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Sample records for juvenile neuronal ceroid-lipofuscinosis

  1. Juvenil neuronal ceroid lipofuscinosis

    DEFF Research Database (Denmark)

    Ostergaard, J R; Hertz, Jens Michael

    1998-01-01

    Neuronal ceroid-lipofuscinosis is a group of neurodegenerative diseases which are characterized by an abnormal accumulation of lipopigment in neuronal and extraneuronal cells. The diseases can be differentiated into several subgroups according to age of onset, the clinical picture...

  2. OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

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    Hansen, Michael S.; Hove, Marianne N; Jensen, Hanne;

    2016-01-01

    PURPOSE: To report optical coherence tomography findings obtained in two patients with juvenile neuronal ceroid lipofuscinosis. METHODS: Two case reports. RESULTS: Two 7-year-old girls presented with decreased visual acuity, clumsiness, night blindness, and behavioral problems. Optical coherence...... tomography showed an overall reduction in thickness of the central retina, as well as the outer and the inner retinal layers. The degenerative retinal changes were the same, despite different mutations in the CLN3 gene. CONCLUSION: In these rare cases of juvenile neuronal ceroid lipofuscinosis, optical...

  3. Juvenile neuronal ceroid lipofuscinosis (Batten disease: current insights

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    Ostergaard JR

    2016-08-01

    Full Text Available John R Ostergaard Department of Paediatrics, Aarhus University Hospital, Centre for Rare Diseases, Aarhus, Denmark Abstract: The present review is focused on juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease due to a mutation in CLN3. Functional vision impairment occurring around 5–6 years of age is the first symptom in more than 80% of patients. Approximately 2 years later (though sometimes simultaneously, obvious signs of cognitive impairment appear. Behavior problems can occur in advance, especially in boys. These include anxious and depressed mood, aggressive behavior, and hallucinations, and even psychotic symptoms. Following the teens, severe dementia is present, including loss of memory, attention, and general reasoning abilities, as well as loss of independent adaptive skills such as mobility, feeding, and communicating. Sleep abnormalities, such as settling problems, nocturnal awakenings, and nightmares, are reported in more than half of patients. The vast majority, if not all, patients develop seizures, starting at approximately 10 years of age. Generalized tonic–clonic seizure occurs as the only type of seizure in approximately half of patients, and in combination with partial seizures in a third of patients. There seems to be no difference in seizure severity according to sex or genotype, and there is great variation in seizure activity among patients. Soon after diagnosis, patients begin to have slight ataxic symptoms, and at adolescence extrapyramidal symptoms (rigidity, bradykinesia, slow steps with flexion in hips and knees occur with increasing frequency. Chewing and swallowing difficulties emerge as well, and food intake is hampered in the late teens. Disabling periodically involuntary movements may occur as well. A progressive cardiac involvement with repolarization disturbances, ventricular hypertrophy, and sinus-node dysfunction, ultimately leading to severe bradycardia and/or other conduction abnormalities

  4. Atypical juvenile neuronal ceroid lipofuscinosis: A report of three cases

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    Gururaj Setty

    2013-01-01

    Full Text Available The diagnosis of juvenile neuronal ceroid lipofuscinosis (JNCL is usually based on age of onset, initial clinical symptoms, clinical progression, and pathologic findings. Our cases manifested atypical clinical symptomatology and/or pathologic findings and therefore, represent variant forms of JNCL. Case 1 and 2 presented with slow developmental regression from the age of 4 years and became blind and wheelchair bound at around 8 years. Pathologic finding of lymphocytes showed fingerprint inclusion which was consistent with JNCL. Mutational analysis was positive for CLN5 which usually presents as variant late infantile NCL (LINCL and more common in Finnish population. Case 3 presented with progressive visual loss from the age of 8 years. Clinical symptomatology and age of onset were similar to that of JNCL but was found to have low palmitoyl protein thioesterase, granular inclusion body, and CLN1 mutation, thus representing milder form of INCL. These three cases demonstrated phenotypic-genotypic variations. Pertinent issues relating diagnostic difficulties, ophthalmologic, neuroradiological, and laboratory aspects are discussed.

  5. The cln-3 genes of Caenorhabditis elegans : making C. elegans models for Juvenile Neuronal Ceroid Lipofuscinosis.

    NARCIS (Netherlands)

    Voer, Gert de

    2008-01-01

    The most common neurodegenerative genetic childhood disease, juvenile neuronal ceroid lipofuscinosis (JNCL), is a lysosomal storage disorder that is caused by mutations in the CLN3 gene. In patients' lysosomes material accumulates primarily composed of Subunit c. How mutations in CLN3 lead to this d

  6. The cln-3 genes of Caenorhabditis elegans : making C. elegans models for Juvenile Neuronal Ceroid Lipofuscinosis.

    NARCIS (Netherlands)

    Voer, Gert de

    2008-01-01

    The most common neurodegenerative genetic childhood disease, juvenile neuronal ceroid lipofuscinosis (JNCL), is a lysosomal storage disorder that is caused by mutations in the CLN3 gene. In patients' lysosomes material accumulates primarily composed of Subunit c. How mutations in CLN3 lead to this d

  7. Autosomal dominant adult neuronal ceroid lipofuscinosis

    NARCIS (Netherlands)

    Nijssen, Peter C.G.

    2011-01-01

    this thesis investigates a family with autosomal dominant neuronal ceroid lipofuscinosis, with chapters on clinical neurology, neuropathology, neurogenetics, neurophysiology, auditory and visual aspects.

  8. Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease)

    Energy Technology Data Exchange (ETDEWEB)

    Taschner, P.E.M.; Vos, N. de [Leiden Univ. (Netherlands); Thompson, A.D.; Callen, D.F. [Adelaide`s Children Hospital, North Adelaide (United Kingdom); Doggett, N. [Los Alamos National Lab., NM (United States); Mole, S.E. [University College London (United Kingdom); Dooley, T.P. [Southwest Foundation for Biomedical Research, San Antonio, TX (United States); Barth, P.G. [Amsterdam Medical Center (Netherlands); Breuning, M.H. [Leiden Univ. (Netherlands)]|[Erasmus Univ., Rotterdam (Netherlands)

    1995-03-01

    The gene that is involved in juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease - CLN3 - has been localized to 16p12, and the mutation shows a strong association with alleles of microsatellite markers D16S298, D16S299, and D16S288. Recently, haplotype analysis of a Batten patient from a consanguineous relationship indicated homozygosity for a D16S298 null allele. PCR analysis with different primers on DNA from the patient and his family suggests the presence of a cytogenetically undetectable deletion, which was confirmed by Southern blot analysis. The microdeletion is embedded in a region containing chromosome 16-specific repeated sequences. However, putative candidates for CLN3, members of the highly homologous sulfotransferase gene family, which are also present in this region in several copies, were not deleted in the patient. If the microdeletion in this patient is responsible for Batten disease, then we conclude that the sulfotransferase genes are probably not involved in JNCL. By use of markers and probes flanking D15S298, the maximum size of the microdeletion was determined to be {approximately}29 kb. The microdeletion may affect the CLN3 gene, which is expected to be in close proximity to D16S298. 27 refs., 6 figs.

  9. Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil

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    Eugênia Ribeiro Valadares

    2011-02-01

    Full Text Available OBJECTIVE: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease (OMIM #204200 belongs to the most common group of neurodegenerative disorders of childhood. We report the clinical data and molecular analysis of a large Brazilian family. METHOD: Family composed of two consanguineous couples and thirty-two children. Clinical data of ten JNCL patients and molecular analyses on 13 participants were obtained. RESULTS: The large 1.02 kb deletion was detected. The most severe phenotype, with autistic behavior, tics and parkinsonism was seen in a 12-year-old female and a milder phenotype in a 14-year-old male. Nyctalopia was the first symptom in one deceased child. The visual loss of six patients has been first observed in the school and not at home. CONCLUSION: The report highlights the phenotypical intrafamily variation in 10 affected children of this family. The molecular investigation of this large family in our metabolic center turned possible the diagnosis, right approach and genetic counseling.

  10. Evidence for aberrant astrocyte hemichannel activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL.

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    Maria Burkovetskaya

    Full Text Available Juvenile Neuronal Ceroid Lipofuscinosis (JNCL is a lysosomal storage disease caused by an autosomal recessive mutation in CLN3 that leads to vision loss, progressive cognitive and motor decline, and premature death. Morphological evidence of astrocyte activation occurs early in the disease process and coincides with regions where neuronal loss eventually ensues. However, the consequences of CLN3 mutation on astrocyte function remain relatively ill-defined. Astrocytes play a critical role in CNS homeostasis, in part, by their ability to regulate the extracellular milieu via the formation of extensive syncytial networks coupled by gap junction (GJ channels. In contrast, unopposed hemichannels (HCs have been implicated in CNS pathology by allowing the non-discriminant passage of molecules between the intracellular and extracellular milieus. Here we examined acute brain slices from CLN3 mutant mice (CLN3Δex7/8 to determine whether CLN3 loss alters the balance of GJ and HC activity. CLN3Δex7/8 mice displayed transient increases in astrocyte HC opening at postnatal day 30 in numerous brain regions, compared to wild type (WT animals; however, HC activity steadily decreased at postnatal days 60 and 90 in CLN3Δex7/8 astrocytes to reach levels lower than WT cells. This suggested a progressive decline in astrocyte function, which was supported by significant reductions in glutamine synthetase, GLAST, and connexin expression in CLN3Δex7/8 mice compared to WT animals. Based on the early increase in astrocyte HC activity, CLN3Δex7/8 mice were treated with the novel carbenoxolone derivative INI-0602 to inhibit HCs. Administration of INI-0602 for a one month period significantly reduced lysosomal ceroid inclusions in the brains of CLN3Δex7/8 mice compared to WT animals, which coincided with significant increases in astrocyte GJ communication and normalization of astrocyte resting membrane potential to WT levels. Collectively, these findings suggest that

  11. 成人型与青少年型神经元蜡样质脂褐质沉积症%Adult Neuronal Ceroid Lipofuscinosis and Juvenile Neuronal Ceroid Lipofuscinosis

    Institute of Scientific and Technical Information of China (English)

    卢伟; 张海南; 谭利明; 朱凯云; 许念桂

    2001-01-01

    Aim: To report a case of Adult Adult Neuronal Ceroid Lipofuscinosis(ANCL)and a case of Juvenile Neuronal Ceroid Lipofuscinosis (JNCL). Methods: The clinicopathological studies of an ANCL and JNCL proved by electromicroscope were performed.Results:In clinical,the two types had dementia but ANCL accompanied motor impairment,and JNCL accompanied seizures and personality changes. At ultrastructure level,mos of the deposits of ANCL were lipofusion granules,but those of JNCL were fingerprint bodies and lipofusion granules.Conclusion:We could differ ANCL from JNCL according to age, clinical manifestations and ultrastructures.%目的:报道2例神经元蜡样质脂褐质沉积症(NCL)。方法:临床和病理学观察。结果:2例病人均有智能障碍,但ANCL同时伴有运动障碍,JNCL则伴有癫痫及性格改变。电镜下ANCL胶质细胞及神经元胞质内沉积物形式主要为脂褐素体,而JNCL主要为指纹体,同时有较多脂褐素体。结论:根据起病年龄、临床表现及超微结构特点可分出本病的成年型和青少年型。

  12. Computed tomography in neuronal ceroid lipofuscinosis

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    Valavanis, A.; Schubiger, O.; Hayek, J.; Friede, R.L

    1981-01-01

    The computed tomography (CT) findings in a verified case of neuronal ceroid lipofuscinosis (NCL) are presented. CT revealed diffuse and severe cerebral atrophy, reflected by generalized subarachnoid space enlargement and symmetric ventricular dilatation. There was no evidence of abnormalities of the white matter. The CT features in our case of NCL correspond perfectly with the neuropathologic changes of the disease mentioned in the literature. Furthermore, CT is of considerable help in differentiating between those inherited metabolic brain diseases characterized primarily by white matter involvement and those presenting predominantly with changes of grey matter.

  13. [The canine neuronal ceroid-lipofuscinosis: a review].

    Science.gov (United States)

    Karli, P; Karol, A; Oevermann, A; Drögemüller, C; Gorgas, D; Henke, D

    2014-09-01

    The present article gives a survey over the current scientific knowledge of the canine neuronal ceroid-lipofuscinosis (NCL). NCL is a heterogenous group of lysosomal storage diseases in humans and animals. In consequence of a gene mutation, there is an accumulation of ceroid-lipofuscin in neurons, cells of the retina and the skin and other cells. The stored ceroid-lipofuscin in neurons leads to an impaired cell function and subsequently to cell death. Recently, the underlying genetic defect was discovered in several dog breeds. Genetic testing permits an ante mortem diagnosis of the disease, which up to now was only possible with a positive biopsy result. Another advantage is the identification of carrier animals to eliminate the deleterious alleles.

  14. Neuronal ceroid-lipofuscinosis and hydrocephalus in a chihuahua.

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    Kuwamura, M; Hattori, R; Yamate, J; Kotani, T; Sasai, K

    2003-05-01

    A two-year-old, female chihuahua presented with a six-month history of visual dysfunction. Computed tomography revealed dilation of the lateral ventricles in the central nervous system (CNS). The dog was tentatively diagnosed as having hydrocephalus and a month later was euthanased at the owner's request. The skull was expanded and dome-like in shape and an open fontanelle was observed on postmortem examination. Histologically, swollen neurons possessing yellowish pigment granules in the cytoplasm were observed throughout the CNS. These storage materials stained positively with periodic acid Schiff, Schmorl method for lipofuscin and oil red O for lipid, and showed autofluorescence under fluorescence microscopy. Ultrastructurally, the storage materials consisted of dense lamellar structures. This case was unique in having ceroid-lipofuscinosis in association with hydrocephalus.

  15. 青少年型神经元蜡样脂褐质沉积病(JNCL)的发病机制%Mechanisms of juvenile neuronal ceroid lipofuscinosis(JNCL)

    Institute of Scientific and Technical Information of China (English)

    王师尧; 金巍娜; 吴丹

    2009-01-01

    神经元蜡样脂褐质沉积病(Neuronal ceroid lipofuscinosis,NCLs)是一组儿科神经退行性变疾病,青少年型神经元蜡样脂褐质沉积病(Juvenile neuronal ceroid lipofuscinosis,JNCL)是其中一型.其临床表现包括视网膜退化进而失明、癫痫以及进行性的认知和运动能力的减退.本文综述了其发病机制.包括凋亡、自噬、质膜相关的功能障碍,氧化应激与NO转导通路受阻、线粒体和溶酶体功能障碍、胞内pH失衡等.其中研究最为清楚的是细胞凋亡和自噬两种方式.在凋亡中,CLN3基因正常功能的缺陷导致神经酰胺的积累,导致线粒体膜通透性增加(MMP),并最终引发依赖胱酰蛋白酶(Caspase)以及非依赖胱酰蛋白酶的凋亡.自噬既有发生又有被破坏,其破坏的主要原因是自噬小泡的不成熟导致自噬不能有效循环.本文对发病机制,尤其是其细胞死亡的途径的阐述.将有助于对INCL等神经退行性病变一类疾病的认识.

  16. Clinical and genetic study of juvenile neuronal ceroid lipofuscinosis in six Chinese patients%青少年型神经元蜡样质脂褐素沉积病6例的临床特点和基因分析

    Institute of Scientific and Technical Information of China (English)

    毕鸿雁; 栾兴华; 姚生; 陈彬; 张巍; 许春伶; 袁云

    2011-01-01

    目的 报告6例经病理诊断为青少年型神经元蜡样质脂褐素沉积病(juvenlie neuronal ceroid lipofuscinosis,JNCL)患者的临床特点以及部分患者的基因研究结果.方法 总结分析6例JNCL患者的临床特点,并对其中3例患者进行CLN 3基因检查.结果 6例患者,发病年龄为2~7岁,首发症状4例主要为癫痫,2例为视力下降.主要临床表现包括癫痫、视力下降、智能减退.基因检查3例患者均没有发现国外常见的CLN 3基因的大片断缺失,在1例患者发现位于第一外显子的c3G→T杂合突变.结论 国人JNCL具有自己的特点,在CLN 3基因的突变类型方面和其他地区的病例可能不完全相同,也可能存在新的基因.%Objective To study the clinical and genetic characteristics of juvenlie neuronal ceroid lipofuscinosis in six Chinese patients. Methods Clinical characteristics of six Chinese patients with juvenlie neuronal ceroid lipofuscinosis including age of onset, premonitory symptoms and other symptoms, were analyzed retrospectively. CLN 3 gene analysis was conducted in 3 patients using PCR. Results The age of onset of was 2 ~ 7 years old in the six patients. The initial symptoms included seizure in four cases and impared vision in the rest two cases. The patients mainly presented with seizure, impaired vision and mental retardation. A heterozygous mutation of c3G→T was detected in one of three tested cases whereas CLN 3 gene deletion, a common mutation in the Western country, was not founded in those 3 cases. Conclusions Our data suggest that Chinese patients with juvenile neuronal ceroid lipofuscinosis may present seizure as the initial symptom and may result from different CLN 3 mutations from those seen in the Western country.

  17. Partial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 gene.

    Science.gov (United States)

    Sondhi, Dolan; Scott, Emma C; Chen, Alvin; Hackett, Neil R; Wong, Andrew M S; Kubiak, Agnieszka; Nelvagal, Hemanth R; Pearse, Yewande; Cotman, Susan L; Cooper, Jonathan D; Crystal, Ronald G

    2014-03-01

    Juvenile neuronal ceroid lipofuscinosis (JNCL or CLN3 disease) is an autosomal recessive lysosomal storage disease resulting from mutations in the CLN3 gene that encodes a lysosomal membrane protein. The disease primarily affects the brain with widespread intralysosomal accumulation of autofluorescent material and fibrillary gliosis, as well as the loss of specific neuronal populations. As an experimental treatment for the CNS manifestations of JNCL, we have developed a serotype rh.10 adeno-associated virus vector expressing the human CLN3 cDNA (AAVrh.10hCLN3). We hypothesized that administration of AAVrh.10hCLN3 to the Cln3(Δex7/8) knock-in mouse model of JNCL would reverse the lysosomal storage defect, as well as have a therapeutic effect on gliosis and neuron loss. Newborn Cln3(Δex7/8) mice were administered 3 × 10(10) genome copies of AAVrh.10hCLN3 to the brain, with control groups including untreated Cln3(Δex7/8) mice and wild-type littermate mice. After 18 months, CLN3 transgene expression was detected in various locations throughout the brain, particularly in the hippocampus and deep anterior cortical regions. Changes in the CNS neuronal lysosomal accumulation of storage material were assessed by immunodetection of subunit C of ATP synthase, luxol fast blue staining, and periodic acid-Schiff staining. For all parameters, Cln3(Δex7/8) mice exhibited abnormal lysosomal accumulation, but AAVrh.10hCLN3 administration resulted in significant reductions in storage material burden. There was also a significant decrease in gliosis in AAVrh.10hCLN3-treated Cln3(Δex7/8) mice, and a trend toward improved neuron counts, compared with their untreated counterparts. These data demonstrate that AAVrh.10 delivery of a wild-type cDNA to the CNS is not harmful and instead provides a partial correction of the neurological lysosomal storage defect of a disease caused by a lysosomal membrane protein, indicating that this may be an effective therapeutic strategy for JNCL and

  18. 神经蜡样质脂褐素沉积病%Neuronal ceroid lipofuscinosis

    Institute of Scientific and Technical Information of China (English)

    袁云; 陈清棠

    2002-01-01

    @@ 一、概述和分类 神经蜡样质脂褐素沉积病(neuronal ceroid lipofuscinosis, NCL)是一组儿童常见的遗传性进行性神经系统变性病.多数患者在儿童期发病,偶尔也出现于成年人.其临床特点包括进行性痴呆、难治性癫和视力丧失.在病理上表现为具有黄色自发荧光特性的脂色素沉积在神经细胞和其他细胞内,导致以大脑皮层和视网膜为主的神经细胞脱失.

  19. Neuronal ceroid-lipofuscinosis, a type of amaurotic family idiocy: clinical and pathological study of four cases

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    Luciano de Souza Queiroz

    1974-03-01

    Full Text Available Neuronal ceroid-lipofuscinosis (NCL is a recent term, proposed for acurate designation of the late-onset types of Amaurotic Family Idiocy (AFI. Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor for characterization of the entity at present time. Biochemical changes and pathogenesis are obscure. NCL is in contrast to the infantile type of AFI (Tay-Sachs disease, in which intraneuronal accumulation of gangliosides (sphingolipids is due to the well known deficiency of a lysosomal enzyme. The authors report on four cases of NCL, two brothers of the late infantile (Jansky-Bielschowsky type and a brother and a sister of the juvenile (Spielmeyer-Sjögren type. One autopsy and three cortical biopsies revealed moderate to severe distention of the neurons by lipopigment, with nerve cell loss, gliosis and cerebral atrophy. Lipopigment was also increased in liver, heart and spleen. The patients were the first in Brazilian literature in whom the storage material was identified as lipopigment by histochemical methods. A brief summary of the clinical features of NCL is presented, and relevant problems are discussed, concerning interpretation of the nature of the storage material, and significance of the disease for gerontological research.

  20. Native and Complexed IGF-1: Biodistribution and Pharmacokinetics in Infantile Neuronal Ceroid Lipofuscinosis

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    Tuulia Huhtala

    2012-01-01

    Full Text Available Infantile neuronal ceroid lipofuscinosis (INCL is a severe neurodegenerative disorder of childhood characterized by selective death of cortical neurons. Insulin-like growth factor 1 (IGF-1 is important in embryonic development and is considered as a potential therapeutic agent for several disorders of peripheral and central nervous systems. In circulation IGF-1 is mainly bound to its carrier protein IGFBP-3. As a therapeutic agent IGF-1 has shown to be more active as free than complexed form. However, this may cause side effects during the prolonged treatment. In addition to IGFBP-3 the bioavailability of IGF-1 can be modulated by using mesoporous silicon nanoparticles (NPs which are optimal carriers for sustained release of unstable peptide hormones like IGF-1. In this study we compared biodistribution, pharmacokinetics, and bioavailability of radiolabeled free IGF-1, IGF-1/IGFBP-3, and IGF-1/NP complexes in a Cln1-/- knockout mouse model. IGF-1/NP was mainly accumulated in liver and spleen in all studied time points, whereas minor and more constant amounts were measured in other organs compared to free IGF-1 or IGF-1/IGFBP-3. Also concentration of IGF-1/NP in blood was relatively high and stable during studied time points suggesting continuous release of IGF-1 from the particles.

  1. 皮肤活检诊断青少年型神经元腊样质脂褐素沉积病%Juvenile neuronal ceroid lipofuscinosis diagnosed by skin biopsy

    Institute of Scientific and Technical Information of China (English)

    袁云; 陈清棠; 姜玉武; 肖江喜

    2001-01-01

    目的 通过皮肤活检诊断青少年型神经元腊样质脂褐素沉积病(青少年型NCL),探讨指纹体样脂褐素在非神经元细胞内的表现。方法 根据1例患儿的病史、症状、体征和辅助检查(头颅CT、核磁共振成像、脑电图)结果,结合患儿左上臂皮肤和肌肉活检标本的光镜和电镜检查结果确定诊断。结果 患儿,9岁6个月,进行性视力减退、癫和痴呆3年半。家族中无类似发病者。发病后2年半MRI显示弥漫性脑萎缩,侧脑室旁白质在T2像信号略增高。脑电图显示阵发性全导慢波爆发和额枕区为主的棘慢波。皮肤和肌肉的光镜检查无明显异常。电镜下小汗腺分泌部的上皮细胞内出现指纹体样脂褐素,指纹体样脂褐素具有三种表现形式:(1)指纹体-曲线体-膜性空泡结构;(2)非空泡化指纹体;(3)膜性包裹的颗粒基质中间的指纹体结构。在皮肤和肌肉的其他细胞内没有发现典型指纹体结构。结论 典型临床表现和全脑萎缩的影像学特点提示可能存在NCL,通过皮肤活检可以确诊青少年型NCL。指纹体脂褐素存在多种表现形式,可以选择性出现在小汗腺分泌部的上皮细胞内,而不出现在皮肤非汗腺组织。%Neuronal ceroid lipofuscinosis (NCL) is a group of progressive and fatal neurodegenerative disorders occurring in infancy and occasionally in adulthood, which was characterized by the accumulation of pathological lipopigments in neurons and other cells. NCL-lipopigments showed various morphological features in different subtypes of NCL, in which fingerprint profiles appeared predominantly in juvenile and adult forms of NCL.Objectives To diagnose juvenile NCL by the skin biopsy in China, and to explore morphological characters of the fingerprint pattern in extraneuronal tissues. Methods According to the history, symptoms, signs, radiological and

  2. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

    LENUS (Irish Health Repository)

    Arsov, Todor

    2011-05-13

    The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been identified. Diagnosis of Kufs disease is difficult because the characteristic lipopigment is largely confined to neurons and can require a brain biopsy or autopsy for final diagnosis. We mapped four families with Kufs disease for whom there was good evidence of autosomal-recessive inheritance and found two peaks on chromosome 15. Three of the families were affected by Kufs type A disease and presented with progressive myoclonus epilepsy, and one was affected by type B (presenting with dementia and motor system dysfunction). Sequencing of a candidate gene in one peak shared by all four families identified no mutations, but sequencing of CLN6, found in the second peak and shared by only the three families affected by Kufs type A disease, revealed pathogenic mutations in all three families. We subsequently sequenced CLN6 in eight other families, three of which were affected by recessive Kufs type A disease. Mutations in both CLN6 alleles were found in the three type A cases and in one family affected by unclassified Kufs disease. Mutations in CLN6 are the major cause of recessive Kufs type A disease. The phenotypic differences between variant late-infantile NCL, previously found to be caused by CLN6, and Kufs type A disease are striking; there is a much later age at onset and lack of visual involvement in the latter. Sequencing of CLN6 will provide a simple diagnostic strategy in this disorder, in which definitive identification usually requires invasive biopsy.

