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Sample records for normal neurological development

  1. Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency.

    PubMed

    Reigstad, Hallvard; Woldseth, Berit; Häberle, Johannes

    2017-03-09

    A girl born at term was admitted to the neonatal intensive care unit because of mild respiratory distress after a complicated delivery. She recovered, but was readmitted at 58 h of life with mild respiratory distress and increased muscle tone. Neonatal abstinence syndrome because of maternal use of lithium, clomipramine, and quetiapine during pregnancy was suspected, but at 115 h of life she became unresponsive, and an immediate work-up for coma was initiated. An ammonia of 2,235 μmol/l was found, and treatment with sodium benzoate, sodium phenylacetate, arginine, glucose, and N-carbamylglutamate (NCG, Carbaglu(®)) was started. This treatment normalized plasma ammonia levels within 16 h.Biochemical results suggested a mitochondrial urea cycle defect, either of N-acetyl glutamate synthase (NAGS) or carbamoyl phosphate synthetase 1. DNA analysis later confirmed a diagnosis of NAGS deficiency. Under long-term treatment with NCG, the patient developed normally at last follow-up at 7 months of age.In conclusion, the standard neonatal situation of a neurologically compromised newborn turned out as a treatable rare inborn error of metabolism. In all neonates with somnolence and coma and hence the suspicion of a bacterial sepsis, plasma ammonia should be included in the work-up. NCG was immediately beneficial for the patient described and should be considered for the emergency treatment of neonatal hyperammonemia. Even a very high ammonia may allow for a normal neurological development in infancy (and possibly beyond).

  2. Neurologically normal development of a patient with severe methionine adenosyltransferase I/III deficiency after continuing dietary methionine restriction.

    PubMed

    Hirabayashi, Koichi; Shiohara, Masaaki; Yamada, Kazuhiro; Sueki, Akane; Ide, Yuichiro; Takeuchi, Koichi; Hagimoto, Rokuro; Kinoshita, Tatsuya; Yabuhara, Akihiko; Mudd, S Harvey; Koike, Kenichi

    2013-11-01

    There is not much information on established standard therapy for patients with severe methionine adenosyltransferase (MAT) I/III deficiency. We report a boy with MAT I/III deficiency, in whom plasma methionine and total homocysteine, and urinary homocystine were elevated. Molecular genetic studies showed him to have novel compound heterozygous mutations of the MAT1A gene: c.191T>A (p.M64K) and c.589delC (p.P197LfsX26). A low methionine milk diet was started at 31 days of age, and during continuing dietary methionine restriction plasma methionine levels have been maintained at less than 750 μmol/L. He is now 5 years old, and has had entirely normal physical growth and psychomotor development. Although some severely MAT I/III deficient patients have developed neurologic abnormalities, we report here the case of a boy who has remained neurologically and otherwise normal for 5 years during methionine restriction, suggesting that perhaps such management, started in early infancy, may help prevent neurological complications. © 2013 Elsevier B.V. All rights reserved.

  3. Neurology in the developing world.

    PubMed

    Singhal, B S; Khadilkar, Satish V

    2014-01-01

    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. © 2014 Elsevier B.V. All rights reserved.

  4. Human Neurological Development: Past, Present and Future

    NASA Technical Reports Server (NTRS)

    Pelligra, R. (Editor)

    1978-01-01

    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.

  5. Practice guideline: Idiopathic normal pressure hydrocephalus: Response to shunting and predictors of response: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.

    PubMed

    Halperin, John J; Kurlan, Roger; Schwalb, Jason M; Cusimano, Michael D; Gronseth, Gary; Gloss, David

    2015-12-08

    We evaluated evidence for utility of shunting in idiopathic normal pressure hydrocephalus (iNPH) and for predictors of shunting effectiveness. We identified and classified relevant published studies according to 2004 and 2011 American Academy of Neurology methodology. Of 21 articles, we identified 3 Class I articles. Shunting is possibly effective in iNPH (96% chance subjective improvement, 83% chance improvement on timed walk test at 6 months) (3 Class III). Serious adverse event risk was 11% (1 Class III). Predictors of success included elevated Ro (1 Class I, multiple Class II), impaired cerebral blood flow reactivity to acetazolamide (by SPECT) (1 Class I), and positive response to either external lumbar drainage (1 Class III) or repeated lumbar punctures. Age may not be a prognostic factor (1 Class II). Data are insufficient to judge efficacy of radionuclide cisternography or aqueductal flow measurement by MRI. Clinicians may choose to offer shunting for subjective iNPH symptoms and gait (Level C). Because of significant adverse event risk, risks and benefits should be carefully weighed (Level B). Clinicians should inform patients with iNPH with elevated Ro and their families that they have an increased chance of responding to shunting compared with those without such elevation (Level B). Clinicians may counsel patients with iNPH and their families that (1) positive response to external lumbar drainage or to repeated lumbar punctures increases the chance of response to shunting, and (2) increasing age does not decrease the chance of shunting being successful (both Level C). © 2015 American Academy of Neurology.

  6. Secondary Myelitis in Dermal Sinus Causing Paraplegia in a Child with Previously Normal Neurological Function

    PubMed Central

    Rashid, Sakina; Kinabo, Grace; Kellogg, Marissa; Howlett, William P.

    2016-01-01

    Neural tube defects result from failure of neural tube fusion during early embryogenesis, the fourth week after conception. The spectrum of severity is not uniform across the various forms of this congenital anomaly as certain presentations are not compatible with extrauterine life (anencephaly) while, on the other hand, other defects may remain undiagnosed as they are entirely asymptomatic (occult spina bifida). We report a child with previously normal neurological development, a devastating clinical course following superinfection of a subtle spina bifida defect which resulted in a flaccid paralysis below the level of the lesion and permanent neurological deficits following resolution of the acute infection and a back closure surgery. PMID:28050293

  7. Clinical presentation of childhood neuroborreliosis; neurological examination may be normal.

    PubMed

    Broekhuijsen-van Henten, Dorien M; Braun, Kees P J; Wolfs, Tom F W

    2010-11-01

    Neuroborreliosis has its highest incidence in children and the older people. Signs and symptoms are different between the different age groups. The aim of this study was to describe the clinical spectrum of neuroborreliosis in children. The Dutch Paediatric Surveillance system registered cases of childhood neuroborreliosis during 2 years. All Dutch paediatric hospitals took part in this surveillance. Criteria for reporting cases were strictly defined. 89 cases of neuroborreliosis were reported; in 66 cases diagnosis was confirmed. Facial weakness was one of the presenting symptoms in 47 cases (71%) and the only symptom in nine children (14%). The five complaints most frequently reported were: malaise, headache, fatigue, fever and neck pain. 52 children (79%) had one or more objective neurological signs at presentation, of which facial nerve palsy, other cranial nerve abnormalities and meningeal signs were most frequent. 14 patients (21%), however, had no neurological signs at physical examination. In these patients, the number of subjective complaints was higher, and the time interval to diagnosis was longer compared with those with objective neurological abnormalities. In this study, 79% of paediatric neuroborreliosis patients presented with neurological signs, most often facial nerve palsy. 21% presented in an atypical way without neurological signs. A thorough neurological examination is essential once neuroborreliosis is considered in children. Even in the absence of neurological signs, neuroborreliosis may be suspected in children with typical antecedents and multiple symptoms. Cerebrospinal fluid investigations are then required to confirm the diagnosis.

  8. Overactive bladder symptoms and voiding dysfunction in neurologically normal women.

    PubMed

    Espuña-Pons, Montserrat; Cardozo, Linda; Chapple, Christopher; Sievert, Karl-Dietrich; van Kerrebroeck, Phillip; Kirby, Michael G

    2012-04-01

    To understand mechanisms underlying overactive bladder (OAB) and voiding dysfunction (VD) in neurologically normal women. Review of MEDLINE from (1982) to (2011) using defined search terms, and manual analysis. Only articles published in English were included. One in five women report moderate to severe lower urinary tract symptoms (LUTS). Whilst VD is more common in men, women report a higher rate of storage symptoms or post-micturition symptoms. Post-void residual (PVR) volume measurements are vital in the assessment of women with LUTS and patients with VD without stress incontinence (SUI) are likely to have an elevated PVR (82%). Bladder outlet obstruction (BOO) also causes VD in women and can be alleviated by surgery or alpha-blocker therapy, although OAB symptoms typically remain. Surgical repair for SUI can result in temporary VD in the minority of patients, highlighting the complex interplay that is emerging in the urethral bladder functioning complex in women. Women with impaired bladder emptying present with a wide range of LUTS, and PVR measurement is essential for diagnosis. OAB and VD can clearly coexist and accurate diagnosis of underlying pathophysiology is required. Recommendations for clinical practice and research are provided including: investigation of VD in women with OAB; evaluation of PVR values to determine appropriate therapy and identification of BOO. There is clearly a need for further research into the impact of alpha-blockers in women with VD as well as an evaluation of PVR changes in women with OAB before and after antimuscarinic therapy. Copyright © 2012 Wiley Periodicals, Inc.

  9. Hemimegalencephaly and normal intellectual development.

    PubMed Central

    Fusco, L; Ferracuti, S; Fariello, G; Manfredi, M; Vigevano, F

    1992-01-01

    Hemimegalencephaly is a rare congenital malformation characterised by overgrowth of one hemisphere. Although it is commonly thought to be associated with neurological deficits, developmental delay, and intractable epilepsy, the clinical expression of hemimegalencephaly, can vary widely. This patient was neurologically and neuropsychologically normal apart from rare partial seizures. Images PMID:1326602

  10. Assessing quality and normalization of microarrays: case studies using neurological genomic data.

    PubMed

    Hershey, A D; Burdine, D; Liu, C; Nick, T G; Gilbert, D L; Glauser, T A

    2008-07-01

    Genomic analysis using microarray tools has the potential benefit of enhancing our understanding of neurological diseases. The analysis of these data is complex due to the large amount of data generated. Many tools have been developed to assist with this, but standard methods of analysis of these tools have not been established. This study analyzed the sensitivity and specificity of different analytical methods for gene identification and presents a standardized approach. Affymetrix HG-U133 plus 2.0 microarray datasets from two neurological diseases - chronic migraine and new-onset epilepsy - were used as source data and methods of analysis for normalization of data and identification of gene changes were compared. Housekeeping genes were used to identify non-specific changes and gender related genes were used to identify specific changes. Initial normalization of data revealed that 5-10% of the microarray were potential outliers due to technical errors. Two separate methods of analysis (dChip and Bioconductor) identified the same microarray chips as outliers. For specificity and sensitivity testing, performing a per-gene normalization was found to be inferior to standard preprocessing procedures using robust multichip average analysis. Technical variation in microarray preprocessing may account for chip-to-chip and batch-to-batch variations and outliers need to be removed prior to analysis. Specificity and sensitivity of the final results are best achieved following this identification and removal with standard genomic analysis techniques. Future tools may benefit from the use of standard tools of measurement.

  11. Development of an oximeter for neurology

    NASA Astrophysics Data System (ADS)

    Aleinik, A.; Serikbekova, Z.; Zhukova, N.; Zhukova, I.; Nikitina, M.

    2016-06-01

    Cerebral desaturation can occur during surgery manipulation, whereas other parameters vary insignificantly. Prolonged intervals of cerebral anoxia can cause serious damage to the nervous system. Commonly used method for measurement of cerebral blood flow uses invasive catheters. Other techniques include single photon emission computed tomography (SPECT), positron emission tomography (PET), magnetic resonance imaging (MRI). Tomographic methods frequently use isotope administration, that may result in anaphylactic reactions to contrast media and associated nerve diseases. Moreover, the high cost and the need for continuous monitoring make it difficult to apply these techniques in clinical practice. Cerebral oximetry is a method for measuring oxygen saturation using infrared spectrometry. Moreover reflection pulse oximetry can detect sudden changes in sympathetic tone. For this purpose the reflectance pulse oximeter for use in neurology is developed. Reflectance oximeter has a definite advantage as it can be used to measure oxygen saturation in any part of the body. Preliminary results indicate that the device has a good resolution and high reliability. Modern applied schematics have improved device characteristics compared with existing ones.

  12. The Performance of Neurologically Impaired and Normal Ss on Four Screening Techniques.

    ERIC Educational Resources Information Center

    Moore, C. L.; Burns, William J.

    1979-01-01

    Normal and neurologically handicapped six year olds were administered the Peabody Picture Vocabulary Test--Form A, the Riley Preschool Developmental Screening Inventory-Designs, the Riley Make-a-Boy, and the McCarthy Scales of Children's Ability Designs. Significant differences were found between the two groups on all instruments. (Author/SJL)

  13. Neurological damage disrupts normal sex differences in psychophysiological responsiveness to music.

    PubMed

    Belfi, Amy M; Chen, Kuan-Hua; Schneider, Brett; Tranel, Daniel

    2016-01-01

    Men and women often display different physiological responses to emotional stimuli, and these responses can be affected by brain damage. Here, we investigated how brain damage differentially affects electrodermal responses based on sex. We studied neurologically normal, healthy adults and a sample of neurological patients. Participants listened to music, an emotional stimulus that reliably elicits skin conductance responses (SCRs). Electrodermal activity was recorded while participants listened to musical clips. When analyzing the data without regard to sex, there were no differences between healthy and brain-damaged participants in their SCRs. However, we found a significant interaction between brain injury status and sex. For men, brain damage significantly reduced SCRs. For women, there were no differences between brain-damaged participants and neurologically healthy participants. These findings illustrate the importance of including demographic variables, such as sex, when investigating brain-behavior relationships with a psychophysiological dependent variable. © 2015 Society for Psychophysiological Research.

  14. Normal growth and development

    MedlinePlus

    ... nutrition can cause problems with a child's intellectual development. A child with a poor diet may be tired and ... 4 years Developmental milestones record - 5 years Preschooler development School-age children development Puberty and adolescence

  15. Value of neuroimaging in the evaluation of neurologically normal children with recurrent headache.

    PubMed

    Alehan, Füsun Korkmaz

    2002-11-01

    Headache is one of the most frequent physical complaints in children. Although headaches in children are generally benign, neuroimaging studies are frequently performed in clinical practice for the fear of missing a serious underlying disease. Despite this, limited data exist about the utility of neuroimaging in recurrent headache of children with a normal neurologic examination. This prospective study was planned to determine the value of neuroimaging in neurologically normal children with migraine and tension-type headache. Among 95 consecutive patients presenting with headache, 72 patients receiving a diagnosis of migraine or tension-type headache were included in the study. Neuroimaging procedures were performed in 83%. Magnetic resonance imaging (MRI) was abnormal in 11 of 49 cases. Abnormalities consisted of foci of gliosis in four, sinusitis in two, pineal cyst in one, periventricular leukomalacia in one, arachnoid cyst in one, old traumatic changes in one, and cervical syrinx in one. Two of the 11 computed tomographic (CT) scans revealed sinus disease. The percentage of findings causally related to headache was about 10. None of the patients had undergone surgery because of neuroimaging results. In conclusion, the yield of neuroimaging in recurrent headaches of children with a normal neurologic examination is low, and neuroimaging should not be part of a routine initial examination of these patients.

  16. Retinal thinning is uniquely associated with medial temporal lobe atrophy in neurologically normal older adults.

    PubMed

    Casaletto, Kaitlin B; Ward, Michael E; Baker, Nicholas S; Bettcher, Brianne M; Gelfand, Jeffrey M; Li, Yaqiao; Chen, Robert; Dutt, Shubir; Miller, Bruce; Kramer, Joel H; Green, Ari J

    2017-03-01

    Given the converging pathologic and epidemiologic data indicating a relationship between retinal integrity and neurodegeneration, including Alzheimer's disease (AD), we aimed to determine if retinal structure correlates with medial temporal lobe (MTL) structure and function in neurologically normal older adults. Spectral-domain optical coherence tomography, verbal and visual memory testing, and 3T-magnetic resonance imaging of the brain were performed in 79 neurologically normal adults enrolled in a healthy aging cohort study. Retinal nerve fiber thinning and reduced total macular and macular ganglion cell volumes were each associated with smaller MTL volumes (ps < 0.04). Notably, these markers of retinal structure were not associated with primary motor cortex or basal ganglia volumes (regions relatively unaffected in AD) (ps > 0.70), or frontal, precuneus, or temporoparietal volumes (regions affected in later AD Braak staging ps > 0.20). Retinal structure was not significantly associated with verbal or visual memory consolidation performances (ps > 0.14). Retinal structure was associated with MTL volumes, but not memory performances, in otherwise neurologically normal older adults. Given that MTL atrophy is a neuropathological hallmark of AD, retinal integrity may be an early marker of ongoing AD-related brain health.

  17. Magnetic resonance imaging findings in epileptic cats with a normal interictal neurological examination: 188 cases.

    PubMed

    Raimondi, F; Shihab, N; Gutierrez-Quintana, R; Smith, A; Trevail, R; Sanchez-Masian, D; Smith, P M

    2017-06-24

    Epilepsy is a common neurological condition in dogs and cats. Although an increased likelihood of significant brain lesions with age has been identified in neurologically normal dogs with epileptic seizures, the underlying aetiology of epileptic seizures in cats that present with normal physical and neurological examinations remains unknown. In this cross-sectional study, the authors examined MRI findings in a large population of cats with a normal interictal physical and neurological examination. They hypothesised that age would have an impact on the prevalence of detectable lesions. First, following the guidelines for dogs and in accordance with previous studies, the authors divided the cats into three age groups (aged one year or younger, between one and six, and older than six) and calculated the proportion of cats with a detectable lesion on MRI in these groups. In the first group, 3/32 cats (9.4 per cent) had significant MRI abnormalities that were all consistent with congenital malformation; in the second group, only 5/92 (5.4 per cent) MRI scans were abnormal and in the third group, 15/ 65 (23.1 per cent) cats showed abnormal findings that were predominantly lesions of neoplastic origin. Second, to investigate the impact of age further, data were investigated as a continuous variable using receiver operating characteristic analysis. This indicated an optimal cut-off age of five years, above which MRI abnormalities were more likely, with an increase in the odds of a significant structural lesion increasing by 14 per cent per year. British Veterinary Association.

  18. [Course and neurological/behavioral development of preterm children].

    PubMed

    Marret, S; Chollat, C; de Quelen, R; Pinto Cardoso, G; Abily-Donval, L; Chadie, A; Torre, S; Vanhulle, C; Mellier, D; Charollais, A; Ancel, P-Y

    2015-02-01

    Preterm birth remains a public health priority given that one child out of ten is born before 37 weeks of gestation. Survival without major neonatal morbidity has increased in high-income countries, in particular in France and in cases of extreme preterm birth before 27 weeks of gestation. Rate of severe handicaps, such as cerebral palsy, is probably decreasing, but specific cognitive disabilities in a variety of domains remain frequent, interfering with normal learning abilities at school and explaining the high rate of special education needs. Prevalence of sequelae increases when gestational age at birth decreases. However, because there are more moderate to late preterm children compared to very preterm children, the absolute number of children with specific cognitive or neurological disabilities is equivalent in these two groups. Better characterization of the development in a recent cohort of very preterm children is necessary to improve the early detection of variations in normal neurodevelopment and to propose trials with remediation actions targeting working memory and language for example. These protocols could decrease the rates of learning disabilities at school. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  19. Effects of geohelminth infections on neurological development.

    PubMed

    Kvalsvig, Jane; Albonico, Marco

    2013-01-01

    Published reviews vary on the question of whether geohelminth infections affect cognitive development: some claim that the scarcity of evidence means that it is unlikely that they do; others present modest evidence for an effect; and others raise the possibility that the damage is considerable but largely unresearched. This chapter reviews the characteristics of the geohelminths themselves and the pathways by which they could affect the development of children in endemic areas. It describes the progress made in the last decade in conceptualizing children's brains as complex adaptive systems, with the suggestion that infections at different stages in brain development might have different neurobehavioral consequences. An examination of research reports and review articles highlights the difficulties inherent in assessing the effects of geohelminth infections: other serious obstacles to healthy development in the same population may mask the effects of the geohelminths, and consequently the intensity and pathogenicity of the infection is probably an important issue. Selecting cognitive measures suitable for assessing development in very young children is no simple matter, and careful statistical analysis is required to tease out the primary and secondary factors at work. The insights gained from a broad range of relevant research reports have placed us in a better position to conduct more telling research into the effects of these widespread, but neglected, tropical diseases.

  20. Regional cerebral blood flow and anxiety: a correlation study in neurologically normal patients

    SciTech Connect

    Rodriguez, G.; Cogorno, P.; Gris, A.; Marenco, S.; Mesiti, C.; Nobili, F.; Rosadini, G.

    1989-06-01

    Regional CBF (rCBF) was evaluated by the /sup 133/Xe inhalation method in 60 neurologically normal patients (30 men and 30 women) and hemispheric and regional values were correlated with anxiety measurements collected by a self-rating questionnaire before and after the examination. Statistically significant negative correlations between rCBF and anxiety measures were found. rCBF reduction for high anxiety levels is in line with results previously reported by others and could be related to lower performance levels for moderately high anxiety scores as those reported in the present population. This could perhaps be explained by rearrangement of flow from cortical zones to deeper areas of the brain, classically known to be implicated in the control of emotions. However, these results should be interpreted cautiously, since they were obtained in patients and not in normal subjects.

  1. Clinical NMR imaging of the brain in children: normal and neurologic disease

    SciTech Connect

    Johnson, M.A,; Pennock, J.M.; Bydder, G.M.; Steiner, R.E.; Thomas, D.J.; Hayward, R.; Bryant, D.R.T.; Payne, J.A.; Levene, M.I.; Whitelaw, A.; Dubowitz, L.M.S.; Dubowitz, V.

    1983-11-01

    The results of initial clinical nuclear magnetic resonance imaging of the brain in eight normal and 52 children with a wide variety of neurologic diseases were reviewed. The high level of gray-white matter contrast available with inversion-recovery sequences provided a basis for visualizing normal myelination as well as delays or deficits in this process. The appearances seen in cases of parenchymal hemorrhage, cerebral infarction, and proencephalic cysts are described. Ventricular enlargement was readily identified and marginal edema was demonstrated with spin-echo sequences. Abnormalities were seen in cerebral palsy, congenital malformations, Hallervorden-Spatz disease, aminoaciduria, and meningitis. Space-occupying lesions were identified by virtue of their increased relaxation times and mass effects. Nuclear magnetic resonance imaging has considerable potential in pediatric neuroradiologic practice, in some conditions supplying information not available by computed tomography or sonography.

  2. Association of Mild Kidney Dysfunction with Silent Brain Lesions in Neurologically Normal Subjects

    PubMed Central

    Toyoda, Genya; Bokura, Hirokazu; Mitaki, Shingo; Onoda, Keiichi; Oguro, Hiroaki; Nagai, Atsushi; Yamaguchi, Shuhei

    2015-01-01

    Background Chronic kidney disease (CKD) has been closely associated with stroke. Although a large number of studies reported the relationship between CKD and different types of asymptomatic brain lesions, few comprehensive analyses have been performed for all types of silent brain lesions. Methods We performed a cross-sectional study involving 1,937 neurologically normal subjects (mean age 59.4 years). Mild CKD was defined as an estimated glomerular filtration rate between 30 and 60 ml/min/1.73 m2 or positive proteinuria. Results The prevalence of mild CKD was 8.7%. Univariate analysis revealed an association between CKD and all silent brain lesions, including silent brain infarction, periventricular hyperintensity, subcortical white matter lesion, and microbleeds, in addition to hypertension and diabetes mellitus after adjusting for age and sex. In binary logistic regression analysis, the presence of CKD was a significant risk factor for all types of silent brain lesions, independent of other risk factors. Conclusions These results suggest that mild CKD is independently associated with all types of silent brain lesions, even in neurologically normal subjects. PMID:25873927

  3. Notch: From Neural Development to Neurological Disorders

    PubMed Central

    Lathia, Justin D.; Mattson, Mark P.; Cheng, Aiwu

    2015-01-01

    Notch is an integral membrane protein that functions as receptor for ligands such as jagged and delta that are associated with the surface of neighboring cells. Upon ligand binding, notch is proteolytically cleaved within its transmembrane domain by presenilin-1 (the enzymatic component of the γ-secretase complex) resulting in the release of a notch intracellular domain (NICD) which translocates to the nucleus where it regulates gene expression. Notch signaling plays multiple roles in the development of the central nervous system (CNS) including regulating neural stem cell (NSC) proliferation, survival, self-renewal and differentiation. Notch is also present in postmitotic neurons in the adult CNS wherein its activation influences structural and functional plasticity including processes involved in learning and memory. Recent findings suggest that notch signaling in neurons, glia and NSCs may be involved in pathological changes that occur in disorders such as stroke, Alzheimer’s disease and CNS tumors. Studies of animal models suggest the potential of agents that target notch signaling as therapeutic interventions for several different CNS disorders. PMID:19094054

  4. Direct withdrawal of a knife lodged in the thoracic spinal canal in a patient with normal neurologic examination: is it safe?

    PubMed

    Sakar, Mustafa; Dogrul, Ramazan; Niftaliyev, Seymur; Bayri, Yasar; Dagcınar, Adnan

    2016-01-01

    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.

  5. Effects of iatrogenic blood contamination on results of cerebrospinal fluid analysis in clinically normal dogs and dogs with neurologic disease.

    PubMed

    Hurtt, A E; Smith, M O

    1997-10-01

    To examine the effects that iatrogenic blood contamination would have on total protein concentration and nucleated cell count in CSF from clinically normal dogs and dogs with neurologic disease. Case-control study. 53 dogs confirmed to have neurologic disease and 21 clinically normal dogs. CSF samples were obtained from the cerebellomedullary cistern or the lumbar portion of the subarachnoid space. Red blood and nucleated cell counts were determined, and protein concentration was measured. RBC count was not significantly correlated with nucleated cell count or protein concentration in clinically normal dogs or dogs with neurologic disease. High CSF nucleated cell counts and protein concentrations are indicative of neurologic disease, even if samples contain moderate amounts of blood contamination.

  6. α-Synuclein in the colon and premotor markers of Parkinson disease in neurologically normal subjects.

    PubMed

    Kim, Joong-Seok; Park, In-Seok; Park, Hyung-Eun; Kim, Su-Young; Yun, Jung A; Jung, Chan Kwon; Sung, Hye-Young; Lee, Jin-Kwon; Kang, Won-Kyung

    2017-01-01

    Extranigral non-motor signs precede the first motor manifestations of Parkinson's disease by many years in some patients. The presence of α-synuclein deposition within colon tissues in patients with Parkinson's disease can aid in identifying early neuropathological changes prior to disease onset. In the present study, we evaluated the roles of non-motor symptoms and signs and imaging biomarkers of nigral neuronal changes and α-synuclein accumulation in the colon. Twelve subjects undergoing colectomy for primary colon cancer were recruited for this study. Immunohistochemical staining for α-synuclein in normal and phosphorylated forms was performed in normally appearing colonic tissue. We evaluated 16 candidate premotor risk factors in this study cohort. Among them, ten subjects showed positive immunostaining with normal- and phosphorylated-α-synuclein. An accumulation of premotor markers in each subject was accompanied with positive normal- and phosphorylated-α-synuclein immunostaining, ranging from 2 to 7 markers per subject, whereas the absence of Lewy bodies in the colon was associated with relative low numbers of premotor signs. A principal component analysis and a cluster analysis of these premotor markers suggest that urinary symptoms were commonly clustered with deposition of peripheral phosphorylated-α-synuclein. Among other premotor marker, color vision abnormalities were related to non-smoking. This mathematical approach confirmed the clustering of premotor markers in preclinical stage of Parkinson's disease. This is the first report showing that α-synuclein in the colon and other premotor markers are related to each other in neurologically normal subjects.

  7. Delays in clinical development of neurological drugs in Japan.

    PubMed

    Ikeda, Masayuki

    2017-06-28

    The delays in the approval and development of neurological drugs between Japan and other countries have been a major issue for patients with neurological diseases. The objective of this study was to analyze factors contributing to the delay in the launching of neurological drugs in Japan. We analyzed data from Japan and the US for the approval of 42 neurological drugs, all of which were approved earlier in the US than in Japan, and examined the potential factors that may cause the delay of their launch. Introductions of the 42 drugs in Japan occurred at a median of 87 months after introductions in the US. The mean review time of new drug applications for the 20 drugs introduced in Japan in January 2011 or later (15 months) was significantly shorter than that for the other 22 drugs introduced in Japan in December 2010 or earlier (24 months). The lag in the Japan's review time behind the US could not explain the approval delays. In the 31 of the 42 drugs, the application data package included overseas data. The mean review time of these 31 drugs (17 months) was significantly shorter than that of the other 11 drugs without overseas data (26 months). The mean approval lag behind the US of the 31 drugs (78 months) was also significantly shorter than that of the other 11 drugs (134 months). These results show that several important reforms in the Japanese drug development and approval system (e.g., inclusion of global clinical trial data) have reduced the delays in the clinical development of neurological drugs.

  8. Sustained normalization of neurological disease after intracranial gene therapy in a feline model**

    PubMed Central

    McCurdy, Victoria J.; Johnson, Aime K.; Gray-Edwards, Heather; Randle, Ashley N.; Brunson, Brandon L.; Morrison, Nancy E.; Salibi, Nouha; Johnson, Jacob A.; Hwang, Misako; Beyers, Ronald J.; Leroy, Stanley G.; Maitland, Stacy; Denney, Thomas S.; Cox, Nancy R.; Baker, Henry J.; Sena-Esteves, Miguel; Martin, Douglas R.

    2015-01-01

    Progressive debilitating neurological defects characterize feline GM1 gangliosidosis, a lysosomal storage disease caused by deficiency of lysosomal β-galactosidase. No effective therapy exists for affected children, who often die before age 5. In the current study, an adeno-associated viral vector carrying the therapeutic gene was injected bilaterally into two brain targets (thalamus and deep cerebellar nuclei) of a feline model of GM1 gangliosidosis. Gene therapy normalized β-galactosidase activity and storage throughout the brain and spinal cord. The mean survival of 12 treated GM1 animals was >38 months compared to 8 months for untreated animals. Seven of the 8 treated animals remaining alive demonstrated normalization of disease, with abrogation of many symptoms including gait deficits and postural imbalance. Sustained correction of the GM1 gangliosidosis disease phenotype after limited intracranial targeting by gene therapy in a large animal model suggests that this approach may be useful for treating the human version of this lysosomal storage disorder. PMID:24718858

  9. Liposomes and nanotechnology in drug development: focus on neurological targets

    PubMed Central

    Ramos-Cabrer, Pedro; Campos, Francisco

    2013-01-01

    Neurological diseases represent a medical, social, and economic problem of paramount importance in developed countries. Although their etiology is generally known, developing therapeutic interventions for the central nervous system is challenging due to the impermeability of the blood–brain barrier. Thus, the fight against neurological diseases usually struggles “at the gates” of the brain. Flooding the bloodstream with drugs, where only a minor fraction reaches its target therapeutic site, is an inefficient, expensive, and dangerous procedure, because of the risk of side effects at nontargeted sites. Currently, advances in the field of nanotechnology have enabled development of a generation of multifunctional molecular platforms that are capable of transporting drugs across the blood–brain barrier, targeting specific cell types or functional states within the brain, releasing drugs in a controlled manner, and enabling visualization of processes in vivo using conventional imaging systems. The marriage between drug delivery and molecular imaging disciplines has resulted in a relatively new discipline, known as theranostics, which represents the basis of the concept of personalized medicine. In this study, we review the concepts of the blood–brain barrier and the strategies used to traverse/bypass it, the role of nanotechnology in theranostics, the wide range of nanoparticles (with emphasis on liposomes) that can be used as stealth drug carriers, imaging probes and targeting devices for the treatment of neurological diseases, and the targets and targeting strategies envisaged in the treatment of different types of brain pathology. PMID:23486739

  10. The influence of fish oil on neurological development and function.

    PubMed

    Abu-Ouf, Noran M; Jan, Mohammed M

    2014-01-01

    Fish oil originates from fish tissue rich in omega-3 fatty acids. These include eicosapentaenoic acid (EPA), and docosahexaenoic acid (DHA). Healthy individuals are advised to consume foods rich in fish oil at least twice a week. However, such intake varies depending on cultural or personal preference, and socio-economic status. Many families and patients with chronic neurological conditions consume supplements containing omega-3 fatty acids. We are frequently requested to give advice and recommendations on using such agents to help improve neurological developmental and cognitive functions. The objective of this review is to discuss the available literature supporting the role of fish oils on brain development and function. There is a growing body of literature suggesting a potential benefit of long chain polyunsaturated fatty acids; however it is still unclear if there are response variations according to the developmental stage, age, and dose.

  11. Comparison of micronutrient levels in children with cerebral palsy and neurologically normal controls.

    PubMed

    Kalra, Swati; Aggarwal, Anju; Chillar, Neelam; Faridi, M M A

    2015-02-01

    To measure levels of micronutrients in children with cerebral palsy and compare them with neurologically normal children of similar nutritional status. Fifty children with cerebral palsy (2-12 y) and 50 age and sex matched controls of similar nutritional status were enrolled. Detailed dietary history was recorded and nutritional status assessed. Venous blood (3 ml) was drawn for analysis. Micronutrient levels were measured as per standard technique. Serum iron was 12.6 ± 5.9 and 20.9 ± 3.3 μmol/L in CP and controls respectively (P < 0.001). Mean copper levels were 106.2 ± 38.3 μg/dl in CP and 128.8 ± 20.2 μg/dl in controls (P < 0.001); magnesium levels were 1.97 ± 0.4 and 2.2 ± 0.3 mg/dl (P = 0.003). Zinc levels were similar in CP and controls (P = 0.979). The mean energy intake was significantly less in CP (P = 0.016). Mean protein intake did not vary significantly (P = 0.847). No correlation was found between energy intake and serum levels of micronutrients (P > 0.05). There was no difference in micronutrient levels with respect to gross motor functional classification system (GMFCS) grades and limb involvement (P > 0.05). The serum levels of iron, copper and magnesium are significantly less in children with cerebral palsy, hence the need for supplementation.

  12. NEUROLOGICAL AND MEDICAL FACTORS DISCRIMINATING BETWEEN NORMAL CHILDREN AND THOSE WITH LEARNING DISABILITY.

    ERIC Educational Resources Information Center

    FORREST, THOMAS

    COMPREHENSIVE NEUROLOGICAL EXAMINATIONS WERE ADMINISTERED TO THE 264 CHILDREN DIVIDED INTO FOUR GROUPS--EDUCATIONALLY HANDICAPPED (EH), SUCCESSFUL ACADEMIC (SA) CONTROLS, AND THE SIBLINGS OF EACH GROUP (EHS AND SAS). ON SEVERAL MEASURES AND TASKS THE EH CHILDREN WERE DIFFERENTIATED FROM THE SA CHILDREN, AND STRONG SIMILARITIES WERE ALSO FOUND…

  13. The Relationship of Family Background Factors and Neurological Status to Hyperactivity in a Normal Class Setting.

    ERIC Educational Resources Information Center

    Clarkson, Frank E.; Hayden, Benjamin S.

    Boys, aged 6-10 in regular classes, who were judged as hyperactive by their teachers were compared with matched non-hyperkinetic boys in terms of family background information and neurological functioning. Parent interview data were obtained on 109 hyperkinetic and 135 control Ss, while 121 hyperkinetic and 142 control Ss underwent pediatric…

  14. Neurological and physical maturation in normal growth singletons from 37 to 41 weeks' gestation.

    PubMed

    Amiel-Tison, C; Maillard, F; Lebrun, F; Bréart, G; Papiernik, E

    1999-03-01

    An evaluator blinded to gestational age (GA) assessed a cohort of 397 singletons born at between 37 and 41 week's gestation, by looking at 11 criteria exploring neurological maturity and 12 criteria exploring physical maturity. The analysis of correlation coefficients shows various degrees of association between GA and each of the criteria examined. A highly significant correlation (p < 0.001) was found for 4 neurological criteria defining passive tone in limbs and sucking reflex. The activity of flexor muscles of the neck and crossed extension reflex were also associated with maturity but weakly (p < 0.01). A highly significant correlation (p < 0.001) was found for 8 of the physical criteria, skin colour and texture, lanugo, ear firmness, genitalia, breast size, nipple formation and plantar skin creases. Oedema, skull firmness and ear form were also associated but weakly. With multivariate analysis combining the neurological and physical criteria, predictive values ranked in the following order: 1) plantar skin, 2) breast size, 3) sucking reflex, 4) scarf sign, 5) skin colour, 6) genitalia, 7) popliteal angle, 8) return to flexion of forearms, 9) dorsiflexion angle. In conclusion, a score based on physical and neurological criteria is associated with duration of pregnancy (r2 = 0.32) between 37 and 41 weeks' gestation. Such an instrument allows us to study fetal maturity as a variable independent of GA, and therefore makes it possible to identify various influences that may modify maturational rate during the last weeks of pregnancy.

  15. The Relationship of Development and Normalization.

    ERIC Educational Resources Information Center

    Pieper, Elizabeth J.

    1979-01-01

    The author concludes that, without changing practice to reflect both the philosophical concepts of normalization and the psychological concepts of development, such handicapped people will continue to suffer the traditional trade-offs of normalization at the sacrifice of development, or development at the cost of normalization. (DLS)

  16. The utility of neuroimaging in the evaluation of children with migraine or chronic daily headache who have normal neurological examinations.

    PubMed

    Lewis, D W; Dorbad, D

    2000-09-01

    To assess the utility of neuroimaging in the evaluation of children presenting with two of the most common forms of headache, migraine and chronic daily headache, and to determine the utility and pathological yield of neuroimaging in specific headache syndromes in children whose neurological examinations are normal. We retrospectively reviewed the medical records of patients coded for headache (ICD 784) in the Pediatric Neurology Clinic at Children's Hospital of the King's Daughters between 1997 and 1999. The age range considered was between 6 and 18 years. The study focused on the two most common types of headache, uncomplicated migraine and chronic daily headache. Only patients with normal physical and neurological examinations were considered in this analysis. Three hundred two patients were coded for headache within the defined age group. One hundred seven (35.4%) patients fulfilled IHS-R criteria as having uncomplicated migraine with a normal examination, and 30 (9.9%) patients fulfilled criteria for chronic daily headache. Twenty-nine (9.6%) patients presented with migrainelike symptoms, and 6 (2.0%) presented with chronic daily symptoms, but had neurological abnormalities present on examination. The remainder of the patients with headache had the following etiologies: 50 (16.6%) with secondary headache, 22 (7.3%) with complicated migraine, 20 (6.6%) with posttraumatic headache, 13 (4.3%) with seizure-related headache, 11 (3.6%) with brain tumors, 10 (3.3%) with tension-type headache, and 4 (1.3%) with pseudotumor cerebri. Of the 107 patients with migraine, 42 (39.3%) received CT scans; 2 (4.8%) of which were considered "abnormal." One of the abnormalities was an arachnoid cyst and the other was a dilated Virchow-Robin space. Twelve (11.2%) patients with migraine received an MRI, 2 (16.7%) of which were considered abnormal. Both of the abnormal findings were Chiari type I malformations. Of the 30 patients with chronic daily headache, 17 (56.7%) received CT

  17. The use of an electronic von Frey device for evaluation of sensory threshold in neurologically normal dogs and those with acute spinal cord injury.

    PubMed

    Moore, S A; Hettlich, B F; Waln, A

    2013-08-01

    The utility and inter-session repeatability of sensory threshold measurements using an electronic von Frey anesthesiometer (VFA) were assessed in a group of six neurologically normal dogs. Sensory threshold values obtained in neurologically normal dogs were compared to those of dogs with acute spinal cord injury (SCI) caused by intervertebral disc extrusion (n=6) and to a group of neurologically normal dogs with cranial cruciate ligament rupture (CCLR; n=6). Sensory threshold values in neurologically normal dogs were 155.8 ± 37.7 g and 154.7 ± 67.2 g for the left and right pelvic limbs, respectively. The difference in mean sensory threshold values obtained for the group when two distinct testing sessions were compared was not statistically significant (P>0.05). Mean sensory threshold values for the group with SCI were significantly higher than those for neurologically normal dogs at 351.1 ± 116.5 g and 420.3 ± 157.7 g for the left and right pelvic limbs, respectively (P=0.01). A comparison of sensory threshold values for the group with CCLR and neurologically normal dogs was not statistically significant (P>0.05). The modified dorsal technique for VFA described here represents a reliable method to assess sensory threshold in neurologically normal dogs and in those with SCI. Copyright © 2012 Elsevier Ltd. All rights reserved.

  18. Frontiers in therapeutic development of allopregnanolone for Alzheimer’s disease and other neurological disorders

    PubMed Central

    Irwin, Ronald W.; Solinsky, Christine M.; Brinton, Roberta Diaz

    2014-01-01

    Allopregnanolone (Allo), a neurosteroid, has emerged as a promising promoter of endogenous regeneration in brain. In a mouse model of Alzheimer’s disease, Allo induced neurogenesis, oligodendrogenesis, white matter generation and cholesterol homeostasis while simultaneously reducing β-amyloid and neuroinflammatory burden. Allo activates signaling pathways and gene expression required for regeneration of neural stem cells and their differentiation into neurons. In parallel, Allo activates systems to sustain cholesterol homeostasis and reduce β-amyloid generation. To advance Allo into studies for chronic human neurological conditions, we examined translational and clinical parameters: dose, regimen, route, formulation, outcome measures, and safety regulations. A treatment regimen of once per week at sub-sedative doses of Allo was optimal for regeneration and reduction in Alzheimer’s pathology. This regimen had a high safety profile following chronic exposure in aged normal and Alzheimer’s mice. Formulation of Allo for multiple routes of administration has been developed for both preclinical and clinical testing. Preclinical evidence for therapeutic efficacy of Allo spans multiple neurological diseases including Alzheimer’s, Parkinson’s, multiple sclerosis, Niemann-Pick, diabetic neuropathy, status epilepticus, and traumatic brain injury. To successfully translate Allo as a therapeutic for multiple neurological disorders, it will be necessary to tailor dose and regimen to the targeted therapeutic mechanisms and disease etiology. Treatment paradigms conducted in accelerated disease models in young animals have a low probability of successful translation to chronic diseases in adult and aged humans. Gender, genetic risks, stage and burden of disease are critical determinants of efficacy. This review focuses on recent advances in development of Allo for Alzheimer’s disease (AD) that have the potential to accelerate therapeutic translation for multiple unmet

  19. Chapter 8: the development of neurology and the neurological sciences in the 17th century.

    PubMed

    Isler, Hansruedi

    2010-01-01

    Circa 1660 several favorable factors, instrumental to the invention of neurology, converged at the University of Oxford. Animals and men were believed to have a material soul whose functions throughout the nervous system were accessible to research. In 1659 inductive methods were introduced in clinical medicine by Thomas Willis, the founder of English epidemiology and biochemistry. The Vertuosi,who later founded the Royal Society, performed chemical experiments in teams, and Willis, head of their laboratory, gained experience in teamwork. In 1658 J.J. Wepfer published his method of dye injection in cerebral vessels at autopsy, and Christopher Wren had already experimented with intravenous injections. William Petty had performed dissections at Leiden, training with Francis Sylvius's brain and comparative anatomy. Petty came to Oxford in 1650, began to study chemistry with Willis, and instructed him in Sylvius's methods of cerebral and comparative anatomy. Willis continued this work with a team of highly qualified colleagues, Wren included, and published the first monograph on brain anatomy, Cerebri anatome, in 1664. This Latin book, illustrated by Wren, came out in four editions in the first year, and was reprinted up to 1720. It contained a definition of reflex action, the recognition of the general functions of cortex, white matter, and brain tracts, a complete description of the autonomic nervous system, Willis's new term "Neurologia," and his promise to follow up with his "Psychologia." He presented the latter in 1672 as De anima brutorum, a book on the material soul of animals and man as the carrier of all functions of the nervous system. There was a physiological part, a textbook of neurophysiology, and a pathological part, a compendium of neurological and psychiatric syndromes, with early descriptions of myasthenia, restless legs, narcolepsy, dissociative and bipolar disease, and general paralysis of the insane. In 1667 he published a book on convulsive

  20. Vision for Perception and Vision for Action: Normal and Unusual Development

    ERIC Educational Resources Information Center

    Dilks, Daniel D.; Hoffman, James E.; Landau, Barbara

    2008-01-01

    Evidence suggests that visual processing is divided into the dorsal ("how") and ventral ("what") streams. We examined the normal development of these streams and their breakdown under neurological deficit by comparing performance of normally developing children and Williams syndrome individuals on two tasks: a visually guided action ("how") task,…

  1. Spatial control of reflexes, posture and movement in normal conditions and after neurological lesions

    PubMed Central

    Feldman, Anatol G.; Levin, Mindy F.

    2016-01-01

    Abstract Control of reflexes is usually associated with central modulation of their sensitivity (gain) or phase-dependent inhibition and facilitation of their influences on motoneurons (reflex gating). Accumulated empirical findings show that the gain modulation and reflex gating are secondary, emergent properties of central control of spatial thresholds at which reflexes become functional. In this way, the system pre-determines, in a feedforward and task-specific way, where, in a spatial domain or a frame of reference, muscles are allowed to work without directly prescribing EMG activity and forces. This control strategy is illustrated by considering reflex adaptation to repeated muscle stretches in healthy subjects, a process associated with implicit learning and generalization. It has also been shown that spasticity, rigidity, weakness and other neurological motor deficits may have a common source – limitations in the range of spatial threshold control elicited by neural lesions. PMID:28149391

  2. Normal development of brain circuits.

    PubMed

    Tau, Gregory Z; Peterson, Bradley S

    2010-01-01

    Spanning functions from the simplest reflex arc to complex cognitive processes, neural circuits have diverse functional roles. In the cerebral cortex, functional domains such as visual processing, attention, memory, and cognitive control rely on the development of distinct yet interconnected sets of anatomically distributed cortical and subcortical regions. The developmental organization of these circuits is a remarkably complex process that is influenced by genetic predispositions, environmental events, and neuroplastic responses to experiential demand that modulates connectivity and communication among neurons, within individual brain regions and circuits, and across neural pathways. Recent advances in neuroimaging and computational neurobiology, together with traditional investigational approaches such as histological studies and cellular and molecular biology, have been invaluable in improving our understanding of these developmental processes in humans in both health and illness. To contextualize the developmental origins of a wide array of neuropsychiatric illnesses, this review describes the development and maturation of neural circuits from the first synapse through critical periods of vulnerability and opportunity to the emergent capacity for cognitive and behavioral regulation, and finally the dynamic interplay across levels of circuit organization and developmental epochs.

  3. Dock protein family in brain development and neurological disease.

    PubMed

    Shi, Lei

    2013-11-01

    The family of dedicator of cytokinesis (Dock), a protein family that belongs to the atypical Rho guanine nucleotide exchange factors (GEFs) for Rac and/or Cdc42 GTPases, plays pivotal roles in various processes of brain development. To date, 11 members of Docks have been identified in the mammalian system. Emerging evidence has suggested that members of the Dock family are associated with several neurodegenerative and neuropsychiatric diseases, including Alzheimer disease and autism spectrum disorders. This review summarizes recent advances on the understanding of the roles of the Dock protein family in normal and diseased processes in the nervous system. Furthermore, interacting proteins and the molecular regulation of Docks are discussed.

  4. Dock protein family in brain development and neurological disease

    PubMed Central

    Shi, Lei

    2013-01-01

    The family of dedicator of cytokinesis (Dock), a protein family that belongs to the atypical Rho guanine nucleotide exchange factors (GEFs) for Rac and/or Cdc42 GTPases, plays pivotal roles in various processes of brain development. To date, 11 members of Docks have been identified in the mammalian system. Emerging evidence has suggested that members of the Dock family are associated with several neurodegenerative and neuropsychiatric diseases, including Alzheimer disease and autism spectrum disorders. This review summarizes recent advances on the understanding of the roles of the Dock protein family in normal and diseased processes in the nervous system. Furthermore, interacting proteins and the molecular regulation of Docks are discussed. PMID:24563715

  5. [Contribution of E. W. Schmidt to the development of Soviet neurology and its international relations].

    PubMed

    Schulze, H A

    1987-05-01

    A short retrospect, occasioned by the death on July 13, 1985, of E. W. Schmidt, of his career as director of the Neurological Research Institute at the Academy of Medical Sciences of the USSR, and his influence as scientist, medical man, and humanist on the development of neurology in the Soviet Union and its representation on the international scene.

  6. Enterovirus 71-Induced Neurological Disorders in Young Gerbils, Meriones unguiculatus: Development and Application of a Neurological Disease Model

    PubMed Central

    Yao, Ping-Ping; Qian, Lei; Xia, Yong; Xu, Fang; Yang, Zhang-Nv; Xie, Rong-Hui; Li, Xiao; Liang, Wei-Feng; Huang, Xiao-Xiao; Zhu, Zhi-Yong; Zhu, Han-Ping

    2012-01-01

    A reliable disease model mimicking Enterovirus 71 (EV71) infection in humans is essential for understanding pathogenesis and for developing a safe and effective vaccine. Commonly used rodent models including mouse or rat models are not suitable for vaccine evaluation because the rodents are resistant to EV71 infection after they reach the age of 6 days. In this study, 21-day-old gerbils inoculated intraperitoneally (IP) with a non mouse-adapted EV71 strain developed neurological lesion-related signs including hind limb paralysis, slowness, ataxia and lethargy similar to those of central nervous system (CNS) infection of EV71 in humans. The infected gerbils eventually died of the neurological lesions and EV71 could be isolated from lung, liver, spleen, kidney, heart, spinal cord, brain cortex, brainstem and skeletal muscle. Significantly high virus replication was detected in spinal cord, brainstem and skeletal muscle by cellular analysis, real-time quantitative PCR (RT-PCR) and immunohistochemical staining. Histopathologic changes such as neuronal degeneration, neuronal loss and neuronophagia were observed in spinal cord, brain cortex, brainstem, and skeletal muscle along with necrotizing myositis and splenic atrophy. Gerbils that received two doses of inactive whole-virus vaccine showed no EV71-specific symptoms after challenged with EV71. In contrast, gerbils that received mock vaccination died of EV71-induced neuropathology after challenged with EV71. The result indicates that gerbils can serve as a reliable disease model for evaluating safety and efficacy of EV71 vaccine. PMID:23284845

  7. Performance on a 1-week delayed recall task is associated with medial temporal lobe structures in neurologically normal older adults.

    PubMed

    Saloner, R; Casaletto, K B; Marx, G; Dutt, S; Vanden Bussche, A B; You, M; Fox, E; Stiver, J; Kramer, J H

    2017-08-31

    Traditional episodic memory tests employ a delayed recall length ranging from 10 to 30 min. The neurobiological process of memory consolidation extends well beyond these time intervals, however, raising the possibility that these tests might not be fully sensitive to the subtle neurocognitive changes found in early disease or age-related decline. We aimed to determine the sensitivity of a 1-week delayed recall paradigm to medial temporal lobe (MTL) structure among neurologically normal older adults. One hundred and forty functionally intact, older adults (mean age = 75.8) completed a story recall test in which participants learned to 90% criterion. Recall was tested after 30-min and 1-week. Participants also completed a standardized list learning task with a 20-min delay (n = 129) and a structural brain MRI. The MTL, including the parahippocampal gyrus, hippocampus, and entorhinal, was our primary region of interest. Controlling for age, education, gender and total intracranial volume, the standard 20- and 30-min recalls showed no significant relationship with MTL. In contrast, 1-week recall was uniquely associated with MTL structure (partial r = .24, p = .006), specifically entorhinal (partial r = .27; p = .001) and hippocampal (partial r = .21, p = .02) volumes. Memory paradigms that utilize 1-week delays are more sensitive than standard paradigms to MTL volumes in neurologically normal older adults. Longer delay periods may improve detection of memory consolidation abilities associated with age-related, and potentially pathological, neurobehavioral change.

  8. Prevalence of lateral ventricle asymmetry in brain MRI studies of neurologically normal dogs and dogs with idiopathic epilepsy.

    PubMed

    Pivetta, Mauro; De Risio, Luisa; Newton, Richard; Dennis, Ruth

    2013-01-01

    Asymmetry of the cerebral lateral ventricles is a common finding in cross-sectional imaging of otherwise normal canine brains and has been assumed to be incidental. The purpose of this retrospective study was to compare the prevalence of ventricular asymmetry in brain MRI studies of normal dogs and dogs with idiopathic epilepsy. Brain MRI archives were searched for 100 neurologically normal dogs (Group 1) and 100 dogs with idiopathic epilepsy (Group 2). For each dog, asymmetry of the lateral ventricles was subjectively classified as absent, mild, moderate, and severe based on a consensus of two observers who were unaware of group status. Ventricular areas were measured from transverse T1W images at the level of the interthalamic adhesion. An asymmetry ratio was calculated as the ratio of the larger to smaller ventricular transverse area. There was excellent agreement between subjective assessments of ventricular asymmetry and quantitative assessments using asymmetry ratios (k = 0.995). The prevalence of asymmetry was 38% in Group 1 dogs and 44% in Group 2 dogs. Assymmetry was scored as mild in the majority of Group 2 dogs. There was no significant association between presence/absence and degree of ventricular asymmetry vs. dog group, age, gender, or skull conformation. Findings from the current study supported previously published assumptions that asymmetry of the lateral cerebral ventricles is an incidental finding in MRI studies of the canine brain.

  9. A Prospective Study of Asymptomatic Intracranial Atherosclerotic Stenosis in Neurologically Normal Volunteers in a Japanese Cohort

    PubMed Central

    Matsui, Ryukichi; Nakagawa, Tomonori; Takayoshi, Hiroyuki; Onoda, Keiichi; Oguro, Hiroaki; Nagai, Atsushi; Yamaguchi, Shuhei

    2016-01-01

    Atherosclerotic stenosis of major intracranial arteries is a leading cause of ischemic stroke in Asia. However, the long-term prognosis of asymptomatic intracranial atherosclerotic stenosis (ICAS) in healthy volunteers has not been fully examined. Here, we conducted a longitudinal study to examine the prognosis of healthy volunteers with asymptomatic ICAS and to determine the risk factors for ICAS, including asymptomatic brain parenchymal lesions. We studied 2,807 healthy Japanese volunteers with no history of stroke (mean age, 62.0 years). They were followed for a mean interval of 64.5 months. The degree of ICAS and the presence of asymptomatic brain lesions were assessed by using magnetic resonance imaging. Asymptomatic ICAS was detected in 166 volunteers (5.9%) at the initial examination. Moderate and mild stenoses were observed in 1.5 and 4.4% of patients, respectively. Significant risk factors for ICAS were older age and a history of hypertension and/or dyslipidemia. During follow-up, ischemic stroke developed in 32 volunteers. Seven strokes occurred in the ICAS group, whose stroke incidence rate was higher than that in the non-ICAS group (0.78 vs. 0.18% per year). According to a Cox regression analysis, asymptomatic ICAS was an independent risk factor for future ischemic stroke after adjustment for age. Furthermore, after asymptomatic brain lesions were taken into account, ICAS was still a significant risk factor for stroke onset. In conclusion, even mild to moderate asymptomatic ICAS was a significant risk factor for future stroke, independent of asymptomatic brain lesions, in a healthy Japanese population. Mild to moderate ICAS might be a therapeutic target for stroke prevention. PMID:27047445

  10. Risk factors for development of neurologic disease after experimental exposure to equine herpesvirus-1 in horses.

    PubMed

    Allen, George P

    2008-12-01

    To identify risk factors associated with development of clinical neurologic signs in horses exposed to equine herpesvirus-1 (EHV-1). 36 adult horses. Blood samples collected before and after challenge inoculation with nonneuropathogenic or neuropathogenic EHV-1 were analyzed for leukocyte-associated viremia, serum neutralizing antibody, and EHV-1-specific cytotoxic T-lymphocyte precursors (CTLPs). Associations between variables and neurologic disease and correlations between age category or breed and development of neurologic disease were examined. 9 horses developed CNS signs (ataxia, hind limb paresis or paralysis, bladder atony, or recumbency). Neurologic deficits were correlated with infection by a neuropathogenic strain of EHV-1, age>20 years, high postexposure viremic load, and low preexposure concentration of CTLPs. No significant correlations were observed between preinfection titers or horse breed and postinfection development of neurologic signs. Horses with high concentrations of preexisting CTLPs, regardless of age, strain of virus, or titer, were more likely to control the magnitude of postinfection leukocyte-associated viremia and subsequent development of neurologic disease; therefore, CTLPs appear to be a critical requirement for protective immunity against EHV-1-induced myeloencephalopathy. The importance of achieving immunity related to high concentrations of vaccine-induced CTLPs in horses at high risk for exposure to neuropathogenic strains of EHV-1 is indicated.

  11. Neurologic symptoms as the only manifestation of B12 deficiency in a young patient with normal hematocrit, MCV, peripheral blood smear and homocysteine levels.

    PubMed

    Voukelatou, Panagiota; Vrettos, Ioannis; Kalliakmanis, Andreas

    2016-12-01

    B12 deficiency is associated with several neurological manifestations. It is well documented that neurologic symptoms due to B12 deficiency may sometimes present in the absence of anemia. However, in most cases there are several indicating factors like megaloblastic changes in complete blood count, hypersegmentated neutrophils or macroovalocytes in peripheral blood smear and abnormal homocysteine levels. In this report, we describe a case of a 32-year-old man with neurological symptomatology as the only manifestation of B12 deficiency with normal hematocrit, mean cell volume, peripheral blood smear and homocysteine levels. All the above emphasize the point that patients with neurologic symptoms must be screened for B12 deficiency even in the absence of any laboratory evidence.

  12. Neurologic symptoms as the only manifestation of B12 deficiency in a young patient with normal hematocrit, MCV, peripheral blood smear and homocysteine levels

    PubMed Central

    Voukelatou, Panagiota; Vrettos, Ioannis; Kalliakmanis, Andreas

    2016-01-01

    B12 deficiency is associated with several neurological manifestations. It is well documented that neurologic symptoms due to B12 deficiency may sometimes present in the absence of anemia. However, in most cases there are several indicating factors like megaloblastic changes in complete blood count, hypersegmentated neutrophils or macroovalocytes in peripheral blood smear and abnormal homocysteine levels. In this report, we describe a case of a 32-year-old man with neurological symptomatology as the only manifestation of B12 deficiency with normal hematocrit, mean cell volume, peripheral blood smear and homocysteine levels. All the above emphasize the point that patients with neurologic symptoms must be screened for B12 deficiency even in the absence of any laboratory evidence. PMID:28031855

  13. Development of learning objectives for neurology in a veterinary curriculum: part I: undergraduates.

    PubMed

    Lin, Yu-Wei; Volk, Holger A; Penderis, Jacques; Tipold, Andrea; Ehlers, Jan P

    2015-01-13

    With an increasing caseload of veterinary neurology patients in first opinion practice, there is a requirement to establish relevant learning objectives for veterinary neurology encompassing knowledge, skills and attitudes for veterinary undergraduate students in Europe. With help of experts in veterinary neurology from the European College of Veterinary Neurology (ECVN) and the European Society of Veterinary Neurology (ESVN) a survey of veterinary neurologic learning objectives using a modified Delphi method was conducted. The first phase comprised the development of a draft job description and learning objectives by a working group established by the ECVN. In the second phase, a quantitative questionnaire (multiple choice, Likert scale and free text) covering 140 learning objectives and subdivided into 8 categories was sent to 341 ESVN and ECVN members and a return rate of 62% (n = 213/341) was achieved. Of these 140 learning objectives ECVN Diplomates and ESVN members considered 42 (30%) objectives as not necessary for standard clinical veterinary neurology training, 94 (67%) were graded to be learned at a beginner level and 4 (3%) at an advanced level. The following objectives were interpreted as the most important day one skills: interpret laboratory tests, perform a neurological examination and establish a neuroanatomical localization. In this survey the three most important diseases of the central nervous system included epilepsy, intervertebral disc disease and inflammatory diseases. The three most important diseases of the peripheral nervous system included polyradiculoneuritis, myasthenia gravis and toxic neuropathies. The results of this study should help to reform the veterinary curriculum regarding neurology and may reduce the phenomenon of "Neurophobia".

  14. Characterization of the various forms of the Reelin protein in the cerebrospinal fluid of normal subjects and in neurological diseases.

    PubMed

    Ignatova, Nina; Sindic, Christian J M; Goffinet, André M

    2004-03-01

    Reelin is a large extracellular glycoprotein that is defective in reeler mutant mice and plays a well-established role during brain development in human as well as rodents. In the adult brain, Reelin is expressed in a subset of GABAergic interneurons. Its role in disease states is not clearly defined, although it is implicated in autism and psychoses such as schizophrenia. In this report, we show that Reelin immunoreactive proteins can be detected in the human cerebrospinal fluid (CSF) with monoclonal antibodies directed against the N- and C-terminal regions of the protein. In CSF, Reelin is present as different products due to processing at two main sites; preservation at -20 degrees C increases processing further. CSF Reelin originates from the brain tissue and not from plasma. The protein was detected in comparable concentrations in children and adults, and the signal varied largely from subject to subject with no obvious correlation with age or neurological disease state.

  15. Epigenetic mechanisms in the development of memory and their involvement in certain neurological diseases.

    PubMed

    Rosales-Reynoso, M A; Ochoa-Hernández, A B; Juárez-Vázquez, C I; Barros-Núñez, P

    Today, scientists accept that the central nervous system of an adult possesses considerable morphological and functional flexibility, allowing it to perform structural remodelling processes even after the individual is fully developed and mature. In addition to the vast number of genes participating in the development of memory, different known epigenetic mechanisms are involved in normal and pathological modifications to neurons and therefore also affect the mechanisms of memory development. This study entailed a systematic review of biomedical article databases in search of genetic and epigenetic factors that participate in synaptic function and memory. The activation of gene expression in response to external stimuli also occurs in differentiated nerve cells. Neural activity induces specific forms of synaptic plasticity that permit the creation and storage of long-term memory. Epigenetic mechanisms play a key role in synaptic modification processes and in the creation and development of memory. Changes in these mechanisms result in the cognitive and memory impairment seen in neurodegenerative diseases (Alzheimer disease, Huntington disease) and in neurodevelopmental disorders (Rett syndrome, fragile X, and schizophrenia). Nevertheless, results obtained from different models are promising and point to potential treatments for some of these diseases. Copyright © 2013 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  16. Transgenic mice with a mutated collagen promoter display normal response during bleomycin-induced fibrosis and possess neurological abnormalities.

    PubMed

    Stoddart, J H; Ladd, D; Bronson, R T; Harmon, M; Jaworski, J; Pritzker, C; Lausen, N; Smith, B D

    2000-02-01

    We have previously identified a potential TGF-beta activation element (TAE) in the rat collagen alpha1(I) promoter at -1624 upstream of the transcriptional start site [Ritzenthaler et al., 1991, 1993]. To determine the importance of the TAE in vivo, we produced transgenic mice carrying 3.6 kb of the rat collagen alpha1(I) promoter linked to the reporter gene chloramphenicol acetyl transferase with and without site-directed mutations that eliminate DNA-protein binding at the TAE site. Tissue-specific expression of the reporter gene in transgenic mice with the mutated collagen promoter was similar to that of transgenic mice with the normal promoter in two genetic backgrounds as judged by in situ hybridization, reporter assays, and immunochemistry. Endotracheal instillation of bleomycin induces lung fibrosis, mediated in part by TGF-beta. Earlier studies indicated that expression of wild-type collagen-reporter gene was upregulated in transgenic mice lungs in response to endotracheal instillation of bleomycin. A similar level of reporter gene upregulation was observed in transgenic mice carrying the mutation in the TAE. Two lines of transgenic mice carrying the mutated promoter construct displayed unexpected neurological abnormalities. In the FVB genetic background, there was a higher than normal incidence of mortality, spontaneous seizures, and an inability to nurture offspring. Histological evidence demonstrated clear abnormalities, including disorderly arrangement of neurons in the hippocampus and significant laminar cortical necrosis in the cerebrum in animals after seizures. In the C57Bl/6 background, there was a high incidence of severe communicating hydrocephalus, early runting, and increased mortality similar to that in transgenic animals with astroglial overexpression of TGF-beta. These animals provide an interesting model system to investigate molecular mechanisms responsible for seizures and hydrocephalus. Copyright 2000 Wiley-Liss, Inc.

