there is increasing evidence that increased intake of the long-chain omega-3 PUFA, eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA), may confer benefits in a variety of psychiatric and neurological disorders, and in particular neurodegenerative conditions. However, the mechanisms underlying these beneficial effects are still poorly understood. Recent evidence also indicates that in addition to the positive effects seen in chronic neurodegenerative conditions, omega-3 PUFA may also have significant neuroprotective potential in acute neurological injury. Thus, these compounds offer an intriguing prospect as potentially new therapeutic approaches in both chronic and acute conditions. The purpose of this article is to review the current evidence of the neurological benefits of omega-3 PUFA, looking specifically at neurodegenerative conditions and acute neurological injury.
Lehman, R A; Fieger, H G
A patient with an arachnoid cyst of the posteriro fossa experienced repeated episodes of transient right upper extremity numbness and weakness. Review of the literature indicates that arachnoid cysts of the posterior fossa and spinal canal as well as extradural spinal cysts may present with symptoms of transient neurological deficit which often suggest the diagnosis of multiple sclerosis.
Despierres, Laura-Anne; Kaphan, Elsa; Attarian, Shahram; Cohen-Bacrie, Stephan; Pelletier, Jean; Pouget, Jean; Motte, Anne; Charrel, Rémi; Gerolami, René
We report meningitis with diffuse neuralgic pain or polyradiculoneuropathy associated with PCR-documented acute hepatitis E in 2 adults. These observations suggest that diagnostic testing for hepatitis E virus should be conducted for patients who have neurologic symptoms and liver cytolysis. PMID:21801637
Children with neurological impairments are prone to develop serious infection with anaerobic bacteria. The most common anaerobic infections are decubitus ulcers; gastrostomy site wound infections; pulmonary infections (aspiration pneumonia, lung abscesses, and tracheitis); and chronic suppurative otitis media. The unique microbiology of each of…
Pan, Fen; Wang, Jun-Yuan; Xu, Yi; Huang, Man-Li
Abstract Rationale: It is widely believed that structural abnormalities of the brain contribute to the pathophysiology of schizophrenia. The parietal lobe is a central hub of multisensory integration, and abnormities in this region might account for the clinical features of schizophrenia. However, few cases of parietal encephalomalacia associated with schizophrenia have been described. Patient concerns and Diagnoses: In this paper, we present a case of a 25-year-old schizophrenia patient with abnormal parietal encephalomalacia. The patient had poor nutrition and frequently had upper respiratory infections during childhood and adolescence. She showed severe schizophrenic symptoms such as visual hallucinations for 2 years. After examining all her possible medical conditions, we found that the patient had a lesion consistent with the diagnosis of encephalomalacia in her right parietal lobe and slight brain atrophy. Interventions: The patient was prescribed olanzapine (10 mg per day). Outcomes: Her symptoms significantly improved after antipsychotic treatment and were still well controlled 1 year later. Lessons: This case suggested that parietal encephalomalacia, which might be caused by inflammatory and infectious conditions in early life and be aggravated by undernutrition, might be implicated in the etiology of schizophrenia. PMID:28272261
Wyrobek, A J; Bruce, W R
The sperm of (C57BL X C3H)F1 mice were examined 1, 4, and 10 weeks after a subacute treatment with one of 25 chemicals at two or more dose levels. The fraction of sperm that were abnormal in shape was elevated above control values of 1.2-3.4% for methyl methanesulfonate, ethyl methanesulfonate, griseofulvin, benzo[a]pyrene, METEPA [tris(2-methyl-l-aziridinyl)phosphine oxide], THIO-TEPA [tris(l-aziridinyl)phosphine sulfide], mitomycin C, myleran, vinblastine sulphate, hydroxyurea, 3-methylcholanthrene, colchicine, actinomycin D, imuran, cyclophosphamide, 5-iododeoxyuridine, dichlorvos, aminopterin, and trimethylphosphate. Dimethylnitrosamine, urethane, DDT [1,1,1-trichloro-2,2-bis(p-chlorophenyl)ethane], 1,1-dimethylhydrazine, caffeine, and calcium cyclamate did not induce elevated levels of sperm abnormalities. The results suggest that sperm abnormalities might provide a rapid inexpensive mammalian screen for agents that lead to errors in the differentiation of spermatogenic stem cells in vivo and thus indicate agents which might prove to be mutagenic, teratogenic, or carcinogenic. Images PMID:1060122
Hernandez, Miguel; Berg, Andrew; Bhatia, Chandra
Spinal epidural abscesses are uncommon, but their incidence is increasing. They represent a collection of purulent material in the epidural space and most commonly occur in the lumbar spine, where they remain localised. Abscesses that affect all three spinal levels (holospinal or multiregional abscesses) are extremely rare, with only a few cases published in the literature. Epidural abscesses are particularly high risk infections as progressive neurological dysfunction can occur rapidly; early diagnosis and treatment is therefore essential to avoid long term neurological complications and reduce potential mortality. Given the uncommon nature of this condition, the treatment remains controversial with no definitive guidance on conservative versus surgical management. The literature mostly recommends surgical decompression along with intravenous antibiotics in patients with neurological abnormalities. We describe a case of a 77-year-old patient presenting with a delayed diagnosis of a multi-regional epidural abscess with associated upper motor neurone signs. The patient was successfully treated nonoperatively with a course of antibiotics resulting in complete radiological resolution of the abscess and full neurological recovery. PMID:26512341
Kaputu-Kalala-Malu, Célestin; Walker, Timothy D.; Ntumba-Tshitenge, Olga; Mafuta, Eric M.; Tugirimana, Pierrot L.; Misson, Jean P.