  3. Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL).

    Science.gov (United States)

    Lehtovirta, M; Kyttälä, A; Eskelinen, E L; Hess, M; Heinonen, O; Jalanko, A

    2001-01-01

    A deficiency of palmitoyl protein thioesterase (PPT) leads to the neurodegenerative disease infantile neuronal ceroid lipofuscinosis (INCL), which is characterized by an almost complete loss of cortical neurons. PPT expressed in COS-1 cells is recognized by the mannose-6-phosphate receptor (M6PR) and is routed to lysosome, but a substantial fraction of PPT is secreted. We have here determined the neuronal localization of PPT by confocal microscopy, cryoimmunoelectron microscopy and cell fractionation. In mouse primary neurons and brain tissue, PPT is localized in synaptosomes and synaptic vesicles but not in lysosomes. Furthermore, in polarized epithelial Caco-2 cells, PPT is localized exclusively to the basolateral site, in contrast to the classical lysosomal enzyme, aspartylglucosaminidase (AGA), which is localized in the apical site. The current data imply that PPT has a role outside the lysosomes in the brain and may be associated with synaptic functioning. This finding opens a new route to study the neuropathological events associated with INCL.

  4. Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): Evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes

    Energy Technology Data Exchange (ETDEWEB)

    Williams, R.; McKay, T.; Mitchison, H.; Gardiner, M. (Univ. College of London Medical School (United Kingdom)); Vesa, J.; Jaervelae, I.; Hellsten, E.; Peltonen, L.; Thompson, A.; Callen, D.; Sutherland, G.; Luna-Battadano, D.; Stallings, R.

    1993-10-01

    The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types. Inheritance is autosomal recessive. Three main childhood subtypes are recognized: Infantile (Haltia-Santavuori disease; MIM 256743), late infantile (Jansky-Bielschowsky disease; MIM 204500), and juvenile (Spielmeyer-Sjoegren-Vogt, or Batten disease; MIM 204200). The gene loci for the juvenile (CLN3) and infantile (CLN1) types have been mapped to human chromosomes 16p and 1p, respectively, by linkage analysis. Linkage analysis of 25 families segregating for late-infantile NCL has excluded these regions as the site of this disease locus (CLN2). The three childhood subtypes of NCL therefore arise from mutations at distinct loci. 17 refs., 2 figs., 3 tabs.

  5. Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis

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    Katja M. Kanninen

    2013-05-01

    Neuronal ceroid lipofuscinoses, the most common fatal childhood neurodegenerative illnesses, share many features with more prevalent neurodegenerative diseases. Neuronal ceroid lipofuscinoses are caused by mutations in CLN genes. CLN6 encodes a transmembrane endoplasmic reticulum protein with no known function. We characterized the behavioural phenotype of spontaneous mutant mice modeling CLN6 disease, and demonstrate progressive motor and visual decline and reduced lifespan in these mice, consistent with symptoms observed in neuronal ceroid lipofuscinosis patients. Alterations to biometal homeostasis are known to play a critical role in pathology in Alzheimer's, Parkinson's, Huntington's and motor neuron diseases. We have previously shown accumulation of the biometals, zinc, copper, manganese and cobalt, in CLN6 Merino and South Hampshire sheep at the age of symptom onset. Here we determine the physiological and disease-associated expression of CLN6, demonstrating regional CLN6 transcript loss, and concurrent accumulation of the same biometals in the CNS and the heart of presymptomatic CLN6 mice. Furthermore, increased expression of the ER/Golgi-localized cation transporter protein, Zip7, was detected in cerebellar Purkinje cells and whole brain fractions. Purkinje cells not only control motor function, an early symptomatic change in the CLN6 mice, but also display prominent neuropathological changes in mouse models and patients with different forms of neuronal ceroid lipofuscinoses. Whole brain fractionation analysis revealed biometal accumulation in fractions expressing markers for ER, Golgi, endosomes and lysosomes of CLN6 brains. These data are consistent with a link between CLN6 expression and biometal homeostasis in CLN6 disease, and provide further support for altered cation transporter regulation as a key factor in neurodegeneration.

  6. The novel Cln1R151X mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy

    Science.gov (United States)

    Miller, Jake N.; Kovács, Attila D.; Pearce, David A.

    2015-01-01

    The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of autosomal recessive neurodegenerative disorders in children characterized by the progressive onset of seizures, blindness, motor and cognitive decline and premature death. Patients with mutations in CLN1 primarily manifest with infantile NCL (INCL or Haltia-Santavuori disease), which is second only to congenital NCL for its age of onset and devastating progression. CLN1 encodes a lysosomal enzyme, palmitoyl-protein thioesterase 1 (PPT1). Nonsense mutations in CLN1 account for 52.3% of all disease causing alleles in infantile NCL, the most common of which worldwide is the p.R151X mutation. Previously, we have shown how nonsense-mediated decay is involved in the degradation of CLN1 mRNA transcripts containing the p.R151X mutation in human lymphoblast cell lines. We have also shown how the read-through drugs gentamicin and ataluren (PTC124) increase CLN1 (PPT1) enzyme activity. Here, we provide the initial characterization of the novel Cln1R151X mouse model of infantile neuronal ceroid lipofuscinosis that we have generated. This nonsense mutation model recapitulates the molecular, histological and behavioral phenotypes of the human disease. Cln1R151X mice showed a significant decrease in Cln1 mRNA level and PPT1 enzyme activity, accumulation of autofluorescent storage material, astrocytosis and microglial activation in the brain. Behavioral characterization of Cln1R151X mice at 3 and 5 months of age revealed significant motor deficits as measured by the vertical pole and rotarod tests. We also show how the read-through compound ataluren (PTC124) increases PPT1 enzyme activity and protein level in Cln1R151X mice in a proof-of-principle study. PMID:25205113

  7. Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response

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    Hofmann Sandra L

    2007-11-01

    Full Text Available Abstract Background The infantile form of neuronal ceroid lipofuscinosis (also known as infantile Batten disease is caused by hereditary deficiency of a lysosomal enzyme, palmitoyl-protein thioesterase-1 (PPT1, and is characterized by severe cortical degeneration with blindness and cognitive and motor dysfunction. The PPT1-deficient knockout mouse recapitulates the key features of the disorder, including seizures and death by 7–9 months of age. In the current study, we compared gene expression profiles of whole brain from PPT1 knockout and normal mice at 3, 5 and 8 months of age to identify temporal changes in molecular pathways implicated in disease pathogenesis. Results A total of 267 genes were significantly (approximately 2-fold up- or downregulated over the course of the disease. Immediate early genes (Arc, Cyr61, c-fos, jun-b, btg2, NR4A1 were among the first genes upregulated during the presymptomatic period whereas immune response genes dominated at later time points. Chemokine ligands and protease inhibitors were among the most transcriptionally responsive genes. Neuronal survival factors (IGF-1 and CNTF and a negative regulator of neuronal apoptosis (DAP kinase-1 were upregulated late in the course of the disease. Few genes were downregulated; these included the α2 subunit of the GABA-A receptor, a component of cortical and hippocampal neurons, and Hes5, a transcription factor important in neuronal differentiation. Conclusion A molecular description of gene expression changes occurring in the brain throughout the course of neuronal ceroid lipofuscinosis suggests distinct phases of disease progression, provides clues to potential markers of disease activity, and points to new targets for therapy.

  8. Novel rapid genotyping assays for neuronal ceroid lipofuscinosis in Border Collie dogs and high frequency of the mutant allele in Japan.

    Science.gov (United States)

    Mizukami, Keijiro; Chang, Hye-Sook; Yabuki, Akira; Kawamichi, Takuji; Kawahara, Natsuko; Hayashi, Daisuke; Hossain, Mohammad A; Rahman, Mohammad M; Uddin, Mohammad M; Yamato, Osamu

    2011-11-01

    Neuronal ceroid lipofuscinosis (NCL) constitutes a group of recessively inherited lysosomal storage diseases that primarily affect neuronal cells. Such diseases share certain clinical and pathologic features in human beings and animals. Neuronal ceroid lipofuscinosis in Border Collie dogs was first detected in Australia in the 1980s, and the pathogenic mutation was shown to be a nonsense mutation (c.619C>T) in exon 4 in canine CLN5 gene. In the present study, novel rapid genotyping assays including polymerase chain reaction (PCR)-restriction fragment length polymorphism, PCR primer-induced restriction analysis, mutagenically separated PCR, and real-time PCR with TaqMan minor groove binder probes, were developed. The utility of microchip electrophoresis was also evaluated. Furthermore, a genotyping survey was carried out in a population of Border Collies in Japan using these assays to determine the current allele frequency in Japan, providing information to control and prevent this disease in the next stage. All assays developed in the current study are available to discriminate these genotypes, and microchip electrophoresis showed a timesaving advantage over agarose gel electrophoresis. Of all assays, real-time PCR was the most suitable for large-scale examination because of its high throughput. The genotyping survey demonstrated that the carrier frequency was 8.1%. This finding suggested that the mutant allele frequency of NCL in Border Collies is high enough in Japan that measures to control and prevent the disease would be warranted. The genotyping assays developed in the present study could contribute to the prevention of NCL in Border Collies.

  9. Quantitative analysis of oropharyngeal swallowing in Neuronal Ceroid Lipofuscinosis with gastrostomy: case report

    OpenAIRE

    André Vinicius Marcondes Natel Sales; Paula Cristina Cola; Adriana Gomes Jorge; Fernanda Matias Peres; Rarissa Rúbia Dallaqua dos Santos; Célia Maria Giacheti; Roberta Gonçalves da Silva

    2013-01-01

    The presence of oropharyngeal dysphagia in the pediatric population with genetic diseases it is still poorly studied. The aim of this study was to analyze the oral total transit time and pharyngeal transit time, in an individual with neuronal ceroid lipofucinosis (NCL) with severe oropharyngeal dysphagia. Individual with NCL, 3 years old, 2 years with gastrostomy and no oral feeding, weighting loss, but without pulmonary complications. Oropharyngeal swallowing was studied by videofluoroscopy ...

  10. The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?

    Science.gov (United States)

    Faller, Kiterie M E; Bras, Jose; Sharpe, Samuel J; Anderson, Glenn W; Darwent, Lee; Kun-Rodrigues, Celia; Alroy, Joseph; Penderis, Jacques; Mole, Sara E; Gutierrez-Quintana, Rodrigo; Guerreiro, Rita J

    2016-04-01

    Neuronal ceroid lipofuscinoses (NCLs) are a group of incurable lysosomal storage disorders characterized by neurodegeneration and accumulation of lipopigments mainly within the neurons. We studied two littermate Chihuahua dogs presenting with progressive signs of blindness, ataxia, pacing, and cognitive impairment from 1 year of age. Because of worsening of clinical signs, both dogs were euthanized at about 2 years of age. Postmortem examination revealed marked accumulation of autofluorescent intracellular inclusions within the brain, characteristic of NCL. Whole-genome sequencing was performed on one of the affected dogs. After sequence alignment and variant calling against the canine reference genome, variants were identified in the coding region or splicing regions of four previously known NCL genes (CLN6, ARSG, CLN2 [=TPP1], and CLN7 [=MFSD8]). Subsequent segregation analysis within the family (two affected dogs, both parents, and three relatives) identified MFSD8:p.Phe282Leufs13*, which had previously been identified in one Chinese crested dog with no available ancestries, as the causal mutation. Because of the similarities of the clinical signs and histopathological changes with the human form of the disease, we propose that the Chihuahua dog could be a good animal model of CLN7 disease.

  11. The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

    Science.gov (United States)

    Siintola, Eija ; Topcu, Meral ; Aula, Nina ; Lohi, Hannes ; Minassian, Berge A. ; Paterson, Andrew D. ; Liu, Xiao-Qing ; Wilson, Callum ; Lahtinen, Ulla ; Anttonen, Anna-Kaisa ; Lehesjoki, Anna-Elina 

    2007-01-01

    The late-infantile–onset forms are the most genetically heterogeneous group among the autosomal recessively inherited neurodegenerative disorders, the neuronal ceroid lipofuscinoses (NCLs). The Turkish variant was initially considered to be a distinct genetic entity, with clinical presentation similar to that of other forms of late-infantile–onset NCL (LINCL), including age at onset from 2 to 7 years, epileptic seizures, psychomotor deterioration, myoclonus, loss of vision, and premature death. However, Turkish variant LINCL was recently found to be genetically heterogeneous, because mutations in two genes, CLN6 and CLN8, were identified to underlie the disease phenotype in a subset of patients. After a genomewide scan with single-nucleotide–polymorphism markers and homozygosity mapping in nine Turkish families and one Indian family, not linked to any of the known NCL loci, we mapped a novel variant LINCL locus to chromosome 4q28.1-q28.2 in five families. We identified six different mutations in the MFSD8 gene (previously denoted “MGC33302”), which encodes a novel polytopic 518–amino acid membrane protein that belongs to the major facilitator superfamily of transporter proteins. MFSD8 is expressed ubiquitously, with several alternatively spliced variants. Like the majority of the previously identified NCL proteins, MFSD8 localizes mainly to the lysosomal compartment. However, the function of MFSD8 remains to be elucidated. Analysis of the genome-scan data suggests the existence of at least three more genes in the remaining five families, further corroborating the great genetic heterogeneity of LINCLs. PMID:17564970

  12. Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

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    Liliana Catherine Patiño

    Full Text Available The neuronal ceroid-lipofuscinoses (NCL is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy. Classically, NCL-affected individuals have been classified into six categories, which have been mainly defined regarding the clinical onset of symptoms. However, some patients cannot be easily included in a specific group because of significant variation in the age of onset and disease progression. Molecular genetics has emerged in recent years as a useful tool for enhancing NCL subtype classification. Fourteen NCL genetic forms (CLN1 to CLN14 have been described to date. The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8 and CLN8 mutations. Despite advances in the diagnosis of neurodegenerative disorders mutations in these genes may cause similar phenotypes, which rends difficult accurate candidate gene selection for direct sequencing. Three siblings who were affected by variant late-infantile NCL are reported in the present study. We used whole-exome sequencing, direct sequencing and in silico approaches to identify the molecular basis of the disease. We identified the novel c.1219T>C (p.Trp407Arg and c.1361T>C (p.Met454Thr MFSD8 pathogenic mutations. Our results highlighted next generation sequencing as a novel and powerful methodological approach for the rapid determination of the molecular diagnosis of NCL. They also provide information regarding the phenotypic and molecular spectrum of CLN7 disease.

  13. cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis

    Energy Technology Data Exchange (ETDEWEB)

    Schriner, J.E.; Yi, W.; Hofmann, S.L. [Univ. of Texas Southwestern Medical Center, Dallas, TX (United States)

    1996-06-15

    Palmitoyl-protein thioesterase (PPT) is a small glycoprotein that removes palmitate groups from cysteine residues in lipid-modified proteins. We recently reported mutations in PPT in patients with infantile neuronal ceroid lipofuscinosis (INCL), a severe neurodegenerative disorder. INCL is characterized by the accumulation of proteolipid storage material in brain and other tissues, suggesting that the disease is a consequence of abnormal catabolism of acylated proteins. In the current paper, we report the sequence of the human PPT cDNA and the structure of the human PPT gene. The cDNA predicts a protein of 306 amino acids that contains a 25-amino-acid signal peptide, three N-linked glycosylation sites, and consensus motifs characteristic of thioesterases. Northern analysis of a human tissue blot revealed ubiquitous expression of a single 2.5-kb mRNA, with highest expression in lung, brain, and heart. The human PPT gene spans 25 kb and is composed of seven coding exons and a large eighth exon, containing the entire 3{prime}-untranslated region of 1388 bp. An Alu repeat and promoter elements corresponding to putative binding sites for several general transcription factors were identified in the 1060 nucleotides upstream of the transcription start site. The human PPT cDNA sequence and gene structure will provide the means for the identification of further causative mutations in INCL and facilitate genetic screening in selected high-risk populations. 31 refs., 5 figs., 1 tab.

  14. Glial fibrillary acidic protein is elevated in the lysosomal storage disease classical late-infantile neuronal ceroid lipofuscinosis, but is not a component of the storage material.

    Science.gov (United States)

    Xu, Su; Sleat, David E; Jadot, Michel; Lobel, Peter

    2010-05-27

    Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal neurodegenerative disease of children caused by mutations in TPP1, the gene encoding the lysosomal protease tripeptidyl peptidase 1. LINCL is characterized by lysosomal accumulation of storage material of which only a single protein component, subunit c of mitochondrial ATP synthase, has been well established to date. Identification of other protein constituents of the storage material could provide useful insights into the pathophysiology of disease and the natural substrates for TPP1. We have therefore initiated a proteomic analysis of storage material in brain from a LINCL mouse model. One protein, GFAP (glial fibrillary acidic protein), was found to be elevated in the LINCL mice compared with normal controls in both isolated storage bodies and a lysosome-enriched subcellular fraction that contains storage material. To determine whether GFAP accumulates within the lysosome in LINCL, we examined its intracellular distribution using subcellular fractionation and morphological methods. These experiments demonstrate that GFAP is not a component of the storage material in LINCL, suggesting that reports of GFAP storage in other NCLs may need to be re-examined. A number of other proteins were elevated in the storage material and/or lysosome-enriched fraction from the LINCL mice, but it remains unclear whether these proteins are true constituents of the storage material or, like GFAP, whether they associate with this material upon purification.

  15. 晚期婴儿型神经元蜡样质脂褐素沉积病的MRI及MR波谱表现%MRI and preliminary application of MR spectroscopy in late infantile neuronal ceroid lipofuscinosis

    Institute of Scientific and Technical Information of China (English)

    任爱军; 黄敏华; 林伟; 郭勇

    2009-01-01

    @@ 神经元蜡样质脂褐素沉积病(neuronal ceroid lipofuscinosis,NCL)是一组常见于儿童的进行性神经系统变性疾病,多为常染色体隐性遗传,目前认为是一种溶酶体沉积病.以具有黄色自发荧光特性的蜡样质和脂褐素样物质在神经细胞和其他非神经细胞溶酶体内沉积为特征.

  16. A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.

    Directory of Open Access Journals (Sweden)

    Anne Wöhlke

    2011-10-01

    Full Text Available Neuronal ceroid lipofuscinosis (NCL is a progressive neurodegenerative disease characterized by brain and retinal atrophy and the intracellular accumulation of autofluorescent lysosomal storage bodies resembling lipofuscin in neurons and other cells. Tibetan terriers show a late-onset lethal form of NCL manifesting first visible signs at 5-7 years of age. Genome-wide association analyses for 12 Tibetan-terrier-NCL-cases and 7 Tibetan-terrier controls using the 127K canine Affymetrix SNP chip and mixed model analysis mapped NCL to dog chromosome (CFA 2 at 83.71-84.72 Mb. Multipoint linkage and association analyses in 376 Tibetan terriers confirmed this genomic region on CFA2. A mutation analysis for 14 positional candidate genes in two NCL-cases and one control revealed a strongly associated single nucleotide polymorphism (SNP in the MAPK PM20/PM21 gene and a perfectly with NCL associated single base pair deletion (c.1620delG within exon 16 of the ATP13A2 gene. The c.1620delG mutation in ATP13A2 causes skipping of exon 16 presumably due to a broken exonic splicing enhancer motif. As a result of this mutation, ATP13A2 lacks 69 amino acids. All known 24 NCL cases were homozygous for this deletion and all obligate 35 NCL-carriers were heterozygous. In a sample of 144 dogs from eleven other breeds, the c.1620delG mutation could not be found. Knowledge of the causative mutation for late-onset NCL in Tibetan terrier allows genetic testing of these dogs to avoid matings of carrier animals. ATP13A2 mutations have been described in familial Parkinson syndrome (PARK9. Tibetan terriers with these mutations provide a valuable model for a PARK9-linked disease and possibly for manganese toxicity in synucleinopathies.

  17. Partial genetic suppression of a loss-of-function mutant of the neuronal ceroid lipofuscinosis-associated protease TPP1 in Dictyostelium discoideum

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    Jonathan E. Phillips

    2015-02-01

    Full Text Available Neuronal ceroid lipofuscinosis (NCL is the most common childhood-onset neurodegenerative disease. NCL is inevitably fatal, and there is currently no treatment available. Children with NCL show a progressive decline in movement, vision and mental abilities, and an accumulation of autofluorescent deposits in neurons and other cell types. Late-infantile NCL is caused by mutations in the lysosomal protease tripeptidyl peptidase 1 (TPP1. TPP1 cleaves tripeptides from the N-terminus of proteins in vitro, but little is known about the physiological function of TPP1. TPP1 shows wide conservation in vertebrates but it is not found in Drosophila, Caenorhabditis elegans or Saccharomyces cerevisiae. Here, we characterize ddTpp1, a TPP1 ortholog present in the social amoeba Dictyostelium discoideum. Lysates from cells lacking ddTpp1 show a reduced but not abolished ability to cleave a TPP1 substrate, suggesting that other Dictyostelium enzymes can perform this cleavage. ddTpp1 and human TPP1 localize to the lysosome in Dictyostelium, indicating conserved function and trafficking. Cells that lack ddTpp1 show precocious multicellular development and a reduced ability to form spores during development. When cultured in autophagy-stimulating conditions, cells lacking ddTpp1 rapidly decrease in size and are less viable than wild-type cells, suggesting that one function of ddTpp1 could be to limit autophagy. Cells that lack ddTpp1 exhibit strongly impaired development in the presence of the lysosome-perturbing drug chloroquine, and this phenotype can be suppressed through a secondary mutation in the gene that we name suppressor of tpp1− A (stpA, which encodes a protein with some similarity to mammalian oxysterol-binding proteins (OSBPs. Taken together, these results suggest that targeting specific proteins could be a viable way to suppress the effects of loss of TPP1 function.

  18. Progressive retinal degeneration and glial activation in the CLN6 (nclf mouse model of neuronal ceroid lipofuscinosis: a beneficial effect of DHA and curcumin supplementation.

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    Myriam Mirza

    Full Text Available Neuronal ceroid lipofuscinosis (NCL is a group of neurodegenerative lysosomal storage disorders characterized by vision loss, mental and motor deficits, and spontaneous seizures. Neuropathological analyses of autopsy material from NCL patients and animal models revealed brain atrophy closely associated with glial activity. Earlier reports also noticed loss of retinal cells and reactive gliosis in some forms of NCL. To study this phenomenon in detail, we analyzed the ocular phenotype of CLN6 (nclf mice, an established mouse model for variant-late infantile NCL. Retinal morphometry, immunohistochemistry, optokinetic tracking, electroretinography, and mRNA expression were used to characterize retinal morphology and function as well as the responses of Müller cells and microglia. Our histological data showed a severe and progressive degeneration in the CLN6 (nclf retina co-inciding with reactive Müller glia. Furthermore, a prominent phenotypic transformation of ramified microglia to phagocytic, bloated, and mislocalized microglial cells was identified in CLN6 (nclf retinas. These events overlapped with a rapid loss of visual perception and retinal function. Based on the strong microglia reactivity we hypothesized that dietary supplementation with immuno-regulatory compounds, curcumin and docosahexaenoic acid (DHA, could ameliorate microgliosis and reduce retinal degeneration. Our analyses showed that treatment of three-week-old CLN6 (nclf mice with either 5% DHA or 0.6% curcumin for 30 weeks resulted in a reduced number of amoeboid reactive microglia and partially improved retinal function. DHA-treatment also improved the morphology of CLN6 (nclf retinas with a preserved thickness of the photoreceptor layer in most regions of the retina. Our results suggest that microglial reactivity closely accompanies disease progression in the CLN6 (nclf retina and both processes can be attenuated with dietary supplemented immuno-modulating compounds.

  19. Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis.

    Science.gov (United States)

    Lu, Jui-Yun; Nelvagal, Hemanth R; Wang, Lingling; Birnbaum, Shari G; Cooper, Jonathan D; Hofmann, Sandra L

    2015-01-01

    The neuronal ceroid lipofuscinoses (NCLs) are a group of related hereditary lysosomal storage disorders characterized by progressive loss of neurons in the central nervous system resulting in dementia, loss of motor skills, seizures and blindness. A characteristic intralysosomal accumulation of autofluorescent storage material occurs in the brain and other tissues. Three major forms and nearly a dozen minor forms of NCL are recognized. Infantile-onset NCL (CLN1 disease) is caused by severe deficiency in a soluble lysosomal enzyme, palmitoyl-protein thioesterase-1 (PPT1) and no therapy beyond supportive care is available. Homozygous Ppt1 knockout mice reproduce the known features of the disease, developing signs of motor dysfunction at 5 months of age and death around 8 months. Direct delivery of lysosomal enzymes to the cerebrospinal fluid is an approach that has gained traction in small and large animal models of several other neuropathic lysosomal storage diseases, and has advanced to clinical trials. In the current study, Ppt1 knockout mice were treated with purified recombinant human PPT1 enzyme delivered to the lumbar intrathecal space on each of three consecutive days at 6 weeks of age. Untreated PPT1 knockout mice and wild-type mice served as additional controls. Four enzyme concentration levels (0, 2.6, 5.3 and 10.6 mg/ml of specific activity 20 U/mg) were administered in a volume of 80 μl infused over 8 min. Each group consisted of 16-20 mice. The treatment was well tolerated. Disease-specific survival was 233, 267, 272, and 284days for each of the four treatment groups, respectively, and the effect of treatment was highly significant (p<0.0001). The timing of motor deterioration was also delayed. Neuropathology was improved as evidenced by decreased autofluorescent storage material in the spinal cord and a decrease in CD68 staining in the cortex and spinal cord. The improvements in motor function and survival are similar to results reported for

  20. Melatonin ineffective in neuronal ceroid lipofuscinosis patients with fragmented or normal motor activity rhythms recorded by wrist actigraphy.