  17. Dynamic mapping of normal human hippocampal development.

    PubMed

    Gogtay, Nitin; Nugent, Tom F; Herman, David H; Ordonez, Anna; Greenstein, Deanna; Hayashi, Kiralee M; Clasen, Liv; Toga, Arthur W; Giedd, Jay N; Rapoport, Judith L; Thompson, Paul M

    2006-01-01

    The hippocampus, which plays an important role in memory functions and emotional responses, has distinct subregions subserving different functions. Because the volume and shape of the hippocampus are altered in many neuropsychiatric disorders, it is important to understand the trajectory of normal hippocampal development. We present the first dynamic maps to reveal the anatomical sequence of normal human hippocampal development. A novel hippocampal mapping technique was applied to a database of prospectively obtained brain magnetic resonance imaging (MRI) scans (100 scans in 31 children and adolescents), scanned every 2 yr for 6-10 yr between ages 4 and 25. Our results establish that the structural development of the human hippocampus is remarkably heterogeneous, with significant differences between posterior (increase over time) and anterior (loss over time) subregions. These distinct developmental trajectories of hippocampal subregions may parallel differences in their functional development.

  18. Development of the Neurological Institute: a strategic, improvement, and systems approach.

    PubMed

    Tinsley, Nancy; McCartney, Leigh Ann; Hdeib, Alia; Selman, Warren R

    2011-06-01

    The Neurological Institute at University Hospitals Case Medical Center is designed to be responsive to the ever-changing healthcare environment, aligning clinical services and goals in response to internal and external pressures for change. These goals are many, including the further development of system integration across disciplines and geographic locations, creation of a regional strategy, and research as well as education strategies that are aligned with clinical services, patient outcomes that demonstrate improved health status management, and improved financial strength. There are many details to the development of a strategic business unit such as the Neurological Institute, but this article focuses on the high-level strategies of developing the Neurological Institute and takes a closer look at the growth of one of its 16 centers of excellence.

  19. Zika infection and the development of neurological defects.

    PubMed

    Russo, Fabiele Baldino; Jungmann, Patricia; Beltrão-Braga, Patricia Cristina Baleeiro

    2017-03-31

    Starting with the outbreak in Brazil, Zika virus (ZIKV) infection has been correlated with severe syndromes such as Congenital Zika Syndrome (CZS) and Guillain- Barré Syndrome (GBS). Here we review the status of Zika virus pathogenesis in the central nervous system (CNS). One of the main concerns about ZIKV exposure during pregnancy is abnormal brain development, which results in microcephaly in newborns. Recent advances in in vitro research show that ZIKV can infect and obliterate cells from the CNS, such as progenitors, neurons, and glial cells. Neural progenitor cells seem to be the main target of the virus, with infection leading to less cell migration, neurogenesis impairment, cell death and, consequently, microcephaly in newborns. The downsizing of the brain can be directly associated with defective development of the cortical layer. In addition, in vivo investigations in mice reveal that ZIKV can cross the placenta and migrate to fetuses, but with a significant neurotropism, which results in brain damage for the pups. Another finding shows that hydrocephaly is an additional consequence of ZIKV infection, being detected during embryonic and fetal development in mouse, as well as after birth in humans. In spite of the advances in ZIKV research in the last year, the mechanisms underlying ZIKV infection in the (CNS) require further investigation particularly as there are currently no treatments or vaccines against ZIKV infection.

  20. Developing retinal biomarkers of neurological disease: an analytical perspective.

    PubMed

    MacCormick, Ian J C; Czanner, Gabriela; Faragher, Brian

    2015-01-01

    The inaccessibility of the brain poses a problem for neuroscience. Scientists have traditionally responded by developing biomarkers for brain physiology and disease. The retina is an attractive source of biomarkers since it shares many features with the brain. Some even describe the retina as a 'window' to the brain, implying that retinal signs are analogous to brain disease features. However, new analytical methods are needed to show whether or not retinal signs really are equivalent to brain abnormalities, since this requires greater evidence than direct associations between retina and brain. We, therefore propose a new way to think about, and test, how clearly one might see the brain through the retinal window, using cerebral malaria as a case study.

  1. Developing retinal biomarkers of neurological disease: an analytical perspective

    PubMed Central

    MacCormick, Ian JC; Czanner, Gabriela; Faragher, Brian

    2015-01-01

    The inaccessibility of the brain poses a problem for neuroscience. Scientists have traditionally responded by developing biomarkers for brain physiology and disease. The retina is an attractive source of biomarkers since it shares many features with the brain. Some even describe the retina as a ‘window’ to the brain, implying that retinal signs are analogous to brain disease features. However, new analytical methods are needed to show whether or not retinal signs really are equivalent to brain abnormalities, since this requires greater evidence than direct associations between retina and brain. We, therefore propose a new way to think about, and test, how clearly one might see the brain through the retinal window, using cerebral malaria as a case study. PMID:26174843

  2. Neurological channelopathies

    PubMed Central

    Graves, T; Hanna, M

    2005-01-01

    Ion channels are membrane-bound proteins that perform key functions in virtually all human cells. Such channels are critically important for the normal function of the excitable tissues of the nervous system, such as muscle and brain. Until relatively recently it was considered that dysfunction of ion channels in the nervous system would be incompatible with life. However, an increasing number of human diseases associated with dysfunctional ion channels are now recognised. Such neurological channelopathies are frequently genetically determined but may also arise through autoimmune mechanisms. In this article clinical, genetic, immunological, and electrophysiological aspects of this expanding group of neurological disorders are reviewed. Clinical situations in which a neurological channelopathy should enter into the differential diagnosis are highlighted. Some practical guidance on how to investigate and treat this complex group of disorders is also included. PMID:15640425

  3. Maternal Intimate Partner Violence: Relationships with Language and Neurological Development of Infants and Toddlers.

    PubMed

    Udo, Ifeyinwa E; Sharps, Phyllis; Bronner, Yvonne; Hossain, Mian B

    2016-07-01

    Objectives This longitudinal study examined the influence of Intimate Partner Violence (IPV) experience of pregnant women participating in the Domestic Violence Enhanced Home Visitation Program on the language and neurological development of infants and toddlers. Methods A total of 210 infants and toddlers born to women reporting low, moderate, and high levels of IPV were included in the analysis. Logistic regression analysis was used to determine the bivariate association between maternal IPV and risk of language and neurological delay of infants and toddlers and between covariates and language and neurological delay. Generalized estimating equation models with logit link was used to predict the risk of language and neurological delay of infants and toddlers as a result of maternal IPV. Results Infants and toddlers born to women exposed to moderate levels of IPV had increased odds of language delay compared to infants and toddlers of women who experienced low levels of violence (OR 5.31, 95 % CI 2.94, 9.50, p < 0.001). Infants and toddlers born to women who experienced moderate and high levels of IPV were at higher risk of neurological delay respectively, compared to infants and toddlers of women who experienced low levels of IPV (OR 5.42, 95 % CI 2.99, 9.82, p < 0.001 and OR 2.57, 95 % CI 1.11, 5.61, p = 0.026). Conclusions for Practice Maternal IPV is associated with increased risk of language and neurological delay of infants and toddlers. These findings have implications for health care for women and infants exposed to IPV. Clinicians including pediatricians working with pregnant women should screen for IPV throughout pregnancy to identify women and children at risk. Interventions to reduce maternal IPV and early intervention services for infants and toddlers exposed to IPV are necessary for optimal maternal and child health.

  4. Neurological assessment of preterm infants at term conceptional age in comparison with normal full-term infants.

    PubMed

    Forslund, M; Bjerre, I

    1983-10-01

    In a long-term prospective study 46 unselected infants born before 35 weeks of gestational age were followed up, which included repeated neurological and psychological examination. 40 of them were neurologically evaluated at term conceptional age and compared with 26 full-term newborns, all the infants being considered healthy. There was no difference in mean weight or length between the two groups, but mean head circumference was greater in the preterm group. The preterm infants had lower muscle tone as judged by spontaneous posture of arms and legs, and poor resistance to passive movements and slow arm recoil. In the traction test they had more head lag. The withdrawal and Moro reflexes were weaker, while asymmetric tonic neck reflex (ATNR) was easier to elicit. Head control in the sitting position was better. All infants were evaluated with a prenatal and perinatal optimality score, which was not however significantly correlated with the neurological findings. The preterm infants with only slightly reduced optimality score (low risk group) had approximately the same birth weight and gestational age as the other preterms. They more resembled the full-term infants with good resistance to passive movements, fast arm recoil and good responses concerning the withdrawal and Moro reflexes. However, they had a semiflexed position in supine and thus in this respect were more like the other preterms.

  5. [Psychomotor development and its disorders: between normal and pathological development].

    PubMed

    Vericat, Agustina; Bibiana Orden, Alicia

    2013-10-01

    This article discusses some aspects of psychomotor development and its disorders, with special emphasis on psychomotor retardation. Diagnostic classifications of psychomotor problems, such as DSM-IV and CIE-10, are referred to and their advantages and disadvantages are analyzed. The concept of normality as a synonym for the statistical mean in the context of psychomotor disorders is also analyzed in order to consider its dynamic and variability, thereby avoiding the normality/pathology opposition, while some issues, such as the social and cultural aspects, are highlighted, making it possible to rethink the universality and relativity of psychomotor development.

  6. NASA and technology. [considering neurologically handicapped

    NASA Technical Reports Server (NTRS)

    Wyatt, D. D.

    1974-01-01

    Potential contributions of NASA technology to enable the neurologically handicapped to cope with a normal environment are outlined. Research and development in the area of man's responses and accommodations to environmental stress are closely related to medical aspects of technological assistance devices for the neurologically handicapped.

  7. Normal development, oncogenesis and programmed cell death.

    PubMed

    Liebermann, D A

    1998-09-10

    Meeting's Report -- June 2, 1998, Sugarload Estate Conference Center, Philadelphia, Pennsylvania, USA. A symposium on Normal Development, Oncogenesis and Programmed Cell Death, was held at the Sugarload Estate Conference Center, Philadelphia, Pennsylvania, USA sponsored by the Fels Cancer Institute, Temple University School of Medicine, with the support of the Alliance Pharmaceutical Corporation. The symposium was organized by Drs Dan A Liebermann and Barbara Hoffman at the Fels. Invited speakers included: Dr Andrei V Gudkov (University of Illinois) who started the symposium talking about 'New cellular factors modulating the tumor suppressor function of p53'; Dr Yuri Lazebnik (Cold Spring Harbor Laboratories) spoke about 'Caspases considered as enemies within'; Dr E Premkumar Reddy (Fels Institute, Temple University) talked about recent exciting findings in his laboratory regarding 'JAK-STATs dedicated signaling pathways'; Dr Michael Greenberg (Harvard University) spoke about 'Signal transduction pathways that regulate differentiation and survival in the developing nervous system'; Dr Richard Kolesnick's (Memorial Sloan-Kettering Cancer Center) talk has been focused at 'Stress signals for apoptosis, including Ceramide and c-Jun Kinase/Stress-activated Protein Kinase'; Dr Barbara Hoffman (Fels Institute, Temple University) described research, conducted in collaboration with Dr Dan A Liebermann, aimed at deciphering the roles of 'myc, myb, and E2F as negative regulators of terminal differentiation', using hematopoietic cells as model system. Dr Daniel G Tenen (Harvard Medical School), described studies aimed at understanding the 'Regulation of hematopoietic cell development by lineage specific transcription regulators'. Dr George C Prendergast (The Wistar Institute) talked about the 'Myc-Bin1 signaling pathway in cell death and differentiation. Dr Ruth J Muschel (University of Pennsylvania) spoke about work, conducted in collaboration with Dr WG McKenna, aimed at

  8. MRI of normal fetal brain development.

    PubMed

    Prayer, Daniela; Kasprian, Gregor; Krampl, Elisabeth; Ulm, Barbara; Witzani, Linde; Prayer, Lucas; Brugger, Peter C

    2006-02-01

    Normal fetal brain maturation can be studied by in vivo magnetic resonance imaging (MRI) from the 18th gestational week (GW) to term, and relies primarily on T2-weighted and diffusion-weighted (DW) sequences. These maturational changes must be interpreted with a knowledge of the histological background and the temporal course of the respective developmental steps. In addition, MR presentation of developing and transient structures must be considered. Signal changes associated with maturational processes can mainly be ascribed to the following changes in tissue composition and organization, which occur at the histological level: (1) a decrease in water content and increasing cell-density can be recognized as a shortening of T1- and T2-relaxation times, leading to increased T1-weighted and decreased T2-weighted intensity, respectively; (2) the arrangement of microanatomical structures to create a symmetrical or asymmetrical environment, leading to structural differences that may be demonstrated by DW-anisotropy; (3) changes in non-structural qualities, such as the onset of a membrane potential in premyelinating axons. The latter process also influences the appearance of a structure on DW sequences. Thus, we will review the in vivo MR appearance of different maturational states of the fetal brain and relate these maturational states to anatomical, histological, and in vitro MRI data. Then, the development of the cerebral cortex, white matter, temporal lobe, and cerebellum will be reviewed, and the MR appearance of transient structures of the fetal brain will be shown. Emphasis will be placed on the appearance of the different structures with the various sequences. In addition, the possible utility of dynamic fetal sequences in assessing spontaneous fetal movements is discussed.

  9. Growth associated protein (GAP-43): cloning and the development of a sensitive ELISA for neurological disorders.

    PubMed

    Gnanapavan, Sharmilee; Yousaf, Nasim; Heywood, Wendy; Grant, Donna; Mills, Kevin; Chernajovsky, Yuti; Keir, Geoff; Giovannoni, Gavin

    2014-11-15

    GAP-43 has been studied in the rodent and mammalian brain and shown to be present specifically in areas undergoing axonal elongation and synapse formation. GAP-43 was cloned using the baculovirus expression system and purified. A sandwich ELISA was developed using the recombinant GAP-43 as standard and validated. CSF GAP-43 levels were analysed in benign intracranial hypertension, movement disorders, multiple sclerosis, neuropathy, CNS infections, motor neuron disease, and headache (neurological controls). GAP-43 levels were low in all disorders analysed (in particular motor neuron disease; p=0.001, and movement disorders and multiple sclerosis; p<0.0001) compared to controls, aside from CNS infections. GAP-43 is preferentially reduced in the CSF of neurological disorders associated with neurodegeneration. Copyright © 2014. Published by Elsevier B.V.

  10. [Development of neurology in Japan and its contribution to elucidate and resolve the sociomedical problems].

    PubMed

    Kuzuhara, Shigeki

    2009-11-01

    Japanese Society of Neurology (JSN) was established in 1960 with 643 members, and in 2009 it has grown up to a big society having more than 8,000 members including 3,600 neurology board specialists. JSN has greatly contributed in elucidating and resolving many socio-medical problems. I will take three topics including SMON (subacute myelo-optico-neuropathy), infectious Creutzfeldt-Jakob disease (CJD) and Minamata disease. SMON was a new epidemic disease characterized by subacute optic neuritis and myeloneuropathy associated with diarrhea and abdominal symptoms. The research committee clarified that it was a neurological complication of chinoform, a drug for gastroenteritis. CJD surveillance started in 1996 for variant CJD, and uncovered many patients who developed CJD after human dura draft. The government prohibited to use non-inactivated human dura. Minamata disease is an organic mercury poisoning of people who took fish contaminated by mercury in Minamata bay in Kumamoto or in Aganogawa river in Niigata. The factories discharged water contaminated with mercury which was accumulated in fish and shellfish. Still many victims claim for compensation to the companies and government. Neurologists in Kumamoto and Niigata greatly contributed to diagnose and treat the victims and to clarify the cause of the disease.

  11. Physical Development: What's Normal? What's Not?

    MedlinePlus

    ... Normal? What’s Not? Page Content Article Body ​Two boys or girls exactly the same age can start or end ... in Girls: What to Expect . Growth in both boys and girls slows considerably soon after puberty is complete. Having ...

  12. Vision for perception and vision for action: normal and unusual development.

    PubMed

    Dilks, Daniel D; Hoffman, James E; Landau, Barbara

    2008-07-01

    Evidence suggests that visual processing is divided into the dorsal ('how') and ventral ('what') streams. We examined the normal development of these streams and their breakdown under neurological deficit by comparing performance of normally developing children and Williams syndrome individuals on two tasks: a visually guided action ('how') task, in which participants posted a card into an oriented slot, and a perception ('what') task, in which they matched a card to the slot's orientation. Results showed that all groups performed worse on the action task than the perception task, but the disparity was more pronounced in WS individuals and in normal 3-4-year-olds than in older children. These findings suggest that the 'how' system may be relatively slow to develop and more vulnerable to breakdown than the 'what' system.

  13. Does aggressive and expectant management of severe preeclampsia affect the neurologic development of the infant?

    PubMed

    Ertekin, Arif Aktuğ; Kapudere, Bilge; Eken, Meryem Kurek; İlhan, Gülşah; Dırman, Şükriye; Sargın, Mehmet Akif; Deniz, Engin; Karatekin, Güner; Çöğendez, Ebru; Api, Murat

    2015-01-01

    To compare and evaluate the influences of expectant and aggressive management of severe preeclampsia on the first year neurologic development of the infants in pregnancies between 27 and 34 weeks of pregnancy. Seventy women with severe preeclampsia between 27 and 34 weeks of gestation were included in the study. 37 patients were managed aggressively (Group 1) and 33 patients were managed expectantly (Group 2). Glucocorticoids, magnesium sulfate infusion and antihypertensive drugs were administered to each group. After glucocorticoid administration was completed Group 1 was delivered either by cesarean section or vaginal delivery. In Group 2 magnesium sulfate infusion was stopped after glucocorticoid administration was completed. Antihypertensive drugs were given, bed rest and intensive fetal monitorization were continued in this group. The average weeks of gestation, one minute and five minute apgar scores and hospitalization time in intensive care unit were similar in both groups (P > 0.05). Three neonatal complications in Group 2 and five in Group 1 were detected according to the Denver Developmental Screening Test-II and one pathologic case was detected in both groups following neurologic examination. Neonatal mortality was seen in seven patients in Group 1 and one in Group 2. There were no significant differences between groups in terms of neonatal mortality and morbidity and maternal morbidity (P > 0.05). The average latency period was 3.45 ± 5.48 days in Group 2 and none in Group 1. There was no significant difference in the first year neurological development of infants whose mothers underwent either expectant and aggressive management for severe preeclampsia.

  14. Does aggressive and expectant management of severe preeclampsia affect the neurologic development of the infant?

    PubMed Central

    Ertekin, Arif Aktuğ; Kapudere, Bilge; Eken, Meryem Kurek; İlhan, Gülşah; Dırman, Şükriye; Sargın, Mehmet Akif; Deniz, Engin; Karatekin, Güner; Çöğendez, Ebru; Api, Murat

    2015-01-01

    Objective: To compare and evaluate the influences of expectant and aggressive management of severe preeclampsia on the first year neurologic development of the infants in pregnancies between 27 and 34 weeks of pregnancy. Methods: Seventy women with severe preeclampsia between 27 and 34 weeks of gestation were included in the study. 37 patients were managed aggressively (Group 1) and 33 patients were managed expectantly (Group 2). Glucocorticoids, magnesium sulfate infusion and antihypertensive drugs were administered to each group. After glucocorticoid administration was completed Group 1 was delivered either by cesarean section or vaginal delivery. In Group 2 magnesium sulfate infusion was stopped after glucocorticoid administration was completed. Antihypertensive drugs were given, bed rest and intensive fetal monitorization were continued in this group. Results: The average weeks of gestation, one minute and five minute apgar scores and hospitalization time in intensive care unit were similar in both groups (P > 0.05). Three neonatal complications in Group 2 and five in Group 1 were detected according to the Denver Developmental Screening Test-II and one pathologic case was detected in both groups following neurologic examination. Neonatal mortality was seen in seven patients in Group 1 and one in Group 2. There were no significant differences between groups in terms of neonatal mortality and morbidity and maternal morbidity (P > 0.05). The average latency period was 3.45 ± 5.48 days in Group 2 and none in Group 1. Conclusion: There was no significant difference in the first year neurological development of infants whose mothers underwent either expectant and aggressive management for severe preeclampsia. PMID:26770571

  15. [Early prediction of the neurological result at 12 months in newborns at neurological risk].

    PubMed

    Herbón, F; Garibotti, G; Moguilevsky, J

    2015-08-01

    The aim of this study was to evaluate the Amiel-Tison neurological examination (AT) and cranial ultrasound at term for predicting the neurological result at 12 months in newborns with neurological risk. The study included 89 newborns with high risk of neurological damage, who were discharged from the Neonatal Intensive Care of the Hospital Zonal Bariloche, Argentina. The assessment consisted of a neurological examination and cranial ultrasound at term, and neurological examination and evaluation of development at 12 months. The sensitivity, specificity, positive and negative predictor value was calculated. The relationship between perinatal factors and neurodevelopment at 12 month of age was also calculated using logistic regression models. Seventy children completed the follow-up. At 12 months of age, 14% had an abnormal neurological examination, and 17% abnormal development. The neurological examination and the cranial ultrasound at term had low sensitivity to predict abnormal neurodevelopment. At 12 months, 93% of newborns with normal AT showed normal neurological results, and 86% normal development. Among newborns with normal cranial ultrasound the percentages were 90 and 81%, respectively. Among children with three or more perinatal risk factors, the frequency of abnormalities in the neurological response was 5.4 times higher than among those with fewer risk factors, and abnormal development was 3.5 times more frequent. The neurological examination and cranial ultrasound at term had low sensitivity but high negative predictive value for the neurodevelopment at 12 months. Three or more perinatal risk factors were associated with neurodevelopment abnormalities at 12 months of age. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  16. Parent development in clinical child neurological assessment process: encounters with the assimilation model.

    PubMed

    Tikkanen, Soile; Stiles, William B; Leiman, Mikael

    2011-09-01

    Child neurological diagnostic procedures involve extensive encounters with a multi-professional team and may have therapeutic effects. This study explored the therapeutic potential of the diagnostic process using the assimilation model as the conceptual frame of reference. The process of assimilation was tracked across nine consecutive encounters during the assessment of a 4-year-old girl who was referred to the child neurological team due to contact and communication problems. All parent-professional dialogues were transcribed and analyzed using dialogical sequence analysis, which yielded a core problematic reciprocal pattern that was named "controlling in relation to defiant and uncontrolled." Parent development in finding alternative patterns to excessive control was traced using the assimilation model. We could identify assimilation stages in parent development, from disowning the impact of their own actions and mainly seeing the problem as belonging to the child into a more flexible and self-related understanding of the problem. The parents also described more accommodating ways of managing the child at the follow-up. Benefits and limitations in applying the assimilation model in a non-therapy context are discussed.

  17. Normal development of the female reproductive system

    EPA Science Inventory

    The embryonic development of the female reproductive system involves a progression of events that is conserved across vertebrate species. The early gonad progresses from a form that is undifferentiated in both genotypic males and females. Rudimentary male (Wolffian) and female (M...

  18. Normal development of the female reproductive system

    EPA Science Inventory

    The embryonic development of the female reproductive system involves a progression of events that is conserved across vertebrate species. The early gonad progresses from a form that is undifferentiated in both genotypic males and females. Rudimentary male (Wolffian) and female (M...

  19. The development of normal fear: a review.

    PubMed

    Marks, I

    1987-09-01

    This review synthesizes literature on how human and other mammalian young develop fear. After an early attachment period there is a rise and fall of certain fears in an ontogenetic sequence. Observation and experiment show how experiential, maturational and genetic factors interact in fears of heights, novelty, strangers and separation.

  20. Development and implementation of a quality improvement curriculum for child neurology residents: lessons learned.

    PubMed

    Maski, Kiran P; Loddenkemper, Tobias; An, Sookee; Allred, Elizabeth N; Urion, David K; Leviton, Alan

    2014-05-01

    Quality improvement is a major component of the Accreditation Council for Graduate Medical Education core competencies required of all medical trainees. Currently, neither the Neurology Residency Review Committee nor the Accreditation Council for Graduate Medical Education defines the process by which this competency should be taught and assessed. We developed a quality improvement curriculum that provides mentorship for resident quality improvement projects and is clinically relevant to pediatric neurologists. Before and after implementation of the quality improvement curriculum, a 14-item survey assessed resident comfort with quality improvement project skills and attitudes about implementation of quality improvement in clinical practice using a 5-point Likert scale. We used the Kruskal-Wallis and Fisher exact tests to evaluate pre to post changes. Residents' gained confidence in their abilities to identify measures (P = 0.02) and perform root cause analysis (P = 0.02). Overall, 73% of residents were satisfied or very satisfied with the quality improvement curriculum. Our child neurology quality improvement curriculum was well accepted by trainees. We report the details of this curriculum and its impact on residents and discuss its potential to meet the Accreditation Council for Graduate Medical Education's Next Accreditation System requirements. Published by Elsevier Inc.

  1. Measuring Stigma Across Neurological Conditions: The Development of the Stigma Scale for Chronic Illness (SSCI)

    PubMed Central

    Rao, Deepa; Choi, Seung W.; Victorson, David; Bode, Rita; Peterman, Amy; Heinemann, Allen; Cella, David

    2010-01-01

    Purpose Most measures of stigma are illness-specific and do not allow for comparisons across conditions. As part of a study of health-related quality of life for people with neurological disorders, our team developed an instrument to assess the stigma for people with chronic illnesses. Methods We based item content on literature review, responses from focus groups, and cognitive interviews. We then administered the items to people with neurological disorders for psychometric testing. Results Five hundred and eleven participants completed items of the stigma scale. Exploratory factor analysis produced 2 factors that were highly correlated (r = 0.81). Confirmatory factor analysis produced high standardized loadings on an overall stigma factor (0.68 to 0.94), with poorer loadings on the two sub-domains (−0.12 to 0.53). These results demonstrated a sufficiently unidimensional scale that corresponded with the bifactor model. Item response theory modeling suggested good model fit, and differential item functioning analyses indicated that the 24-item scale showed potential for measurement equivalence across conditions. Conclusions Our efforts produced a stigma scale that had promising psychometric properties. Further study can provide additional information about the SSCI and its benefit in measuring the impact of stigma across conditions. PMID:19396572

  2. Measuring stigma across neurological conditions: the development of the stigma scale for chronic illness (SSCI).

    PubMed

    Rao, Deepa; Choi, Seung W; Victorson, David; Bode, Rita; Peterman, Amy; Heinemann, Allen; Cella, David

    2009-06-01

    Most measures of stigma are illness specific and do not allow for comparisons across conditions. As part of a study of health-related quality of life for people with neurological disorders, our team developed an instrument to assess the stigma for people with chronic illnesses. We based item content on literature review, responses from focus groups, and cognitive interviews. We then administered the items to people with neurological disorders for psychometric testing. Five hundred eleven participants completed items of the stigma scale. Exploratory factor analysis produced two factors that were highly correlated (r = 0.81). Confirmatory factor analysis produced high standardized loadings on an overall stigma factor (0.68-0.94), with poorer loadings on the two sub-domains (-0.12 to 0.53). These results demonstrated a sufficiently unidimensional scale that corresponded with the bifactor model. Item response theory modeling suggested good model fit, and differential item functioning analyses indicated that the 24-item scale showed potential for measurement equivalence across conditions. Our efforts produced a stigma scale that had promising psychometric properties. Further study can provide additional information about the SSCI and its benefit in measuring the impact of stigma across conditions.

  3. Annotation: Development of Facial Expression Recognition from Childhood to Adolescence--Behavioural and Neurological Perspectives

    ERIC Educational Resources Information Center

    Herba, Catherine; Phillips, Mary

    2004-01-01

    Background: Intact emotion processing is critical for normal emotional development. Recent advances in neuroimaging have facilitated the examination of brain development, and have allowed for the exploration of the relationships between the development of emotion processing abilities, and that of associated neural systems. Methods: A literature…

  4. Annotation: Development of Facial Expression Recognition from Childhood to Adolescence--Behavioural and Neurological Perspectives

    ERIC Educational Resources Information Center

    Herba, Catherine; Phillips, Mary

    2004-01-01

    Background: Intact emotion processing is critical for normal emotional development. Recent advances in neuroimaging have facilitated the examination of brain development, and have allowed for the exploration of the relationships between the development of emotion processing abilities, and that of associated neural systems. Methods: A literature…

  5. Sports neurology topics in neurologic practice

    PubMed Central

    Conidi, Francis X.; Drogan, Oksana; Giza, Christopher C.; Kutcher, Jeffery S.; Alessi, Anthony G.; Crutchfield, Kevin E.

    2014-01-01

    Summary We sought to assess neurologists' interest in sports neurology and learn about their experience in treating sports-related neurologic conditions. A survey was sent to a random sample of American Academy of Neurology members. A majority of members (77%) see at least some patients with sports-related neurologic issues. Concussion is the most common sports-related condition neurologists treat. More than half of survey participants (63%) did not receive any formal or informal training in sports neurology. At least two-thirds of respondents think it is very important to address the following issues: developing evidence-based return-to-play guidelines, identifying risk factors for long-term cognitive-behavioral sequelae, and developing objective diagnostic criteria for concussion. Our findings provide an up-to-date view of the subspecialty of sports neurology and identify areas for future research. PMID:24790800

  6. Development of a Kinect-based exergaming system for motor rehabilitation in neurological disorders

    NASA Astrophysics Data System (ADS)

    Estepa, A.; Sponton Piriz, S.; Albornoz, E.; Martínez, C.

    2016-04-01

    The development of videogames for physical therapy, known as exergames, has gained much interest in the last years. In this work, a sytem for rehabilitation and clinical evaluation of neurological patients is presented. The Microsoft Kinect device is used to track the full body of patients, and three games were developed to exercise and assess different aspects of balance and gait rehabilitation. The system provides visual feedback by means of an avatar that follows the movements of the patients, and sound and visual stimuli for giving orders during the experience. Also, the system includes a database and management tools for further analysis and monitoring of therapies. The results obtained show, on the one side, a great reception and interest of patients to use the system. On the other side, the specialists considered very useful the data collected and the quantitative analysis provided by the system, which was then adopted for the clinical routine.

  7. Adolescent brain development in normality and psychopathology.

    PubMed

    Luciana, Monica

    2013-11-01

    Since this journal's inception, the field of adolescent brain development has flourished, as researchers have investigated the underpinnings of adolescent risk-taking behaviors. Explanations based on translational models initially attributed such behaviors to executive control deficiencies and poor frontal lobe function. This conclusion was bolstered by evidence that the prefrontal cortex and its interconnections are among the last brain regions to structurally and functionally mature. As substantial heterogeneity of prefrontal function was revealed, applications of neuroeconomic theory to adolescent development led to dual systems models of behavior. Current epidemiological trends, behavioral observations, and functional magnetic resonance imaging based brain activity patterns suggest a quadratic increase in limbically mediated incentive motivation from childhood to adolescence and a decline thereafter. This elevation occurs in the context of immature prefrontal function, so motivational strivings may be difficult to regulate. Theoretical models explain this patterning through brain-based accounts of subcortical-cortical integration, puberty-based models of adolescent sensation seeking, and neurochemical dynamics. Empirically sound tests of these mechanisms, as well as investigations of biology-context interactions, represent the field's most challenging future goals, so that applications to psychopathology can be refined and so that developmental cascades that incorporate neurobiological variables can be modeled.

  8. Adolescent brain development in normality and psychopathology

    PubMed Central

    LUCIANA, MONICA

    2014-01-01

    Since this journal’s inception, the field of adolescent brain development has flourished, as researchers have investigated the underpinnings of adolescent risk-taking behaviors. Explanations based on translational models initially attributed such behaviors to executive control deficiencies and poor frontal lobe function. This conclusion was bolstered by evidence that the prefrontal cortex and its interconnections are among the last brain regions to structurally and functionally mature. As substantial heterogeneity of prefrontal function was revealed, applications of neuroeconomic theory to adolescent development led to dual systems models of behavior. Current epidemiological trends, behavioral observations, and functional magnetic resonance imaging based brain activity patterns suggest a quadratic increase in limbically mediated incentive motivation from childhood to adolescence and a decline thereafter. This elevation occurs in the context of immature prefrontal function, so motivational strivings may be difficult to regulate. Theoretical models explain this patterning through brain-based accounts of subcortical–cortical integration, puberty-based models of adolescent sensation seeking, and neurochemical dynamics. Empirically sound tests of these mechanisms, as well as investigations of biology–context interactions, represent the field’s most challenging future goals, so that applications to psychopathology can be refined and so that developmental cascades that incorporate neurobiological variables can be modeled. PMID:24342843

  9. Impact of maternal diet on human milk composition and neurological development of infants.

    PubMed

    Innis, Sheila M

    2014-03-01

    Maternal nutrition has little or no effect on many nutrients in human milk; for others, human milk may not be designed as a primary nutritional source for the infant; and for a few, maternal nutrition can lead to substantial variations in human milk quality. Human milk fatty acids are among the nutrients that show extreme sensitivity to maternal nutrition and are implicated in neurological development. Extensive development occurs in the infant brain, with growth from ∼ 350 g at birth to 925 g at 1 y, with this growth including extensive dendritic and axonal arborization. Transfer of n-6 (omega-6) and n-3 (omega-3) fatty acids from the maternal diet into human milk occurs with little interconversion of 18:2n-6 to 20:4n-6 or 18:3n-3 to docosahexaenoic acid (DHA) and little evidence of mammary gland regulation to maintain individual fatty acids constant with varying maternal fatty acid nutrition. DHA has gained attention because of its high concentrations and roles in the brain and retina. Studies addressing DHA intakes by lactating women or human milk amounts of DHA at levels above those typical in the United States and Canada on infant outcomes are inconsistent. However, separating effects of the fatty acid supply in gestation or in the weaning diet from effects on neurodevelopment solely due to human milk fatty acids is complex, particularly when neurodevelopment is assessed after the period of exclusive human milk feeding. Information on infant fatty acid intakes, including milk volume consumed and energy density, will aid in understanding of the human milk fatty acids that best support neurological development.

  10. [The child's brain: normal (unaltered) development and development altered by perinatal injury].

    PubMed

    Marín-Padilla, Miguel

    2013-09-06

    In this study we analyse some of the morphological and functional aspects of normal and altered development (the latter due to perinatal injury) in the child's brain. Both normal and altered development are developmental processes that progressively interconnect the different regions. The neuropathological development of subpial and periventricular haemorrhages, as well as that of white matter infarct, are analysed in detail. Any kind of brain damage causes a local lesion with possible remote repercussions. All the components (neurons, fibres, blood capillaries and neuroglias) of the affected region undergo alterations. Those that are destroyed are eliminated by the inflammatory process and those that survive are transformed. The pyramidal neurons with amputated apical dendrites are transformed and become stellate cells, the axonal terminals and those of the radial glial cells are regenerated and the region involved is reinnervated and revascularised with an altered morphology and function (altered local corticogenesis). The specific microvascular system of the grey matter protects its neurons from infarction of the white matter. Although it survives, the grey matter is left disconnected from the afferent and efferent fibres, amputated by the infarct with alterations affecting its morphology and possibly its functioning (altered local corticogenesis). Any local lesion can modify the morphological and functional development of remote regions that are functionally interconnected with it (altered remote corticogenesis). We suggest that any local brain injury can alter the morphology and functioning of the regions that are morphologically and functionally interconnected with it and thus end up affecting the child's neurological and psychological development. These changes can cross different regions of the brain (epileptic auras) and, if they eventually reach the motor region, will give rise to the motor storm that characterises epilepsy.

  11. [Service portfolio in neurology].

    PubMed

    Jiménez, M D

    2003-12-01

    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.

  12. ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.

    PubMed

    Gadomski, Therese E; Bolton, Melody; Alfadhel, Majid; Dvorak, Chris; Ogunsakin, Olalekan A; Nelson, Stephen L; Morava, Eva

    2017-10-01

    ALG13-CDG has been recently discovered as a disorder of severe developmental, intellectual and speech disability, microcephaly, visual abnormalities, seizures, hepatomegaly, coagulation abnormalities, and abnormal serumtransferrin isoelectric focusing in serum. A male with seizures, delayed motor, and speech development, but normal cognition carried a hemizygous, predicted pathogenic ALG13 variant (p.E463G). N-glycosylation studies in plasma were normal. ICAM-1 expression was decreased in patient fibroblasts, supporting the variant's pathogenicity. Adding D-galactose to the patient's fibroblast culture increased ICAM-1 expression in vitro, offering a potential treatment option in ALG13-CDG. The present report is a new example for an N-glycosylation disorder, that may present with normal transferrin isoform analysis, and also demonstrates, that CDG type I patients can have normal cognitive development. © 2017 Wiley Periodicals, Inc.

  13. Knockout of G protein β5 impairs brain development and causes multiple neurologic abnormalities in mice

    PubMed Central

    Zhang, Jian-Hua; Pandey, Mritunjay; Seigneur, Erica M.; Panicker, Leelamma M.; Koo, Lily; Schwartz, Owen M.; Chen, Weiping; Chen, Ching-Kang; Simonds, William F.

    2011-01-01

    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

  14. Seizures and antiepileptic drugs: does exposure alter normal brain development?

    PubMed

    Marsh, Eric D; Brooks-Kayal, Amy R; Porter, Brenda E

    2006-12-01

    Seizures and antiepileptic drugs (AEDs) affect brain development and have long-term neurological consequences. The specific molecular and cellular changes, the precise timing of their influence during brain development, and the full extent of the long-term consequences of seizures and AEDs exposure have not been established. This review critically assesses both the basic and clinical science literature on the effects of seizures and AEDs on the developing brain and finds that evidence exists to support the hypothesis that both seizures and antiepileptic drugs influence a variety of biological process, at specific times during development, which alter long-term cognition and epilepsy susceptibility. More research, both clinical and experimental, is needed before changes in current clinical practice, based on the scientific data, can be recommended.

  15. Annotation: Development of facial expression recognition from childhood to adolescence: behavioural and neurological perspectives.

    PubMed

    Herba, Catherine; Phillips, Mary

    2004-10-01

    Intact emotion processing is critical for normal emotional development. Recent advances in neuroimaging have facilitated the examination of brain development, and have allowed for the exploration of the relationships between the development of emotion processing abilities, and that of associated neural systems. A literature review was performed of published studies examining the development of emotion expression recognition in normal children and psychiatric populations, and of the development of neural systems important for emotion processing. Few studies have explored the development of emotion expression recognition throughout childhood and adolescence. Behavioural studies suggest continued development throughout childhood and adolescence (reflected by accuracy scores and speed of processing), which varies according to the category of emotion displayed. Factors such as sex, socio-economic status, and verbal ability may also affect this development. Functional neuroimaging studies in adults highlight the role of the amygdala in emotion processing. Results of the few neuroimaging studies in children have focused on the role of the amygdala in the recognition of fearful expressions. Although results are inconsistent, they provide evidence throughout childhood and adolescence for the continued development of and sex differences in amygdalar function in response to fearful expressions. Studies exploring emotion expression recognition in psychiatric populations of children and adolescents suggest deficits that are specific to the type of disorder and to the emotion displayed. Results from behavioural and neuroimaging studies indicate continued development of emotion expression recognition and neural regions important for this process throughout childhood and adolescence. Methodological inconsistencies and disparate findings make any conclusion difficult, however. Further studies are required examining the relationship between the development of emotion expression

  16. Developing Visualization Support System for Teaching/Learning Database Normalization

    ERIC Educational Resources Information Center

    Folorunso, Olusegun; Akinwale, AdioTaofeek

    2010-01-01

    Purpose: In tertiary institution, some students find it hard to learn database design theory, in particular, database normalization. The purpose of this paper is to develop a visualization tool to give students an interactive hands-on experience in database normalization process. Design/methodology/approach: The model-view-controller architecture…

  17. Developing Visualization Support System for Teaching/Learning Database Normalization

    ERIC Educational Resources Information Center

    Folorunso, Olusegun; Akinwale, AdioTaofeek

    2010-01-01

    Purpose: In tertiary institution, some students find it hard to learn database design theory, in particular, database normalization. The purpose of this paper is to develop a visualization tool to give students an interactive hands-on experience in database normalization process. Design/methodology/approach: The model-view-controller architecture…

  18. Neurology and neurologic practice in China

    PubMed Central

    2011-01-01

    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. PMID:22123780

  19. Neurology and neurologic practice in China.

    PubMed

    Shi, Fu-Dong; Jia, Jian-Ping

    2011-11-29

    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.

  20. The development of encapsulated cell technologies as therapies for neurological and sensory diseases.

    PubMed

    Zanin, M P; Pettingill, L N; Harvey, A R; Emerich, D F; Thanos, C G; Shepherd, R K

    2012-05-30

    Cell encapsulation therapies involve the implantation of cells that secrete a therapeutic factor to provide clinical benefits. The transplanted cells are protected from immunorejection via encapsulation in a semipermeable membrane. This treatment strategy was originally investigated as a method for protecting pancreatic islets from immunorejection, thus allowing them to secrete insulin as a chronic treatment for diabetes. Since then a significant body of work has been conducted in developing cell encapsulation therapies to treat a variety of different diseases. Many of these conditions involve neurodegeneration, such as Alzheimer's and Parkinson's disease, as cell encapsulation therapies have proven to be particularly suitable for delivering therapeutics to the central nervous system. This is mainly because they offer chronic delivery of a therapeutic and can be implanted proximal to the affected tissue, bypassing the blood brain barrier, which is impermeable to many agents. Whilst these therapies are not yet widely available in the clinic, promising results have been obtained in several advanced clinical trials and further developmental work is currently underway. This review specifically examines the development of encapsulated cell therapies as treatments for neurological and sensory diseases and evaluates the challenges that are yet to be overcome before they can be made available for clinical use.

  1. Neurologic development of children with severe chronic renal failure from infancy.

    PubMed

    Polinsky, M S; Kaiser, B A; Stover, J B; Frankenfield, M; Baluarte, H J

    1987-04-01

    A literature review was conducted to summarize current understanding of the effects of severe chronic renal failure (CRF), when present from infancy, on neurologic development. Data were obtained from the results of 95 examinations performed in 85 patients, most of whom had been studied after 12 months of age, or following initiation of maintenance dialysis or successful transplantation. CRF was diagnosed at birth or during the neonatal period in 71.7% of these patients; serum creatinine concentrations or calculated clearances were greater than or equal to 2.0 mg/dl (177 mumol/l) or less than 15 ml/min per 1.73 m2, respectively, in 75.8%. Head circumferences were greater than 2 standard deviations below the mean for age in 33 of 51 (64.7%) patients. Developmental delay was identified in 63.2% of all cases, and in 29 of 48 (60.4%), 16 of 19 (84.2%), and 4 of 13 (30.7%) patients studied while receiving conservative management or maintenance dialysis, or following successful transplantation, respectively. Moderate to severe delays were commoner for gross motor and language development. No significant relationships could be identified between age or severity of CRF at diagnosis and either the prevalence or severity of developmental delay. Other factors that may have contributed to observed developmental delays are also discussed, including aluminum loading, hyperparathyroidism, undernutrition, and psychosocial problems. New data are presented and discussed, and recommendations for future studies provided.

  2. Minor neurological dysfunction, cognitive development, and somatic development at the age of 3 to 7 years after dexamethasone treatment in very-low birth-weight infants.

    PubMed

    Kutschera, J; Tomaselli, J; Maurer, U; Mueller, W; Urlesberger, B

    2005-03-01

    The objective of this study was to assess minor neurological dysfunction, cognitive development, and somatic development after dexamethasone therapy in very-low-birthweight infants. Thirty-three children after dexamethasone treatment were matched to 33 children without dexamethasone treatment. Data were assessed at the age of 3-7 years. Dexamethasone was started between the 7th and the 28th day of life over 7 days with a total dose of 2.35 mg/kg/day. Exclusion criteria were asphyxia, malformations, major surgical interventions, small for gestational age, intraventricular haemorrhage grades III and IV, periventricular leukomalacia, and severe psychomotor retardation. Each child was examined by a neuropediatrician for minor neurological dysfunctions and tested by a psychologist for cognitive development with a Kaufman Assessment Battery for Children and a Draw-a-Man Test. There were no differences in demographic data, growth, and socio-economic status between the two groups. Fine motor skills and gross motor function were significantly better in the control group (p<0.01). In the Draw-a-Man Test, the control group showed better results (p<0.001). There were no differences in development of speech, social development, and the Kaufman Assessment Battery for Children. After dexamethasone treatment, children showed a higher rate of minor neurological dysfunctions. Neurological development was affected even without neurological diagnosis. Further long-term follow-up studies will be necessary to fully evaluate the impact of dexamethasone on neurological and cognitive development.

  3. Achondrogenesis type II with normally developed extremities: a case report.

    PubMed

    Kocakoc, Ercan; Kiris, Adem

    2002-07-01

    We present a case of achondrogenesis type II with normally developed extremities that was confirmed with postmortem ultrasonographic and radiographic examination. The length of the long bones may vary and the diagnosis of achondrogenesis should not be ruled out with normally developed extremities. Intrauterine sonographic examination of the vertebrae is very important and the absence of vertebral body ossification may be the unique finding of achondrogenesis type II. Axial ultrasonographic images and postmortem plain radiographs are useful to clarify the pathology.

  4. Ultrasonic investigations of brain in infants with some neurological diseases

    NASA Astrophysics Data System (ADS)

    Ulezko, E. A.; Shan'ko, G. G.

    1996-05-01

    The authors have studied 197 infants (1-12 months old) with normal psychomotor development and with various neurological disturbances. Neurosonography and dopplerometry were used to investigate the blood flow pattern and structural changes in the brain.

  5. The crystal structure of human GlnRS provides basis for the development of neurological disorders

    PubMed Central

    Ognjenović, Jana; Wu, Jiang; Matthies, Doreen; Baxa, Ulrich; Subramaniam, Sriram; Ling, Jiqiang; Simonović, Miljan

    2016-01-01

    Cytosolic glutaminyl-tRNA synthetase (GlnRS) is the singular enzyme responsible for translation of glutamine codons. Compound heterozygous mutations in GlnRS cause severe brain disorders by a poorly understood mechanism. Herein, we present crystal structures of the wild type and two pathological mutants of human GlnRS, which reveal, for the first time, the domain organization of the intact enzyme and the structure of the functionally important N-terminal domain (NTD). Pathological mutations mapping in the NTD alter the domain structure, and decrease catalytic activity and stability of GlnRS, whereas missense mutations in the catalytic domain induce misfolding of the enzyme. Our results suggest that the reduced catalytic efficiency and a propensity of GlnRS mutants to misfold trigger the disease development. This report broadens the spectrum of brain pathologies elicited by protein misfolding and provides a paradigm for understanding the role of mutations in aminoacyl-tRNA synthetases in neurological diseases. PMID:26869582

  6. The crystal structure of human GlnRS provides basis for the development of neurological disorders

    SciTech Connect

    Ognjenovic, Jana; Wu, Jiang; Matthies, Doreen; Baxa, Ulrich; Subramaniam, Sriram; Ling, Jiqiang; Simonovic, Miljan

    2016-02-10

    Cytosolic glutaminyl-tRNA synthetase (GlnRS) is the singular enzyme responsible for translation of glutamine codons. Compound heterozygous mutations in GlnRS cause severe brain disorders by a poorly understood mechanism. Herein, we present crystal structures of the wild type and two pathological mutants of human GlnRS, which reveal, for the first time, the domain organization of the intact enzyme and the structure of the functionally important N-terminal domain (NTD). Pathological mutations mapping in the NTD alter the domain structure, and decrease catalytic activity and stability of GlnRS, whereas missense mutations in the catalytic domain induce misfolding of the enzyme. Our results suggest that the reduced catalytic efficiency and a propensity of GlnRS mutants to misfold trigger the disease development. As a result, this report broadens the spectrum of brain pathologies elicited by protein misfolding and provides a paradigm for understanding the role of mutations in aminoacyl-tRNA synthetases in neurological diseases. Keywords

  7. The crystal structure of human GlnRS provides basis for the development of neurological disorders

    DOE PAGES

    Ognjenovic, Jana; Wu, Jiang; Matthies, Doreen; ...

    2016-02-10

    Cytosolic glutaminyl-tRNA synthetase (GlnRS) is the singular enzyme responsible for translation of glutamine codons. Compound heterozygous mutations in GlnRS cause severe brain disorders by a poorly understood mechanism. Herein, we present crystal structures of the wild type and two pathological mutants of human GlnRS, which reveal, for the first time, the domain organization of the intact enzyme and the structure of the functionally important N-terminal domain (NTD). Pathological mutations mapping in the NTD alter the domain structure, and decrease catalytic activity and stability of GlnRS, whereas missense mutations in the catalytic domain induce misfolding of the enzyme. Our results suggestmore » that the reduced catalytic efficiency and a propensity of GlnRS mutants to misfold trigger the disease development. As a result, this report broadens the spectrum of brain pathologies elicited by protein misfolding and provides a paradigm for understanding the role of mutations in aminoacyl-tRNA synthetases in neurological diseases. Keywords« less

  8. Impact of endocrine-disrupting chemicals on neural development and the onset of neurological disorders.

    PubMed

    Kajta, Małgorzata; Wójtowicz, Anna K

    2013-01-01

    Even though high doses of organic pollutants are toxic, relatively low concentrations have been reported to cause long-term alterations in functioning of individual organisms, populations and even next generations. Among these pollutants are dioxins, polychlorinated biphenyls, pesticides, brominated flame retardants, plasticizers (bisphenol A, nonylphenol, and phthalates) as well as personal care products and drugs. In addition to toxic effects, they are able to interfere with hormone receptors, hormone synthesis or hormone conversion. Because these chemicals alter hormone-dependent processes and disrupt functioning of the endocrine glands, they have been classified as endocrine-disrupting chemicals (EDCs). Because certain EDCs are able to alter neural transmission and the formation of neural networks, the term neural-disrupting chemicals has been introduced, thus implicating EDCs in the etiology of neurological disorders. Recently, public concern has been focused on the effects of EDCs on brain function, concomitantly with an increase in neuropsychiatric disorders, including autism, attention deficit and hyperactivity disorder as well as learning disabilities and aggressiveness. Several lines of evidence suggest that exposure to EDCs is associated with depression and could result in neural degeneration. EDCs act via several classes of receptors with the best documented mechanisms being reported for nuclear steroid and xenobiotic receptors. Low doses of EDCs have been postulated to cause incomplete methylation of specific gene regions in the young brain and to impair neural development and brain functions across generations. Efforts are needed to develop systematic epidemiological studies and to investigate the mechanisms of action of EDCs in order to fully understand their effects on wildlife and humans.

  9. Analysis of Preplate Splitting and Early Cortical Development Illuminates the Biology of Neurological Disease

    PubMed Central

    Olson, Eric C.

    2014-01-01

    The development of the layered cerebral cortex starts with a process called preplate splitting. Preplate splitting involves the establishment of prospective cortical layer 6 (L6) neurons within a plexus of pioneer neurons called the preplate. The forming layer 6 splits the preplate into a superficial layer of pioneer neurons called the marginal zone and a deeper layer of pioneer neurons called the subplate. Disruptions of this early developmental event by toxin exposure or mutation are associated with neurological disease including severe intellectual disability. This review explores recent findings that reveal the dynamism of gene expression and morphological differentiation during this early developmental period. Over 1000 genes show expression increases of ≥2-fold during this period in differentiating mouse L6 neurons. Surprisingly, 88% of previously identified non-syndromic intellectual-disability (NS-ID) genes are expressed at this time and show an average expression increase of 1.6-fold in these differentiating L6 neurons. This changing genetic program must, in part, support the dramatic cellular reorganizations that occur during preplate splitting. While different models have been proposed for the formation of a layer of L6 cortical neurons within the preplate, original histological studies and more recent work exploiting transgenic mice suggest that the process is largely driven by the coordinated polarization and coalescence of L6 neurons rather than by cellular translocation or migration. The observation that genes associated with forms of NS-ID are expressed during very early cortical development raises the possibility of studying the relevant biological events at a time point when the cortex is small, contains relatively few cell types, and few functional circuits. This review then outlines how explant models may prove particularly useful in studying the consequence of toxin and mutation on the etiology of some forms of NS-ID. PMID:25426475

  10. Current neurology

    SciTech Connect

    Appel, S.H. )

    1988-01-01

    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.

  11. Iatrogenic neurology.

    PubMed

    Sposato, Luciano A; Fustinoni, Osvaldo

    2014-01-01

    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.

  12. Clinical neurologic indices of toxicity in animals.

    PubMed Central

    O'Donoghue, J L

    1996-01-01

    The fundamental structures and functions of the nervous systems of animals and humans are conserved in many ways across species. These similarities provide a basis for developing common neurologic examinations for a number of species of animals and also provide a basis for developing risk assessments across species for neurologic end points. The neurologic examination requires no expensive equipment and can be conducted in the field or wherever impaired animals are identified. The proper conduct of neurologic examinations in animals assumes that the examiner has a fundamental understanding of the normal structure and function of the nervous system as well as knowledge about the spontaneous disease background of the species being studied. PMID:9182039

  13. The Preoperative Neurological Evaluation

    PubMed Central

    Probasco, John; Sahin, Bogachan; Tran, Tung; Chung, Tae Hwan; Rosenthal, Liana Shapiro; Mari, Zoltan; Levy, Michael

    2013-01-01

    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

  14. [Effect of work conditions on the development of vertebral neurologic disorders].

    PubMed

    Lagutina, G N; Tarasova, L A; Suvorov, G A; Shardakova, E F

    1994-01-01

    Clinical and hygienic studies covered agricultural machine operators, bulldozer operators, truck drivers, excavator and boring machine operators, display terminal controllers, electronic miniature device assemblers. The studies proved that occupational hazards (general vibration, sitting posture) result in formation of vertebral neurologic disorders in the examinees. The localization and clinical manifestations appeared to depend on intensity and site of the acting hazard.

  15. Hypoxic Adaptation during Development: Relation to Pattern of Neurological Presentation and Cognitive Disability

    ERIC Educational Resources Information Center

    Kirkham, Fenella J.; Datta, Avijit K.

    2006-01-01

    Children with acute hypoxic-ischaemic events (e.g. stroke) and chronic neurological conditions associated with hypoxia frequently present to paediatric neurologists. Failure to adapt to hypoxia may be a common pathophysiological pathway linking a number of other conditions of childhood with cognitive deficit. There is evidence that congenital…

  16. Hypoxic Adaptation during Development: Relation to Pattern of Neurological Presentation and Cognitive Disability

    ERIC Educational Resources Information Center

    Kirkham, Fenella J.; Datta, Avijit K.

    2006-01-01

    Children with acute hypoxic-ischaemic events (e.g. stroke) and chronic neurological conditions associated with hypoxia frequently present to paediatric neurologists. Failure to adapt to hypoxia may be a common pathophysiological pathway linking a number of other conditions of childhood with cognitive deficit. There is evidence that congenital…

  17. Childhood Depression Viewed as Normal Development Gone Awry.

    ERIC Educational Resources Information Center

    Wenar, Charles

    Childhood psychopathology can be viewed as normal development gone awry. The key to the mysteries of masked depression and of depression in the infant/toddler period and in middle childhood lies in the concept of loss. Children who experience the loss of a loved parent or caretaker through that person's death may evidence a variety of behaviors…

  18. Development of Phonetic Memory in Disabled and Normal Readers.

    ERIC Educational Resources Information Center

    Olson, Richard K.; And Others

    1984-01-01

    Tests the development of phonetic codes in the memory of 141 pairs of normal and disabled readers from 7.8 to 16.8 years of age. The measurement task assessed false-positive errors in recognition memory for foil words that rhymed with words in a memory list versus foil words that did not rhyme. (Author/CI)

  19. Development of learning objectives for neurology in a veterinary curriculum: part II: postgraduates.

    PubMed

    Lin, Yu-Wei; Volk, Holger A; Penderis, Jacques; Anderson, Thomas J; Añor, Sonia; Lujan-Feliu-Pascual, Alejandro; Stein, Veronika M; Tipold, Andrea; Ehlers, Jan P

    2015-01-27

    Specialization in veterinary medicine in Europe is organized through the Colleges of the European Board of Veterinary Specialization. To inform updating of the curriculum for residents of the European College of Veterinary Neurology (ECVN) job analysis was used. Defining job competencies of diploma holders in veterinary neurology can be used as references for curriculum design of resident training. With the support of the diplomates of the ECVN and the members of the European Society of Veterinary Neurology (ESVN) a mixed-method research, including a qualitative search of objectives and quantitative ranking with 149 Likert scale questions and 48 free text questions in 9 categories in a survey was conducted. In addition, opinions of different groups were subjected to statistical analysis and the result compared. A return rate of 62% (n = 213/341) was achieved. Of the competencies identified by the Delphi process, 75% objectives were expected to attain expert level; 24% attain advanced level; 1% entry level. In addition, the exercise described the 11 highly ranked competencies, the 3 most frequently seen diseases of the central and peripheral nervous systems and the most frequently used immunosuppressive, antiepileptic and chemotherapeutic drugs. The outcomes of this "Delphi job analysis" provide a powerful tool to align the curriculum for ECVN resident training and can be adapted to the required job competencies, based on expectations. The expectation is that for majority of these competencies diplomates should attain an expert level. Besides knowledge and clinical skills, residents and diplomates are expected to demonstrate high standards in teaching and communication. The results of this study will help to create a European curriculum for postgraduate education in veterinary neurology.

  20. Dendritic transport of tick-borne flavivirus RNA by neuronal granules affects development of neurological disease.

    PubMed

    Hirano, Minato; Muto, Memi; Sakai, Mizuki; Kondo, Hirofumi; Kobayashi, Shintaro; Kariwa, Hiroaki; Yoshii, Kentaro

    2017-09-12

    Neurological diseases caused by encephalitic flaviviruses are severe and associated with high levels of mortality. However, little is known about the detailed mechanisms of viral replication and pathogenicity in the brain. Previously, we reported that the genomic RNA of tick-borne encephalitis virus (TBEV), a member of the genus Flavivirus, is transported and replicated in the dendrites of neurons. In the present study, we analyzed the transport mechanism of the viral genome to dendrites. We identified specific sequences of the 5' untranslated region of TBEV genomic RNA that act as a cis-acting element for RNA transport. Mutated TBEV with impaired RNA transport in dendrites caused a reduction in neurological symptoms in infected mice. We show that neuronal granules, which regulate the transport and local translation of dendritic mRNAs, are involved in TBEV genomic RNA transport. TBEV genomic RNA bound an RNA-binding protein of neuronal granules and disturbed the transport of dendritic mRNAs. These results demonstrated a neuropathogenic virus hijacking the neuronal granule system for the transport of viral genomic RNA in dendrites, resulting in severe neurological disease.

  1. Error-prone polyploid mitosis during normal Drosophila development

    PubMed Central

    Fox, Donald T.; Gall, Joseph G.; Spradling, Allan C.

    2010-01-01

    Endopolyploidy arises during normal development in many species when cells undergo endocycles—variant cell cycles in which DNA replicates but daughter cells do not form. Normally, polyploid cells do not divide mitotically after initiating endocycles; hence, little is known about their mitotic competence. However, polyploid cells are found in many tumors, and the enhanced chromosomal instability of polyploid cells in culture suggests that such cells contribute to tumor aneuploidy. Here, we describe a novel polyploid Drosophila cell type that undergoes normal mitotic cycles as part of a remodeling process that forms the adult rectal papillae. Similar polyploid mitotic divisions, but not depolyploidizing divisions, were observed during adult ileum development in the mosquito Culex pipiens. Extended anaphases, chromosome bridges, and lagging chromosomes were frequent during these polyploid divisions, despite normal expression of cell cycle regulators. Our results show that the switch to endocycles during development is not irreversible, but argue that the polyploid mitotic cycle is inherently error-prone, and that polyploid mitoses may help destabilize the cancer genome. PMID:20952538

  2. Development of a rehabilitation goal menu for inpatients with neurological disorders: application in a Saudi Arabian context.

    PubMed

    Al-Haidary, Hisham; Qannam, Hazem; Lam, Tania

    2015-10-01

    To develop a rehabilitation goal menu based on understanding the specific goals that are important to neurological inpatients and that fall within commonly identified rehabilitation domains. Qualitative methods (semi-structured interview, focus groups) to develop a goal menu followed by cross-sectional study to measure participants' goal rankings. Rehabilitation hospital in Saudi Arabia. A total of 130 participants with neurological injury. Participant rankings of rehabilitation goals and self-reported level of difficulty in areas such as mobility, self-care, accessibility, productivity, and leisure. A 10-item goal menu was developed based on initial focus groups, semi-structured interviews, and literature review. The overall highest ranked rehabilitation goal was Functional Mobility/Locomotion, followed by Self-Care and Religious/Life Philosophy. Self-reported level of difficulty with mobility was strongly associated with the ranking of Functional Mobility/Locomotion as a rehabilitation goal. However, there was little correspondence between reported difficulty and priority ranking of self-care. Subsequent factor analysis of detailed goal items suggest that the goal menu could be reduced to seven items. This study provided an understanding of which rehabilitation goals are important to Saudi clients with neurological disorders that could be used to facilitate their contribution to the goal-setting process. © The Author(s) 2014.

  3. MRI of normal and pathological fetal lung development.

    PubMed

    Kasprian, Gregor; Balassy, Csilla; Brugger, Peter C; Prayer, Daniela

    2006-02-01

    Normal fetal lung development is a complex process influenced by mechanical and many biochemical factors. In addition to ultrasound, fetal magnetic resonance imaging (MRI) constitutes a new method to investigate this process in vivo during the second and third trimester. The techniques of MRI volumetry, assessment of signal intensities, and MRI spectroscopy of the fetal lung have been used to analyze this process and have already been applied clinically to identify abnormal fetal lung growth. Particularly in conditions such as oligohydramnios and congenital diaphragmatic hernia (CDH), pulmonary hypoplasia may be the cause of neonatal death. A precise diagnosis and quantification of compromised fetal lung development may improve post- and perinatal management. The main events in fetal lung development are reviewed and MR volumetric data from 106 normal fetuses, as well as different examples of pathological lung growth, are provided.

  4. [40 years of neurological intensive care in Croatia].

    PubMed

    Barac, Bosko

    2013-01-01

    On the 40 year anniversary of the foundation of the first Neurological intensive therapy unit (ICU) in Zagreb, Croatia and in the region, the author recalls circumstances which stipulated its realization. The process lasted several years, from the proposal in 1968, starting working in provisional conditions in 1971--acquiring experience, and normal functioning in the newly adapted rooms in 1974. Paying tribute to personalities who supported and participated in the advances of this process, the author informs that at the First Congress of Intensive Care (London, 1974) his report on Zagreb Neurological intensive therapy unit was the only one in neurology. The basic principles of therapy are nowadays the standard in the neurological departments, enabling better recovery from stroke, neurological ailment with high mortality. Positive development brought to the realization of the concept of comprehensive care for cerebrovascular patients, including prevention, early intensive therapy and neurological restoration measures after stroke.

  5. Neurological assessment.

    PubMed

    Maher, Ann Butler

    2016-08-01

    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.

  6. The neurotechnological revolution: unlocking the brain's secrets to develop innovative technologies as well as treatments for neurological diseases.

    PubMed

    Banks, Jim

    2015-01-01

    The brain contains all that makes us human, but its complexity is the source of both inspiration and frailty. Aging population is increasingly in need of effective care and therapies for brain diseases, including stroke, Parkinson's disease and Alzheimer's disease. The world's scientific community working hard to unravel the secrets of the brain's computing power and to devise technologies that can heal it when it fails and restore critical functions to patients with neurological conditions. Neurotechnology is the emerging field that brings together the development of technologies to study the brain and devices that improve and repair brain function. What is certain is the momentum behind neurotechnological research is building, and whether through implants, BCIs, or innovative computational systems inspired by the human brain, more light will be shed on our most complex and most precious organ, which will no doubt lead to effective treatment for many neurological conditions.