Objective: To determine the pattern, management, and outcome of headaches among patients treated at Outpatient Neurology Clinic. Methods: A retrospective study was conducted at the Out-Patient Neurology Clinic of the Butare University Teaching Hospital, University of Rwanda, Butare, Rwanda between February and May 2015. We extracted the demographic data, headache characteristics, and associated conditions, prior pain-relieving medication use, waiting time before consultation, the results of paraclinical investigations, final diagnosis according to the International Classification of Headache Disorders, management, and 3-month clinical outcome from the medical records of all patients who consulted for headache over 36-month period. Epi Data and Statistical package for Social sciences software version 21.0 (SPSS Inc, Chicago, IL, USA) software were used for data processing. Results: Headache disorders represent a quarter of all neurological consultations. Patients were predominantly female (67%) and young (78% <45 years old). One-third (34%) presented with chronic tension-type headache. Neuroimaging demonstrated an abnormality in a significant minority (14%). Amitriptyline was the most commonly used drug (60%) in management. Forty percent of those patients followed for 3 months did not experience any clinical improvement. Conclusion: Headache is among the most common medical complaints in the Outpatient Neurology Clinic, with a wide array of underlying diagnoses, and a significant yield on neuroimaging. A significant proportion of those suffering from headache disorders have poor short-term outcomes. Novel approaches, such as headache support groups and alternative pharmacological agents, should be investigated for these patients. PMID:27094526
Landgrave-Gómez, Jorge; Mercado-Gómez, Octavio; Guevara-Guzmán, Rosalinda
The role of epigenetic mechanisms in the function and homeostasis of the central nervous system (CNS) and its regulation in diseases is one of the most interesting processes of contemporary neuroscience. In the last decade, a growing body of literature suggests that long-term changes in gene transcription associated with CNS’s regulation and neurological disorders are mediated via modulation of chromatin structure. “Epigenetics”, introduced for the first time by Waddington in the early 1940s, has been traditionally referred to a variety of mechanisms that allow heritable changes in gene expression even in the absence of DNA mutation. However, new definitions acknowledge that many of these mechanisms used to perpetuate epigenetic traits in dividing cells are used by neurons to control a variety of functions dependent on gene expression. Indeed, in the recent years these mechanisms have shown their importance in the maintenance of a healthy CNS. Moreover, environmental inputs that have shown effects in CNS diseases, such as nutrition, that can modulate the concentration of a variety of metabolites such as acetyl-coenzyme A (acetyl-coA), nicotinamide adenine dinucleotide (NAD+) and beta hydroxybutyrate (β-HB), regulates some of these epigenetic modifications, linking in a precise way environment with gene expression. This manuscript will portray what is currently understood about the role of epigenetic mechanisms in the function and homeostasis of the CNS and their participation in a variety of neurological disorders. We will discuss how the machinery that controls these modifications plays an important role in processes involved in neurological disorders such as neurogenesis and cell growth. Moreover, we will discuss how environmental inputs modulate these modifications producing metabolic and physiological alterations that could exert beneficial effects on neurological diseases. Finally, we will highlight possible future directions in the field of epigenetics
Millichap, John J; Millichap, J Gordon
The founding period of child neurology occurred in 3 phases: 1) early individual contributory phase, 2) organized training phase, and 3) expansion phase. In the late 19th and early 20th centuries, individuals in pediatrics, neurology, and psychiatry established clinics and made important contributions to the literature on childhood epilepsy, cerebral palsy, and pediatric neurology. The latter half of the 20th century saw the organization of training programs in pediatric neurology, with fellowships supported by the NIH. This development was followed by a rapid expansion in the number of trainees certified in child neurology and their appointment to divisions of neurology in children's hospitals. In recent years, referrals of children with neurologic disorders have increased, and disorders previously managed by pediatricians are often seen in neurology clinics. The era of subspecialization is embraced by the practicing physician. The present day status of pediatric neurology and suggestions for the future development of the specialty are subjects for further discussion.