    Science.gov (United States)

    Hätönen, T; Kirveskari, E; Heiskala, H; Sainio, K; Laakso, M L; Santavuori, P

    1999-04-01

    Melatonin was tested as a sleeping pill in five patients with neuronal ceroid lipofuscinoses. The single-blind, placebo-controlled study consisted of motor activity recordings, sleep logs, and administration of placebo or melatonin (2.5 or 5 mg). Daily motor activity rhythms were measured by wrist actigraphy during four 7-day periods (baseline, placebo, melatonin 2.5 mg, and melatonin 5 mg). The placebo or melatonin was administered in the evenings for 3 weeks, and the recordings were made during the last week of the 3-week treatment. Sleep logs were kept by the caregivers during the recordings. Based on period analyses, the activity recordings were evaluated to display a normal (24-h) or fragmented rhythm. Three patients had normal motor activity patterns during the baseline recordings, and administration of placebo or melatonin did not affect their rest/activity rhythms. Two patients had abnormally fragmented activity rhythms during the baseline periods, and administration of placebo or melatonin did not induce synchronization. According to the actigraphic data, there were no changes in activity rhythms resulting from administration of melatonin. However, based on the observations, three families reported that melatonin slightly improved the sleep quality of the patients. These controversial findings show the difficulties involved in specifying the role of melatonin in modulating sleep. Thus, we conclude that more evidence is required before the significance of melatonin as a sleeping pill is defined.

  1. An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation

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    Staropoli John F

    2012-06-01

    Full Text Available Abstract Background The neuronal ceroid lipofuscinoses (NCLs, or Batten disease comprise the most common Mendelian form of childhood-onset neurodegeneration, but the functions of the known underlying gene products remain poorly understood. The clinical heterogeneity of these disorders may shed light on genetic interactors that modify disease onset and progression. Case presentation We describe a proband with congenital hypotonia and an atypical form of infantile-onset, biopsy-proven NCL. Pathologic and molecular work-up of this patient identified CLN5 mutations as well as a mutation―previously described as incompletely penetrant or a variant of unknown significance―in POLG1, a nuclear gene essential for maintenance of mitochondrial DNA (mtDNA copy number. The congenital presentation of this patient is far earlier than that described for either CLN5 patients or affected carriers of the POLG1 variant (c.1550 G > T, p.Gly517Val. Assessment of relative mtDNA copy number and mitochondrial membrane potential in the proband and control subjects suggested a pathogenic effect of the POLG1 change as well as a possible functional interaction with CLN5 mutations. Conclusions These findings suggest that an incompletely penetrant variant in POLG1 may modify the clinical phenotype in a case of CLN5 and are consistent with emerging evidence of interactions between NCL-related genes and mitochondrial physiology.

  2. Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin

    Directory of Open Access Journals (Sweden)

    Helena M. Minye

    2016-09-01

    Full Text Available The article contains raw and analyzed data related to the research article “Neuronal ceroid lipofuscinosis genes, CLN2, CLN3, CLN5 are spatially and temporally co-expressed in a developing mouse brain” (Fabritius et al., 2014 [1]. The processed data gives an understanding of the development of the cell types that are mostly affected by defective function of CLN proteins, timing of expression of CLN1, CLN2, CLN3 and CLN5 genes in a murine model. The data shows relationship between the expression pattern of these genes during neural development. Immunohistochemistry was used to identify known interneuronal markers for neurotransmission and cell proliferation: parvalbumin, somatostatin subpopulations of interneurons. Non-radioactive in-situ hybridization detected CLN5 mRNA in the hippocampus. Throughout the development strong expression of CLN genes were identified in the germinal epithelium and in ventricle regions, cortex, hippocampus, and cerebellum. This provides supportive evidence that CLN1, CLN2, CLN3 and CLN5 genes may be involved in synaptic pruning.

  3. The Application of MRI Diagnosis of Neuronal Ceroid Lipofuscinosis%磁共振成像对神经元蜡样质脂褐素沉积病的应用价值

    Institute of Scientific and Technical Information of China (English)

    任爱军; 郭勇

    2009-01-01

    @@ 神经元蜡样质脂褐素沉积病(neuronal ceroid lipofuscinosis,NCL)是一组常见于儿童的遗传性进行性神经系统变性疾病,多为常染色体隐性遗传,目前认为是一种溶酶体沉积病.1826年Stengel对NCL进行了首次描述,并提出了诊断.1969年Zeman[1]将此病命名为神经元蜡样质脂褐素沉积病,以具有黄色自发荧光特性的蜡样质和脂褐素样物质在神经细胞和其它非神经细胞内沉积为特征.临床表现主要有视力障碍、癫痫、精神运动障碍等.多数患者在儿童期发病,罕见于成年人.常规磁共振成像(MRI)、磁共振波谱(MRS)及扩散加权成像(DWI)可以敏感地发现NCL的神经系统改变,对疾病的分型诊断、病情的进展随访有着重要意义.

  4. Lipofuscinose ceróide neuronal: achados clínicos e neurorradiológicos Neuronal ceroid lipofuscinosis: clinical and neuroradiological findings

    OpenAIRE

    Rômulo Lopes Gama; Mauro Nakayama; Daniel Gurgel Fernandes Távora; Thereza Christina de Lara Alvim; Cleto Dantas Nogueira; Dalton Portugal

    2007-01-01

    Lipofuscinose ceróide neuronal (LCN) constitui um grupo de doenças neurodegenerativas caracterizadas pelo depósito anormal de uma substância autofluorescente de lipopigmentos, que lembra ceróide e lipofuscina, dentro dos lisossomos dos neurônios e outros tipos de células. Os principais subtipos fenotípicos, baseando-se na idade de início, curso clínico e morfologia ultraestrutural, são classificados em formas infantil, infantil tardia, juvenil e adulta. Seis genes associados a lipofuscinose c...

  5. 神经元蜡样脂褐质沉积病5例的脑电与临床表现%Clinical presentation and EEG in 5 patients with neuronal ceroid lipofuscinosis

    Institute of Scientific and Technical Information of China (English)

    吴朝晖; 田增民; 卢旺盛; 林鸿; 王红; 王福莉

    2011-01-01

    目的:对5例DNA测序证实的神经元蜡样脂褐质沉积病(neuronal ceroid lipofuscinosis,NCL)患儿的临床和视频脑电图(V-EEG)进行分析,探索临床和EEG的对应关系.方法:对5例NCL患儿进行详细病史询问,神经学查体,行常规V-EEG 2 h监测,观察临床特点和EEG的对应关系.结果:本组5例NCL患儿中,发现在1例病情较轻的患儿EEG表现为局限性慢波和慢波后尖慢波,视频未见抽搐发作;病情重的4例(肌力≤Ⅱ级)患儿中,3例有抽搐发作(1例有侧别优势,其对侧额区周期性(癎)样放电明显),其中1例在EEG低平的状态下抽搐,2例的周期性(癎)样放电与抽搐无固定锁时关系;另1例未见明显抽搐(无任何动作).结论:EEG中特征性的周期性(癎)样放电发生于NCL病情重的患儿,这些患儿中有的甚至出现头皮EEG低平活动.

  6. 神经元蜡样质脂褐质沉积病(NCL)的基因型与表型相关性研究%Genotype-phenotype analyses of classic neuronal ceroid lipofuscinosis (NCLs): genetic predictions from clinical and pathological findings

    Institute of Scientific and Technical Information of China (English)

    Weina JU; W. Ted BROWN; Nanbert ZHONG; Anetta WRONSKA; Dorota N. MOROZIEWICZ; Rocksheng ZHONG; Natalia WISNIEWSKI; Anna JURKIEWICZ; Michael FIORY; Krystyna E. WISNIEWSKI; Lance JOHNSTON

    2006-01-01

    Objective:Genotype-phenotype associations were studied in 517 subjects clinically affected by classical neuronal ceroid lipofuscinosis (NCL). Methods:Genetic loci CLN1-3 were analyzed in regard to age of onset, initial neurological symptoms, and electron microscope (EM) profiles. Results: The most common initial symptom leading to a clinical evaluation was developmental delay (30%) in NCL1, seizures (42.4%) in NCL2, and vision problems (53.5%) in NCL3. Eighty-two percent of NCL1 cases had granular osmiophilic deposits (GRODs) or mixed-GROD-containing EM profiles; 94% of NCL2 cases had curvilinear (CV) or mixed-CV-containing profiles; and 91% of NCL3 had fingerprint (FP) or mixed-FP-containing profiles. The mixed-type EM profile was found in approximately one-third of the NCL cases. DNA mutations within a specific CLN gene were further correlated with NCL phenotypes. Seizures were noticed to associate with common mutations 523G>A and 636C>T of CLN2 in NCL2 but not with common mutations 223G>A and 451C>T of CLN1 in NCL1. Vision loss was the initial symptom in all types of mutations in NCL3. Surprisingly, our data showed that the age of onset was atypical in 51.3% of NCL1 (infantile form) cases, 19.7% of NCL2 (late-infantile form) cases, and 42.8% of NCL3 (juvenile form) cases.Conclusion:Our data provide an overall picture regarding the clinical recognition of classical childhood NCLs. This may assist in the prediction and genetic identification of NCL1-3 via their characteristic clinical features.

  7. Lipofuscinose ceróide neuronal: achados clínicos e neurorradiológicos Neuronal ceroid lipofuscinosis: clinical and neuroradiological findings

    Directory of Open Access Journals (Sweden)

    Rômulo Lopes Gama

    2007-06-01

    Full Text Available Lipofuscinose ceróide neuronal (LCN constitui um grupo de doenças neurodegenerativas caracterizadas pelo depósito anormal de uma substância autofluorescente de lipopigmentos, que lembra ceróide e lipofuscina, dentro dos lisossomos dos neurônios e outros tipos de células. Os principais subtipos fenotípicos, baseando-se na idade de início, curso clínico e morfologia ultraestrutural, são classificados em formas infantil, infantil tardia, juvenil e adulta. Seis genes associados a lipofuscinose ceróide foram identificados e aproximadamente 150 mutações também são descritas. Relatamos sete pacientes com LCN baseados na história clínica, achados neurorradiológicos e patológicos avaliados na Rede Sarah de Hospitais de Reabilitação - Fortaleza - Ceará - Brasil. Cinco casos foram confirmados com biópsia de pele, sendo dois casos irmãos de pacientes confirmados. O diagnóstico precoce de LCN, uma doença com herança autossômica recessiva, é mandatório para aconselhamento genético e prevenção de outros casos na família. Os achados de imagem podem contribuir no diagnóstico diferencial.The neuronal ceroid lipofuscinoses (NCL are a group of neurodegenerative disorders, characterized by abnormal storage of an autofluorescent substance of lipopigments, resembling ceroid and lipofuscin, within lysosomes of neurons and other types of cells. The main phenotypic subtypes have been established on the basis of age of onset, clinical course, and ultra structural morphology, and classified as infantile, late infantile, juvenile and adult forms. Six genes have been associated with human NCL and approximately 150 mutations have been described. The aim of this study is to report the clinical, neuroradiological, and morphological characteristics of seven patients evaluated at Sarah Network of Hospitals for Reabilitation - Fortaleza - Ceará - Brazil. Five cases were histopathologically confirmed with skin biopsy and two were siblings of

  8. The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy

    Directory of Open Access Journals (Sweden)

    Kuronen Mervi

    2005-04-01

    Full Text Available Abstract Background The neuronal ceroid lipofuscinoses (NCLs are a group of inherited neurodegenerative disorders characterized by accumulation of autofluorescent material in many tissues, especially in neurons. Mutations in the CLN8 gene, encoding an endoplasmic reticulum (ER transmembrane protein of unknown function, underlie NCL phenotypes in humans and mice. The human phenotype is characterized by epilepsy, progressive psychomotor deterioration and visual loss, while motor neuron degeneration (mnd mice with a Cln8 mutation show progressive motor neuron dysfunction and retinal degeneration. Results We investigated spatial and temporal expression of Cln8 messenger ribonucleic acid (mRNA using in situ hybridization, reverse transcriptase polymerase chain reaction (RT-PCR and northern blotting. Cln8 is ubiquitously expressed at low levels in embryonic and adult tissues. In prenatal embryos Cln8 is most prominently expressed in the developing gastrointestinal tract, dorsal root ganglia (DRG and brain. In postnatal brain the highest expression is in the cortex and hippocampus. Expression of Cln8 mRNA in the central nervous system (CNS was also analyzed in the hippocampal electrical kindling model of epilepsy, in which Cln8 expression was rapidly up-regulated in hippocampal pyramidal and granular neurons. Conclusion Expression of Cln8 in the developing and mature brain suggests roles for Cln8 in maturation, differentiation and supporting the survival of different neuronal populations. The relevance of Cln8 up-regulation in hippocampal neurons of kindled mice should be further explored.

  9. Neuronal ceroid-lipofuscinosis, a type of amaurotic family idiocy: clinical and pathological study of four cases Ceróide-lipofuscinose neuronal, um tipo de idiotia amaurótica familiar: estudo clínico-patológico de quatro casos

    Directory of Open Access Journals (Sweden)

    Luciano de Souza Queiroz

    1974-03-01

    Full Text Available Neuronal ceroid-lipofuscinosis (NCL is a recent term, proposed for acurate designation of the late-onset types of Amaurotic Family Idiocy (AFI. Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor for characterization of the entity at present time. Biochemical changes and pathogenesis are obscure. NCL is in contrast to the infantile type of AFI (Tay-Sachs disease, in which intraneuronal accumulation of gangliosides (sphingolipids is due to the well known deficiency of a lysosomal enzyme. The authors report on four cases of NCL, two brothers of the late infantile (Jansky-Bielschowsky type and a brother and a sister of the juvenile (Spielmeyer-Sjögren type. One autopsy and three cortical biopsies revealed moderate to severe distention of the neurons by lipopigment, with nerve cell loss, gliosis and cerebral atrophy. Lipopigment was also increased in liver, heart and spleen. The patients were the first in Brazilian literature in whom the storage material was identified as lipopigment by histochemical methods. A brief summary of the clinical features of NCL is presented, and relevant problems are discussed, concerning interpretation of the nature of the storage material, and significance of the disease for gerontological research.Estudos histoquímicos, bioquímicos e ultraestruturais permitiram recentemente distinguir dois tipos de entidades nosológicas dentre as doenças conhecidas como "Idiotia amaurótica familiar" (IAF. O primeiro, que inclue a doença de Tay-Sachs, ou tipo infantil de IAF, é constituido por doenças de armazenamento de gangliósides. Sua patogenia é conhecida, baseando-se em deficiências de enzimas lisossômicos. O segundo grupo, cuja patogenia é desconhecida, foi recentemente designado "Ceróide-lipofuscinose neuronal" (CLN por Zeman e colaboradores. Corresponde aos tipos infantil tardio, juvenil e adulto de IAF, caracterizando-se histopatologicamente pelo ac

  10. Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.

    Science.gov (United States)

    Hirz, M; Drögemüller, M; Schänzer, A; Jagannathan, V; Dietschi, E; Goebel, H H; Hecht, W; Laubner, S; Schmidt, M J; Steffen, F; Hilbe, M; Köhler, K; Drögemüller, C; Herden, C

    2017-03-01

    Neuronal ceroid lipofuscinoses (NCLs) are inherited lysosomal storage diseases that have been described in a variety of dog breeds, where they are caused by different mutations in different genes. However, the causative gene defect in the breed Alpenländische Dachsbracke remained unknown so far. Here we present two confirmed cases of NCL in Alpenländische Dachsbracke dogs from different litters of the same sire with a different dam harboring the same underlying novel mutation in the CLN8 gene. Case 1, a 2-year-old male Alpenländische Dachsbracke was presented with neurological signs including disorientation, character changes including anxiety states and aggressiveness, sudden blindness and reduction of food intake. Magnetic resonance imaging (MRI) scans showed cerebral atrophy with dilation of all cerebral ventricles, thinning of the intermediate mass of the thalamus and widening of the cerebral sulci. Postmortem examination of the central nervous system (CNS) showed neuronal loss in the cerebral cortex, cerebellum and spinal cord with massive intracellular deposits of ceroid pigment. Additional ceroid-lipofuscin deposits were observed in the enteric nervous system and in macrophages within spleen, lymph nodes and lung. Ultrastructural analyses confirmed NCL with the presence of osmiophilic membrane bounded lamellar-like structures. Case 2, a 1,5-year old female Alpenländische Dachsbracke was presented with progressive generalized forebrain disease including mental changes such as fearful reactions to various kinds of external stimuli and disorientation. The dog also displayed seizures, absence of menace reactions and negative cotton-ball test with normal pupillary light reactions. The clinical and post mortem examination yielded similar results in the brain as in Case 1. Whole genome sequencing of Case 1 and PCR results of both cases revealed a homozygous deletion encompassing the entire CLN8 gene as the most likely causative mutation for the NCL form

  11. A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry.

    Science.gov (United States)

    Guo, Juyuan; Johnson, Gary S; Brown, Holly A; Provencher, Michele L; da Costa, Ronaldo C; Mhlanga-Mutangadura, Tendai; Taylor, Jeremy F; Schnabel, Robert D; O'Brien, Dennis P; Katz, Martin L

    2014-08-01

    The neuronal ceroid lipofuscinoses (NCLs) are hereditary neurodegenerative diseases characterized by seizures and progressive cognitive decline, motor impairment, and vision loss accompanied by accumulation of autofluorescent lysosomal storage bodies in the central nervous system and elsewhere in the body. Mutations in at least 14 genes underlie the various forms of NCL. One of these genes, CLN8, encodes an intrinsic membrane protein of unknown function that appears to be localized primarily to the endoplasmic reticulum. Most CLN8 mutations in people result in a form of NCL with a late infantile onset and relatively rapid progression. A mixed breed dog with Australian Shepherd and Blue Heeler ancestry developed neurological signs characteristic of NCL starting at about 8months of age. The signs became progressively worse and the dog was euthanized at 21months of age due to seizures of increasing frequency and severity. Postmortem examination of the brain and retinas identified massive accumulations of intracellular autofluorescent inclusions characteristic of the NCLs. Whole genome sequencing of DNA from this dog identified a CLN8:c.585G>A transition that predicts a CLN8:p.Trp195* nonsense mutation. This mutation appears to be rare in both ancestral breeds. All of our 133 archived DNA samples from Blue Heelers, and 1481 of our 1488 archived Australian Shepherd DNA samples tested homozygous for the reference CLN8:c.585G allele. Four of the Australian Shepherd samples tested heterozygous and 3 tested homozygous for the mutant CLN8:c.585A allele. All 3 dogs homozygous for the A allele exhibited clinical signs of NCL and in 2 of them NCL was confirmed by postmortem evaluation of brain tissue. The occurrence of confirmed NCL in 3 of 4 CLN8:c.585A homozygous dogs, plus the occurrence of clinical signs consistent with NCL in the fourth homozygote strongly suggests that this rare truncating mutation causes NCL. Identification of this NCL-causing mutation provides the

  12. 一例晚期婴儿型神经元蜡样质脂褐素沉积病的临床、遗传和脑超微结构特点%Clinical, genetic and cerebral ultrastructural features of late infantile neuronal ceroid lipofuscinosis:a ease report

    Institute of Scientific and Technical Information of China (English)

    曾志涌; 易咏红; 廖卫平; 陆雪芬; 郝卓芳; 王玉良

    2009-01-01

    Objective To study the clinical, histopathological and inheritance features of late infantile neuronal ceroid lipofuscinosis (LINCL). Methods The clinical manifestations and family history of a 4-year-old girl with an established diagnosis of LINCL were investigated and the findings in EEG, magnetic resonance imaging (MRI) and histological examination were analyzed. Results EEG of the patient showed diffuse background slowing with bursts of generalized spike-and-wave discharges or polyspike-and-wave activity. Brain MRI for her and her brother revealed brain atrophy, especially diffuse cerebellar atrophy. Histopathological examination also showed diffuse damages in the gray matter where numerous degenerated and atrophic neurons were found. Some immature neurons occurred in the disrupted cortical lamination. Electron microscopy revealed numerous osmiophilic granular lipofuscin inclusions in the cytoplasm of the neurons. Conclusion This patient presented with typical clinical and cerebellar ultrastructural features of LINCL, but the inheritance characteristics of the patient and the prominent lipofuscin pigments in the neurons suggest a case of new LINCL variant.%目的 通过分析1例晚期婴儿型神经元蜡样质脂褐素沉积病(LINCL)病例.探讨LINCL的临床、遗传和病理特点. 方法 收集1例L1NCL患者的临床表现、家族史资料,并对其脑电图(EEG)、影像学和脑组织病理活检结果进行分析. 结果 EEG显示弥漫背景脑电慢化,间歇期阵发全面性棘慢波及尖慢波节律.头颅MRI检查发现患儿及其胞兄脑萎缩尤以小脑萎缩明显.脑组织活检光镜下见大脑皮层弥漫性损害,可见变性、萎缩和未成熟神经元.变性及萎缩的神经元内可见嗜银颗粒沉积,电镜下神经元胞浆中可见大量脂褐素样结构. 结论 此例患者的临床和病理改变符合LINCL的诊断,但其特殊的家族遗传史及病理特征提示其可能为新的LINCL变异型.

  13. 神经元蜡样脂褐质沉积病五例的临床表现、基因与超微病理特点%Clinical, genetic and pathological features of neuronal ceroid lipofuscinosis in 5 Chinese patients

    Institute of Scientific and Technical Information of China (English)

    任守臣; 高宝勤; 王雅洁; 武小娟; 田朝霞; 孙异临

    2016-01-01

    目的 报道5例神经元蜡样脂褐质沉积病的临床表现、基因和超微病理改变特点.方法 收集首都医科大学附属北京天坛医院儿科2013至2015年期间就诊的5例临床拟诊为神经元蜡样脂褐质沉积病患者,对4例患者及其父母提取外周血DNA,检测9个相关基因,3例行皮肤活检电镜检查.结果 基因检测见1例MFSD8 1153G>C的纯合突变,1例CLN5内含子区321-1G>A剪切位点的纯合突变,1例为CLN6 407 G>A和307C>T的复合杂合突变,其中MFSD8 1153G>C、CLN5 321-1G>A和CLN6 407G>A为新发现的变异,3例患者的父母均为杂合子.1例基因检测未见异常.电镜检查示例1和例3见指纹体和嗜锇颗粒,例5见线样体和嗜锇颗粒.结论 由MFSD8、CLN5和CLN6变异引起的神经元蜡样脂褐质沉积病在国内为首先报告;该病的基因型与临床表现有一定相关性;组织病理检查仍是确诊该病的金标准.%Objective To report the clinical,genetic and ultrastructural pathological features of neuronal ceroid lipofuscinosis (NCLs) in 5 Chinese patients.Methods A total of 5 patients with NCLs were collected from 2013 to 2015 diagnosed by the department of pediatrics of Beijing Tian Tan Hospital.Their clinical,electrophysiological and neuroimaging data of the patients were reviewed.A total of 9 underlying genes of NCLs were tested in 4 cases and their parents.Ultrastructural pathology by skin biopsy was performed in 3 cases respectively.Results We identified two novel homozygous mutations and one novel heterozygous pathogenic mutation in 3 patients.The confirmed mutations included c.1153G > C (p.Gly385Arg) MFSD8 homozygous mutation,c 321-1G > A CLN5 intron splice site homozygous mutation and c 407G > A (p.Arg136His)CLN6 heterozygous mutation,which had never been reported before.While no gene mutation was detected in the rest 1 case.Among the 3 cases received electron microscope testing of skin biopsy,2 presented with fingerprint

  14. A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571 + 1G >>> A) leading to excision of exon 3

    NARCIS (Netherlands)

    T. Frugier (Tony); N.L. Mitchell (Nadia); I. Tammen (Imke); P.J. Houweling (Peter); D.G. Arthur (Donald); G.W. Kay (Graham); O.P. van Diggelen (Otto); R.D. Jolly (Robert); D.N. Palmer (David)

    2008-01-01

    textabstractBatten disease (neuronal ceroid lipofuscinoses, NCLs) are a group of inherited childhood diseases that result in severe brain atrophy, blindness and seizures, leading to premature death. To date, eight different genes have been identified, each associated with a different form. Linkage a

  15. Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5.

    Science.gov (United States)

    Gilliam, D; Kolicheski, A; Johnson, G S; Mhlanga-Mutangadura, T; Taylor, J F; Schnabel, R D; Katz, M L

    2015-01-01

    We studied a recessive, progressive neurodegenerative disease occurring in Golden Retriever siblings with an onset of signs at 15 months of age. As the disease progressed these signs included ataxia, anxiety, pacing and circling, tremors, aggression, visual impairment and localized and generalized seizures. A whole genome sequence, generated with DNA from one affected dog, contained a plausibly causal homozygous mutation: CLN5:c.934_935delAG. This mutation was predicted to produce a frameshift and premature termination codon and encode a protein variant, CLN5:p.E312Vfs*6, which would lack 39 C-terminal amino acids. Eighteen DNA samples from the Golden Retriever family members were genotyped at CLN5:c.934_935delAG. Three clinically affected dogs were homozygous for the deletion allele; whereas, the clinically normal family members were either heterozygotes (n = 11) or homozygous for the reference allele (n = 4). Among archived Golden Retrievers DNA samples with incomplete clinical records that were also genotyped at the CLN5:c.934_935delAG variant, 1053 of 1062 were homozygous for the reference allele, 8 were heterozygotes and one was a deletion-allele homozygote. When contacted, the owner of this homozygote indicated that their dog had been euthanized because of a neurologic disease that progressed similarly to that of the affected Golden Retriever siblings. We have collected and stored semen from a heterozygous Golden Retriever, thereby preserving an opportunity for us or others to establish a colony of CLN5-deficient dogs.