  7. The discovery of human auditory-motor entrainment and its role in the development of neurologic music therapy.

    PubMed

    Thaut, Michael H

    2015-01-01

    The discovery of rhythmic auditory-motor entrainment in clinical populations was a historical breakthrough in demonstrating for the first time a neurological mechanism linking music to retraining brain and behavioral functions. Early pilot studies from this research center were followed up by a systematic line of research studying rhythmic auditory stimulation on motor therapies for stroke, Parkinson's disease, traumatic brain injury, cerebral palsy, and other movement disorders. The comprehensive effects on improving multiple aspects of motor control established the first neuroscience-based clinical method in music, which became the bedrock for the later development of neurologic music therapy. The discovery of entrainment fundamentally shifted and extended the view of the therapeutic properties of music from a psychosocially dominated view to a view using the structural elements of music to retrain motor control, speech and language function, and cognitive functions such as attention and memory. © 2015 Elsevier B.V. All rights reserved.

  8. Laboratory Simulation of Shear Band Development in Growth Normal Fault

    NASA Astrophysics Data System (ADS)

    Chu, Sheng-Shin; Lin, Ming-Lang

    2013-04-01

    According to the studies about active faults in metropolitan Taipei area, it has been indicated that Shanchiao Fault at the western rim of Taipei Basin is a highly active normal fault. Slip of the fault can cause deformation of shallower soil layers and lead to the destruction of infrastructures, residential building foundations and utility lines near the influenced area. It was interpreted that Shanchiao Fault is a growth normal fault based on geological drilling and dating information. Therefore in this study, a geological structure similar to growth normal fault (such as Shanchiao Fault) was constructed to simulate the slip induced ground deformation after an additional layer of sedimentation formed above the deformed normal fault. In this study, a sand box under gravity condition was formulated with non-cohesive sands in order to investigate the propagation of shear bands and surface deformation of a growth normal fault. With the presence of sedimentation layer on top of the deformed soil layer due to normal fault, the shear band developed along the previous shear band and propagated upward to the sand surface with a much faster speed comparing to the case when there is no sedimentation layer (i.e. normal fault only). The offset ratio of 1.3~1.5% (defines as the fault tip offset displacement over the thickness of soil layer) for this particular growth fault simulation is required in order to develop a shear band toward the ground surface. Based on the test results, it is concluded that if there is any seismic activity of Shanchiao Fault, with a smaller offset displacement from the fault tip, although the depositional thickness of the upper layer is very thick, the shear band could still be propagated to the ground surface and cause severe damages to the important facilities and infrastructure with Taipei Basin. Therefore, seismic design integrated with the knowledge of near-ground deformation characteristics due to this type of fault need to be emphasized in

  9. [Depression and neurological diseases].

    PubMed

    Piber, D; Hinkelmann, K; Gold, S M; Heesen, C; Spitzer, C; Endres, M; Otte, C

    2012-11-01

    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.

  10. [Neurological phenocopying].

    PubMed

    Pascual, J M

    To expand the -supposedly- narrow relationships that exist between genes and clinical syndromes by reflecting on several illustrative examples that disturb current simplistic genotype: phenotype correlations, and to explore a variety of biological mechanisms that account for this emerging phenomenon. Because it is well known that mutations in a single gene can give rise to numerous phenotypes, it would appear, at least intuitively, that the converse relationship might also hold true: that different genotypes may converge on just one single phenotype. Several examples taken from the study of selected neurological diseases illustrate that the latter principle indeed occurs in nature because disparate human genetic anomalies manifest similarly by exhibiting only a relatively limited phenotypic repertoire. This interesting biological phenomenon and vexing clinical problem is best described as phenocopying. Conditions such as spinal muscular atrophy, congenital glycosylation disorders, and mitochondrial diseases are but a few notorious examples of phenocopying. The nervous system is endowed with a limited number of genes and of types of molecules and, especially during development, its functional repertoire, at least from an observable point of view, is also limited. Therefore, ample genotyping capabilities are necessary to avoid erring in the process of diagnostic attribution because of phenocopying.

  11. Development in pain and neurologic complaints after whiplash: a 1-year prospective study.

    PubMed

    Kasch, Helge; Bach, Flemming W; Stengaard-Pedersen, Kristian; Jensen, Troels S

    2003-03-11

    To prospectively examine the course of pain and other neurologic complaints in patients with acute whiplash injury and in controls with acute ankle injury. Patients with acute whiplash (n = 141) and ankle-injured controls (n = 40) were consecutively sampled, and underwent interview and examination after 1 week and 1, 3, 6, and 12 months. Outcome measures were pain intensity, pain frequency, and associated symptoms. Initial overall pain intensity above lower extremities (pain in neck, head, shoulder-arm, and low back) was similar in patients with whiplash (median Visual Analogue Scale [VAS](0-100) of 20 [25th and 75th percentile, 4, 39]) and ankle-injured controls (median VAS(0-100) of 15 [5, 34]). Whiplash-injured patients reported median overall VAS(0-100) pain intensity above lower extremities of 23 (12, 40) after 11 days and 14 (12, 40) after 1 year. Controls reported pain intensity of 0 (0, 4) after 12 days and 0 (0, 9) after 1 year. Reported overall pain frequency above lower extremities was 96% after 11 days and 74% after 1 year in whiplash-injured patients and 33% after 12 days and 47% after 1 year in controls. Associated neurologic symptoms were two to three times more common after whiplash injury. Correlation was found between pain intensity and associated symptoms in whiplash-injured patients but not controls. Pain occurs with high frequency but low intensity after whiplash and ankle injury. Associated neurologic symptoms were not correlated to pain in ankle-injured controls, but were correlated to pain in patients with whiplash injury. Persistent symptoms in whiplash-injured patients may be caused by both specific neck injury-related factors and nonspecific post-traumatic reactions. Disability was only encountered in the whiplash group.

  12. Systematic review: efficacy and safety of medical marijuana in selected neurologic disorders: report of the Guideline Development Subcommittee of the American Academy of Neurology.

    PubMed

    Koppel, Barbara S; Brust, John C M; Fife, Terry; Bronstein, Jeff; Youssof, Sarah; Gronseth, Gary; Gloss, David

    2014-04-29

    To determine the efficacy of medical marijuana in several neurologic conditions. We performed a systematic review of medical marijuana (1948-November 2013) to address treatment of symptoms of multiple sclerosis (MS), epilepsy, and movement disorders. We graded the studies according to the American Academy of Neurology classification scheme for therapeutic articles. Thirty-four studies met inclusion criteria; 8 were rated as Class I. The following were studied in patients with MS: (1) Spasticity: oral cannabis extract (OCE) is effective, and nabiximols and tetrahydrocannabinol (THC) are probably effective, for reducing patient-centered measures; it is possible both OCE and THC are effective for reducing both patient-centered and objective measures at 1 year. (2) Central pain or painful spasms (including spasticity-related pain, excluding neuropathic pain): OCE is effective; THC and nabiximols are probably effective. (3) Urinary dysfunction: nabiximols is probably effective for reducing bladder voids/day; THC and OCE are probably ineffective for reducing bladder complaints. (4) Tremor: THC and OCE are probably ineffective; nabiximols is possibly ineffective. (5) Other neurologic conditions: OCE is probably ineffective for treating levodopa-induced dyskinesias in patients with Parkinson disease. Oral cannabinoids are of unknown efficacy in non-chorea-related symptoms of Huntington disease, Tourette syndrome, cervical dystonia, and epilepsy. The risks and benefits of medical marijuana should be weighed carefully. Risk of serious adverse psychopathologic effects was nearly 1%. Comparative effectiveness of medical marijuana vs other therapies is unknown for these indications.

  13. Vitronectin is not essential for normal mammalian development and fertility.

    PubMed Central

    Zheng, X; Saunders, T L; Camper, S A; Samuelson, L C; Ginsburg, D

    1995-01-01

    Vitronectin (VN) is an abundant glycoprotein present in plasma and the extracellular matrix of most tissues. Though the precise function of VN in vivo is unknown, it has been implicated as a participant in diverse biological processes, including cell attachment and spreading, complement activation, and regulation of hemostasis. The major site of synthesis appears to be the liver, though VN is also found in the brain at an early stage of mouse organogenesis, suggesting that it may play an important role in mouse development. Genetic deficiency of VN has not been reported in humans or in other higher organisms. To examine the biologic function of VN within the context of the intact animal, we have established a murine model for VN deficiency through targeted disruption of the murine VN gene. Southern blot analysis of DNA obtained from homozygous null mice demonstrates deletion of all VN coding sequences, and immunological analysis confirms the complete absence of VN protein expression in plasma. However, heterozygous mice carrying one normal and one null VN allele and homozygous null mice completely deficient in VN demonstrate normal development, fertility, and survival. Sera obtained from VN-deficient mice are completely deficient in "serum spreading factor" and plasminogen activator inhibitor 1 binding activities. These observations demonstrate that VN is not essential for cell adhesion and migration during normal mouse development and suggest that its role in these processes may partially overlap with other adhesive matrix components. Images Fig. 1 Fig. 2 Fig. 3 PMID:8618914

  14. The Stigma Scale for Chronic Illnesses 8-item version (SSCI-8): Development, validation, and use across neurological conditions

    PubMed Central

    Molina, Yamile; Choi, Seung W.; Cella, David; Rao, Deepa

    2013-01-01

    Purpose Although the impact of stigma has been highlighted for epileptic populations, the experiences of people living with other neurological conditions have been less studied. In order to promote research on stigma among people with neurological conditions, we sought to develop and psychometrically validate an 8-item questionnaire measuring internalised and enacted stigma experienced by people with epilepsy, multiple sclerosis (MS), Parkinson’s disease (PD), stroke, and amyotrophic lateral sclerosis (ALS). Methods We used Item Response Theory (IRT) methodologies to select items and field-tested our items with 587 participants from 8 academic medical centres across the United States. Results We conducted Exploratory and Confirmatory Factor Analysis as well as examined scale the reliability and validity. In addition, we conducted an analysis of variance (ANOVA) test to examine mean total score differences across the 5 neurological conditions. Data from people across conditions revealed that the shortened instrument conformed to an essentially unidimensional model of multi-faceted stigma as a 1-factor questionnaire with correlated residuals on a pair of items that distinctly measured internalised stigma. Conclusions Preliminary evidence suggests that the Stigma Scale for Chronic Illness 8-item version (SSCI-8) fits a unidimensional model, which assesses enacted and internalised stigma, and has adequate internal consistency/reliability and validity in relation to psychological distress and patient performance. Our results suggest fairly low stigma for neurological populations. In addition, our results suggest that stigma may be more severe for patients with ALS relative to those with MS and PD. Our results suggest that the scale could be used practically in the clinic setting to examine stigma without the patient burden associated with lengthier scales. PMID:22639392

  15. The stigma scale for chronic illnesses 8-item version (SSCI-8): development, validation and use across neurological conditions.

    PubMed

    Molina, Yamile; Choi, Seung W; Cella, David; Rao, Deepa

    2013-09-01

    Although the impact of stigma has been highlighted for epileptic populations, the experiences of people living with other neurological conditions have been less studied. In order to promote research on stigma among people with neurological conditions, we sought to develop and psychometrically validate an eight-item questionnaire measuring internalised and enacted stigma experienced by people with epilepsy, multiple sclerosis (MS), Parkinson's disease (PD), stroke and amyotrophic lateral sclerosis (ALS). We used item response theory methodologies to select items and field tested our items with 587 participants from eight academic medical centres across the USA. We conducted exploratory and confirmatory factor analysis as well as examined the scale's reliability and validity. In addition, we conducted an analysis of variance test to examine mean total score differences across the five neurological conditions. Data from people across conditions revealed that the shortened instrument conformed to an essentially unidimensional model of multifaceted stigma as a one-factor questionnaire with correlated residuals on a pair of items that distinctly measured internalised stigma. Preliminary evidence suggests that the Stigma Scale for Chronic Illness 8-item version fits a unidimensional model, which assesses enacted and internalised stigma, and has adequate internal consistency/reliability and validity in relation to psychological distress and patient performance. Our results suggest fairly low stigma for neurological populations. In addition, our results suggest that stigma may be more severe for patients with ALS relative to those with MS and PD. In the future, the SSCI-8 scale could be used practically in clinic settings to examine stigma without the patient burden associated with lengthier scales.

  16. [Endogenous and exogenous evoked potentials in the most common neurologic syndromes during development].

    PubMed

    Zgorzalewicz, M

    2001-01-01

    This paper presents the application of endo- and egzogenic evoked potentials (EP) in the most frequent neurological syndromes in children and adolescents on the basis of the author's own experiences. The advantages of the method are: objectiveness, noninvasive and the possibility of numerous repetitions. The principles of EPs application and interpretation are established by the recommendations of the International Federation of Clinical Neurophysiology. The analysis of the results contains morphology of recording, latencies and amplitudes of potentials. EPs constitute the important research method in child neurology. They are useful in diagnostics of demyelinating, degenerative and metabolic diseases, tumours of the nervous system, phacomatoses, infections and cerebrovascular disorders, CNS traumas and in cases of psychomotor retardation. The importance of this method consists in 1. diagnosis of symptomatic and asymptomatic pathological processes, 2. localization of the lesion, 3. confirmation of clinical diagnosis, 4. aid in differentiation, 5. monitoring of the treatment, 6. observation of the disease dynamics, 7. evaluation of the prognosis. Endogenic potentials enable neurophysiological evaluation of cognitive processes. Especially P 300 is analyzed in the range of its latency, amplitude and topography. P 300 is evaluated in relation to syndromes and diseases of developmental age, mostly in epilepsy, headaches, tumours, CVS traumas and minimal brain dysfunction.

  17. [Palliative care in neurology].

    PubMed

    Provinciali, Leandro; Tarquini, Daniela; De Falco, Fabrizio A; Carlini, Giulia; Zappia, Mario; Toni, Danilo

    2015-07-01

    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.

  18. Adult neurology training during child neurology residency.

    PubMed

    Schor, Nina F

    2012-08-21

    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.

  19. [Elevation of proinflammatory cytokines level at early age as the risk factor of neurological and mental pathology development].

    PubMed

    Zubarev, O E; Klimenko, V M

    2011-10-01

    Proinflammatory cytokines Interleukin-1, Interleukin-6 (IL-1, IL-6) and tumour necrosis factor alpha (TNFalpha), the key mediators of neuroimmune interactions, are the common pathogenic part of various kinds of the perinatal pathology leading to severe neurological and mental diseases. In the review, features of expression of the proinflammatory cytokines and their receptors in the brain at early age under normal and pathological conditions, their influence on processes of maturing of the CNS cells are described, the data of experimental and clinical researches of disturbances of the mental functions arising in adults owing to elevation of the IL-1, IL-6 levels and TNFalpha in early ontogenesis are cited. The role of the cytokines in pathogenesis of schizophrenia, a syndrome of attention deficiency, autism and a Parkinsonism is discussed.

  20. Ire1 supports normal ER differentiation in developing Drosophila photoreceptors

    PubMed Central

    Xu, Zuyuan; Chikka, Madhusudana Rao; Xia, Hongai; Ready, Donald F.

    2016-01-01

    ABSTRACT The endoplasmic reticulum (ER) serves virtually all aspects of cell physiology and, by pathways that are incompletely understood, is dynamically remodeled to meet changing cell needs. Inositol-requiring enzyme 1 (Ire1), a conserved core protein of the unfolded protein response (UPR), participates in ER remodeling and is particularly required during the differentiation of cells devoted to intense secretory activity, so-called ‘professional’ secretory cells. Here, we characterize the role of Ire1 in ER differentiation in the developing Drosophila compound eye photoreceptors (R cells). As part of normal development, R cells take a turn as professional secretory cells with a massive secretory effort that builds the photosensitive membrane organelle, the rhabdomere. We find rough ER sheets proliferate as rhabdomere biogenesis culminates, and Ire1 is required for normal ER differentiation. Ire1 is active early in R cell development and is required in anticipation of peak biosynthesis. Without Ire1, the amount of rough ER sheets is strongly reduced and the extensive cortical ER network at the rhabdomere base, the subrhabdomere cisterna (SRC), fails. Instead, ER proliferates in persistent and ribosome-poor tubular tangles. A phase of Ire1 activity early in R cell development thus shapes dynamic ER. PMID:26787744

  1. Emotion processes in normal and abnormal development and preventive intervention.

    PubMed

    Izard, Carroll E; Fine, Sarah; Mostow, Allison; Trentacosta, Christopher; Campbell, Jan

    2002-01-01

    We present an analysis of the role of emotions in normal and abnormal development and preventive intervention. The conceptual framework stems from three tenets of differential emotions theory (DET). These principles concern the constructs of emotion utilization; intersystem connections among modular emotion systems, cognition, and action; and the organizational and motivational functions of discrete emotions. Particular emotions and patterns of emotions function differentially in different periods of development and in influencing the cognition and behavior associated with different forms of psychopathology. Established prevention programs have not emphasized the concept of emotion as motivation. It is even more critical that they have generally neglected the idea of modulating emotions, not simply to achieve self-regulation, but also to utilize their inherently adaptive functions as a means of facilitating the development of social competence and preventing psychopathology. The paper includes a brief description of a theory-based prevention program and suggestions for complementary targeted interventions to address specific externalizing and internalizing problems. In the final section, we describe ways in which emotion-centered preventions can provide excellent opportunities for research on the development of normal and abnormal behavior.

  2. [Development of the locomotive and neurologic symptoms in the offspring of schizophrenics during the first few years of life].

    PubMed

    Goriunova, A V

    1990-01-01

    The author provides the neurological characteristics and the follow-up data on the development of locomotion in 36 children aged 3 months to 3 years born to schizophrenic patients. Three variants of motor development were distinguished: the first one--early and proper development; the second one--short-term retardation at some stages, namely before the age of 1 year and 4 months, with intermittent episodes in the development and a proper or little changed formula of the postural and motor development; the third one--appreciable retardation and perversion of the motor developmental formula, insufficiency of the extrapyramidal and cortical components of the motor act, preserved even after 3 years of age. Among the discovered neurological symptoms, disorders in the system of gaze innervation, vocal and motor disorders, motor stereotypies, disturbances of the extrapyramidal and cortical component of the motor act, the hydrocephalic syndrome can be attributed to more specific ones as regards the schizotypic dysontogenesis. They were distinguished for using in further follow-up of the children.

  3. Histone turnover and chromatin accessibility: Critical mediators of neurological development, plasticity, and disease

    PubMed Central

    Wenderski, Wendy; Maze, Ian

    2016-01-01

    In postmitotic neurons, nucleosomal turnover was long considered to be a static process that is inconsequential to transcription. However, our recent studies in human and rodent brain indicate that replication-independent (RI) nucleosomal turnover, which requires the histone variant H3.3, is dynamic throughout life and is necessary for activity-dependent gene expression, synaptic connectivity, and cognition. H3.3 turnover also facilitates cellular lineage specification and plays a role in suppressing the expression of heterochromatic repetitive elements, including mutagenic transposable sequences, in mouse embryonic stem cells. In this essay, we review mechanisms and functions for RI nucleosomal turnover in brain and present the hypothesis that defects in histone dynamics may represent a common mechanism underlying neurological aging and disease. PMID:26990528

  4. Neurologic emergencies.

    PubMed

    Piecuch, J F; Lieblich, S E

    1995-07-01

    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.

  5. Occupational neurology.

    PubMed Central

    Feldman, R. G.

    1987-01-01

    The nervous system is vulnerable to the effects of certain chemicals and physical conditions found in the work environment. The activities of an occupational neurologist focus on the evaluation of patients with neurological disorders caused by occupational or environmental conditions. When one is making a differential diagnosis in patients with neurological disorders, the possibility of toxic exposure or encounters with physical factors in the workplace must not be overlooked. Central to an accurate clinical diagnosis is the patient's history. A diagnosis of an occupational or environmental neurological problem requires a careful assessment of the clinical abnormalities and confirmation of these disabilities by objective tests such as nerve conduction velocity, evoked potentials, electroencephalogram, neuropsychological batteries, or nerve biopsy. On the basis of information about hazards in the workplace, safety standards and environmental and biological monitoring can be implemented in the workplace to reduce the risks of undue injury. Clinical manifestations of headache, memory disturbance, and peripheral neuropathy are commonly encountered presentations of the effects of occupational hazards. Physicians in everyday clinical practice must be aware of the signs and symptoms associated with exposure to possible neurotoxins and work methods. Occupational and environmental circumstances must be explored when evaluating patients with neurologic disorders. PMID:3577214

  6. Ecological developmental biology: environmental signals for normal animal development.

    PubMed

    Gilbert, Scott F

    2012-01-01

    The environment plays instructive roles in development and selective roles in evolution. This essay reviews several of the instructive roles whereby the organism has evolved to receive cues from the environment in order to modulate its developmental trajectory. The environmental cues can be abiotic (such as temperature or photoperiod) or biotic (such as those emanating from predators, conspecifics, or food), and the "alteration" produces a normal, not a pathological, phenotype, that is appropriate for the environment. In addition, symbiotic organisms can produce important signals during normal development. Environmental cues can be obligatory, such that the organism cannot develop without the environmental cue. These cues often permit and instruct the organism to proceed from one developmental stage to another, as when larvae receive cues to settle and undergo metamorphosis from substrates. Such obligatory cues can also be given by symbionts, as when Wolbachia bacteria prevent apoptosis in developing ovaries of some wasps. Other environmental cues can be used facultatively, allowing organisms to follow different developmental trajectories depending on whether the cue is present or not. This can be seen in the temperature-dependent determination of sex in many reptiles and in the determination of thermotolerance in aphids by their symbiotic bacteria. Signaling from the environment is essential in development, and co-development appears to be normative between symbionts and their hosts. Here, one sees the reciprocal induction of gene expression, just as within the embryonic organism. The ability of organisms to respond to environmental cues by producing different phenotypes may be critically important in evolution, and it may be an essential feature that can facilitate or limit evolution.

  7. Neurological surgery planning system

    NASA Astrophysics Data System (ADS)

    Jiang, Charlie Z. W.; Zamorano, Lucia J.; Kadi, A. Majeed

    1993-09-01

    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.

  8. Multi-contrast human neonatal brain atlas: application to normal neonate development analysis.

    PubMed

    Oishi, Kenichi; Mori, Susumu; Donohue, Pamela K; Ernst, Thomas; Anderson, Lynn; Buchthal, Steven; Faria, Andreia; Jiang, Hangyi; Li, Xin; Miller, Michael I; van Zijl, Peter C M; Chang, Linda

    2011-05-01

    MRI is a sensitive method for detecting subtle anatomic abnormalities in the neonatal brain. To optimize the usefulness for neonatal and pediatric care, systematic research, based on quantitative image analysis and functional correlation, is required. Normalization-based image analysis is one of the most effective methods for image quantification and statistical comparison. However, the application of this methodology to neonatal brain MRI scans is rare. Some of the difficulties are the rapid changes in T1 and T2 contrasts and the lack of contrast between brain structures, which prohibits accurate cross-subject image registration. Diffusion tensor imaging (DTI), which provides rich and quantitative anatomical contrast in neonate brains, is an ideal technology for normalization-based neonatal brain analysis. In this paper, we report the development of neonatal brain atlases with detailed anatomic information derived from DTI and co-registered anatomical MRI. Combined with a diffeomorphic transformation, we were able to normalize neonatal brain images to the atlas space and three-dimensionally parcellate images into 122 regions. The accuracy of the normalization was comparable to the reliability of human raters. This method was then applied to babies of 37-53 post-conceptional weeks to characterize developmental changes of the white matter, which indicated a posterior-to-anterior and a central-to-peripheral direction of maturation. We expect that future applications of this atlas will include investigations of the effect of prenatal events and the effects of preterm birth or low birth weights, as well as clinical applications, such as determining imaging biomarkers for various neurological disorders. Copyright © 2011 Elsevier Inc. All rights reserved.

  9. X Chromosome Abnormalities and Cognitive Development: Implications for Understanding Normal Human Development.

    ERIC Educational Resources Information Center

    Walzer, Stanley

    1985-01-01

    Argues that knowledge from studies of individuals with sex chromosome abnormalities can further understanding of aspects of normal human development. Studies of XO girls, XXY boys, XXX girls, and males with a fragile X chromosome are summarized to demonstrate how results contribute to knowledge about normal cognitive development and about…

  10. X Chromosome Abnormalities and Cognitive Development: Implications for Understanding Normal Human Development.

    ERIC Educational Resources Information Center

    Walzer, Stanley

    1985-01-01

    Argues that knowledge from studies of individuals with sex chromosome abnormalities can further understanding of aspects of normal human development. Studies of XO girls, XXY boys, XXX girls, and males with a fragile X chromosome are summarized to demonstrate how results contribute to knowledge about normal cognitive development and about…

  11. Neurologic evaluation of the ear.

    PubMed

    Cook, Laurie B

    2004-03-01

    Diseases of the ear often cause signs of neurologic dysfunction because of damage of peripheral nervous system structures associated with the middle and inner ear. Vestibular dysfunction, facial paralysis, Horner's syndrome, and hearing deficits are the most common neurologic deficits that accompany middle and inner ear disease. Differentiating these signs from disease of the central nervous system is crucial for an accurate diagnosis and prognosis but can be difficult. Understanding the normal anatomy of the ear and its association with the brain is crucial to interpretation of the neurologic examination. This article reviews neurologic dysfunction commonly associated with diseases of the ear and differentiating these signs from central disease.

  12. The normal development of Platynereis dumerilii (Nereididae, Annelida)

    PubMed Central

    2010-01-01

    Background The polychaete annelid Platynereis dumerilii is an emerging model organism for the study of molecular developmental processes, evolution, neurobiology and marine biology. Annelids belong to the Lophotrochozoa, the so far understudied third major branch of bilaterian animals besides deuterostomes and ecdysozoans. P. dumerilii has proven highly relevant to explore ancient bilaterian conditions via comparison to the deuterostomes, because it has accumulated less evolutionary change than conventional ecdysozoan models. Previous staging was mainly referring to hours post fertilization but did not allow matching stages between studies performed at (even slightly) different temperatures. To overcome this, and to provide a first comprehensive description of P. dumerilii normal development, a temperature-independent staging system is needed. Results Platynereis dumerilii normal development is subdivided into 16 stages, starting with the zygote and ending with the death of the mature worms after delivering their gametes. The stages described can be easily identified by conventional light microscopy or even by dissecting scope. Developmental landmarks such as the beginning of phototaxis, the visibility of the stomodeal opening and of the chaetae, the first occurrence of the ciliary bands, the formation of the parapodia, the extension of antennae and cirri, the onset of feeding and other characteristics are used to define different developmental stages. The morphology of all larval stages as well as of juveniles and adults is documented by light microscopy. We also provide an overview of important steps in the development of the nervous system and of the musculature, using fluorescent labeling techniques and confocal laser-scanning microscopy. Timing of each developmental stage refers to hours post fertilization at 18 ± 0.1°C. For comparison, we determined the pace of development of larvae raised at 14°C, 16°C, 20°C, 25°C, 28°C and 30°C. A staging ontology

  13. Noncoding RNAs and RNA editing in brain development, functional diversification, and neurological disease.

    PubMed

    Mehler, Mark F; Mattick, John S

    2007-07-01

    The progressive maturation and functional plasticity of the nervous system in health and disease involve a dynamic interplay between the transcriptome and the environment. There is a growing awareness that the previously unexplored molecular and functional interface mediating these complex gene-environmental interactions, particularly in brain, may encompass a sophisticated RNA regulatory network involving the twin processes of RNA editing and multifaceted actions of numerous subclasses of non-protein-coding RNAs. The mature nervous system encompasses a wide range of cell types and interconnections. Long-term changes in the strength of synaptic connections are thought to underlie memory retrieval, formation, stabilization, and effector functions. The evolving nervous system involves numerous developmental transitions, such as neurulation, neural tube patterning, neural stem cell expansion and maintenance, lineage elaboration, differentiation, axonal path finding, and synaptogenesis. Although the molecular bases for these processes are largely unknown, RNA-based epigenetic mechanisms appear to be essential for orchestrating these precise and versatile biological phenomena and in defining the etiology of a spectrum of neurological diseases. The concerted modulation of RNA editing and the selective expression of non-protein-coding RNAs during seminal as well as continuous state transitions may comprise the plastic molecular code needed to couple the intrinsic malleability of neural network connections to evolving environmental influences to establish diverse forms of short- and long-term memory, context-specific behavioral responses, and sophisticated cognitive capacities.

  14. Mechanisms of normal fault development at mid-ocean ridges

    NASA Astrophysics Data System (ADS)

    Behn, Mark D.; Lin, Jian; Zuber, Maria T.

    2002-04-01

    Slow spreading ridge segments are characterized not only by small, closely spaced faults that develop near the segment center but also by large, widely spaced faults that develop near the segment ends, typically at the inside corner of a ridge-offset intersection. In this study we investigate the competing effects of stress accumulation in the lithosphere and the yield strength of the lithosphere in controlling the location of normal fault formation and direction of propagation. Seismic velocity models from the Mid-Atlantic Ridge in the Oceanographer-Hayes region and 29°N and the East Pacific Rise at 9°N were used to estimate the along-axis change in dynamic Young's modulus. Corresponding thermal and rheologic models were calculated to estimate the along-axis variation in yield strength. We then develop a thin-plate model to calculate the predicted location of fault initiation or reactivation and the subsequent propagation direction for different combinations of linear along-axis gradients in Young's modulus and yield strength. On the basis of this model we define two modes of normal fault development at slow spreading segments: mode C (center) faults, which develop at the segment center and propagate outward, and mode E (end) faults, which develop at the segment ends and propagate inward. Mode C faults are predicted to form at ridges where the along-axis variation in yield strength dominates the along-axis accumulation of stress. Conversely, mode E faults are predicted to develop at ridges where stress accumulation toward segment ends overcomes the high yield strength in these locations. In addition to the accumulation of stress caused by along-axis gradients in Young's modulus, we illustrate that shear stresses resisting relative plate motion along a transform fault will generate higher effective stress at inside corners, possibly concentrating mode E faulting in these locations. At fast spreading ridges, where along-axis gradients in stress and lithospheric

  15. Effects of pre- and postnatal exposure to chromium picolinate or picolinic acid on neurological development in CD-1 mice.

    PubMed

    Bailey, Melissa M; Boohaker, Jonathan G; Jernigan, Peter L; Townsend, Megan B; Sturdivant, John; Rasco, Jane F; Vincent, John B; Hood, Ronald D

    2008-07-01

    Chromium picolinate, Cr(pic)3, a popular dietary supplement marketed as an aid in fat loss and lean muscle gain, has also been suggested as a therapy for women with gestational diabetes. The current study investigated the effects of maternal exposure to Cr(pic)3 and picolinic acid during gestation and lactation on neurological development of the offspring. Mated female CD-1 mice were fed diets from implantation through weaning that were either untreated or that contained Cr(pic)3 (200 mg kg(-1) day(-1)) or picolinic acid (174 mg kg(-1) day(-1)). A comprehensive battery of postnatal tests was administered, including a modified Fox battery, straight-channel swim, open-field activity, and odor-discrimination tests. Pups exposed to picolinic acid tended to weigh less than either control or Cr(pic)3-exposed pups, although the differences were not significant. Offspring of picolinic acid-treated dams also appeared to display impaired learning ability, diminished olfactory orientation ability, and decreased forelimb grip strength, although the differences among the treatment groups were not significant. The results indicate that there were no significant effects on the offspring with regard to neurological development from supplementation of the dams with either Cr(pic)3 or picolinic acid.

  16. [Neurological rehabilitation].

    PubMed

    Hömberg, V

    2010-10-01

    This article describes state of the art concepts of neurological rehabilitation in Germany. In parallel to enormous growth of knowledge in the neurosciences also neurological rehabilitation has made significant progress. The increasing use of concepts of evidence based medicine and an early translation of knowledge from the neurosciences into clinical rehabilitation practice contribute to therapeutic advances. It is now widely accepted, that rehabilitation should start early and should be organized in a multidisciplinary professional team. Therapeutic procedures selected should be evidence based and have to be modified to find custom tailored solutions for individual patients. General rules derived from neuroscientific knowledge have been shown to be useful to design new therapeutic techniques. Neuromodulatory stimulation and special pharmacological treatments provide further options for enhancing results of rehabilitation.

  17. [Neuroplasticity: synaptogenesis during normal development and its implication in intellectual disability].

    PubMed

    Martinez-Morga, M; Martinez, S

    2017-02-24

    Neuroplasticity is the biological capacity of the nervous system to modify its structure and functioning to adapt to both physiological and pathological variations in the environment. Its main physiological consequences are learning and memory, and its pathological outcome is neurological rehabilitation. The continuous change and initial fragility of the developing brain make the embryonic and foetal periods especially plastic (what is known as developmental neuroplasticity). The progressive reduction in plasticity, however, is never complete and the capacity to modify the brain circuits in response to new learning (adaptive neuroplasticity) or brain injuries (reactive neuroplasticity) remains throughout the individual's entire lifespan. The main neurobiological mechanism underlying neuroplasticity is the formation of synaptic contacts between neurons. Neurodevelopmental disorders are associated to functional anomalies of the brain, often derived from the lack of adaptive or reactive capacity of the brain to modify circuits that are malformed or damaged by genetic or environmental anomalies. They are traditionally associated with the appearance of intellectual disability and mental illnesses. This review deals with the development of the neuroplasticity of the brain and its neurobiological mechanisms. Some of the cellular and molecular processes involved in its normal development are also examined, together with the possible consequences deriving from alterations affecting them.

  18. Critical Requirement of GABPα for Normal T Cell Development*

    PubMed Central

    Yu, Shuyang; Zhao, Dong-Mei; Jothi, Raja; Xue, Hai-Hui

    2010-01-01

    GA binding protein (GABP) consists of GABPα and GABPβ subunits. GABPα is a member of Ets family transcription factors and binds DNA via its conserved Ets domain, whereas GABPβ does not bind DNA but possesses transactivation activity. In T cells, GABP has been demonstrated to regulate the gene expression of interleukin-7 receptor α chain (IL-7Rα) and postulated to be critical in T cell development. To directly investigate its function in early thymocyte development, we used GABPα conditional knock-out mice where the exons encoding the Ets DNA-binding domain are flanked with LoxP sites. Ablation of GABPα with the Lck-Cre transgene greatly diminished thymic cellularity, blocked thymocyte development at the double negative 3 (DN3) stage, and resulted in reduced expression of T cell receptor (TCR) β chain in DN4 thymocytes. By chromatin immunoprecipitation, we demonstrated in DN thymocytes that GABPα is associated with transcription initiation sites of genes encoding key molecules in TCR rearrangements. Among these GABP-associated genes, knockdown of GABPα expression by RNA interference diminished expression of DNA ligase IV, Artemis, and Ku80 components in DNA-dependent protein kinase complex. Interestingly, forced expression of prearranged TCR but not IL-7Rα can alleviate the DN3 block in GABPα-targeted mice. Our observations collectively indicate that in addition to regulating IL-7Rα expression, GABP is critically required for TCR rearrangements and hence normal T cell development. PMID:20139079

  19. Whole ARX gene duplication is compatible with normal intellectual development.

    PubMed

    Popovici, Cornel; Busa, Tiffany; Boute, Odile; Thuresson, Ann-Charlotte; Perret, Odile; Sigaudy, Sabine; Södergren, Tommy; Andrieux, Joris; Moncla, Anne; Philip, Nicole

    2014-09-01

    We report here on four males from three families carrying de novo or inherited small Xp22.13 duplications including the ARX gene detected by chromosomal microarray analysis (CMA). Two of these males had normal intelligence. Our report suggests that, unlike other XLMR genes like MECP2 and FMR1, the presence of an extra copy of the ARX gene may not be sufficient to perturb its developmental functions. ARX duplication does not inevitably have detrimental effects on brain development, in contrast with the effects of ARX haploinsufficiency. The abnormal phenotype ascribed to the presence of an extra copy in some male patients may have resulted from the effect of another, not yet identified, chromosomal or molecular anomaly, alone or in association with ARX duplication. © 2014 Wiley Periodicals, Inc.

  20. Thyroid stem cells: lessons from normal development and thyroid cancer

    PubMed Central

    Thomas, Dolly; Friedman, Susan; Lin, Reigh-Yi

    2009-01-01

    Ongoing advances in stem cell research have opened new avenues for therapy for many human disorders. Until recently, however, thyroid stem cells have been relatively understudied. Here, we review what is known about thyroid stem cells and explore their utility as models of normal and malignant biological development. We also discuss the cellular origin of thyroid cancer stem cells and explore the clinical implications of cancer stem cells in the thyroid gland. Since thyroid cancer is the most common form of endocrine cancer and that thyroid hormone is needed for the growth and metabolism of each cell in the body, understanding the molecular and the cellular aspects of thyroid stem cell biology will ultimately provide insights into mechanisms underlying human disease. PMID:18310275

  1. Neurology in Asia.

    PubMed

    Tan, Chong-Tin

    2015-02-10

    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.

  2. Are there more bowel symptoms in children with autism compared to normal children and children with other developmental and neurological disorders?: A case control study.

    PubMed

    Smith, R A; Farnworth, H; Wright, B; Allgar, V

    2009-07-01

    There is considerable controversy as to whether there is an association between bowel disorders and autism. Using a bowel symptom questionnaire we compared 51 children with autism spectrum disorder with control groups of 35 children from special school and 112 from mainstream school. There was a significant difference in the reporting of certain bowel symptoms (constipation, diarrhoea, flatulence) and food faddiness between the autism group and the mainstream school control group. There was no significant difference between the autism group and children in the special schools except for faddiness, which is an autism specific symptom and not a bowel symptom. This study confirms previously reported findings of an increase in bowel symptoms in children with autism. It would appear, however, that this is not specifically associated with autism as bowel symptoms were reported in similar frequency to a comparison group of children with other developmental and neurological disorders.

  3. Target normal sheath acceleration analytical modeling, comparative study and developments

    SciTech Connect

    Perego, C.; Batani, D.; Zani, A.; Passoni, M.

    2012-02-15

    Ultra-intense laser interaction with solid targets appears to be an extremely promising technique to accelerate ions up to several MeV, producing beams that exhibit interesting properties for many foreseen applications. Nowadays, most of all the published experimental results can be theoretically explained in the framework of the target normal sheath acceleration (TNSA) mechanism proposed by Wilks et al. [Phys. Plasmas 8(2), 542 (2001)]. As an alternative to numerical simulation various analytical or semi-analytical TNSA models have been published in the latest years, each of them trying to provide predictions for some of the ion beam features, given the initial laser and target parameters. However, the problem of developing a reliable model for the TNSA process is still open, which is why the purpose of this work is to enlighten the present situation of TNSA modeling and experimental results, by means of a quantitative comparison between measurements and theoretical predictions of the maximum ion energy. Moreover, in the light of such an analysis, some indications for the future development of the model proposed by Passoni and Lontano [Phys. Plasmas 13(4), 042102 (2006)] are then presented.

  4. DEVELOPMENT OF PERIRADICULAR LESIONS IN NORMAL AND DIABETIC RATS

    PubMed Central

    Armada-Dias, Luci; Breda, Jorge; Provenzano, José Claudio; Breitenbach, Marisa; Rôças, Isabela das Neves; Gahyva, Sérgio Márcio Motta; Siqueira, José Freitas

    2006-01-01

    Evidence suggests that diabetic patients are more significantly affected by problems of endodontic origin. This study sought to radiographically and histologically examine the development of periradicular inflammation in control and in diabetic rats after induction of pulpal infection. The pulps of the mandibular first molars of normal and streptozotocin-induced diabetic rats were exposed and left in contact with their oral cavities for 21 and 40 days. Afterwards, the animals were sacrificed, the mandibles were surgically removed, fixed in formalin and then radiographed in a standardized position. The radiographic images of the periradicular lesions were scanned and computerized images were evaluated for the total area of the lesions using a specific software. Representative specimens were also prepared for histopathological analysis. Radiographic analysis revealed that diabetic rats presented significantly larger periradicular lesions when compared with control rats, regardless of the experimental period (p<0.05). Histopathological examination of representative specimens revealed larger periradicular lesions and more severe inflammatory exudate in the group of diabetic rats when compared with the control group. Data from the present study indicated that diabetic rats can be more prone to develop large periradicular lesions, possibly due to reduction in the defense ability against microbial pathogens. PMID:19089060

  5. Associations Between Prolonged Intubation and Developing Post-extubation Dysphagia and Aspiration Pneumonia in Non-neurologic Critically Ill Patients

    PubMed Central

    Kim, Min Jung; Park, Young Sook; Song, You Hong

    2015-01-01

    Objective To identify the associations between the duration of endotracheal intubation and developing post-extubational supraglottic and infraglottic aspiration (PEA) and subsequent aspiration pneumonia. Methods This was a retrospective observational study from January 2009 to November 2014 of all adult patients who had non-neurologic critical illness, required endotracheal intubation and were referred for videofluoroscopic swallowing study. Demographic information, intensive care unit (ICU) admission diagnosis, severity of critical illness, duration of endotracheal intubation, length of stay in ICU, presence of PEA and severity of dysphagia were reviewed. Results Seventy-four patients were enrolled and their PEA frequency was 59%. Patients with PEA had significantly longer endotracheal intubation durations than did those without (median [interquartile range]: 15 [9-21] vs. 10 [6-15] days; p=0.02). In multivariate logistic regression analysis, the endotracheal intubation duration was significantly associated with PEA (odds ratio, 1.09; 95% confidence interval [CI], 1.01-1.18; p=0.04). Spearman correlation analysis of intubation duration and dysphagia severity showed a positive linear association (r=0.282, p=0.02). The areas under the receiver operating characteristic curves (AUCs) of endotracheal intubation duration for developing PEA and aspiration pneumonia were 0.665 (95% CI, 0.542-0.788; p=0.02) and 0.727 (95% CI, 0.614-0.840; p=0.001), respectively. Conclusion In non-neurologic critically ill patients, the duration of endotracheal intubation was independently associated with PEA development. Additionally, the duration was positively correlated with dysphagia severity and may be helpful for identifying patients who require a swallowing evaluation after extubation. PMID:26605174

  6. Development of Communicative Gestures in Normally Developing Children between 8 and 18 Months: An Exploratory Study

    ERIC Educational Resources Information Center

    Veena, Kadiyali D; Bellur, Rajashekhar

    2015-01-01

    Children who have not developed speech tend to use gestures to communicate. Since gestures are not encouraged and suppressed in the Indian traditional context while speaking, this study focused on profiling the developing gestures in children to explore whether they use the gestures before development of speech. Eight normally developing…

  7. Development of Communicative Gestures in Normally Developing Children between 8 and 18 Months: An Exploratory Study

    ERIC Educational Resources Information Center

    Veena, Kadiyali D; Bellur, Rajashekhar

    2015-01-01

    Children who have not developed speech tend to use gestures to communicate. Since gestures are not encouraged and suppressed in the Indian traditional context while speaking, this study focused on profiling the developing gestures in children to explore whether they use the gestures before development of speech. Eight normally developing…

  8. The neurological disease ontology.

    PubMed

    Jensen, Mark; Cox, Alexander P; Chaudhry, Naveed; Ng, Marcus; Sule, Donat; Duncan, William; Ray, Patrick; Weinstock-Guttman, Bianca; Smith, Barry; Ruttenberg, Alan; Szigeti, Kinga; Diehl, Alexander D

    2013-12-06

    We are developing the Neurological Disease Ontology (ND) to provide a framework to enable representation of aspects of neurological diseases that are relevant to their treatment and study. ND is a representational tool that addresses the need for unambiguous annotation, storage, and retrieval of data associated with the treatment and study of neurological diseases. ND is being developed in compliance with the Open Biomedical Ontology Foundry principles and builds upon the paradigm established by the Ontology for General Medical Science (OGMS) for the representation of entities in the domain of disease and medical practice. Initial applications of ND will include the annotation and analysis of large data sets and patient records for Alzheimer's disease, multiple sclerosis, and stroke. ND is implemented in OWL 2 and currently has more than 450 terms that refer to and describe various aspects of neurological diseases. ND directly imports the development version of OGMS, which uses BFO 2. Term development in ND has primarily extended the OGMS terms 'disease', 'diagnosis', 'disease course', and 'disorder'. We have imported and utilize over 700 classes from related ontology efforts including the Foundational Model of Anatomy, Ontology for Biomedical Investigations, and Protein Ontology. ND terms are annotated with ontology metadata such as a label (term name), term editors, textual definition, definition source, curation status, and alternative terms (synonyms). Many terms have logical definitions in addition to these annotations. Current development has focused on the establishment of the upper-level structure of the ND hierarchy, as well as on the representation of Alzheimer's disease, multiple sclerosis, and stroke. The ontology is available as a version-controlled file at http://code.google.com/p/neurological-disease-ontology along with a discussion list and an issue tracker. ND seeks to provide a formal foundation for the representation of clinical and research data

  9. Development of a patient reported outcome measure for fatigue in motor neurone disease: the Neurological Fatigue Index (NFI-MND)

    PubMed Central

    2011-01-01

    Background The objective of this research was to develop a disease-specific measure for fatigue in patients with motor neurone disease (MND) by generating data that would fit the Rasch measurement model. Fatigue was defined as reversible motor weakness and whole-body tiredness that was predominantly brought on by muscular exertion and was partially relieved by rest. Methods Qualitative interviews were undertaken to confirm the suitability of a previously identified set of 52 neurological fatigue items as relevant to patients with MND. Patients were recruited from five U.K. MND clinics. Questionnaires were administered during clinic or by post. A sub-sample of patients completed the questionnaire again after 2-4 weeks to assess test-retest validity. Exploratory factor analyses and Rasch analysis were conducted on the item set. Results Qualitative interviews with ten MND patients confirmed the suitability of 52 previously identified neurological fatigue items as relevant to patients with MND. 298 patients consented to completing the initial questionnaire including this item set, with an additional 78 patients completing the questionnaire a second time after 4-6 weeks. Exploratory Factor Analysis identified five potential subscales that could be conceptualised as representing: 'Energy', 'Reversible muscular weakness' (shortened to 'Weakness'), 'Concentration', 'Effects of heat' and 'Rest'. Of the original five factors, two factors 'Energy' and 'Weakness' met the expectations of the Rasch model. A higher order fatigue summary scale, consisting of items from the 'Energy' and 'Weakness' subscales, was found to fit the Rasch model and have acceptable unidimensionality. The two scales and the higher order summary scale were shown to fulfil model expectations, including assumptions of unidimensionality, local independency and an absence of differential item functioning. Conclusions The Neurological Fatigue Index for MND (NFI-MND) is a simple, easy-to-administer fatigue

  10. [Development, problems and results of specialty-specific genetic counseling at the Neurology Clinic of the Karl Marx University].

    PubMed

    Bachmann, H

    1987-11-01

    Genetic counselling for inherited neurological diseases has been established at the Clinic for Neurology of Karl Marx University. Comprehensive experiences have been got with the specific and sometimes markedly different problems and aims of counselling in Wilsons disease, X-linked recessive muscular dystrophies, myotonic dystrophy and other neuromuscular disorders, Huntingtons chorea and hereditary ataxias.

  11. Design and development of "biomechatronic gym" for early detection of neurological disorders in infants.

    PubMed

    Cecchi, F; Serio, S M; Del Maestro, M; Laschi, C; Sgandurra, G; Cioni, G; Dario, P

    2010-01-01

    The study and measurement of grasping actions and forces in humans is important in a variety of contexts. In infants, it can give insights on the typical and atypical motor development, while it poses functional and operative requirements that are not fully matched by current sensing technology. Novel approaches for measuring infants' grasping actions are based on sensorized platform usable in natural settings. A new set of instrumented toys has been designed for the assessment/stimulation of upper limbs of infants between 4 and 9 months. A purposive biomechatronic gym has been developed by integrating pressure and force sensors and visual/auditory stimulations to the usual gym structure and hanging toys (cow, flower and ring puppets), so that the infants' actions on the gym can be monitored, measured and stimulated. With the developed system, a longitudinal clinical validation has been carried out with seven healthy infants. From data analysis it is possible to identify a trend in manual forces development and this result confirms the usefulness of the system proposed as a clinical tool for monitoring infants' grasping development.

  12. Human Embryonic Stem Cells: A Model for the Study of Neural Development and Neurological Diseases

    PubMed Central

    Prajumwongs, Piya; Weeranantanapan, Oratai; Jaroonwitchawan, Thiranut; Noisa, Parinya

    2016-01-01

    Although the mechanism of neurogenesis has been well documented in other organisms, there might be fundamental differences between human and those species referring to species-specific context. Based on principles learned from other systems, it is found that the signaling pathways required for neural induction and specification of human embryonic stem cells (hESCs) recapitulated those in the early embryo development in vivo at certain degree. This underscores the usefulness of hESCs in understanding early human neural development and reinforces the need to integrate the principles of developmental biology and hESC biology for an efficient neural differentiation. PMID:27239201

  13. The Influence of Lead Exposure and Toxicity to Children's Neurological Development and School Performance.

    ERIC Educational Resources Information Center

    Kimball, Sarah L.

    This report discusses the effects of lead exposure and toxicity on children's cognitive development and school performance and addresses the role of schools in prevention of lead poisoning. Sources of lead exposure include mining, smelting and refining activities, lead paint, leaded gasoline, and industrial emissions. The results of lead poisoning…

  14. Improving Instruction in Middle Level Schools: Implications of Neurological Data for Curriculum Development.

    ERIC Educational Resources Information Center

    Toepfer, Conrad F., Jr.

    Implications of biophysicist Herman Epstein's research on brain growth periodization, which develop a neurobiological consideration of learning issues for middle school curricula, have created controversy among educators and stimulus for further research. This presentation (1) summarizes the writer's interpretations of these data and implications…

  15. Improving Instruction in Middle Level Schools: Implications of Neurological Data for Curriculum Development.

    ERIC Educational Resources Information Center

    Toepfer, Conrad F., Jr.

    Implications of biophysicist Herman Epstein's research on brain growth periodization, which develop a neurobiological consideration of learning issues for middle school curricula, have created controversy among educators and stimulus for further research. This presentation (1) summarizes the writer's interpretations of these data and implications…

  16. [Neurology and literature].

    PubMed

    Iniesta, I

    2010-10-01

    Literature complements medical literature in the academic and clinical development of neurologists. The present article explores the contributions of writers of fiction on neurology. Literary works of fiction with particular reference to neurology. A symbiosis between writers of fiction and doctors has been well recognised. From Shakespeare to Cervantes by way of Dickens and Cela to writer - physicians such as Anton Chekhov or António Lobo Antunes have contributed through their medically informed literature to the better understanding of neurology. Some writers like Dostoevsky, Machado de Assis and Margiad Evans have written about their own experiences with disease thus bringing new insights to medicine. Furthermore, some neurological disorders have been largely based on literary descriptions. For instance, Dostoevsky's epilepsy has been retrospectively analysed by famous neurologists including Freud, Alajouanine or Gastaut, whilst his writings and biography have prompted others like Waxman and Geschwind to describe typical behavioural changes in temporal lobe epilepsy, finding their source of inspiration in Dostoevsky. Likewise, Cirignotta et al have named an unusual type of seizure after the Russian novelist. Inspired by Lewis Carroll, Todd introduced the term Alice in Wonderland Syndrome to refer to visual distortions generally associated with migraine. Writers of fiction offer a humanised perception of disease by contributing new insights into the clinical history, informing about the subjective experience of the illness and helping to eradicate the stigma associated to neurological disorders.

  17. Epilepsy, psychiatry, and neurology.

    PubMed

    Reynolds, Edward H; Trimble, Michael R

    2009-03-01

    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.

  18. Development and validation of the positive affect and well-being scale for the neurology quality of life (Neuro-QOL) measurement system

    PubMed Central

    Salsman, John M.; Victorson, David; Choi, Seung W.; Peterman, Amy H.; Heinemann, Allen W.; Nowinski, Cindy; Cella, David

    2013-01-01

    Purpose To develop and validate an item-response theory-based patient-reported outcomes assessment tool of positive affect and well-being (PAW). This is part of a larger NINDS-funded study to develop a health-related quality of life measurement system across major neurological disorders, called Neuro-QOL. Methods Informed by a literature review and qualitative input from clinicians and patients, item pools were created to assess PAW concepts. Items were administered to a general population sample (N = 513) and a group of individuals with a variety of neurologic conditions (N = 581) for calibration and validation purposes, respectively. Results A 23-item calibrated bank and a 9-item short form of PAW was developed, reflecting components of positive affect, life satisfaction, or an overall sense of purpose and meaning. The Neuro-QOL PAW measure demonstrated sufficient unidimensionality and displayed good internal consistency, test–retest reliability, model fit, convergent and discriminant validity, and responsiveness. Conclusion The Neuro-QOL PAW measure was designed to aid clinicians and researchers to better evaluate and understand the potential role of positive health processes for individuals with chronic neurological conditions. Further psychometric testing within and between neurological conditions, as well as testing in non-neurologic chronic diseases, will help evaluate the generalizability of this new tool. PMID:23526093

  19. Development and validation of the positive affect and well-being scale for the neurology quality of life (Neuro-QOL) measurement system.

    PubMed

    Salsman, John M; Victorson, David; Choi, Seung W; Peterman, Amy H; Heinemann, Allen W; Nowinski, Cindy; Cella, David

    2013-11-01

    To develop and validate an item-response theory-based patient-reported outcomes assessment tool of positive affect and well-being (PAW). This is part of a larger NINDS-funded study to develop a health-related quality of life measurement system across major neurological disorders, called Neuro-QOL. Informed by a literature review and qualitative input from clinicians and patients, item pools were created to assess PAW concepts. Items were administered to a general population sample (N = 513) and a group of individuals with a variety of neurologic conditions (N = 581) for calibration and validation purposes, respectively. A 23-item calibrated bank and a 9-item short form of PAW was developed, reflecting components of positive affect, life satisfaction, or an overall sense of purpose and meaning. The Neuro-QOL PAW measure demonstrated sufficient unidimensionality and displayed good internal consistency, test-retest reliability, model fit, convergent and discriminant validity, and responsiveness. The Neuro-QOL PAW measure was designed to aid clinicians and researchers to better evaluate and understand the potential role of positive health processes for individuals with chronic neurological conditions. Further psychometric testing within and between neurological conditions, as well as testing in non-neurologic chronic diseases, will help evaluate the generalizability of this new tool.

  20. The functional anatomy of recovery from auditory agnosia. A PET study of sound categorization in a neurological patient and normal controls.

    PubMed

    Engelien, A; Silbersweig, D; Stern, E; Huber, W; Döring, W; Frith, C; Frackowiak, R S

    1995-12-01

    H2(15)O-PET was used to investigate the functional anatomy of recovery in a patient (J.B.) with bilateral perisylvian strokes and auditory agnosia, who partially regained the ability to recognize environmental sounds, but remained clinically word-deaf. The patient and a group of six normal volunteers were scanned in the following three conditions: (i) passive listening to environmental sounds; (ii) categorization of environmental sounds; (iii) at rest. In normal subjects, passive listening as compared with rest was associated with significant activations in the auditory cortices and posterior thalami, and in the inferior parietal lobe and anterior insula/frontal opercular region on the right. In J.B., activations were observed in the spared auditory cortex and inferior parietal lobe of the right hemisphere and in regions adjacent to the perisylvian lesion in the left hemisphere (anterior insula/frontal opercular region, middle temporal gyrus and inferior parietal lobe). The recovered function, as measured by categorization of sounds compared with passive listening, in J.B. was associated with bilateral activation of a distributed network comprising (pre)frontal, middle temporal and inferior parietal cortices, as well as the right cerebellum and the right caudate nucleus. In addition, there was a left-sided activation of the anterior cingulate gyrus. In normal subjects, the same categorization task led to activation of a network comprising (pre)frontal, middle temporal and inferior parietal cortices in the left hemisphere only. These results suggest that bilateral activation (with recruitment of areas homologous to those known to be responsible for normal function), the engagement of peri-infarct regions, and the involvement of a more widespread neocortical network, are mechanisms of functional reorganization after injury that may enable recovery from, or compensation for, cognitive deficits.

  1. Paraneoplastic neurological syndromes

    PubMed Central

    Leypoldt, F; Wandinger, K-P

    2014-01-01

    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

  2. [Neurological sleep disorders].

    PubMed

    Khatami, Ramin

    2014-11-01

    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.

  3. Subtoxic chlorpyrifos treatment resulted in differential expression of genes implicated in neurological functions and development.

    PubMed

    Stapleton, Andrea R; Chan, Victor T

    2009-04-01

    Chlorpyrifos (CPF), a commonly used organophosphorus insecticide, induces acetylcholinesterase inhibition and cholinergic toxicity. Subtoxic exposure to CPF has long-term adverse effects on synaptic function/development and behavioral performance. To gain insight into the possible mechanism(s) of these observations, this study aims to investigate gene expression changes in the forebrain of rats treated with subtoxic CPF doses using DNA microarrays. Statistical analysis revealed that CPF treatment resulted in differential expression of 277 genes. Gene ontology and pathway analyses revealed that these genes have important roles in nervous system development and functions including axon guidance, dorso-ventral axis formation, long-term potentiation, synaptic transmission, and insulin signaling. The results of biological associated network analysis showed that Gsk3b is highly connected in several of these networks suggesting its potential role in cellular response to CPF exposure/neurotoxicity. These findings might serve as the basis for future mechanistic analysis of the long-term adverse effects of subtoxic CPF exposure.

  4. Child Neurology Services in Africa

    PubMed Central

    Wilmshurst, Jo M.; Badoe, Eben; Wammanda, Robinson D.; Mallewa, Macpherson; Kakooza-Mwesige, Angelina; Venter, Andre; Newton, Charles R.

    2013-01-01

    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. PMID:22019842

  5. Child neurology services in Africa.

    PubMed

    Wilmshurst, Jo M; Badoe, Eben; Wammanda, Robinson D; Mallewa, Macpherson; Kakooza-Mwesige, Angelina; Venter, Andre; Newton, Charles R

    2011-12-01

    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.

  6. Surface Monocline Development Along Normal Faults in Basalt, Southwest Iceland

    NASA Astrophysics Data System (ADS)

    Boersma, N. D.; Kattenhorn, S. A.

    2005-12-01

    The subaerial exposure of the Mid-Atlantic Ridge in southwest Iceland is characterized by a high angle of spreading obliquity (30°), resulting in a complex structural fabric along the ridge segment at the Reykjanes Peninsula (RP). Tension fractures, normal, oblique-slip, and strike-slip faults, eruptive fissures, and prominent hyaloclastite ridges demarcate a series of four closely-spaced fissure swarms across the length of the RP. Monoclines flank the hanging wall sides of numerous normal and oblique-slip faults in the fissure swarms. The formation of these surface flexures is likely the result of upward fault propagation from depth, facilitated by the growth of vertical fractures that nucleate at the upper fault tip and then rip through the highly fractured basalt lava pile. Subsurface slip along the buried fault causes a monocline to develop at the surface above the fault tip. As slip continues, the monocline grows in both height and width, accommodating throw at the surface purely by flexure. Bending stresses within the flexure induce tensile fracturing that breaches the upper hinge at the surface. Further movement along the underlying fault increases the dilation of this fracture resulting in a gaping chasm that may widen by collapse along the fracture walls. No throw occurs along this hinge fracture until the fault ultimately breaches the surface via the fracture. At this time, the monocline becomes a passive and detached hanging wall structure along a vertical fault scarp, thus preventing further growth of the flexure. Detailed field and aerial photo mapping from scanned then digitally orthorectified photos (0.125m/pixel) were used to analyze fracture style, surface monocline geometries, and to assess the spatial variability of monoclinal flexures across the RP and northwards into the Western Volcanic Zone (WVZ). To capture along-strike changes in monocline shape, elevation profiles were constructed at numerous locations along, and orthogonal to, fault

  7. Special report from the World Federation of Neurology. The worldwide impact of new drugs: development, distribution, and use.

    PubMed

    Bergen, D C

    1997-09-01

    Access to appropriate drug treatments and preventive agents for neurologic disorders is determined by medical, economic, political, social, and personal choices and policies. The development of new agents is dominated by large, often transnational companies located in economically advanced countries. Adequate breadth and stability of pharmaceutical supplies may be jeopardized by local economic, physical, and organizational constraints. Appropriate medical choices of drugs, their number, routes of administration, and sources, are made by physicians informed by their basic and continuing medical education but also influenced to varying degrees by patient expectation, financial incentives, and marketing information provided by the drug industry. Attempts to increase the availability of necessary drug treatment for all include initiatives by the World Health Organization, attention of national health planners to drug development, supply, and use, and industry-government cooperation. Although there are significant differences among countries, many national health planners have taken similar approaches: increasing attention to cost-effectiveness in prescribing and to competitive purchasing; the use of essential drug lists, formularies, and generic drugs; the devising of economic incentives for the development of needed but unprofitable drugs; careful planning of drug procurement and storage; and an emphasis on professional and patient education.

  8. From planes to brains: parallels between military development of virtual reality environments and virtual neurological surgery.

    PubMed

    Schmitt, Paul J; Agarwal, Nitin; Prestigiacomo, Charles J

    2012-01-01

    Military explorations of the practical role of simulators have served as a driving force for much of the virtual reality technology that we have today. The evolution of 3-dimensional and virtual environments from the early flight simulators used during World War II to the sophisticated training simulators in the modern military followed a path that virtual surgical and neurosurgical devices have already begun to parallel. By understanding the evolution of military simulators as well as comparing and contrasting that evolution with current and future surgical simulators, it may be possible to expedite the development of appropriate devices and establish their validity as effective training tools. As such, this article presents a historical perspective examining the progression of neurosurgical simulators, the establishment of effective and appropriate curricula for using them, and the contributions that the military has made during the ongoing maturation of this exciting treatment and training modality. Copyright © 2012. Published by Elsevier Inc.

  9. Neurological complications of coeliac disease

    PubMed Central

    Pengiran, T; Wills, A; Holmes, G

    2002-01-01

    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

  10. Childhood rituals: normal development or obsessive-compulsive symptoms?

    PubMed

    Leonard, H L; Goldberger, E L; Rapoport, J L; Cheslow, D L; Swedo, S E

    1990-01-01

    The symptoms of obsessive compulsive disorder (OCD) have been viewed as extreme variants of normal developmental rituals and superstitiousness; however, difference in timing, content, and severity argue against this continuum. In a systematic comparison of 38 children with severe primary OCD and 22 matched normal controls, parents were interviewed about their child's early developmental rituals and current superstitions. Children were asked about superstitious beliefs. Children with OCD did not differ significantly from controls in number or type of superstitions. However, parents of the OCD children reported significantly more "marked" patterns of early ritualistic behavior than did parents of normal controls. When behaviors resembling primary OCD symptoms were excluded, other rituals did not differ leaving open the possibility that such behaviors were early manifestations of the disorder. Only a prospective study can determine whether these results reflect preclinical OCD or are an artifact of biased recall.

  11. Development of dopamine receptor radiopharmaceuticals for the study of neurological and psychiatric disorders

    SciTech Connect

    Dr. Jogeshwar Mukherjee

    2009-01-02

    Our goals in this grant application are directed towards the development of radiotracers that may allow the study of the high-affinity state (functional state) of the dopamine receptors. There have been numerous reports on the presence of two inter-convertible states of these (G-protein coupled) receptors in vitro. However, there is no report that establishes the presence of these separate affinity states in vivo. We have made efforts in this direction in order to provide such direct in vivo evidence about the presence of the high affinity state. This understanding of the functional state of the receptors is of critical significance in our overall diagnosis and treatment of diseases that implicate the G-protein coupled receptors. Four specific aims have been listed in the grant application: (1). Design and syntheses of agonists (2). Radiosyntheses of agonists (3). In vitro pharmacology of agonists (4). In vivo distribution and pharmacology of labeled derivatives. We have accomplished the syntheses and radiosyntheses of three agonist radiotracers labeled with carbon-11. In vitro and in vivo pharmacological experiments have been accomplished in rats and preliminary PET studies in non-human primates have been carried out. Various accomplishments during the funded years, briefly outlined in this document, have been disseminated by several publications in various journals and presentations in national and international meetings (Society of Nuclear Medicine, Society for Neuroscience and International Symposium on Radiopharmaceutical Chemistry).