Yang, Kwang Ik; Kim, Hyung Ki; Baek, Jeehun; Kim, Doh-Eui; Park, Hyung Kook
Abnormal nocturnal behavior can have many causes, including primary sleep disorder, nocturnal seizures, and underlying medical or neurological disorders. A 79-year-old woman with type 2 diabetes was admitted for evaluation of abnormal nocturnal behavior. Every night at around 04:30 she was observed displaying abnormal behavior including leg shaking, fumbling with bedclothes, crawling around the room with her eyes closed, and non-responsiveness to verbal communication. Polysomnography with 20-channel electroencephalography (EEG) was performed. EEG showed that the posterior dominant rhythm was slower than that observed in the initial EEG, with diffuse theta and delta activities intermixed, and no epileptiform activity. The serum glucose level was 35 mg/dL at that time, and both the EEG findings and clinical symptoms were resolved after an intravenous injection of 50 mL of 50% glucose. These results indicate that nocturnal hypoglycemia should be considered as one of the possible etiologies in patients presenting with abnormal nocturnal behavior.
Proctor, C A
Fifty patients with unexplained vertigo (36) or lightheadedness (14) are evaluated, all of whom had abnormal ENGs and normal audiograms. Five hour insulin glucose tolerance tests were performance on all patients, with insulin levels being obtained fasting and at one-half, one, two, and three hours. The results of this investigation were remarkable. Borderline or abnormal insulin levels were discovered in 82% of patients; 90% were found to have either an abnormal glucose tolerance test or at least borderline insulin levels. The response to treatment in these dizzy patients was also startling, with appropriate low carbohydrate diets improving the patient's symptoms in 90% of cases. It is, therefore, apparent that the earliest identification of carbohydrate imbalance with an insulin glucose tolerance test is extremely important in the work-up of the dizzy patients.
Schulte-Frohlinde, Verena; Ashkenazy, Yosef; Goldberger, Ary L.; Ivanov, Plamen Ch; Costa, Madalena; Morley-Davies, Adrian; Stanley, H. Eugene; Glass, Leon
Individuals having frequent abnormal heartbeats interspersed with normal heartbeats may be at an increased risk of sudden cardiac death. However, mechanistic understanding of such cardiac arrhythmias is limited. We present a visual and qualitative method to display statistical properties of abnormal heartbeats. We introduce dynamical "heartprints" which reveal characteristic patterns in long clinical records encompassing approximately 10(5) heartbeats and may provide information about underlying mechanisms. We test if these dynamics can be reproduced by model simulations in which abnormal heartbeats are generated (i) randomly, (ii) at a fixed time interval following a preceding normal heartbeat, or (iii) by an independent oscillator that may or may not interact with the normal heartbeat. We compare the results of these three models and test their limitations to comprehensively simulate the statistical features of selected clinical records. This work introduces methods that can be used to test mathematical models of arrhythmogenesis and to develop a new understanding of underlying electrophysiologic mechanisms of cardiac arrhythmia.
Fu, Lina; Xu, Xiuling; Ren, Ruotong; Wu, Jun; Zhang, Weiqi; Yang, Jiping; Ren, Xiaoqing; Wang, Si; Zhao, Yang; Sun, Liang; Yu, Yang; Wang, Zhaoxia; Yang, Ze; Yuan, Yun; Qiao, Jie; Izpisua Belmonte, Juan Carlos; Qu, Jing; Liu, Guang-Hui
Xeroderma pigmentosum (XP) is a group of genetic disorders caused by mutations of XP-associated genes, resulting in impairment of DNA repair. XP patients frequently exhibit neurological degeneration, but the underlying mechanism is unknown, in part due to lack of proper disease models. Here, we generated patient-specific induced pluripotent stem cells (iPSCs) harboring mutations in five different XP genes including XPA, XPB, XPC, XPG, and XPV. These iPSCs were further differentiated to neural cells, and their susceptibility to DNA damage stress was investigated. Mutation of XPA in either neural stem cells (NSCs) or neurons resulted in severe DNA damage repair defects, and these neural cells with mutant XPA were hyper-sensitive to DNA damage-induced apoptosis. Thus, XP-mutant neural cells represent valuable tools to clarify the molecular mechanisms of neurological abnormalities in the XP patients.
Lucky, A W; Esterly, N B; Tunnessen, W W
Two unrelated children, a girl and a boy, with alopecia, anomalous cutaneous pigmentation, abnormal thumbs, and endocrine disorders, including short stature and delayed bone age in one patient and juvenile onset diabetes mellitus in the other, are described. In one instance, the mother and the maternal grandmother had similar abnormalities, although of a less severe nature. Both children had normal nails and no unusual susceptibility to infections. We believe these two patients represent a previously undescribed syndrome of ectodermal dysplasia that may be inherited as an autosomal-dominant trait.