  16. A central role for TOR signalling in a yeast model for juvenile CLN3 disease

    Directory of Open Access Journals (Sweden)

    Michael E. Bond

    2015-11-01

    Full Text Available Yeasts provide an excellent genetically tractable eukaryotic system for investigating the function of genes in their biological context, and are especially relevant for those conserved genes that cause disease. We study the role of btn1, the orthologue of a human gene that underlies an early onset neurodegenerative disease (juvenile CLN3 disease, neuronal ceroid lipofuscinosis (NCLs or Batten disease in the fission yeast Schizosaccharomyces pombe. A global screen for genetic interactions with btn1 highlighted a conserved key signalling hub in which multiple components functionally relate to this conserved disease gene. This signalling hub includes two major mitogen-activated protein kinase (MAPK cascades, and centers on the Tor kinase complexes TORC1 and TORC2. We confirmed that yeast cells modelling CLN3 disease exhibit features consistent with dysfunction in the TORC pathways, and showed that modulating TORC function leads to a comprehensive rescue of defects in this yeast disease model. The same pathways may be novel targets in the development of therapies for the NCLs and related diseases.

  17. Efficacy of phosphodiesterase‐4 inhibitors in juvenile Batten disease (CLN3)

    Science.gov (United States)

    Aldrich, Amy; Bosch, Megan E.; Fallet, Rachel; Odvody, Jessica; Burkovetskaya, Maria; Rama Rao, Kakulavarapu V.; Cooper, Jonathan D.; Drack, Arlene V.

    2016-01-01

    Objective Juvenile neuronal ceroid lipofuscinosis (JNCL), or juvenile Batten disease, is a pediatric lysosomal storage disease caused by autosomal recessive mutations in CLN3, typified by blindness, seizures, progressive cognitive and motor decline, and premature death. Currently, there is no treatment for JNCL that slows disease progression, which highlights the need to explore novel strategies to extend the survival and quality of life of afflicted children. Cyclic adenosine monophosphate (cAMP) is a second messenger with pleiotropic effects, including regulating neuroinflammation and neuronal survival. Here we investigated whether 3 phosphodiesterase‐4 (PDE4) inhibitors (rolipram, roflumilast, and PF‐06266047) could mitigate behavioral deficits and cell‐specific pathology in the Cln3Δex7/8 mouse model of JNCL. Methods In a randomized, blinded study, wild‐type (WT) and Cln3Δex7/8 mice received PDE4 inhibitors daily beginning at 1 or 3 months of age and continuing for 6 to 9 months, with motor deficits assessed by accelerating rotarod testing. The effect of PDE4 inhibitors on cAMP levels, astrocyte and microglial activation (glial fibrillary acidic protein and CD68, respectively), lysosomal pathology (lysosomal‐associated membrane protein 1), and astrocyte glutamate transporter expression (glutamate/aspartate transporter) were also examined in WT and Cln3Δex7/8 animals. Results cAMP levels were significantly reduced in the Cln3Δex7/8 brain, and were restored by PF‐06266047. PDE4 inhibitors significantly improved motor function in Cln3Δex7/8 mice, attenuated glial activation and lysosomal pathology, and restored glutamate transporter expression to levels observed in WT animals, with no evidence of toxicity as revealed by blood chemistry analysis. Interpretation These studies reveal neuroprotective effects for PDE4 inhibitors in Cln3Δex7/8 mice and support their therapeutic potential in JNCL patients. Ann Neurol 2016;80:909–923 PMID:27804148

  18. Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features

    Directory of Open Access Journals (Sweden)

    Rossana L. Sanchez

    2016-12-01

    Conclusions: and Importance: Pathogenic variants in CLN8 account for the retinitis pigmentosa and seizures in our patients however, currently, they do not have regression or neurocognitive decline. The presentation of NCL can be very diverse and it is important for ophthalmologists to consider this in the differential diagnosis of retinal disorders with seizures or other neurological features. Molecular genetic testing of multiple genes causing isolated and syndromic eye disorders using NGS panels and aCGH along with additional complementary testing may often be required to arrive at a definitive diagnosis.

  19. MRI findings in childhood with neuronal ceroid lipofuscinosis%儿童神经元蜡样质脂褐素增多病的MRI诊断

    Institute of Scientific and Technical Information of China (English)

    肖江喜; 高莉; 周元春; 蒋学祥

    2003-01-01

    目的分析不同类型神经元蜡样质脂褐素增多病(NCL)的MRI特征和诊断价值.方法搜集6例经病理证实的NCL病例,其中2例为婴儿型(INCL),2例为晚期婴儿型(LINCL),2例为青少年型(JNCL);6例正常儿童作对照组.所有病例均做MR检查.结果 (1)脑萎缩:2例INCL均表现为明显大脑萎缩,2例LINCL和2例JNCL均表现为明显小脑萎缩; 2例JNCL同时表现为轻度大脑萎缩.(2)脑白质T2WI上信号改变:6例病人中2例 INCL和2例LINCL的半卵圆中心有稍高信号;2例 INCL、2例LINCL 和1例JNCL的侧脑室前角有稍高信号.(3)灰质核团T2WI上信号改变: 除1例JNCL外,余5例患儿的丘脑呈低信号,2例LINCL双侧壳核和苍白球呈明显低信号.对照组6例均无异常.结论 MRI能敏感地发现NCL的早期改变,并对NCL的诊断和分型提供帮助.

  20. The paediatric rheumatologist and orphan disease - a story without happy ending.

    Science.gov (United States)

    Roszkiewicz, Justyna; Biernacka-Zielińska, Małgorzata; Smolewska, Elżbieta

    2016-01-01

    Orphan diseases are not a common challenge in the everyday practice of the rheumatologist. Despite their extremely rare occurrence one of the patients under our care developed one of them - neuronal ceroid lipofuscinosis, the most frequent neurodegenerative disease observed in the paediatric population. We report a case of 2-year-old girl diagnosed with oligoarticular form of juvenile idiopathic arthritis treated in our Department with steroids and methotrexate and staying in the stage of disease remission. During routine checkups at Outpatient Clinic we observed progressive deterioration of girls neurological condition resulting in ataxia, gait disturbances with no rheumatological cause behind and speech impairment. The appearance of the symptoms was accompanied by frequent episodes of epileptic seizures, with little clinical improvement on combined antiepileptic treatment. Magnetic resonance imaging that we performed showed a picture highly suggestive of neuronal ceroid lipofuscinosis - atrophy of the patients cerebrum and cerebellum. Genetic testing conducted resulted in the diagnosis of late infantile neuronal ceroid lipofuscinosis (LINCL).

  1. Dicty_cDB: VFH286 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available gy vs Protein Score E Sequences producing significant alignments: (bits) Value (Q553W9) RecName: Full=Ceroid-lipofuscinosis...( BC025487 |pid:none) Mus musculus ceroid-lipofuscinosis... 79 2e-13 AK075109_1( AK075109 |pid:none) Homo sa.... 77 9e-13 (Q1ZYR0) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;... 77... 9e-13 (Q5JZQ9) Ceroid-lipofuscinosis neuronal protein 5 precursor (Pro... 77 9e-13 (A2TJ54) RecName: Full=Ceroid-lipofuscinosis

  2. Dicty_cDB: VFJ281 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available omology vs Protein Score E Sequences producing significant alignments: (bits) Value (Q553W9) RecName: Full=Ceroid-lipofuscinosis...487_1( BC025487 |pid:none) Mus musculus ceroid-lipofuscinosis... 94 7e-18 AK07510...s familiaris CLN5 (CLN5) gene,... 90 1e-16 (Q5JZQ9) Ceroid-lipofuscinosis neuronal protein 5 precursor (Pro...... 90 1e-16 (Q1ZYR0) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;... 89 1e-16 (A2TJ54) RecName: Full=Ceroid-lipofuscinosis

  3. BATTEN-DISEASE GENE, CLN3 - LINKAGE DISEQUILIBRIUM MAPPING IN THE FINNISH POPULATION, AND ANALYSIS OF EUROPEAN HAPLOTYPES

    NARCIS (Netherlands)

    MITCHISON, HM; ORAWE, AM; TASCHNER, PEM; SANDKUIJL, LA; SANTAVUORI, P; DEVOS, N; BREUNING, MH; MOLE, SE; GARDINER, RM; JARVELA, IE

    The gene for Batten disease (juvenile-onset neuronal ceroid lipofuscinosis, or Spielmeyer-Sjogren disease), CLN3, maps to 16p11.2-12.1. Four microsatellite markers-D16S288, D16S299, D16S298, and SPN-are in strong linkage disequilibrium with CLN3 in 142 families from 16 different countries. These

  4. Dicty_cDB: FC-AD10 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available gnments: (bits) Value (Q553W9) RecName: Full=Ceroid-lipofuscinosis neuronal prote...2; Flags: Precursor; 70 9e-11 (Q1ZYR0) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;... 69 2e-10 A...Canis familiaris CLN5 (CLN5) gene,... 66 2e-09 (Q5JZQ9) Ceroid-lipofuscinosis neuronal protein 5 precursor (

  5. Dicty_cDB: SLE504 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available e (Q553W9) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5 ... 467 e-130 AC116305_28( AC116305 |pid:n...olfactory ... 103 8e-21 BC025487_1( BC025487 |pid:none) Mus musculus ceroid-lipofuscinosis... sapiens cDNA FLJ90628 fis, cl... 100 5e-20 (Q1ZYR0) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;

  6. Dicty_cDB: SSG340 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available gnificant alignments: (bits) Value (Q553W9) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5 ... 470 e...d:none) Mus musculus ceroid-lipofuscinosis... 105 2e-21 AF068227_1( AF068227 |pid:none) Homo sapiens putativ...YR0) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;... 100 6e-20 AY885123_1( AY885123 |pid:none) Ca...nis familiaris CLN5 (CLN5) gene,... 99 1e-19 (Q5JZQ9) Ceroid-lipofuscinosis neuronal protein 5 precursor (Pr

  7. Dicty_cDB: SSL338 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available t alignments: (bits) Value (Q553W9) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5 ... 158 9e-38 AC1...id:none) Canis familiaris CLN5 (CLN5) gene,... 44 0.003 (Q1ZYR0) RecName: Full=Ceroid-lipofuscinosis... neuronal protein 5;... 44 0.003 (A2TJ54) RecName: Full=Ceroid-lipofuscinosis neuronal pr...otein 5;... 44 0.003 BC025487_1( BC025487 |pid:none) Mus musculus ceroid-lipofuscinosis... 44 0.003 protein

  8. Dicty_cDB: SLD812 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available e (Q553W9) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5 ... 169 3e-41 AC116305_28( AC116305 |pid:n..._1( BC025487 |pid:none) Mus musculus ceroid-lipofuscinosis... 65 9e-10 AK075109_1( AK075109 |pid:none) Homo ...... 63 4e-09 (Q5JZQ9) Ceroid-lipofuscinosis neuronal protein 5 precursor (Pro... ...63 4e-09 (Q1ZYR0) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;... 62 8e-09 protein update 2009. 6

  9. Dicty_cDB: SSB231 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available otein Score E Sequences producing significant alignments: (bits) Value (Q553W9) RecName: Full=Ceroid-lipofuscinosis...87 |pid:none) Mus musculus ceroid-lipofuscinosis... 76 3e-13 AK075109_1( AK075109 |pid:none) Homo sapiens cD...12 (Q1ZYR0) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;... 74 1e-12 (Q5JZQ9) Ceroid-lipofuscin...osis neuronal protein 5 precursor (Pro... 74 1e-12 (A2TJ54) RecName: Full=Ceroid-lipofuscinosis

  10. Dicty_cDB: VFC480 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available e (Q553W9) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5 ... 532 e-150 A...C116305_28( AC116305 |pid:none) Dictyostelium discoideum chromoso... 306 5e-82 (Q1ZYR0) RecName: Full=Ceroid-lipofuscinosis...( BC025487 |pid:none) Mus musculus ceroid-lipofuscinosis... 94 1e-17 AK075109_1( ...iliaris CLN5 (CLN5) gene,... 93 1e-17 (Q5JZQ9) Ceroid-lipofuscinosis neuronal protein 5 precursor (Pro... 93

  11. Dicty_cDB: VFG895 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available its) Value (Q553W9) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5 ... 340 e-159 AC116305_28( AC1163...tive transmembran... 91 1e-16 BC025487_1( BC025487 |pid:none) Mus musculus ceroid-lipofuscinosis... 91 1e-16...ne) Canis familiaris CLN5 (CLN5) gene,... 87 1e-15 (Q5JZQ9) Ceroid-lipofuscinosis... &... 67 1e-15 (Q1ZYR0) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;... 86 2e-15 protein update 2

  12. 神经元腊样质脂褐素沉积病的临床和影像学特点%The clinical and neuroimaging features of neuronal ceroid lipofuscinosis

    Institute of Scientific and Technical Information of China (English)

    姚生; 毕鸿雁; 吕鹤; 张巍; 王朝霞; 肖江喜; 袁云

    2006-01-01

    目的探讨神经元腊样质脂褐素沉积病(NCL)的临床表现规律和影像学特点.方法回顾分析我院经病理检查确诊的11例NCL患者的临床和影像学资料,对比分析国内报道的15例同类型NCL的临床和影像学资料.结果26例患者中青少年型NCL 12例,占46%,3~15岁发病,首发症状多为智力减退或癫癎发作.晚期婴儿型NCL 8例,占31%,1~7岁发病,首发症状表现为癫癎发作.婴儿型NCL 4例,占15%,出生后4~9个月发病,首发症状表现为智能和运动发育停滞.成年型NCL 2例,占8%,26及32岁发病,以痴呆和精神异常为首发症状.磁共振成像(MRI)特点主要表现为弥漫性脑萎缩,部分患者伴随白质损害,婴儿型和晚期婴儿型NCL出现丘脑改变.结论NCL患者的发病类型以青少年型为主,不同类型的NCL临床症状及出现顺序各异,影像学改变类似,婴儿型及晚发婴儿型伴丘脑损害.

  13. 婴儿型神经元蜡样质脂褐素沉积病的MRI表现及磁共振波谱特征%Features of MRI and Proton MR Spectroscopy in Infantile Neuronal Ceroid Lipofuscinosis

    Institute of Scientific and Technical Information of China (English)

    任爱军; 黄敏华; 郭勇; 林伟; 谢伟斌

    2009-01-01

    目的 分析婴儿型神经元蜡样质脂褐素沉积病(INCL)的MRI表现及磁共振波谱特征.方法 对2例经病理证实的婴儿型神经元蜡样质脂褐素沉积病患儿和2例健康对照儿童行磁共振平扫和磁共振波谱检查.分析各种影像表现及各种代谢物如N-乙酰天门冬氨酸(NAA) 、总肌酸(Cr) 、胆碱复合物(Cho)、肌醇(mi)、乳酸(lac)等的谱线特点.结果 2例患儿显示广泛的脑萎缩表现,以大脑最为明显,并进行性发展.T2WI大脑半球白质异常高信号,侧脑室旁白质最为明显.2例患儿都见T2WI双侧丘脑和基底节核团低信号.1例可见颅骨板障增厚.1H-MRS没有观测到NAA峰,Cho、Cr水平降低,mi水平明显增高,1.32 ppm处见倒置双峰.结论 MRI和1H-MRS有助于INCL的诊断,并可以评价疾病的严重程度、监测病情变化.

  14. Dificuldades no diagnóstico clínico e eletrencefalográfico de lipofuscinose ceróide neuronal Pitfalls in the clinical and electroencephalographic diagnosis of ceroid lipofuscinosis

    OpenAIRE

    Cleurecy Oliveira Vasques; Rosa Maria Figueiredo Valério; Umbertina Conti Reed; Rosi Mary Grossman; Fernando Kok

    2005-01-01

    Tradicionalmente, as lipofuscinoses ceróides neuronais (LCN) eram classificadas de acordo com a idade de início e características clínicas em quatro grandes grupos. Recentemente, os estudos genéticos possibilitaram uma classificação mais pormenorizada dessa entidade em oito formas, permitindo o diagnóstico mais preciso de casos previamente considerados atípicos. Por outro lado, foi demonstrado que mutações de um mesmo gene poderiam ser responsáveis por grande variedade de fenótipos clínicos. ...

  15. 儿童神经元蜡样质脂褐素沉积病的MRI及MRS表现%Manifestations of MR Imaging and Proton MR Spectroscopy of Neuronal Ceroid Lipofuscinosis in Children

    Institute of Scientific and Technical Information of China (English)

    任爱军; 黄敏华; 郭勇; 林伟

    2010-01-01

    目的:分析婴儿型和晚期婴儿型神经元蜡样质脂褐素沉积病(NCL)的MRI、磁共振波谱(1H-MRS)表现.方法:对2例婴儿型和8例晚期婴儿型NCL患儿行磁共振平扫和磁共振波谱检查.总结分析各种特征性影像表现及N-乙酰天门冬氨酸(NAA)、总肌酸(Cr)、胆碱复合物(Cho)、NAA/Cr、Cho/Cr比值的变化规律.结果:10例患儿都表现为逐渐进展的脑萎缩,婴儿型以大脑萎缩为早期表现,晚期婴儿型以小脑萎缩为早期表现.2例婴儿型病例及病史4~5年的晚期婴儿型患儿可见大脑半球白质的异常高信号,脑室旁白质最为明显.婴儿型病例见双侧丘脑和基底节核团T2WI低信号.8例发现颅骨板障明显增厚.磁共振波谱显示随着病程延长,晚期婴儿型病例的NAA/Cr比值逐渐降低,Cho/Cr值未见明显变化.婴儿型病例未观测到NAA峰,Cho/Cr水平降低,肌醇(mi)水平明显增高.结论:MRI和1H-MRS可以敏感地发现婴儿型和晚期婴儿型患儿脑内的异常改变,有助于NCL的诊断和分型,并可以评价疾病的严重程度,监测病情变化.

  16. 晚期婴儿型神经元蜡样质脂褐素沉积病患者临床特点和基因改变%Clinical and genetic studies of late-infantile neuronal ceroid lipofuscinosis

    Institute of Scientific and Technical Information of China (English)

    毕鸿雁; 姚生; 栾兴华; 张巍; 赵亚明; 袁云

    2010-01-01

    目的 总结临床病理诊断为晚期婴儿型神经元蜡样质脂褐素沉积病(LINCL)患者的临床特点和基因改变.方法 总结分析9例LINCL患者(其中3例为文献报道的患者)的临床特点,并对其中4例患者进行CLN2基因检测.结果 癫痫是我国LINCL患者最主要的首发临床症状,其发作表现形式多样.CLN2基因检查结果显示,在两例患者分别发现位于第3内含子的IVS3-1G→A剪接突变和第6外显子的G217V杂合突变以及第13外显子的S538Y纯合突变,上述突变均为文献尚未报道过的新突变,在50名健康人中未发现这些基因突变.另两例患者CLN2基因检查正常.结论 我国LINCL患者癫痫发作具有多种表现形式,肌阵挛癫痫不常见.我国CLN2基因的突变类型与其他国家或地区可能不同,也可能存在新的基因.

  17. The clinical and pathological features of adult neuronal ceroid lipofuscinosis%成年型神经元蜡样质脂褐质沉积症的临床和病理特征

    Institute of Scientific and Technical Information of China (English)

    张宁; 李国良; 杨晓苏; 肖波; 刘尊敬; 李静; 梁静慧

    2003-01-01

    目的报道2例成年型神经元蜡样质脂褐质沉积症(ANCL)临床特点和病理改变.方法综合分析临床资料和病理结果.结果患者临床表现为智能障碍、肌阵挛、运动障碍、行为异常及锥体外系症状.电镜下可见神经元及胶质细胞胞浆内有大量脂褐素体沉积.结论根据起病年龄、临床表现及超微结构特征可诊断为成年型神经元蜡样质脂褐质沉积症,脑活检电镜检查是确诊本病的可靠方法.

  18. A Novel Role for Integrin Linked Kinase in Breast Cancer

    Science.gov (United States)

    2004-09-01

    in a lysosomal protein with a classical late-infantile neuronal ceroid lipofuscinosis . Science 277: 1802-1805, 1997. 24. Hannigan, G.E., Bayani, J...alleles is associated with testicular classical late-infantile neuronal ceroid lipofuscinosis . Science 1997: cancer tumors. Genomics 1989:5:134-8

  19. Dicty_cDB: SFJ661 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available lue (Q553W9) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5 ... 306 e-148 AC116305_28( AC116305 |pid...e olfactory ... 86 2e-15 BC025487_1( BC025487 |pid:none) Mus musculus ceroid-lipofuscinosis...is familiaris CLN5 (CLN5) gene,... 82 3e-14 (Q5JZQ9) Ceroid-lipofuscinosis neuronal protein 5 precursor (Pro...... 82 3e-14 (Q1ZYR0) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;... ...81 7e-14 (A2TJ54) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;... 81 7e-14 protein update 2009. 7

  20. Dicty_cDB: VFL220 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available Q553W9) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5 ... 360 2e-98 AC116305_28( AC116305 |pid:none...ctory ... 99 2e-19 BC025487_1( BC025487 |pid:none) Mus musculus ceroid-lipofuscinosis... 99 2e-19 AK075109_1...AY885123 |pid:none) Canis familiaris CLN5 (CLN5) gene,... 95 2e-18 (Q5JZQ9) Ceroid-lipofuscinosis neuronal p...rotein 5 precursor (Pro... 95 2e-18 (Q1ZYR0) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;... 95 3...e-18 (A2TJ54) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;... 94 4e-18 protein update 2009. 6.23

  1. Dicty_cDB: VHL857 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available (Q553W9) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5 ... 523 e-147 AC116305_28( AC116305 |pid:no...) Mus musculus adult male olfactory ... 104 5e-21 BC025487_1( BC025487 |pid:none) Mus musculus ceroid-lipofuscinosis...09_1( AK075109 |pid:none) Homo sapiens cDNA FLJ90628 fis, cl... 100 7e-20 (Q1ZYR0) RecName: Full=Ceroid-lipofuscinosis... familiaris CLN5 (CLN5) gene,... 99 2e-19 (Q5JZQ9) Ceroid-lipofuscinosis neuronal protein 5 precursor (Pro...... 99 2e-19 (A2TJ54) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;... 98 5e-19 protein update 2009.

  2. Dicty_cDB: SSA660 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available E Sequences producing significant alignments: (bits) Value (Q553W9) RecName: Full=Ceroid-lipofuscinosis neu... gene,... 77 3e-13 (Q1ZYR0) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;... 77 3e-13 (Q5JZQ9) Ceroid-lipofuscinosis... neuronal protein 5 precursor (Pro... 77 3e-13 (A2TJ54) RecName: Full=Ceroid-lipofuscinosis...e) Mus musculus ceroid-lipofuscinosis... 79 8e-14 AK075109_1( AK075109 |pid:none) Homo sapiens cDNA FLJ90628...AF068227_1( AF068227 |pid:none) Homo sapiens putative transmembran... 79 8e-14 BC025487_1( BC025487 |pid:non

  3. The paediatric rheumatologist and orphan disease – a story without happy ending

    Science.gov (United States)

    Roszkiewicz, Justyna; Biernacka-Zielińska, Małgorzata

    2016-01-01

    Orphan diseases are not a common challenge in the everyday practice of the rheumatologist. Despite their extremely rare occurrence one of the patients under our care developed one of them – neuronal ceroid lipofuscinosis, the most frequent neurodegenerative disease observed in the paediatric population. We report a case of 2-year-old girl diagnosed with oligoarticular form of juvenile idiopathic arthritis treated in our Department with steroids and methotrexate and staying in the stage of disease remission. During routine checkups at Outpatient Clinic we observed progressive deterioration of girls neurological condition resulting in ataxia, gait disturbances with no rheumatological cause behind and speech impairment. The appearance of the symptoms was accompanied by frequent episodes of epileptic seizures, with little clinical improvement on combined antiepileptic treatment. Magnetic resonance imaging that we performed showed a picture highly suggestive of neuronal ceroid lipofuscinosis – atrophy of the patients cerebrum and cerebellum. Genetic testing conducted resulted in the diagnosis of late infantile neuronal ceroid lipofuscinosis (LINCL). PMID:27504025

  4. Dicty_cDB: SSC271 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available R0) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;... 45 0.001 AC116305_..... 42 0.021 (Q5JZQ9) Ceroid-lipofuscinosis neuronal protein 5 precursor (Pro... 4...2 0.021 (A2TJ54) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;... 39 0.13 AK032293_1( AK032293 |pi...n Score E Sequences producing significant alignments: (bits) Value (Q553W9) RecName: Full=Ceroid-lipofusci...nosis neuronal protein 5 ... 342 6e-93 (Q86JG6) RecName: Full=Cln5-like protein 1;

  5. A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses

    Energy Technology Data Exchange (ETDEWEB)

    Salek, Reza M.; Pears, Michael R. [University of Cambridge, Department of Biochemistry and Cambridge Systems Biology Centre (United Kingdom); Cooper, Jonathan D. [King' s College London, Pediatric Storage Disorders Laboratory, Department of Neuroscience, Institute of Psychiatry (United Kingdom); Mitchison, Hannah M. [Royal Free and University College Medical School, Department of Paediatrics and Child Health (United Kingdom); Pearce, David A. [Sanford School of Medicine of the University of South Dakota, Department of Pediatrics (United States); Mortishire-Smith, Russell J. [Johnson and Johnson PR and D (Belgium); Griffin, Julian L., E-mail: jlg40@mole.bio.cam.ac.uk [University of Cambridge, Department of Biochemistry and the Cambridge Systems Biology Centre (United Kingdom)

    2011-04-15

    The Neuronal Ceroid Lipofuscinoses (NCL) are a group of fatal inherited neurodegenerative diseases in humans distinguished by a common clinical pathology, characterized by the accumulation of storage body material in cells and gross brain atrophy. In this study, metabolic changes in three NCL mouse models were examined looking for pathways correlated with neurodegeneration. Two mouse models; motor neuron degeneration (mnd) mouse and a variant model of late infantile NCL, termed the neuronal ceroid lipofuscinosis (nclf) mouse were investigated experimentally. Both models exhibit a characteristic accumulation of autofluorescent lipopigment in neuronal and non neuronal cells. The NMR profiles derived from extracts of the cortex and cerebellum from mnd and nclf mice were distinguished according to disease/wildtype status. In particular, a perturbation in glutamine and glutamate metabolism, and a decrease in {gamma}-amino butyric acid (GABA) in the cerebellum and cortices of mnd (adolescent mice) and nclf mice relative to wildtype at all ages were detected. Our results were compared to the Cln3 mouse model of NCL. The metabolism of mnd mice resembled older (6 month) Cln3 mice, where the disease is relatively advanced, while the metabolism of nclf mice was more akin to younger (1-2 months) Cln3 mice, where the disease is in its early stages of progression. Overall, our results allowed the identification of metabolic traits common to all NCL subtypes for the three animal models.