  12. Oligopeptidase A is required for normal phage P22 development.

    PubMed Central

    Conlin, C A; Vimr, E R; Miller, C G

    1992-01-01

    The opdA gene of Salmonella typhimurium encodes an endoprotease, oligopeptidase A (OpdA). Strains carrying opdA mutations were deficient as hosts for phage P22. P22 and the closely related phages L and A3 formed tiny plaques on an opdA host. Salmonella phages 9NA, KB1, and ES18.h1 were not affected by opdA mutations. Although opdA strains displayed normal doubling times and were infected by P22 as efficiently as opdA+ strains, the burst size of infectious particles from an opdA host was less than 1/10 of that from an opdA+ host. This decrease resulted from a reduced efficiency of plating of particles from an opdA infection. In the absence of a functional opdA gene, most of the P22 particles are defective. To identify the target of OpdA action, P22 mutants which formed plaques larger than wild-type plaques on an opdA mutant lawn were isolated. Marker rescue experiments using cloned fragments of P22 DNA localized these mutations to a 1-kb fragment. The nucleotide sequence of this fragment and a contiguous region (including all of both P22 gene 7 and gene 14) was determined. The mutations leading to opdA independence affected the region of gene 7 coding for the amino terminus of gp7, a protein required for DNA injection by the phage. Comparison of the nucleotide sequence with the N-terminal amino acid sequence of gp7 suggested that a 20-amino-acid peptide is removed from gp7 during phage development. Further experiments showed that this processing was opdA dependent and rapid (half-life, less than 2 min) and occurred in the absence of other phage proteins. The opdA-independent mutations lead to mutant forms of gp7 which function without processing. Images PMID:1522065

  13. Spinal Anesthesia in Infant Rats: Development of a Model and Assessment of Neurological Outcomes

    PubMed Central

    Yahalom, Barak; Athiraman, Umeshkumar; Soriano, Sulpicio G.; Zurakowski, David; Carpino, Elizabeth; Corfas, Gabriel; Berde, Charles B.

    2012-01-01

    Background Previous studies in infant rats and case-control studies of human infants undergoing surgery have raised concerns about potential neurodevelopmental toxicities of general anesthesia. Spinal anesthesia is an alternative to general anesthesia for some infant surgeries. To test for potential toxicity, we developed a spinal anesthesia model in infant rats. Methods Rats of postnatal ages 7, 14, and 21 days were assigned to: no treatment; 1% isoflurane for either 1 h or 6 h, or lumbar spinal injection of saline or bupivacaine, at doses of 3.75 mg/kg (low dose) or 7.5 mg/kg (high dose). Subgroups of animals underwent neurobehavioral testing and blood gas analysis. Brain and lumbar spinal cord sections were examined for apoptosis using cleaved caspase-3 immunostaining. Lumbar spinal cord was examined histologically. Rats exposed to spinal or general anesthesia as infants underwent Rotarod testing of motor performance as adults. Data were analyzed using analysis of variance (ANOVA) using general linear models, Friedman Tests, and Mann–Whitney U tests, as appropriate. Results Bupivacaine 3.75 mg/kg was effective for spinal anesthesia in all age groups, and produced sensory and motor function recovered in 40 to 60 min. Blood gases were similar among groups. Brain and spinal cord apoptosis increased in rats receiving 6 h of 1% isoflurane, but not among the other treatments. All groups showed intact motor performance at adulthood. Conclusions Spinal anesthesia is technically feasible in infant rats, and appears benign in terms of neuroapoptotic and neuromotor sequelae. PMID:21555934

  14. Development and validation of a computerized algorithm for International Standards for Neurological Classification of Spinal Cord Injury (ISNCSCI).

    PubMed

    Walden, K; Bélanger, L M; Biering-Sørensen, F; Burns, S P; Echeverria, E; Kirshblum, S; Marino, R J; Noonan, V K; Park, S E; Reeves, R K; Waring, W; Dvorak, M F

    2016-03-01

    Validation study. To describe the development and validation of a computerized application of the international standards for neurological classification of spinal cord injury (ISNCSCI). Data from acute and rehabilitation care. The Rick Hansen Institute-ISNCSCI Algorithm (RHI-ISNCSCI Algorithm) was developed based on the 2011 version of the ISNCSCI and the 2013 version of the worksheet. International experts developed the design and logic with a focus on usability and features to standardize the correct classification of challenging cases. A five-phased process was used to develop and validate the algorithm. Discrepancies between the clinician-derived and algorithm-calculated results were reconciled. Phase one of the validation used 48 cases to develop the logic. Phase three used these and 15 additional cases for further logic development to classify cases with 'Not testable' values. For logic testing in phases two and four, 351 and 1998 cases from the Rick Hansen SCI Registry (RHSCIR), respectively, were used. Of 23 and 286 discrepant cases identified in phases two and four, 2 and 6 cases resulted in changes to the algorithm. Cross-validation of the algorithm in phase five using 108 new RHSCIR cases did not identify the need for any further changes, as all discrepancies were due to clinician errors. The web-based application and the algorithm code are freely available at www.isncscialgorithm.com. The RHI-ISNCSCI Algorithm provides a standardized method to accurately derive the level and severity of SCI from the raw data of the ISNCSCI examination. The web interface assists in maximizing usability while minimizing the impact of human error in classifying SCI. This study is sponsored by the Rick Hansen Institute and supported by funding from Health Canada and Western Economic Diversification Canada.

  15. Babbling Development of Hearing-Impaired and Normally Hearing Subjects.

    ERIC Educational Resources Information Center

    Stoel-Gammon, Carol; Otomo, Kiyoshi

    1986-01-01

    Phonetic transcriptions of babbling samples from 11 normally hearing subjects, age 4-18 months, were compared with samples for 11 hearing-impaired students, age 4-28 months. Findings suggested both qualitative and quantitative differences in the babbling of the two groups. (Author/CL)

  16. The Complexity Signature: Developing a Tool to Communicate Biopsychosocial Severity of Disease for Children with Chronic Neurological Complexity.

    PubMed

    Krieg, Sandro M; Sonanini, Sebastian; Sollmann, Nico; Focke, Axel; Gerstl, Lucia; Heinen, Florian

    2016-08-01

    Aim For children with medical complexity, interdisciplinary treatment approaches are required to address the various aspects defined within the biopsychosocial model. Methods The present study identifies dimensions of the biopsychosocial model to generate a standardized visualized severity score for chronic neurological diseases in children. We demonstrate the score's applicability and usefulness in clinical practice among clinicians with and without pediatric board certification with the aid of illustrative patient cases. The results are compared by Spearman correlation coefficient. Results Nine dimensions were identified as the basis for the development of the score, which consists of five grades of severity for each of the selected neuropediatric subsections. All board-certified pediatricians would recommend the application of the severity score in clinical routine. Furthermore, a good correlation was revealed between direct and indirect (severity score) assessment. Interpretation The severity score developed in this study takes into account biopsychosocial aspects of chronic diseases while being comprehensible and easily applicable in clinical routine-a biopsychosocial signature serving as an excellent, striking communication basis within the interdisciplinary team. However, upcoming studies including more patient cases are needed for further refinement. Georg Thieme Verlag KG Stuttgart · New York.

  17. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

    PubMed Central

    Touraine, R L; Attié-Bitach, T; Manceau, E; Korsch, E; Sarda, P; Pingault, V; Encha-Razavi, F; Pelet, A; Augé, J; Nivelon-Chevallier, A; Holschneider, A M; Munnes, M; Doerfler, W; Goossens, M; Munnich, A; Vekemans, M; Lyonnet, S

    2000-01-01

    Waardenburg syndrome type 4 (WS4), also called Shah-Waardenburg syndrome, is a rare neurocristopathy that results from the absence of melanocytes and intrinsic ganglion cells of the terminal hindgut. WS4 is inherited as an autosomal recessive trait attributable to EDN3 or EDNRB mutations. It is inherited as an autosomal dominant condition when SOX10 mutations are involved. We report on three unrelated WS4 patients with growth retardation and an as-yet-unreported neurological phenotype with impairment of both the central and autonomous nervous systems and occasionally neonatal hypotonia and arthrogryposis. Each of the three patients was heterozygous for a SOX10 truncating mutation (Y313X in two patients and S251X [corrected] in one patient). The extended spectrum of the WS4 phenotype is relevant to the brain expression of SOX10 during human embryonic and fetal development. Indeed, the expression of SOX10 in human embryo was not restricted to neural-crest-derived cells but also involved fetal brain cells, most likely of glial origin. These data emphasize the important role of SOX10 in early development of both neural-crest-derived tissues, namely melanocytes, autonomic and enteric nervous systems, and glial cells of the central nervous system. PMID:10762540

  18. NEUROLOGICAL RESEARCH RELEVANT TO READING--1967.

    ERIC Educational Resources Information Center

    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…

  19. Child neurology practice and neurological disorders in East Africa.

    PubMed

    Idro, Richard; Newton, Charles; Kiguli, Sarah; Kakooza-Mwesige, Angelina

    2010-04-01

    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.

  20. Inflammatory responses in Multiple Sclerosis normal-appearing white matter and in non-immune mediated neurological conditions with wallerian axonal degeneration: A comparative study.

    PubMed

    Vercellino, M; Trebini, C; Capello, E; Mancardi, G L; Giordana, M T; Cavalla, P

    2017-11-15

    Inflammatory-like changes in the white matter (WM) are commonly observed in conditions of axonal degeneration by different etiologies. This study is a systematic comparison of the principal features of the inflammatory-like changes in the WM in different pathological conditions characterized by axonal damage/degeneration, focusing in particular on Multiple Sclerosis (MS) normal-appearing white matter (NAWM) compared to non immune-mediated disorders. The study was performed on sections of NAWM from 15 MS cases, 11 cases of non immune-mediated disorders with wallerian axonal degeneration (stroke, trauma, amyotrophic lateral sclerosis), 3 cases of viral encephalitis, 6 control cases. Common features of the inflammatory-like changes observed in all of the conditions of WM pathology were diffuse endothelial expression of VCAM-1, microglial activation with expression of M2 markers, increased expression of sphingosine receptors. Inflammation in MS NAWM was characterized, compared to non immune-mediated conditions, by higher VCAM-1 expression, higher density of perivascular lymphocytes, focal perivascular inflammation with microglial expression of M1 markers, ongoing acute axonal damage correlating with VCAM-1 expression but not with microglia activation. Inflammatory changes in MS NAWM share all the main features observed in the WM in non immune-mediated conditions with wallerian axonal degeneration (with differences to a large extent more quantitative than qualitative), but with superimposition of disease-specific perivascular inflammation and ongoing acute axonal damage. Copyright © 2017 Elsevier B.V. All rights reserved.

  1. Foreland normal fault control on northwest Himalayan thrust front development

    NASA Astrophysics Data System (ADS)

    Blisniuk, Peter M.; Sonder, Leslie J.; Lillie, Robert J.

    1998-10-01

    In the Trans-Indus Ranges along the western part of the northwest Himalayan thrust front, unconformities, changes in paleocurrent directions, and locally derived conglomerates in synorogenic foreland basin deposits provide evidence for major local deformation at ≥3.5 Ma. The tectonic history of the Trans-Indus Ranges has previously been described in terms of a single episode of major thrusting at ≤1 Ma, thus our work implies that there were two distinct phases of deformation. In conjunction with published evidence in the Salt Range to the east for two phases of deformation (˜6 to 5 Ma, and ˜2.5 Ma to present), this study demonstrates that these two phases of deformation are regionally significant and probably correlative along the entire present-day NW Himalayan thrust front. Reconstruction of possible source areas for the locally derived conglomerates shows that the earlier deformation is probably related to normal faulting. These results suggest that the tectonic evolution of the area along the present-day thrust front is characterized by (1) latest Miocene to early Pliocene formation of north dipping normal fault zones (total throw ≥ 600 m) within the foreland basin, related to syn-orogenic flexure of the Indian plate, and (2) late Pliocene to early Pleistocene initiation of south directed thrusting along the present-day thrust front, related to outward growth of the NW Himalayan thrust wedge. The location of the present-day thrust front appears to be controlled by north dipping normal faults and monoclines that formed during the earlier deformation and subsequently localized structural ramps during later thrusting.

  2. Neurological complications of infantile osteopetrosis.

    PubMed

    Lehman, R A; Reeves, J D; Wilson, W B; Wesenberg, R L

    1977-11-01

    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.

  3. Neurology on the internet.

    PubMed

    Henson, John W; Jung, Lily K

    2010-05-01

    Since the Internet's inception in 1969, neurologists have witnessed a continuous parade of innovative phases. There is tremendous potential for near-instantaneous dissemination of the latest developments in neurologic knowledge, although their value is dependent on the degree of awareness of neurologists and is limited by the reluctance of some sources to make information readily accessible. The encyclopedic nature of the Internet, with its vast resources of online information, may be diminished by issues of access, variable quality and reliability, and a lack of intelligent retrieval systems. A major hindrance, for example, is seen with restrictions on archival, but proprietary, neurologic literature. Neurologic patients and their caregivers use the Internet heavily, but for somewhat different reasons. It is important for neurologists to understand these differences. The emergence of the online Personal Health Record will become increasingly valuable as these sites evolve and more medical providers incorporate electronic applications and medical records into their practices. Online groups for neurologists with similar interests, often referred to as "networks," have the potential to catalyze the natural organizing tendencies among those seeking solutions to shared problems. Networking can function well for neurologists, neurologic patients, and for focused efforts in an area such as advocacy. These considerations are discussed in this article. Copyright 2010 Elsevier Inc. All rights reserved.

  4. EUV near normal incidence collector development at SAGEM

    NASA Astrophysics Data System (ADS)

    Mercier Ythier, R.; Bozec, X.; Geyl, R.; Rinchet, A.; Hecquet, Christophe; Ravet-Krill, Marie-Françoise; Delmotte, Franck; Sassolas, Benoît; Flaminio, Raffaele; Mackowski, Jean-Marie; Michel, Christophe; Montorio, Jean-Luc; Morgado, Nazario; Pinard, Laurent; Roméo, Elodie

    2008-03-01

    Through its participation to European programs, SAGEM has worked on the design and manufacturing of normal incidence collectors for EUV sources. By opposition to grazing incidence, normal incidence collectors are expected to collect more light with a simpler and cheaper design. Designs are presented for the two current types of existing sources: Discharge Produced Plasma (DPP) and Laser Produced Plasma (LPP). Collection efficiency is calculated in both cases. It is shown that these collectors can achieve about 10 % efficiency for DPP sources and 40 % for LPP sources. SAGEM works on the collectors manufacturability are also presented, including polishing, coating and cooling. The feasibility of polishing has been demonstrated with a roughness better than 2 angstroms obtained on several materials (glass, silicon, Silicon Carbide, metals...). SAGEM is currently working with the Institut d'Optique and the Laboratoire des Materiaux Avancés on the design and the process of EUV coatings for large mirrors. Lastly, SAGEM has studied the design and feasibility of an efficient thermal control, based on a liquid cooling through slim channels machined close to the optical surface.

  5. Neurologic manifestations of malabsorption syndromes.

    PubMed

    Pfeiffer, Ronald F

    2014-01-01

    Although malabsorption is generally considered to be a gastrointestinal problem, the effects of malabsorption extend far beyond the gastrointestinal tract and can include neurologic dysfunction. Malabsorption may occur by a variety of mechanisms, both genetic and acquired, that interfere with the absorption of basic nutrients, vitamins, minerals, and trace elements. Disorders that interfere with fat absorption can lead to neurologic dysfunction as a consequence of associated impairment of fat-soluble vitamin absorption. Thus, individuals with genetic vitamin E deficiency and the familial hypocholesterolemias may develop symptoms of peripheral neuropathy, cerebellar ataxia, and other neurologic signs and symptoms. Disease processes that damage the enteric mucosa and produce malabsorption can trigger neurologic dysfunction both by immune-related processes, as in celiac disease, and by impairing absorption of essential vitamins and other nutrients, as in tropical sprue. Deficiencies of water-soluble vitamins, such as thiamine and niacin, can also develop in the setting of malabsorption and lead to neurologic dysfunction. Neurologists are aware of the neurologic damage that copper excess can cause in Wilson's disease, but copper deficiency due to malabsorption can also produce neurologic dysfunction in the form of myelopathy. It is vitally important for neurologists to be aware of the potential for malabsorptive processes to produce neurologic dysfunction, because effective treatment for such disorders is often available. © 2014 Elsevier B.V. All rights reserved.

  6. Severe neurologic manifestations in acute intermittent porphyria developed after spine surgery under general anesthesia: a case report

    PubMed Central

    Park, Eun Young; Kim, Yi Seul; Lim, Kyung-Jee; Lee, Hye Kyoung; Lee, Soo Kyung; Choi, Hyun

    2014-01-01

    Porphyrias are inherited metabolic disorders resulting from a specific enzyme defect in the heme biosynthetic pathway. Porphyrias are induced by various precipitants. Clinical features include abdominal pain, neurologic manifestations, autonomic neuropathy, and mental disturbance. Diagnosis may be delayed because of variable symptoms that mimic other diseases and because of the rarity of of porphyrias. Although most patients with known porphyria can complete anesthesia and surgery safely, undiagnosed porphyric patients are in danger of porphyric crisis due to inadvertent exposure to precipitating drugs and environment. We report a case of a patient who experienced delayed emergence with neurological disturbance after general anesthesia, ultimately diagnosed as acute intermittent porphyria. PMID:25302100

  7. Symbolic Play and Early Language Development in Normal Children.

    ERIC Educational Resources Information Center

    Ogura, Tamiko

    Examined in a longitudinal study of children were correspondences and correlations between early language development on the one hand, and the manipulation of objects and play development on the other. There were developmental correspondences between the onset of five language landmarks (the emergence of first word, referential word, demonstrative…

  8. Neurologic complications following bone marrow transplantation for sickle cell disease.

    PubMed

    Abboud, M R; Jackson, S M; Barredo, J; Holden, K R; Cure, J; Laver, J

    1996-03-01

    A boy with sickle cell anemia underwent bone marrow transplantation (BMT). He was normal on neurological examination, but had radiologic evidence of an old left frontal lobe infarct, multiple cerebral vascular stenoses and moyamoya collaterals. After BMT he developed seizures with extension of the infarct and subarachnoid hemorrhage. One year later angiography revealed worsening stenosis of the M1 segments of both middle cerebral arteries. At that time an increase in von Willebrand's factor with decreased large molecular weight multimers (LvWF) was observed. We speculate that LvWF dependent, shear-induced platelet aggregation, together with endothelial damage may have contributed to the development of neurologic complications in this patient.

  9. Cerebral ventricular size in developing normal kittens measured by ultrasonography.

    PubMed

    Jäderlund, Karin Hultin; Hansson, Kerstin; Berg, Anna-Lena; Sjöström, Anders; Narfström, Kristina

    2003-01-01

    To evaluate the age of fontanelle closure of normal kittens and the size of their lateral ventricles, 50 ultrasonographic examinations using the bregmatic fontanelle as an acoustic window were made. Seven kittens, laboratory animals, were included in the study. To verify the location of the lateral ventricle, two of the kittens were sacrificed as neonates. In one of them ink was injected prior to autopsy into one lateral ventricle under sonographic guidance. In a longitudinal study of five of the kittens, the skull depth and the depth of the central part of the lateral ventricle reproduced in a longitudinal view could be measured up to the age of about 5 months. During that period, the skull depth increased from a median value of 1.95 cm (1.92-1.98) in a seven-day-old cat to 2.58 cm (2.52-2.59) in a 154-day-old cat, while the afore-mentioned ventricle values increased from 0.3 mm to 1.1 mm.

  10. Understanding normal development of adolescent sexuality: A bumpy ride

    PubMed Central

    Kar, Sujita Kumar; Choudhury, Ananya; Singh, Abhishek Pratap

    2015-01-01

    Adolescence, derived from the Latin word “adolescere” meaning “to grow up” is a critical developmental period. During adolescence, major biological as well as psychological developments take place. Development of sexuality is an important bio-psycho-social development, which takes an adult shape during this period. During adolescence, an individual's thought, perception as well as response gets colored sexually. Puberty is an important landmark of sexuality development that occurs in the adolescence. The myriad of changes that occurs in adolescents puts them under enormous stress, which may have adverse physical, as well as psychological consequences. Understanding adolescent sexuality has important clinical, legal, social, cultural, as well as educational implications. PMID:26157296

  11. Human T cell leukemia virus type I and neurologic disease: events in bone marrow, peripheral blood, and central nervous system during normal immune surveillance and neuroinflammation.

    PubMed

    Grant, Christian; Barmak, Kate; Alefantis, Timothy; Yao, Jing; Jacobson, Steven; Wigdahl, Brian

    2002-02-01

    Human T cell lymphotropic/leukemia virus type I (HTLV-I) has been identified as the causative agent of both adult T cell leukemia (ATL) and HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP). Although the exact sequence of events that occur during the early stages of infection are not known in detail, the initial route of infection may predetermine, along with host, environmental, and viral factors, the subset of target cells and/or the primary immune response encountered by HTLV-I, and whether an HTLV-I-infected individual will remain asymptomatic, develop ATL, or progress to the neuroinflammatory disease, HAM/TSP. Although a large number of studies have indicated that CD4(+) T cells represent an important target for HTLV-I infection in the peripheral blood (PB), additional evidence has accumulated over the past several years demonstrating that HTLV-I can infect several additional cellular compartments in vivo, including CD8(+) T lymphocytes, PB monocytes, dendritic cells, B lymphocytes, and resident central nervous system (CNS) astrocytes. More importantly, extensive latent viral infection of the bone marrow, including cells likely to be hematopoietic progenitor cells, has been observed in individuals with HAM/TSP as well as some asymptomatic carriers, but to a much lesser extent in individuals with ATL. Furthermore, HTLV-I(+) CD34(+) hematopoietic progenitor cells can maintain the intact proviral genome and initiate viral gene expression during the differentiation process. Introduction of HTLV-I-infected bone marrow progenitor cells into the PB, followed by genomic activation and low level viral gene expression may lead to an increase in proviral DNA load in the PB, resulting in a progressive state of immune dysregulation including the generation of a detrimental cytotoxic Tax-specific CD8(+) T cell population, anti-HTLV-I antibodies, and neurotoxic cytokines involved in disruption of myelin-producing cells and neuronal degradation

  12. Somatic Mutation, Genomic Variation, and Neurological Disease

    PubMed Central

    Poduri, Annapurna; Evrony, Gilad D.; Cai, Xuyu; Walsh, Christopher A.

    2014-01-01

    Genetic mutations causing human disease are conventionally thought to be inherited through the germ line from one’s parents and present in all somatic (body) cells, except for most cancer mutations, which arise somatically. Increasingly, somatic mutations are being identified in diseases other than cancer, including neurodevelopmental diseases. Somatic mutations can arise during the course of prenatal brain development and cause neurological disease—even when present at low levels of mosaicism, for example—resulting in brain malformations associated with epilepsy and intellectual disability. Novel, highly sensitive technologies will allow more accurate evaluation of somatic mutations in neurodevelopmental disorders and during normal brain development. PMID:23828942

  13. Neurological and Biological Foundations of Children's Social and Emotional Development: An Integrated Literature Review

    ERIC Educational Resources Information Center

    Nelson, Helen Jean; Kendall, Garth Edward; Shields, Linda

    2014-01-01

    This article provides an integrated review of the expert literature on developmental processes that combine social, biological, and neurological pathways, and the mechanisms through which these pathways may influence school success and health. It begins with a historical overview of the current understanding of how attachment relationships and…

  14. Neurological and Biological Foundations of Children's Social and Emotional Development: An Integrated Literature Review

    ERIC Educational Resources Information Center

    Nelson, Helen Jean; Kendall, Garth Edward; Shields, Linda

    2014-01-01

    This article provides an integrated review of the expert literature on developmental processes that combine social, biological, and neurological pathways, and the mechanisms through which these pathways may influence school success and health. It begins with a historical overview of the current understanding of how attachment relationships and…

  15. Clinical neurological examination of infants and children.

    PubMed

    Haslam, Robert H A

    2013-01-01

    A thorough but focused history and neurological examination remain the most important initial elements of neurological diagnosis at all ages. Advances over the past two decades in clinical neurophysiology, neuroimaging, genetics, and neuropathological examination of tissue have at times appeared to predominate over traditional history and physical exam, but no laboratory studies can provide the focus and clues to diagnosis that clinical findings offer. History taking and the techniques of neurological examination are skills to be learned by the student, refined by the resident, and practiced and perfected throughout the career of a pediatric neurologist. Examination must be specifically modified to correspond to age and with the expectation of developmental skills achieved at various ages, in addition to the localizing value of particular signs that may apply at all ages. Hypotonia, extensor plantar responses, and lack of visual fixation may be normal in a preterm infant but abnormal at several months of age. "Primitive" reflexes disappear at a certain age, but really are only suppressed or inhibited and may become re-expressed with disinhibition many decades later. Finally, the pediatric neurologist needs to have a firm foundation in normal development, neuroembryology, and changes in the expression of diseases at various stages of maturation of the nervous system.

  16. [Heritability and environment in normal and abnormal development].

    PubMed

    Lejarraga, Horacio

    2010-12-01

    The environmental influence on human development can be studied by assessing similarities and discrepancies in developmental traits between biological and adopted siblings and twins, reared together and reared apart. Approximately 50% of total variance of general cognitive ability in a given population can be explained by the environment. This influence gradually decreases with age, from infancy to adulthood. Two types of environments can be distinguished: shared and non shared. The former one, acts predominantly in childhood, and the non shared environment becomes more important in adulthood. Paradoxically, quantitative genetics can make a significant contribution to knowledge on the influence of environment on human development.

  17. Experimental induction of equine protozoan myeloencephalitis (EPM) in the horse: effect of Sarcocystis neurona sporocyst inoculation dose on the development of clinical neurologic disease.

    PubMed

    Sofaly, C D; Reed, S M; Gordon, J C; Dubey, J P; Ogleebee, M J; Njoku, C J; Grover, D L; Saville, W J A

    2002-12-01

    The effect of inoculation dose of Sarcocystis neurona sporocysts on the development of clinical neurologic disease in horses was investigated. Twenty-four seronegative weanling horses were subjected to the natural stress of transport and then randomly assigned to 6 treatment groups of 4 horses each. Horses were then immediately inoculated with either 10(2), 10(3), 10(4), 10(5), or 10(6) S. neurona sporocysts or placebo using nasogastric tube and housed indoors. Weekly neurologic examinations were performed by a blinded observer. Blood was collected weekly for antibody determination by Western blot analysis. Cerebrospinal fluid was collected before inoculation and before euthanasia for S. neurona antibody determination. Horses were killed and necropsied between 4 and 5 wk after inoculation. Differences were detected among dose groups based on seroconversion times, severity of clinical neurologic signs, and presence of microscopic lesions. Seroconversion of challenged horses was observed as early as 14 days postinfection in the 10(6) sporocyst dose group. Mild to moderate clinical signs of neurologic disease were produced in challenged horses from all groups, with the most consistent signs seen in the 10(6) sporocyst dose group. Histologic lesions suggestive of S. neurona infection were detected in 4 of the 20 horses fed sporocysts. Parasites were not detected in equine tissues by light microscopy, immunohistochemistry, or bioassay in gamma-interferon gene knockout mice. Control horses remained seronegative for the duration of the study and had no histologic evidence of protozoal infection.

  18. Using the Neurofibromatosis Tumor Predisposition Syndromes to Understand Normal Nervous System Development

    PubMed Central

    Gutmann, David H.

    2014-01-01

    Development is a tightly regulated process that involves stem cell self-renewal, differentiation, cell-to-cell communication, apoptosis, and blood vessel formation. These coordinated processes ensure that tissues maintain a size and architecture that is appropriate for normal tissue function. As such, tumors arise when cells acquire genetic mutations that allow them to escape the normal growth constraints. In this regard, the study of tumor predisposition syndromes affords a unique platform to better understand normal development and the process by which normal cells transform into cancers. Herein, we review the processes governing normal brain development, discuss how brain cancer represents a disruption of these normal processes, and highlight insights into both normal development and cancer made possible by the study of tumor predisposition syndromes. PMID:25243094

  19. Normal and abnormal development of the blood-brain barrier.

    PubMed

    Farrell, C L; Risau, W

    1994-04-15

    The blood-brain barrier is responsible for the maintenance of the neuronal microenvironment. This is accomplished by isolation of the brain from the blood by the tight junctions that join endothelial cells in cerebral microvessels, and by selective transport and metabolism of substances from blood or brain by the endothelial cells. This review describes the growth and maturation of the brain vasculature, and the development of the special properties of the endothelia at the blood-brain interface. Evidence suggests that the development of the unique properties of the brain microvasculature is a consequence of tissue-specific interactions between endothelial cells of extraneural origin and developing brain cells. The cellular and molecular mechanisms that control these processes are as yet unknown but this review will include experimental studies which have used in vivo and in vitro systems to investigate what factors may be involved, and some pathological conditions in which abnormal barrier development is thought to be an important aspect of the disease process.

  20. Is Phonology Bypassed in Normal or Dyslexic Development?

    ERIC Educational Resources Information Center

    Pennington, Bruce F.; And Others

    1987-01-01

    Two studies involving 215 subjects tested the hypothesis that orthographic coding bypasses phonological coding after the early stages of reading or spelling. It was found that nondyslexics continue to develop phonological coding skill until adulthood and rely on it for reading and spelling to a significantly greater extent than do dyslexics.…

  1. Transgenic mice expressing caspase-6-derived N-terminal fragments of mutant huntingtin develop neurologic abnormalities with predominant cytoplasmic inclusion pathology composed largely of a smaller proteolytic derivative

    PubMed Central

    Tebbenkamp, Andrew T.N.; Green, Cameron; Xu, Guilian; Denovan-Wright, Eileen M.; Rising, Aaron C.; Fromholt, Susan E.; Brown, Hilda H.; Swing, Debbie; Mandel, Ronald J.; Tessarollo, Lino; Borchelt, David R.

    2011-01-01

    Recent studies have implicated an N-terminal caspase-6 cleavage product of mutant huntingtin (htt) as an important mediator of toxicity in Huntington's disease (HD). To directly assess the consequences of such fragments on neurologic function, we produced transgenic mice that express a caspase-6 length N-terminal fragment of mutant htt (N586) with both normal (23Q) and disease (82Q) length glutamine repeats. In contrast to mice expressing N586-23Q, mice expressing N586-82Q accumulate large cytoplasmic inclusion bodies that can be visualized with antibodies to epitopes throughout the N586 protein. However, biochemical analyses of aggregated mutant huntingtin in these mice demonstrated that the inclusion bodies are composed largely of a much smaller htt fragment (terminating before residue 115), with lesser amounts of full-length N586-82Q fragments. Mice expressing the N586-82Q fragment show symptoms typical of previously generated mice expressing mutant huntingtin fragments, including failure to maintain weight, small brain weight and reductions in specific mRNAs in the striatum. Uniquely, these N586-82Q mice develop a progressive movement disorder that includes dramatic deficits in motor performance on the rotarod and ataxia. Our findings suggest that caspase-6-derived fragments of mutant htt are capable of inducing novel HD-related phenotypes, but these fragments are not terminal cleavage products as they are subject to further proteolysis. In this scenario, mutant htt fragments derived from caspase 6, or possibly other proteases, could mediate HD pathogenesis via a ‘hit and run' type of mechanism in which caspase-6, or other larger N-terminal fragments, mediate a neurotoxic process before being cleaved to a smaller fragment that accumulates pathologically. PMID:21515588

  2. Neurology or rehabilitation medicine?

    PubMed Central

    McLellan, D L

    1992-01-01

    Rehabilitation is a process of active change by which a person who is disabled acquires and uses the knowledge and skills necessary for optimal physical, psychological and social function. Rehabilitation medicine is now established in Britain as a specialty concerned primarily with three groups: 1) those with multiple disability; 2) disabled people undergoing personal or social transitions, for example, school leavers; and 3) those with disabilities requiring complex technical or medical solutions. Rehabilitation medicine is distinguished from traditional clinical neurology by its emphasis on teamwork and on the analysis and reduction of disability rather than the diagnosis and treatment of impairment. Both neurology and rehabilitation medicine are dwarfed by the size of the problems they are expected to overcome and there is no justification for competition between the two specialties. The training of neurologists requires fundamental changes if they are to be equipped to assist rehabilitation effectively and contribute to the scientific development of the subject. PMID:1532980

  3. Clinical neurology of ferrets.

    PubMed

    Diaz-Figueroa, Orlando; Smith, Mary O

    2007-09-01

    Neurology represents an important specialty within ferret clinical medicine. Veterinarians should become familiar with the unique anatomic and physiologic differences between ferrets to improve their management of theses cases. In addition, veterinarians should use available diagnostic tests to confirm the presence of neurologic diseases. Recent advances in ferret medicine and veterinary neurology offer new capabilities to investigate and treat neurological disease in ferrets.

  4. Neuroimaging Studies of Normal Brain Development and Their Relevance for Understanding Childhood Neuropsychiatric Disorders

    ERIC Educational Resources Information Center

    Marsh, Rachel; Gerber, Andrew J.; Peterson, Bradley S.

    2008-01-01

    Neuroimaging findings which identify normal brain development trajectories are presented. Results show that early brain development begins with the neural tube formation and ends with myelintation. How disturbances in brain development patterns are related to childhood psychiatric disorders is examined.

  5. Neuroimaging Studies of Normal Brain Development and Their Relevance for Understanding Childhood Neuropsychiatric Disorders

    ERIC Educational Resources Information Center

    Marsh, Rachel; Gerber, Andrew J.; Peterson, Bradley S.

    2008-01-01

    Neuroimaging findings which identify normal brain development trajectories are presented. Results show that early brain development begins with the neural tube formation and ends with myelintation. How disturbances in brain development patterns are related to childhood psychiatric disorders is examined.

  6. Neurological assessment of Chinese infants with positional plagiocephaly using a Chinese version of the Infant Neurological International Battery (INFANIB).

    PubMed

    Zhao, Xue-Qing; Wang, Li-Yan; Zhao, Cong-Min; Men, Qing; Wu, Zhi-Feng; Zhang, Yu-Ping

    2017-02-01

    Positional plagiocephaly (PP) is the most common subtype of asymmetric deformity in the infant skull. Cumulative evidence has demonstrated that PP is associated with abnormal neuromotor development; however, neurological assessment scores of infants with PP have not been well established, and PP has not attracted sufficient attention in China. This study used a Chinese version of the Infant Neurological International Battery (INFANIB) to identify neurological abnormalities among infants with PP and to determine the differences between infants with different (mild, moderate, and severe) degrees of PP. We compared the neurological evaluation scores between 393 infants with different degrees of PP and 390 healthy infants from 0 to 18 months of age using a Chinese version of the INFANIB. The infants with PP aged 0-7.9 months had lower scores on the spasticity, head and trunk, leg, and French angle subscales and lower total scores than the normal infants. Additionally, the infants with PP aged 9-18 months showed statistically significantly lower scores on the spasticity, head and trunk, vestibular function, leg, and French angle subscales and total scores than the normal infants. Among the PP subgroups, the infants with mild PP had the highest scores, followed by the infants with moderate PP and the infants with severe PP. Compared with the normal infants, the infants with PP had abnormal neurological assessment scores, and the degree of neurological abnormality was associated with the severity of PP. The INFANIB revealed neurological abnormalities, including asymmetric movements and abnormal muscle tone, postures, and reflexes, in infants with PP, especially those with moderate or severe PP. These abnormalities were similar to those of infants with cerebral palsy. Therefore, PP may serve as a marker of neurodevelopmental risk and should receive considerable attention. Whether moderate or severe PP is related to cerebral palsy remains to be confirmed in long

  7. GABAA Receptors in Normal Development and Seizures: Friends or Foes?

    PubMed Central

    Galanopoulou, Aristea S

    2008-01-01

    GABAA receptors have an age-adapted function in the brain. During early development, they mediate excitatory effects resulting in activation of calcium sensitive signaling processes that are important for the differentiation of the brain. In more mature stages of development and in adults, GABAA receptors transmit inhibitory signals. The maturation of GABAA signaling follows sex-specific patterns, which appear to also be important for the sexual differentiation of the brain. The inhibitory effects of GABAA receptor activation have been widely exploited in the treatment of conditions where neuronal silencing is necessary. For instance, drugs that target GABAA receptors are the mainstay of treatment of seizures. Recent evidence suggests however that the physiology and function of GABAA receptors changes in the brain of a subject that has epilepsy or status epilepticus. This review will summarize the physiology of and the developmental factors regulating the signaling and function of GABAA receptors; how these may change in the brain that has experienced prior seizures; what are the implications for the age and sex specific treatment of seizures and status epilepticus. Finally, the implications of these changes for the treatment of certain forms of medically refractory epilepsies and status epilepticus will be discussed. PMID:19305785

  8. [Pediatric neurology and genetics: introduction].

    PubMed

    Castro-Gago, M

    Heredity plays a role in a large proportion of pediatric neurologic disorders, and the spectacular recent developments in molecular genetics have contributed to improved understanding of the basic causes of many diseases and neurodevelopmental abnormalities. To provide a brief introduction to certain genetic aspects of neuropediatrics. We consider the following aspects: 1) The importance of hereditary factors in pediatric neurology; 2) The different types of inheritance relevant in this context; 3) Nosologic, diagnostic and therapeutic implications of recent advances in molecular genetics; 4) Bioethical implications of the application of this new understanding. Independently of enhanced treatment prospects, progress in molecular genetics has improved the nosology and diagnosis of many pediatric neurological disorders.

  9. Neurology and literature 2.

    PubMed

    Iniesta, I

    2014-05-01

    Good literary fiction has the potential to move us, extend our sense of life, transform our prospective views and help us in the face of adversity. A neurological disorder is likely to be the most challenging experience a human being may have to confront in a lifetime. As such, literary recreations of illnesses have a doubly powerful effect. Study the synergies between neurology and fictional literature with particular reference to narrative based medicine (NBM). Doctors establish boundaries between the normal and the abnormal. Taking a clinical history is an act of interpretation in which the doctor integrates the science of objective signs and measurable quantities with the art of subjective clinical judgment. The more discrepancy there is between the patient's experience with the illness and the doctor's interpretation of that disease, the less likely the doctor-patient interaction is to succeed. NBM contributes to a better discernment of the meanings, thus considering disease as a biographical event rather than just a natural fact. Drawing from their own experience with disease, writers of fiction provide universal insights through their narratives, whilst neuroscientists, like Cajal, have occasionally devoted their scientific knowledge to literary narratives. Furthermore, neurologists from Alzheimer to Oliver Sacks remind us of the essential value of NBM in the clinic. Integrating NBM (the narrative of patients) and the classic holistic approach to patients with our current paradigm of evidence based medicine represents a challenge as relevant to neurologists as keeping up with technological and scientific advances. Copyright © 2011 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  10. Long Term Consequences: Effects on Normal Development Profile after Concussion

    PubMed Central

    Daneshvar, Daniel H.; Riley, David O.; Nowinski, Christopher J.; McKee, Ann C.; Stern, Robert A.; Cantu, Robert C.

    2011-01-01

    Each year in the United States, approximately 1.7 million people are diagnosed with a traumatic brain injury (TBI); an estimated 75% of these injuries are classified as mild TBIs (mTBI) or concussions. The symptoms of such injuries include a variety of somatic, cognitive, and behavioral deficits. While these symptoms typically resolve in a matter of weeks, both children and adults may suffer from Post-Concussion Syndrome (PCS) for months or longer. Suffering from PCS-related symptoms for an extended time may delay an individual’s return to work, adversely affect one’s quality of life, and result in additional social and economic costs. Though a consensus has not been reached on the cause of long-term PCS, it is likely that biological, physiological, psychological, and social elements all play a role in symptom persistence. Additionally, persistent PCS may adversely affect one’s developmental trajectory. The enduring effects of head trauma are not limited to PCS-related effects, however. A progressive tauopathy, chronic traumatic encephalopathy (CTE) is believed to stem from repeated brain trauma. While CTE was originally associated with boxing, it has recently been found in other cases of repetitive head injury including former football and hockey players, and professional wrestlers. In addition to this observed pathology, repetitive brain trauma is also associated with Alzheimer’s-like dementia, Parkinsonism, and motor neuron disease including Amyotrophic Lateral Sclerosis (ALS). With these significant long-term effects of head injuries, there is a clear need to develop effective diagnoses, treatments, and education plans to reduce future burden and incidence. PMID:22050943

  11. [Development of the normal infantile hip joints assessed by MRI].

    PubMed

    Wierusz-Kozłowska, M; Ziemiański, A; Kruczyński, J; Borkowski, W

    2000-01-01

    The paper provides an overview of the time of appearance of the secondary ossification centers and closure of the growth plates of the acetabulum and proximal epiphysis of the femur: the triradiate cartilage, the acetabular roof growth cartilage, the subcapital growth cartilage, the growth cartilage of the major trochanter, the growth cartilage of the minor trochanter. The study is based upon 62 MRI scans of healthy hips in 45 patients aged 3-21. The examined hips showed no pathologic traits--neither in the MRI scan nor in X-ray investigation. In Spin Echo and Turbo Spin Echo sequential imaging all obtained slices were used, on GRADIENT ECHO: FISP 3D, FLASH 2D, and FLASH 3D FAT SAT only chosen slices were included in the study. This way the following results were obtained: the ossification center of the major trochanter appears at the age of 3 in girls and at the age of 6 in boys, while the ossification center of the minor trochanter appears at the age of 6 in both sexes. The times of complete ossification of following growth cartilages were observed: for the triradiate cartilage ossification was observed at age 12-15 in girls and 15-16 in boys; for the cartilage of the acetabular roof ossification was noted at age 12-15 in girls and 15-18 in boys; ossification in the subcapital growth cartilage occurred at age 15-17 in girls and 16-18 in boys; the major trochanter growth cartilage ossifies at age 15-16 in girls and 16-18 in boys; for the minor trochanter ossification of the growth cartilage occurs at age 14-16 in girls and at age 16-18 in boys. The secondary ossification center of the pubic bone appears at age 9-11 in girls and 13-16 in boys and the secondary ossification center of the acetabular roof appears at age 13-17 in girls and boys. This study expand our knowledge on the development of the hip joint and facilitate the assessment of hip pathology.

  12. Adult phenylketonuria presenting with subacute severe neurologic symptoms.

    PubMed

    Seki, M; Takizawa, T; Suzuki, S; Shimizu, T; Shibata, H; Ishii, T; Hasegawa, T; Suzuki, N

    2015-08-01

    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. Copyright © 2015 Elsevier Ltd. All rights reserved.

  13. The Inadequacy of MLU as a Matching Criteria for Normally Developing and Handicapped Subjects.

    ERIC Educational Resources Information Center

    Hemmeter, Mary Louise; And Others

    The adequacy of mean length of utterance (MLU) as a criterion for matching retarded and normally developing children was investigated. Six normally developing and four retarded subjects were matched on MLU. Although matched on MLU, these two groups of children demonstrated both quantitative and qualitative differences in their use of language.…

  14. Deja vu in neurology.

    PubMed

    Wild, Edward

    2005-01-01

    The significance of deja vu is widely recognised in the context of temporal lobe epilepsy, and enquiry about deja vu is frequently made in the clinical assessment of patients with possible epilepsy. Deja vu has also been associated with several psychiatric disorders. The historical context of current understanding of deja vu is discussed. The literature reveals deja vu to be a common phenomenon consistent with normality. Several authors have suggested the existence of a "pathological" form of deja vu that differs, qualitatively or quantitatively, from "non-pathological" deja vu. The features of deja vu suggesting neurological or psychiatric pathology are discussed. Several neuroanatomical and psychological models of the deja vu experience are highlighted, implicating the perceptual, mnemonic and affective regions of the lateral temporal cortex, hippocampus and amygdala in the genesis of deja vu. A possible genetic basis for a neurochemical model of deja vu is discussed. Clinical approaches to the patient presenting with possible deja vu are proposed.

  15. Depressive syndromes in neurological disorders.

    PubMed

    Hellmann-Regen, Julian; Piber, Dominique; Hinkelmann, Kim; Gold, Stefan M; Heesen, Christoph; Spitzer, Carsten; Endres, Matthias; Otte, Christian

    2013-11-01

    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.

  16. [Relationship between neurological deficit and intelligence quotient in children and adolescents].

    PubMed

    Manaut-Gil, E; Vaquero-Casares, E; Quintero-Gallego, E; Pérez-Santamaría, J; Gómez-González, C M

    The relationship between developmental and mental deficits due to genetic or acquired causes is well established. However the possible relationship between neurological signs and intellectual development has not been sufficiently studied. We have conducted a transversal study to test the possible association between neurological signs and psychometric measures in children and young adolescents. 123 patients were neurologically explored (ages between 54-185 months), 36 girls and 87 boys. These subjects were neurologically and psychometrically tested during a period of 3 years. Contingency tables, chi squared tests, discriminant analysis and ROC curves were used for statistical analysis. This statistic allowed to establish the contingencies between neurological signs (presence or absence) and intelligence quotient (IQ) groups (low and normal scores). The results showed a statistically significant relationship between IQ and the presence of 7 neurological signs (chi2=6.213; p=0.013). The discriminant analysis classified correctly 77.2% of subjects. The ROC curves indicated a high sensitivity and specificity if subjects presented more than 3 neurological signs. The frequency analysis established the more discriminant neurological signs. The obtained results in children with learning and behavioural disabilities suggest comorbidity between low IQ and neurological signs. This association is more marked in the group of children than in the pre- and adolescent group.

  17. Why neurology? Factors which influence career choice in neurology.

    PubMed

    Albert, Dara V; Hoyle, Chad; Yin, Han; McCoyd, Matthew; Lukas, Rimas V

    2016-01-01

    To evaluate the factors which influence the decision to pursue a career in neurology. An anonymous survey was developed using a Likert scale to rate responses. The survey was sent to adult and child neurology faculty, residents and fellows, as well as medical students applying for neurology. Descriptive statistics were used to analyse the factors of influence. Respondents were subsequently categorized into pre-neurology trainees, neurology trainees, child neurologists and adult neurologists, and differences between the groups were analysed using Pearson's chi-square test. One hundred and thirty-three anonymous responses were received. The respondents were neurologists across all levels of training and practice. Across all respondents, the most common factor of high importance was intellectual content of specialty, challenging diagnostic problems, type of patient encountered and interest in helping people. Responses were similar across the groups; however, the earliest trainees cited interest in helping people as most important, while those in neurology training and beyond cite intellectual content of the specialty as most important. As trainees transition from their earliest levels of clinical experience into working as residents and faculty, there is a shift in the cited important factors. Lifestyle and financial factors seem to be the least motivating across all groups. Encouragement from peers, mentors, faculty and practicing physicians is considered high influences in a smaller number of neurologists. This may present an opportunity for practicing neurologists to make connections with medical students early in their education in an effort to encourage and mentor candidates.

  18. Magnetic resonance methods in fetal neurology.

    PubMed

    Mailath-Pokorny, M; Kasprian, G; Mitter, C; Schöpf, V; Nemec, U; Prayer, D

    2012-10-01

    Fetal magnetic resonance imaging (MRI) has become an established clinical adjunct for the in-vivo evaluation of human brain development. Normal fetal brain maturation can be studied with MRI from the 18th week of gestation to term and relies primarily on T2-weighted sequences. Recently diffusion-weighted sequences have gained importance in the structural assessment of the fetal brain. Diffusion-weighted imaging provides quantitative information about water motion and tissue microstructure and has applications for both developmental and destructive brain processes. Advanced magnetic resonance techniques, such as spectroscopy, might be used to demonstrate metabolites that are involved in brain maturation, though their development is still in the early stages. Using fetal MRI in addition to prenatal ultrasound, morphological, metabolic, and functional assessment of the fetus can be achieved. The latter is not only based on observation of fetal movements as an indirect sign of activity of the fetal brain but also on direct visualization of fetal brain activity, adding a new component to fetal neurology. This article provides an overview of the MRI methods used for fetal neurologic evaluation, focusing on normal and abnormal early brain development. Copyright © 2012 Elsevier Ltd. All rights reserved.

  19. The association between the early motor repertoire and language development in term children born after normal pregnancy.

    PubMed

    Salavati, Sahar; Einspieler, Christa; Vagelli, Giulia; Zhang, Dajie; Pansy, Jasmin; Burgerhof, Johannes G M; Marschik, Peter B; Bos, Arend F

    2017-08-01

    The assessment of the early motor repertoire is a widely used method for assessing the infant's neurological status. To determine the association between the early motor repertoire and language development. Prospective cohort study. 22 term children born after normal pregnancy; video recorded for the assessment of the early motor repertoire including their motor optimality score (MOS), according to Prechtl, at 3 and 5months post term. At 4years 7months and 10years 5months, we tested the children's language performance by administering three tests for expressive language and two for receptive language. Smooth and fluent movements at 3months of age was associated with better expressive language outcome at both 4years 7months and 10years 5months (betas 0.363 and 0.628). A higher MOS at 5months was associated with better expressive language at both ages (betas 0.486 and 0.628). The item postural patterns at 5months was the only aspect associated with poorer expressive language outcome (beta -0.677). Predominantly, qualitative aspects of the early motor repertoire at the age of 3 and 5months are associated with language development. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. Neurological Outcomes After Presumed Childhood Encephalitis.

    PubMed

    Rismanchi, Neggy; Gold, Jeffrey J; Sattar, Shifteh; Glaser, Carol; Sheriff, Heather; Proudfoot, James; Mower, Andrew; Nespeca, Mark; Crawford, John R; Wang, Sonya G

    2015-09-01

    To evaluate factors during acute presumed childhood encephalitis that are associated with development of long-term neurological sequelae. A total of 217 patients from Rady Children's Hospital San Diego with suspected encephalitis who met criteria for the California Encephalitis Project were identified. A cohort of 99 patients (40 females, 59 males, age 2 months-17 years) without preexisting neurological conditions, including prior seizures or abnormal brain magnetic resonance imaging scans was studied. Mean duration of follow-up was 29 months. Factors that had a relationship with the development of neurological sequelae (defined as developmental delay, learning difficulties, behavioral problems, or focal neurological findings) after acute encephalitis were identified. Neurological sequelae at follow-up was associated with younger age (6.56 versus 9.22 years) at presentation (P = 0.04) as well as an initial presenting sign of seizure (P = 0.03). Duration of hospital stay (median of 7 versus 15.5 days; P = 0.02) was associated with neurological sequelae. Of the patients with neurological sequelae, a longer hospital stay was associated with patients of an older age (P = 0.04). Abnormalities on neuroimaging (P = 1.00) or spinal fluid analysis (P = 1.00) were not uniquely associated with neurological sequelae. Children who were readmitted after their acute illness (P = 0.04) were more likely to develop neurological sequelae. There was a strong relationship between the patients who later developed epilepsy and those who developed neurological sequelae (P = 0.02). Limited data are available on the long-term neurological outcomes of childhood encephalitis. Almost half of our patients were found to have neurological sequelae at follow-up, indicating the importance of earlier therapies to improve neurological outcome. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. Thermography in Neurologic Practice

    PubMed Central

    Neves, Eduardo Borba; Vilaça-Alves, José; Rosa, Claudio; Reis, Victor Machado

    2015-01-01

    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

  2. [Neurorehabilitation, neurology, rehabilitation medicine].

    PubMed

    Urbán, Edina; Szél, István; Fáy, Veronika; Dénes, Zoltán; Lippai, Zoltán; Fazekas, Gábor

    2013-05-30

    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.

  3. Summary of evidence-based guideline update: evaluation and management of concussion in sports: report of the Guideline Development Subcommittee of the American Academy of Neurology.

    PubMed

    Giza, Christopher C; Kutcher, Jeffrey S; Ashwal, Stephen; Barth, Jeffrey; Getchius, Thomas S D; Gioia, Gerard A; Gronseth, Gary S; Guskiewicz, Kevin; Mandel, Steven; Manley, Geoffrey; McKeag, Douglas B; Thurman, David J; Zafonte, Ross

    2013-06-11

    To update the 1997 American Academy of Neurology (AAN) practice parameter regarding sports concussion, focusing on 4 questions: 1) What factors increase/decrease concussion risk? 2) What diagnostic tools identify those with concussion and those at increased risk for severe/prolonged early impairments, neurologic catastrophe, or chronic neurobehavioral impairment? 3) What clinical factors identify those at increased risk for severe/prolonged early postconcussion impairments, neurologic catastrophe, recurrent concussions, or chronic neurobehavioral impairment? 4) What interventions enhance recovery, reduce recurrent concussion risk, or diminish long-term sequelae? The complete guideline on which this summary is based is available as an online data supplement to this article. We systematically reviewed the literature from 1955 to June 2012 for pertinent evidence. We assessed evidence for quality and synthesized into conclusions using a modified Grading of Recommendations Assessment, Development and Evaluation process. We used a modified Delphi process to develop recommendations. Specific risk factors can increase or decrease concussion risk. Diagnostic tools to help identify individuals with concussion include graded symptom checklists, the Standardized Assessment of Concussion, neuropsychological assessments, and the Balance Error Scoring System. Ongoing clinical symptoms, concussion history, and younger age identify those at risk for postconcussion impairments. Risk factors for recurrent concussion include history of multiple concussions, particularly within 10 days after initial concussion. Risk factors for chronic neurobehavioral impairment include concussion exposure and APOE ε4 genotype. Data are insufficient to show that any intervention enhances recovery or diminishes long-term sequelae postconcussion. Practice recommendations are presented for preparticipation counseling, management of suspected concussion, and management of diagnosed concussion.

  4. PKCλ/ι signaling-a common node for normal cellular development and breast oncogenesis.

    PubMed

    Paul, Arindam; Paul, Soumen

    2015-01-01

    We recently demonstrated that PKCλ/ι signaling is an important contributor to breast cancer development. Strikingly, PKCλ/ι signaling is also important to balance self-renewal versus differentiation in pluripotent stem cells and is essential for embryonic development. This commentary highlights some key functions of PKCλ/ι signaling that are integral to both normal development and cancer progression.

  5. Development of Auditory Evoked Responses in Normally Developing Preschool Children and Children with Autism Spectrum Disorder.

    PubMed

    Stephen, Julia M; Hill, Dina E; Peters, Amanda; Flynn, Lucinda; Zhang, Tongsheng; Okada, Yoshio

    2017-08-04

    The cortical responses to auditory stimuli undergo rapid and dramatic changes during the first 3 years of life in normally developing (ND) children, with decreases in latency and changes in amplitude in the primary peaks. However, most previous studies have focused on children >3 years of age. The analysis of data from the early stages of development is challenging because the temporal pattern of the evoked responses changes with age (e.g., additional peaks emerge with increasing age) and peak latency decreases with age. This study used the topography of the auditory evoked magnetic field (AEF) to identify the auditory components in ND children between 6 and 68 months (n = 48). The latencies of the peaks in the AEF produced by a tone burst (ISI 2 ± 0.2 s) during sleep decreased with age, consistent with previous reports in awake children. The peak latencies of the AEFs in ND children and children with autism spectrum disorder (ASD) were compared. Previous studies indicate that the latencies of the initial components of the auditory evoked potential (AEP) and the AEF are delayed in children with ASD when compared to age-matched ND children >4 years of age. We speculated whether the AEF latencies decrease with age in children diagnosed with ASD as in ND children, but with uniformly longer latencies before the age of about 4 years. Contrary to this hypothesis, the peak latencies did not decrease with age in the ASD group (24-62 months, n = 16) during sleep (unlike in the age-matched controls), although the mean latencies were longer in the ASD group as in previous studies. These results are consistent with previous studies indicating delays in auditory latencies, and they indicate a different maturational pattern in ASD children and ND children. Longitudinal studies are needed to confirm whether the AEF latencies diverge with age, starting at around 3 years, in these 2 groups of children. © 2017 S. Karger AG, Basel.

  6. Narrative skills in 4-year-olds with normal, impaired, and late-developing language.

    PubMed

    Paul, R; Smith, R L

    1993-06-01

    Two groups of children who were slow in expressive language development (SELD) at age 2 and a matched group of toddlers with normal language were re-evaluated at age 4. Assessment included measures of productive syntactic skills in spontaneous speech and narrative abilities in a standard story retelling task. Four-year-olds who continued to perform below the normal range in sentence structure production scored significantly lower than their normally speaking peers on all measures of narrative skill. Children who were slow to begin talking at age 2 but who, by age 4, had moved into the normal range in basic sentence structure production showed no statistically significant differences, in terms of several of the measures of narrative ability, from either normally speaking 4-year-olds or from the group with persistent delay. The implications of these findings for the management of early language delay and its relation to school learning disability are discussed.

  7. Developing Normal Turns-Amplitude Clouds for Upper and Lower Limbs.

    PubMed

    Jabre, Joe F; Nikolayev, Sergey G; Babayev, Michael B; Chindilov, Denis V; Muravyov, Anatoly Y

    2016-10-01

    Turns and amplitude analysis (T&A) is a frequently used method for automatic EMG interference pattern analysis. The T&A normal values have only been developed for a limited number of muscles. Our objective was to obtain normal T&A clouds for upper and lower extremity muscles for which no normal values exist in the literature. The T&A normative data using concentric needle electrodes were obtained from 68 men and 56 women aged 20 to 60 years. Normal upper and lower extremity T&A clouds were obtained and presented in this article. The T&A normal values collected in this study maybe used to detect neurogenic and myopathic abnormalities in men and women at low-to-moderate muscle contractions. The effect of turns-amplitude data obtained at high force level of muscle contraction and its potential to falsely show neurogenic abnormalities are discussed.

  8. Fish oil and mental health: the role of n-3 long-chain polyunsaturated fatty acids in cognitive development and neurological disorders.

    PubMed

    Assisi, Alessandro; Banzi, Rita; Buonocore, Carmela; Capasso, Filippo; Di Muzio, Valeria; Michelacci, Francesca; Renzo, Danila; Tafuri, Giovanni; Trotta, Francesco; Vitocolonna, Maria; Garattini, Silvio

    2006-11-01

    Epidemiological and experimental studies have indicated that consumption of more n-3 long-chain polyunsaturated fatty acids may reduce the risk for a variety of diseases, including cardiovascular, neurological and immunological disorders, diabetes and cancer. This article focuses on the role of marine n-3 long-chain polyunsaturated fatty acids in brain functions, including the development of the central nervous system and neurological disorders. An overview of the major animal studies and clinical trials is provided here, focusing on fatty acid supplementation during pregnancy and infancy, and prevention and management of Alzheimer's disease, schizophrenia, depression and attention deficit hyperactive disorder. Although an optimal balance in n-3/n-6 long-chain polyunsaturated fatty acid ratio is important for proper neurodevelopment and cognitive functions, results from randomized controlled trials are controversial and do not confirm any useful effect of supplementation on development of preterm and term infants. The relationship between fatty acid status and mental disorders is confirmed by reduced levels of n-3 long-chain polyunsaturated fatty acids in erythrocyte membranes of patients with central nervous system disorders. Nevertheless, there are very little data supporting the use of fish oil in those patients. The only way to verify whether n-3 long-chain polyunsaturated fatty acids are a potential therapeutic option in the management and prevention of mental disorders is to conduct a large definitive randomized controlled trials similar to those required for the licensing of any new pharmacological treatment.

  9. Pediatric neurology of the dog and cat.

    PubMed

    Lavely, James A

    2006-05-01

    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.

  10. ECT IN NEUROLOGICAL COUNDITIONS

    PubMed Central

    Girish, K.; Gangadhar, B.N.; Janakiramaiah, N.

    2002-01-01

    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

  11. [Deficiency, disability, neurology and literature].

    PubMed

    Collado-Vázquez, Susana; Cano-de-la-Cuerda, Roberto; Jiménez-Antona, Carmen; Muñoz-Hellín, Elena

    2012-08-01

    Literature has always been attracted to neurological pathologies and the numerous works published on the subject are proof of this. Likewise, a number of physicians have been fiction writers and have drawn on their scientific knowledge to help develop their stories. The study addresses the appearance of neurological pathologies in a sample of literary works and examines the description of the disease, its treatment, the patient's view and the relationship between healthcare professionals and the socio-familial milieu. We review some of the greatest literary works of all times that deal with neurological pathologies, such as Don Quixote, Julius Caesar, David Copperfield, The Idiot or Miau, and many of them are seen to offer a very faithful portrayal of the disease. Similarly, we have also reviewed works that provide a personal account of life with neurological diseases and the ensuing disability written either by the patients themselves or by their relatives, examples being The Diving Bell and the Butterfly, My Left Foot or One Chance in a Thousand. Literature has helped to offer a realistic vision of neurologically-based pathologies and the healthcare professionals who work with them; there are many examples that portray the experiences of the patients themselves and the importance of support from the family is a feature that is constantly underlined.

  12. Case studies of pronoun development in two hearing-impaired children: normal, delayed or deviant?

    PubMed

    Cole, E B; Oshima-Takane, Y; Yaremko, R L

    1994-01-01

    This paper is a study of first and second person pronoun development in the spoken language of two young hearing-impaired children. Pronoun development was examined over a period of 11 months, starting at the age of 29 and 28 months, to determine whether the children's acquisition of these pronouns would reflect normal, delayed or deviant patterns of development. Comparison of data from these children with data regarding normally developing children shows the hearing-impaired children's acquisition to be within normal expectations for hearing age and overall linguistic level, and only slightly delayed in terms of chronological age. These results lend support to the view that differences in the hearing-impaired child's language ability are probably the result of a relative lack of auditory and linguistic experience, rather than reorganisation of the hearing-impaired child's psychological and cognitive processing abilities.

  13. Fertilization and normal development in Ascidiella aspersa (Tunicata) studied with Nomarski-optics

    NASA Astrophysics Data System (ADS)

    Niermann-Kerkenberg, Eva; Hofmann, Dietrich Kurt

    1989-06-01

    Normal development of Ascidiella aspersa was studied over a period of approx. 24 h at 20°C from egg insemination through metamorphosis of the tadpole larva using Nomarski-optics. Records were made of spermatozoa attaching to and passing through the cellular envelopes and the chorion of the egg. Egg shape alterations upon entry of the fertilizing sperm, which reflect the early phase of ooplasmic segregation, were monitored in intact and dechorionated eggs. The time course of normal development was recorded, and prominent stages were photographed within or deprived of the egg envelopes. The present observations are compared with recent accounts on early development in other solitary ascidian species.

  14. Update on Paraneoplastic Neurologic Disorders

    PubMed Central

    Rosenfeld, Myrna R.

    2010-01-01

    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

  15. Exceptional Infant. Volume 1: The Normal Infant.

    ERIC Educational Resources Information Center

    Hellmuth, Jerome, Ed.

    This book contains a collection of papers that focus on normal infant development, particularly from the standpoint of learning. Written by leading experts from a member of disciplines, these papers deal with topics such as: the examination and observation of infants, including neurological, neuropsychological, and neurobehavioral aspects;…

  16. Exceptional Infant. Volume 1: The Normal Infant.

    ERIC Educational Resources Information Center

    Hellmuth, Jerome, Ed.

    This book contains a collection of papers that focus on normal infant development, particularly from the standpoint of learning. Written by leading experts from a member of disciplines, these papers deal with topics such as: the examination and observation of infants, including neurological, neuropsychological, and neurobehavioral aspects;…

  17. [Neurologic manifestations in a child of a mother with gestational herpes].

    PubMed

    Berthier, M; Nasimi, A; Boussemart, T; Cardona, J; Oriot, D

    1996-05-01

    Herpes gestationis in the neonate is usually associated with an increased risk of premature birth and/or low birth weight for gestational age (GA) and sometimes skin lesions. Neurologic manifestations are nos described in these babies. A boy was born at 35 weeks of GA from a mother who developed skin eruption typical of herpes gestationis. His weight was 2320 g and his height was 46 cm. He had transient respiratory distress syndrome and was given antibiotics due to suspected group B streptococcus infection. He developed on day 3 skin vesiculous eruption which disappeared within 3 days and neurologic manifestations: hypertonia and hyperkinesis, abnormal EEG. The CSF was normal. The manifestations spontaneously disappeared within 5 days. The herpes gestationis factor was present in both mother and infant. A relationship between the maternal herpes gestationis and neonatal neurologic manifestations is possible; there was no other known causes for the transient neurological disease.