  6. Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.

    Science.gov (United States)

    Poët, Mallorie; Kornak, Uwe; Schweizer, Michaela; Zdebik, Anselm A; Scheel, Olaf; Hoelter, Sabine; Wurst, Wolfgang; Schmitt, Anja; Fuhrmann, Jens C; Planells-Cases, Rosa; Mole, Sara E; Hübner, Christian A; Jentsch, Thomas J

    2006-09-12

    Mammalian CLC proteins function as Cl(-) channels or as electrogenic Cl(-)/H(+) exchangers and are present in the plasma membrane and intracellular vesicles. We now show that the ClC-6 protein is almost exclusively expressed in neurons of the central and peripheral nervous systems, with a particularly high expression in dorsal root ganglia. ClC-6 colocalized with markers for late endosomes in neuronal cell bodies. The disruption of ClC-6 in mice reduced their pain sensitivity and caused moderate behavioral abnormalities. Neuronal tissues showed autofluorescence at initial axon segments. At these sites, electron microscopy revealed electron-dense storage material that caused a pathological enlargement of proximal axons. These deposits were positive for several lysosomal proteins and other marker proteins typical for neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disease. However, the lysosomal pH of Clcn6(-/-) neurons appeared normal. CLCN6 is a candidate gene for mild forms of human NCL. Analysis of 75 NCL patients identified ClC-6 amino acid exchanges in two patients but failed to prove a causative role of CLCN6 in that disease.

  7. Dicty_cDB: Contig-U16182-1 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available : Precursor; &... 119 2e-25 (Q1ZYR0) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;... 119 4e-25 AF...) Canis familiaris CLN5 (CLN5) gene,... 116 2e-24 (Q5JZQ9) Ceroid-lipofuscinosis ...1( BC025487 |pid:none) Mus musculus ceroid-lipofuscinosis... 114 7e-24 (A2TJ54) RecName: Full=Ceroid-lipof...ein DDB_G0280785; 35 9.0 >(Q553W9) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5 homolog; Short=Pro.........................done Score E Sequences producing significant alignments: (bits) Value (Q553W9) RecName: Full=Ceroid-lipofuscino

  8. The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data.

    Science.gov (United States)

    Nugent, Timothy; Mole, Sara E; Jones, David T

    2008-04-02

    The CLN3 gene encodes an integral membrane protein of unknown function. Mutations in CLN3 can cause juvenile neuronal ceroid lipofuscinosis, or Batten disease, an inherited neurodegenerative lysosomal storage disease affecting children. Here, we report a topological study of the CLN3 protein using bioinformatic approaches constrained by experimental data. Our results suggest that CLN3 has a six transmembrane helix topology with cytoplasmic N and C-termini, three large lumenal loops, one of which may contain an amphipathic helix, and one large cytoplasmic loop. Surprisingly, varied topological predictions were made using different subsets of orthologous sequences, highlighting the challenges still remaining for bioinformatics.

  9. 婴儿型神经元蜡样质脂褐素沉积病棕榈酰蛋白硫酯酶1基因的二个新突变%Two novel mutations in palmitoyl-protein thioesterase gene in 2 Chinese babies with infantile neuronal ceroid lipofuscinosis

    Institute of Scientific and Technical Information of China (English)

    毕鸿雁; 姚生; 卜定方; 王朝霞; 张英; 秦炯; 杨艳玲; 袁云

    2006-01-01

    目的报告在2例婴儿型神经元蜡样质脂褐素沉积病中发现棕榈酰蛋白硫酯酶1(PPT1)基因2个新的突变.方法先证者1和2均在1岁以内出现进行性智能和运动发育倒退.病理检查诊断为婴儿型神经元蜡样质脂褐素沉积病.对先证者1和2以及前者的父母的PPT1基因编码区9个外显子及两旁的内含子序列设计引物进行PCR扩增,扩增产物测序检查.结果先证者1存在复合杂合突变,分别为第6外显子的c550G→A即E184K点突变和第1内含子的IVS1+1G→A剪接突变.其父亲在第1内含子也存在IVS1+1G→A杂合性剪接突变,其母存在E184K杂合性突变.先证者2存在纯合突变,在第3外显子出现c272A→C即Q91P突变.对50例正常人DNA进行突变筛查均未发现相同突变.结论PPT1基因在第1内含子的IVS1+1G→A剪接突变以及第3外显子的Q91P突变为2个以前没有报道的新突变,导致婴儿型神经元蜡样质脂褐素沉积病的发生.因此中国人的婴儿型神经元蜡样质脂褐素沉积病在PPT1基因的突变类型方面和其他地区的病例可能不完全相同.

  10. Dicty_cDB: FC-AG17 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available lags: Precursor; &... 69 1e-10 (Q1ZYR0) RecName: Full=Ceroid-lipofuscinosis neuronal protein 5;... 48 2e-04 ...amiliaris CLN5 (CLN5) gene,... 45 0.002 (Q5JZQ9) Ceroid-lipofuscinosis neuronal protein 5 precursor (Pro... ... 0.003 AK075109_1( AK075109 |pid:none) Homo sapiens cDNA FLJ90628 fis, cl... 44 0.003 (A2TJ54) RecName: Full=Ceroid-lipofuscinosis... Score E Sequences producing significant alignments: (bits) Value (Q553W9) RecName: Full=Ceroid-lipofuscin...osis neuronal protein 5 ... 347 2e-94 (Q86JG6) RecName: Full=Cln5-like protein 1; F

  11. Dicty_cDB: SSK458 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available mology vs Protein Score E Sequences producing significant alignments: (bits) Value (Q553W9) RecName: Full=Ceroid-lipofuscinosis...|pid:none) Canis familiaris CLN5 (CLN5) gene,... 66 9e-10 (Q5JZQ9) Ceroid-lipofuscinosis neuronal protein 5 ...rsor; &... 77 5e-13 (Q54WC3) RecName: Full=Cln5-like protein 2; Flags: Precursor; 70 8e-11 (Q1ZYR0) RecName: Full=Ceroid-lipofuscinos...is neuronal protein 5;... 69 1e-10 AY885123_1( AY885123

  12. Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci

    Energy Technology Data Exchange (ETDEWEB)

    Mitchison, H.M.; McKay, T.R. [Univ. College London Medical School (United Kingdom); Thompson, A.D.; Mulley, J.C.; Kozman, H.M.; Richards, R.I.; Callen, D.F. [Women and Children`s Hospital, Adelaide (Australia); Stallings, R.L.; Doggett, N.A. [Los Alamos National Lab., NM (United States); Attwood, J. [Galton Lab., London (United Kingdom)] [and others

    1993-05-01

    Batten disease, juvenile onset neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder characterized by accumulation of autofluorescent lipopigment in neurons and other cell types. The disease locus (CLN3) has previously been assigned to chromosome 16p. The genetic localization of CLN3 has been refined by analyzing 70 families using a high-resolution map of 15 marker loci encompassing the CLN3 region on 16p. Crossovers in three maternal meioses allowed localization of CLN3 to the interval between D16S297 and D16S57. Within that interval alleles at three highly polymorphic dinucleotide repeat loci (D16S288, D16S298, D16S299) were found to be in strong linkage disequilibrium with CLN3. Analysis of haplotypes suggests that a majority of CLN3 chromosomes have arisen from a single founder mutation. 15 refs., 2 figs., 5 tabs.

  13. Activation of Strychnine-Sensitive Glycine Receptors by Shilajit on Preoptic Hypothalamic Neurons of Juvenile Mice.

    Science.gov (United States)

    Bhattarai, Janardhan Prasad; Cho, Dong Hyu; Han, Seong Kyu

    2016-02-29

    Shilajit, a mineral pitch, has been used in Ayurveda and Siddha system of medicine to treat many human ailments, and is reported to contain at least 85 minerals in ionic form. This study examined the possible mechanism of Shilajit action on preoptic hypothalamic neurons using juvenile mice. The hypothalamic neurons are the key regulator of many hormonal systems. In voltage clamp mode at a holding potential of -60 mV, and under a high chloride pipette solution, Shilajit induced dose-dependent inward current. Shilajit-induced inward currents were reproducible and persisted in the presence of 0.5 μM tetrodotoxin (TTX) suggesting a postsynaptic action of Shilajit on hypothalamic neurons. The currents induced by Shilajit were almost completely blocked by 2 μM strychnine (Stry), a glycine receptor antagonist. In addition, Shilajit-induced inward currents were partially blocked by bicuculline. Under a gramicidin-perforated patch clamp mode, Shilajit induced membrane depolarization on juvenile neurons. These results show that Shilajit affects hypothalamic neuronal activities by activating the Stry-sensitive glycine receptor with α₂/α₂β subunit. Taken together, these results suggest that Shilajit contains some ingredients with possible glycine mimetic activities and might influence hypothalamic neurophysiology through activation of Stry-sensitive glycine receptor-mediated responses on hypothalamic neurons postsynaptically.

  14. Using Stem Cells to Model Diseases of the Outer Retina

    Directory of Open Access Journals (Sweden)

    Camille Yvon

    2015-01-01

    Full Text Available Retinal degeneration arises from the loss of photoreceptors or retinal pigment epithelium (RPE. It is one of the leading causes of irreversible blindness worldwide with limited effective treatment options. Generation of induced pluripotent stem cell (IPSC-derived retinal cells and tissues from individuals with retinal degeneration is a rapidly evolving technology that holds a great potential for its use in disease modelling. IPSCs provide an ideal platform to investigate normal and pathological retinogenesis, but also deliver a valuable source of retinal cell types for drug screening and cell therapy. In this review, we will provide some examples of the ways in which IPSCs have been used to model diseases of the outer retina including retinitis pigmentosa (RP, Usher syndrome (USH, Leber congenital amaurosis (LCA, gyrate atrophy (GA, juvenile neuronal ceroid lipofuscinosis (NCL, Best vitelliform macular dystrophy (BVMD and age related macular degeneration (AMD.

  15. Genetic Characterization of Movement Disorders and Dementias

    Science.gov (United States)

    2017-09-28

    Ataxia; Dystonia; Parkinson's Disease; Amyotrophic Lateral Sclerosis; Corticobasal Degeneration; Multiple System Atrophy; Alzheimer's Disease; Lewy Body Dementia; Parkinson Disease-Dementia; Dentatorubral-pallidoluysian Atrophy; Creutzfeldt-Jakob Disease and Fatal Familial Insomnia; Fragile X-associated Tremor/Ataxia Syndrome; Krabbe's Disease; Niemann-Pick Disease, Type C; Neuronal Ceroid Lipofuscinosis

  16. GenBank blastx search result: AK110394 [KOME

    Lifescience Database Archive (English)

    Full Text Available similar to human ceroid-lipofuscinosis, neuronal 2, late infantile(Jansky-Bielschowsky disease) (CLN2), mRNA, RefSeq: NM_000391.2.|PRI PRI 5e-22 +2 ... ...AK110394 002-165-E11 AB169876.1 Macaca fascicularis brain cDNA, clone: QflA-12618,

  17. Molecular Genetic Studies of Bone Mechanical Strain and of Pedigrees with Very High Bone Density

    Science.gov (United States)

    2005-06-01

    Transport genes Soluble carrier family 16 (monocarboxylic acid transporters) member 1 (Slc 1 6a1) Nuclear pore complex glycoprotein p62 Ceroid ... lipofuscinosis , neuronal 8 (Cln8) Connexin 31 Vacuolar ATPase subunit C Carbonic anhydrase 4 Bet3 homolog ATPase, H+ transporting, lysosmal (vacuolar proton

  18. Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.

    Directory of Open Access Journals (Sweden)

    Yi Cao

    Full Text Available Variant late-infantile neuronal ceroid lipofuscinosis (vLINCL, caused by CLN6 mutation, and juvenile neuronal ceroid lipofuscinosis (JNCL, caused by CLN3 mutation, share clinical and pathological features, including lysosomal accumulation of mitochondrial ATP synthase subunit c, but the unrelated CLN6 and CLN3 genes may initiate disease via similar or distinct cellular processes. To gain insight into the NCL pathways, we established murine wild-type and CbCln6(nclf/nclf cerebellar cells and compared them to wild-type and CbCln3(Δex7/8/Δex7/8 cerebellar cells. CbCln6(nclf/nclf cells and CbCln3(Δex7/8/Δex7/8 cells both displayed abnormally elongated mitochondria and reduced cellular ATP levels and, as cells aged to confluence, exhibited accumulation of subunit c protein in Lamp 1-positive organelles. However, at sub-confluence, endoplasmic reticulum PDI immunostain was decreased only in CbCln6(nclf/nclf cells, while fluid-phase endocytosis and LysoTracker® labeled vesicles were decreased in both CbCln6(nclf/nclf and CbCln3(Δex7/8/Δex7/8 cells, though only the latter cells exhibited abnormal vesicle subcellular distribution. Furthermore, unbiased gene expression analyses revealed only partial overlap in the cerebellar cell genes and pathways that were altered by the Cln3(Δex7/8 and Cln6(nclf mutations. Thus, these data support the hypothesis that CLN6 and CLN3 mutations trigger distinct processes that converge on a shared pathway, which is responsible for proper subunit c protein turnover and neuronal cell survival.

  19. Intravenous AAV9 efficiently transduces myenteric neurons in neonate and juvenile mice.

    Science.gov (United States)

    Gombash, Sara E; Cowley, Christopher J; Fitzgerald, Julie A; Hall, Jodie C E; Mueller, Christian; Christofi, Fedias L; Foust, Kevin D

    2014-01-01

    Gene therapies for neurological diseases with autonomic or gastrointestinal involvement may require global gene expression. Gastrointestinal complications are often associated with Parkinson's disease and autism. Lewy bodies, a pathological hallmark of Parkinson's brains, are routinely identified in the neurons of the enteric nervous system (ENS) following colon biopsies from patients. The ENS is the intrinsic nervous system of the gut, and is responsible for coordinating the secretory and motor functions of the gastrointestinal tract. ENS dysfunction can cause severe patient discomfort, malnourishment, or even death as in intestinal pseudo-obstruction (Ogilvie syndrome). Importantly, ENS transduction following systemic vector administration has not been thoroughly evaluated. Here we show that systemic injection of AAV9 into neonate or juvenile mice results in transduction of 25-57% of ENS myenteric neurons. Transgene expression was prominent in choline acetyltransferase positive cells, but not within vasoactive intestinal peptide or neuronal nitric oxide synthase cells, suggesting a bias for cells involved in excitatory signaling. AAV9 transduction in enteric glia is very low compared to CNS astrocytes. Enteric glial transduction was enhanced by using a glial specific promoter. Furthermore, we show that AAV8 results in comparable transduction in neonatal mice to AAV9 though AAV1, 5, and 6 are less efficient. These data demonstrate that systemic AAV9 has high affinity for peripheral neural tissue and is useful for future therapeutic development and basic studies of the ENS.

  20. Intravenous AAV9 Efficiently Transduces Myenteric Neurons in Neonate and Juvenile Mice

    Directory of Open Access Journals (Sweden)

    Sara Elizabeth Gombash

    2014-10-01

    Full Text Available Our recent discovery that adeno-associated virus type 9 (AAV9 can cross the blood brain barrier holds promise for the treatment of global neurological disease. Early studies with AAV9 gene therapy focused on transduction within the brain and spinal cord, but intravenous infusion results in widespread vector dissemination. Therapies for neurological diseases with autonomic or gastrointestinal involvement may require global gene expression. Gastrointestinal complications are often associated with Parkinson’s disease and autism. Lewy bodies, a pathological hallmark of Parkinson’s brains, are routinely identified in the neurons of the enteric nervous system (ENS following colon biopsies from patients. The ENS is the intrinsic nervous system of the gut, and is responsible for coordinating the secretory and motor functions of the gastrointestinal tract. ENS dysfunction can cause severe patient discomfort, malnourishment, or even death as in intestinal pseudo-obstruction (Ogilvie syndrome. Importantly, ENS transduction following systemic vector administration has not been thoroughly evaluated. Here we show that systemic injection of AAV9 into neonate or juvenile mice results in transduction of 25-57% of ENS myenteric neurons. Transgene expression was prominent in choline acetyltransferase positive cells, but not within vasoactive intestinal peptide or neuronal nitric oxide synthase cells, suggesting a bias for cells involved in excitatory signaling. AAV9 transduction in enteric glia is very low compared to CNS astrocytes. Enteric glial transduction was enhanced by using a glial specific promoter. Furthermore, we show that AAV8 results in comparable transduction to AAV9 though AAV1, 5 and 6 are less efficient. These data demonstrate that systemic AAV9 has high affinity for peripheral neural tissue and is useful for future therapeutic development and basic studies of the ENS. Transduction patterns for neurons and glia may differ between ENS and CNS.

  1. Progressive Retinal Degeneration and Accumulation of Autofluorescent Lipopigments in Progranulin Deficient Mice

    OpenAIRE

    Hafler, Brian P.; Klein, Zoe A.; Zhou, Z. Jimmy; Strittmatter, Stephen M.

    2014-01-01

    Prior investigations have shown that patients with neuronal ceroid lipofuscinosis (NCL) develop neurodegeneration characterized by vision loss, motor dysfunction, seizures, and often early death. Neuropathological analysis of patients with NCL shows accumulation of intracellular autofluorescent storage material, lipopigment, throughout neurons in the central nervous system including in the retina. A recent study of a sibling pair with adult onset NCL and retinal degeneration showed linkage to...

  2. Progressive retinal degeneration and accumulation of autofluorescent lipopigments in Progranulin deficient mice.

    Science.gov (United States)

    Hafler, Brian P; Klein, Zoe A; Jimmy Zhou, Z; Strittmatter, Stephen M

    2014-11-07

    Prior investigations have shown that patients with neuronal ceroid lipofuscinosis (NCL) develop neurodegeneration characterized by vision loss, motor dysfunction, seizures, and often early death. Neuropathological analysis of patients with NCL shows accumulation of intracellular autofluorescent storage material, lipopigment, throughout neurons in the central nervous system including in the retina. A recent study of a sibling pair with adult onset NCL and retinal degeneration showed linkage to the region of the progranulin (GRN) locus and a homozygous mutation was demonstrated in GRN. In particular, the sibling pair with a mutation in GRN developed retinal degeneration and optic atrophy. This locus for this form of adult onset neuronal ceroid lipofuscinosis was designated neuronal ceroid lipofuscinosis-11 (CLN11). Based on these clinical observations, we wished to determine whether Grn-null mice develop accumulation of autofluorescent particles and retinal degeneration. Retinas of both wild-type and Progranulin deficient mice were examined by immunostaining and autofluorescence. Accumulation of autofluorescent material was present in Progranulin deficient mice at 12 months. Degeneration of multiple classes of neurons including photoreceptors and retinal ganglion cells was noted in mice at 12 and 18 months. Our data shows that Grn(-/-) mice develop degenerative pathology similar to features of human CLN11.

  3. Developing Gene Silencing for the Study and Treatment of Dystonia

    Science.gov (United States)

    2016-10-01

    Gene Therapy for Hemophilia What other organizations were involved as partners? Nothing to Report. 8. SPECIAL REPORTING REQUIREMENTS. None 9. APPENDICES. None. 17 ...Dr. Davidson has the following changes to report: New Grants PICALM Gene Therapy Zlokovic (PI) 10/1/15-9/30/16 .48 cal months Cure...Davidson (PI) 07/01/12-06/30/16 .24 cal/months Advancing gene therapy for late infantile neuronal ceroid lipofuscinosis R21

  4. The Edinger-Westphal nucleus of the juvenile rat contains transient- and repetitive-firing neurons

    DEFF Research Database (Denmark)

    Laursen, M; Rekling, J C

    2006-01-01

    an immunohistochemical procedure directed at the peptide Urocortin, which is expressed in Edinger-Westphal neurons. Passive and active membrane responses were investigated and two different neuron types were identified. One type had a transient firing response to 400 ms depolarizing current pulses and one type had...

  5. Neuronal injury and cytogenesis after simple febrile seizures in the hippocampal dentate gyrus of juvenile rat.

    Science.gov (United States)

    Nazem, Amir; Jafarian, Amir Hossein; Sadraie, Seyed Homayoon; Gorji, Ali; Kheradmand, Hamed; Radmard, Mahla; Haghir, Hossein

    2012-11-01

    Although simple febrile seizures are frequently described as harmless, there is evidence which suggests that hippocampal damage may occur after simple febrile seizures. This study aimed to investigate possible neuronal damages as well as alterations in cytogenesis in the hippocampal dentate gyrus following simple febrile seizures. Simple febrile seizure was modeled by hyperthermia-induced seizures in 22-day-old male rats. The brains were removed 2 or 15 days after hyperthermia in all rats with (n=20) and without (n=10) occurrence of seizures as well as in control animals (n=10). The sections were stained with hematoxylin and eosin to estimate the surface numerical density of dark neurons. Ki-67 immunohistochemistry was performed to evaluate changes of cytogenesis following simple febrile seizures. Hyperthermia induced behavioral seizure activities in 67 % of the rats. The numerical densities of dark neurons as well as the mean Ki-67 index (the fraction of Ki-67-positive cells) were significantly increased in dentate gyrus after induction of seizures by hyperthermia compared to both controls and rats without seizure after hyperthermia. Both the seizure duration and intensity were correlated significantly with numerical densities of dark neurons (but not with Ki-67 index). The data indicate that simple febrile seizures can cause neuronal damages and enhancement of cytogenesis in the hippocampal dentate gyrus, which were still visible for at least 2 weeks. These findings also suggest the correlation of febrile seizure intensity and duration with neuronal damage.

  6. Phenol sulfotransferases: Candidate genes for Batten disease

    Energy Technology Data Exchange (ETDEWEB)

    Dooley, T.P.; Probst, P.; Obermoeller, R.D. [M.D. Anderson Cancer Center, Houston, TX (United States)] [and others

    1995-06-05

    Batten disease (juvenile-onset neuronal ceroid lipofuscinosis; JNCL) is an autosomal recessive neurodegenerative disorder, characterized by the cytosomal accumulation of autofluorescent protolipopigments in neurons and other cell types. The Batten disease gene (CLN3) has not yet been identified, but has been mapped to a small region of human chromosome area 16p12.1-p11.2. We recently reported the fortuitous discovery that the cytosolic phenol sulfotransferase gene (STP) is located within this same interval of chromosome 16p. Since phenol sulfotransferase is expressed in neurons, can sulfate lipophilic phenolic compounds, and is mapped near CLN3, STP is considered as a candidate gene for Batten disease. YAC and cosmid cloning results have further substantiated the close proximity of STP and a highly related sulfotransferase (STM), encoding the catecholamine-preferring enzyme, to the CLN3 region of chromosome 16p. In this report, we summarize some of the recent progress in the identification of two phenol sulfotransferase genes (STP and STM) as positional candidate genes for Batten disease. 42 refs., 1 tab.

  7. Lacritin and other autophagy associated proteins in ocular surface health.

    Science.gov (United States)

    Karnati, Roy; Talla, Venu; Peterson, Katherine; Laurie, Gordon W

    2016-03-01

    Advantage may be taken of macroautophagy ('autophagy') to promote ocular health. Autophagy continually captures aged or damaged cellular material for lysosomal degradation and recyling. When autophagic flux is chronically elevated, or alternatively deficient, health suffers. Chronic elevation of flux and stress are the consequence of inflammatory cytokines or of dry eye tears but not normal tears invitro. Exogenous tear protein lacritin transiently accelerates flux to restore homeostasis invitro and corneal health invivo, and yet the monomeric active form of lacritin appears to be selectively deficient in dry eye. Tissue transglutaminase-dependent cross-linking of monomer decreases monomer quantity and monomer affinity for coreceptor syndecan-1 thereby abrogating activity. Tissue transglutaminase is elevated in dry eye. Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration. For some, enzyme or gene replacement, or substrate reduction, therapy is proving to be successful. Here we discuss examples of restoring ocular surface homeostasis through alteration of autophagy, with particular attention to lacritin.

  8. YAC cosmid contigs spanning the Batten disease (CLN3) region at 16p12.1-p11.2

    Energy Technology Data Exchange (ETDEWEB)

    Jaervelae, I.E.; Mitchison, H.M.; O`Rawe, A.M.; Munroe, P.B. [Rayne Institute, London (United Kingdom)] [and others

    1995-09-20

    A yeast artificial chromosome (YAC) contig has been constructed in 16p12.1-p11.2 that encompasses three loci (D16S288, D16S299, and D16S298) closely linked to the gene causing Batten disease or juvenile-onset neuronal ceroid lipofuscinosis (CLN3). The physical map has been ordered using 42 sequence tagged sites. Four genes, interleukin-4 receptor (ILA4R), phenol-preferring phenol sulfotransferase (STP), monoamine preferring phenol sulfotransferase (STM), and sialophorin (SPN), have been mapped to the YAC contig. A partial genomic restriction map has been constructed to confirm the order and distances between D16S288 and STM. This part of the YAC contig is represented in eight cosmid contigs. One of these contains D16S298, predicted to be the locus closest to CLN3. The overlapping genomic clones are a valuable resource for cloning the Batten gene (CLN3) and other genes in the region. 45 refs., 2 figs., 5 tabs.

  9. Positional cloning of disease genes on chromosome 16

    Energy Technology Data Exchange (ETDEWEB)

    Doggett, N. [Los Alamos National Lab., NM (United States); Bruening, M. [Leiden Univ. (Netherlands); Callen, D. [Adelaide Women`s and Children`s Hospital, North Adelaide, South Australia (Australia); Gardiner, M. [University Coll., London (United Kingdom); Lerner, T. [Massachusetts General Hospital, Boston, MA (United States)

    1996-04-01

    The project seeks to elucidate the molecular basis of an important genetic disease (Batten`s disease) by molecular cloning of the affected gene by utilizing an overlapping clone map of chromosome 16. Batten disease (also known as juvenile neuronal ceroid lipofuscinosis) is a recessively inherited neurodegenerative disorder of childhood characterized by progressive loss of vision, seizures, and psychomoter disturbances. The Batten disease gene was genetically mapped to the chromosome region 16p 12.1 in close linkage with the genetic markers D16S299 and D16S298. Exon amplification of a cosmid containing D16S298 yielded a candidate gene that was disrupted by a 1 kb genomic deletion in all patients containing the most common haplotype for the disease. Two separate deletions and a point mutation altering a splice site in three unrelated families have confirmed the gene as the Batten disease gene. The disease gene encodes a novel 438 amino acid membrane binding protein of unknown function.

  10. Juvenile angiofibroma

    Science.gov (United States)

    Nasal tumor; Angiofibroma - juvenile; Benign nasal tumor; Juvenile nasal angiofibroma; JNA ... Juvenile angiofibroma is not very common. It is most often found in adolescent boys. The tumor contains ...

  11. Immunoreactivity for neuronal NOS and fluorescent indication of NO formation in the NTS of juvenile rats submitted to chronic intermittent hypoxia.

    Science.gov (United States)

    Pajolla, Gisela P; Accorsi-Mendonça, Daniela; Lunardi, Claure N; Bendhack, Lusiane M; Machado, Benedito H; Llewellyn-Smith, Ida J

    2009-06-15

    Exposure to chronic intermittent hypoxia (CIH) leads to significant autonomic and respiratory changes, similar to those observed in obstructive sleep apnea. The hypertension associated with CIH is due to sympathoexcitation triggered by long-term exposure to intermittent hypoxia. However, the mechanisms underlying these effects are unknown. Changes in central regulation of sympathetic activity may underlie CIH-induced hypertension. Since NO appears to be mainly sympathoinhibitory in the nucleus of the solitary tract (NTS), we hypothesized that CIH augments sympathetic activity, in part by reducing neuronal nitric oxide synthase (nNOS) expression and consequently nitric oxide (NO) production in this brain region. To test our hypothesis, juvenile male Wistar rats were exposed to CIH for 8 h/day for 10 days and sections of perfused brainstem were either stained to reveal nNOS-immunoreactivity or loaded with DAF 2-DA to label neurons containing NO. CIH rats showed a significant increase in mean arterial pressure and heart rate compared to controls. However, there was no significant difference in the distribution, staining intensity or numbers of nNOS-immunoreactive neurons in the NTS between experimental and control rats. We also found no significant change in NO content in the DAF 2-DA-loaded sections of NTS from CIH rats. Our data show that NO is not altered in the NTS of juvenile CIH rats, suggesting that nitrergic mechanisms, at least in the NTS, are unlikely to be involved in the sympathetic excitation that generates the hypertension observed after 10 days of CIH.

  12. A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.

    Directory of Open Access Journals (Sweden)

    Simon Edvardson

    Full Text Available Parkinson disease is caused by neuronal loss in the substantia nigra which manifests by abnormality of movement, muscle tone, and postural stability. Several genes have been implicated in the pathogenesis of Parkinson disease, but the underlying molecular basis is still unknown for ∼70% of the patients. Using homozygosity mapping and whole exome sequencing we identified a deleterious mutation in DNAJC6 in two patients with juvenile parkinsonism. The mutation was associated with abnormal transcripts and marked reduced DNAJC6 mRNA level. DNAJC6 encodes the HSP40 Auxilin, a protein which is selectively expressed in neurons and confers specificity to the ATPase activity of its partner Hcs70 in clathrin uncoating. In Auxilin null mice it was previously shown that the abnormally increased retention of assembled clathrin on vesicles and in empty cages leads to impaired synaptic vesicle recycling and perturbed clathrin mediated endocytosis. Endocytosis function, studied by transferring uptake, was normal in fibroblasts from our patients, likely because of the presence of another J-domain containing partner which co-chaperones Hsc70-mediated uncoating activity in non-neuronal cells. The present report underscores the importance of the endocytic/lysosomal pathway in the pathogenesis of Parkinson disease and other forms of parkinsonism.

  13. Study of rat neuronal genes with ordered differential display method

    Institute of Scientific and Technical Information of China (English)

    KANG; Jiansheng; (

    2001-01-01

    expression profiles in PC12 cells before and after nerve growth factor treatment, Proc. Natl. Acad. Sci. USA, 1995, 92: 8303-8307.[14]Tanaka, T., Kuwano, Y., Ishikawa, K. et al., Nucleotide sequence of cloned cDNA specific for rat ribosomal protein S11, J. Biol. Chem., 1985, 260(10): 6329-6333.[15]Muro, Y., Chan, E. K., Landberg, G. et al., A cell-cycle nuclear autoantigen containing WD-40 motifs expressed mainly in S and G2 phase cells, Biochem. Biophys. Res. Commun., 1995, 207(3): 1029-1037.[16]Ohshima, T., Kozak, C. A., Nagle, J. W. et al., Molecular cloning and chromosomal mapping of the mouse gene encoding cyclin-dependent kinase 5 regulatory subunit p35, Genomics, 1996, 35(2): 372-375.[17]Nada, S., Okada, M., MacAuley, A. et al., Cloning of a complementary DNA for a protein-tyrosine kinase that specifically phosphorylates a negative regulatory site of p60c-src, Nature, 1991, 351(6321): 69-72.[18]Watanabe, M., Isobe, T., Okuyama, T. et al., Molecular cloning of cdna to rat 14-3-3 eta chain polypeptide and the neuronal expression of the mRNA in the central nervous system, Brain Res. Mol. Brain Res., 1991, 10(2): 151-158.[19]Sampson, M. J., Lovell, R. S., Craigen, W. J., Isolation, characterization, and mapping of two mouse mitochondrial voltage-dependent anion channel isoforms, Genomics, 1996, 33(2): 283-288.[20]Schriner, J. E., Yi, W., Hofmann, S. L. et al., cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis, Genomics, 1996, 34(3): 317-322.[21]Azuma, T., Ao, S., Saito, Y. et al., Human SOX11, an upregulated gene during the neural differentiation, has a long 3' untranslated region, DNA Res., 1999, 6(5): 357-360.[22]Nishiyama, H., Higashitsuji, H., Yokoi, H. et al., Cloning and characterization of human CIRP (cold-inducible RNA-binding protein) cDNA and chromosomal assignment of the gene, Gene, 1997, 204(1-2): 115-120.[23]Ikeda, J., Kaneda, S

  14. Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3.

    Directory of Open Access Journals (Sweden)

    Amanda Getty

    Full Text Available Juvenile CLN3 disease (formerly known as juvenile neuronal ceroid lipofuscinosis is a fatal childhood neurodegenerative disorder caused by mutations in the CLN3 gene. CLN3 encodes a putative lysosomal transmembrane protein with unknown function. Previous cell culture studies using CLN3-overexpressing vectors and/or anti-CLN3 antibodies with questionable specificity have also localized CLN3 in cellular structures other than lysosomes. Osmoregulation of the mouse Cln3 mRNA level in kidney cells was recently reported. To clarify the subcellular localization of the CLN3 protein and to investigate if human CLN3 expression and localization is affected by osmotic changes we generated a stably transfected BHK (baby hamster kidney cell line that expresses a moderate level of myc-tagged human CLN3 under the control of the human ubiquitin C promoter. Hyperosmolarity (800 mOsm, achieved by either NaCl/urea or sucrose, dramatically increased the mRNA and protein levels of CLN3 as determined by quantitative real-time PCR and Western blotting. Under isotonic conditions (300 mOsm, human CLN3 was found in a punctate vesicular pattern surrounding the nucleus with prominent Golgi and lysosomal localizations. CLN3-positive early endosomes, late endosomes and cholesterol/sphingolipid-enriched plasma membrane microdomain caveolae were also observed. Increasing the osmolarity of the culture medium to 800 mOsm extended CLN3 distribution away from the perinuclear region and enhanced the lysosomal localization of CLN3. Our results reveal that CLN3 has multiple subcellular localizations within the cell, which, together with its expression, prominently change following osmotic stress. These data suggest that CLN3 is involved in the response and adaptation to cellular stress.

  15. Dermatomyositis (Juvenile)

    Science.gov (United States)

    ... Am A Patient / Caregiver Diseases & Conditions Dermatomyositis (Juvenile) Dermatomyositis (Juvenile) Fast Facts Patients with JDM have varying ... What are common signs and symptoms of juvenile dermatomyositis? The most common signs and symptoms of JDM ...

  16. Retinoschisis (Juvenile)

    Science.gov (United States)

    ... here Home › Eye Conditions Listen Retinoschisis What is Juvenile Retinoschisis? Juvenile retinoschisis is an inherited disease diagnosed in childhood ... degeneration of the retina. What are the symptoms? Juvenile retinoschisis, also known as X-linked retinoschisis, occurs ...

  17. The Batten disease gene CLN3 confers resistance to endoplasmic reticulum stress induced by tunicamycin

    Energy Technology Data Exchange (ETDEWEB)

    Wu, Dan, E-mail: danw@bjmu.edu.cn [Department of Medical Genetics, Peking University Health Science Center, No 38 Xueyuan Road, Haidian district, Beijing 100191 (China); Liu, Jing; Wu, Baiyan [Department of Medical Genetics, Peking University Health Science Center, No 38 Xueyuan Road, Haidian district, Beijing 100191 (China); Tu, Bo; Zhu, Weiguo [Department of Biochemistry and Molecular Biology, Peking University Health Science Center, No 38 Xueyuan Road, Haidian district, Beijing 100191 (China); Luo, Jianyuan, E-mail: jluo@som.umaryland.edu [Department of Medical Genetics, Peking University Health Science Center, No 38 Xueyuan Road, Haidian district, Beijing 100191 (China); Department of Medical and Research Technology, School of Medicine, University of Maryland, Baltimore 21201 (United States)

    2014-04-25

    Highlights: • The work reveals a protective properties of CLN3 towards TM-induced apoptosis. • CLN3 regulates expression of the GRP78 and the CHOP in response to the ER stress. • CLN3 plays a specific role in the ERS response. - Abstract: Mutations in CLN3 gene cause juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease), an early-onset neurodegenerative disorder that is characterized by the accumulation of ceroid lipofuscin within lysosomes. The function of the CLN3 protein remains unclear and is presumed to be related to Endoplasmic reticulum (ER) stress. To investigate the function of CLN3 in the ER stress signaling pathway, we measured proliferation and apoptosis in cells transfected with normal and mutant CLN3 after treatment with the ER stress inducer tunicamycin (TM). We found that overexpression of CLN3 was sufficient in conferring increased resistance to ER stress. Wild-type CLN3 protected cells from TM-induced apoptosis and increased cell proliferation. Overexpression of wild-type CLN3 enhanced expression of the ER chaperone protein, glucose-regulated protein 78 (GRP78), and reduced expression of the proapoptotic protein CCAAT/-enhancer-binding protein homologous protein (CHOP). In contrast, overexpression of mutant CLN3 or siRNA knockdown of CLN3 produced the opposite effect. Together, our data suggest that the lack of CLN3 function in cells leads to a failure of management in the response to ER stress and this may be the key deficit in JNCL that causes neuronal degeneration.

  18. GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy.

    Directory of Open Access Journals (Sweden)

    Libor Velíšek

    Full Text Available Idiopathic generalized epilepsy (IGE syndromes represent about 30% of all epilepsies. They have strong, but elusive, genetic components and sex-specific seizure expression. Multiple linkage and population association studies have connected the bromodomain-containing gene BRD2 to forms of IGE. In mice, a null mutation at the homologous Brd2 locus results in embryonic lethality while heterozygous Brd2+/- mice are viable and overtly normal. However, using the flurothyl model, we now show, that compared to the Brd2+/+ littermates, Brd2+/- males have a decreased clonic, and females a decreased tonic-clonic, seizure threshold. Additionally, long-term EEG/video recordings captured spontaneous seizures in three out of five recorded Brd2+/- female mice. Anatomical analysis of specific regions of the brain further revealed significant differences in Brd2+/- vs +/+ mice. Specifically, there were decreases in the numbers of GABAergic (parvalbumin- or GAD67-immunopositive neurons along the basal ganglia pathway, i.e., in the neocortex and striatum of Brd2+/- mice, compared to Brd2+/+ mice. There were also fewer GABAergic neurons in the substantia nigra reticulata (SNR, yet there was a minor, possibly compensatory increase in the GABA producing enzyme GAD67 in these SNR cells. Further, GAD67 expression in the superior colliculus and ventral medial thalamic nucleus, the main SNR outputs, was significantly decreased in Brd2+/- mice, further supporting GABA downregulation. Our data show that the non-channel-encoding, developmentally critical Brd2 gene is associated with i sex-specific increases in seizure susceptibility, ii the development of spontaneous seizures, and iii seizure-related anatomical changes in the GABA system, supporting BRD2's involvement in human IGE.

  19. CLN3编码蛋白Battenin的N-端是与蛋白结合的功能域%N-terminal segments are the functional domains of CLN3-encoded battenin for protein interactions

    Institute of Scientific and Technical Information of China (English)

    Dorota N. MOROZIEWICZ; Weina JU; Rocksheng ZHONG; Nanbert ZHONG

    2006-01-01

    Objective: Batten disease (BD), the juvenile form of neuronal ceroid lipofuscinosis (NCLs), is pathological characterized by finding lysosomal storage of autofluorescent lipofuscins with unique ultrastructural profiles. The gene underlying BD is designated CLN3 and encodes a protein, Battenin, of unknown function that localizes in lysosomes and/or mitochondria. Previously, we hypothesized that Battenin associates with other membrane protein(s) to form a membrane complex. Dysfunction of this complex could result in the pathological changes of BD, and possibly in other NCLs. Two such membranous proteins, the slow and fast Battenin-interactive proteins (BIPs and BIPf) of unknown functions, have been identified. In this study, we have characterized the functional domains of Battenin that interact with both BIP proteins. Methods: Protein-protein interactions with a yeast two-hybrid system were employed. A "deletion assay" was employed to localize the interactive segment(s). Different lengths of cDNA sequences lacking exon 1-5 were used to express CLN3-encoded proteins lacking N-terminal segments in the yeast two-hybrid system. N-terminal exons of CLN3 were deleted with PCR-cloning strategies.Results: We eliminated the possibility of interacting domains from the exon 7-encoded region because both Battenin and mBattenin interact with the BIP proteins. We have shown that peptide sequences encoded by exons 2 and 4 of CLN3 gene include the functional domains by which Battenin interacts with the BIP proteins. Conclusion: Our studies provide evidence that the N-terminus of Battenin is the functional domain for these protein interactions.

  20. Validation of quantitative brain dopamine D2 receptor imaging with a conventional single-head SPET camera

    Energy Technology Data Exchange (ETDEWEB)

    Nikkinen, P. (Helsinki Univ. (Finland). Dept. of Clinical Chemistry); Liewendahl, K. (Helsinki Univ. (Finland). Dept. of Clinical Chemistry); Savolainen, S. (Helsinki Univ. (Finland). Dept. of Physics); Launes, J. (Helsinki Univ. (Finland). Dept. of Neurology)

    1993-08-01

    Phantom measurements were performed with a conventional single-head single-photon emission tomography (SPET) camera in order to validate the relevance of the basal ganglia/frontal cortex iodine-123 iodobenzamide (IBZM) uptake ratios measured in patients. Inside a cylindrical phantom (diameter 22 cm), two cylinders with a diameter of 3.3 cm were inserted. The activity concentrations of the cylinders ranged from 6.0 to 22.6 kBq/ml and the cylinder/background activity ratios varied from 1.4 to 3.8. From reconstructed SPET images the cylinder/background activity ratios were calculated using three different regions of interest (ROIs). A linear relationship between the measured activity ratio and the true activity ratio was obtained. In patient studies, basal ganglia/frontal cortex IBZM uptake ratios determined from the reconstructed slices using attentuation correction prior to reconstruction were 1.30 [+-]0.03 in idiopathic Parkinson's disease (n = 9), 1,33 [+-]0.09 in infantile and juvenile neuronal ceroid lipofuscinosis (n = 7) and 1.34 [+-]0.05 in narcolepsy (n = 8). Patients with Huntington's disease had significantly lower ratios (1.09 [+-]0.04, n = 5). The corrected basal ganglia/frontal cortex ratios, determined using linear regression, were about 80 % higher. The use of dual-window scatter correction increased the measured ratios by about 10 %. Although comprehensive correction methods can further improve the resolution in SPET images, the resolution of the SPET system used by us (1.5 - 2 cm) will determine what is achievable in basal ganglia D2 receptor imaging. (orig.)

  1. Juvenile Scleroderma

    Science.gov (United States)

    Juvenile Scleroderma INTRODUCTION Every parent will experience a moment of panic when told their child has scleroderma. ... in all their family members as well. CONCLUSION Juvenile scleroderma can be unsettling for the child and ...

  2. Juvenile Judge

    Institute of Scientific and Technical Information of China (English)

    1997-01-01

    SHANG Xiuyun was among the first sitting judges when the juvenile court was set up in Beijing 10 years ago. With enriched experience she has altered the way judges ask questions in court. She began the practice of inviting juvenile offenders, their parents, relatives, friends and teachers to the juvenile court to work hand in hand in dealing with cases: Facing their relatives and friends and hearing their heartfelt words, juvenile offenders would often be touched, thus bringing forth a positive attitude toward life.

  3. Juvenile Arthritis

    Science.gov (United States)

    Juvenile arthritis (JA) is arthritis that happens in children. It causes joint swelling, pain, stiffness, and loss of motion. It can affect any joint, but ... of JA that children get is juvenile idiopathic arthritis. There are several other forms of arthritis affecting ...

  4. [Juvenile scleroderma].

    Science.gov (United States)

    de Mâcedo, Patrícia Andrade; Shinjo, Samuel Katsuyuki; Goldenstein-Schainberg, Cláudia

    2008-01-01

    Juvenile scleroderma is a rare childhood condition characterized by fibrosis of the skin and internal organs. Clinical manifestations of childhood scleroderma are different from adult disease and early recognition, correct classification and treatment can improve long-term outcome. This review explores the most recent actualizations on clinical manifestations, classification criteria, treatment options and prognosis of juvenile scleroderma. There are two main forms of the disease: localized scleroderma and systemic sclerosis. Localized scleroderma is the most common form in children and mostly restricted to the skin. Juvenile diffuse systemic sclerosis is related to visceral involvement and cardiac disease which is the main cause of death in these patients. The outcome of juvenile systemic sclerosis is better compared with the adult form. Treatment remains a medical challenge and the EULAR task force proposed an approach to juvenile scleroderma treatment based on expert's opinion and guidelines used for the treatment of adults. Larger studies on childhood scleroderma are warranted.

  5. Juvenile Prostitution.

    Science.gov (United States)

    Csapo, Marg

    1986-01-01

    Recent research and Canadian government committee reports concerning juvenile prostitution are reviewed. Proposals are made in the realms of law and social policy; and existing programs are described. (DB)

  6. Juvenile Prostitution.

    Science.gov (United States)

    Csapo, Marg

    1986-01-01

    Recent research and Canadian government committee reports concerning juvenile prostitution are reviewed. Proposals are made in the realms of law and social policy; and existing programs are described. (DB)

  7. Juvenile myasthenia

    Directory of Open Access Journals (Sweden)

    Knežević-Pogančev Marija

    2011-01-01

    Full Text Available Introduction. Juvenile myasthenia is a chronic autoimmune neuromuscular disease characterized by varying degrees of fluctuating, painless muscle weakness and rapid fatigue of any muscles under voluntary control. Juvenile myasthenia is a form of myasthenia appearing in adolescent age, representing 10% to 15% of all cases of myasthenia gravis. Juvenile myasthenia is presented by a defect in the transmission of nerve impulses to muscles, resulting from a breakdown in the normal communication between nerves and muscles. In myasthenia, antibodies produced by the body’s own immune system block, alter, or destroy the receptors for acetylcholine. Juvenile myasthenia is neither directly inherited nor is it contagious. Signs and Symptoms. The first noticeable symptoms may be eye muscle weakness, difficulty in swallowing, or slurred speech. Juvenile myasthenia usually affects muscles innervated by the cranial nerves (face, lips, tongue, neck and throat, but it can affect any muscle group. Symptoms vary in type and severity with typical periods of exacerbation interspersed with periods of remission. When the muscles necessary for breathing are affected, a patient is said to be in a myasthenic crisis, which is a life-threatening situation. Disease Outcome and Treatment. Juvenile myasthenia produces sporadic but progressive weakness and abnormal fatigability of striated (skeletal muscles, exacerbated by exercise and repeated movement, but improved by rest and anticholinesterase drugs. Juvenile myasthenia follows an unpredictable course of recurring exacerbations and periodic remissions. With current therapies, however, most cases of juvenile myasthenia are not as serious as the name implies. Although there is no known cure, drug treatment has improved prognosis and allows patients to lead relatively normal lives, except during exacerbations.

  8. Early-onset Lafora body disease

    Science.gov (United States)

    Turnbull, Julie; Girard, Jean-Marie; Lohi, Hannes; Chan, Elayne M.; Wang, Peixiang; Tiberia, Erica; Omer, Salah; Ahmed, Mushtaq; Bennett, Christopher; Chakrabarty, Aruna; Tyagi, Atul; Liu, Yan; Pencea, Nela; Zhao, XiaoChu; Scherer, Stephen W.; Ackerley, Cameron A.

    2012-01-01

    The most common progressive myoclonus epilepsies are the late infantile and late infantile-variant neuronal ceroid lipofuscinoses (onset before the age of 6 years), Unverricht–Lundborg disease (onset after the age of 6 years) and Lafora disease. Lafora disease is a distinct disorder with uniform course: onset in teenage years, followed by progressively worsening myoclonus, seizures, visual hallucinations and cognitive decline, leading to a vegetative state in status myoclonicus and death within 10 years. Biopsy reveals Lafora bodies, which are pathognomonic and not seen with any other progressive myoclonus epilepsies. Lafora bodies are aggregates of polyglucosans, poorly constructed glycogen molecules with inordinately long strands that render them insoluble. Lafora disease is caused by mutations in the EPM2A or EPM2B genes, encoding the laforin phosphatase and the malin ubiquitin ligase, respectively, two cytoplasmically active enzymes that regulate glycogen construction, ensuring symmetric expansion into a spherical shape, essential to its solubility. In this work, we report a new progressive myoclonus epilepsy associated with Lafora bodies, early-onset Lafora body disease, map its locus to chromosome 4q21.21, identify its gene and mutation and characterize the relationship of its gene product with laforin and malin. Early-onset Lafora body disease presents early, at 5 years, with dysarthria, myoclonus and ataxia. The combination of early-onset and early dysarthria strongly suggests late infantile-variant neuronal ceroid lipofuscinosis, not Lafora disease. Pathology reveals no ceroid lipofuscinosis, but Lafora bodies. The subsequent course is a typical progressive myoclonus epilepsy, though much more protracted than any infantile neuronal ceroid lipofuscinosis, or Lafora disease, patients living into the fourth decade. The mutation, c.781T>C (Phe261Leu), is in a gene of unknown function, PRDM8. We show that the PRDM8 protein interacts with laforin and malin and

  9. Juvenile idiopathic arthritis

    Science.gov (United States)

    Juvenile rheumatoid arthritis (JRA); Juvenile chronic polyarthritis; Still disease; Juvenile spondyloarthritis ... The cause of juvenile idiopathic arthritis (JIA) is not known. It ... illness . This means the body attacks and destroys healthy body ...