  18. Happiness and neurological diseases.

    PubMed

    Barak, Yoram; Achiron, Anat

    2009-04-01

    addition, specific interventions to increase happiness developed by PoP clinicians have demonstrated efficacy and validity. Several measurement scales now exist that reliably measure happiness as a long-term state, rather than as a fluctuating condition resulting from prevailing mood. These enable the use of happiness as an end point in clinical trials. As happiness becomes increasingly accepted as an important consideration in neurological disease, it is likely to be monitored more extensively, with measures to raise happiness levels being taken as an effective means of improving patient outcomes.

  19. High frequency ultrasound imaging of the growth and development of the normal chick embryo.

    PubMed

    Schellpfeffer, Michael A; Bolender, David L; Kolesari, Gary L

    2007-05-01

    The purpose of this study is to delineate with high frequency ultrasound imaging the normal growth and development of the chick embryo throughout its incubation period. White Leghorn chick embryos were imaged through an opening in the egg air cell from incubation day 0-19 (Hamburger & Hamilton stage 1-45) using a 13 MHz clinical high frequency linear small parts transducer. Multiple anatomic growth parameters were measured. Normal growth was confirmed with Hamburger and Hamilton staging. A timeline was constructed showing when each anatomic growth parameter could be visualized. Means and standard deviations of each parameter were plotted against incubation days studied to create nomograms and numerical tables of normal growth and development of the chick embryo. With this set of data, abnormal growth and development of the chick embryo can now be assessed.

  20. Functional neurological disorders: imaging.

    PubMed

    Voon, V

    2014-10-01

    Functional neurological disorders, also known as conversion disorder, are unexplained neurological symptoms. These symptoms are common and can be associated with significant consequences. This review covers the neuroimaging literature focusing on functional motor symptoms including motor functioning and upstream influences including self-monitoring and internal representations, voluntariness and arousal and trauma. Copyright © 2014. Published by Elsevier SAS.

  1. The neurology in Shakespeare.

    PubMed

    Fogan, L

    1989-08-01

    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.

  2. Fertilization of sea urchin eggs in space and subsequent development under normal conditions.

    PubMed

    Marthy, H J; Schatt, P; Santella, L

    1994-01-01

    Sea urchin eggs are generally considered as most suitable animal models for studying fertilization processes and embryonic development. In the present study, they are used for determining a possible role of gravity in fertilization and the establishment of egg polarity and the embryonic axis. For this purpose, eggs of the particularly well known and suitable species Paracentrotus lividus have been automatically fertilized under microgravity conditions during the Swedish sounding rocket flights MASER IV and MASER V. It turns out, that fertilization "in Space" occurs normally and that subsequent embryonic and larval development of such eggs, continued on the ground, is normal, leading to advanced pluteus stages.

  3. Behaviors and attitudes of normally developing children toward their intellectually disabled siblings.

    PubMed

    Unal, Nazan; Baran, Gülen

    2011-04-01

    This study investigated behaviors of children who have normal development toward their siblings with intellectual disabilities. 9- to 17-year-old normally developing siblings (55 girls, 39 boys) of 94, 5- to 15-year-old mentally disabled children (51 girls, 43 boys) who were attending a special education and rehabilitation center were enrolled in the study. Data were gathered by using a general information form and the Schaeffer Sibling Behavior Rating Scale. Age of the disabled child did not have a significant effect on siblings' behaviors, while knowledge of family about the diagnosis and educational status of their child with intellectual disabilities affected sibling behaviors.

  4. Neurology and orthopaedics

    PubMed Central

    Houlden, Henry; Charlton, Paul; Singh, Dishan

    2007-01-01

    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

  5. Global and local development of gray and white matter volume in normal children and adolescents.

    PubMed

    Wilke, Marko; Krägeloh-Mann, Ingeborg; Holland, Scott K

    2007-04-01

    Over the last decade, non-invasive, high-resolution magnetic resonance imaging has allowed investigating normal brain development. However, much is still not known in this context, especially with regard to regional differences in brain morphology between genders. We conducted a large-scale study utilizing fully automated analysis-approaches, using high-resolution MR-imaging data from 200 normal children and aimed at providing reference data for future neuroimaging studies. Global and local aspects of normal development of gray and white matter volume were investigated as a function of age and gender while covarying for known nuisance variables. Global developmental patterns were apparent in both gray and white matter, with gray matter decreasing and white matter increasing significantly with age. Gray matter loss was most pronounced in the parietal lobes and least in the cingulate and in posterior temporal regions. White matter volume gains with age were almost uniform, with an accentuation of the pyramidal tract. Gender influences were detectable for both gray and white matter. Voxel-based analyses confirmed significant differences in brain morphology between genders, like a larger amygdala in boys or a larger caudate in girls. We could demonstrate profound influences of both age and gender on normal brain morphology, confirming and extending earlier studies. The knowledge of such influence allows for the consideration of age- and gender-effects in future pediatric neuroimaging studies and advances our understanding of normal and abnormal brain development.

  6. Development and application of methods for regional scaling and normalization in life-cycle impact assessment

    SciTech Connect

    Tolle, D.A.

    1995-12-31

    Life-cycle impact assessment (LCIA) is a technical, quantitative and/or qualitative method to classify, characterize, and valuate potential impacts on human health, ecosystems, and natural resources, based on the environmental burdens identified in a life-cycle inventory. Research described here for two LCIAs included development and application of regional scaling methods for the following 5 of 14 relevant impact categories: Suspended (PM{sub 10}) particulate effects, water use, acid deposition, smog creation, and eutrophication. Normalization is recommended after characterization, because aggregated sums per impact category need to be expressed in equivalent terms before assigning valuation weight factors. The normalization approach described here involves determination of factors that represent the total, geographically-relevant impact for a given impact category. The goal for the 14 normalization factors developed and applied to two LCIAS, was to make them scientifically defensible, while utilizing existing data on emission or resource extraction quantities for three spatial perspectives. Data on the total environmental burden for each inventory item under a given impact category were obtained for normalization factors. Since the boundaries of the two LCIAs were primarily in the US, the data for the regional or local impact category perspectives were restricted to appropriate areas in the US. Normalization factors were developed and applied in the two LCIAs for 11 impact categories involving chemical emissions, water use, solid waste volume, and resource extraction/production land use.

  7. Normal table of embryonic development in the four-toed salamander, Hemidactylium scutatum.

    PubMed

    Hurney, C A; Babcock, S K; Shook, D R; Pelletier, T M; Turner, S D; Maturo, J; Cogbill, S; Snow, M C; Kinch, K

    2015-05-01

    We present a complete staging table of normal development for the lungless salamander, Hemidactylium scutatum (Caudata: Plethodontidae). Terrestrial egg clutches from naturally ovipositing females were collected and maintained at 15 °C in the laboratory. Observations, photographs, and time-lapse movies of embryos were taken throughout the 45-day embryonic period. The complete normal table of development for H. scutatum is divided into 28 stages and extends previous analyses of H. scutatum embryonic development (Bishop, 1920; Humphrey, 1928). Early embryonic stage classifications through neurulation reflect criteria described for Xenopus laevis, Ambystoma maculatum and other salamanders. Later embryonic stage assignments are based on unique features of H. scutatum embryos. Additionally, we provide morphological analysis of gastrulation and neurulation, as well as details on external aspects of eye, gill, limb, pigmentation, and tail development to support future research related to phylogeny, comparative embryology, and molecular mechanisms of development.

  8. Profile of neurological disorders in an adult neurology clinic in Kumasi, Ghana

    PubMed Central

    Sarfo, Fred Stephen; Akassi, John; Badu, Elizabeth; Okorozo, Aham; Ovbiagele, Bruce; Akpalu, Albert

    2016-01-01

    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

  9. Analysis of the Sonic Hedgehog signaling pathway in normal and abnormal bladder development.

    PubMed

    DeSouza, Kristin R; Saha, Monalee; Carpenter, Ashley R; Scott, Melissa; McHugh, Kirk M

    2013-01-01

    In this study, we examined the expression of Sonic Hedgehog, Patched, Gli1, Gli2, Gli3 and Myocardin in the developing bladders of male and female normal and megabladder (mgb-/-) mutant mice at embryonic days 12 through 16 by in situ hybridization. This analysis indicated that each member of the Sonic Hedgehog signaling pathway as well as Myocardin displayed distinct temporal and spatial patterns of expression during normal bladder development. In contrast, mgb-/- bladders showed both temporal and spatial changes in the expression of Patched, Gli1 and Gli3 as well as a complete lack of Myocardin expression. These changes occurred primarily in the outer mesenchyme of developing mgb-/- bladders consistent with the development of an amuscular bladder phenotype in these animals. These results provide the first comprehensive analysis of the Sonic Hedgehog signaling pathway during normal bladder development and provide strong evidence that this key signaling cascade is critical in establishing radial patterning in the developing bladder. In addition, the lack of detrusor smooth muscle development observed in mgb-/- mice is associated with bladder-specific temporospatial changes in Sonic Hedgehog signaling coupled with a lack of Myocardin expression that appears to result in altered patterning of the outer mesenchyme and poor initiation and differentiation of smooth muscle cells within this region of the developing bladder.

  10. Child neurology: Past, present, and future: part 1: history.

    PubMed

    Millichap, John J; Millichap, J Gordon

    2009-08-18

    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.

  11. Neurological intensive care.

    PubMed

    Ropper, A H

    1992-10-01

    Neurological intensive care has evolved from the principles of respiratory care established during the poliomyelitis epidemics into a broad field encompassing all of the acute and serious aspects of neurological disease. The economic and political complexities of modern intensive care play a major role in organizing a unit and building a program. Central themes of practice in modern neurological intensive care units include the clinical physiology of intracranial pressure, cerebral blood flow, and brain electrical activity; the systemic abnormalities and medical complications of nervous system diseases; postoperative care; and management of neuromuscular respiratory failure. Treatment of severe stroke and cerebral hemorrhage, brain death, ethical dilemmas of severe neurological illnesses, and the neurological features of critically ill medical patients are also becoming neurological intensive care pursuits. The "neuro-intensivist" is trained to defragment medical care by combining knowledge of neurological diseases with the techniques of intensive care. Future directions include the clinical implementation of brain resuscitation and brain-sparing therapies, sophisticated monitoring of electrophysiological and intracranial physiological indices, and further understanding of the dysfunction of other organs that follows brain and nerve failure.

  12. Cardiomyopathy in neurological disorders.

    PubMed

    Finsterer, Josef; Stöllberger, Claudia; Wahbi, Karim

    2013-01-01

    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. Copyright © 2013 Elsevier Inc. All rights reserved.

  13. Neurologic complications of vaccinations.

    PubMed

    Miravalle, Augusto A; Schreiner, Teri

    2014-01-01

    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.

  14. Development of the water window imaging X-ray microscope utilizing normal-incidence multilayer optics

    NASA Technical Reports Server (NTRS)

    Hoover, Richard B.; Shealy, David L.; Brinkley, B. R.; Baker, Phillip C.; Barbee, Troy W., Jr.; Walker, Arthur B. C., Jr.

    1991-01-01

    A water-window imaging X-ray telescope configured with normal-incidence multilayer X-ray mirrors has been developed to obtain images with unprecedented spatial resolution and contrast of carbon-based microstructures within living cells. The narrow bandpass response inherent in multilayer X-ray optics is accurately tuned to wavelengths within the water window.

  15. On the Influence of Poverty Relief and Educational Aid on Normal University Students' Specialty Development

    ERIC Educational Resources Information Center

    Yun, Pei

    2008-01-01

    This paper explores the influence of poverty relief and educational aid on the development of normal university students in their specialty; in particular, it focuses on its influence on their teaching internship, their study of professional courses, and the formation of professional ethics. The implementation of poverty relief and educational…

  16. Development of Spatial Release from Masking in Mandarin-Speaking Children with Normal Hearing

    ERIC Educational Resources Information Center

    Yuen, Kevin C. P.; Yuan, Meng

    2014-01-01

    Purpose: This study investigated the development of spatial release from masking in children using closed-set Mandarin disyllabic words and monosyllabic words carrying lexical tones as test stimuli and speech spectrum-weighted noise as a masker. Method: Twenty-six children ages 4-9 years and 12 adults, all with normal hearing, participated in…

  17. Polyphenol oxidase affects normal nodule development in red clover (Trifolium pratense L.)

    USDA-ARS?s Scientific Manuscript database

    Polyphenol oxidase (PPO) may have multiple functions in tissues, depending on its cellular or tissue localization. We used PPO RNAi transformants of red clover (Trifolium pratense) to determine the role PPO plays in normal development of plants, and especially in nitrogen-fixing nodules. In red clov...

  18. Communicative Interactions of Mildly Delayed and Normally Developing Preschool Children: Effects of Listener's Developmental Level.

    ERIC Educational Resources Information Center

    Guralnick, Michael J.; Paul-Brown, Diane

    1986-01-01

    The communicative interactions of 32 mildly delayed and normally developing preschoolers were recorded during free play in a mainstreamed program. Analyses of syntactic complexity, semantic diversity, functional aspects of speech, and the use of selected discourse devices indicated that mildly delayed children adjusted important characteristics of…

  19. On the Influence of Poverty Relief and Educational Aid on Normal University Students' Specialty Development

    ERIC Educational Resources Information Center

    Yun, Pei

    2008-01-01

    This paper explores the influence of poverty relief and educational aid on the development of normal university students in their specialty; in particular, it focuses on its influence on their teaching internship, their study of professional courses, and the formation of professional ethics. The implementation of poverty relief and educational…

  20. Development of the water window imaging X-ray microscope utilizing normal-incidence multilayer optics

    NASA Technical Reports Server (NTRS)

    Hoover, Richard B.; Shealy, David L.; Brinkley, B. R.; Baker, Phillip C.; Barbee, Troy W., Jr.; Walker, Arthur B. C., Jr.

    1991-01-01

    A water-window imaging X-ray telescope configured with normal-incidence multilayer X-ray mirrors has been developed to obtain images with unprecedented spatial resolution and contrast of carbon-based microstructures within living cells. The narrow bandpass response inherent in multilayer X-ray optics is accurately tuned to wavelengths within the water window.

  1. Communicative Interactions of Mildly Delayed and Normally Developing Preschool Children: Effects of Listener's Developmental Level.

    ERIC Educational Resources Information Center

    Guralnick, Michael J.; Paul-Brown, Diane

    1986-01-01

    The communicative interactions of 32 mildly delayed and normally developing preschoolers were recorded during free play in a mainstreamed program. Analyses of syntactic complexity, semantic diversity, functional aspects of speech, and the use of selected discourse devices indicated that mildly delayed children adjusted important characteristics of…

  2. Development of Spatial Release from Masking in Mandarin-Speaking Children with Normal Hearing

    ERIC Educational Resources Information Center

    Yuen, Kevin C. P.; Yuan, Meng

    2014-01-01

    Purpose: This study investigated the development of spatial release from masking in children using closed-set Mandarin disyllabic words and monosyllabic words carrying lexical tones as test stimuli and speech spectrum-weighted noise as a masker. Method: Twenty-six children ages 4-9 years and 12 adults, all with normal hearing, participated in…

  3. The problem of not developing normally and pediatric neuropsychological rehabilitation: theMitchell Rosenthal Lecture.

    PubMed

    Prigatano, George P

    2008-01-01

    Children who suffer moderately severe-to-severe traumatic brain injury often fail to develop normal cognitive and affective functioning necessary for independent adult living. The cognitive and psychiatric consequences of pediatric traumatic brain injury are outlined and 6 barriers to providing neuropsychological rehabilitation for these children are identified. Suggestions are made to help reduce the impact of those barriers.

  4. Dependence of normal development of skeletal muscle in neonatal rats on load bearing

    NASA Technical Reports Server (NTRS)

    Ohira, Y.; Tanaka, T.; Yoshinaga, T.; Kawano, F.; Nomura, T.; Nonaka, I.; Allen, D. L.; Roy, R. R.; Edgerton, V. R.

    2000-01-01

    Antigravity function plays an important role in determining the morphological and physiological properties of the neuromuscular system. Inhibition of the normal development of the neuromuscular system is induced by hindlimb unloading during the neonatal period in rats. However, the role of gravitational loading on the development of skeletal muscle in rats is not well understood. It could be hypothesized that during the early postnatal period, i.e. when minimal weight-supporting activity occurs, the activity imposed by gravity would be of little consequence in directing the normal development of the skeletal musculature. We have addressed this issue by limiting the amount of postnatal weight-support activity of the hindlimbs of rats during the lactation period. We have focused on the development of three characteristics of the muscle fibers, i.e. size, myonuclear number and myosin heavy chain expression.

  5. Dependence of normal development of skeletal muscle in neonatal rats on load bearing

    NASA Technical Reports Server (NTRS)

    Ohira, Y.; Tanaka, T.; Yoshinaga, T.; Kawano, F.; Nomura, T.; Nonaka, I.; Allen, D. L.; Roy, R. R.; Edgerton, V. R.

    2000-01-01

    Antigravity function plays an important role in determining the morphological and physiological properties of the neuromuscular system. Inhibition of the normal development of the neuromuscular system is induced by hindlimb unloading during the neonatal period in rats. However, the role of gravitational loading on the development of skeletal muscle in rats is not well understood. It could be hypothesized that during the early postnatal period, i.e. when minimal weight-supporting activity occurs, the activity imposed by gravity would be of little consequence in directing the normal development of the skeletal musculature. We have addressed this issue by limiting the amount of postnatal weight-support activity of the hindlimbs of rats during the lactation period. We have focused on the development of three characteristics of the muscle fibers, i.e. size, myonuclear number and myosin heavy chain expression.

  6. Neurology and international organizations.

    PubMed

    Mateen, Farrah J

    2013-07-23

    A growing number of international stakeholders are engaged with neurologic diseases. This article provides a brief overview of important international stakeholders in the practice of neurology, including global disease-specific programs, United Nations agencies, governmental agencies with international influence, nongovernmental organizations, international professional organizations, large private donors, private-public partnerships, commercial interests, armed forces, and universities and colleges. The continued engagement of neurologists is essential for the growing number of international organizations that can and should incorporate neurologic disease into their global agendas.

  7. William Shakespeare's neurology.

    PubMed

    Paciaroni, Maurizio; Bogousslavsky, Julien

    2013-01-01

    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.

  8. Leech segmental repeats develop normally in the absence of signals from either anterior or posterior segments

    NASA Technical Reports Server (NTRS)

    Seaver, E. C.; Shankland, M.

    2000-01-01

    We have investigated whether the development of segmental repeats is autonomous in the embryo of the leech Helobdella robusta. The segmental tissues of the germinal band arise from progeny of five stem cells called teloblasts. Asymmetric divisions of the teloblasts form chains of segment founder cells (called primary blast cells) that divide in a stereotypical manner to produce differentiated descendants. Using two distinct techniques, we have looked for potential interactions between neighboring blast cell clones along the anterior-posterior axis. In one technique, we prevented the birth of primary blast cells by injection of DNase I into the teloblast, thereby depriving the last blast cell produced before the ablation of its normal posterior neighbors. We also ablated single blast cells with a laser microbeam, which allowed us to assess potential signals acting on either more anterior or more posterior primary blast cell clones. Our results suggest that interactions along the anterior-posterior axis between neighboring primary blast cell clones are not required for development of normal segmental organization within the blast cell clone. We also examined the possibility that blast cells receive redundant signals from both anterior and posterior neighboring clones and that either is sufficient for normal development. Using double blast cell laser ablations to isolate a primary blast cell clone by removal of both its anterior and its posterior neighbor, we found that the isolated clone still develops normally. These results reveal that the fundamental segmental repeat in the leech embryo, the primary blast cell clone, can develop normally in the apparent absence of signals from adjacent repeats along the anterior-posterior axis.

  9. Leech segmental repeats develop normally in the absence of signals from either anterior or posterior segments

    NASA Technical Reports Server (NTRS)

    Seaver, E. C.; Shankland, M.

    2000-01-01

    We have investigated whether the development of segmental repeats is autonomous in the embryo of the leech Helobdella robusta. The segmental tissues of the germinal band arise from progeny of five stem cells called teloblasts. Asymmetric divisions of the teloblasts form chains of segment founder cells (called primary blast cells) that divide in a stereotypical manner to produce differentiated descendants. Using two distinct techniques, we have looked for potential interactions between neighboring blast cell clones along the anterior-posterior axis. In one technique, we prevented the birth of primary blast cells by injection of DNase I into the teloblast, thereby depriving the last blast cell produced before the ablation of its normal posterior neighbors. We also ablated single blast cells with a laser microbeam, which allowed us to assess potential signals acting on either more anterior or more posterior primary blast cell clones. Our results suggest that interactions along the anterior-posterior axis between neighboring primary blast cell clones are not required for development of normal segmental organization within the blast cell clone. We also examined the possibility that blast cells receive redundant signals from both anterior and posterior neighboring clones and that either is sufficient for normal development. Using double blast cell laser ablations to isolate a primary blast cell clone by removal of both its anterior and its posterior neighbor, we found that the isolated clone still develops normally. These results reveal that the fundamental segmental repeat in the leech embryo, the primary blast cell clone, can develop normally in the apparent absence of signals from adjacent repeats along the anterior-posterior axis.

  10. Elevated temperature enhances normal early embryonic development in the coral Platygyra acuta under low salinity conditions

    NASA Astrophysics Data System (ADS)

    Chui, Apple Pui Yi; Ang, Put

    2015-06-01

    To better understand the possible consequences of climate change on reef building scleractinian corals in a marginal environment, laboratory experiments were conducted to examine the interactive effects of changes in salinity and temperature on percent fertilization success and early embryonic development of the coral Platygyra acuta. In the present study, a salinity of 24 psu (ambient 32 psu) reduced fertilization success by 60 %. Normal embryonic development was reduced by >80 % at 26 psu (ambient 33 psu) with 100 % abnormal development at 22 psu under ambient temperature. Elevated temperature (+3 °C) above the ambient spawning temperature did not show any negative effects on fertilization success. However, there was a trend for more abnormal embryos to develop at elevated temperature in the 2 d of the spawning event. The interactive effects between salinity and temperature are statistically significant only on normal embryonic development of P. acuta, but not on its fertilization success. Salinity was revealed to be the main factor affecting both fertilization success and normal embryonic development. Interestingly, the much lower fertilization success (76 %) observed in the second day of spawning (Trial 2) under ambient temperature recovered to 99 % success under elevated (+3 °C) temperature conditions. Moreover, elevated temperature enhanced normal early embryonic development under lowered salinity (26 psu). This antagonistic interactive effect was consistently observed in two successive nights of spawning. Overall, our results indicate that, in terms of its fertilization success and embryonic development, P. acuta is the most tolerant coral species to reduced salinity thus far reported in the literature. Elevated temperature, at least that within the tolerable range of the corals, could apparently alleviate the potential negative effects from salinity stresses. This mitigating role of elevated temperature appears not to have been reported on corals before.

  11. Paraneoplastic Neurological Disorder in Nasopharyngeal Carcinoma.

    PubMed

    Ng, Sze Yin; Kongg, Min Han; Yunus, Mohd Razif Mohamad

    2017-03-01

    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.

  12. Paraneoplastic Neurological Disorder in Nasopharyngeal Carcinoma

    PubMed Central

    Ng, Sze Yin; Kongg, Min Han; Yunus, Mohd Razif Mohamad

    2017-01-01

    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

  13. The impact of continuous and ongoing professional development on the nursing process of taking care of neurological patients.

    PubMed

    Kopacević, Lenka; Mihelcić, Vesna Bozan; Antić, Sonja; Demarin, Vida

    2013-03-01

    Nurses distinguish continuous professional development intended for career improvement and personal development from continuous professional development intended for improvement of skills and knowledge. Too many requests are put in front of an individual unacceptably stretching it onto the life outside work. Students have various expectations from their education. Factors that motivate nurses to study are to improve knowledge, patient care and professional relations. Factors connected to personal development include boost of confidence and embracing of other values. Motivation for additional education is also connected to the change of work, practice improvement, self-confidence improvement, nursing career plans, and necessary intellectual stimulation. The reasons for which nurses decide to undertake further education are also desire for maintenance of clinical competence, but also enjoyment in studying itself. An employer who expects from nurses to opt for such a type of education or stimulate it is another common reason.

  14. Neurological disorders in Gulf War veterans

    PubMed Central

    Rose, Michael R; Brix, Kelley Ann

    2006-01-01

    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

  15. Normal and abnormal development of pulmonary veins: state of the art and correlation with clinical entities.

    PubMed

    Douglas, Yvonne L; Jongbloed, Monique R M; Deruiter, Marco C; Gittenberger-de Groot, Adriana C

    2011-02-17

    Interest for the pulmonary veins has increased in the past decade after the potential arrhythmogenicity of the myocardial sleeve surrounding these structures has been recognized. Furthermore, there are several clinical entities, such as anomalous connection pattern and pulmonary vein stenosis, that are related to abnormal pulmonary vein development. In this review, we will describe current literature and aim to elucidate and reorganize current opinions on normal and abnormal pulmonary vein development in relation to clinical (management of) diseases. Several unresolved questions will be addressed, as well as current conceptual controversies. First, a general overview of development of structures at the venous pole of the heart, including normal development of the pulmonary vein from a primitive Anlage, will be provided. Recent insights indicate an important contributory role of the mesoderm behind the heart, the so-called second heart field, to this area. Subsequently, the formation of a myocardial and smooth muscle vascular wall of the pulmonary veins and the left atrium is described, as well as current insights in the mechanisms involved in the differentiation of these different cell types in this area. Next, developmental concepts of normal pulmonary venous drainage patterns are reviewed, and an overview is provided of clinical entities related to abnormal development at several anatomical levels. Lastly, attention is paid to arrhythmogenesis in relation to pulmonary vein development, as well the consequences for clinical management.

  16. Neurological manifestation of methyl bromide intoxication.

    PubMed

    Suwanlaong, Kanokrat; Phanthumchinda, Kammant

    2008-03-01

    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.

  17. High normal urine albumin-to-creatinine ratio predicts development of hypertension in Korean men.

    PubMed

    Park, Sung Keun; Moon, Soo Young; Oh, Chang-Mo; Ryoo, Jae-Hong; Park, Min Suk

    2014-01-01

    Microalbuminuria is known as a risk factor for hypertension. Recently it was suggested that urine albumin-to-creatinine ratio (UACR), even within the normal range, can be associated with hypertension, but the temporal relationship between normal range UACR and hypertension was not confirmed. Therefore the aim of this study was to verify an association between normal range UACR and the development of hypertension in Korean men. This prospective cohort study was performed on 1,284 initially non-hypertensive Korean men. The total follow-up period was 4,109.5 person-years and the mean follow-up period was 3.2±1.51 years. Cox proportional hazards model was used to estimate the hazard ratios (HR) for the risk of hypertension development. After adjusting for multiple covariates, the HR (95% confidence interval [CI]) for incident hypertension, comparing the second to the fourth quartiles of UACR level to the first quartile, were 1.35 (95% CI: 0.93-1.97), 1.55 (95% CI: 1.07-2.25) and 1.89 (95% CI: 1.31-2.71), respectively (P for trend=0.001). High UACR within the normal range was significantly associated with hypertension development. Furthermore, this association remained significant after adjusting for multiple baseline covariates. 

  18. Mice lacking histone deacetylase 6 have hyperacetylated tubulin but are viable and develop normally.

    PubMed

    Zhang, Yu; Kwon, Sohee; Yamaguchi, Teppei; Cubizolles, Fabien; Rousseaux, Sophie; Kneissel, Michaela; Cao, Chun; Li, Na; Cheng, Hwei-Ling; Chua, Katrin; Lombard, David; Mizeracki, Adam; Matthias, Gabriele; Alt, Frederick W; Khochbin, Saadi; Matthias, Patrick

    2008-03-01

    Posttranslational modifications play important roles in regulating protein structure and function. Histone deacetylase 6 (HDAC6) is a mostly cytoplasmic class II HDAC, which has a unique structure with two catalytic domains and a domain binding ubiquitin with high affinity. This enzyme was recently identified as a multisubstrate protein deacetylase that can act on acetylated histone tails, alpha-tubulin and Hsp90. To investigate the in vivo functions of HDAC6 and the relevance of tubulin acetylation/deacetylation, we targeted the HDAC6 gene by homologous recombination in embryonic stem cells and generated knockout mice. HDAC6-deficient mice are viable and fertile and show hyperacetylated tubulin in most tissues. The highest level of expression of HDAC6 is seen in the testis, yet development and function of this organ are normal in the absence of HDAC6. Likewise, lymphoid development is normal, but the immune response is moderately affected. Furthermore, the lack of HDAC6 results in a small increase in cancellous bone mineral density, indicating that this deacetylase plays a minor role in bone biology. HDAC6-deficient mouse embryonic fibroblasts show apparently normal microtubule organization and stability and also show increased Hsp90 acetylation correlating with impaired Hsp90 function. Collectively, these data demonstrate that mice survive well without HDAC6 and that tubulin hyperacetylation is not detrimental to normal mammalian development.

  19. [Neurology of hysteria (conversion disorder)].

    PubMed

    Sonoo, Masahiro

    2014-07-01

    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.

  20. [Neurology in medieval regimina sanitatis].

    PubMed

    de Frutos González, V; Guerrero Peral, A L

    2011-09-01

    In medical medieval literature some works about dietetics stand out. Dietetics, as a separate branch of medicine, includes not only food or drinks, but other environmental factors influencing on health. They are known as regimina sanitatis or salutis, and specially developed in the Christian west. They generally consisted of a balance between the Galenic "six non-natural things"; factors regulating health and its protection: environment, exercise, food, sleep, bowel movements and emotions. After reviewing the sources and defining the different stages of this genre, we have considered three of the most out-standing medieval regimina, the anonymous Regimen sanitatis salernitanum, Arnaldo de Vilanova's Regimen sanitatis ad regem aragonum and Bernardo de Gordon's Tractatus of conservatione vite humane. In them we review references to neurological disease. Though not independently considered, there is a significant presence of neurological diseases in the regimina. Dietetics measures are proposed to preserve memory, nerves, or hearing, as well as for the treatment of migraine, epilepsy, stroke or dizziness. Regimina are quiet representative among medical medieval literature, and they show medieval physicians vision of neurological diseases. Dietetics was considered useful to preserve health, and therapeutics was based on natural remedies. 2010 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  1. [Comparison of functional activity performance in normally developing children and children with cerebral palsy].

    PubMed

    Mancini, Marisa C; Fiúza, Patrícia M; Rebelo, Jerusa M; Magalhães, Lívia C; Coelho, Zélia A C; Paixao, Maria Lúcia; Gontijo, Ana Paula B; Fonseca, Sérgio T

    2002-06-01

    To compare the pattern of self-care performance in normal children and children with cerebral palsy (CP). 142 normal children and 33 children with CP were evaluated by 22 items from the self-care scale of the PEDI functional test. Rasch methodology transformed scores into interval measures of difficulty from 0 to 100 (logit). Spearman rank correlation coefficient compared the order of logits in the two groups. Eleven items showed significant differences in the logit values received. Out of these, 7 items showed relative difficulty values greater in the group of children with CP and 4 items showed relative difficulty values greater among normal children. A significant correlation was observed in the order of the 22 items displayed in the two interval scales. The results suggest that the development of self-care functional activities may be influenced by the presence of CP. These results may support assessment and intervention strategies for children with neuromotor disorders.

  2. Neurologic Diseases in Horses.

    PubMed

    Rech, Raquel; Barros, Claudio

    2015-08-01

    This article focuses on the gross examination of the brain and spinal cord and outlines the main lesions and neuroanatomic location related to neurologic diseases in horses. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. [Child neurology and rehabilitation].

    PubMed

    Kumagai, K

    2000-05-01

    The history of child neurology and the changing pattern of research methods in this field are reviewed with special reference to holoprosencephaly and recent technical advances in sleep research. This is followed by a discussion on the relationship between child neurology and rehabilitation. The majority of child neurologic disorders are developmental disabilities, but acquired child neurological diseases also show chronic progressive course in many cases. Therefore, child neurologist should understand the basis of rehabilitation approach and appreciate the three classes of disabilities; subsequently, a plan needs to be incorporating medical treatment and a program of rehabilitation for the disabled children. It is important that the role of the various rehabilitation specialists (rehabilitation doctor, physiotherapist, occupational therapist, and others) are understood in relation to the work of pediatric neurologist. Finally, a brief discussion is presented on the rehabilitation approach of patients with hypoxic encephalopathy and the information of welfare equipment.

  4. American Academy of Neurology

    MedlinePlus

    ... profile. View Profile AAN Gifts $50K for Members' Hurricane Relief, Will You Join Us? Neurology practices affected by the recent US hurricanes are encouraged to contact the AAN for assistance. ...

  5. Relationships between protein and mineral during enamel development in normal and genetically altered mice

    PubMed Central

    Smith, Charles E.; Hu, Yuanyuan; Richardson, Amelia S.; Bartlett, John D.; Hu, Jan C-C.; Simmer, James P.

    2012-01-01

    The purpose of this study was to quantify and compare the amounts of volatiles (mostly protein) and mineral present in developing incisor enamel in normal mice and in those genetically engineered for absence of intact enamelin, ameloblastin, matrix metalloproteinase 20 (MMP20) or kallikrein-related peptidase 4 (KLK4). Data indicated that all mice showed peaks in the gross weight of volatiles and a similar weight of mineral at locations on incisors normally associated with early maturation. Thereafter, the content of volatiles on normal incisors declined rapidly by as much as 62%, but not by 100%, over 2 mm, accompanied by increases of ~threefold in mineral weights. Enamelin heterozygous mice (lower incisors) showed a decrease in volatile content across the maturation stage, yet mineral failed to increase significantly. Mmp20 null mice showed no significant loss of volatiles from maturing enamel, yet the amount of mineral increased. Klk4 null mice showed normal mineral acquisition up to early maturation, but the input of new volatiles in mid to late maturation caused the final mineralization to slow below normal levels. These results suggest that it is not only the amount of protein but also the nature or type of protein or fragments present in the local crystallite environment that affects their volumetric expansion as they mature. PMID:22243238

  6. Trajectories of cortical surface area and cortical volume maturation in normal brain development

    PubMed Central

    Ducharme, Simon; Albaugh, Matthew D.; Nguyen, Tuong-Vi; Hudziak, James J.; Mateos-Pérez, J.M.; Labbe, Aurelie; Evans, Alan C.; Karama, Sherif

    2015-01-01

    This is a report of developmental trajectories of cortical surface area and cortical volume in the NIH MRI Study of Normal Brain Development. The quality-controlled sample included 384 individual typically-developing subjects with repeated scanning (1–3 per subject, total scans n=753) from 4.9 to 22.3 years of age. The best-fit model (cubic, quadratic, or first-order linear) was identified at each vertex using mixed-effects models, with statistical correction for multiple comparisons using random field theory. Analyses were performed with and without controlling for total brain volume. These data are provided for reference and comparison with other databases. Further discussion and interpretation on cortical developmental trajectories can be found in the associated Ducharme et al.׳s article “Trajectories of cortical thickness maturation in normal brain development – the importance of quality control procedures” (Ducharme et al., 2015) [1]. PMID:26702424

  7. Working memory in Farsi-speaking children with normal development and cochlear implant.

    PubMed

    Soleymani, Zahra; Amidfar, Meysam; Dadgar, Hooshang; Jalaie, Shohre

    2014-04-01

    Working memory has an important role in language acquisition and development of cognition skills. The ability of encoding, storage and retrieval of phonological codes, as activities of working memory, acquired by audition sense. Children with cochlear implant experience a period that they are not able to perceive sounds. In order to assess the effect of hearing on working memory, we investigated working memory as a cognition skill in children with normal development and cochlear implant. Fifty students with normal hearing and 50 students with cochlear implant aged 5-7 years participated in this study. Children educated in the preschool, the first and second grades. Children with normal development were matched based on age, gender, and grade of education with cochlear implant. Two components of working memory including phonological loop and central executive were compared between two groups. Phonological loop assessed by nonword repetition task and forward digit span. To assess central executive component backward digit span was used. The developmental trend was studied in children with normal development and cochlear implant as well. The effect of age at implantation in children with cochlear implants on components of working memory was investigated. There are significant differences between children with normal development and cochlear implant in all tasks that assess working memory (p < 0.001). The children's age at implantation was negatively correlated with all tasks (p < 0.001). In contrast, duration of usage of cochlear implant set was positively correlated with all tasks (p < 0.001). The comparison of working memory between different grades showed significant differences both in children with normal development and in children with cochlear implant (p < 0.05). These results implied that children with cochlear implant may experience difficulties in working memory. Therefore, these children have problems in encoding, practicing, and repeating phonological

  8. Vacuum metal deposition: factors affecting normal and reverse development of latent fingerprints on polyethylene substrates.

    PubMed

    Jones, N; Stoilovic, M; Lennard, C; Roux, C

    2001-01-01

    Vacuum metal deposition (VMD) is an established technique for the development of latent fingerprints on non-porous surfaces. VMD has advantages over cyanoacrylate fuming, especially in circumstances where prints are old, have been exposed to adverse environmental conditions, or are present on semi-porous surfaces. Under normal circumstances, VMD produces 'negative' prints as zinc deposits onto the background substrate and not the print ridges themselves. A phenomenon of 'reverse' development, when zinc deposits onto the print ridges and not the background, has been reported by many authors but its causes have not been conclusively identified. Four plastic substrates were used in this study and these could be easily divided into two groups based on the types of development observed as the amount of deposited gold was increased. On group I plastics, identified as low-density polyethylene (LDPE), normal development then reverse development and finally no development resulted with increasing gold. On group II plastics, identified as high-density polyethylene (HDPE), normal development then over-development and finally poor-quality normal development resulted with increasing gold. Our results suggest that the difference between these plastic types causes variations in the gold film structure which in turn dictates the nature of the zinc deposition. On group I plastics, the structure and thickness of the gold film has been identified as the critical factor in the occurrence of normal or reverse development. Thin gold films on plastic substrates form small 'clusters' (or agglomerates) rather than the atoms being uniformly spread over the surface. The size and shape of these clusters is critical. Once the clusters reach a certain morphology, they no longer act as nucleation sites for zinc, and hence, zinc will not deposit onto the substrate. On group II plastics, results suggest that the gold clusters are smaller and more densely packed. Hence, even though the same amount

  9. Undergraduate and Postgraduate Teaching of Neurology. Final Report.

    ERIC Educational Resources Information Center

    Abrahamson, Stephen; Barrows, Howard S.

    This report describes a curriculum development project aimed at improving the teaching of neurology to undergraduate medical students; and providing more effective instruction in neurology for the practicing physician. The project involved: (1) development of a balanced presentation of neurological teaching from undergraduate medical education…

  10. Wikipedia and neurological disorders.

    PubMed

    Brigo, Francesco; Igwe, Stanley C; Nardone, Raffaele; Lochner, Piergiorgio; Tezzon, Frediano; Otte, Willem M

    2015-07-01

    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.

  11. Biomechanical Analysis of Normal Brain Development during the First Year of Life Using Finite Strain Theory.

    PubMed

    Kim, Jeong Chul; Wang, Li; Shen, Dinggang; Lin, Weili

    2016-12-02

    The first year of life is the most critical time period for structural and functional development of the human brain. Combining longitudinal MR imaging and finite strain theory, this study aimed to provide new insights into normal brain development through a biomechanical framework. Thirty-three normal infants were longitudinally imaged using MRI from 2 weeks to 1 year of age. Voxel-wise Jacobian determinant was estimated to elucidate volumetric changes while Lagrange strains (both normal and shear strains) were measured to reveal directional growth information every 3 months during the first year of life. Directional normal strain maps revealed that, during the first 6 months, the growth pattern of gray matter is anisotropic and spatially inhomogeneous with higher left-right stretch around the temporal lobe and interhemispheric fissure, anterior-posterior stretch in the frontal and occipital lobes, and superior-inferior stretch in right inferior occipital and right inferior temporal gyri. In contrast, anterior lateral ventricles and insula showed an isotropic stretch pattern. Volumetric and directional growth rates were linearly decreased with age for most of the cortical regions. Our results revealed anisotropic and inhomogeneous brain growth patterns of the human brain during the first year of life using longitudinal MRI and a biomechanical framework.

  12. Biomechanical Analysis of Normal Brain Development during the First Year of Life Using Finite Strain Theory

    PubMed Central

    Kim, Jeong Chul; Wang, Li; Shen, Dinggang; Lin, Weili

    2016-01-01

    The first year of life is the most critical time period for structural and functional development of the human brain. Combining longitudinal MR imaging and finite strain theory, this study aimed to provide new insights into normal brain development through a biomechanical framework. Thirty-three normal infants were longitudinally imaged using MRI from 2 weeks to 1 year of age. Voxel-wise Jacobian determinant was estimated to elucidate volumetric changes while Lagrange strains (both normal and shear strains) were measured to reveal directional growth information every 3 months during the first year of life. Directional normal strain maps revealed that, during the first 6 months, the growth pattern of gray matter is anisotropic and spatially inhomogeneous with higher left-right stretch around the temporal lobe and interhemispheric fissure, anterior-posterior stretch in the frontal and occipital lobes, and superior-inferior stretch in right inferior occipital and right inferior temporal gyri. In contrast, anterior lateral ventricles and insula showed an isotropic stretch pattern. Volumetric and directional growth rates were linearly decreased with age for most of the cortical regions. Our results revealed anisotropic and inhomogeneous brain growth patterns of the human brain during the first year of life using longitudinal MRI and a biomechanical framework. PMID:27910866

  13. Preclinical models of muscle spasticity: valuable tools in the development of novel treatment for neurological diseases and conditions.

    PubMed

    Bespalov, Anton; Mus, Liudmila; Zvartau, Edwin

    2016-05-01

    Poor validity of preclinical animal models is one of the most commonly discussed explanations for the failures to develop novel drugs in general and in neuroscience in particular. However, there are several areas of neuroscience such as injury-induced spasticity where etiological factor can be adequately recreated and models can focus on specific pathophysiological mechanisms that likely contribute to spasticity syndrome in humans (such as motoneuron hyperexcitability and spinal hyperreflexia). Methods used to study spasticity in preclinical models are expected to have a high translational value (e.g., electromyogram (EMG)-based electrophysiological tools) and can efficiently assist clinical development programs. However, validation of these models is not complete yet. First, true predictive validity of these models is not established as clinically efficacious drugs have been used to reverse validate preclinical models while newly discovered mechanisms effective in preclinical models are yet to be fully explored in humans (e.g., 5-HT2C receptor inverse agonists, fatty acid amid hydrolase inhibitors). Second, further efforts need to be invested into cross-laboratory validation of study protocols and tools, adherence to the highest quality standards (blinding, randomization, pre-specified study endpoints, etc.), and systematic efforts to replicate key sets of data. These appear to be readily achievable tasks that will enable development not only of symptomatic but also of disease-modifying therapy of spasticity, an area that seems to be currently not in focus of research efforts.

  14. Neurological Complications of Lyme Disease

    MedlinePlus

    ... here Home » Disorders » All Disorders Neurological Complications of Lyme Disease Information Page Neurological Complications of Lyme Disease Information Page What research is being done? The ...

  15. [The neuropediatrician and the pediatric neurological emergencies].

    PubMed

    García-Peñas, J J; Muñoz-Orduña, R

    2008-01-01

    Knowledge of the spectrum and frequencies of pediatric neurological emergencies presenting to an emergency department is vital in optimizing the quality of care delivered locally. To know the real incidence of pediatric neurological emergencies. We present an observational study of a cohort of histories of neurological emergencies at a pediatric tertiary hospital during a period of one year. On analysis of all emergencies (93,469 cases), 1,760 were neurological conditions. The commonest causes of consultation were acute paroxysmal episodes (48%), headache (41%) and gait disturbances (5%). Headache was the most often made diagnoses (39%), followed by acute non-epileptic paroxysmal episodes (20%) and e pileptic seizures (15%). Only 17% of patients needed hospital admission, being epilepsy the most frequent diagnoses involved (41%). The most common reasons for attending the pediatric emergency department are gastrointestinal and respiratory illnesses, neurological emergencies, and neonatal problems. Four illnesses, i.e. headaches, acute non-epileptic paroxysmal episodes, epileptic seizures and febrile convulsions, comprise nearly 85% of all the emergency visits of neurological origin. Neurological emergencies constitute a large percentage of pediatric emergencies. Guidelines developed for neurological emergencies should target the commonest presenting problem categories.

  16. The effect of tiagabine on physical development and neurological reflexes and their relationship with the γ-aminobutyric acid switch in the rat cerebral cortex during developmental stages.

    PubMed

    Shahrokhi, Amene; Hassanzadeh, Gholamreza; Vousooghi, Nasim; Joghataei, Mohammad T; Eftekhari, Sanaz; Zarrindast, Mohammad R

    2013-10-01

    In the present study, we focused on γ-aminobutyric acid (GABA) signaling through the γ-aminobutyric acid transporter (GAT) in the developing rat cerebral cortex. Tiagabine was used as a GAT inhibitor. The offspring received injections from birth until postnatal day 21 intraperitoneally. Physical development and neurological reflexes were assessed daily. Tiagabine did not influence body weight, the onset and completion of incisor eruption, or the time to appearance of cliff avoidance. However, the onset and completion of eye opening, ear unfolding, and fur growth occurred earlier in treated pups. Further, the slanted board test and righting reflex showed accelerated development (i.e. decreased time to criterion) when compared with the control group. To determine whether the obtained effects are related to the GABA switch, we examined the protein and mRNA expression of the K(+)-Cl(-) cotransporter KCC2 using western blotting and RT-PCR, respectively. Downregulation of KCC2 mRNA and protein levels was observed when GAT was inhibited. The results may indicate a role of GAT in the neurobehavioral changes that accompany the developmental switch in GABA function.

  17. Development of AMPA receptor and GABA B receptor-sensitive spinal hyper-reflexia after spinal air embolism in rat: a systematic neurological, electrophysiological and qualitative histopathological study

    PubMed Central

    Kakinohana, Osamu; Scadeng, Miriam; Corleto, Jose A.; Sevc, Juraj; Lukacova, Nadezda; Marsala, Martin

    2012-01-01

    Decompression sickness results from formation of bubbles in the arterial and venous system, resulting in spinal disseminated neurodegenerative changes and may clinically be presented by motor dysfunction, spinal segmental stretch hyper-reflexia (i.e., spasticity) and muscle rigidity. In our current study, we describe a rat model of spinal air embolism characterized by the development of similar spinal disseminated neurodegenerative changes and functional deficit. In addition, the anti-spastic potency of systemic AMPA receptor antagonist (NGX424) or GABA B receptor agonist (baclofen) treatment was studied. To induce spinal air embolism, animals received an intra-aortic injection of air (50–200 μl/kg). After embolism, the development of spasticity was measured using computer-controlled ankle rotation. Animals receiving 150 or 200 μl of intra-aortic air injections displayed motor dysfunction with developed spastic (50–60% of animals) or flaccid (25–35% of animals) paraplegia at 5–7 days. MRI and spinal histopathological analysis showed disseminated spinal cord infarcts in the lower thoracic to sacral spinal segments. Treatment with NGX424 or baclofen provided a potent anti-spasticity effect (i.e., stretch hyper-reflexia inhibition). This model appears to provide a valuable experimental tool to study the pathophysiology of air embolism-induced spinal injury and permits the assessment of new treatment efficacy targeted to modulate neurological symptoms resulting from spinal air embolism. PMID:22721766

  18. Normal Brain-Skull Development with Hybrid Deformable VR Models Simulation.

    PubMed

    Jin, Jing; De Ribaupierre, Sandrine; Eagleson, Roy

    2016-01-01

    This paper describes a simulation framework for a clinical application involving skull-brain co-development in infants, leading to a platform for craniosynostosis modeling. Craniosynostosis occurs when one or more sutures are fused early in life, resulting in an abnormal skull shape. Surgery is required to reopen the suture and reduce intracranial pressure, but is difficult without any predictive model to assist surgical planning. We aim to study normal brain-skull growth by computer simulation, which requires a head model and appropriate mathematical methods for brain and skull growth respectively. On the basis of our previous model, we further specified suture model into fibrous and cartilaginous sutures and develop algorithm for skull extension. We evaluate the resulting simulation by comparison with datasets of cases and normal growth.

  19. Development of isolation-induced vocal behavior in normal-hearing and deafened guinea pig infants.

    PubMed

    Arch-Tirado, E; McCowan, B; Saltijeral-Oaxaca, J; Zarco de Coronado, I; Licona-Bonilla, J

    2000-04-01

    Infants in many different animal species require auditory information from conspecifics to learn appropriate responses to important environmental and social cues. Isolation calls are emitted by infant guinea pigs in contexts of social separation from their mothers. The aim of the present study was to examine the ontogeny of the isolation calls in normal-hearing and deafened infant guinea pigs, from 2 to 40 days postpartum and to determine the role of hearing maternal vocalization in infant guinea pig vocal responses in contexts of social proximity and isolation. Female newborn pigmented guinea pigs (Cavia porcellus) were housed with their birth mother and siblings. Water and dry food were available ad libitum. One day postpartum, the cochlea of infants in the experimental group was destroyed. The control group consisted of normal-hearing female siblings. Vocalizations from infants in the experimental and control groups were recorded for 6 minutes when with the mother before isolation, 6 minutes when alone, and then 6 minutes when with the mother after reunion. Recordings were made 5 days per week from 2 to 40 days after birth. The duration of calling was calculated for each 6-minute period of recording. Results demonstrated that deaf infants vocalize more than normal-hearing infants during social isolation from their mothers. Vocal activity of isolated deaf and normal-hearing infants decreased substantially over development, almost disappearing by the end of the study period. These results indicate that maternal vocal behavior modulates the vocal responses of guinea pigs early in infant development and supports other evidence that the guinea pig offers a viable model for investigating audition in deaf and normal-hearing human infants.

  20. Connective tissue growth factor is required for normal follicle development and ovulation.

    PubMed

    Nagashima, Takashi; Kim, Jaeyeon; Li, Qinglei; Lydon, John P; DeMayo, Francesco J; Lyons, Karen M; Matzuk, Martin M

    2011-10-01

    Connective tissue growth factor (CTGF) is a cysteine-rich protein the synthesis and secretion of which are hypothesized to be selectively regulated by activins and other members of the TGF-β superfamily. To investigate the in vivo roles of CTGF in female reproduction, we generated Ctgf ovarian and uterine conditional knockout (cKO) mice. Ctgf cKO mice exhibit severe subfertility and multiple reproductive defects including disrupted follicle development, decreased ovulation rates, increased numbers of corpus luteum, and smaller but functionally normal uterine horns. Steroidogenesis is disrupted in the Ctgf cKO mice, leading to increased levels of serum progesterone. We show that disrupted follicle development is accompanied by a significant increase in granulosa cell apoptosis. Moreover, despite normal cumulus expansion, Ctgf cKO mice exhibit a significant decrease in oocytes ovulated, likely due to impaired ovulatory process. During analyses of mRNA expression, we discovered that Ctgf cKO granulosa cells show gene expression changes similar to our previously reported granulosa cell-specific knockouts of activin and Smad4, the common TGF-β family intracellular signaling protein. We also discovered a significant down-regulation of Adamts1, a progesterone-regulated gene that is critical for the remodeling of extracellular matrix surrounding granulosa cells of preovulatory follicles. These findings demonstrate that CTGF is a downstream mediator in TGF-β and progesterone signaling cascades and is necessary for normal follicle development and ovulation.

  1. Protein tyrosine phosphatase activity in the neural crest is essential for normal heart and skull development

    PubMed Central

    Nakamura, Tomoki; Gulick, James; Colbert, Melissa C.; Robbins, Jeffrey

    2009-01-01

    Mutations within the protein tyrosine phosphatase, SHP2, which is encoded by PTPN11, cause a significant proportion of Noonan syndrome (NS) cases, typically presenting with both cardiac disease and craniofacial abnormalities. Neural crest cells (NCCs) participate in both heart and skull formation, but the role of SHP2 signaling in NCC has not yet been determined. To gain insight into the role of SHP2 in NCC function, we ablated PTPN11 specifically in premigratory NCCs. SHP2-deficient NCCs initially exhibited normal migratory and proliferative patterns, but in the developing heart failed to migrate into the developing outflow tract. The embryos displayed persistent truncus arteriosus and abnormalities of the great vessels. The craniofacial deficits were even more pronounced, with large portions of the face and cranium affected, including the mandible and frontal and nasal bones. The data show that SHP2 activity in the NCC is essential for normal migration and differentiation into the diverse lineages found in the heart and skull and demonstrate the importance of NCC-based normal SHP2 activity in both heart and skull development, providing insight into the syndromic presentation characteristic of NS. PMID:19541608

  2. Connective Tissue Growth Factor Is Required for Normal Follicle Development and Ovulation

    PubMed Central

    Nagashima, Takashi; Kim, Jaeyeon; Li, Qinglei; Lydon, John P.; DeMayo, Francesco J.; Lyons, Karen M.

    2011-01-01

    Connective tissue growth factor (CTGF) is a cysteine-rich protein the synthesis and secretion of which are hypothesized to be selectively regulated by activins and other members of the TGF-β superfamily. To investigate the in vivo roles of CTGF in female reproduction, we generated Ctgf ovarian and uterine conditional knockout (cKO) mice. Ctgf cKO mice exhibit severe subfertility and multiple reproductive defects including disrupted follicle development, decreased ovulation rates, increased numbers of corpus luteum, and smaller but functionally normal uterine horns. Steroidogenesis is disrupted in the Ctgf cKO mice, leading to increased levels of serum progesterone. We show that disrupted follicle development is accompanied by a significant increase in granulosa cell apoptosis. Moreover, despite normal cumulus expansion, Ctgf cKO mice exhibit a significant decrease in oocytes ovulated, likely due to impaired ovulatory process. During analyses of mRNA expression, we discovered that Ctgf cKO granulosa cells show gene expression changes similar to our previously reported granulosa cell-specific knockouts of activin and Smad4, the common TGF-β family intracellular signaling protein. We also discovered a significant down-regulation of Adamts1, a progesterone-regulated gene that is critical for the remodeling of extracellular matrix surrounding granulosa cells of preovulatory follicles. These findings demonstrate that CTGF is a downstream mediator in TGF-β and progesterone signaling cascades and is necessary for normal follicle development and ovulation. PMID:21868453

  3. The neurology of rhizomelic chondrodysplasia punctata

    PubMed Central

    2013-01-01

    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

  4. Learning with sublexical information from emerging reading vocabularies in exceptionally early and normal reading development.

    PubMed

    Thompson, G Brian; Fletcher-Flinn, Claire M; Wilson, Kathryn J; McKay, Michael F; Margrain, Valerie G

    2015-03-01

    Predictions from theories of the processes of word reading acquisition have rarely been tested against evidence from exceptionally early readers. The theories of Ehri, Share, and Byrne, and an alternative, Knowledge Sources theory, were so tested. The former three theories postulate that full development of context-free letter sounds and awareness of phonemes are required for normal acquisition, while the claim of the alternative is that with or without such, children can use sublexical information from their emerging reading vocabularies to acquire word reading. Results from two independent samples of children aged 3-5, and 5 years, with mean word reading levels of 7 and 9 years respectively, showed underdevelopment of their context-free letter sounds and phoneme awareness, relative to their word reading levels and normal comparison samples. Despite such underdevelopment, these exceptional readers engaged in a form of phonological recoding that enabled pseudoword reading, at the level of older-age normal controls matched on word reading level. Moreover, in the 5-year-old sample further experiments showed that, relative to normal controls, they had a bias toward use of sublexical information from their reading vocabularies for phonological recoding of heterophonic pseudowords with irregular consistent spelling, and were superior in accessing word meanings independently of phonology, although only if the readers were without exposure to explicit phonics. The three theories were less satisfactory than the alternative theory in accounting for the learning of the exceptionally early readers. Copyright © 2014 Elsevier B.V. All rights reserved.

  5. Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.

    PubMed

    Hromatka, Bethann S; Tung, Joyce Y; Kiefer, Amy K; Do, Chuong B; Hinds, David A; Eriksson, Nicholas

    2015-05-01

    Roughly one in three individuals is highly susceptible to motion sickness and yet the underlying causes of this condition are not well understood. Despite high heritability, no associated genetic factors have been discovered. Here, we conducted the first genome-wide association study on motion sickness in 80 494 individuals from the 23andMe database who were surveyed about car sickness. Thirty-five single-nucleotide polymorphisms (SNPs) were associated with motion sickness at a genome-wide-significant level (P < 5 × 10(-8)). Many of these SNPs are near genes involved in balance, and eye, ear and cranial development (e.g. PVRL3, TSHZ1, MUTED, HOXB3, HOXD3). Other SNPs may affect motion sickness through nearby genes with roles in the nervous system, glucose homeostasis or hypoxia. We show that several of these SNPs display sex-specific effects, with up to three times stronger effects in women. We searched for comorbid phenotypes with motion sickness, confirming associations with known comorbidities including migraines, postoperative nausea and vomiting (PONV), vertigo and morning sickness and observing new associations with altitude sickness and many gastrointestinal conditions. We also show that two of these related phenotypes (PONV and migraines) share underlying genetic factors with motion sickness. These results point to the importance of the nervous system in motion sickness and suggest a role for glucose levels in motion-induced nausea and vomiting, a finding that may provide insight into other nausea-related phenotypes like PONV. They also highlight personal characteristics (e.g. being a poor sleeper) that correlate with motion sickness, findings that could help identify risk factors or treatments.

  6. Expression and activity of L-Myc in normal mouse development.

    PubMed Central

    Hatton, K S; Mahon, K; Chin, L; Chiu, F C; Lee, H W; Peng, D; Morgenbesser, S D; Horner, J; DePinho, R A

    1996-01-01

    To determine the role of L-Myc in normal mammalian development and its functional relationship to other members of the Myc family, we determined the normal patterns of L-myc gene expression in the developing mouse by RNA in situ hybridization and assessed the phenotypic impact of L-Myc deficiency produced through standard gene targeting methodology. L-myc transcripts were detected in the developing kidney and lung as well as in both the proliferative and the differentiative zones of the brain and neural tube. Despite significant expression of L-myc in developing mouse tissue, homozygous null L-myc mice were found to be viable, reproductively competent, and represented in expected frequencies from heterozygous matings. A detailed histological survey of embryonic and adult tissues, characterization of an embryonic neuronal marker, and measurement of cellular proliferation in situ did not reveal any congenital abnormalities. The lack of an apparent phenotype associated with L-Myc deficiency indicates that L-Myc is dispensable for gross morphological development and argues against a unique role for L-Myc in early central nervous system development as had been previously suggested. Although overlapping expression patterns among myc family members raise the possibility of complementation of L-Myc deficiency by other Myc oncoproteins, compensatory changes in the levels of c- and/or N-myc transcripts were not detected in homozygous null L-myc mice. PMID:8657155

  7. Development of a theory of implementation and integration: Normalization Process Theory

    PubMed Central

    May, Carl R; Mair, Frances; Finch, Tracy; MacFarlane, Anne; Dowrick, Christopher; Treweek, Shaun; Rapley, Tim; Ballini, Luciana; Ong, Bie Nio; Rogers, Anne; Murray, Elizabeth; Elwyn, Glyn; Légaré, France; Gunn, Jane; Montori, Victor M

    2009-01-01

    Background Theories are important tools in the social and natural sciences. The methods by which they are derived are rarely described and discussed. Normalization Process Theory explains how new technologies, ways of acting, and ways of working become routinely embedded in everyday practice, and has applications in the study of implementation processes. This paper describes the process by which it was built. Methods Between 1998 and 2008, we developed a theory. We derived a set of empirical generalizations from analysis of data collected in qualitative studies of healthcare work and organization. We developed an applied theoretical model through analysis of empirical generalizations. Finally, we built a formal theory through a process of extension and implication analysis of the applied theoretical model. Results Each phase of theory development showed that the constructs of the theory did not conflict with each other, had explanatory power, and possessed sufficient robustness for formal testing. As the theory developed, its scope expanded from a set of observed regularities in data with procedural explanations, to an applied theoretical model, to a formal middle-range theory. Conclusion Normalization Process Theory has been developed through procedures that were properly sceptical and critical, and which were opened to review at each stage of development. The theory has been shown to merit formal testing. PMID:19460163

  8. 75 FR 3475 - National Institute Of Neurological Disorders and Stroke; Notice of Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-01-21

    ... HUMAN SERVICES National Institutes of Health National Institute Of Neurological Disorders and Stroke.... App.), notice is hereby given of meetings of the National Advisory Neurological Disorders and Stroke... Neurological Disorders and Stroke Council; Training, Career Development, and Special Programs Subcommittee...

  9. Neurologic manifestations of achondroplasia.

    PubMed

    Hecht, Jacqueline T; Bodensteiner, John B; Butler, Ian J

    2014-01-01

    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.

  10. Neurologic complications of immunizations.

    PubMed

    Rutledge, S L; Snead, O C

    1986-12-01

    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.

  11. Neurology and Don Quixote.

    PubMed

    Palma, Jose-Alberto; Palma, Fermin

    2012-01-01

    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. Copyright © 2012 S. Karger AG, Basel.

  12. R-spondin1 is required for normal epithelial morphogenesis during mammary gland development.

    PubMed

    Chadi, Sead; Buscara, Laurine; Pechoux, Christine; Costa, José; Laubier, Johann; Chaboissier, Marie-Christine; Pailhoux, Eric; Vilotte, Jean-Luc; Chanat, Eric; Le Provost, Fabienne

    2009-12-18

    The R-spondin (Rspo) proteins constitute a novel class of ligands that induce Wnt signalling. Rspo1 knockout XX mice were previously shown to be sex-reversed, but some remain sub-fertile. These last were unable to feed their pups for some unknown reason. Using these mice and transplanted mammary tissues from Rspo1(-/-) virgin mice in nude mice, we report that the lack of Rspo1 expression results in the absence of duct side-branching development and subsequent alveolar formation, explaining the above mentioned phenotype. Our data demonstrate that local epithelial Rspo1 signalling is required for normal development of the mammary gland.

  13. Effects of pre- and postnatal exposure to the UV-filter Octyl Methoxycinnamate (OMC) on the reproductive, auditory and neurological development of rat offspring

    SciTech Connect

    Axelstad, Marta; Boberg, Julie; Hougaard, Karin Sorig; Christiansen, Sofie; Jacobsen, Pernille Rosenskjold; Mandrup, Karen Riiber; Nellemann, Christine; Lund, Soren Peter; Hass, Ulla

    2011-02-01

    Octyl Methoxycinnamate (OMC) is a frequently used UV-filter in sunscreens and other cosmetics. The aim of the present study was to address the potential endocrine disrupting properties of OMC, and to investigate how OMC induced changes in thyroid hormone levels would be related to the neurological development of treated offspring. Groups of 14-18 pregnant Wistar rats were dosed with 0, 500, 750 or 1000 mg OMC/kg bw/day during gestation and lactation. Serum thyroxine (T{sub 4}), testosterone, estradiol and progesterone levels were measured in dams and offspring. Anogenital distance, nipple retention, postnatal growth and timing of sexual maturation were assessed. On postnatal day 16, gene expression in prostate and testes, and weight and histopathology of the thyroid gland, liver, adrenals, prostate, testes, epididymis and ovaries were measured. After weaning, offspring were evaluated in a battery of behavioral and neurophysiological tests, including tests of activity, startle response, cognitive and auditory function. In adult animals, reproductive organ weights and semen quality were investigated. Thyroxine (T{sub 4}) levels showed a very marked decrease during the dosing period in all dosed dams, but were less severely affected in the offspring. On postnatal day 16, high dose male offspring showed reduced relative prostate and testis weights, and a dose-dependent decrease in testosterone levels. In OMC exposed female offspring, motor activity levels were decreased, while low and high dose males showed improved spatial learning abilities. The observed behavioral changes were probably not mediated solely by early T{sub 4} deficiencies, as the observed effects differed from those seen in other studies of developmental hypothyroxinemia. At eight months of age, sperm counts were reduced in all three OMC-dosed groups, and prostate weights were reduced in the highest dose group. Taken together, these results indicate that perinatal OMC-exposure can affect both the

  14. Spatial contrast sensitivity in clinical neurology.

    PubMed

    Bulens, C; Meerwaldt, J D; van der Wildt, G J; Keemink, C J

    1988-01-01

    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.