  10. Juvenile Polyposis Syndrome

    Science.gov (United States)

    ... Types of Cancer > Juvenile Polyposis Syndrome Request Permissions Juvenile Polyposis Syndrome Approved by the Cancer.Net Editorial Board , 12/2015 What is juvenile polyposis syndrome? Juvenile polyposis syndrome (JPS) is a ...

  11. Juvenile Spondyloarthritis

    Science.gov (United States)

    Gmuca, Sabrina; Weiss, Pamela F.

    2015-01-01

    Purpose of review To provide a comprehensive update of the pathogenesis, diagnostic imaging, treatments, and disease activity measurements of juvenile spondyloarthritis (JSpA). Recent findings Genetic and microbiome studies have provided new information regarding possible pathogenesis of JSpA. Recent work suggests that children with JSpA have decreased thresholds for pain in comparison to healthy children. Additionally, pain on physical examination and abnormalities on ultrasound of the entheses are not well correlated. Treatment guidelines for juvenile arthritis, including JSpA, were published by the American College of Rheumatology and are based on active joint count and presence of sacroiliitis. Recent studies have established the efficacy of tumor necrosis factor inhibitors in the symptomatic treatment of axial disease, though their efficacy for halting progression of structural damage is less clear. Newly developed disease activity measures for JSpA include the Juvenile Arthritis Disease Activity Score and the JSpA Disease Activity index. In comparison to other categories of juvenile arthritis, children with JSpA are less likely to attain and sustain inactive disease. Summary Further microbiome and genetic research may help elucidate JSpA pathogenesis. More randomized therapeutic trials are needed and the advent of new composite disease activity measurement tools will hopefully allow for the design of these greatly needed trials. PMID:26002028

  12. Juvenile Justice in Milwaukee

    Science.gov (United States)

    Williams, Gary L.; Greer, Lanetta

    2010-01-01

    Historically, there have been several attempts made to address issues surrounding juvenile delinquency. The Wisconsin Legislature outlines the objectives of the juvenile justice system in the Juvenile Justice Code in s. 939.01, ?to promote a juvenile justice system capable of dealing with the problem of juvenile delinquency, a system which will…

  13. Juvenile xanthogranuloma.

    Science.gov (United States)

    Singh, R; Ghazali, W

    1992-05-01

    Juvenile xanthogranuloma is a benign cutaneous growth presenting as papules or nodules. It is characterized by an intradermal collection of lipid-laden macrophages and varying degrees of fibroblastic proliferation. We have recently observed two patients with xanthogranulomas: one was found to have a papular type and the second patient had multiple nodular growths. We present these cases, which should be considered in the differential diagnosis of skin nodules.

  14. Selective N-hydroxyhydantoin carbamate inhibitors of mammalian serine hydrolases

    Science.gov (United States)

    Cognetta, Armand B.; Niphakis, Micah J.; Lee, Hyeon-Cheol; Martini, Michael L.; Hulce, Jonathan J.; Cravatt, Benjamin F.

    2015-01-01

    Serine hydrolase inhibitors, which facilitate enzyme function assignment and are used to treat a range of human disorders, often act by an irreversible mechanism that involves covalent modification of the serine hydrolase catalytic nucleophile. The portion of mammalian serine hydrolases for which selective inhibitors have been developed, however, remains small. Here, we show that N-hydroxyhydantoin (NHH) carbamates are a versatile class of irreversible serine hydrolase inhibitors that can be modified on both the staying (carbamylating) and leaving (NHH) groups to optimize potency and selectivity. Synthesis and screening of a small library of NHH carbamates by competitive activity-based protein profiling furnished selective, in vivo-active inhibitors and tailored activity-based probes for multiple mammalian serine hydrolases, including palmitoyl protein thioesterease-1 (PPT1), mutations of which cause the human disease infantile neuronal ceroid lipofuscinosis. PMID:26120000

  15. Dermatomiositis juvenil

    OpenAIRE

    Goldaracena, Pablo; Pérez, Federico

    2008-01-01

    La dermatomiositis juvenil (DMJ) es una enfermedad multi sistémica de etiología desconocida, caracterizada por una vasculitis que ocasiona una inflamación no supurativa del músculo estriado y lesiones cutáneas distintivas. La cobertura de los criterios de Bohan y Peter establece el diagnóstico: exantema patognomónico junto a debilidad muscular proximal simétrica, elevación sérica de enzimas musculares, s...

  16. Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.

    Directory of Open Access Journals (Sweden)

    John F Staropoli

    Full Text Available Cln3(Δex7/8 mice harbor the most common genetic defect causing juvenile neuronal ceroid lipofuscinosis (JNCL, an autosomal recessive disease involving seizures, visual, motor and cognitive decline, and premature death. Here, to more thoroughly investigate the manifestations of the common JNCL mutation, we performed a broad phenotyping study of Cln3(Δex7/8 mice. Homozygous Cln3(Δex7/8 mice, congenic on a C57BL/6N background, displayed subtle deficits in sensory and motor tasks at 10-14 weeks of age. Homozygous Cln3(Δex7/8 mice also displayed electroretinographic changes reflecting cone function deficits past 5 months of age and a progressive decline of retinal post-receptoral function. Metabolic analysis revealed increases in rectal body temperature and minimum oxygen consumption in 12-13 week old homozygous Cln3(Δex7/8 mice, which were also seen to a lesser extent in heterozygous Cln3(Δex7/8 mice. Heart weight was slightly increased at 20 weeks of age, but no significant differences were observed in cardiac function in young adults. In a comprehensive blood analysis at 15-16 weeks of age, serum ferritin concentrations, mean corpuscular volume of red blood cells (MCV, and reticulocyte counts were reproducibly increased in homozygous Cln3(Δ (ex7/8 mice, and male homozygotes had a relative T-cell deficiency, suggesting alterations in hematopoiesis. Finally, consistent with findings in JNCL patients, vacuolated peripheral blood lymphocytes were observed in homozygous Cln3(Δ (ex7/8 neonates, and to a greater extent in older animals. Early onset, severe vacuolation in clear cells of the epididymis of male homozygous Cln3(Δ (ex7/8 mice was also observed. These data highlight additional organ systems in which to study CLN3 function, and early phenotypes have been established in homozygous Cln3(Δ (ex7/8 mice that merit further study for JNCL biomarker development.

  17. What Is Juvenile Arthritis?

    Science.gov (United States)

    ... Analgesics for Osteoarthritis (Report from AHRQ) Joint Replacement Surgery: Health Information Basics for You and Your Family NIH Pediatric Rheumatology Clinic Health Information Juvenile Arthritis Find a Clinical Trial Journal Articles Juvenile Arthritis PDF Version Size: 123 KB ...

  18. Juvenile Delinquency: An Introduction

    Science.gov (United States)

    Smith, Carolyn A.

    2008-01-01

    Juvenile Delinquency is a term which is often inaccurately used. This article clarifies definitions, looks at prevalence, and explores the relationship between juvenile delinquency and mental health. Throughout, differences between males and females are explored. (Contains 1 table.)

  19. Parenting and juvenile delinquency

    NARCIS (Netherlands)

    Hoeve, Machteld

    2008-01-01

    Juvenile delinquency is a noteworthy problem. This thesis addressed the association between parenting and juvenile delinquency by analyzing the concepts of parenting adopted in family research in relation to criminological concepts and measures of delinquent behavior. Four studies were conducted.

  20. Juvenile Arrests, 2007. Juvenile Justice Bulletin

    Science.gov (United States)

    Puzzanchera, Charles

    2009-01-01

    This Bulletin summarizes 2007 juvenile crime and arrest data reported by local law enforcement agencies across the country and cited in the FBI report, "Crime in the United States 2007." The Bulletin describes the extent and nature of juvenile crime that comes to the attention of the justice system. It serves as a baseline for comparison for…

  1. Juvenile polyposis syndrome

    NARCIS (Netherlands)

    L.A.A. Brosens; D. Langeveld; W.A. van Hattem; F.M. Giardiello; G.J.A. Offerhaus

    2011-01-01

    Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a

  2. Juveniles on trial.

    Science.gov (United States)

    Quinn, Kathleen M

    2002-10-01

    This article describes common forensic evaluations requested of juvenile court mental health evaluators. There has been a legal shift toward criminalization of juvenile court, with a greater emphasis on rights, abandonment of the rehabilitative model, and greater movement of adolescents into the adult criminal court. A resulting shift has been the redefinition of juvenile court forensic evaluations toward the specificity of adult forensic work. The challenge for evaluators is to refine their knowledge of the forensic standards and bring knowledge of development, assessment, and diagnosis in juveniles and interview techniques appropriate to juveniles to improve the evaluation and forensic reports.

  3. Juvenile polyposis syndrome

    Institute of Scientific and Technical Information of China (English)

    Lodewijk AA Brosens; Danielle Langeveld; W Arnout van Hattem; Francis M Giardiello; G Johan A Offerhaus

    2011-01-01

    Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer.The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34.Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes.Clinically, juvenile polyposis syndrome is defined by the presence of 5 or more juvenile polyps in the colorectum,juvenile polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis.In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene is found.Both genes play a role in the BMP/TGF-beta signalling pathway.It has been suggested that cancer in juvenile polyposis may develop through the so-alled "landscaper mechanism" where an abnormal stromal environment leads to neoplastic transformation of the adjacent epithelium and in the end invasive carcinoma.Recognition of this rare disorder is important for patients and their families with regard to treatment,follow-up and screening of at risk individuals.Each clinician confronted with the diagnosis of a juvenile polyp should therefore consider the possibility of juvenile polyposis syndrome.In addition, juvenile polyposis syndrome provides a unique model to study colorectal cancer pathogenesis in general and gives insight in the molecular genetic basis of cancer. This review discusses clinical manifestations, genetics, pathogenesis and management of juvenile polyposis syndrome.

  4. Juvenile giant fibroadenoma

    Directory of Open Access Journals (Sweden)

    Vipul Yagnik

    2011-07-01

    Full Text Available Fibroadenomas are benign solid tumor associated with aberration of normal lobular development. Juvenile giant fibroadenoma is usually single and >5 cm in size /or >500 gms in weight. Important differential diagnoses are: phyllodes tumor and juvenile gigantomastia. Simple excision is the treatment of choice.

  5. Renewing Juvenile Justice

    Science.gov (United States)

    Macallair, Daniel; Males, Mike; Enty, Dinky Manek; Vinakor, Natasha

    2011-01-01

    The Center on Juvenile and Criminal Justice (CJCJ) was commissioned by Sierra Health Foundation to critically examine California's juvenile justice system and consider the potential role of foundations in promoting systemic reform. The information gathered by CJCJ researchers for this report suggests that foundations can perform a key leadership…

  6. Philanthropist in Juvenile Reformatory

    Institute of Scientific and Technical Information of China (English)

    HAN NIU

    2007-01-01

    @@ On the afternoon of February 1, 2007, Chen Guangbiao, a noted philanthropist, found himself in the Jiangsu Provincial Juvenile Reformatory in Jurong City for a ceremony to donate two buses, 100 computers, and 100 desks and 100 chairs for the juvenile offenders to use in their study.

  7. Parenting and juvenile delinquency

    NARCIS (Netherlands)

    Hoeve, Machteld

    2008-01-01

    Juvenile delinquency is a noteworthy problem. This thesis addressed the association between parenting and juvenile delinquency by analyzing the concepts of parenting adopted in family research in relation to criminological concepts and measures of delinquent behavior. Four studies were conducted. Th

  8. Juvenile Confinement in Context

    Science.gov (United States)

    Mendel, Richard A.

    2012-01-01

    For more than a century, the predominant strategy for the treatment and punishment of serious and sometimes not-so-serious juvenile offenders in the United States has been placement into large juvenile corrections institutions, alternatively known as training schools, reformatories, or youth corrections centers. America's heavy reliance on…

  9. Parenting and juvenile delinquency

    NARCIS (Netherlands)

    Hoeve, Machteld

    2008-01-01

    Juvenile delinquency is a noteworthy problem. This thesis addressed the association between parenting and juvenile delinquency by analyzing the concepts of parenting adopted in family research in relation to criminological concepts and measures of delinquent behavior. Four studies were conducted. Th

  10. Juvenile mammary papillomatosis; Papilomatosis juvenil mamaria

    Energy Technology Data Exchange (ETDEWEB)

    Alvarez, M.; Jimenez, A. V. [Hospital Reina Sofia. Cordoba (Spain)

    2001-07-01

    Juvenile mammary papillomatosis is a benign proliferative disease of young patients, generally under 30 years of age. The most frequent clinical presentation is the existence of an elastic and mobile lymph node of the breast. Anatomopathologically, it is characterized because it presents ductal epithelial hyperplasia, sometimes with marked atypia, and there are numerous cysts having different sizes among the findings. It has been associated with an increase in the incidence of breast cancer, both in the patient herself as well as her family. We review the literature on the subject and present the mammographic and ultrasonographic findings of a 22 year old woman diagnosed of juvenile mammary papillomatosis. (Author) 12 refs.

  11. Cryopyrin-Associated Autoinflammatory Syndromes (CAPS) - Juvenile

    Science.gov (United States)

    ... Cryopyrin-Associated Autoinflammatory Syndrome (CAPS) (Juvenile) Dermatomyositis (Juvenile) Familial Mediterranean Fever (Juvenile) Fibromyalgia Giant Cell Arteritis Glucocorticoid-induced Osteoperosis ...

  12. Juvenil idiopatisk arthritis

    DEFF Research Database (Denmark)

    Herlin, Troels

    2002-01-01

    The new classification of juvenile idiopathic arthritis (JIA) is described in this review. Clinical characteristics divide JIA in to subtypes: systemic, oligoarticular (persistent and extended type), RF-positive and--negative polyarticular, enthesitis-related arthritis and psoriatic arthritis...

  13. Juvenile Rockfish Recruitment Cruise

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — In 1983, the groundfish analysis project began a series of yearly cruises designed to assess the annual abundance of juvenile rockfish along the central California...

  14. Juvenile Idiopathic Arthritis

    Science.gov (United States)

    ... Physical Therapy Regular Exercise en español Artritis idiopática juvenil It may begin with a swollen knuckle, a ... may suddenly appear and disappear, developing in one area and then another. High fevers that tend to ...

  15. Juvenile Sex Offenders.

    Science.gov (United States)

    Ryan, Eileen P; Otonichar, Joseph M

    2016-07-01

    Sexual offending by juveniles accounts for a sizable percentage of sexual offenses, especially against young children. In this article, recent research on female juvenile sex offenders (JSOs), risk factors for offending in juveniles, treatment, and the ways in which these youth may differ from general delinquents will be reviewed. Most JSOs do not go on to develop paraphilic disorders or to commit sex offenses during adulthood, and as a group, they are more similar to nonsexual offending juvenile delinquents than to adult sex offenders. Recent research has elucidated some differences between youth who commit sex offenses and general delinquents in the areas of atypical sexual interests, the use of pornography, and early sexual victimization during childhood.

  16. Juvenile Spondyloarthritis Treatment Recommendations

    OpenAIRE

    Tse, Shirley; Burgos-Vargas, Ruben; Colbert, Robert A

    2012-01-01

    No specific recommendations for the treatment of juvenile spondyloarthritis have been established. Important differences exist in how spondyloarthritis begins and progresses in children and adults, supporting the need for pediatric-specific recommendations. Recently published recommendations for the treatment of juvenile arthritis consider children with sacroiliitis in a separate group, and allow for more accelerated institution of a TNF inhibitor depending on disease activity and prognostic ...

  17. Parenting and juvenile delinquency

    OpenAIRE

    Hoeve, Machteld

    2008-01-01

    Juvenile delinquency is a noteworthy problem. This thesis addressed the association between parenting and juvenile delinquency by analyzing the concepts of parenting adopted in family research in relation to criminological concepts and measures of delinquent behavior. Four studies were conducted. The first study addressed a meta-analysis on parenting characteristics and styles in relation to delinquency. In this meta-analysis, previous manuscripts were systematically analyzed, computing mean ...

  18. Vocational Teachers' Role in Serving Juvenile Offenders.

    Science.gov (United States)

    Meers, Gary D.

    1983-01-01

    Educators need to understand the juvenile justice system to understand what juvenile offenders go through while completing their sentences. This article reviews cases and juvenile charge classifications, and presents a model for alternative sentencing options for juveniles. (JOW)

  19. Trunk asymmetry in juveniles

    Directory of Open Access Journals (Sweden)

    Triantafyllopoulos Georgios

    2008-09-01

    Full Text Available Abstract Background Trunk asymmetry (TA is a common phenomenon in children, but its incidence in juveniles is not known. The present cross sectional study reports TA in normal juveniles and provides data which describe the evolution of TA from early childhood to adolescence. Materials and methods The scoliometer readings in both standing and sitting forward bending position (FBP of 3301 children, (1645 boys, and 1656 girls aged from 3 to 9 years old were studied. TA was quantified by measuring angle of trunk rotation (ATR and children were categorized as symmetric (ATR = 0°, mild asymmetric (ATR 1° – 6° and severely asymmetric (ATR ≥ 7°. The difference of TA between standing and sitting FBP as well as differences between boys and girls in frequency of TA were also calculated. The scoliometer readings were analyzed by age to reveal at which age the juvenile pattern of TA changes into the adolescent one. Results 74.2% of boys and 77% of girls were symmetric (ATR = 0° in the thoracic region in standing FBP, while 82.7% of boys and 84.1% of girls were symmetric in the thoracic region in sitting FBP. Juvenile girls are more symmetric than boys but severe TA was found almost the same between the two genders. A significant reduction in the frequency of mild TA from standing into sitting FBP, in all the examined regions in both boys and girls was found, but in severe TA this reduction is very small. Analysing scoliometer readings by age it appears that significant TA changes take place between 8–9 years of age for boys and between 6–7 and 8–9 years for girls. TA in boys is changing into the adolescent pattern at a later age than in girls. Conclusion Juveniles were found more symmetric than adolescents, who were studied previously in a different study. Furthermore, juvenile girls were found more symmetric than boys. Juvenile TA pattern seems to be in accordance with the higher incidence of juvenile idiopathic scoliosis in boys. Furthermore

  20. Juvenile Incarceration and Health.

    Science.gov (United States)

    Barnert, Elizabeth S; Perry, Raymond; Morris, Robert E

    2016-03-01

    Addressing the health status and needs of incarcerated youth represents an issue at the nexus of juvenile justice reform and health care reform. Incarcerated youth face disproportionately higher morbidity and higher mortality compared to the general adolescent population. Dental health, reproductive health, and mental health needs are particularly high, likely as a result of lower access to care, engagement in high-risk behaviors, and underlying health disparities. Violence exposure and injury also contribute to the health disparities seen in this population. Further, juvenile incarceration itself is an important determinant of health. Juvenile incarceration likely correlates with worse health and social functioning across the life course. Correctional health care facilities allow time for providers to address the unmet physical and mental health needs seen in this population. Yet substantial challenges to care delivery in detention facilities exist and quality of care in detention facilities varies widely. Community-based pediatricians can serve a vital role in ensuring continuity of care in the postdetention period and linking youth to services that can potentially prevent juvenile offending. Pediatricians who succeed in understanding and addressing the underlying social contexts of their patients' lives can have tremendous impact in improving the life trajectories of these vulnerable youth. Opportunities exist in clinical care, research, medical education, policy, and advocacy for pediatricians to lead change and improve the health status of youth involved in the juvenile justice system.

  1. Extending juvenility in grasses

    Energy Technology Data Exchange (ETDEWEB)

    Kaeppler, Shawn; de Leon Gatti, Natalia; Foerster, Jillian

    2017-04-11

    The present invention relates to compositions and methods for modulating the juvenile to adult developmental growth transition in plants, such as grasses (e.g. maize). In particular, the invention provides methods for enhancing agronomic properties in plants by modulating expression of GRMZM2G362718, GRMZM2G096016, or homologs thereof. Modulation of expression of one or more additional genes which affect juvenile to adult developmental growth transition such as Glossy15 or Cg1, in conjunction with such modulation of expression is also contemplated. Nucleic acid constructs for down-regulation of GRMZM2G362718 and/or GRMZM2G096016 are also contemplated, as are transgenic plants and products produced there from, that demonstrate altered, such as extended juvenile growth, and display associated phenotypes such as enhanced yield, improved digestibility, and increased disease resistance. Plants described herein may be used, for example, as improved forage or feed crops or in biofuel production.

  2. DERMATOMIOSITIS JUVENIL Y EMBARAZO

    OpenAIRE

    Evans M,Gregorio; Poulsen R,Ronald; Blanco R,Romiely; Luna V,Viviana

    2002-01-01

    La dermatomiositis juvenil es un desorden inflamatorio crónico multisistémico del tejido conectivo. Tiene una incidencia de 2-3/100.000/año. Con la disminución en la mortalidad experimentada en los últimos decenios, la atención está cifrada en la morbilidad a largo plazo y en las alteraciones funcionales. Con un tratamiento agresivo los niños con dermatomiositis juvenil generalmente tienen un futuro promisorio, sin incapacidad o con incapacidad mínima. La mortalidad actualmente se estima cerc...

  3. Juvenile idiopatiske inflammatoriske myopatier

    Directory of Open Access Journals (Sweden)

    Helga Sanner

    2009-10-01

    Full Text Available Juvenile idiopathic inflammatory myopathies (JIIM is a group of rare autoimmune systemic diseases in children and adolescents, characterized by chronic skeletal muscle inflammation. Unlike in adults, dermatomyositis (JDM is by far the most common of the idiopathic inflammatory myopathies in children and adolescents. The hallmark of JDM is calcinosis, lipodystrophy and vasculitis, findings that differs the juvenile form of dermatomyosits from the adult form. JDM is still diagnosed and classified by Bohan and Peter’s criteria from 1975. There are limited data on long time outcome of this disease

  4. Juvenile Battens Disease.

    Science.gov (United States)

    Gayton, Romayne

    1987-01-01

    Ten children diagnosed with juvenile Battens disease were tested over a three-year period in general intelligence, memory, listening and speech, motor skills, and general learning. Results showed that the patients followed a predetermined pattern but that the time span for development of memory, communication, and behavior problems varied greatly.…

  5. Juvenile Victimization and Delinquency.

    Science.gov (United States)

    Esbensen, Finn-Aage; Huizinga, David

    1991-01-01

    Demographic characteristics of juvenile victims of crime and a potential relationship between victimization and self-reported delinquency are examined for 877 adolescents from a large midwestern city. Lifetime victimization rates (LVRs) are higher for those involved in delinquency, and LVRs rise with age and higher levels of delinquent behavior.…

  6. Juvenile Battens Disease.

    Science.gov (United States)

    Gayton, Romayne

    1987-01-01

    Ten children diagnosed with juvenile Battens disease were tested over a three-year period in general intelligence, memory, listening and speech, motor skills, and general learning. Results showed that the patients followed a predetermined pattern but that the time span for development of memory, communication, and behavior problems varied greatly.…

  7. Juvenile idiopathic arthritis

    NARCIS (Netherlands)

    Prakken, Berent; Albani, Salvatore; Martini, Alberto

    2011-01-01

    Juvenile idiopathic arthritis is a heterogeneous group of diseases characterised by arthritis of unknown origin with onset before age of 16 years. Pivotal studies in the past 5 years have led to substantial progress in various areas, ranging from disease classification to new treatments. Gene expres

  8. Late Onset Juvenile Xanthogranuloma

    Directory of Open Access Journals (Sweden)

    Punithwavathy K

    1999-01-01

    Full Text Available A 19 year old female was seen with multiple skin coloured and hyperpigmented macules, discrete as well as grouped papules and nodules of varying sizes distributed over the face, neck, extensor and flexor aspects of both upper and lower extremities including joints. The trunk was spared. Some of the lesions showed features of spontaneous regression. Investigations confirmed the diagnosis of juvenile xanthogranuloma. Lesions regressed satisfactorily with liquid nitrogen cryotherapy.

  9. Juvenile Incarceration and Health

    OpenAIRE

    Barnert, ES; R Perry; Morris, RE

    2015-01-01

    © 2015. Addressing the health status and needs of incarcerated youth represents an issue at the nexus of juvenile justice reform and health care reform. Incarcerated youth face disproportionately higher morbidity and higher mortality compared to the general adolescent population. Dental health, reproductive health, and mental health needs are particularly high, likely as a result of lower access to care, engagement in high-risk behaviors, and underlying health disparities. Violence exposure a...

  10. Juvenile Ultracool Dwarfs

    CERN Document Server

    Rice, Emily L; Cruz, Kelle; Barman, Travis; Looper, Dagny; Malo, Lison; Mamajek, Eric E; Metchev, Stanimir; Shkolnik, Evgenya L

    2011-01-01

    Juvenile ultracool dwarfs are late spectral type objects (later than ~M6) with ages between 10 Myr and several 100 Myr. Their age-related properties lie intermediate between very low mass objects in nearby star-forming regions (ages 1-5 Myr) and field stars and brown dwarfs that are members of the disk population (ages 1-5 Gyr). Kinematic associations of nearby young stars with ages from ~10-100 Myr provide sources for juvenile ultracool dwarfs. The lowest mass confirmed members of these groups are late-M dwarfs. Several apparently young L dwarfs and a few T dwarfs are known, but they have not been kinematically associated with any groups. Normalizing the field IMF to the high mass population of these groups suggests that more low mass (mainly late-M and possibly L dwarf) members have yet to be found. The lowest mass members of these groups, along with low mass companions to known young stars, provide benchmark objects with which spectroscopic age indicators for juvenile ultracool dwarfs can be calibrated and...

  11. Genetics Home Reference: juvenile idiopathic arthritis

    Science.gov (United States)

    ... Home Health Conditions juvenile idiopathic arthritis juvenile idiopathic arthritis Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Juvenile idiopathic arthritis refers to a group of conditions involving joint ...