  15. Cranial index of children with normal and abnormal brain development in Sokoto, Nigeria: A comparative study

    PubMed Central

    Musa, Muhammad Awwal; Zagga, Abdullahi Daudu; Danfulani, Mohammed; Tadros, Aziz Abdo; Ahmed, Hamid

    2014-01-01

    Background: Abnormal brain development due to neurodevelopmental disorders in children has always been an important concern, but yet has to be considered as a significant public health problem, especially in the low- and middle-income countries including Nigeria. Aims: The aim of this study is to determine whether abnormal brain development in the form of neurodevelopmental disorders causes any deviation in the cranial index of affected children. Materials and Methods: This is a comparative study on the head length, head width, and cranial index of 112 children (72 males and 40 females) diagnosed with at least one abnormal problem in brain development, in the form of a neurodevelopmental disorder (NDD), in comparison with that of 218 normal growing children without any form of NDD (121 males and 97 females), aged 0-18 years old seen at the Usmanu Danfodiyo University Teaching Hospital, Sokoto, over a period of six months, June to December, 2012. The head length and head width of the children was measured using standard anatomical landmarks and cranial index calculated. The data obtained was entered into the Microsoft excel worksheet and analyzed using SPSS version 17. Results: The mean Cephalic Index for normal growing children with normal brain development was 79.82 ± 3.35 and that of the children with abnormal brain development was 77.78 ± 2.95 and the difference between the two groups was not statistically significant (P > 0.05). Conclusion: It can be deduced from this present study that the cranial index does not change in children with neurodevelopmental disorders. PMID:24966551

  16. EEG in Sarcoidosis Patients Without Neurological Findings.

    PubMed

    Bilgin Topçuoğlu, Özgür; Kavas, Murat; Öztaş, Selahattin; Arınç, Sibel; Afşar, Gülgün; Saraç, Sema; Midi, İpek

    2017-01-01

    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.

  17. Neurological Complications of Endocrine Disease.

    PubMed

    Carvalho, Karen S; Grunwald, Tal; De Luca, Francesco

    2017-02-01

    The endocrine system is a complex group of organs and glands that relates to multiple other organs and systems in the body with the ultimate goal of maintaining homeostasis. This complex network functions through hormones excreted by several glands and released in the blood, targeting different body tissues and modulating their function. Any primary disorders affecting the endocrine glands and altering the amount of hormones synthesized and released will lead to disruption in the functions of multiple organs. The central nervous system of a developing child is particularly sensitive to endocrine disorders. A variety of neurological manifestations have been described as features of several endocrine diseases in childhood. Their knowledge may contribute to an early diagnosis of a particular endocrine condition, especially when more typical features are not present yet. In this article, we discuss specific neurological manifestations found in various endocrine disorders in children. Copyright © 2017 Elsevier Inc. All rights reserved.

  18. Neurologic Complications of Transplantation.

    PubMed

    Dhar, Rajat

    2017-03-01

    Neurologic disturbances including encephalopathy, seizures, and focal deficits complicate the course 10-30% of patients undergoing organ or stem cell transplantation. While much or this morbidity is multifactorial and often associated with extra-cerebral dysfunction (e.g., graft dysfunction, metabolic derangements), immunosuppressive drugs also contribute significantly. This can either be through direct toxicity (e.g., posterior reversible encephalopathy syndrome from calcineurin inhibitors such as tacrolimus in the acute postoperative period) or by facilitating opportunistic infections in the months after transplantation. Other neurologic syndromes such as akinetic mutism and osmotic demyelination may also occur. While much of this neurologic dysfunction may be reversible if related to metabolic factors or drug toxicity (and the etiology is recognized and reversed), cases of multifocal cerebral infarction, hemorrhage, or infection may have poor outcomes. As transplant patients survive longer, delayed infections (such as progressive multifocal leukoencephalopathy) and post-transplant malignancies are increasingly reported.

  19. Genomics in neurological disorders.

    PubMed

    Han, Guangchun; Sun, Jiya; Wang, Jiajia; Bai, Zhouxian; Song, Fuhai; Lei, Hongxing

    2014-08-01

    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.

  20. NICE and neurology.

    PubMed

    Chadwick, David

    2009-10-01

    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.

  1. Plasticity in the development of handedness: evidence from normal development and early asymmetric brain injury.

    PubMed

    Corbetta, Daniela; Williams, Joshua; Snapp-Childs, Winona

    2006-09-01

    Previous research revealed that shifting patterns of hand preference in the first year of life are linked to infants' sensory-motor experiences as they learn to sit, creep, and walk. In this report, we examine whether new and different forms of locomotion and sensory-motor experiences similarly contribute to alter patterns of hand preference in early development. We examined the cases of three infants with unique developmental histories. Two infants adopted distinctive forms of locomotion in lieu of typical hands-and-knees crawling. One infant scooted using both hands and legs in a coupled fashion, while the other infant performed an asymmetrical, left-biased belly-crawl using only one arm to drag his body. The third infant suffered damage to his left-brain hemisphere shortly after birth and received intense physical therapy to his right arm as a result of it. We followed all three infants on a weekly basis and tracked changes in their reaching behavior, mode of locomotion, and postural achievements. The two infants with unique locomotor patterns displayed changes in hand preference that reciprocated the arm patterns that they used during locomotion. The infant who coupled his body for scooting began to reach bimanually, while the infant who adopted the left-biased belly-crawl developed a strong unimanual, right-hand, preference. The infant with left-hemisphere damage initially displayed a right-hand preference, then a temporary decline in preferred hand use as he began to cruise and walk, and ultimately resumed a right-hand preference in the 2nd year of life. This data is consistent with previous work showing that the development of hand preference in the 1st year of life is highly malleable and sensitive to a variety of new sensory-motor experiences.

  2. Neurocritical care education during neurology residency

    PubMed Central

    Drogan, O.; Manno, E.; Geocadin, R.G.; Ziai, W.

    2012-01-01

    Objective: Limited information is available regarding the current state of neurocritical care education for neurology residents. The goal of our survey was to assess the need and current state of neurocritical care training for neurology residents. Methods: A survey instrument was developed and, with the support of the American Academy of Neurology, distributed to residency program directors of 132 accredited neurology programs in the United States in 2011. Results: A response rate of 74% (98 of 132) was achieved. A dedicated neuroscience intensive care unit (neuro-ICU) existed in 64%. Fifty-six percent of residency programs offer a dedicated rotation in the neuro-ICU, lasting 4 weeks on average. Where available, the neuro-ICU rotation was required in the vast majority (91%) of programs. Neurology residents' exposure to the fundamental principles of neurocritical care was obtained through a variety of mechanisms. Of program directors, 37% indicated that residents would be interested in performing away rotations in a neuro-ICU. From 2005 to 2010, the number of programs sending at least one resident into a neuro-ICU fellowship increased from 14% to 35%. Conclusions: Despite the expansion of neurocritical care, large proportions of US neurology residents have limited exposure to a neuro-ICU and neurointensivists. Formal training in the principles of neurocritical care may be highly variable. The results of this survey suggest a charge to address the variability of resident education and to develop standardized curricula in neurocritical care for neurology residents. PMID:22573636

  3. The prelexical development in children implanted by 16 months compared with normal hearing children.

    PubMed

    Schramm, Bianka; Bohnert, Andrea; Keilmann, Annerose

    2009-12-01

    Few studies exist which document the early speech development of German-speaking children or German-speaking children who are deaf and using cochlear implants. The current study aims to: (1) document the pre-canonical and canonical speech development of German-speaking children who are deaf and receive cochlear implants by the age of 16 months and (2) compare these children's results with those of children with normal hearing. This longitudinal study included 5 German-speaking children with normal hearing and 5 with sensorineural deafness. All children from the deaf group received hearing amplification before cochlear implantation, received their first implant by 16 months of age, and became bilateral implant users by 31 months of age. The pre-canonical and canonical vocalisations of each child were recorded on video- and audiotapes in a semi-standardised playing situation every 4 weeks over a span of 1 year. In the cochlear implant group, the recording started 4-5 days postoperatively (first implant); in the normal hearing group it began between the ages of 4 and 5 months. The video and audio recordings were analysed using EUDICO Linguistic Annotator version 2.4 (Nijmegen, The Netherlands) and International Phonetic Alphabet transcription. Both groups showed individual patterns of babbling acquisition, though the groups' patterns of acquisition were similar when analysed for consonant manner and place. Some children started with plosives and others, with nasals, but all acquired fricatives and laterals next. Onset of canonical babbling for children in the cochlear implant group began 0-4 months after first fitting of the first device, while children from the normal hearing group demonstrated an onset of canonical babbling between 4 and 9 months of age. Our results show that deaf children who receive cochlear implants at an early age are capable of reaching the canonical babbling milestone in a shorter time than children with normal hearing typically do and that

  4. Neurologic effects of alcoholism.

    PubMed Central

    Diamond, I; Messing, R O

    1994-01-01

    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

  5. Creativity and neurological disease.

    PubMed

    Acosta, Lealani Mae Y

    2014-08-01

    Although humans have long valued creativity, the generation of such innovation is still incompletely understood. Looking at the healthy brain, researchers have localized certain parts for a basic understanding of these mechanisms. By researching the brain affected by neurological disease, scientists have observed unique manifestations of creativity, such as in frontotemporal lobar degeneration, Alzheimer's disease, Parkinson's disease and parkinsonian spectrum disorders, and stroke, which help clarify these creative underpinnings. Incorporating both healthy and disease models of cerebral functioning, neurological and neuroscientific research from recent years has built on established theories and expanded current knowledge.

  6. Neurologic Complications and Treatment.

    PubMed

    Welch, Kevin C

    2015-10-01

    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.

  7. Flower development in normal tomato and a gibberellin-deficient (ga-2) mutant

    SciTech Connect

    Vester, J.E.; Zeevaart, J.A.D. )

    1988-01-01

    Flower buds of a tomato (Lycopersicon esculentum Mill.) gibberellin-deficient mutant (ga-2/ga-2) were initiated, but did not develop to maturity and eventually aborted. If GA{sub 1} was applied to a developing inflorescence or stem tip, completion of flower bud development and fruit set occurred. In development of the ga-2 flowers, the corolla and stamens did not elongate and the style was misshapen or extended past the tip of the anthers. Light microscope observation indicated that meiosis of both microsporocytes and megasporocytes did not occur. Cells of the sporogenous layer were initiated, but growth was arrested and they eventually degenerated. The ovary was normal in appearance. However, the megasporocytes degenerated, giving rise to a cavity in the ovule. Thus, although GA is not required for flower initiation in tomato, it is essential for meiosis of the microsporocytes and megasporocytes and elongation of the corolla and stamens.

  8. Importance of HOX genes in normal prostate gland formation, prostate cancer development and its early detection.

    PubMed

    Javed, Saqib; Langley, Stephen E M

    2014-04-01

    The aims of this paper were to review the published literature on the role of HOX genes in the development of the normal prostate gland and in prostate cancer and to discuss the potential role of the HOX family member, Engrailed-2 (EN2), as a diagnostic test of PCa. Hox genes were first described in the fruit fly Drosphila melanogaster, where they specify the body plan and control the formation of body segments. They belong to a family of homeodomain-containing transcription factors that determine cell and tissue identity during normal embryonic development. They have been shown to be re-expressed by several different types of cancers. Studies have shown that different Hox genes are responsible for the development of the separate lobes of the prostate gland, the seminal vesicles and the epididymis. All HOX13 paralogues are expressed in the adult human prostate, suggesting the possibility of similarities between the function and expression of HOX genes within urological structures at similar anterior-posterior positions. The oncogenic and tumour suppressor signalling pathways associated with PCa converge on the HOX gene network, which ultimately controls gene expression, affecting tumour formation and metastatic progression. The Engrailed genes (EN1 and EN2) from the HOX gene family show a very high degree of functional conservation during embryonic development. Urinary EN2 is being investigated as a potential diagnostic marker of early PCa. It is secreted into the urine by PCa cells but not by normal prostatic tissue. A recent study has shown an association between urinary EN2 levels and cancer volume in radical prostatectomy specimens. The ability to predict tumour volume could inform the treatment decision-making process for patients with localized PCa choosing between active surveillance and radical treatment options.

  9. [Normal and defective development of visual stimulus processing: psychophysical and electrophysiologic test results].

    PubMed

    Kau, T; Boergen, K P; Lorenz, B

    1990-01-01

    Two methods were developed for the assessment of normal and disturbed visual development in infancy and early childhood: the preferential looking procedure (PL) as a psychophysical method and measurement of visual evoked potentials (VEP) as an electrophysiological principle. Both methods test visual functions, but on different levels of the visual system. Proper interpretation of the methods requires direct comparison. This was accomplished over a 12-months period in infants and young children with normal and disturbed visual development in the first year of life. For normal infants older than 4 weeks we found accurately configurated VEP responses and rapidly increasing visual accuity, ranging from 0.4 cpd (age 2.5 weeks) to 10 cpd (36 weeks) and better. There was a close agreement between the VEP and PL results, possibly due to our conservative interpretation of VEP acuity, which was not extrapolated from the VEP amplitude versus spatial frequency function, but defined by the relationship to the simultaneously registered noise level of the responses. The last response that could be differentiated from this noise level was defined as VEP acuity in analogy to the acuity definition of the Teller acuity cards. In visually impaired children there was a delay in visual development. Visual deficits in congenital cataract were much more marked than in congenital squint. Infants with congenital cataract showed a nearly newborn stage when tested shortly after lensectomy. With our preliminary results is was not possible to determine any statistical relationship among the psychophysical, electrophysiological and clinical findings.(ABSTRACT TRUNCATED AT 250 WORDS)

  10. Immunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract development

    PubMed Central

    Jenkins, Dagan; Winyard, Paul J D; Woolf, Adrian S

    2007-01-01

    Studies of mouse mutants have demonstrated that Sonic hedgehog (SHH) signalling has a functional role in morphogenesis and differentiation at multiple sites within the forming urinary tract, and urinary tract malformations have been reported in humans with mutations that disrupt SHH signalling. However, there is only strikingly sparse and fragmentary information about the expression of SHH and associated signalling genes in normal human urinary tract development. We used immunohistochemistry to demonstrate that SHH protein was localised in distinct urinary tract epithelia in developing normal humans, in the urothelium of the nascent bladder and in kidney medullary collecting ducts. The expression patterns of the SHH-transducing proteins Patched (PTCH) and Smoothened (SMO) were consistent with long-range paracrine signalling associated with detrusor smooth muscle differentiation in the urogenital sinus. In the developing kidney, SHH and PTCH were expressed in epithelia of the collecting system between 16–26 weeks – surprisingly, SMO was not detected. Analysis of cell proliferation and Cyclin B1 immunohistochemistry at 26 weeks, as compared with a 28 week sample in which SHH expression was down-regulated, was consistent with the idea that SHH and PTCH might influence medullary collecting duct growth by regulating the subcellular localisation of Cyclin B1 independently of SMO. Collectively, these descriptive results generate new hypotheses regarding SHH signal transduction in human urinary tract development and help to explain the varied urinary tract malformation phenotypes noted in individuals with mutations in the SHH pathway. PMID:17850284

  11. Stromal Androgen Receptor Roles in the Development of Normal Prostate, Benign Prostate Hyperplasia, and Prostate Cancer

    PubMed Central

    Wen, Simeng; Chang, Hong-Chiang; Tian, Jing; Shang, Zhiqun; Niu, Yuanjie; Chang, Chawnshang

    2016-01-01

    The prostate is an androgen-sensitive organ that needs proper androgen/androgen receptor (AR) signals for normal development. The progression of prostate diseases, including benign prostate hyperplasia (BPH) and prostate cancer (PCa), also needs proper androgen/AR signals. Tissue recombination studies report that stromal, but not epithelial, AR plays more critical roles via the mesenchymal-epithelial interactions to influence the early process of prostate development. However, in BPH and PCa, much more attention has been focused on epithelial AR roles. However, accumulating evidence indicates that stromal AR is also irreplaceable and plays critical roles in prostate disease progression. Herein, we summarize the roles of stromal AR in the development of normal prostate, BPH, and PCa, with evidence from the recent results of in vitro cell line studies, tissue recombination experiments, and AR knockout animal models. Current evidence suggests that stromal AR may play positive roles to promote BPH and PCa progression, and targeting stromal AR selectively with AR degradation enhancer, ASC-J9, may allow development of better therapies with fewer adverse effects to battle BPH and PCa. PMID:25432062

  12. Cdk4 deficiency inhibits skin tumor development but does not affect normal keratinocyte proliferation.

    PubMed

    Rodriguez-Puebla, Marcelo L; Miliani de Marval, Paula L; LaCava, Margaret; Moons, David S; Kiyokawa, Hiroaki; Conti, Claudio J

    2002-08-01

    Most human tumors have mutations that result in deregulation of the cdk4/cyclin-Ink4-Rb pathway. Overexpression of D-type cyclins or cdk4 and inactivation of Ink4 inhibitors are common in human tumors. Conversely, lack of cyclin D1 expression results in significant reduction in mouse skin and mammary tumor development. However, complete elimination of tumor development was not observed in these models, suggesting that other cyclin/cdk complexes play an important role in tumorigenesis. Here we described the effects of cdk4 deficiency on mouse skin proliferation and tumor development. Cdk4 deficiency resulted in a 98% reduction in the number of tumors generated through the two-stage carcinogenesis model. The absence of cdk4 did not affect normal keratinocyte proliferation and both wild-type and cdk4 knockout epidermis are equally affected after topical treatment with the tumor promoter 12-O-tetradecanoylphorbol-13-acetate (TPA), resulting in epidermal hyperplasia. In similar fashion, cdk4 knockout keratinocytes proliferated well in an in vivo model of wound-induced proliferation. Biochemical studies in mouse epidermis showed that cdk6 activity increased twofold in cdk4-deficient mice compared to wild-type siblings. These results suggest that therapeutic approaches to inhibit cdk4 activity could provide a target to inhibit tumor development with minimal or no effect in normal tissue.

  13. New animal models to study the role of tyrosinase in normal retinal development.

    PubMed

    Lavado, Alfonso; Montoliu, Lluis

    2006-01-01

    Albino animals display a hypopigmented phenotype associated with several visual abnormalities, including rod photoreceptor cell deficits, abnormal patterns of connections between the eye and the brain and a general underdevelopment of central retina. Oculocutaneous albinism type I, a common form of albinism, is caused by mutations in the tyrosinase gene. In mice, the albino phenotype can be corrected by functional tyrosinase transgenes. Tyrosinase transgenic animals not only show normal pigmentation but the correction of all visual abnormalities associated with albinism, confirming a role of tyrosinase, a key enzyme in melanin biosynthesis, in normal retinal development. Here, we will discuss recent work carried out with new tyrosinase transgenic mouse models, to further analyse the role of tyrosinase in retinal development. We will first report a transgenic model with inducible tyrosinase expression that has been used to address the regulated activation of this gene and its associated effects on the development of the visual system. Second, we will comment on an interesting yeast artificial chromosome (YAC)-tyrosinase transgene, lacking important regulatory elements, that has highlighted the significance of local interactions between the retinal pigment epithelium (RPE) and developing neural retina.

  14. mTOR signaling and its roles in normal and abnormal brain development.

    PubMed

    Takei, Nobuyuki; Nawa, Hiroyuki

    2014-01-01

    Target of rapamycin (TOR) was first identified in yeast as a target molecule of rapamycin, an anti-fugal and immunosuppressant macrolide compound. In mammals, its orthologue is called mammalian TOR (mTOR). mTOR is a serine/threonine kinase that converges different extracellular stimuli, such as nutrients and growth factors, and diverges into several biochemical reactions, including translation, autophagy, transcription, and lipid synthesis among others. These biochemical reactions govern cell growth and cause cells to attain an anabolic state. Thus, the disruption of mTOR signaling is implicated in a wide array of diseases such as cancer, diabetes, and obesity. In the central nervous system, the mTOR signaling cascade is activated by nutrients, neurotrophic factors, and neurotransmitters that enhances protein (and possibly lipid) synthesis and suppresses autophagy. These processes contribute to normal neuronal growth by promoting their differentiation, neurite elongation and branching, and synaptic formation during development. Therefore, disruption of mTOR signaling may cause neuronal degeneration and abnormal neural development. While reduced mTOR signaling is associated with neurodegeneration, excess activation of mTOR signaling causes abnormal development of neurons and glia, leading to brain malformation. In this review, we first introduce the current state of molecular knowledge of mTOR complexes and signaling in general. We then describe mTOR activation in neurons, which leads to translational enhancement, and finally discuss the link between mTOR and normal/abnormal neuronal growth during development.

  15. Neurological examination: pioneering authors and their books.

    PubMed

    Maranhão-Filho, Péricles; Vincent, Maurice Borges; Silva, Marcos Martins da

    2015-02-01

    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.

  16. Early post-transplant hyperbilirubinemia is a possible predictive factor for developing neurological complications in pediatric living donor liver transplant patients receiving tacrolimus.

    PubMed

    Sato, Kazushige; Kobayashi, Yoshinobu; Nakamura, Atsushi; Fukushima, Daizo; Satomi, Susumu

    2017-03-01

    The cause of post-transplant CNI-NCs is multifactorial and not ascribed solely to CNI toxicity. A total of 90 children (aged <20 years) who underwent LDLT were evaluated to investigate the predictive factors associated with CNI-NCs. Twelve patients (13.3%) developed CNI-NCs after LDLT (age range, 2-15 years). The symptoms of CNI-NCs were seizures, VD, and stupor. The median onset of CNI-NCs was 10 days (range, 5-30 days) post-transplant. In the univariate analysis, higher recipient age at LDLT, donor age and recipient's BW, lower actual GV/SLV and TAC dosage/BW, and higher mean T-Bil and sodium level for 7 days after transplantation were independently significantly associated with TAC-NCs. Multivariate analysis showed that the T-Bil level in the first week after LDLT was the only significant independent predictive factor for TAC-NCs (HR, 1.588; 95% CI, 1.042-2.358; P=.031). In conclusion, CNI-NCs occurred most frequently in children over 5 years and were associated with hyperbilirubinemia for 7 days post-transplant, regardless of TAC levels. The transplant team should refer to a neurologist to define the diagnosis and to collaborate to resolve the neurological problems.

  17. Psychological and emotional development, intellectual capabilities, and body image in short normal children.

    PubMed

    Molinari, E; Sartori, A; Ceccarelli, A; Marchi, S

    2002-04-01

    It is well established that children with short stature frequently have problems in cognitive development, personality, self-esteem and social relations. This is partly due to the fact that many parents view them as more vulnerable than other children of normal stature and do not allow them to face the normal experiences that correspond to their actual age. The aim of the present study was to assess, through the administration of appropriate psychological tools, a series of psychological and cognitive characteristics [i.e. anxiety, depression, good adjustment, social functioning, feeling of guilt, interpersonal relationship, intelligence quotient (IQ)], as well as variables linked to development of body image, in a group of children suffering from normal growth variants [familial short stature (FSS), no. 10, 4 males/6 females; with constitutional growth delay (CGD), no. 4,4 males; height standard deviation score (HSDS) ranging between -2.4 and -1.9] and in a control group children of normal stature (HSDS between -0.1 and +0.1). Children with short stature significantly differed from normal statured controls as far as Colored Progressive Matrices (CPMs, centiles), IQ (IQ, obtained using the Goodenough test), "Good Adjustment" (Draw-a-Person index, DAP), "Feelings of Guilt" (DAP index), "Height" (as emerges from drawings of the body) are concerned. Significant relationships were found between the height of the subjects (in centiles) and cognitive skills, measured both using CPMs (r=0.408; p=0.017) and Draw-a-Man (DAM) (r=0.359; p=0.037) and between height and feelings of guilt (r=0.325; p=0.027), measured using DAP. CPM scores correlated positively with the "Good Adjustment" index of DAP (r=0.354; p=0.05) and negatively with Children's Depression Inventory (CDI) (r=-0.609; p=0.01), "School Anxiety" index (r=-0.427; p=0.05) and "Total Anxiety" index (r=-0.436; p=0.05) of the Anxiety Scale Questionnaire for the Age of Development, and with 2 indices of DAP, namely

  18. [Quantitative analysis method based on fractal theory for medical imaging of normal brain development in infants].

    PubMed

    Li, Heheng; Luo, Liangping; Huang, Li

    2011-02-01

    The present paper is aimed to study the fractal spectrum of the cerebral computerized tomography in 158 normal infants of different age groups, based on the calculation of chaotic theory. The distribution range of neonatal period was 1.88-1.90 (mean = 1.8913 +/- 0.0064); It reached a stable condition at the level of 1.89-1.90 during 1-12 months old (mean = 1.8927 +/- 0.0045); The normal range of 1-2 years old infants was 1.86-1.90 (mean = 1.8863 +/- 4 0.0085); It kept the invariance of the quantitative value among 1.88-1.91(mean = 1.8958 +/- 0.0083) during 2-3 years of age. ANOVA indicated there's no significant difference between boys and girls (F = 0.243, P > 0.05), but the difference of age groups was significant (F = 8.947, P < 0.001). The fractal dimension of cerebral computerized tomography in normal infants computed by box methods was maintained at an efficient stability from 1.86 to 1.91. It indicated that there exit some attractor modes in pediatric brain development.

  19. Wideband absorbance tympanometry using pressure sweeps: System development and results on adults with normal hearing

    PubMed Central

    Liu, Yi-Wen; Sanford, Chris A.; Ellison, John C.; Fitzpatrick, Denis F.; Gorga, Michael P.; Keefe, Douglas H.

    2008-01-01

    A system with potential for middle-ear screening and diagnostic testing was developed for the measurement of wideband energy absorbance (EA) in the ear canal as a function of air pressure, and tested on adults with normal hearing. Using a click stimulus, the EA was measured at 60 frequencies between 0.226 and 8 kHz. Ambient-pressure results were similar to past studies. To perform tympanometry, air pressure in the ear canal was controlled automatically to sweep between −300 and 200 daPa (ascending∕descending directions) using sweep speeds of approximately 75, 100, 200, and 400 daPa∕s. Thus, the measurement time for wideband tympanometry ranged from 1.5 to 7 s and was suitable for clinical applications. A bandpass tympanogram, calculated for each ear by frequency averaging EA from 0.38 to 2 kHz, had a single-peak shape; however, its tympanometric peak pressure (TPP) shifted as a function of sweep speed and direction. EA estimated at the TPP was similar across different sweep speeds, but was higher below 2 kHz than EA measured at ambient pressure. Future studies of EA on normal ears of a different age group or on impaired ears may be compared with the adult normal baseline obtained in this study. PMID:19206798

  20. Hypophosphatemia and neurological changes secondary to oral caloric intake: a variant of hyperalimentation syndrome.

    PubMed

    Silvis, S E; DiBartolomeo, A G; Aaker, H M

    1980-03-01

    Previous reports have described a syndrome of paresthesias, weakness, seizures and hypophosphatemia in patients and animals receiving intravenous hyperalimentation. In this report we describe a group of five patients who developed this syndrome while on oral caloric intake and three patients who received only modest amounts of hyperalimentation therapy. As an experimental corollary, studies were performed in starved and normal dogs with calories infused via an intragastric catheter. The serum inorganic phosphorus (Pi) fell slightly in normal animals from 4.8-2.5 mg. %. In the starved dogs with diarrhea or vomiting the Pi fell gradually from 4.8-1.6. In starved dogs without gastrointestinal symptoms the Pi fell precipitously from 3.7-1.4 mg % on the first day of infusion and remained at that level. Approximately 50% of the starved animals developed the neurological syndrome; none of the normal animals had neurological symptoms.

  1. Eye drop neurology.

    PubMed

    Bennetto, Luke; Guly, Catherine; Ormerod, Ian; Plant, Gordon T

    2014-06-01

    Eye drops can help to diagnose and prevent complications of neurological disorders. Guttae ophthalmicae (eye drops) are generally safe because the drugs rarely achieve significant systemic concentrations, although there are rare exceptions. This article covers contemporary pharmacological pupil testing; how to dilate a pupil safely; common reasons why pupils do not respond to drops; and corneal lubrication to prevent complications of weak eye closure.

  2. Neurology of cardiopulmonary resuscitation.

    PubMed

    Mulder, M; Geocadin, R G

    2017-01-01

    This chapter aims to provide an up-to-date review of the science and clinical practice pertaining to neurologic injury after successful cardiopulmonary resuscitation. The past two decades have seen a major shift in the science and practice of cardiopulmonary resuscitation, with a major emphasis on postresuscitation neurologic care. This chapter provides a nuanced and thoughtful historic and bench-to-bedside overview of the neurologic aspects of cardiopulmonary resuscitation. A particular emphasis is made on the anatomy and pathophysiology of hypoxic-ischemic encephalopathy, up-to-date management of survivors of cardiopulmonary resuscitation, and a careful discussion on neurologic outcome prediction. Guidance to practice evidence-based clinical care when able and thoughtful, pragmatic suggestions for care where evidence is lacking are also provided. This chapter serves as both a useful clinical guide and an updated, thorough, and state-of-the-art reference on the topic for advanced students and experienced practitioners in the field. © 2017 Elsevier B.V. All rights reserved.

  3. Kinematic differentiation of prosodic categories in normal and disordered language development.

    PubMed

    Goffman, Lisa

    2004-10-01

    Prosody is complex and hierarchically organized but is realized as rhythmic movement sequences. Thus, observations of the development of rhythmic aspects of movement can provide insight into links between motor and language processes, specifically whether prosodic distinctions (e.g., feet and prosodic words) are instantiated in rhythmic movement output. This experiment examined 4-7-year-old children's (both normally developing and specifically language impaired) and adults' productions of prosodic sequences that were controlled for phonetic content but differed in morphosyntactic structure (i.e., content vs. function words). Primary analyses included kinematic measures of rhythmic structure (i.e., amplitude and duration of movements in weak vs. strong syllables) across content and function contexts. Findings showed that at the level of articulatory movement, adults produced distinct rhythmic categories across content and function word contexts, whereas children did not. Children with specific language impairment differed from normally developing peers only in their ability to produce well-organized and stable rhythmic movements, not in the differentiation of prosodic categories.

  4. Mesenchymal Bone Morphogenetic Protein Signaling Is Required for Normal Pancreas Development

    PubMed Central

    Ahnfelt-Rønne, Jonas; Ravassard, Philippe; Pardanaud-Glavieux, Corinne; Scharfmann, Raphaél; Serup, Palle

    2010-01-01

    OBJECTIVE Pancreas organogenesis is orchestrated by interactions between the epithelium and the mesenchyme, but these interactions are not completely understood. Here we investigated a role for bone morphogenetic protein (BMP) signaling within the pancreas mesenchyme and found it to be required for the normal development of the mesenchyme as well as for the pancreatic epithelium. RESEARCH DESIGN AND METHODS We analyzed active BMP signaling by immunostaining for phospho-Smad1,5,8 and tested whether pancreas development was affected by BMP inhibition after expression of Noggin and dominant negative BMP receptors in chicken and mouse pancreas. RESULTS Endogenous BMP signaling is confined to the mesenchyme in the early pancreas and inhibition of BMP signaling results in severe pancreatic hypoplasia with reduced epithelial branching. Notably, we also observed an excessive endocrine differentiation when mesenchymal BMP signaling is blocked, presumably secondary to defective mesenchyme to epithelium signaling. CONCLUSIONS We conclude that BMP signaling plays a previously unsuspected role in the mesenchyme, required for normal development of the mesenchyme as well as for the epithelium. PMID:20522595

  5. IL-1RI participates in normal growth plate development and bone modeling.

    PubMed

    Simsa-Maziel, Stav; Zaretsky, Janna; Reich, Adi; Koren, Yoav; Shahar, Ron; Monsonego-Ornan, Efrat

    2013-07-01

    The proinflammatory cytokine interleukin-1 (IL-1) signals through IL-1 receptor type I (IL-1RI) and induces osteoclastogenesis and bone resorption mainly during pathological conditions. Little is known about the effect of excess or absence of IL-1 signaling on the physiological development of the growth plate and bone. In this study, we examine growth plate morphology, bone structure, and mechanical properties as well as osteoclast number in IL-1RI knockout mice to evaluate the role of IL-1RI in the normal development of the growth plate and bone. We show for the first time that IL-1RI knockout mice have narrower growth plates due to a smaller hypertrophic zone, suggesting a role for this cytokine in hypertrophic differentiation, together with higher proteoglycan content. The bones of theses mice exhibit higher trabecular and cortical mass, increased mineral density, and superior mechanical properties. In addition, IL-1RI knockout mice have significantly reduced osteoclast numbers in the chondro-osseous junction, trabecular bone, and cortical bone. These results suggest that IL-1RI is involved in normal growth plate development and ECM homeostasis and that it is significant in the physiological process of bone modeling.

  6. Role of programmed cell death in normal neuronal development and function.

    PubMed

    Buss, Robert R; Oppenheim, Ronald W

    2004-12-01

    The consequences of eliminating the process of programmed cell death during the development of the nervous system is examined by reviewing studies in the genetic model organisms Caenorhabditis elegans, Drosophila melanogaster, Danio rerio and Mus musculus, where mutations of cell death genes have eliminated or reduced programmed cell death in the nervous system. In many cases, genetic elimination of cell death leads to embryonic mortality or gross anatomical malformations; however, there are cases where animals develop normally but with excess neurons and glia in the nervous system. Undead cells either differentiate and function as working neurons, in some instances being of smaller size, or fail to differentiate and lack normal connections with their targets. Changes in motor control and sensory processing are generally not observed, except for during the most complex of behaviors. Examination of organisms where death genes have been genetically eliminated reveals that programmed cell death may play an important role in sculpting gross brain structure during early development of the neural tube. In contrast, the consequences of preventing neuronal cell death at later developmental stages (e.g. during vertebrate synapse formation) are just beginning to be understood.

  7. [Chromatin in diapause of the silkworm Bombyx mori L.: thermal parthenogenesis and normal development].

    PubMed

    Klimenko, V V; Khaoiuan', Lian

    2012-01-01

    Having used hematoxylin as a stain, some features of silkworm embryo chromatin in diapause have been studied in normal and parthenogenetic development. With found direct correlation between the number of interphase chromatin grains and the number of chromosomes in the nucleus, we examined cell polyploidization in the embryo at diapause stage. Polyploidization by parthenogenesis is not reducible to endomitotic doubling of the chromosome set because it comprises 6n-nuclei. Explanation of more diverse range of polyploid cells in parthenogenesis needs to consider the fusion of cleavage nuclei that is carried out by the cytoplasmic karyogamic mechanism in the absence of fertilization. For the first time on squash preparations, in diapausing embryo, we have identified primary germ cells (PGC) that are characterized by less compact chromatin, especially in the zygotic form of development, a larger size of the nucleus and cytoplasm, and irregular number and size of nucleoli. Evaluation of PGC ploidy in parthenogenesis by calculation of "loose" chromatin grains in diapause is possible and testifies polyploidization in embryo germ-line. This explains the inevitable admixture of tetraploid eggs in diploid parthenoclone grain and its absence in normal development. Cytological method used has revealed a spiral arrangement of chromatin grains on the inner surface of the nucleus at different levels of ploidy.

  8. Differential roles of ERα and ERβ in normal and neoplastic development in the mouse mammary gland.

    PubMed

    Mehta, Rajendra G; Hawthorne, Michael; Mehta, Rajeshwari R; Torres, Karen E O; Peng, Xinjian; McCormick, David L; Kopelovich, Levy

    2014-01-01

    The present experiments were performed to determine the roles of estrogen receptors α and β (ERα and ERβ) in normal and neoplastic development in the mouse mammary gland. In wild-type mice, in vivo administration of estradiol (E) + progesterone (P) stimulated mammary ductal growth and alveolar differentiation. Mammary glands from mice in which the ERβ gene has been deleted (βERKO mice) demonstrated normal ductal growth and differentiation in response to E + P. By contrast, mammary glands from mice in which the ERα gene has been deleted (αERKO mice) demonstrated only rudimentary ductal structures that did not differentiate in response to E + P. EGF demonstrates estrogen-like activity in the mammary glands of αERKO mice: treatment of αERKO mice with EGF + P (without E) supported normal mammary gland development, induced expression of progesterone receptor (PR), and increased levels of G-protein-coupled receptor (GPR30) protein. Mammary gland development in βERKO mice treated with EGF + P was comparable to that of wild-type mice receiving EGF + P; EGF had no statistically significant effects on the induction of PR or expression of GPR30 in mammary glands harvested from either wild-type mice or βERKO mice. In vitro exposure of mammary glands to 7,12-dimethylbenz[a]anthracene (DMBA) induced preneoplastic mammary alveolar lesions (MAL) in glands from wild-type mice and βERKO mice, but failed to induce MAL in mammary glands from αERKO mice. Microarray analysis of DMBA-treated mammary glands identified 28 functional pathways whose expression was significantly different in αERKO mice versus both βERKO and wild-type mice; key functions that were differentially expressed in αERKO mice included cell division, cell proliferation, and apoptosis. The data demonstrate distinct roles for ERα and ERβ in normal and neoplastic development in the mouse mammary gland, and suggest that EGF can mimic the ERα-mediated effects of E in this organ.

  9. Intraobserver reliability of static measures in the normally developing infant foot and clubfoot.

    PubMed

    Gelfer, Yael; Durham, Sally; Daly, Karen; Ewins, David

    2009-09-01

    Static measures data for infants are used in clinical practice and studies without published reliabilities. Intraobserver reliabilities for static measures were assessed in normally developing feet and clubfeet. Coefficient of repeatability was used for reliability. Variability in reliability was found. Ankle dorsiflexion, calf circumference and foot length were considered to be reliable in both groups. Foot width was considered unreliable and reliability for ankle plantarflexion knee flexed or extended does not seem to justify its use clinically. These results suggest that ankle dorsiflexion, calf circumference and foot length are reliable measures in infants and can be used for study conclusions and clinical decisions.

  10. Intrathecal migratory foreign body without neurological deficit after a gunshot wound.

    PubMed

    Ben-Galim, Peleg; Reitman, Charles A

    2008-01-01

    Penetrating bullets dissipate thermal and kinetic energy into surrounding tissues. Within the thecal sac, this is universally associated with neurological deficits. We report a case of intrathecal penetration of a bullet without neurological deficit. Case report. A 14-year-old girl was shot in the back, entering adjacent to the L3 vertebra and settling within the spinal canal adjacent to the S1 vertebra. In the absence of neurological deficits, initial management was nonoperative. Over the period of a week, the patient developed an episode of intense radicular pain, although her neurological examination remained normal. Location of the bullet was shown to vary from S1 to T12 on multiple imaging studies, and this was influenced by patient positioning. She subsequently underwent a bilateral hemilaminotomy and durotomy with excision of the intrathecal bullet. Patients can avoid neurological injury even with an intrathecal gunshot wound. However, intrathecal bullets may then migrate and cause variable neurological complaints, necessitating surgical removal. Patient positioning can influence bullet location which can be useful in surgical planning.

  11. Evidence for substantial maintenance of membrane integrity and cell viability in normally developing grape (Vitis vinifera L.) berries throughout development.

    PubMed

    Krasnow, Mark; Matthews, Mark; Shackel, Ken

    2008-01-01

    Fluorescein diacetate (FDA) was used as a vital stain to assay membrane integrity (cell viability) in mesocarp tissue of the developing grape (Vitis vinifera L.) berry in order to test the hypothesis that there is a substantial loss of compartmentation in these cells during ripening. This technique was also used to determine whether loss of viability was associated with symptoms of a ripening disorder known as berry shrivel. FDA fluorescence of berry cells was rapid, bright, and stable for over 1 h at room temperature. Confocal microscopy detected FDA staining through two to three intact surface cell layers (300-400 mum) of bisected berries, and showed that the fluorescence was confined to the cytoplasm, indicating the maintenance of integrity in both cytoplasmic as well as vacuolar membranes, and the presence of active cytoplasmic esterases. FDA clearly discriminated between living cells and freeze-killed cells, and exhibited little, if any, non-specific staining. Propidium iodide and DAPI, both widely used to assess cell viability, were unable to discriminate between living and freeze-killed cells, and did not specifically stain the nuclei of dead cells. For normally developing berries under field conditions there was no evidence of viability loss until about 40 d after veraison, and the majority (80%) of mesocarp cells remained viable past commercial harvest (26 degrees Brix). These results are inconsistent with current models of grape berry development which hypothesize that veraison is associated with a general loss of compartmentation in mesocarp cells. The observed viability loss was primarily in the locule area around the seeds, suggesting that a localized loss of viability and compartmentation may occur as part of normal fruit development. The cell viability of berry shrivel-affected berries was similar to that of normally developing berries until the onset of visible symptoms (i.e. shrivelling), at which time viability declined in visibly shrivelled

  12. Neurological diseases and pain

    PubMed Central

    2012-01-01

    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

  13. Neurology outside Paris following Charcot.

    PubMed

    Moulin, Thierry; Clarac, François; Petit, Henri; Broussolle, Emmanuel

    2011-01-01

    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.

  14. Belief term development in children with autism, Asperger syndrome, specific language impairment, and normal development: links to theory of mind development.

    PubMed

    Ziatas, K; Durkin, K; Pratt, C

    1998-07-01

    This study examined the relationship between the development of theory of mind and the development of the belief terms think, know, and guess. Children with autism and Asperger syndrome, matched to children with specific language impairment and normal development, completed false belief, belief term comprehension, and belief term expression tasks. The autistic group's performance on the false belief, belief term comprehension, and belief term expression tasks was significantly poorer than that of the Asperger, language impaired, and normal groups. Across groups an association was found between false belief and belief term performance. Results support a growing body of literature demonstrating links between the development of theory of mind and communicative competence.

  15. Development and Validation of the Procedure-Related Neurologic Complications Risk Score for Elderly Patients with Ruptured Intracranial Aneurysm Undergoing Endovascular Treatment.

    PubMed

    Duan, Guoli; Wen, Wanling; Zuo, Qiao; Yang, Pengfei; Zhang, Lei; Hong, Bo; Xu, Yi; Liu, Jianmin; Huang, Qinghai

    2017-04-01

    Our aim was to develop and validate a procedure-related neurologic complications (PNC) risk score for individual elderly patients with ruptured intracranial aneurysms undergoing endovascular treatment (EVT). Preoperatively collected data, including clinical, lesion, and procedure characteristics of consecutive elderly patients (≥60 years), were used to develop a PNC risk predictive score based on the coefficients (β) of a multivariable logistic regression analysis. The PNC included intraprocedural rupture, thromboembolic events, and rebleeding within 30 days after EVT. Overall, 520 elderly patients who underwent EVT were enrolled. At 30 days, the PNC rate was 13.08%. Six risk factors were independently associated with PNC and comprised the PNC score (PNC score, 0-16 points): hypertension (2 points), Hunt-Hess grade ≥4 (3 points), Fisher grade ≥3 (2 points), wide-necked aneurysm (2 points), with a bleb on the aneurysm sac (3 points), and aneurysm size (3-10 mm, 1 point; <3 mm, 4 points). The PNC score model predicted the risk of PNC at a sensitivity of 63.22% and specificity of 84.79%. Moreover, the PNC score demonstrated significant discrimination (area under curve, 0.799; P < 0.001) and calibration (Hosmer-Lemeshow test, P = 0.319). Excellent prediction, discrimination, and calibration properties were reproduced by the internal validation group with bootstrapping techniques. The PNC score can be an easily applicable tool for predicting the risk of PNC for individual elderly patients with ruptured intracranial aneurysms undergoing EVT. Our study provides large case-based evidence supporting the integration of individual clinical, lesion, and procedure characteristics to predict PNC risk. Copyright © 2017 Elsevier Inc. All rights reserved.

  16. Intentional communicative behaviours of Turkish-speaking children with normal and delayed language development.

    PubMed

    Topbaş, S; Maviş, I; Erbaş, D

    2003-09-01

    Language profiles may predict whether children with slower language development will catch up to their peers by overcoming this transient phenomenon or will be at risk for persistent language disorders. The research of the last decade has focused on this topic. Some researchers have emphasized the significance of developing communicative intentions, which provide a potential predictor of later language competence. In Turkey, children with slower language development may not be diagnosed partly because of the lack of sufficient standardized assessment/evaluation tools, educational and therapeutic media, and qualified speech-language therapists. In devising appropriate evaluation instruments, it is necessary to examine cross-linguistic variation in early language acquisition. The purpose of this study therefore is to observe, describe and assess early communicative behaviours of 15-36 months old Turkish-speaking children by using a functional communicative approach. The research was designed within a qualitative-descriptive paradigm, involving qualitative data collection, observation and data analysis procedures. A total of 16 children, eight typically developing and eight language delayed, served as subjects. The classification system used in this study for coding children's communicative intentions was mostly based upon a system used by Dore (1977). Each variable was referred to as one of three intentional categories: regulating behaviours (request for object, request for action and protest), social interaction (direct attention, greeting and acknowledgement) and joint attention (comment/statement, asking for information and responding). A non-parametric Mann-Whitney U-test was carried out to verify the descriptive measures in comparing the delayed and normal group performance. As expected, the mode of expressing communicative intentions varied as a function of age for both groups. Children with normal language development were observed to express intentions within

  17. Multiple roles of metalloproteinases in neurological disorders.

    PubMed

    Yang, Yi; Hill, Jeff W; Rosenberg, Gary A

    2011-01-01

    Once thought to mainly act in brain to remodel the extracellular matrix, the family of metalloproteinases is important in many normal and pathological processes in the nervous system. Matrix metalloproteinases (MMPs) and A disintegrin and metalloproteinases (ADAMs) are the two major families of metalloproteinases in the brain. MMPs are comprised of several related enzymes that act on extracellular molecules. Normally, they are important in angiogenesis and neurogenesis in development. In neuroinflammatory illnesses, they disrupt the basal lamina and tight junction proteins to open the blood-brain barrier (BBB). ADAMs are important in neuroinflammation through activation of tumor necrosis factor-α (TNF-α) and their action as secretases that modulate the action of receptors on the cell surface. Four tissue inhibitors of metalloproteinases (TIMPs) are the main inhibitors of the MMPs and ADAMs. Recently, MMPs were found to affect DNA repair processes by an unexpected intranuclear action. MMPs and ADAMs have been implicated in the pathophysiology of neurodegenerative diseases such as Alzheimer's disease and vascular cognitive impairment. Growing literature on the functions of MMPs and ADAMs in the central nervous system is opening up new and exciting areas of research that may lead to novel approaches to treatment of neurological diseases. Copyright © 2011 Elsevier Inc. All rights reserved.

  18. Control of Abnormal Synchronization in Neurological Disorders

    PubMed Central

    Popovych, Oleksandr V.; Tass, Peter A.

    2014-01-01

    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

  19. Some aspects of language development in normal-hearing children and children with cochlear implants.

    PubMed

    Szagun, G

    1997-11-01

    This article presents some important processes of normal child language acquisition and applies them to language acquisition data of children with cochlear implants. Modern studies of language acquisition, covering various languages, have demonstrated a close link between linguistic and cognitive development. Sensorimotor intelligence provides a construction of reality on which the first grammatical structures are built, encoding a number of relations which hold between objects, persons, events, and localizations. When acquiring the more complex morphological and syntactic aspects of their mother-tongue, children use a number of characteristic information processing strategies which make some formal markings easier to learn than others. There is considerable variability across children with respect to rate of acquisition, the use of imitation, and analytic versus holistic processing strategies. Caregivers' language input can facilitate language acquisition, notably the use of expansions and reformulations, and a generally accepting style. EMPIRICAL STUDY OF CHILDREN WITH COCHLEAR IMPLANTS: Language acquisition data from two children with cochlear implants show great differences with respect to rate of acquisition, construction of the German case system, and syntax. Whereas one child discovers the regularities of the case inflectional system quickly, the other child appears to prefer holistic and rote learning processes and uses a sequential strategy for combining words. It is suggested that variability between children with cochlear implants may be due to different frequencies of actually processed linguistic items. Future research should compare language development in children with cochlear implants and those with normal hearing making use of psycholinguistic methods of research design and analysis.

  20. Development of visuomotor behavior in normal and dark-reared cats.

    PubMed

    van Hof-Van Duin, J

    1976-03-12

    The development of visuomotor coordination in light-deprived cats was compared with that of newborn animals, raised under normal circumstances, using behavioral tests. Two groups of light-deprived cats were studied: one of which was dark-reared for 4 months, the other for 7 months. After dark-rearing the cats were kept in animal rooms which were illuminated for 12 h each day. All cats spent at least 4 h each day in a big playroom, where toys were available. Obstacle avoidance, tracking of moving objects, optokinetic nystagmus, visually triggered extension, visually guided placing, visual cliff behavior and jumping were tested. All light-deprived cats revealed a complete recovery of visuomotor behavior; the 7-months deprived cats recovered within 10 weeks and the 4-months deprived ones within 7 weeks. The time period in which the various responses in both groups of light-deprived cats developed after dark-rearing was found to be roughly in accordance with that of normally visually inexperienced kittens after birth.

  1. Neural correlates of deception in social contexts in normally developing children

    PubMed Central

    Yokota, Susumu; Taki, Yasuyuki; Hashizume, Hiroshi; Sassa, Yuko; Thyreau, Benjamin; Tanaka, Mari; Kawashima, Ryuta

    2013-01-01

    Deception is related to the ability to inhibit prepotent responses and to engage in mental tasks such as anticipating responses and inferring what another person knows, especially in social contexts. However, the neural correlates of deception processing, which requires mentalizing, remain unclear. Using functional magnetic resonance imaging (fMRI), we examined the neural correlates of deception, including mentalization, in social contexts in normally developing children. Healthy right-handed children (aged 8–9 years) were scanned while performing interactive games involving deception. The games varied along two dimensions: the type of reply (deception and truth) and the type of context (social and less social). Participants were instructed to deceive a witch and to tell the truth to a girl. Under the social-context conditions, participants were asked to consider what they inferred about protagonists' preferences from their facial expressions when responding to questions. Under the less-social-context conditions, participants did not need to consider others' preferences. We found a significantly greater response in the right precuneus under the social-context than under less-social-context conditions. Additionally, we found marginally greater activation in the right inferior parietal lobule (IPL) under the deception than under the truth condition. These results suggest that deception in a social context requires not only inhibition of prepotent responses but also engagement in mentalizing processes. This study provides the first evidence of the neural correlates of the mentalizing processes involved in deception in normally developing children. PMID:23730281

  2. Development of the mammillothalamic tract in normal and Pax-6 mutant mice.

    PubMed

    Valverde, F; García, C; López-Mascaraque, L; De Carlos, J A

    2000-04-17

    The mammillary bodies represent important relay stations for one of the major neuronal circuits in the brain: the limbic circuit. Mammillary projections traveling through the principal mammillary tract are established early during development, forming the mammillotegmental bundle, which appears fully developed by embryonic day 15 (E15). The mammillothalamic tract develops later, around E17-E18, forming a compact system of collateral fibers originating from the principal mammillary tract and reaching the thalamus by E20. The Pax-6 gene is expressed in various regions of the developing brain, among which the border separating the ventral thalamus from the dorsal thalamus, known as the zona limitans intrathalamica, is especially significant. In this report, the development of the efferent mammillary system of fibers was studied in wild type and Pax-6 mutant mice by using carbocyanine tracers and Golgi preparations. In mutant mice, the mammillotegmental bundle developed normally; however, the mammillothalamic tract was missing. By using anti-Pax-6 antibodies in wild type mice, the existence of an immunoreactive cell cluster is described surrounding the bifurcation point of the principal mammillary tract. The results of this study suggest that there is a correlation of these cells with a particular type of Golgi impregnated neuron.

  3. The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18.

    PubMed

    Gondré-Lewis, Marjorie C; Gboluaje, Temitayo; Reid, Shaina N; Lin, Stephen; Wang, Paul; Green, William; Diogo, Rui; Fidélia-Lambert, Marie N; Herman, Mary M

    2015-09-01

    The study of inborn genetic errors can lend insight into mechanisms of normal human development and congenital malformations. Here, we present the first detailed comparison of cranial and neuro pathology in two exceedingly rare human individuals with cyclopia and alobar holoprosencephaly (HPE) in the presence and absence of aberrant chromosome 18 (aCh18). The aCh18 fetus contained one normal Ch18 and one with a pseudo-isodicentric duplication of chromosome 18q and partial deletion of 18p from 18p11.31 where the HPE gene, TGIF, resides, to the p terminus. In addition to synophthalmia, the aCh18 cyclopic malformations included a failure of induction of most of the telencephalon - closely approximating anencephaly, unchecked development of brain stem structures, near absence of the sphenoid bone and a malformed neurocranium and viscerocranium that constitute the median face. Although there was complete erasure of the olfactory and superior nasal structures, rudiments of nasal structures derived from the maxillary bone were evident, but with absent pharyngeal structures. The second non-aCh18 cyclopic fetus was initially classified as a true Cyclops, as it appeared to have a proboscis and one median eye with a single iris, but further analysis revealed two eye globes as expected for synophthalmic cyclopia. Furthermore, the proboscis was associated with the medial ethmoid ridge, consistent with an incomplete induction of these nasal structures, even as the nasal septum and paranasal sinuses were apparently developed. An important conclusion of this study is that it is the brain that predicts the overall configuration of the face, due to its influence on the development of surrounding skeletal structures. The present data using a combination of macroscopic, computed tomography (CT) and magnetic resonance imaging (MRI) techniques provide an unparalleled analysis on the extent of the effects of median defects, and insight into normal development and patterning of the brain

  4. The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18

    PubMed Central

    Gondré-Lewis, Marjorie C.; Gboluaje, Temitayo; Reid, Shaina N.; Lin, Stephen; Wang, Paul; Green, William; Diogo, Rui; Fidélia-Lambert, Marie N.; Herman, Mary M.

    2016-01-01

    The study of inborn genetic errors can lend insight into mechanisms of normal human development and congenital malformations. Here, we present the first detailed comparison of cranial and neuro pathology in two exceedingly rare human individuals with cyclopia and alobar holoprosencephaly (HPE) in the presence and absence of aberrant chromosome 18 (aCh18). The aCh18 fetus contained one normal Ch18 and one with a pseudo-isodicentric duplication of chromosome 18q and partial deletion of 18p from 18p11.31 where the HPE gene, TGIF, resides, to the p terminus. In addition to synophthalmia, the aCh18 cyclopic malformations included a failure of induction of most of the telencephalon – closely approximating anencephaly, unchecked development of brain stem structures, near absence of the sphenoid bone and a malformed neurocranium and viscerocranium that constitute the median face. Although there was complete erasure of the olfactory and superior nasal structures, rudiments of nasal structures derived from the maxillary bone were evident, but with absent pharyngeal structures. The second non-aCh18 cyclopic fetus was initially classified as a true Cyclops, as it appeared to have a proboscis and one median eye with a single iris, but further analysis revealed two eye globes as expected for synophthalmic cyclopia. Furthermore, the proboscis was associated with the medial ethmoid ridge, consistent with an incomplete induction of these nasal structures, even as the nasal septum and paranasal sinuses were apparently developed. An important conclusion of this study is that it is the brain that predicts the overall configuration of the face, due to its influence on the development of surrounding skeletal structures. The present data using a combination of macroscopic, computed tomography (CT) and magnetic resonance imaging (MRI) techniques provide an unparalleled analysis on the extent of the effects of median defects, and insight into normal development and patterning of the

  5. Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?

    PubMed

    Prats Viñas, Jose Maria; Martinez Gonzalez, María Jesús; Garcia Ribes, Ainhoa; Martinez Gonzalez, Sonia; Martinez Fernandez, Ricardo

    2005-06-01

    Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are females with severe cognitive and physical disabilities. All of the cases reported in the literature have had early-onset seizures. Most cases of Aicardi syndrome exhibit very slow development, even when seizures are eventually controlled, and the cases with a relatively favourable outcome are associated with low intelligence quotient levels. A relationship between chorioretinal changes or severity of the agenesis of the corpus callosum and prognosis of Aicardi syndrome has been claimed, but few data are available about the clinical features that can predict clinical outcome. We describe a case of Aicardi syndrome in a female aged 24 months. Magnetic resonance imaging showed complete agenesis of the corpus callosum and ophthalmoscopy revealed chorioretinal lacunae in the left eye. She had never had seizures and her psychomotor and language development were normal for age.

  6. The Normal Psychological Development Of the American Adolescent—A Review

    PubMed Central

    Judd, Lewis L.

    1967-01-01

    Adolescence is a time of life marked by emotional turbulence and turmoil, which creates problems for the adolescent, his family and society in general. The psychological development that occurs during this period can be organized into developmental tasks, which emphasize the purposefulness of adolescence. An awareness of the nine essential tasks of development can serve as a basis for assessing the appropriateness and the developmental level of adolescent behavior. The establishment of a realistic self-concept (identity) is the most basic task of adolescence. Behavioral experimentation, the process through which much of the emotional growth of adolescence occurs, also accounts for the majority of the paradoxical and perplexing actions that typify the adolescent. To be in a better position to understand today's teenagers, the physician should not judge normality or abnormality by adult standards, but should view adolescence in reference to its own processes and purposes. PMID:6078890

  7. Astrocytes: The missing link in neurological disease?

    PubMed Central

    Lin, Chia-Ching John; Deneen, Benjamin

    2013-01-01

    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

  8. Nuclear Medicine Imaging in Pediatric Neurology

    PubMed Central

    Akdemir, Ümit Özgür; Atay Kapucu, Lütfiye Özlem

    2016-01-01

    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

  9. Ciliogenesis in normal human kidney development and post-natal life.

    PubMed

    Saraga-Babić, Mirna; Vukojević, Katarina; Bočina, Ivana; Drnašin, Kristina; Saraga, Marijan

    2012-01-01

    Ciliogenesis in developing and post-natal human kidneys appears to influence cell proliferation and differentiation, apico-basal cell polarity, and tubular lumen formation. We have analyzed the appearance of primary cilia and differentiation of kidney cells in ten human conceptuses aged 6-22 weeks and in one 5-year-old kidney, using a double immunofluorescence labeling technique for α-tubulin, γ-tubulin, Oct-4, and Ki-67 and by electron microscopy. Immature forms of nephrons and ampullae were characterized by intense cell proliferation, which subsequently decreased during development. Primary cilia appeared on the surfaces of non-proliferating cells in developing nephrons, gradually increasing in length from 0.59 μm in renal vesicles to 0.81 μm in the S-forms of nephrons, ultimately reaching 3.04 μm in length in mature fetal and post-natal nephrons. Ciliary length increased from 0.59 μm in ampullae to 1.28 μm in post-natal collecting tubules. Mesenchymal to epithelial transformation of kidney cells coincided with the appearance of apico-basal polarity, both gap and tight junctions, and lumen formation. Up-regulation of Oct-4 expression correlated with the onset of kidney cell differentiation. Our results demonstrate the importance of proper primary cilia lengthening and Oct-4 expression for the normal development of fetal and post-natal kidneys and of apico-basal polarity for normal tubular lumen formation. Disturbances in these processes are associated with ciliopathies.

  10. Program Director Survey: Attitudes Regarding Child Neurology Training and Testing.

    PubMed

    Valencia, Ignacio; Feist, Terri B; Gilbert, Donald L

    2016-04-01

    As a result of major clinical and scientific advances and changes in clinical practice, the role of adult neurology training for Child Neurology and Neurodevelopmental Disability (NDD) certification has become controversial. The most recently approved requirements for board eligibility for child neurology and neurodevelopmental disability residents still include 12 months in adult neurology rotations. The objective of this study was to assess United States child neurology and neurodevelopmental disability residency program directors' opinions regarding optimal residency training. The authors developed an 18-item questionnaire and contacted all 80 child neurology and neurodevelopmental disability program directors via e-mail, using SurveyMonkey. A total of 44 program directors responded (55%), representing programs that train 78 categorical and 94 total resident positions, approximately 70% of those filled in the match. Respondents identified multiple areas where child neurology residents need more training, including genetics and neuromuscular disease. A substantial majority (73%) believed child neurology and neurodevelopmental disability residents need less than 12 adult neurology training months; however, most (75%) also believed adult hospital service and man-power needs (55%) and finances (34%) would pose barriers to reducing adult neurology. Most (70%) believed reductions in adult neurology training should be program flexible. A majority believed the written initial certification examination should be modified with more child neurology and fewer basic neuroscience questions. Nearly all (91%) felt the views of child neurology and neurodevelopmental disability program directors are under-represented within the Accreditation Council for Graduate Medical Education Residency Review Committee. The requirement for 12 adult neurology months for Child Neurology and Neurodevelopmental Disability certification is not consistent with the views of the majority of program

  11. Arabidopsis light-dependent protochlorophyllide oxidoreductase A (PORA) is essential for normal plant growth and development.

    PubMed

    Paddock, Troy; Lima, Daniel; Mason, Mary E; Apel, Klaus; Armstrong, Gregory A

    2012-03-01

    During skotomorphogenesis in angiosperms, NADPH:protochlorophyllide oxidoreductase (POR) forms an aggregate of photolabile NADPH-POR-protochlorophyllide (Pchlide) ternary complexes localized to the prolamellar bodies within etioplasts. During photomorphogenesis, POR catalyzes the light-dependent reduction of Pchlide a to chlorophyllide (Chlide) a, which is subsequently converted to chlorophyll (Chl). In Arabidopsis there are three structurally related POR genes, denoted PORA, PORB and PORC. The PORA and PORB proteins accumulate during skotomorphogenesis. During illumination, PORA is only transiently expressed, whereas PORB and PORC persist and are responsible for bulk Chl synthesis throughout plant development. Here we have tested whether PORA is important for skotomorphogenesis by assisting in etioplast development, and normal photomorphogenic development. Using reverse genetic approaches, we have identified the porA-1 null mutant, which contains an insertion of the maize Dissociation transposable element in the PORA gene. Additionally, we have characterized PORA RNAi lines. The porA-1 and PORA RNAi lines display severe photoautotrophic growth defects, which can be partially rescued on sucrose-supplemented growth media. Elimination of PORA during skotomorphogenesis results in reductions in the volume and frequency of prolamellar bodies, and in photoactive Pchlide conversion. The porA-1 mutant characterization thus establishes a quantitative requirement for PORA in etioplast development by demonstrating significant membrane ultrastructural and biochemical defects, in addition to suggesting PORA-specific functions in photomorphogenesis and plant development.

  12. Imaging and examination strategies of normal male and female sex development and anatomy.

    PubMed

    Wünsch, Lutz; Schober, Justine M

    2007-09-01

    Over recent years a variety of new details on the developmental biology of sexual differentiation has been discovered. Moreover, important advances have been made in imaging and examination strategies for urogenital organs, and these have added new knowledge to our understanding of the 'normal' anatomy of the sexes. Both aspects contribute to the comprehension of phenotypic sex development, but they are not commonly presented in the same context. This will be attempted in this chapter, which aims to link discoveries in developmental biology to anatomical details shown by modern examination techniques. A review of the literature concerning the link between sexual development and imaging of urogenital organs was performed. Genes, proteins and pathways related to sexual differentiation were related to some organotypic features revealed by clinical examination techniques. Early 'organotypic' patterns can be identified in prostatic, urethral and genital development and followed into postnatal life. New imaging and endoscopy techniques allow for detailed descriptive anatomical studies, hopefully resulting in a broader understanding of sex development and a better genotype-phenotype correlation in defined disorders. Clinical description relying on imaging techniques should be related to knowledge of the genetic and endocrine factors influencing sex development in a specific and stepwise manner.

  13. The development of hepatic stellate cells in normal and abnormal human fetuses – an immunohistochemical study

    PubMed Central

    Loo, Christine K C; Pereira, Tamara N; Pozniak, Katarzyna N; Ramsing, Mette; Vogel, Ida; Ramm, Grant A

    2015-01-01

    The precise embryological origin and development of hepatic stellate cells is not established. Animal studies and observations on human fetuses suggest that they derive from posterior mesodermal cells that migrate via the septum transversum and developing diaphragm to form submesothelial cells beneath the liver capsule, which give rise to mesenchymal cells including hepatic stellate cells. However, it is unclear if these are similar to hepatic stellate cells in adults or if this is the only source of stellate cells. We have studied hepatic stellate cells by immunohistochemistry, in developing human liver from autopsies of fetuses with and without malformations and growth restriction, using cellular Retinol Binding Protein-1 (cRBP-1), Glial Fibrillary Acidic Protein (GFAP), and α-Smooth Muscle Actin (αSMA) antibodies, to identify factors that influence their development. We found that hepatic stellate cells expressing cRBP-1 are present from the end of the first trimester of gestation and reduce in density throughout gestation. They appear abnormally formed and variably reduced in number in fetuses with abnormal mesothelial Wilms Tumor 1 (WT1) function, diaphragmatic hernia and in ectopic liver nodules without mesothelium. Stellate cells showed similarities to intravascular cells and their presence in a fetus with diaphragm agenesis suggests they may be derived from circulating stem cells. Our observations suggest circulating stem cells as well as mesothelium can give rise to hepatic stellate cells, and that they require normal mesothelial function for their development. PMID:26265759

  14. Key sleep neurologic disorders

    PubMed Central

    St. Louis, Erik K.

    2014-01-01

    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

  15. Neurology and detective writing.

    PubMed

    Kempster, Peter A; Lees, Andrew J

    2013-12-01

    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.

  16. Neurology goes global

    PubMed Central

    Mateen, Farrah J.

    2014-01-01

    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

  17. Encephalocraniocutaneous lipomatosis: neurologic manifestations.

    PubMed

    Lasierra, Rafael; Valencia, Ignacio; Carapeto, Francisco J; Ventura, Purificación; Samper, M Pilar; Rodríguez, Gerardo; Pérez-González, José M; Legido, Agustín

    2003-10-01

    We report a new case of encephalocraniocutaneous lipomatosis, a rare neurocutaneous syndrome of unknown etiology with involvement of tissues arising from the mesoderm and ectoderm: skin, eye, adipose tissue, and brain. We also review the neurologic manifestations of the syndrome, the most frequent of which include seizures, ventricular enlargement, calcifications, mental retardation, and cerebellopontine angle tumor. Our patient had an extensive extradural spinal cord lipomatous lesion, emphasizing the importance of screening for spinal abnormalities in asymptomatic patients with this condition.

  18. Neurologic involvement in atypical hemolytic uremic syndrome and successful treatment with eculizumab.

    PubMed

    Gulleroglu, Kaan; Fidan, Kibriya; Hançer, Veysel S; Bayrakci, Umut; Baskin, Esra; Soylemezoglu, Oguz

    2013-05-01

    Atypical hemolytic uremic syndrome (aHUS) is associated with defective regulation of the complement pathway. Neurological involvement is the most common extrarenal complication and represents a major cause of mortality and morbidity. Two girls aged 11 and 6 years, respectively, developed aHUS and were treated immediately with plasma exchange (PE) and fresh frozen plasma infusion (PI). Although initial improvement in renal function was seen in both cases, the first patient showed progressing thrombotic microangiopathy (TMA) despite daily PE, and neurological manifestations (seizures, vision loss, loss of balance, and confusion) developed after 1 month. The second patient developed cerebral TMA (seizures, vision loss, and nystagmus) 6 days after initial presentation and remained unresponsive to PE/PI. Neurological symptoms were similar in both patients, even though they had different complement protein mutations. Treatment with eculizumab achieved complete control of neurological symptoms within 24 h and gradually normalized hematological and renal parameters in both children. Based on our two cases, we conclude that eculizumab is a rapid-acting, effective, and life-saving treatment for pediatric patients with aHUS and severe neurological involvement, which works by inhibiting complement-mediated TMA in the kidney and other organs, such as the brain.

  19. BMI Development of Normal Weight and Overweight Children in the PIAMA Study

    PubMed Central

    Willers, Saskia M.; Brunekreef, Bert; Smit, Henriëtte A.; van der Beek, Eline M.; Gehring, Ulrike; de Jongste, C.; Kerkhof, Marjan; Koppelman, Gerard H.; Wijga, Alet H.

    2012-01-01

    Background There is evidence that rapid weight gain during the first year of life is associated with overweight later in life. However, results from studies exploring other critical periods for the development of overweight are inconsistent. Objective The objective was to investigate BMI development to assess at what ages essential differences between normal weight and overweight children occur, and to assess which age intervals the most strongly influence the risk of overweight at 8 years of age. Methods Longitudinal weight and height data were collected by annual questionnaires in a population of 3963 children participating in the PIAMA birth cohort study. BMI and BMI standard deviation scores (SDS) were calculated for every year from birth until 8 years of age. BMI, BMI SDS and BMI SDS change in each 1-year-age interval were compared between children with and without overweight at 8 years of age, using t-tests, logistic regression analysis and the analysis of response profiles method. Results At 8 years of age, 10.5% of the children were overweight. Already at the age of 1 year, these children had a significantly higher mean BMI SDS than normal weight 8-year-olds, (0.53 vs 0.04). In each 1-year-age interval the change in BMI SDS was significantly associated with overweight at 8 years with odds ratios increasing from 1.14 (95% CI 1.04–1.24) per 1 SDS increase at 0–1 year to 2.40 (95% CI 2.09–2.76) at 7–8 years. Conclusion At every age, starting already in the first year of life, a rapid increase in BMI SDS was significantly associated with overweight risk at the age of 8 years. There was no evidence for a specific critical period for the development of overweight. Prevention of overweight should start early in life and be continued with age-specific interventions throughout childhood. PMID:22761811

  20. Normal T-cell development and immune functions in TRIM-deficient mice.

    PubMed

    Kölsch, Uwe; Arndt, Börge; Reinhold, Dirk; Lindquist, Jonathan A; Jüling, Nicole; Kliche, Stefanie; Pfeffer, Klaus; Bruyns, Eddy; Schraven, Burkhart; Simeoni, Luca

    2006-05-01

    The transmembrane adaptor molecule TRIM is strongly expressed within thymus and in peripheral CD4(+) T cells. Previous studies suggested that TRIM is an integral component of the T-cell receptor (TCR)/CD3 complex and might be involved in regulating TCR cycling. To elucidate the in vivo function of TRIM, we generated TRIM-deficient mice by homologous recombination. TRIM(-/-) mice develop normally and are healthy and fertile. However, the animals show a mild reduction in body weight that appears to be due to a decrease in the size and/or cellularity of many organs. The morphology and anatomy of nonlymphoid as well as primary and secondary lymphoid organs is normal. The frequency of thymocyte and peripheral T-cell subsets does not differ from control littermates. In addition, a detailed analysis of lymphocyte development revealed that TRIM is not required for either positive or negative selection. Although TRIM(-/-) CD4(+) T cells showed an augmented phosphorylation of the serine/threonine kinase Akt, the in vitro characterization of peripheral T cells indicated that proliferation, survival, activation-induced cell death, migration, adhesion, TCR internalization and recycling, TCR-mediated calcium fluxes, tyrosine phosphorylation, and mitogen-activated protein family kinase activation are not affected in the absence of TRIM. Similarly, the in vivo immune response to T-dependent and T-independent antigens as well as the clinical course of experimental autoimmune encephalomyelitis, a complex Th1-mediated autoimmune model, is comparable to that of wild-type animals. Collectively, these results demonstrate that TRIM is dispensable for T-cell development and peripheral immune functions. The lack of an evident phenotype could indicate that TRIM shares redundant functions with other transmembrane adaptors involved in regulating the immune response.

  1. Effect of transforming growth factor-beta1 on embryonic and posthatch muscle growth and development in normal and low score normal chicken.

    PubMed

    Li, X; Velleman, S G

    2009-02-01

    During skeletal muscle development, transforming growth factor-beta1 (TGF-beta1) is a potent inhibitor of muscle cell proliferation and differentiation. The TGF-beta1 signal is carried by Smad proteins into the cell nucleus, inhibiting the expression of key myogenic regulatory factors including MyoD and myogenin. However, the molecular mechanism by which TGF-beta1 inhibits muscle cell proliferation and differentiation has not been well documented in vivo. The present study investigated the effect of TGF-beta1 on in vivo skeletal muscle growth and development. A chicken line, Low Score Normal (LSN) with reduced muscling and upregulated TGF-beta1 expression, was used and compared to a normal chicken line. The injection of TGF-beta1 at embryonic day (ED) 3 significantly reduced the pectoralis major (p. major) muscle weight in the normal birds at 1 wk posthatch, whereas no significant difference was observed in the LSN birds. The difference between normal and LSN birds in response to TGF-beta1 is likely due to different levels of endogenous TGF-beta1 where the LSN birds have increased TGF-beta1 expression in their p. major muscle at both 17 ED and 6 wk posthatch. Smad3 expression was reduced by TGF-beta1 from 10 ED to 1 wk posthatch in normal p. major muscle. Unlike Smad3, Smad7 expression was not significantly affected by TGF-beta1 until posthatch in both normal and LSN p. major muscle. Expression of MyoD was reduced 35% by TGF-beta1 during embryonic development in normal p. major muscle, whereas LSN p. major muscle showed a delayed decrease at 1 d posthatch in MyoD expression in response to the TGF-beta1 treatment. Myogenin expression was reduced 29% by TGF-beta1 after hatch in normal p. major muscle. In LSN p. major muscle, TGF-beta1 treatment significantly decreased myogenin expression by 43% at 1 d posthatch and 32% at 1 wk posthatch. These data suggested that TGF-beta1 reduced p. major muscle growth by inhibiting MyoD and myogenin expression during both embryonic

  2. Neurological disorders and travel.

    PubMed

    Awada, Adnan; Kojan, Suleiman

    2003-02-01

    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.

  3. Palliative care and neurology

    PubMed Central

    Boersma, Isabel; Miyasaki, Janis; Kutner, Jean

    2014-01-01

    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

  4. Recovery and neurological evaluation.

    PubMed

    Fàbregas, Neus; Bruder, Nicolas

    2007-12-01

    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.

  5. Alix is required during development for normal growth of the mouse brain

    PubMed Central

    Laporte, Marine H.; Chatellard, Christine; Vauchez, Victoria; Hemming, Fiona J.; Deloulme, Jean-Christophe; Vossier, Frédérique; Blot, Béatrice; Fraboulet, Sandrine; Sadoul, Rémy

    2017-01-01

    Alix (ALG-2 interacting protein X) drives deformation and fission of endosomal and cell surface membranes and thereby intervenes in diverse biological processes including cell proliferation and apoptosis. Using embryonic fibroblasts of Alix knock-out mice, we recently demonstrated that Alix is required for clathrin-independent endocytosis. Here we show that mice lacking Alix suffer from severe reduction in the volume of the brain which affects equally all regions examined. The cerebral cortex of adult animals shows normal layering but is reduced in both medio-lateral length and thickness. Alix controls brain size by regulating its expansion during two distinct developmental stages. Indeed, embryonic surface expansion of the Alix ko cortex is reduced because of the loss of neural progenitors during a transient phase of apoptosis occurring between E11.5 and E12.5. Subsequent development of the Alix ko cortex occurs normally until birth, when Alix is again required for the post-natal radial expansion of the cortex through its capacity to allow proper neurite outgrowth. The need of Alix for both survival of neural progenitor cells and neurite outgrowth is correlated with its role in clathrin-independent endocytosis in neural progenitors and at growth cones. Thus Alix-dependent, clathrin independent endocytosis is essential for controlling brain size. PMID:28322231

  6. Evaluation of Appropriate Reference Genes for Gene Expression Normalization during Watermelon Fruit Development

    PubMed Central

    Kong, Qiusheng; Yuan, Jingxian; Gao, Lingyun; Zhao, Liqiang; Cheng, Fei; Huang, Yuan; Bie, Zhilong

    2015-01-01

    Gene expression analysis in watermelon (Citrullus lanatus) fruit has drawn considerable attention with the availability of genome sequences to understand the regulatory mechanism of fruit development and to improve its quality. Real-time quantitative reverse-transcription PCR (qRT-PCR) is a routine technique for gene expression analysis. However, appropriate reference genes for transcript normalization in watermelon fruits have not been well characterized. The aim of this study was to evaluate the appropriateness of 12 genes for their potential use as reference genes in watermelon fruits. Expression variations of these genes were measured in 48 samples obtained from 12 successive developmental stages of parthenocarpic and fertilized fruits of two watermelon genotypes by using qRT-PCR analysis. Considering the effects of genotype, fruit setting method, and developmental stage, geNorm determined clathrin adaptor complex subunit (ClCAC), β-actin (ClACT), and alpha tubulin 5 (ClTUA5) as the multiple reference genes in watermelon fruit. Furthermore, ClCAC alone or together with SAND family protein (ClSAND) was ranked as the single or two best reference genes by NormFinder. By using the top-ranked reference genes to normalize the transcript abundance of phytoene synthase (ClPSY1), a good correlation between lycopene accumulation and ClPSY1 expression pattern was observed in ripening watermelon fruit. These validated reference genes will facilitate the accurate measurement of gene expression in the studies on watermelon fruit biology. PMID:26110539

  7. Evaluation of Appropriate Reference Genes for Gene Expression Normalization during Watermelon Fruit Development.

    PubMed

    Kong, Qiusheng; Yuan, Jingxian; Gao, Lingyun; Zhao, Liqiang; Cheng, Fei; Huang, Yuan; Bie, Zhilong

    2015-01-01

    Gene expression analysis in watermelon (Citrullus lanatus) fruit has drawn considerable attention with the availability of genome sequences to understand the regulatory mechanism of fruit development and to improve its quality. Real-time quantitative reverse-transcription PCR (qRT-PCR) is a routine technique for gene expression analysis. However, appropriate reference genes for transcript normalization in watermelon fruits have not been well characterized. The aim of this study was to evaluate the appropriateness of 12 genes for their potential use as reference genes in watermelon fruits. Expression variations of these genes were measured in 48 samples obtained from 12 successive developmental stages of parthenocarpic and fertilized fruits of two watermelon genotypes by using qRT-PCR analysis. Considering the effects of genotype, fruit setting method, and developmental stage, geNorm determined clathrin adaptor complex subunit (ClCAC), β-actin (ClACT), and alpha tubulin 5 (ClTUA5) as the multiple reference genes in watermelon fruit. Furthermore, ClCAC alone or together with SAND family protein (ClSAND) was ranked as the single or two best reference genes by NormFinder. By using the top-ranked reference genes to normalize the transcript abundance of phytoene synthase (ClPSY1), a good correlation between lycopene accumulation and ClPSY1 expression pattern was observed in ripening watermelon fruit. These validated reference genes will facilitate the accurate measurement of gene expression in the studies on watermelon fruit biology.

  8. Survival of motor neurone protein is required for normal postnatal development of the spleen.

    PubMed

    Thomson, Alison K; Somers, Eilidh; Powis, Rachael A; Shorrock, Hannah K; Murphy, Kelley; Swoboda, Kathryn J; Gillingwater, Thomas H; Parson, Simon H

    2017-02-01

    Spinal muscular atrophy (SMA), traditionally described as a predominantly childhood form of motor neurone disease, is the leading genetic cause of infant mortality. Although motor neurones are undoubtedly the primary affected cell type, the severe infantile form of SMA (Type I SMA) is now widely recognised to represent a multisystem disorder where a variety of organs and systems in the body are also affected. Here, we report that the spleen is disproportionately small in the 'Taiwanese' murine model of severe SMA (Smn(-/-) ;SMN2(tg/0) ), correlated to low levels of cell proliferation and increased cell death. Spleen lacks its distinctive red appearance and presents with a degenerated capsule and a disorganised fibrotic architecture. Histologically distinct white pulp failed to form and this was reflected in an almost complete absence of B lymphocytes necessary for normal immune function. In addition, megakaryoctyes persisted in the red pulp. However, the vascular density remained unchanged in SMA spleen. Assessment of the spleen in SMA patients with the infantile form of the disease indicated a range of pathologies. We conclude that development of the spleen fails to occur normally in SMA mouse models and human patients. Thus, further analysis of immune function is likely to be required to fully understand the full extent of systemic disease pathology in SMA.

  9. Development of temporal and distance parameters of gait in normal children.

    PubMed

    Hillman, Susan J; Stansfield, Benedict W; Richardson, Alison M; Robb, James E

    2009-01-01

    Temporal and distance parameters of 33 normal children were obtained from instrumented gait analysis prospectively over five consecutive years. The parameters were normalised to minimise the confounding effects of increasing height and leg length. Rank correlations were performed on normalised speed, normalised stride length, normalised cadence and normalised walk ratio across consecutive pairs of years to examine the ranking of these parameters for an individual child over time. Consistent trends of increasing rank correlation were observed in normalised stride length and normalised walk ratio suggesting that individual children were continuing to adjust these gait parameters towards their own characteristic position within the normal range. Consistent trends were not observed in the rank correlations for normalised speed and normalised cadence. These findings support the concept that individual children predominantly adjusted their cadence to effect changes in speed, while the development of stride length was dictated by other factors specific to the individual child. Rank correlation coefficients for walk ratio between consecutive years increased from the ages of 7-11 years of age and hence walk ratio appears be a feature of gait that matures beyond the age of 7 years. This accords with the proposal that it is an invariant parameter for an individual.

  10. Development of a new autofluorescence probe for the analysis of normal and tumour brain tissues

    NASA Astrophysics Data System (ADS)

    Siebert, R.; Vu Thi, M. H.; Jean, F.; Charon, Y.; Collado-Hilly, M.; Duval, M. A.; Mandat, T.; Menard, L.; Palfi, S.; Tordjmann, T.

    2008-04-01

    Fluorescence spectroscopy of endogenous emission of brain tumors, in particular glioblastoma multiforme, will be used for intraoperative localization of brain tumor margins. Our future surgeon's probe aims to discriminate tumor from normal brain tissues using beta and autofluorescence detection at the same time. Within this study we have implemented C6 glioma cells into rat brains to analyze the endogenous fluorescence of tumor and normal rat brain tissue. Systematic differences have been observed when comparing the autofluorescence spectra obtained from white and grey matters: both the fluorescence intensity and the shape of the spectra differ. These results were obtained by means of a 2-fiber probe, one used to guide the laser to the tissue, the other for fluorescence light collection. Excitation light was delivered by a 405 nm picosecond laser and fluorescence detection was realized by a CCD-camera. In parallel we have developed brain phantoms allowing systematic analysis of fiber - sample geometries. Based on gelatin gels, they include silica particles with 235 and 329 nm diameters to simulate the diffusion characteristics of the tissue, ink for the absorption characteristics of the tissue and organic dyes like Rhodamin B to replace biofluorophores.

  11. Protein serine/threonine phosphotase-1 is essential in governing normal development of vertebrate eye.

    PubMed

    Liu, W-B; Yan, Q; Liu, F-Y; Tang, X-C; Chen, H-G; Liu, J; Nie, L; Zhang, X-W; Ji, W-K; Hu, X-H; Hu, W-F; Woodward, Z; Wu, K-L; Wu, M-X; Liu, X-L; Luo, L-X; Yu, M-B; Liu, Y-Z; Liu, S-J; Li, D W-C

    2012-12-01

    Protein serine/threonine phosphatase-1 (PP-1) is one of the key enzymes responsible for dephosphorylation in vertebrates. Protein dephosphorylation via PP-1 is implicated in many different biological processes including gene expression, cell cycle control, transformation, neuronal transmission, apoptosis, autophage and senescence. However, whether PP-1 directly controls animal development remains to be investigated. Here, we present direct evidence to show that PP-1 plays an essential role in regulating eye development of vertebrates. Using goldfish as a model system, we have shown the following novel results. First, inhibition of PP-1 activity leads to death of a majority of the treated embryos, and the survived embryos displayed severe phenotype in the eye. Second, knockdown of each catalytic subunit of PP-1 with morpholino oligomers leads to partial (PP-lα knockdown) or complete (PP-lβ or PP-lγ knockdown) death of the injected embryos. The survived embryos from PP-1α knockdown displayed clear retardation in lens differentiation. Finally, overexpression of each subunit of PP-1 also causes death of majority of the injected embryos and leads to abnormal development of goldfish eye. Mechanistically, Pax-6 is one of the major downstream targets mediating the effects of PP-1 function since the eye phenotype in Pax-6 knockdown fish is similar to that derived from overexpression of PP-1. Together, our results for the first time provide direct evidence that protein phosphatase-1 plays a key role in governing normal eye formation during goldfish development.

  12. Combined soft and skeletal tissue modelling of normal and dysmorphic midface postnatal development.

    PubMed

    Ibrahim, Amel; Suttie, Michael; Bulstrode, Neil W; Britto, Jonathan A; Dunaway, David; Hammond, Peter; Ferretti, Patrizia

    2016-11-01

    Midface hypoplasia as exemplified by Treacher Collins Syndrome (TCS) can impair appearance and function. Reconstruction involves multiple invasive surgeries with variable long-term outcomes. This study aims to describe normal and dysmorphic midface postnatal development through combined modelling of skeletal and soft tissues and to develop a surgical evaluation tool. Midface skeletal and soft tissue surfaces were extracted from computed tomography scans of 52 control and 14 TCS children, then analysed using dense surface modelling. The model was used to describe midface growth, morphology, and asymmetry, then evaluate postoperative outcomes. Parameters responsible for the greatest variation in midface size and shape showed differences between TCS and controls with close alignment between skeletal and soft tissue models. TCS children exhibited midface dysmorphology and hypoplasia when compared with controls. Asymmetry was also significantly higher in TCS midfaces. Combined modelling was used to evaluate the impact of surgery in one TCS individual who showed normalisation immediately after surgery but reversion towards TCS dysmorphology after 1 year. This is the first quantitative analysis of postnatal midface development using combined modelling of skeletal and soft tissues. We also provide an approach for evaluation of surgical outcomes, laying the foundations for future development of a preoperative planning tool. Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  13. Reduced blood flow in normal white matter predicts development of leukoaraiosis

    PubMed Central

    Bernbaum, Manya; Menon, Bijoy K; Fick, Gordon; Smith, Eric E; Goyal, Mayank; Frayne, Richard; Coutts, Shelagh B

    2015-01-01

    The purpose of this study was to investigate whether low cerebral blood flow (CBF) is associated with subsequent development of white matter hyperintensities (WMH). Patients were included from a longitudinal magnetic resonance (MR) imaging study of minor stroke/transient ischemic attack patients. Images were co-registered and new WMH at 18 months were identified by comparing follow-up imaging with baseline fluid-attenuated inversion recovery (FLAIR). Regions-of-interest (ROIs) were placed on FLAIR images in one of three categories: (1) WMH seen at both baseline and follow-up imaging, (2) new WMH seen only on follow-up imaging, and (3) regions of normal-appearing white matter at both time points. Registered CBF maps at baseline were used to measure CBF in the ROIs. A multivariable model was developed using mixed-effects logistic regression to determine the effect of baseline CBF on the development on new WMH. Forty patients were included. Mean age was 61±11 years, 30% were female. Low baseline CBF, female sex, and presence of diabetes were independently associated with the presence of new WMH on follow-up imaging. The odds of having new WMH on follow-up imaging reduces by 0.61 (95% confidence interval=0.57 to 0.65) for each 1 mL/100 g per minute increase in baseline CBF. We conclude that regions of white matter with low CBF develop new WMH on follow-up imaging. PMID:25966951

  14. Long-term influence of normal variation in neonatal characteristics on human brain development

    PubMed Central

    Walhovd, Kristine B.; Fjell, Anders M.; Brown, Timothy T.; Kuperman, Joshua M.; Chung, Yoonho; Hagler, Donald J.; Roddey, J. Cooper; Erhart, Matthew; McCabe, Connor; Akshoomoff, Natacha; Amaral, David G.; Bloss, Cinnamon S.; Libiger, Ondrej; Schork, Nicholas J.; Darst, Burcu F.; Casey, B. J.; Chang, Linda; Ernst, Thomas M.; Frazier, Jean; Gruen, Jeffrey R.; Kaufmann, Walter E.; Murray, Sarah S.; van Zijl, Peter; Mostofsky, Stewart; Dale, Anders M.; Jernigan, Terry L.; McCabe, Connor; Chang, Linda; Akshoomoff, Natacha; Newman, Erik; Dale, Anders M.; Ernst, Thomas; Dale, Anders M.; Van Zijl, Peter; Kuperman, Joshua; Murray, Sarah; Bloss, Cinnamon; Schork, Nicholas J.; Appelbaum, Mark; Gamst, Anthony; Thompson, Wesley; Bartsch, Hauke; Jernigan, Terry L.; Dale, Anders M.; Akshoomoff, Natacha; Chang, Linda; Ernst, Thomas; Keating, Brian; Amaral, David; Sowell, Elizabeth; Kaufmann, Walter; Van Zijl, Peter; Mostofsky, Stewart; Casey, B.J.; Ruberry, Erika J.; Powers, Alisa; Rosen, Bruce; Kenet, Tal; Frazier, Jean; Kennedy, David; Gruen, Jeffrey

    2012-01-01

    It is now recognized that a number of cognitive, behavioral, and mental health outcomes across the lifespan can be traced to fetal development. Although the direct mediation is unknown, the substantial variance in fetal growth, most commonly indexed by birth weight, may affect lifespan brain development. We investigated effects of normal variance in birth weight on MRI-derived measures of brain development in 628 healthy children, adolescents, and young adults in the large-scale multicenter Pediatric Imaging, Neurocognition, and Genetics study. This heterogeneous sample was recruited through geographically dispersed sites in the United States. The influence of birth weight on cortical thickness, surface area, and striatal and total brain volumes was investigated, controlling for variance in age, sex, household income, and genetic ancestry factors. Birth weight was found to exert robust positive effects on regional cortical surface area in multiple regions as well as total brain and caudate volumes. These effects were continuous across birth weight ranges and ages and were not confined to subsets of the sample. The findings show that (i) aspects of later child and adolescent brain development are influenced at birth and (ii) relatively small differences in birth weight across groups and conditions typically compared in neuropsychiatric research (e.g., Attention Deficit Hyperactivity Disorder, schizophrenia, and personality disorders) may influence group differences observed in brain parameters of interest at a later stage in life. These findings should serve to increase our attention to early influences. PMID:23169628

  15. Early postnatal exposure to endosulfan interferes with the normal development of the male rat mammary gland.

    PubMed

    Altamirano, Gabriela A; Delconte, Melisa B; Gomez, Ayelen L; Alarcón, Ramiro; Bosquiazzo, Verónica L; Luque, Enrique H; Muñoz-de-Toro, Mónica; Kass, Laura

    2017-09-19

    Our aim was to evaluate whether postnatal exposure to endosulfan (ENDO) modifies mammary gland (MG) development in pre- and post-pubertal male rats. From postnatal day 1 (PND1) to PND7, male rats were injected subcutaneously every 48h with either corn oil (vehicle) or 600μg ENDO/kg.bw. On PND21 and PND60, MG and blood samples were collected. Estradiol (E2) and testosterone (T) serum levels, MG histology, collagen fiber organization, proliferation index, and estrogen (ESR1) and androgen receptor (AR) expressions were evaluated. On PND21, E2 and T levels were similar between groups, whereas MG area, perimeter, number of terminal end buds and ESR1 expression were increased in ENDO-exposed rats. These changes were associated with alveolar development and increased organized collagen in the stroma. On PND60, a higher proliferation index in ENDO-exposed rats was correlated with a more developed lobuloalveolar structure. Hyperplastic alveoli and, hyperplastic ducts surrounded by a dense stroma were also observed in this group. T levels and ESR1 expression were similar between groups, whereas E2 levels and AR expression were decreased in ENDO-exposed rats. The exposure to ENDO in the first week of life interferes with the normal development of the MG and induces pre-malignant lesions in post-pubertal male rats. Copyright © 2017 Elsevier B.V. All rights reserved.

  16. Cdc42 and sec10 Are Required for Normal Retinal Development in Zebrafish.

    PubMed

    Choi, Soo Young; Baek, Jeong-In; Zuo, Xiaofeng; Kim, Seok-Hyung; Dunaief, Joshua L; Lipschutz, Joshua H

    2015-05-01

    To characterize the function and mechanisms of cdc42 and sec10 in eye development in zebrafish. Knockdown of zebrafish cdc42 and sec10 was carried out using antisense morpholino injection. The phenotype of morphants was characterized by histology, immunohistology, and transmission electron microscopy (TEM). To investigate a synergistic genetic interaction between cdc42 and sec10, we titrated suboptimal doses of cdc42 and sec10 morpholinos, and coinjected both morpholinos. To study trafficking, a melanosome transport assay was performed using epinephrine. Cdc42 and sec10 knockdown in zebrafish resulted in both abnormal eye development and increased retinal cell death. Cdc42 morphants had a relatively normal retinal structure, aside from the absence of most connecting cilia and outer segments, whereas in sec10 morphants, much of the outer nuclear layer, which is composed of the photoreceptor nuclei, was missing and RPE cell thickness was markedly irregular. Knockdown of cdc42 and sec10 also resulted in an intracellular transport defect affecting retrograde melanosome transport. Furthermore, there was a synergistic genetic interaction between zebrafish cdc42 and sec10, suggesting that cdc42 and sec10 act in the same pathway in retinal development. We propose a model whereby sec10 and cdc42 play a central role in development of the outer segment of the retinal photoreceptor cell by trafficking proteins necessary for ciliogenesis.

  17. Cdc42 and sec10 Are Required for Normal Retinal Development in Zebrafish

    PubMed Central

    Choi, Soo Young; Baek, Jeong-In; Zuo, Xiaofeng; Kim, Seok-Hyung; Dunaief, Joshua L.; Lipschutz, Joshua H.

    2015-01-01

    Purpose. To characterize the function and mechanisms of cdc42 and sec10 in eye development in zebrafish. Methods. Knockdown of zebrafish cdc42 and sec10 was carried out using antisense morpholino injection. The phenotype of morphants was characterized by histology, immunohistology, and transmission electron microscopy (TEM). To investigate a synergistic genetic interaction between cdc42 and sec10, we titrated suboptimal doses of cdc42 and sec10 morpholinos, and coinjected both morpholinos. To study trafficking, a melanosome transport assay was performed using epinephrine. Results. Cdc42 and sec10 knockdown in zebrafish resulted in both abnormal eye development and increased retinal cell death. Cdc42 morphants had a relatively normal retinal structure, aside from the absence of most connecting cilia and outer segments, whereas in sec10 morphants, much of the outer nuclear layer, which is composed of the photoreceptor nuclei, was missing and RPE cell thickness was markedly irregular. Knockdown of cdc42 and sec10 also resulted in an intracellular transport defect affecting retrograde melanosome transport. Furthermore, there was a synergistic genetic interaction between zebrafish cdc42 and sec10, suggesting that cdc42 and sec10 act in the same pathway in retinal development. Conclusions. We propose a model whereby sec10 and cdc42 play a central role in development of the outer segment of the retinal photoreceptor cell by trafficking proteins necessary for ciliogenesis. PMID:26024121

  18. Development and performance of grazing and normal incidence collectors for the HVM DPP and LPP sources

    NASA Astrophysics Data System (ADS)

    Bianucci, G.; Bragheri, A.; Cassol, G. L.; Johnson, B.; Rossi, M.; Zocchi, F. E.

    2010-04-01

    Media Lario Technologies (MLT), leveraging off its unique in-field collector experience, has designed the Grazing Incidence Collector (GIC) for the Sn-fueled Discharge Produced Plasma (DPP) source developed by Philips Extreme UV (PEUV) and XTREME technologies (XT) for High Volume Manufacturing (HVM) deployment. The performance of the HVM GIC described in this work shows a point-source collection efficiency of 24%, and is enabled by an integrated thermal control system designed to ensure optical stability for an absorbed thermal load of 6 kW. The GIC reflective layer has been custom tailored to match the debris mitigation strategy developed and characterized by PEUV and XT, supporting at least a 1-year lifetime proposition of the source-collector module. Leveraging off the experience gained in GIC, MLT is developing the processes to manufacture the Normal Incidence Collector (NIC) for Laser Produced Plasma (LPP) sources. Using its proprietary disruptive replication technology by electroforming, MLT is developing thermal management designs for NIC enabling stable operation at room temperature. This work reports on the performance of (symbol) 150 mm thermally managed NIC demonstrators. The mirror substrates have been integrated with new proprietary thermal management designs that are well suited to the electroformed mirrors. We also report on the reflectivity of the Mo/Si multilayer coated mirror, achieving maximum reflectivity values of 62% and a center wavelength (FWHM) of 13.52 nm, which demonstrates acceptable performance in an LPP NIC application.

  19. Improving Symptom Control, QOL, and Quality of Care for Women with Breast Cancer: Developing a Research Program on Neurological Effects via Doctoral Education

    DTIC Science & Technology

    2005-05-01

    Diagnosis of psychiatric and psychological disorders in patients with cancer, in, ed 12.3: UpToDate , 2005, Vol 2005 215. Payne R. Practice Guidelines for...Scott R: Neurologic complications of cancer therapy, in: UpToDate Online 12.3, 2005, Vol 2005 301. Whedon Marie, Ferrell Betty R. Quality of life in

  20. Neurological outcome of childhood brain tumor survivors.

    PubMed

    Pietilä, Sari; Korpela, Raija; Lenko, Hanna L; Haapasalo, Hannu; Alalantela, Riitta; Nieminen, Pirkko; Koivisto, Anna-Maija; Mäkipernaa, Anne

    2012-05-01

    We assessed neurological and neurocognitive outcome in childhood brain tumor survivors. Altogether, 75 out of 80 brain tumor survivors diagnosed below 17 years between 1983 and 1997; and treated in Tampere University Hospital, Finland, were invited to participate in this population-based cross-sectional study. Fifty-two (69%) participated [mean age 14.2 (3.8-28.7) years, mean follow-up 7.5 (1.5-15.1) years]. Neurological status was abnormal in 69% cases. All were ambulatory, but only 50% showed normal motor function. Twenty-nine percent showed clumsiness/mild asymmetry and 21% hemiparesis. One suffered from intractable epilepsy. According to structured interview, 87% coped normally in daily living. Median full-scale IQ was 85 (39-110) in 21 6-16 year olds (70%); in 29% IQ was <70. Thirty of the 44 school-aged subjects attended school with normal syllabus and 32% needed special education. Six of the 16 patients over 18 years of age were working. Regarding quality of life, 38% were active without disability, 33% active with mild disability, 21% were partially disabled, but capable of self-care, and 8% had severe disability, being incapable of self-care. Supratentorial/hemispheric tumor location, tumor reoperations, shunt revisions and chemotherapy were associated with neurological, cognitive and social disabilities. In conclusion, of the 52 survivors, neurological status was abnormal in 69%; 71% lived an active life with minor disabilities, 29% had major neurological, cognitive and social disabilities, and 8% of them were incapable of self-care. Predictors of these disabilities included supratentorial/hemispheric tumor location, tumor reoperations, shunt revisions and chemotherapy. Survivors need life-long, tailor-made multiprofessional support and follow-up.

  1. Rett syndrome: disruption of epigenetic control of postnatal neurological functions.

    PubMed

    Pohodich, Amy E; Zoghbi, Huda Y

    2015-10-15

    Loss-of-function mutations in the X-linked gene Methyl-CpG-binding protein 2 (MECP2) cause a devastating pediatric neurological disorder called Rett syndrome. In males, these mutations typically result in severe neonatal encephalopathy and early lethality. On the other hand, owing to expression of the normal allele in ∼50% of cells, females do not suffer encephalopathy but instead develop Rett syndrome. Typically females with Rett syndrome exhibit a delayed onset of neurologic dysfunction that manifests around the child's first birthday and progresses over the next few years. Features of this disorder include loss of acquired language and motor skills, intellectual impairment and hand stereotypies. The developmental regression observed in patients with Rett syndrome arises from altered neuronal function and is not the result of neurodegeneration. Maintenance of an appropriate level of MeCP2 appears integral to the function of healthy neurons as patients with increased levels of MeCP2, owing to duplication of the Xq28 region encompassing the MECP2 locus, also present with intellectual disability and progressive neurologic symptoms. Despite major efforts over the past two decades to elucidate the molecular functions of MeCP2, the mechanisms underlying the delayed appearance of symptoms remain unclear. In this review, we will highlight recent findings that have expanded our knowledge of MeCP2's functions, and we will discuss how epigenetic regulation, chromatin organization and circuit dynamics may contribute to the postnatal onset of Rett syndrome.

  2. Selected neurologic complications of pregnancy.

    PubMed

    Fox, M W; Harms, R W; Davis, D H

    1990-12-01

    Many neurologic disorders, such as eclampsia, pseudotumor cerebri, stroke, obstetric nerve palsies, subarachnoid hemorrhage, pituitary tumors, and choriocarcinoma, can develop in the pregnant patient. Maternal mortality from eclampsia, which ranges from 0 to 14%, can be due to intracerebral hemorrhage, pulmonary edema, disseminated intravascular coagulation, abruptio placentae, or failure of the liver or kidneys. Associated fetal mortality ranges from 10 to 28% and is directly related to decreased placental perfusion. Pseudotumor cerebri can be associated with serious visual complications; thus, the therapeutic goal is to prevent loss of vision. The risk of stroke in the pregnant patient is 13 times the risk in the nonpregnant patient of the same age. The major causes of stroke in pregnant patients are arterial occlusion and cerebral venous thrombosis. Lumbar disk prolapse is common in pregnant patients, and lumbosacral plexus injuries can occur during labor or delivery. In addition, peripheral nerve compression or entrapment syndromes are thought to be caused by the retention of fluid during pregnancy. The incidence of subarachnoid hemorrhage during pregnancy is 1 in every 10,000 patients, a rate 5 times higher than in nonpregnant women. Because of a proliferation of prolactin-secreting cells, the pituitary gland can enlarge dramatically during pregnancy, a change that can disclose a previously unknown tumor or cause a known pituitary tumor to become symptomatic. The incidence of choriocarcinoma is 1 in 50,000 full-term pregnancies but 1 in 30 molar pregnancies. This malignant tumor has a high rate of cerebral metastatic lesions. In addition to these disorders that develop during pregnancy, the pregnant state can affect numerous preexisting neurologic conditions, including epilepsy, headaches, multiple sclerosis, myasthenia gravis, spinal cord injury, and brain tumors. We discuss advice for patients with such conditions who wish to become pregnant, recommendations

  3. Neurotransmitter signaling pathways required for normal development in Xenopus laevis embryos: a pharmacological survey screen

    PubMed Central

    Sullivan, Kelly G.; Levin, Michael

    2016-01-01

    Neurotransmitters are not only involved in brain function but are also important signaling molecules for many diverse cell types. Neurotransmitters are widely conserved, from evolutionarily ancient organisms lacking nervous systems through man. Here, we report results from a loss- and gain-of-function survey, using pharmacologic modulators of several neurotransmitter pathways to examine possible roles in normal embryogenesis. Applying reagents targeting the glutamatergic, adrenergic, and dopaminergic pathways to embryos of Xenopus laevis from gastrulation to organogenesis stages, we observed and quantified numerous malformations including craniofacial defects, hyperpigmentation, muscle mispatterning, and miscoiling of the gut. These data implicate several key neurotransmitters in new embryonic patterning roles, reveal novel earlier stages for processes involved in eye development, suggest new targets for subsequent molecular-genetic investigation, and highlight the necessity for in-depth toxicology studies of psychoactive compounds to which human embryos might be exposed during pregnancy. PMID:27060969

  4. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.

    PubMed

    Zollo, Massimo; Ahmed, Mustafa; Ferrucci, Veronica; Salpietro, Vincenzo; Asadzadeh, Fatemeh; Carotenuto, Marianeve; Maroofian, Reza; Al-Amri, Ahmed; Singh, Royana; Scognamiglio, Iolanda; Mojarrad, Majid; Musella, Luca; Duilio, Angela; Di Somma, Angela; Karaca, Ender; Rajab, Anna; Al-Khayat, Aisha; Mohan Mohapatra, Tribhuvan; Eslahi, Atieh; Ashrafzadeh, Farah; Rawlins, Lettie E; Prasad, Rajniti; Gupta, Rashmi; Kumari, Preeti; Srivastava, Mona; Cozzolino, Flora; Kumar Rai, Sunil; Monti, Maria; Harlalka, Gaurav V; Simpson, Michael A; Rich, Philip; Al-Salmi, Fatema; Patton, Michael A; Chioza, Barry A; Efthymiou, Stephanie; Granata, Francesca; Di Rosa, Gabriella; Wiethoff, Sarah; Borgione, Eugenia; Scuderi, Carmela; Mankad, Kshitij; Hanna, Michael G; Pucci, Piero; Houlden, Henry; Lupski, James R; Crosby, Andrew H; Baple, Emma L

    2017-02-28

    PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran and Italy with individuals affected by a new autosomal recessive neurodevelopmental and degenerative disorder in which the cardinal features include primary microcephaly and profound global developmental delay. Our genetic studies identified biallelic mutations of PRUNE1 as responsible. Our functional assays of disease-associated variant alleles revealed impaired microtubule polymerization, as well as cell migration and proliferation properties, of mutant PRUNE. Additionally, our studies also highlight a potential new role for PRUNE during microtubule polymerization, which is essential for the cytoskeletal rearrangements that occur during cellular division and proliferation. Together these studies define PRUNE as a molecule fundamental for normal human cortical development and define cellular and clinical consequences associated with PRUNE mutation.

  5. Development of an imaging vacuum-ultraviolet monochromator in the normal incidence region

    NASA Astrophysics Data System (ADS)

    Koog, J.; Iwasaki, K.; Sato, K.; Hamada, Y.; Toi, K.; JIPP T-IIU Group

    1996-11-01

    An imaging vacuum-ultraviolet monochromator has been developed to provide the space-resolved impurity line emissions from magnetically confined plasmas. With minor modifications of a commercial normal incidence monochromator, a pinhole entrance slit and a microchannel plate detector displaced away from the exit slit, the instrument performs two-dimensional spectroscopic observations in the wavelength range from 400 to 2000 Å. Ray tracing has been performed to understand the spatial imaging properties in the practical geometric configuration. The measured spatial resolution is about 0.5 and 1 mrad in dispersion and vertical plane, respectively, with the entrance slit of 0.1 mm width and height. The results of the testing experiments and the measurements carried out on the JIPP T-IIU tokamak plasma are presented and discussed.

  6. From pronoun reversals to correct pronoun usage: a case study of a normally developing child.

    PubMed

    Schiff-Myers, N B

    1983-11-01

    Personal pronoun confusion ("I/me" for "you" and "you" for "me/I") was studied longitudinally in the language of a highly imitative preschool child with normally developing language. The proportion of pronoun confusion was compared with proportion of imitative utterances and with level of linguistic complexity. Over a 5-month period, pronoun confusion decreased as imitation decreased and linguistic complexity increased. The developmental changes that occurred were qualitative as well as quantitative. Several categories of pronoun confusion were observed. These were similar to pronoun confusions reported in older language-disordered children. Pronoun confusion was related to (a) a tendency to imitate utterances of others, (b) early production of "you" as a productive linguistic form, and (c) a tendency to use a pronoun rather than a noun for self-reference. Clinical implications are presented.

  7. Age-related changes in physical examination and gait parameters in normally developing children and adolescents.

    PubMed

    Lee, Seung Yeol; Lee, Sang Hyeong; Chung, Chin Youb; Park, Moon Seok; Lee, Kyoung Min; Akhmedov, Bekhzad; Choi, In Ho; Cho, Tae-Joon; Yoo, Won Joon; Sung, Ki Hyuk

    2013-03-01

    This study aimed to examine the correlations between physical examinations and gait kinematics, and age-related changes in 47 normally developing children. Physical examinations were not found to be significantly correlated with kinematics, except for Thomas and Staheli tests. Unilateral and bilateral popliteal angles decreased significantly by 2.2 and 1.6° per annum, and ankle dorsiflexion with knee extension and 90° flexion decreased significantly by 0.7 and 0.8°. Physical examinations and gait parameters might represent different dimensions of gait, and care should be taken when assessing gait problems. Age-related changes should be considered when interpreting physical examination and gait kinematics for surgery.

  8. [Fetal lung development on MRT. Normal course and impairment due to premature rupture of membranes].

    PubMed

    Kasprian, G; Brugger, P C; Helmer, H; Langer, M; Balassy, C; Prayer, D

    2006-02-01

    A well-organized interplay between many molecular factors as well as mechanical forces influence fetal lung development. At the end of this complex process a sufficiently sized and structurally mature organ should ensure the postnatal survival of the newborn. Besides prenatal ultrasonography, magnetic resonance imaging (MRI) can now be used to investigate normal and pathological human lung growth in utero. Oligohydramnios, due to premature rupture of membranes (PROM), is an important risk factor for compromised fetal lung growth. In these situations MR volumetry can be used to measure the size of the fetal lung quite accurately. Together with the evaluation of lung signal intensities on T2-weighted sequences, fetuses with pulmonary hypoplasia can be readily detected.

  9. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

    PubMed Central

    Zollo, Massimo; Ahmed, Mustafa; Ferrucci, Veronica; Salpietro, Vincenzo; Asadzadeh, Fatemeh; Carotenuto, Marianeve; Maroofian, Reza; Al-Amri, Ahmed; Singh, Royana; Scognamiglio, Iolanda; Mojarrad, Majid; Musella, Luca; Duilio, Angela; Di Somma, Angela; Karaca, Ender; Rajab, Anna; Al-Khayat, Aisha; Mohan Mohapatra, Tribhuvan; Eslahi, Atieh; Ashrafzadeh, Farah; Rawlins, Lettie E.; Prasad, Rajniti; Gupta, Rashmi; Kumari, Preeti; Srivastava, Mona; Cozzolino, Flora; Kumar Rai, Sunil; Monti, Maria; Harlalka, Gaurav V.; Simpson, Michael A.; Rich, Philip; Al-Salmi, Fatema; Patton, Michael A.; Chioza, Barry A.; Efthymiou, Stephanie; Granata, Francesca; Di Rosa, Gabriella; Wiethoff, Sarah; Borgione, Eugenia; Scuderi, Carmela; Mankad, Kshitij; Hanna, Michael G.; Pucci, Piero; Houlden, Henry; Lupski, James R.; Crosby, Andrew H.

    2017-01-01

    Abstract PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran and Italy with individuals affected by a new autosomal recessive neurodevelopmental and degenerative disorder in which the cardinal features include primary microcephaly and profound global developmental delay. Our genetic studies identified biallelic mutations of PRUNE1 as responsible. Our functional assays of disease-associated variant alleles revealed impaired microtubule polymerization, as well as cell migration and proliferation properties, of mutant PRUNE. Additionally, our studies also highlight a potential new role for PRUNE during microtubule polymerization, which is essential for the cytoskeletal rearrangements that occur during cellular division and proliferation. Together these studies define PRUNE as a molecule fundamental for normal human cortical development and define cellular and clinical consequences associated with PRUNE mutation. PMID:28334956

  10. Normal susceptibility to visual illusions in abnormal development: evidence from Williams syndrome.

    PubMed

    Palomares, Melanie; Ogbonna, Chinyere; Landau, Barbara; Egeth, Howard

    2009-01-01

    The perception of visual illusions is a powerful diagnostic of implicit integration of global information. Many illusions occur when length, size, orientation, or luminance are misjudged because neighboring visuospatial information cannot be ignored. We asked if people with Williams syndrome (WS), a rare genetic disorder that results in severely impaired global visuospatial construction abilities, are also susceptible to the context of visual illusions. Remarkably, we found that illusions influenced WS individuals to the same degree as normal adults, although size discrimination was somewhat impaired in WS. Our results are evidence that illusions are a consequence of the brain's bias to implicitly integrate visual information, even in a population known to have difficulty in explicitly representing spatial relationships among objects. Moreover, these results suggest that implicit and non-implicit integration of spatial information have different vulnerabilities in abnormal development.

  11. Neurological complications of acute multifocal placoid pigment epitheliopathy.

    PubMed

    Brownlee, W J; Anderson, N E; Sims, J; Pereira, J A

    2016-09-01

    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.

  12. Luteinizing hormone, progesterone and the morphological development of normal and superovulated corpora lutea in sheep.

    PubMed

    McClellan, M C; Dieckman, M A; Abel, J H; Niswender, G D

    1975-12-10

    The development of granulosa-lutein cells was studied in 27 normal and 32 superovulated ewes between days 0-4(day 0 began with the preovulatory LH peak in normal animals and the HCG injection in superovulated ewes). The pattern of differentiation was similar in both groups. Following initial hormonal stimulation (0-12 hours after LH or HCG), granulosa cells were approximately 100 mu2 and contained small, pleomorphic nuclei with large amounts of clumped chromatin. Elongate cells lining the basement membrane possessed large, heterogeneous dense bodies, and a well-developed Golgi apparatus. Mitotic figures were observed up to 6 hours prior to ovulation. Sixteen to 20 hours following the LH surge or HCG injection, hypertrophy of granulosa cells was evident. Nuclei contained definitive nucleoli. Blood vessels in the theca interna were abundant and highly dilated. Ovulation occurred approximately 24 hours after the LH peak or HCG injection. Visible signs of luteinization were evident 6-12 hours after ovulation. A slight increase in serum progesterone levels was detected. The second post-ovulatory day was characterized by continuing hypertrophy of granulosa cells and extensive proliferation of smooth endoplasmic reticulum and mitochondria. Nuclei of granulosa cells were larger and possessed extremely large nucleoli. Numerous mitotic figures were apparent within the corpus luteum. Serum progesterone concentrations began increasing at 60-72 hours after hormone stimulation. By the end of the third post-ovulatory day, the corpus luteum consisted of large, pleomorphic, parenchymal cells, interspersed between capillaries and connective tissue elements. Only an occasional mitotic figure was apparent within the corpus luteum at 100 hours. Light microscopic autoradiography of 5, 10, and 15 day corpora lutea taken from ewes pulsed with 3H thymidine at specific times before and after ovulation revealed that granulosa cells did not undergo secondary mitoses following ovulation. In

  13. Normal reproductive development of offspring derived by intracytoplasmic injection of porcine sperm grown in host mice.

    PubMed

    Kaneko, Hiroyuki; Kikuchi, Kazuhiro; Nakai, Michiko; Tanihara, Fuminori; Noguchi, Junko; Noguchi, Michiko; Ito, Junya; Kashiwazaki, Naomi

    2012-09-01

    For establishment of gonadal xenografting, it is essential to clarify whether offspring derived from gametes grown in host mice harboring xenografts have normal reproductive development. This study examined the secretory profiles of gonadal hormones in relation to sexual maturation or ovarian cyclicity in pigs generated by intracytoplasmic sperm injection using xenogeneic sperm (Xeno-ICSI pigs, four males and one female). We also assessed the developmental activity of gametes obtained from these pigs using in vitro culture systems, or by mating with conventionally produced (conventional) pigs. During the growth of male Xeno-ICSI pigs, serum inhibin and testosterone concentrations were generally within ranges for those hormones in conventional pigs. Histologically, there were no differences in the growth and differentiation of seminiferous tubules between Xeno-ICSI and conventional pigs. Parameters of semen quality, including volume, pH, sperm concentration, and the percentage of motile sperm were not different from those in conventional pigs. Among the Xeno-ICSI pigs, individual differences were noted in the ability of sperm to penetrate oocytes and to produce blastocysts. However, oocytes after in vitro fertilization using these sperm developed into blastocysts containing more than 31 cells. One conventional sow delivered 12 piglets after being mated with a male Xeno-ICSI pig. During growth of the female Xeno-ICSI pig, serum progesterone concentrations had a sudden increase at 41 wk of age, suggesting CL formation. After puberty, this animal showed cyclic changes in the serum concentrations of progesterone and inhibin, and delivered 10 piglets after AI using fresh sperm obtained from a conventional boar. In conclusion, these findings demonstrated that both male and female Xeno-ICSI pigs had normal reproductive abilities.

  14. Normal intellectual development in children born from women with hypothyroxinemia during their pregnancy.

    PubMed

    Grau, Gema; Aguayo, Anibal; Vela, Amaia; Aniel-Quiroga, Angeles; Espada, Mercedes; Miranda, Gorka; Martinez-Indart, Lorea; Martul, Pedro; Castaño, Luis; Rica, Itxaso

    2015-01-01

    Proper maternal thyroid function is known to be essential for neural differentiation and migration in the fetus during the first half of pregnancy. The objectives of this study were to assess the relationship between thyroxin levels, in pregnant women with no thyroid disease and the intellectual development of their offspring in a non-iodine-deficient area, and to know specifically whether or not isolated hypothyroxinemia during pregnancy was associated with a lower intelligence in the offspring. Previously we had publicated values TSH, FT4, free T3 (FT3), anti-thyroid peroxidase antibodies (TPO Abs) and urinary iodine concentration (UIC) in 1322 pregnant women in our hospital area. Now we presented results of intelligence quotient in children born from these pregnancies. We assessed 455 children at one year of age using Brunet-Lezine scale. Of these, 289 children were evaluated again at 6-8 years of age using the WISC-IV. From the total group of children recruited, we established as control subgroup, children born of rigorously normal pregnancies (women with UIC > 150 μg/L, FT4>10th percentile and TPO-Ab negative in both trimesters). The remaining children were divided into two subgroups: those born to mothers with FT4 below the 10th percentile and the rest. No correlation was found between FT4 maternal levels, in either of trimesters studied, and the intellectual scores of offspring. No differences were found in intellectual scores comparing children born to mothers with hypothyroxinemia and those whose mothers were euthyroxinemic in both trimesters, or with the control subgroup. As conclusions we did not find any association between the levels of maternal FT4 during pregnancy and the subsequent intellectual development the offspring from these pregnancies. We attribute this result to the fact that all the pregnant women included had normal thyroid function.

  15. Plac1 (placenta-specific 1) is essential for normal placental and embryonic development.

    PubMed

    Jackman, Suzanne M; Kong, Xiaoyuan; Fant, Michael E

    2012-08-01

    Plac1 is a recently identified, X-linked gene whose expression is restricted primarily to cells of the trophoblast lineage. It localizes to a chromosomal locus previously implicated in placental growth. We therefore sought to determine if Plac1 is necessary for placental and embryonic development by examining a mutant mouse model. Plac1 ablation resulted in placentomegaly and mild intrauterine growth retardation (IUGR). At E16.5, knockout (KO) and heterozygous (Het) placentae of the Plac1-null allele inherited from the mother (X(m-) X) weighed approximately 100% more than wildtype (WT) placentae, whereas the corresponding embryos weighed 7-12% less. Histologically, Plac1 mutants exhibited an expanded spongiotrophoblast layer that invaded the labyrinth. By contrast, Het placentae that inherited the null allele from the father (XX(p-) ) exhibited normal growth and were histologically indistinguishable from WT placentae, consistent with paternal imprinting of Plac1. When examined across gestation, WT and X(m-) X placental weights peaked at E16.5 and decreased slightly thereafter. KO placentae (X(m-) X(p-) and X(m-) Y), however, continued to increase in weight after E16.5, consistent with a functional role for the paternal Plac1 allele. Subsequent analysis confirmed that the paternal allele partially escapes complete X-inactivation and thus contributes to placental growth regulation. Additionally, although male Plac1 KO mice can survive, they exhibit decreased viability as a consequence of events occurring late in gestation or shortly after birth. Thus, Plac1 is a paternally imprinted, X-linked gene essential for normal placental and embryonic development.

  16. Cell death and neurodegeneration in the postnatal development of cerebellar vermis in normal and Reeler mice.

    PubMed

    Castagna, Claudia; Merighi, Adalberto; Lossi, Laura

    2016-09-01

    Programmed cell death (PCD) was demonstrated in neurons and glia in normal brain development, plasticity, and aging, but also in neurodegeneration. (Macro)autophagy, characterized by cytoplasmic vacuolization and activation of lysosomal hydrolases, and apoptosis, typically entailing cell shrinkage, chromatin and nuclear condensation, are the two more common forms of PCD. Their underlying intracellular pathways are partly shared and neurons can die following both modalities, according to the type of death-triggering stimulus. Reelin is an extracellular protein necessary for proper neuronal migration and brain lamination. In the mutant Reeler mouse, its absence causes neuronal mispositioning, with a notable degree of cerebellar hypoplasia that was tentatively related to an increase in PCD. We have carried out an ultrastructural analysis on the occurrence and type of postnatal PCD affecting the cerebellar neurons in normal and Reeler mice. In the forming cerebellar cortex, PCD took the form of apoptosis or autophagy and mainly affected the cerebellar granule cells (CGCs). Densities of apoptotic CGCs were comparable in both mouse strains at P0-P10, while, in mutants, they increased to become significantly higher at P15. In WT mice the density of autophagic neurons did not display statistically significant differences in the time interval examined in this study, whereas it was reduced in Reeler in the P0-P10 interval, but increased at P15. Besides CGCs, the Purkinje neurons also displayed autophagic features in both WT and Reeler mice. Therefore, cerebellar neurons undergo different types of PCD and a Reelin deficiency affects the type and degree of neuronal death during postnatal development of the cerebellum.

  17. Darkness during early postnatal development is required for normal circadian patterns in the adult rat.

    PubMed

    Cambras, T; Canal, M M; Cernuda-Cernuda, R; García-Fernández, J M; Díez-Noguera, A

    2015-03-01

    Early light experience influences the brain during development. Perinatal light exposure has an important effect on the development of the circadian system, although the role of quantity versus quality of light in this process is still unclear. We tested the development of the circadian rhythm of locomotor activity under constant bright light from the day of weaning, of six groups of rats raised under different light conditions during suckling. Results indicated that when rats received daily darkness during suckling (rats reared under constant darkness or light-dark cycles with dim or bright light) became arrhythmic when exposed to continuous bright light after weaning. However, those rats reared in the absence of darkness (constant dim or bright light, or alternating dim and bright light) developed a circadian rhythm, which was stronger and had a shorter period depending on the quantity of light received during suckling. Vasointestinal polypeptide immunoreactivity in the suprachiasmatic nucleus (SCN) was higher in those rats with weaker rhythms. However, no apparent differences among these groups were found in the melanopsin-expressing retinal ganglion cells, which provide the SCN with light input in the photoentrainment process. When bright light was shifted to dim light in three of the groups on day 57 after weaning, all of them generated a circadian rhythm with a longer period in those rats previously arrhythmic. Our results indicate the importance of the amount of light received at the early stages of life in the development of the circadian system and suggest that darkness is needed for the normal development of circadian behaviour.

  18. Neurological Impairment: Nomenclature and Consequences.

    ERIC Educational Resources Information Center

    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…

  19. Generalized lymphedema associated with neurologic signs (GLANS) syndrome: a new entity?

    PubMed

    Berton, Marine; Lorette, Gérard; Baulieu, Françoise; Lagrue, Emmanuelle; Blesson, Sophie; Cambazard, Frédéric; Vaillant, Loïc; Maruani, Annabel

    2015-02-01

    Primary lymphedema in children, especially generalized disease with facial involvement, is rare. We sought to report 3 childhood cases of lymphedema with associated neurologic findings and to provide a pathophysiologic explanation for this association. Clinical observations, electroencephalography, and neuroimaging studies were evaluated. Microcomparative genomic hybridization was performed in 1 case. The 3 children had primary lymphedema of all 4 limbs and the face. This was confirmed by lymphoscintigraphy, which showed hypoplasia of vessels and hypofixation of lymph nodes. They had nonspecific neurologic disorders and electroencephalography abnormalities, without intellectual deficit. Neuroimaging revealed normal findings. Microcomparative genomic hybridization in 1 patient revealed no cytogenetic anomaly. The outcome was fatal in 1 case with development of visceral lymphedema and coma. Genetic studies were performed in only 1 case. These observations suggest that neurologic assessment and electroencephalography are indicated for patients with lymphedema of the limbs and face to identify this syndrome. Copyright © 2014 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  20. Mig-6 is required for appropriate lung development and to ensure normal adult lung homeostasis.

    PubMed

    Jin, Nili; Cho, Sung-Nam; Raso, M Gabriela; Wistuba, Ignacio; Smith, Yvonne; Yang, Yanan; Kurie, Jonathan M; Yen, Rudolph; Evans, Christopher M; Ludwig, Thomas; Jeong, Jae-Wook; DeMayo, Francesco J

    2009-10-01

    Mitogen-inducible gene 6 [Mig-6; Errfi1 (ErbB receptor feedback inhibitor 1); RALT (receptor-associated late transducer); gene 33] is a ubiquitously expressed adaptor protein containing CRIB, SH3 and 14-3-3 interacting domains and has been shown to negatively regulate EGF signaling. Ablation of Mig-6 results in a partial lethal phenotype in which surviving mice acquire degenerative joint diseases and tumors in multiple organs. We have determined that the early lethality in Mig-6(-/-) mice occurs in the perinatal period, with mice displaying abnormal lung development. Histological examination of Mig-6(-/-) lungs (E15.5-P3) revealed reduced septation, airway over-branching, alveolar type II cell hyperplasia, and disturbed vascular formation. In neonatal Mig-6(-/-) lungs, cell proliferation increased in the airway epithelium but apoptosis increased in the blood vessels. Adult Mig-6(-/-) mice developed features of chronic obstructive pulmonary disease (COPD); however, when Mig-6 was inducibly ablated in adult mice (Mig-6(d/d)), the lungs were normal. Knockdown of MIG-6 in H441 human bronchiolar epithelial cells increased phospho-EGFR and phospho-AKT levels as well as cell proliferation, whereas knockdown of MIG-6 in human lung microvascular endothelial (HMVEC-L) cells promoted their apoptosis. These results demonstrate that Mig-6 is required for prenatal and perinatal lung development, in part through the regulation of EGF signaling, as well as for maintaining proper pulmonary vascularization.

  1. PDX:PBX complexes are required for normal proliferation of pancreatic cells during development.

    PubMed

    Dutta, S; Gannon, M; Peers, B; Wright, C; Bonner-Weir, S; Montminy, M

    2001-01-30

    The homeobox factor PDX-1 is a key regulator of pancreatic morphogenesis and glucose homeostasis; targeted disruption of the PDX-1 gene leads to pancreatic agenesis in pdx-1(-/-) homozygotes. Pdx-1 heterozygotes develop normally, but they display glucose intolerance in adulthood. Like certain other homeobox proteins, PDX-1 contains a consensus FPWMK motif that promotes heterodimer formation with the ubiquitous homeodomain protein PBX. To evaluate the importance of PDX-1:PBX complexes in pancreatic morphogenesis and glucose homeostasis, we expressed either wild-type or PBX interaction defective PDX-1 transgenes under control of the PDX-1 promoter. Both wild-type and mutant PDX-1 transgenes corrected glucose intolerance in pdx-1 heterozygotes. The wild-type PDX-1 transgene rescued the development of all pancreatic lineages in pdx-1(-/-) animals, and these mice survived to adulthood. In contrast, pancreata from pdx-1(-/-) mice expressing the mutant PDX-1 transgene were hypoplastic, and these mice died within 3 weeks of birth from pancreatic insufficiency. All pancreatic cell types were observed in pdx-1(-/-) mice expressing the mutant PDX-1 transgene; but the islets were smaller, and increased numbers of islet hormone-positive cells were noted within the ductal epithelium. These results indicate that PDX-1:PBX complexes are dispensable for glucose homeostasis and for differentiation of stem cells into ductal, endocrine, and acinar lineages; but they are essential for expansion of these populations during development.

  2. Scribble participates in Hippo signaling and is required for normal zebrafish pronephros development

    PubMed Central

    Skouloudaki, Kassiani; Puetz, Michael; Simons, Matias; Courbard, Jean-Remy; Boehlke, Christopher; Hartleben, Björn; Engel, Christina; Moeller, Marcus J.; Englert, Christoph; Bollig, Frank; Schäfer, Tobias; Ramachandran, Haribaskar; Mlodzik, Marek; Huber, Tobias B.; Kuehn, E. Wolfgang; Kim, Emily; Kramer-Zucker, Albrecht; Walz, Gerd

    2009-01-01

    Spatial organization of cells and their appendages is controlled by the planar cell polarity pathway, a signaling cascade initiated by the protocadherin Fat in Drosophila. Vertebrates express 4 Fat molecules, Fat1–4. We found that depletion of Fat1 caused cyst formation in the zebrafish pronephros. Knockdown of the PDZ domain containing the adaptor protein Scribble intensified the cyst-promoting phenotype of Fat1 depletion, suggesting that Fat1 and Scribble act in overlapping signaling cascades during zebrafish pronephros development. Supporting the genetic interaction with Fat1, Scribble recognized the PDZ-binding site of Fat1. Depletion of Yes-associated protein 1 (YAP1), a transcriptional co-activator inhibited by Hippo signaling, ameliorated the cyst formation in Fat1-deficient zebrafish, whereas Scribble inhibited the YAP1-induced cyst formation. Thus, reduced Hippo signaling and subsequent YAP1 disinhibition seem to play a role in the development of pronephric cysts after depletion of Fat1 or Scribble. We hypothesize that Hippo signaling is required for normal pronephros development in zebrafish and that Scribble is a candidate link between Fat and the Hippo signaling cascade in vertebrates. PMID:19439659

  3. Evolution, Development, and Function of the Pulmonary Surfactant System in Normal and Perturbed Environments.

    PubMed

    Orgeig, Sandra; Morrison, Janna L; Daniels, Christopher B

    2015-12-15

    Surfactant lipids and proteins form a surface active film at the air-liquid interface of internal gas exchange organs, including swim bladders and lungs. The system is uniquely positioned to meet both the physical challenges associated with a dynamically changing internal air-liquid interface, and the environmental challenges associated with the foreign pathogens and particles to which the internal surface is exposed. Lungs range from simple, transparent, bag-like units to complex, multilobed, compartmentalized structures. Despite this anatomical variability, the surfactant system is remarkably conserved. Here, we discuss the evolutionary origin of the surfactant system, which likely predates lungs. We describe the evolution of surfactant structure and function in invertebrates and vertebrates. We focus on changes in lipid and protein composition and surfactant function from its antiadhesive and innate immune to its alveolar stability and structural integrity functions. We discuss the biochemical, hormonal, autonomic, and mechanical factors that regulate normal surfactant secretion in mature animals. We present an analysis of the ontogeny of surfactant development among the vertebrates and the contribution of different regulatory mechanisms that control this development. We also discuss environmental (oxygen), hormonal and biochemical (glucocorticoids and glucose) and pollutant (maternal smoking, alcohol, and common "recreational" drugs) effects that impact surfactant development. On the adult surfactant system, we focus on environmental variables including temperature, pressure, and hypoxia that have shaped its evolution and we discuss the resultant biochemical, biophysical, and cellular adaptations. Finally, we discuss the effect of major modern gaseous and particulate pollutants on the lung and surfactant system.

  4. Normal Development and Function of T Cells in Proline Rich 7 (Prr7) Deficient Mice

    PubMed Central

    Hrdinka, Matous; Sudan, Kritika; Just, Sissy; Drobek, Ales; Stepanek, Ondrej; Schlüter, Dirk; Reinhold, Dirk; Jordan, Bryen A.; Gintschel, Patricia; Schraven, Burkhart; Kreutz, Michael R.

    2016-01-01

    Transmembrane adaptor proteins (TRAPs) are important organisers for the transduction of immunoreceptor-mediated signals. Prr7 is a TRAP that regulates T cell receptor (TCR) signalling and potently induces cell death when overexpressed in human Jurkat T cells. Whether endogenous Prr7 has a similar functional role is currently unknown. To address this issue, we analysed the development and function of the immune system in Prr7 knockout mice. We found that loss of Prr7 partially impairs development of single positive CD4+ T cells in the thymus but has no effect on the development of other T cell subpopulations, B cells, NK cells, or NKT cells. Moreover, Prr7 does not affect the TCR signalling pathway as T cells derived from Prr7 knockout and wild-type animals and stimulated in vitro express the same levels of the activation marker CD69, and retain their ability to proliferate and activate induced cell death programs. Importantly, Prr7 knockout mice retained the capacity to mount a protective immune response when challenged with Listeria monocytogenes infection in vivo. In addition, T cell effector functions (activation, migration, and reactivation) were normal following induction of experimental autoimmune encephalomyelitis (EAE) in Prr7 knockout mice. Collectively, our work shows that loss of Prr7 does not result in a major immune system phenotype and suggests that Prr7 has a dispensable function for TCR signalling. PMID:27657535

  5. Pak2 is required for actin cytoskeleton remodeling, TCR signaling, and normal thymocyte development and maturation

    PubMed Central

    Phee, Hyewon; Au-Yeung, Byron B; Pryshchep, Olga; O'Hagan, Kyle Leonard; Fairbairn, Stephanie Grace; Radu, Maria; Kosoff, Rachelle; Mollenauer, Marianne; Cheng, Debra; Chernoff, Jonathan; Weiss, Arthur

    2014-01-01

    The molecular mechanisms that govern thymocyte development and maturation are incompletely understood. The P21-activated kinase 2 (Pak2) is an effector for the Rho family GTPases Rac and Cdc42 that regulate actin cytoskeletal remodeling, but its role in the immune system remains poorly understood. In this study, we show that T-cell specific deletion of Pak2 gene in mice resulted in severe T cell lymphopenia accompanied by marked defects in development, maturation, and egress of thymocytes. Pak2 was required for pre-TCR β-selection and positive selection. Surprisingly, Pak2 deficiency in CD4 single positive thymocytes prevented functional maturation and reduced expression of S1P1 and KLF2. Mechanistically, Pak2 is required for actin cytoskeletal remodeling triggered by TCR. Failure to induce proper actin cytoskeletal remodeling impaired PLCγ1 and Erk1/2 signaling in the absence of Pak2, uncovering the critical function of Pak2 as an essential regulator that governs the actin cytoskeleton-dependent signaling to ensure normal thymocyte development and maturation. DOI: http://dx.doi.org/10.7554/eLife.02270.001 PMID:24843022

  6. T cells develop normally in the absence of both Deltex1 and Deltex2.

    PubMed

    Lehar, Sophie M; Bevan, Michael J

    2006-10-01

    Deltex1, Deltex2, and Deltex4 form a family of related proteins that are the mammalian homologues of Drosophila Deltex, a known regulator of Notch signals. Deltex1 is highly induced by Notch signaling in thymocytes, and overexpression of Deltex1 in T-cell progenitors can block Notch signals, suggesting that Deltex1 may play an important role in regulating Notch signals during T-cell development. A recent report found that T cells develop normally in mice carrying a targeted deletion in the Deltex1 gene (S. Storck, F. Delbos, N. Stadler, C. Thirion-Delalande, F. Bernex, C. Verthuy, P. Ferrier, J. C. Weill, and C. A. Reynaud, Mol. Cell. Biol. 25: 1437-1445, 2005), suggesting that other Deltex homologues may compensate in Deltex1-deficient T cells. We generated mice that lack expression of both Deltex1 and Deltex2 by gene targeting and further reduced expression of Deltex4 in Deltex1/Deltex2 double-deficient T-cell progenitors using RNA interference. Using a sensitive in vitro assay, we found that Notch signaling is more potent in cells expressing lower levels of Deltex proteins. Nevertheless, we were unable to detect any significant defects in thymocyte maturation in Deltex1/Deltex2 double-knockout mice. Together these data suggest that Deltex can act as a negative regulator of Notch signals in T cells but that endogenous levels of Deltex1 and Deltex2 are not important for regulating Notch signals during thymocyte development.

  7. Validity assessment and the neurological physical examination.

    PubMed

    Zasler, Nathan D

    2015-01-01

    The assessment of any patient or examinee with neurological impairment, whether acquired or congenital, provides a key set of data points in the context of developing accurate diagnostic impressions and implementing an appropriate neurorehabilitation program. As part of that assessment, the neurological physical exam is an extremely important component of the overall neurological assessment. In the aforementioned context, clinicians often are confounded by unusual, atypical or unexplainable physical exam findings that bring into question the organicity, veracity, and/or underlying cause of the observed clinical presentation. The purpose of this review is to provide readers with general directions and specific caveats regarding validity assessment in the context of the neurological physical exam. It is of utmost importance for health care practitioners to be aware of assessment methodologies that may assist in determining the validity of the neurological physical exam and differentiating organic from non-organic/functional impairments. Maybe more importantly, the limitations of many commonly used strategies for assessment of non-organicity should be recognized and consider prior to labeling observed physical findings on neurological exam as non-organic or functional.

  8. WHO/WFN Survey of neurological services: a worldwide perspective.

    PubMed

    Janca, Aleksandar; Aarli, Johan A; Prilipko, Leonid; Dua, Tarun; Saxena, Shekhar; Saraceno, Benedetto

    2006-08-15

    According to the findings obtained in the context of a Global Initiative on Neurology and Public Health carried out by the World Health Organization (WHO), there has been a lack of reliable and comparative data on services and other resources for neurological disorders in many parts of the world. In view of these findings and in collaboration with the World Federation of Neurology (WFN), WHO has recently organized an international Survey of Country Resources for Neurological Disorders, which involved 109 countries and covered over 90% of the world's population. This large WHO/WFN collaborative endeavour collected expert information on a number of aspects of neurological care provision around the world including availability of neurological services in primary care; human resources for neurological disorders; sub-specialized neurological services; primary method of financing of neurological care; and disability benefits for patients with neurological disorders. The WHO/WFN Survey results clearly demonstrate that there are inadequate resources for patients with neurological disorders in most parts of the world, and highlight inequalities in the access to neurological care across different populations, and in particular in those living in low-income countries and in developing regions of the world. The key findings of the WHO/WFN Survey including their impact on delivery of neurological care around the world are presented and discussed in this paper. The entire set of WHO/WFN Survey results including numerous tables, graphs and accompanying commentaries can be found in the WHO/WFN Atlas of Country Resources for Neurological Disorders, which is available on request from WHO or at http://www.who.int/mental_health/neurology/ .

  9. DSPP Is Essential for Normal Development of the Dental-Craniofacial Complex

    PubMed Central

    Chen, Y.; Zhang, Y.; Ramachandran, A.; George, A.

    2015-01-01

    The craniofacial skeleton is derived from both neural crest cells and mesodermal cells; however, the majority of the bone, cartilage, and connective tissue is derived from the neural crest. Dentin sialophosphoprotein (DSPP) is a precursor protein that is expressed by the connective tissues of the craniofacial skeleton, namely, bone and dentin with high expression levels in the dentin matrix. Gene ablation studies have shown severe dental defects in DSPP-null mutant mice. Therefore, to elucidate the role of DSPP on the developing dental-craniofacial complex, we evaluated phenotypic changes in the structure of intramembranous bone and dentin mineralization using 3 different age groups of DSPP-null and wild-type mice. Results from micro–computed tomographic, radiographic, and optical microscopic analyses showed defective dentin, alveolar and calvarial bones, and sutures during development. The impaired mineralization of the cranial bone correlated well with low expression levels of Runx2, Col1, and OPN identified using calvarial cells from DSPP-null and wild-type mice in an in vitro culture system. However, the upregulation of MMP9, MMP2, FN, and BSP was observed. Interestingly, the null mice also displayed low serum phosphate levels, while calcium levels remained unchanged. Alizarin red and von Kossa staining confirmed the dysfunction in the terminal differentiation of osteoblasts obtained from the developing calvaria of DSPP-null mice. Immunohistochemical analysis of the developing molars showed changes in Runx2, Gli1, Numb, and Notch expression in the dental pulp cells and odontoblasts of DSPP-null mice when compared with wild-type mice. Overall, these observations provide insight into the role of DSPP in the normal development of the calvaria, alveolar bone, and dentin-pulp complex. PMID:26503913

  10. DSPP Is Essential for Normal Development of the Dental-Craniofacial Complex.

    PubMed

    Chen, Y; Zhang, Y; Ramachandran, A; George, A

    2016-03-01

    The craniofacial skeleton is derived from both neural crest cells and mesodermal cells; however, the majority of the bone, cartilage, and connective tissue is derived from the neural crest. Dentin sialophosphoprotein (DSPP) is a precursor protein that is expressed by the connective tissues of the craniofacial skeleton, namely, bone and dentin with high expression levels in the dentin matrix. Gene ablation studies have shown severe dental defects in DSPP-null mutant mice. Therefore, to elucidate the role of DSPP on the developing dental-craniofacial complex, we evaluated phenotypic changes in the structure of intramembranous bone and dentin mineralization using 3 different age groups of DSPP-null and wild-type mice. Results from micro-computed tomographic, radiographic, and optical microscopic analyses showed defective dentin, alveolar and calvarial bones, and sutures during development. The impaired mineralization of the cranial bone correlated well with low expression levels of Runx2, Col1, and OPN identified using calvarial cells from DSPP-null and wild-type mice in an in vitro culture system. However, the upregulation of MMP9, MMP2, FN, and BSP was observed. Interestingly, the null mice also displayed low serum phosphate levels, while calcium levels remained unchanged. Alizarin red and von Kossa staining confirmed the dysfunction in the terminal differentiation of osteoblasts obtained from the developing calvaria of DSPP-null mice. Immunohistochemical analysis of the developing molars showed changes in Runx2, Gli1, Numb, and Notch expression in the dental pulp cells and odontoblasts of DSPP-null mice when compared with wild-type mice. Overall, these observations provide insight into the role of DSPP in the normal development of the calvaria, alveolar bone, and dentin-pulp complex. © International & American Associations for Dental Research 2015.

  11. Development and psychometric testing of the scales for measuring maternal satisfaction in normal and caesarean birth.

    PubMed

    Gungor, Ilkay; Beji, Nezihe Kizilkaya

    2012-06-01

    to develop a scale to measure maternal satisfaction with birth to evaluate women's experiences in labour and the early postpartum period. development and psychometric assessment of a multidimensional maternal satisfaction questionnaire. maternity unit of a university hospital in Istanbul. 500 healthy postpartum women. five steps were taken in development of the scale: literature review, generating item pool, content validity testing, administration of draft scale and psychometric testing. Two versions of the scale were developed: the Scale for Measuring Maternal Satisfaction-normal birth and the Scale for Measuring Maternal Satisfaction-caesarean birth. Content validity was evaluated by experts. The appropriate draft scale and the Newcastle Satisfaction with Nursing Scale were administered to postpartum women before hospital discharge. content validity index scores for the vaginal and caesarean birth scales were 0.91 and 0.89, respectively. Item-total and subscale-total scores correlated significantly for each scale. Evaluation of construct validity through factor analysis yielded 10 subscales: 'perception of health professionals', 'nursing/midwifery care in labour (in caesarean version: preparation for caesarean)', 'comforting', 'information and involvement in decision making', 'meeting baby', 'postpartum care', 'hospital room', 'hospital facilities', 'respect for privacy' and 'meeting expectations'. Both scales had good internal reliability, with Cronbach's α coefficients of 0.91. The scales established their convergent validity with significant correlations with the Newcastle Satisfaction with Nursing Scale. the scales are valid and reliable tools for evaluating Turkish women's experiences in labour and the early postpartum period. the scales can contribute to the assessment of women's satisfaction with different aspects of care, the quality of care and developments in maternity services. Copyright © 2011 Elsevier Ltd. All rights reserved.

  12. Antipsychotic drugs disrupt normal development in Caenorhabditis elegans via additional mechanisms besides dopamine and serotonin receptors

    PubMed Central

    Donohoe, Dallas R.; Aamodt, Eric J.; Osborn, Elizabeth; Dwyer, Donard S.

    2006-01-01

    Antipsychotic drugs may produce adverse effects during development in humans and rodents. However, the extent of these effects has not been systematically characterized nor have molecular mechanisms been identified. Consequently, we sought to evaluate the effects of an extensive panel of antipsychotic drugs in a model organism, C. elegans, whose development is well characterized, and which offers the possibility of identifying novel molecular targets. For these studies, animals were grown from hatching in the presence of vehicle (control) or antipsychotic drugs over a range of concentrations (20–160 μM) and growth was analyzed by measuring head-to-tail length at various intervals. First-generation antipsychotics (e.g., fluphenazine) generally slowed growth and maturation more than second-generation drugs such as quetiapine, and olanzapine. This is consistent with in vitro effects on human neuronal cell lines. Clozapine, a second-generation drug, produced similar growth deficits as haloperidol. Converging lines of evidence, including the failure to rescue growth with high concentrations of agonists, suggested that the drug-induced delay in development was not mediated by the major neurotransmitter receptors recognized by the antipsychotic drugs. Moreover, in serotonin-deficient tph-1 mutants, the drugs dramatically slowed development and led to larval arrest (including dauer formation), and neuronal abnormalities. Evaluation of alternative targets of the antipsychotics revealed a potential role for calmodulin and underscored the significance of Ca2+-calmodulin signaling in development. These findings suggest that antipsychotic drugs may interfere with normal developmental processes, and provide a tool for investigating the key signaling pathways involved. PMID:16962336

  13. The beginnings of the Southern Child/Pediatric Neurology Society.

    PubMed

    Dyken, Paul Richard; Bodensteiner, John B

    2015-04-01

    The founding and early development of the Southern Pediatric Neurology Society was in many ways parallel to that of the Child Neurology Society. The organization started out as the Southern Child Neurology Society but the name was changed at the time of incorporation so as to avoid confusion of identity and purpose with the larger Child Neurology Society. Although there are archives of early days and the later development of the Southern Pediatric Neurology Society, the details have never been set down in a narrative explaining the events that led to the development of the organization. In this paper, we try to produce a written record of the history of the founding and early development of the Southern Pediatric Neurology Society.

  14. Demonology, neurology, and medicine in Edwardian Britain.

    PubMed

    Hayward, Rhodri

    2004-01-01

    The idea of a conflict between demonology and psychiatry has been a foundational myth in the history of medicine. Nineteenth-century alienists such as J.-M. Charcot and Henry Maudsley developed critiques of supernatural phenomena in an attempt to pathologize religious experience. Modern historians have reanalyzed these critiques, representing them as strategies in medical professionalization. These accounts all maintain an oddly bifurcated approach to the perceived conflict, treating demonology, as a passive and unchanging set of practices, while medicine is depicted as an active and aggressive agent. An examination of early twentieth-century demonological literature reveals a very different story. Fundamentalists and Pentecostalists engaged with the problems of conversion and possession, developing sophisticated models of the normal and the pathological in spiritual experience. Their writings drew upon medical and psychiatric sources ranging widely from Pastorian germ theory to Jacksonian neurology. This article explores the points of contact between the medical and demonological communities in order to demonstrate the contested nature of biomedical innovation.

  15. The role of tissue factor in normal pregnancy and in the development of preeclampsia: A review.

    PubMed

    Prochazkova, Jana; Slavik, Ludek; Ulehlova, Jana; Prochazka, Martin

    2015-06-01

    Tissue factor (TF) is a key element for normal gestation, especially in the first trimester. TF levels are hence raised in pregnancy, producing an adaptive hypercoagulable state. Potentiated hypercoagulability however, is associated with disorders of pregnancy such as pre-eclampsia but the results of TF and its inhibitor, tissue factor pathway inhibitor (TFPI), measurement, in pre eclampsic women are ambiguous and the data conflicting. This review covers the current knowledge status of the role of TF assessment in pregnancy with a focus on its diagnostic utility. A review of the literature using the following key words: tissue factor, thrombosis, inflammation, pregnancy, preeclampsia. The published literature shows raised and unchanged TF levels in various studies of pre-eclampsia along with equally conflicting data for TFPI. The various study designs and methods used in these studies makes valid comparison difficult. Meta analysis of 34 randomized trials showed that low-dose aspirin in early phases of gravidity (starting from the 16th week or earlier) significantly reduces the incidence of preeclampsia. Overall, the results of the literature search together with knowledge of the structure and biological effects of TF, suggest that measuring the level of plasma TF/TFPI is not ideal for determining the actual levels of TF in the uteroplacental circulation. The current view that endothelial dysfunction is the trigger for preeclampsia, suggests that aspirin may be an effective prophylaxis. Further research will be necessary: measuring the expression of tissue factor on monocytes using flowcytometry and comparing the development of this expression during normal pregnancy and pregnancy complicated by preeclampsia, for example. Another possibility is immunohistochemical determination of the level of TF expression directly in placental tissue.

  16. Normal hearing and language development in a deaf-born child.

    PubMed

    Schauwers, Karen; Gillis, Steven; Daemers, Kristin; De Beukelaer, Carina; De Ceulaer, Geert; Yperman, Marjan; Govaerts, Paul J

    2004-11-01

    Congenital deafness leads to major problems in speech, language, education, and social integration. Neonatal hearing screening and cochlear implantation now allow early hearing restoration. This article reports on a prospective longitudinal study of the first infant ever who received two cochlear implants in the prelexical period of her life. The first deaf-born girl ever who received two implants at the ages of 5 and 15 months, respectively, was followed-up with repeated and detailed quantitative assessments from birth to 4 years of age. This consisted of 1) audiologic evaluation (audiometry, speech audiometry, and Categories of Auditory Performance score), 2) linguistic evaluation (monthly video analyses and tests of vocabulary, language skills, grammar, and intelligibility of the child's speech), and 3) descriptive assessment of the educational setting. All results lie within the 95% confidence interval of hearing peers. The audiologic performance lies at or above average from age 2 years onward. The child started babbling at the normal age of 8 months. Her linguistic skills increased from low percentiles before age 2 to above average from age 2 for comprehension and from age 3 for production. The grammar and intelligibility of the child's speech increased from low percentiles to average at age 4. The girl entered preschool at the normal age of 2.5 years, and this with only very limited special assistance. This case illustrates the fact that congenital deafness no longer has to lead to abnormal hearing and abnormal speech development. It opens the debate of the ethics of not implanting a deaf child in the first few months of life.

  17. Protein recoding by ADAR1-mediated RNA editing is not essential for normal development and homeostasis.

    PubMed

    Heraud-Farlow, Jacki E; Chalk, Alistair M; Linder, Sandra E; Li, Qin; Taylor, Scott; White, Joshua M; Pang, Lokman; Liddicoat, Brian J; Gupte, Ankita; Li, Jin Billy; Walkley, Carl R

    2017-09-05

    Adenosine-to-inosine (A-to-I) editing of dsRNA by ADAR proteins is a pervasive epitranscriptome feature. Tens of thousands of A-to-I editing events are defined in the mouse, yet the functional impact of most is unknown. Editing causing protein recoding is the essential function of ADAR2, but an essential role for recoding by ADAR1 has not been demonstrated. ADAR1 has been proposed to have editing-dependent and editing-independent functions. The relative contribution of these in vivo has not been clearly defined. A critical function of ADAR1 is editing of endogenous RNA to prevent activation of the dsRNA sensor MDA5 (Ifih1). Outside of this, how ADAR1 editing contributes to normal development and homeostasis is uncertain. We describe the consequences of ADAR1 editing deficiency on murine homeostasis. Adar1 (E861A/E861A) Ifih1 (-/-) mice are strikingly normal, including their lifespan. There is a mild, non-pathogenic innate immune activation signature in the Adar1 (E861A/E861A) Ifih1 (-/-) mice. Assessing A-to-I editing across adult tissues demonstrates that outside of the brain, ADAR1 performs the majority of editing and that ADAR2 cannot compensate in its absence. Direct comparison of the Adar1 (-/-) and Adar1 (E861A/E861A) alleles demonstrates a high degree of concordance on both Ifih1 (+/+) and Ifih1 (-/-) backgrounds, suggesting no substantial contribution from ADAR1 editing-independent functions. These analyses demonstrate that the lifetime absence of ADAR1-editing is well tolerated in the absence of MDA5. We conclude that protein recoding arising from ADAR1-mediated editing is not essential for organismal homeostasis. Additionally, the phenotypes associated with loss of ADAR1 are the result of RNA editing and MDA5-dependent functions.

  18. Guidelines for neurological consultation.

    PubMed

    Whitney, F W

    1982-01-01

    Referral to specialists for care which requires expert knowledge is a common occurrence in primary care. The role of the nurse practitioners is often to make judgments about the need for such referrals, seek appropriate specialists, prepare records and the patient for the referral and maintain contact with patient once expert advice and diagnosis is complete. This article specifically addresses the referral of patients with neurologic problems. Emphasis is placed upon general rules relating to how to refer and how to determine the need for referral. Some common complaints of ambulatory proteins which may need referral such as headache, dizziness the difference between those complaints which need referral and those that do not.

  19. [Between neurology and psychiatry].

    PubMed

    Levine, Joseph; Toser, Doron; Zeev, Kaplan

    2014-06-01

    In this review we will discuss the broad spectrum of possible relationships between the fields of neurology and psychiatry alongside weighing the pros and cons of each alternative relationship. This is in the hope that such discussions will allow an informed decision regarding the construction of future relations between these two areas. The possible connections between the areas are discussed in light of possible relationships that exist between the two groups in the mathematical world with reference to the proposed solutions to the psychophysical mind-body problem.

  20. Neurological theory of hypertension.

    PubMed

    Eggers, A E

    2003-06-01

    Review of the older literature on the relationship between migraine and hypertension, written in the era before either condition could be treated, discloses a high rate of co-morbidity. A neurological theory of essential hypertension is proposed in which the two diseases are brought together into one entity. It is hypothesized that abnormally functioning serotonergic pacemaker cells in the dorsal raphe nucleus, as part of a chronic stress response, inappropriately activate and inhibit parts of the central and autonomic nervous systems, so as to cause the two conditions. This theory builds on a previously published neural theory of migraine.

  1. Trends in normalized difference vegetation index (NDVI) associated with urban development in northern West Siberia

    NASA Astrophysics Data System (ADS)

    Esau, Igor; Miles, Victoria V.; Davy, Richard; Miles, Martin W.; Kurchatova, Anna

    2016-08-01

    Exploration and exploitation of oil and gas reserves of northern West Siberia has promoted rapid industrialization and urban development in the region. This development leaves significant footprints on the sensitive northern environment, which is already stressed by the global warming. This study reports the region-wide changes in the vegetation cover as well as the corresponding changes in and around 28 selected urbanized areas. The study utilizes the normalized difference vegetation index (NDVI) from high-resolution (250 m) MODIS data acquired for summer months (June through August) over 15 years (2000-2014). The results reveal the increase of NDVI (or "greening") over the northern (tundra and tundra-forest) part of the region. Simultaneously, the southern, forested part shows the widespread decrease of NDVI (or "browning"). These region-wide patterns are, however, highly fragmented. The statistically significant NDVI trends occupy only a small fraction of the region. Urbanization destroys the vegetation cover within the developed areas and at about 5-10 km distance around them. The studied urbanized areas have the NDVI values by 15 to 45 % lower than the corresponding areas at 20-40 km distance. The largest NDVI reduction is typical for the newly developed areas, whereas the older areas show recovery of the vegetation cover. The study reveals a robust indication of the accelerated greening near the older urban areas. Many Siberian cities become greener even against the wider browning trends at their background. Literature discussion suggests that the observed urban greening could be associated not only with special tending of the within-city green areas but also with the urban heat islands and succession of more productive shrub and tree species growing on warmer sandy soils.

  2. Education Research: Neurology resident education

    PubMed Central

    Mayans, David; Schneider, Logan; Adams, Nellie; Khawaja, Ayaz M.; Engstrom, John

    2016-01-01

    Objective: To survey US-trained graduating neurology residents who are American Academy of Neurology members, in an effort to trend perceived quality and completeness of graduate neurology education. Methods: An electronic survey was sent to all American Academy of Neurology members graduating from US neurology residency programs in the Spring of 2014. Results: Of 805 eligible respondents, 24% completed the survey. Ninety-three percent of adult neurology residents and 56% of child neurology residents reported plans to pursue fellowship training after residency. Respondents reported a desire for additional training in neurocritical care, neuro-oncology, neuromuscular diseases, botulinum toxin injection, and nerve blocks. There remains a clear deficit in business training of neurology residents, although there was notable improvement in knowledge of coding and office management compared to previous surveys. Discussion: Although there are still areas of perceived weakness in neurology training, graduating neurology residents feel generally well prepared for their chosen careers. However, most still pursue fellowship training for reasons that are little understood. In addition to certain subspecialties and procedures, practice management remains deficient in neurology training and is a point of future insecurity for most residents. Future curriculum changes should consider resident-reported gaps in knowledge, with careful consideration of improving business training. PMID:26976522

  3. EHD1 mediates vesicle trafficking required for normal muscle growth and transverse tubule development.

    PubMed

    Posey, Avery D; Swanson, Kaitlin E; Alvarez, Manuel G; Krishnan, Swathi; Earley, Judy U; Band, Hamid; Pytel, Peter; McNally, Elizabeth M; Demonbreun, Alexis R

    2014-03-15

    EHD proteins have been implicated in intracellular trafficking, especially endocytic recycling, where they mediate receptor and lipid recycling back to the plasma membrane. Additionally, EHDs help regulate cytoskeletal reorganization and induce tubule formation. It was previously shown that EHD proteins bind directly to the C2 domains in myoferlin, a protein that regulates myoblast fusion. Loss of myoferlin impairs normal myoblast fusion leading to smaller muscles in vivo but the intracellular pathways perturbed by loss of myoferlin function are not well known. We now characterized muscle development in EHD1-null mice. EHD1-null myoblasts display defective receptor recycling and mislocalization of key muscle proteins, including caveolin-3 and Fer1L5, a related ferlin protein homologous to myoferlin. Additionally, EHD1-null myoblast fusion is reduced. We found that loss of EHD1 leads to smaller muscles and myofibers in vivo. In wildtype skeletal muscle EHD1 localizes to the transverse tubule (T-tubule), and loss of EHD1 results in overgrowth of T-tubules with excess vesicle accumulation in skeletal muscle. We provide evidence that tubule formation in myoblasts relies on a functional EHD1 ATPase domain. Moreover, we extended our studies to show EHD1 regulates BIN1 induced tubule formation. These data, taken together and with the known interaction between EHD and ferlin proteins, suggests that the EHD proteins coordinate growth and development likely through mediating vesicle recycling and the ability to reorganize the cytoskeleton. Copyright © 2014 Elsevier Inc. All rights reserved.

  4. Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis.

    PubMed

    Ebihara, Chihiro; Ebihara, Ken; Aizawa-Abe, Megumi; Mashimo, Tomoji; Tomita, Tsutomu; Zhao, Mingming; Gumbilai, Valentino; Kusakabe, Toru; Yamamoto, Yuji; Aotani, Daisuke; Yamamoto-Kataoka, Sachiko; Sakai, Takeru; Hosoda, Kiminori; Serikawa, Tadao; Nakao, Kazuwa

    2015-08-01

    Seipin, encoded by BSCL2 gene, is a protein whose physiological functions remain unclear. Mutations of BSCL2 cause the most-severe form of congenital generalized lipodystrophy (CGL). BSCL2 mRNA is highly expressed in the brain and testis in addition to the adipose tissue in human, suggesting physiological roles of seipin in non-adipose tissues. Since we found BSCL2 mRNA expression pattern among organs in rat is similar to human while it is not highly expressed in mouse brain, we generated a Bscl2/seipin knockout (SKO) rat using the method with ENU (N-ethyl-N-nitrosourea) mutagenesis. SKO rats showed total lack of white adipose tissues including mechanical fat such as bone marrow and retro-orbital fats, while physiologically functional brown adipose tissue was preserved. Besides the lipodystrophic phenotypes, SKO rats showed impairment of spatial working memory with brain weight reduction and infertility with azoospermia. We confirmed reduction of brain volume and number of sperm in human patients with BSCL2 mutation. This is the first report demonstrating that seipin is necessary for normal brain development and spermatogenesis in addition to white adipose tissue development. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  5. Fetal exposure to antidepressants and normal milestone development at 6 and 19 months of age.

    PubMed

    Pedersen, Lars Henning; Henriksen, Tine Brink; Olsen, Jørn

    2010-03-01

    The goal was to investigate a possible association between exposure to antidepressants in utero and developmental milestones in early childhood. Information on pregnancy exposures and developmental milestones at 6 and 19 months was obtained from the Danish National Birth Cohort. Of the eligible pregnant women, 415 used antidepressant medication, 489 reported depression with no medical treatment, and 81 042 reported no depression and no use of psychotropic medication. Children with second- or third-trimester exposure to antidepressants were able to sit 15.9 days (95% confidence interval [CI]: 6.8-25.0) and to walk 28.9 days (95% CI: 15.0-42.7) later than children of women not exposed to antidepressants but still were within the normal range of development. Fewer children with second- or third-trimester exposure to antidepressants were able to sit without support at 6 months of age (odds ratio: 2.1 [95% CI: 1.23-3.60]), and fewer were able to occupy themselves at 19 months of age (odds ratio: 2.1 [95% CI: 1.09-4.02]). None of the other milestones measured showed statistically significant associations with antidepressant exposure. The results of this study suggest a permanent or reversible effect of antidepressant exposure on fetal brain development, which may depend on the timing of exposure during pregnancy.

  6. The Relationship between Socioeconomic Status and Narrative Abilities in a Group of Italian Normally Developing Children.

    PubMed

    Mozzanica, Francesco; Ambrogi, Federico; Salvadorini, Renata; Sai, Elena; Pozzoli, Raffaella; Barillari, Maria Rosaria; Scarponi, Letizia; Schindler, Antonio

    2016-01-01

    Only limited and conflicting information is available regarding the relationship between socioeconomic status (SES) and narrative abilities. Besides, the role fathers' SES plays in the development of their children's narrative abilities has never been investigated. The aim of this study was to analyze the relationship between fathers' and mothers' SES and narrative abilities of their children assessed with the Italian version of the Bus Story Test (I-BST). A total of 505 normally developing Italian children were enrolled in the study. Information regarding parents' educational level and employment was collected for each child. Narrative abilities were evaluated using the I-BST. The relationships between parents' employment, educational level, and I-BST scores were analyzed by univariate and multivariate regression analysis. In univariate analysis, both fathers' and mothers' education and employment were associated with most I-BST subscale scores, especially when higher educational and employment levels were contrasted with the lowest educational and employment levels. In multiple regression analysis, significant associations were found only between the fathers' working status and educational level and I-BST subscale scores. Parental education and employment might impact narrative abilities of children. When both fathers' and mothers' SES variables are considered together, only fathers' education and working status seemed to be associated with I-BST scores. © 2016 S. Karger AG, Basel.

  7. Polyphenol oxidase affects normal nodule development in red clover (Trifolium pratense L.)

    PubMed Central

    Webb, K. Judith; Cookson, Alan; Allison, Gordon; Sullivan, Michael L.; Winters, Ana L.

    2014-01-01

    Polyphenol oxidase (PPO) may have multiple functions in tissues depending on its cellular or tissue localization. Here we use PPO RNAi transformants of red clover (Trifolium pratense) to determine the role PPO plays in normal development of plants, and especially in N2-fixing nodules. In red clover, PPO was not essential for either growth or nodule production, or for nodule function in plants grown under optimal, N-free conditions. However, absence of PPO resulted in a more reduced environment in all tissues, as measured by redox potential, and caused subtle developmental changes in nodules. Leaves and, to a lesser extent nodules, lacking PPO tended to accumulate phenolic compounds. A comparison of nodules of two representative contrasting clones by microscopy revealed that nodules lacking PPO were morphologically and anatomically subtly altered, and that phenolics accumulated in different cells and tissues. Developing nodules lacking PPO were longer, and there were more cell layers within the squashed cell layer (SCL), but the walls of these cells were less thickened and the cells were less squashed. Within the N2-fixing zone, bacteroids appeared more granular and were less tightly packed together, and were similar to developmentally compromised bacteroids elicited by catalase mutant rhizobia reported elsewhere. PMID:25566275

  8. Ras-GRF1 signaling is required for normal β-cell development and glucose homeostasis

    PubMed Central

    Font de Mora, Jaime; Esteban, Luis Miguel; Burks, Deborah J.; Núñez, Alejandro; Garcés, Carmen; García-Barrado, María José; Iglesias-Osma, María Carmen; Moratinos, Julio; Ward, Jerrold M.; Santos, Eugenio

    2003-01-01

    Development of diabetes generally reflects an inadequate mass of insulin-producing β-cells. β-cell proliferation and differentiation are regulated by a variety of growth factors and hormones, including insulin-like growth factor I (IGF-I). GRF1 is a Ras-guanine nucleotide exchange factor known previously for its restricted expression in brain and its role in learning and memory. Here we demonstrate that GRF1 is also expressed in pancreatic islets. Interest ingly, our GRF1-deficient mice exhibit reduced body weight, hypoinsulinemia and glucose intolerance owing to a reduction of β-cells. Whereas insulin resistance is not detected in peripheral tissues, GRF1 knockout mice are leaner due to increased lipid catabolism. The reduction in circulating insulin does not reflect defective glucose sensing or insulin production but results from impaired β-cell proliferation and reduced neogenesis. IGF-I treatment of isolated islets from GRF1 knockouts fails to activate critical downstream signals such as Akt and Erk. The observed phenotype is similar to manifestations of preclinical type 2 diabetes. Thus, our observations demonstrate a novel and specific role for Ras-GRF1 pathways in the development and maintenance of normal β-cell number and function. PMID:12805218

  9. EHD1 mediates vesicle trafficking required for normal muscle growth and tubule development

    PubMed Central

    Posey, Avery D.; Swanson, Kaitlin E.; Alvarez, Manuel G.; Krishnan, Swathi; Earley, Judy E.; Band, Hamid; Pytel, Peter; McNally, Elizabeth M.; Demonbreun, Alexis R.

    2014-01-01

    EHD proteins have been implicated in intracellular trafficking, especially endocytic recycling, where they mediate receptor and lipid recycling back to the plasma membrane. Additionally, EHDs help regulate cytoskeletal reorganization and induce tubule formation. It was previously shown that EHD proteins bind directly to the C2 domains in myoferlin, a protein that regulates myoblast fusion. Loss of myoferlin impairs normal myoblast fusion leading to smaller muscles in vivo but the intracellular pathways perturbed by loss of myoferlin function are not well known. We now characterized muscle development in EHD1-null mice. EHD1-null myoblasts display defective receptor recycling and mislocalization of key muscle proteins, including caveolin-3 and Fer1L5, a related ferlin protein homologous to myoferlin. Additionally, EHD1-null myoblast fusion is reduced. We found that loss of EHD1 leads to smaller muscles and myofibers in vivo. In wildtype skeletal muscle EHD1 localizes to the transverse tubule (T-tubule), and loss of EHD1 results in overgrowth of T-tubules with excess vesicle accumulation in skeletal muscle. We provide evidence that tubule formation in myoblasts relies on a functional EHD1 ATPase domain. Moreover, we extended our studies to show EHD1 regulates BIN1 induced tubule formation. These data, taken together and with the known interaction between EHD and ferlin proteins, suggests that the EHD proteins coordinate growth and development likely through mediating vesicle recycling and the ability to reorganize the cytoskeleton. PMID:24440153

  10. Subject case marking and verb morphology in normally developing and specifically language-impaired children.

    PubMed

    Loeb, D F; Leonard, L B

    1991-04-01

    Recent theories of language development propose a direct relationship between children's use of verb morphology and their use of subject case pronouns. Such proposals might contribute to an understanding of specifically language-impaired (SLI) children's difficulties. These children's extraordinary problems with verb morphology are well documented, and preliminary evidence indicates frequent pronoun case errors (e.g., her for she) in their speech. Thus, it is possible that a collection of difficulties may be linked to a common source in these children. The objectives of this study were to determine: (a) whether subject case marking, as well as verb morphology was more limited in the speech of a group of SLI children than in the speech of a younger group of normally developing (ND) children matched for mean utterance length; (b) whether a relationship between the use of subject case marking and the use of verb morphology existed in the speech of the ND children; and, if so, (c) whether this relationship is evident in the SLI children as well, in spite of their more limited use of these features. The results revealed that the SLI children were more limited than the ND children in the use of both subject case marking and verb morphology. However, a relationship between the two types of usage was found in both groups of children.

  11. The Sodium Bicarbonate Cotransporter (NBCe1) Is Essential for Normal Development of Mouse Dentition*

    PubMed Central

    Lacruz, Rodrigo S.; Nanci, Antonio; White, Shane N.; Wen, Xin; Wang, HongJun; Zalzal, Sylvia F.; Luong, Vivian Q.; Schuetter, Verna L.; Conti, Peter S.; Kurtz, Ira; Paine, Michael L.

    2010-01-01

    Proximal renal tubular acidosis (pRTA) is a syndrome caused by abnormal proximal tubule reabsorption of bicarbonate resulting in metabolic acidosis. Patients with mutations to the SLC4A4 gene (coding for the sodium bicarbonate cotransporter NBCe1), have pRTA, growth delay, ocular defects, and enamel abnormalities. In an earlier report, we provided the first evidence that enamel cells, the ameloblasts, express NBCe1 in a polarized fashion, thereby contributing to trans-cellular bicarbonate transport. To determine whether NBCe1 plays a critical role in enamel development, we studied the expression of NBCe1 at various stages of enamel formation in wild-type mice and characterized the biophysical properties of enamel in NBCe1−/− animals. The enamel of NBCe1−/− animals was extremely hypomineralized and weak with an abnormal prismatic architecture. The expression profile of amelogenin, a known enamel-specific gene, was not altered in NBCe1−/− animals. Our results show for the first time that NBCe1 expression is required for the development of normal enamel. This study provides a mechanistic model to account for enamel abnormalities in certain patients with pRTA. PMID:20529845

  12. Smpd3 Expression in both Chondrocytes and Osteoblasts Is Required for Normal Endochondral Bone Development

    PubMed Central

    Li, Jingjing; Manickam, Garthiga; Ray, Seemun; Oh, Chun-do; Yasuda, Hideyo; Moffatt, Pierre

    2016-01-01

    Sphingomyelin phosphodiesterase 3 (SMPD3), a lipid-metabolizing enzyme present in bone and cartilage, has been identified to be a key regulator of skeletal development. A homozygous loss-of-function mutation called fragilitas ossium (fro) in the Smpd3 gene causes poor bone and cartilage mineralization resulting in severe congenital skeletal deformities. Here we show that Smpd3 expression in ATDC5 chondrogenic cells is downregulated by parathyroid hormone-related peptide through transcription factor SOX9. Furthermore, we show that transgenic expression of Smpd3 in the chondrocytes of fro/fro mice corrects the cartilage but not the bone abnormalities. Additionally, we report the generation of Smpd3flox/flox mice for the tissue-specific inactivation of Smpd3 using the Cre-loxP system. We found that the skeletal phenotype in Smpd3flox/flox; Osx-Cre mice, in which the Smpd3 gene is ablated in both late-stage chondrocytes and osteoblasts, closely mimics the skeletal phenotype in fro/fro mice. On the other hand, Smpd3flox/flox; Col2a1-Cre mice, in which the Smpd3 gene is knocked out in chondrocytes only, recapitulate the fro/fro mouse cartilage phenotype. This work demonstrates that Smpd3 expression in both chondrocytes and osteoblasts is required for normal endochondral bone development. PMID:27325675

  13. Mice exclusively expressing the short isoform of Smad2 develop normally and are viable and fertile

    PubMed Central

    Dunn, N. Ray; Koonce, Chad H.; Anderson, Dorian C.; Islam, Ayesha; Bikoff, Elizabeth K.; Robertson, Elizabeth J.

    2005-01-01

    Smad2 and Smad3 are closely related effectors of TGFβ/Nodal/Activin-related signaling. Smad3 mutant mice develop normally, whereas Smad2 plays an essential role in patterning the embryonic axis and specification of definitive endoderm. Alternative splicing of Smad2 exon 3 gives rise to two distinct protein isoforms. The short Smad2(Δexon3) isoform, unlike full-length Smad2, Smad2(FL), retains DNA-binding activity. Here, we show that Smad2(FL) and Smad2(Δexon3) are coexpressed throughout mouse development. Directed expression of either Smad2(Δexon3) or Smad3, but not Smad2(FL), restores the ability of Smad2-deficient embryonic stem (ES) cells to contribute descendants to the definitive endoderm in wild-type host embryos. Mice engineered to exclusively express Smad2(Δexon3) correctly specify the anterior–posterior axis and definitive endoderm, and are viable and fertile. Moreover, introducing a human Smad3 cDNA into the mouse Smad2 locus similarly rescues anterior–posterior patterning and definitive endoderm formation and results in adult viability. Collectively, these results demonstrate that the short Smad2(Δexon3) isoform or Smad3, but not full-length Smad2, activates all essential target genes downstream of TGFβ-related ligands, including those regulated by Nodal. PMID:15630024

  14. Normal and abnormal development of the human intrahepatic biliary system: a review.

    PubMed

    Terada, T; Kitamura, Y; Nakanuma, Y

    1997-01-01

    Morphology and immunohistochemical features of the developmental process of the human intrahepatic biliary system (IBS) are reviewed. Human IBS arises from the ductal plate, a double-layered cylindrical structure located at the interface between portal mesenchyme and primitive hepatocytes. The ductal plate first appears from primitive hepatocytes (hepatoblasts) around 8 gestational weeks (GW), and its formation proceeds from the hepatic hilum to the periphery. The ductal plate gradually undergoes remodeling from 12 GW; some parts of the ductal plate disappear and other parts migrate into the portal mesenchyme. Around 20 GW, the migrated duct cells transform into immature bile ducts and peribiliary glands. Some immature peribiliary glands transform into pancreatic acinar cells around postnatal 3 months. The immature biliary elements express cytokeratins no. 7, 8, 18 and 19. Several growth factors (TGF-alpha, HGF) and their receptors (EGFR, MET, ERBB2) were expressed in the primitive IBS cells. Some extracellular matrix proteins including type IV collagen, laminin and tenascin are expressed in the mesenchyme around the primitive IBS. During IBS remodeling, apoptosis and cell proliferation occur with appropriate expression of apoptosis-related proteins (bcl-2, Fas, c-myc, Lewis(y)). Some pancreatic digestive enzymes (alpha-amylase, trypsinogen, lipase), cathepsin B, and matrix metalloproteinases (MMP-1, 2, 3, 9) and their inhibitors (TIMP-1, 2) are expressed in the remodeling IBS cells. Glycoconjugate residues of glycoproteins gradually appear during IBS development. The appropriate expression of these immunophenotypes may play an important role in the normal development of IBS.

  15. Neurologic sequelae of brain tumors in children.

    PubMed

    Ullrich, Nicole J

    2009-11-01

    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.

  16. Cardiac troponin T is necessary for normal development in the embryonic chick heart.

    PubMed

    England, Jennifer; Pang, Kar Lai; Parnall, Matthew; Haig, Maria Isabel; Loughna, Siobhan

    2016-09-01

    The heart is the first functioning organ to develop during embryogenesis. The formation of the heart is a tightly regulated and complex process, and alterations to its development can result in congenital heart defects. Mutations in sarcomeric proteins, such as alpha myosin heavy chain and cardiac alpha actin, have now been associated with congenital heart defects in humans, often with atrial septal defects. However, cardiac troponin T (cTNT encoded by gene TNNT2) has not. Using gene-specific antisense oligonucleotides, we have investigated the role of cTNT in chick cardiogenesis. TNNT2 is expressed throughout heart development and in the postnatal heart. TNNT2-morpholino treatment resulted in abnormal atrial septal growth and a reduction in the number of trabeculae in the developing primitive ventricular chamber. External analysis revealed the development of diverticula from the ventricular myocardial wall which showed no evidence of fibrosis and still retained a myocardial phenotype. Sarcomeric assembly appeared normal in these treated hearts. In humans, congenital ventricular diverticulum is a rare condition, which has not yet been genetically associated. However, abnormal haemodynamics is known to cause structural defects in the heart. Further, structural defects, including atrial septal defects and congenital diverticula, have previously been associated with conduction anomalies. Therefore, to provide mechanistic insights into the effect that cTNT knockdown has on the developing heart, quantitative PCR was performed to determine the expression of the shear stress responsive gene NOS3 and the conduction gene TBX3. Both genes were differentially expressed compared to controls. Therefore, a reduction in cTNT in the developing heart results in abnormal atrial septal formation and aberrant ventricular morphogenesis. We hypothesize that alterations to the haemodynamics, indicated by differential NOS3 expression, causes these abnormalities in growth in cTNT knockdown

  17. Primary care perceptions of neurology and neurology services.

    PubMed

    Loftus, Angela M; Wade, Carrie; McCarron, Mark O

    2016-06-01

    Neurophobia (fear of neural sciences) and evaluation of independent sector contracts in neurology have seldom been examined among general practitioners (GPs). A questionnaire determined GPs' perceptions of neurology compared with other medical specialties. GP experiences of neurology services with independent sector companies and the local National Health Service (NHS) were compared. Areas of potential improvement in NHS neurology services were recorded from thematic analyses. Among 76 GPs neurology was perceived to be as interesting as other medical specialties. GPs reported less knowledge, more difficulty and less confidence in neurology compared with other medical specialties. There was a preference for a local NHS neurology service (p<0.001), which was easier to contact (p<0.001) and provided better follow-up. GPs reported that local neurology services provided better patient satisfaction. GPs prefer local NHS neurology services to independent sector contracts. GPs' evaluations should inform commissioning of neurology services. Combating neurophobia should be an integral part of responsive commissioning. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  18. A study of the relationship between neurological function and serum vitamin E concentrations in patients with cystic fibrosis.

    PubMed Central

    Willison, H J; Muller, D P; Matthews, S; Jones, S; Kriss, A; Stead, R J; Hodson, M E; Harding, A E

    1985-01-01

    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

  19. MicroRNAs: Key Regulators in the Central Nervous System and Their Implication in Neurological Diseases

    PubMed Central

    Cao, Dan-Dan; Li, Lu; Chan, Wai-Yee

    2016-01-01

    MicroRNAs (miRNAs) are a class of small, well-conserved noncoding RNAs that regulate gene expression post-transcriptionally. They have been demonstrated to regulate a lot of biological pathways and cellular functions. Many miRNAs are dynamically regulated during central nervous system (CNS) development and are spatially expressed in adult brain indicating their essential roles in neural development and function. In addition, accumulating evidence strongly suggests that dysfunction of miRNAs contributes to neurological diseases. These observations, together with their gene regulation property, implicated miRNAs to be the key regulators in the complex genetic network of the CNS. In this review, we first focus on the ways through which miRNAs exert the regulatory function and how miRNAs are regulated in the CNS. We then summarize recent findings that highlight the versatile roles of miRNAs in normal CNS physiology and their association with several types of neurological diseases. Subsequently we discuss the limitations of miRNAs research based on current studies as well as the potential therapeutic applications and challenges of miRNAs in neurological disorders. We endeavor to provide an updated description of the regulatory roles of miRNAs in normal CNS functions and pathogenesis of neurological diseases. PMID:27240359

  20. Development of and problems in the theory of normal waves in ultrasonic defectoscopy

    NASA Astrophysics Data System (ADS)

    Kharitonov, A. V.

    1980-03-01

    The paper surveys the state-of-the-art and recent achievements in the theory of normal waves propagating through plates, relative to problems in acoustic methods of nondestructive testing, based on material published during the last 12-15 years in the Soviet Union and abroad. Topics discussed include interaction of normal waves with defects in a plate, as well as excitation and reception of normal waves.

  1. Denver developmental screening test II for early identification of the infants who will develop major neurological deficit as a sequalea of hypoxic-ischemic encephalopathy.

    PubMed

    Hallioglu, O; Topaloglu, A K; Zenciroglu, A; Duzovali, O; Yilgor, E; Saribas, S

    2001-08-01

    The primary aim of this study was to find widely available, inexpensive, and non-invasive parameters for early identification or prediction of the infants with hypoxic-ischemic encephalopathy (HIE) who will have a severe adverse outcome (classified as death or a major neurological deficit). Fifty-seven full-term or near-term newborn infants with a diagnosis of HIE were consecutively admitted to the neonatal intensive care unit and studied. Occurrence of seizures during the first 24 h, cranial ultrasonography (US) findings within the first 5 days of life, and Denver developmental screening test II (DDST II) at 6 months of age, were analyzed in relation to mortality and neurological status at 2 years of age. Of the 57 infants, 10 were lost to follow-up. Twenty of the remaining 47 infants had a severe adverse outcome. Among the predictors of severe adverse outcome, occurrence of seizures was found to have a poor predictive accuracy. Cranial US had 100% sensitivity, however with a rather low specificity (55%). However, DDST II at 6 months of age, yielded a very high predictive accuracy (sensitivity=100%, specificity=95%). We conclude that DDST II at 6 months of age could be used in predicting severe neurological outcome in infants with HIE.

  2. Coprophagia in neurologic disorders.

    PubMed

    Josephs, Keith A; Whitwell, Jennifer L; Parisi, Joseph E; Lapid, Maria I

    2016-05-01

    We report on the unusual behavior of coprophagia (eating one's own feces) in neurologic disorders. The Mayo Clinic Health Sciences-computerized clinical database was queried for all patients evaluated at our institution between 1995 and 2015 in which coprophagia was documented in the medical records. Twenty-six patients were identified of which 17 had coprophagia. Of the 17 patients, five were excluded due to age at onset less than 10 years, leaving 12 adult patients for this study. The median age at onset of coprophagia in the 12 patients was 55 years (range 20-88 years), and half were female. Additional behaviors were common including scatolia (fecal smearing), hypersexuality, aggression, and pica (eating objects of any kind). Coprophagia was associated with neurodegenerative dementia in six patients, developmental delay in two, and one each with seizures, steroid psychosis, frontal lobe tumor, and schizoaffective disorder. Brain imaging in the six patients with dementia showed moderate-to-severe medial temporal lobe atrophy, as well as mild frontal lobe atrophy. Autopsy examination was performed in one patient and revealed frontotemporal lobar degeneration pathology. Many different behavioral and pharmacologic therapies were implemented, yet only haloperidol was associated with discontinuation of the behavior. Coprophagia is associated with different neurologic disorders, particularly neurodegenerative dementias. The behavior may be related to medial temporal lobe atrophy, similar to the Klüver-Bucy syndrome. Haloperidol appears to be effective in treating the behavior, at least in some patients.

  3. Neurology and diving.

    PubMed

    Massey, E Wayne; Moon, Richard E

    2014-01-01

    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.

  4. Bridging neuroanatomy, neuroradiology and neurology: three-dimensional interactive atlas of neurological disorders.

    PubMed

    Nowinski, W L; Chua, B C

    2013-06-01

    Understanding brain pathology along with the underlying neuroanatomy and the resulting neurological deficits is of vital importance in medical education and clinical practice. To facilitate and expedite this understanding, we created a three-dimensional (3D) interactive atlas of neurological disorders providing the correspondence between a brain lesion and the resulting disorder(s). The atlas contains a 3D highly parcellated atlas of normal neuroanatomy along with a brain pathology database. Normal neuroanatomy is divided into about 2,300 components, including the cerebrum, cerebellum, brainstem, spinal cord, arteries, veins, dural sinuses, tracts, cranial nerves (CN), white matter, deep gray nuclei, ventricles, visual system, muscles, glands and cervical vertebrae (C1-C5). The brain pathology database contains 144 focal and distributed synthesized lesions (70 vascular, 36 CN-related, and 38 regional anatomy-related), each lesion labeled with the resulting disorder and associated signs, symptoms, and/or syndromes compiled from materials reported in the literature. The initial view of each lesion was preset in terms of its location and size, surrounding surface and sectional (magnetic resonance) neuroanatomy, and labeling of lesion and neuroanatomy. In addition, a glossary of neurological disorders was compiled and for each disorder materials from textbooks were included to provide neurological description. This atlas of neurological disorders is potentially useful to a wide variety of users ranging from medical students, residents and nurses to general practitioners, neuroanatomists, neuroradiologists and neurologists, as it contains both normal (surface and sectional) brain anatomy and pathology correlated with neurological disorders presented in a visual and interactive way.

  5. Incretin hormone receptors are required for normal beta cell development and function in female mice.

    PubMed

    Omar, Bilal; Ahlkvist, Linda; Yamada, Yuchiro; Seino, Yutaka; Ahrén, Bo

    2016-05-01

    The incretin hormones, glucose dependent insulinotropic polypeptide (GIP) and glucagon-like peptide 1 (GLP-1), potentiate insulin secretion and are responsible for the majority of insulin secretion that occurs after a meal. They may also, however, have a fundamental role in pancreatic beta cell development and function, independently of their role in potentiating insulin secretion after a meal. This has led to observations that a loss of GIP or GLP-1 action affects normal beta cell function, however each one of the incretin hormones may compensate when the action of the other is lost and therefore the overall impact of the incretin hormones on beta cell function is not known. We therefore utilized a mouse line deficient in both the GLP-1 and GIP receptor genes, the double incretin receptor knockout (DIRKO), to determine the consequences of a lifelong, complete lack of incretin hormone action on beta cell function, in vivo, in intact animals. We found that DIRKO mice displayed impaired glucose tolerance and insulin secretion in response to both oral glucose and mixed meal tolerance tests compared to wild-type mice. Assessment of beta cell function using the hyperglycemic clamp technique revealed an 80% decrease in first phase insulin response in DIRKO mice, but a normal second phase insulin secretion. A similar decline was seen when wild-type mice were given acute intravenous injection of glucose together with the GLP-1 receptor antagonist Ex9-39. Ex vivo assessments of the pancreas revealed significantly fewer islets in the pancreata of DIRKO mice despite no differences in total pancreatic mass. Insulin secretion from isolated islets of DIRKO mice was impaired to a similar extent to that seen during the hyperglycemic clamp. Insulin secretion in wild-type islets was impaired by acute treatment with Ex9-39 to a similar extent as the in vivo intravenous glucose tolerance tests. In conclusion, a loss of the action of both incretin hormones results in direct impairment

  6. Preliminary models of normal fault development in subduction zones: lithospheric strength and outer rise deformation

    NASA Astrophysics Data System (ADS)

    Naliboff, J. B.; Billen, M. I.

    2010-12-01

    A characteristic feature of global subduction zones is normal faulting in the outer rise region, which reflects flexure of the downgoing plate in response to the slab pull force. Variations in the patterns of outer rise normal faulting between different subduction zones likely reflects both the magnitude of flexural induced topography and the strength of the downgoing plate. In particular, the rheology of the uppermost oceanic lithosphere is likely to strongly control the faulting patterns, which have been well documented recently in both the Middle and South American trenches. These recent observations of outer rise faulting provide a unique opportunity to test different rheological models of the oceanic lithosphere using geodynamic numerical experiments. Here, we develop a new approach for modeling deformation in the outer rise and trench regions of downgoing slabs, and discuss preliminary 2-D numerical models examining the relationship between faulting patterns and the rheology of the oceanic lithosphere. To model viscous and brittle deformation within the oceanic lithosphere we use the CIG (Computational Infrastructure for Geodynamics) finite element code Gale, which is designed to solve long-term tectonic problems. In order to resolve deformation features on geologically realistic scales (< 1 km), we model only the portion of the subduction system seaward of the trench. Horizontal and vertical stress boundary conditions on the side walls drive subduction and reflect, respectively, the ridge-push and slab-pull plate-driving forces. The initial viscosity structure of the oceanic lithosphere and underlying asthenosphere follow a composite viscosity law that takes into account both Newtonian and non-Newtonian deformation. The viscosity structure is consequently governed primarily by the strain rate and thermal structure, which follows a half-space cooling model. Modification of the viscosity structure and development of discrete shear zones occurs during yielding

  7. Krüppel-Like Factor 2 Is Required for Normal Mouse Cardiac Development

    PubMed Central

    Chiplunkar, Aditi R.; Lung, Tina K.; Alhashem, Yousef; Koppenhaver, Benjamin A.; Salloum, Fadi N.; Kukreja, Rakesh C.; Haar, Jack L.; Lloyd, Joyce A.

    2013-01-01

    Krüppel-like factor 2 (KLF2) is expressed in endothelial cells in the developing heart, particularly in areas of high shear stress, such as the atrioventricular (AV) canal. KLF2 ablation leads to myocardial thinning, high output cardiac failure and death by mouse embryonic day 14.5 (E14.5) in a mixed genetic background. This work identifies an earlier and more fundamental role for KLF2 in mouse cardiac development in FVB/N mice. FVB/N KLF2−/− embryos die earlier, by E11.5. E9.5 FVB/N KLF2−/− hearts have multiple, disorganized cell layers lining the AV cushions, the primordia of the AV valves, rather than the normal single layer. By E10.5, traditional and endothelial-specific FVB/N KLF2−/− AV cushions are hypocellular, suggesting that the cells accumulating at the AV canal have a defect in endothelial to mesenchymal transformation (EMT). E10.5 FVB/N KLF2−/− hearts have reduced glycosaminoglycans in the cardiac jelly, correlating with the reduced EMT. However, the number of mesenchymal cells migrating from FVB/N KLF2−/− AV explants into a collagen matrix is reduced considerably compared to wild-type, suggesting that the EMT defect is not due solely to abnormal cardiac jelly. Echocardiography of E10.5 FVB/N KLF2−/− embryos indicates that they have abnormal heart function compared to wild-type. E10.5 C57BL/6 KLF2−/− hearts have largely normal AV cushions. However, E10.5 FVB/N and C57BL/6 KLF2−/− embryos have a delay in the formation of the atrial septum that is not observed in a defined mixed background. KLF2 ablation results in reduced Sox9, UDP-glucose dehydrogenase (Ugdh), Gata4 and Tbx5 mRNA in FVB/N AV canals. KLF2 binds to the Gata4, Tbx5 and Ugdh promoters in chromatin immunoprecipitation assays, indicating that KLF2 could directly regulate these genes. In conclusion, KLF2−/− heart phenotypes are genetic background-dependent. KLF2 plays a role in EMT through its regulation of important cardiovascular genes. PMID:23457456

  8. Visuo-manual coordination in preterm infants without neurological impairments.

    PubMed

    Petkovic, Maja; Chokron, Sylvie; Fagard, Jacqueline

    2016-01-01

    The extent of and reasons for visuo-manual coordination deficits in moderate and late preterm born infants without neurological impairments are not well known. This paper presents a longitudinal study on the visuo-manual development of twelve preterm infants, born after 33-36 weeks of gestation without neurological complications, between the ages of 6 and 12 months. Visuo-manual integration and grasping were assessed using the Peabody Developmental Motor Scales, along with bimanual coordination and handedness tests. Visual function was examined once prior to the beginning of the study. Gross motor development was also evaluated every month. Preterm infants were compared to a control group of ten full-term infants according to corrected age. Compared to full-terms, the visual perception of preterm infants was close to normal, with only a measure of visual fixation lower than in full-terms. In contrast, preterm infants had delayed development of visuo-manual integration, grasping, bimanual coordination, and handedness even when compared using corrected age. Tonicity and gestational age at birth were the main variables associated to the delays. These results are discussed in terms of the possible factors underlying such delays. They need to be confirmed on a larger sample of preterm born children, and to be correlated with later development. This would allow developing markers of future neuropsychological impairments during childhood.

  9. Human pluripotent stem cells as a model of trophoblast differentiation in both normal development and disease.

    PubMed

    Horii, Mariko; Li, Yingchun; Wakeland, Anna K; Pizzo, Donald P; Nelson, Katharine K; Sabatini, Karen; Laurent, Louise Chang; Liu, Ying; Parast, Mana M

    2016-07-05

    Trophoblast is the primary epithelial cell type in the placenta, a transient organ required for proper fetal growth and development. Different trophoblast subtypes are responsible for gas/nutrient exchange (syncytiotrophoblasts, STBs) and invasion and maternal vascular remodeling (extravillous trophoblasts, EVTs). Studies of early human placental development are severely hampered by the lack of a representative trophoblast stem cell (TSC) model with the capacity for self-renewal and the ability to differentiate into both STBs and EVTs. Primary cytotrophoblasts (CTBs) isolated from early-gestation (6-8 wk) human placentas are bipotential, a phenotype that is lost with increasing gestational age. We have identified a CDX2(+)/p63(+) CTB subpopulation in the early postimplantation human placenta that is significantly reduced later in gestation. We describe a reproducible protocol, using defined medium containing bone morphogenetic protein 4 by which human pluripotent stem cells (hPSCs) can be differentiated into CDX2(+)/p63(+) CTB stem-like cells. These cells can be replated and further differentiated into STB- and EVT-like cells, based on marker expression, hormone secretion, and invasive ability. As in primary CTBs, differentiation of hPSC-derived CTBs in low oxygen leads to reduced human chorionic gonadotropin secretion and STB-associated gene expression, instead promoting differentiation into HLA-G(+) EVTs in an hypoxia-inducible, factor-dependent manner. To validate further the utility of hPSC-derived CTBs, we demonstrated that differentiation of trisomy 21 (T21) hPSCs recapitulates the delayed CTB maturation and blunted STB differentiation seen in T21 placentae. Collectively, our data suggest that hPSCs are a valuable model of human placental development, enabling us to recapitulate processes that result in both normal and diseased pregnancies.

  10. Prevention of Neurologic Injuries in Equestrian Sports.<