  12. Genetics Home Reference: juvenile primary osteoporosis

    Science.gov (United States)

    ... Home Health Conditions juvenile primary osteoporosis juvenile primary osteoporosis Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of ...

  13. Genetics Home Reference: juvenile myoclonic epilepsy

    Science.gov (United States)

    ... Home Health Conditions juvenile myoclonic epilepsy juvenile myoclonic epilepsy Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). ...

  14. Juvenile Justice Bulletin: Aftercare Services. Juvenile Justice Practices Series.

    Science.gov (United States)

    Gies, Steve V.

    This bulletin examines aftercare services that provide youth with comprehensive health, education, family, and vocational services upon their release from the juvenile justice system. Aftercare can be defined as reintegrative services that prepare out-of-home placed juveniles for reentry into the community by reestablishing the necessary…

  15. Miastenia gravis juvenil Juvenile myasthenia gravis

    Directory of Open Access Journals (Sweden)

    Oscar Papazian

    2009-01-01

    Full Text Available La miastenia gravis juvenil (MGJ es un trastorno crónico auto inmune en el cual existen anticuerpos séricos que al unirse a los receptores de acetilcolin nicotínicos de la membrana muscular de la placa motora alteran la transmisión neuromuscular. El resultado es fatiga muscular precoz con progresión a la parálisis durante estados de contracción muscular iterativos (movimientos o sostenidos (posturas y más raramente parálisis permanente durante el reposo. Los músculos inervados por los nervios craneales, especialmente los extraoculares y elevadores de los párpados, tienen más tendencia a la debilidad muscular persistente que los inervados por otros pares craneales y las extremidades. Las formas clínicas de presentación son generalizadas, oculares y respiratorias. El diagnóstico se sospecha mediante la anamnesia, la fatiga anormal se comprueba mediante el examen físico y la estimulación eléctrica iterativa del nervio que inerva al músculo afectado pero no paralizado. Se corrobora mediante la administración de inhibidores de la acetilcolin esterasa (IACE que al aumentar la cantidad de acetilcolin en la hendidura sináptica, corrigen la fatiga o la debilidad muscular transitoriamente. Se hace el diagnóstico de certeza mediante la demostración sérica de anticuerpos contra los receptores de acetilcolin (ACRA. El tratamiento es a largo plazo sintomático con IACE y etiopatogénico con inmunosupresores, plasmaféresis, gamma globulina endovenosa y timectomía. El curso es crónico. La remisión espontánea o después de tratamiento sintomático o etiopatogénico ocurre entre 1-10 años respectivamente. La mortalidad es prácticamente nula aun durantes las crisis miastenias gracias a la educación de padres, pacientes y público en general sobre el tema, al desarrollo del sistema de respuesta rápida de auxilio domiciliario y las unidades de cuidados intensivos y el empleo de la ventilación asistida profiláctica, plasmaféresis y

  16. Juvenile Dermatomyositis in Pregnancy

    Directory of Open Access Journals (Sweden)

    Anthony Emeka Madu

    2013-01-01

    Full Text Available Juvenile dermatomyositis has variable clinical presentations both in and outside of pregnancy. A literature review indicated that optimal maternal and fetal outcomes can be anticipated when the pregnancy is undertaken while the disease is in remission. Poorer outcomes are associated with flare-up of the disease in early pregnancy compared with exacerbation in the second or third trimester, when fetal prognosis is usually good. We present a case of JDM in pregnancy with disease exacerbation late in pregnancy and review of the relevant literature.

  17. Juvenile dermatomyositis in pregnancy.

    Science.gov (United States)

    Madu, Anthony Emeka; Omih, Edwin; Baguley, Elaine; Lindow, Stephen W

    2013-01-01

    Juvenile dermatomyositis has variable clinical presentations both in and outside of pregnancy. A literature review indicated that optimal maternal and fetal outcomes can be anticipated when the pregnancy is undertaken while the disease is in remission. Poorer outcomes are associated with flare-up of the disease in early pregnancy compared with exacerbation in the second or third trimester, when fetal prognosis is usually good. We present a case of JDM in pregnancy with disease exacerbation late in pregnancy and review of the relevant literature.

  18. Juvenile hyaline fibromatosis.

    Science.gov (United States)

    Larralde, M; Santos-Muñoz, A; Calb, I; Magariños, C

    2001-01-01

    Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disease with onset in infancy or early childhood. It is characterized by papulonodular skin lesions, soft tissue masses, gingival hypertrophy, and flexion contractures of the large joints. The light and electron microscopic features are very distinctive. Here we report an 8-month-old boy with characteristic stiffness of the knees and elbows and pink confluent papules on the paranasal folds, and periauricular and perianal regions. He also had hard nodules all over the scalp and around the mouth, and severe gingival hypertrophy. Histologic and ultrastructural features were typical of JHF. Clinical features, pathology, and physiology are discussed.

  19. Juvenile Justice in Rural America.

    Science.gov (United States)

    Jankovic, Joanne, Ed.; And Others

    Producing a much-needed organized body of literature about rural juvenile justice, 14 papers (largely from the 1979 National Symposium on Rural Justice) are organized to identify current issues, identify forces causing changes in current systems, review programs responding to rural juvenile justice problems, and provide planning models to aid…

  20. Juvenile arthritis and uveitis.

    Science.gov (United States)

    Kanski, J J

    1990-01-01

    The association between juvenile arthritis and uveitis is reviewed. Some children with the HLA-B27 related spondyloarthropathies develop anterior uveitis. About 20% of patients with juvenile rheumatoid arthritis (JRA) who are negative for IgM rheumatoid factor develop a frequently bilateral, nongranulomatous chronic anterior uveitis. Risk factors for uveitis in JRA patients are: female gender, pauciarticular onset of arthritis, presence of circulating antinuclear antibodies, and the antigens HLA-DW5 and HLA-DPw2. Uveitis is rare after seven years or more have elapsed from the onset of arthritis. The visual prognosis in patients with uveitis is good in 25% and fair in 50%. The remaining 25% develop visual impairment from complicated cataract and/or secondary inflammatory glaucoma. The potential benefit of cytotoxic agents in the treatment of intractable uveitis is outweighed by the risk of serious side effects. The management of secondary inflammatory glaucoma is unsatisfactory, but the results of treatment of complicated cataracts by lensectomy-vitrectomy are good.

  1. Aggressive juvenile mandibular fibromatosis.

    Science.gov (United States)

    Ivanov, Georgi P; Atanasov, Dimitar T; Anavi, Beniamin L

    2013-01-01

    Aggressive juvenile fibromatosis of the jawbones is a rare tumor presenting as infiltrative mass with unpredictable evolution. We report herein a 17-year-old student with a 6-month history of radiologically proven resorption of a part of the mandible, lingual displacement of tooth 34 and malocclusion. Alveolar ridge resorption and three dark-brown foci in the bone were seen after the tooth was extracted. Histological study showed the tumor tissue to have a bundle-like structure; immunohistochemically it was positive for vimentin, smooth muscle actin, beta-catenin, Ki-67 (5%), and negative for desmin and cytokeratin 34bE12. The golden standard in the diagnostics of desmoid fibromatoses is the nuclear or membrane expression of beta-catenin, which is found in 90% of the cases. Differential diagnosis include mandibular fibroma, well-differentiated fibrosarcoma, fibrosing histiocytoma, and infiltration from adjacent soft-tissue tumor. Aggressive juvenile fibromatosis should be managed by radical excision. Local recurrences are not rare, but metastases do not develop. In rare cases this type of fibromatosis has been known to regress spontaneously. Aggressive fibromatosis is a diagnostic challenge, since it remains in the grey zone between benign and malignant lesions of the oral cavity.

  2. The Link Between Lysosomal Storage Disorders and More Common Diseases

    Directory of Open Access Journals (Sweden)

    Michael Beck MD

    2016-12-01

    Full Text Available In the last decades, it has become more and more evident that lysosomal storage disorders and common neurodegenerative diseases such as Alzheimer and Parkinson diseases have clinical, neuropathological, and genetic features in common, including lysosomal dysfunction and impaired autophagy. Patients with Gaucher and even carriers of Gaucher disease have an increased risk to develop Parkinson disease. Likewise, individuals who are heterozygous for a mutation of a gene that causes an adult form of neuronal ceroid lipofuscinosis are more likely to be affected by a form of frontotemporal dementia in their later life. A further example is the gene NAGLU encoding the enzyme α- N -acetylglucosaminidase, which is deficient in patients with mucopolysaccharidosis type IIIB. Mutations of the NAGLU gene have been observed in patients affected by an axonal neuropathy. An interesting unexpected finding was the link between stuttering and genes that are essential for the function of all lysosomal enzymes. This review will present some example of the association of lysosomal storage disorders and neurodegenerative disease and discuss possible pathogenic mechanisms that are common to both conditions. The understanding of the pathophysiology of the endosomal–lysosomal–autophagic system may help to develop drugs, which might provide benefit not only for patients with rare lysosomal storage disorders but also for individuals affected by more common diseases.

  3. A model of tripeptidyl-peptidase I (CLN2, a ubiquitous and highly conserved member of the sedolisin family of serine-carboxyl peptidases

    Directory of Open Access Journals (Sweden)

    Oyama Hiroshi

    2003-11-01

    Full Text Available Abstract Background Tripeptidyl-peptidase I, also known as CLN2, is a member of the family of sedolisins (serine-carboxyl peptidases. In humans, defects in expression of this enzyme lead to a fatal neurodegenerative disease, classical late-infantile neuronal ceroid lipofuscinosis. Similar enzymes have been found in the genomic sequences of several species, but neither systematic analyses of their distribution nor modeling of their structures have been previously attempted. Results We have analyzed the presence of orthologs of human CLN2 in the genomic sequences of a number of eukaryotic species. Enzymes with sequences sharing over 80% identity have been found in the genomes of macaque, mouse, rat, dog, and cow. Closely related, although clearly distinct, enzymes are present in fish (fugu and zebra, as well as in frogs (Xenopus tropicalis. A three-dimensional model of human CLN2 was built based mainly on the homology with Pseudomonas sp. 101 sedolisin. Conclusion CLN2 is very highly conserved and widely distributed among higher organisms and may play an important role in their life cycles. The model presented here indicates a very open and accessible active site that is almost completely conserved among all known CLN2 enzymes. This result is somehow surprising for a tripeptidase where the presence of a more constrained binding pocket was anticipated. This structural model should be useful in the search for the physiological substrates of these enzymes and in the design of more specific inhibitors of CLN2.

  4. Involvement of the mitochondrial compartment in human NCL fibroblasts

    Energy Technology Data Exchange (ETDEWEB)

    Pezzini, Francesco; Gismondi, Floriana [Department of Neurological, Psychological, Morphological and Motor Sciences, Divisions of Neurology (Child Neurology) and Neuropathology, University of Verona Medical School, Verona (Italy); Tessa, Alessandra [IRCCS Fondazione Stella Maris-Molecular Medicine Unit, Pisa (Italy); Tonin, Paola [Department of Neurological, Psychological, Morphological and Motor Sciences, Divisions of Neurology (Child Neurology) and Neuropathology, University of Verona Medical School, Verona (Italy); Carrozzo, Rosalba [IRCCS Bambino Gesu Hospital-Molecular Medicine Unit, Roma (Italy); Mole, Sara E. [MRC Laboratory for Molecular Cell Biology, Molecular Medicines Unit, UCL Institute of Child Health and Department of Genetics, Evolution and Environment, University College London (United Kingdom); Santorelli, Filippo M. [IRCCS Fondazione Stella Maris-Molecular Medicine Unit, Pisa (Italy); Simonati, Alessandro, E-mail: alessandro.simonati@univr.it [Department of Neurological, Psychological, Morphological and Motor Sciences, Divisions of Neurology (Child Neurology) and Neuropathology, University of Verona Medical School, Verona (Italy)

    2011-12-09

    Highlights: Black-Right-Pointing-Pointer Mitochondrial reticulum fragmentation occurs in human CLN1 and CLN6 fibroblasts. Black-Right-Pointing-Pointer Likewise mitochondrial shift-to periphery and decreased mitochondrial density are seen. Black-Right-Pointing-Pointer Enhanced caspase-mediated apoptosis occurs following STS treatment in CLN1 fibroblasts. -- Abstract: Neuronal ceroid lipofuscinosis (NCL) are a group of progressive neurodegenerative disorders of childhood, characterized by the endo-lysosomal storage of autofluorescent material. Impaired mitochondrial function is often associated with neurodegeneration, possibly related to the apoptotic cascade. In this study we investigated the possible effects of lysosomal accumulation on the mitochondrial compartment in the fibroblasts of two NCL forms, CLN1 and CLN6. Fragmented mitochondrial reticulum was observed in all cells by using the intravital fluorescent marker Mitotracker, mainly in the perinuclear region. This was also associated with intense signal from the lysosomal markers Lysotracker and LAMP2. Likewise, mitochondria appeared to be reduced in number and shifted to the cell periphery by electron microscopy; moreover the mitochondrial markers VDCA and COX IV were reduced following quantitative Western blot analysis. Whilst there was no evidence of increased cell death under basal condition, we observed a significant increase in apoptotic nuclei following Staurosporine treatment in CLN1 cells only. In conclusion, the mitochondrial compartment is affected in NCL fibroblasts invitro, and CLN1 cells seem to be more vulnerable to the negative effects of stressed mitochondrial membrane than CLN6 cells.

  5. The Link Between Lysosomal Storage Disorders and More Common Diseases

    Directory of Open Access Journals (Sweden)

    Michael Beck MD

    2016-12-01

    Full Text Available In the last decades, it has become more and more evident that lysosomal storage disorders and common neurodegenerative diseases such as Alzheimer and Parkinson diseases have clinical, neuropathological, and genetic features in common, including lysosomal dysfunction and impaired autophagy. Patients with Gaucher and even carriers of Gaucher disease have an increased risk to develop Parkinson disease. Likewise, individuals who are heterozygous for a mutation of a gene that causes an adult form of neuronal ceroid lipofuscinosis are more likely to be affected by a form of frontotemporal dementia in their later life. A further example is the gene NAGLU encoding the enzyme α-N-acetylglucosaminidase, which is deficient in patients with mucopolysaccharidosis type IIIB. Mutations of the NAGLU gene have been observed in patients affected by an axonal neuropathy. An interesting unexpected finding was the link between stuttering and genes that are essential for the function of all lysosomal enzymes. This review will present some example of the association of lysosomal storage disorders and neurodegenerative disease and discuss possible pathogenic mechanisms that are common to both conditions. The understanding of the pathophysiology of the endosomal–lysosomal–autophagic system may help to develop drugs, which might provide benefit not only for patients with rare lysosomal storage disorders but also for individuals affected by more common diseases.

  6. Rapid and Progressive Regional Brain Atrophy in CLN6 Batten Disease Affected Sheep Measured with Longitudinal Magnetic Resonance Imaging.

    Directory of Open Access Journals (Sweden)

    Stephen J Sawiak

    Full Text Available Variant late-infantile Batten disease is a neuronal ceroid lipofuscinosis caused by mutations in CLN6. It is a recessive genetic lysosomal storage disease characterised by progressive neurodegeneration. It starts insidiously and leads to blindness, epilepsy and dementia in affected children. Sheep that are homozygous for a natural mutation in CLN6 have an ovine form of Batten disease Here, we used in vivo magnetic resonance imaging to track brain changes in 4 unaffected carriers and 6 affected Batten disease sheep. We scanned each sheep 4 times, between 17 and 22 months of age. Cortical atrophy in all sheep was pronounced at the baseline scan in all affected Batten disease sheep. Significant atrophy was also present in other brain regions (caudate, putamen and amygdala. Atrophy continued measurably in all of these regions during the study. Longitudinal MRI in sheep was sensitive enough to measure significant volume changes over the relatively short study period, even in the cortex, where nearly 40% of volume was already lost at the start of the study. Thus longitudinal MRI could be used to study the dynamics of progression of neurodegenerative changes in sheep models of Batten disease, as well as to assess therapeutic efficacy.

  7. Rapid and Progressive Regional Brain Atrophy in CLN6 Batten Disease Affected Sheep Measured with Longitudinal Magnetic Resonance Imaging.

    Science.gov (United States)

    Sawiak, Stephen J; Perumal, Sunthara Rajan; Rudiger, Skye R; Matthews, Loren; Mitchell, Nadia L; McLaughlan, Clive J; Bawden, C Simon; Palmer, David N; Kuchel, Timothy; Morton, A Jennifer

    2015-01-01

    Variant late-infantile Batten disease is a neuronal ceroid lipofuscinosis caused by mutations in CLN6. It is a recessive genetic lysosomal storage disease characterised by progressive neurodegeneration. It starts insidiously and leads to blindness, epilepsy and dementia in affected children. Sheep that are homozygous for a natural mutation in CLN6 have an ovine form of Batten disease Here, we used in vivo magnetic resonance imaging to track brain changes in 4 unaffected carriers and 6 affected Batten disease sheep. We scanned each sheep 4 times, between 17 and 22 months of age. Cortical atrophy in all sheep was pronounced at the baseline scan in all affected Batten disease sheep. Significant atrophy was also present in other brain regions (caudate, putamen and amygdala). Atrophy continued measurably in all of these regions during the study. Longitudinal MRI in sheep was sensitive enough to measure significant volume changes over the relatively short study period, even in the cortex, where nearly 40% of volume was already lost at the start of the study. Thus longitudinal MRI could be used to study the dynamics of progression of neurodegenerative changes in sheep models of Batten disease, as well as to assess therapeutic efficacy.

  8. A replacement of the active-site aspartic acid residue 293 in mouse cathepsin D affects its intracellular stability, processing and transport in HEK-293 cells.

    Science.gov (United States)

    Partanen, Sanna; Storch, Stephan; Löffler, Hans-Gerhard; Hasilik, Andrej; Tyynelä, Jaana; Braulke, Thomas

    2003-01-01

    The substitution of an active-site aspartic acid residue by asparagine in the lysosomal protease cathepsin D (CTSD) results in a loss of enzyme activity and severe cerebrocortical atrophy in a novel form of neuronal ceroid lipofuscinosis in sheep [Tyynelä, Sohar, Sleat, Gin, Donnelly, Baumann, Haltia and Lobel (2000) EMBO J. 19, 2786-2792]. In the present study we have introduced the corresponding mutation by replacing aspartic acid residue 293 with asparagine (D293N) into the mouse CTSD cDNA to analyse its effect on synthesis, transport and stability in transfected HEK-293 cells. The complete inactivation of mutant D293N mouse CTSD was confirmed by a newly developed fluorimetric quantification system. Moreover, in the heterologous overexpression systems used, mutant D293N mouse CTSD was apparently unstable and proteolytically modified during early steps of the secretory pathway, resulting in a loss of mass by about 1 kDa. In the affected sheep, the endogenous mutant enzyme was stable but also showed the shift in its molecular mass. In HEK-293 cells, the transport of the mutant D293N mouse CTSD to the lysosome was delayed and associated with a low secretion rate compared with wild-type CTSD. These data suggest that the mutation may result in a conformational change which affects stability, processing and transport of the enzyme. PMID:12350228

  9. Peptidase Activities of Tripeptidyl Peptidase Ⅰ(TPP Ⅰ): Exopeptidase and Endopeptidase

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    The defect of TPP Ⅰ causes a disease, late infantile neuronal ceroid lipofuscinosis(LINCL, CLN2). To investigate the bio-activity of tripeptidyl peptidase Ⅰ(TPP Ⅰ) from rat kidneys, the effects of digestion of angiotensin Ⅱ(Ang Ⅱ) and a synthetic endo-type substrate(Gly1-Lys-Pro-Iie-Pro5-Phe-Phe-Arg-Leu-Lys10) via TPP Ⅰ were analyzed by HPLC and TOF-MS. The data suggest that the degradation rate of Ang Ⅱ can reach 18.2% by the rat TPP Ⅰ and DRV(Asp-Arg-Val) can be released from N-termini of Ang Ⅱ within 16 h. In addition, the synthetic endo-type substrate is cleaved at the same position between Phe6 and Phe7. Accordingly, TPP Ⅰ shows two kinds of peptidase activities. One is a tripeptidyl peptidase activity and the other is a pepstatin insensitive carboxyl endopeptidase activity. Tripeptidyl peptidase activity and pepstatin insensitive carboxyl endopeptidase activity seem to be dual phases of one enzyme, TPP Ⅰ.

  10. Efficient construction of a physical map by Fiber-FISH of the CLN5 region: Refined assignment and long-range contig covering the critical region on 13q22

    Energy Technology Data Exchange (ETDEWEB)

    Klockars, T.; Savukoski, M.; Isosomppi, J. [National Public Health Institute, Helsinki (Finland)] [and others

    1996-07-01

    The variant form of late infantile neuronal ceroid lipofuscinosis (vLINCL, locus definition CLN5) represents a progressive brain disease with autosomal recessive inheritance. We have previously assigned the CLN5 locus to chromosome 13q21.1-132 between markers D13S160 and D13S162 by linkage analysis in Finnish families. The information on ancient recombination events obtained from linkage disequilibrium provided an efficient tool for further refining the assignment of the CLN5 locus. Isolation of two novel (CA){sub n} markers, COLAC1 and AC224, resulted in a dramatic restriction of the critical DNA region. We utilized the Fiber-FISH technique to orient and order the large DNA clones isolated by STSs and were able to eliminate almost totally the restriction digestion and PFGE step in the construction of the long-range DNA contig. Both linkage disequilibrium data and Fiber-FISH analyses assigned the CLN5 locus to a well-defined 200-kb region. Here we report a complete physical map of about 350 kb covering the critical chromosomal region of CLN5, which will facilitate the final isolation of the CLN5 gene. 31 refs., 4 figs., 2 tabs.

  11. Management Strategies for CLN2 Disease.

    Science.gov (United States)

    Williams, Ruth E; Adams, Heather R; Blohm, Martin; Cohen-Pfeffer, Jessica L; de Los Reyes, Emily; Denecke, Jonas; Drago, Kristen; Fairhurst, Charlie; Frazier, Margie; Guelbert, Norberto; Kiss, Szilárd; Kofler, Annamaria; Lawson, John A; Lehwald, Lenora; Leung, Mary-Anne; Mikhaylova, Svetlana; Mink, Jonathan W; Nickel, Miriam; Shediac, Renée; Sims, Katherine; Specchio, Nicola; Topcu, Meral; von Löbbecke, Ina; West, Andrea; Zernikow, Boris; Schulz, Angela

    2017-04-01

    CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindness, and early death. No management guidelines exist and there is a paucity of published disease-specific evidence to inform clinical practice, which currently draws upon experience from the field of childhood neurodisability. Twenty-four disease experts were surveyed on CLN2 disease management and a subset met to discuss current practice. Management goals and strategies are consistent among experts globally and are guided by the principles of pediatric palliative care. Goals and interventions evolve as the disease progresses, with a shift in focus from maintenance of function early in the disease to maintenance of quality of life. A multidisciplinary approach is critical for optimal patient care. This work represents an initial step toward the development of consensus-based management guidelines for CLN2 disease. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  12. 神经元蜡样质脂褐质沉积症诊策略和治疗进展

    Institute of Scientific and Technical Information of China (English)

    任晓暾

    2012-01-01

    神经元蜡样质脂褐质沉积症(neuronal ceroid lipofuscinosis,NCL)是一组神经元变性、溶酶体贮积的常染色体隐性遗传病.国外资料显示,发病率在1.3/10万~7.0/10万之间[1],我国尚无明确统计数据.NCL主要临床特征是进行性运动智能衰退、顽固性癫痫发作和进行性视力下降.本病除神经系统症状外,尚有其他组织广泛受累.主要病理改变是严重脑萎缩,广泛的神经元变性丢失,残存胞浆溶酶体有自发荧光的脂色素蓄积,蓄积物是蜡样质和脂褐质.

  13. 神经元蜡样质脂褐质沉积病1例

    Institute of Scientific and Technical Information of China (English)

    张夏婷

    2010-01-01

    @@ 神经元蜡样质脂褐质沉积病(neuronal ceroid lipofuscinosis,NCL)是一组儿童常见的进行性遗传性中枢神经系统变性病,呈常染色体隐形遗传.多于儿童期起病,偶见于成年人.临床特点主要包括智能减退、难治性癫痫和进行性视力下降.病理检查最为重要的结果是以大脑和小脑皮层为著的神经细胞变性以及神经和周围组织细胞内出现自发荧光性脂褐素沉积[1],是诊断NCL的金标准.现就我院依靠病理明确临床分型NCL患者的临床资料报道如下.

  14. Juvenile justice mental health services.

    Science.gov (United States)

    Thomas, Christopher R; Penn, Joseph V

    2002-10-01

    As the second century of partnership begins, child psychiatry and juvenile justice face continuing challenges in meeting the mental health needs of delinquents. The modern juvenile justice system is marked by a significantly higher volume of cases, with increasingly complicated multiproblem youths and families with comorbid medical, psychiatric, substance abuse disorders, multiple family and psychosocial adversities, and shrinking community resources and alternatives to confinement. The family court is faced with shrinking financial resources to support court-ordered placement and treatment programs in efforts to treat and rehabilitate youths. The recognition of high rates of mental disorders for incarcerated youth has prompted several recommendations for improvement and calls for reform [56,57]. In their 2000 annual report, the Coalition for Juvenile Justice advocated increased access to mental health services that provide a continuum of care tailored to the specific problems of incarcerated youth [58]. The specific recommendations of the report for mental health providers include the need for wraparound services, improved planning and coordination between agencies, and further research. The Department of Justice, Office of Juvenile Justice and Delinquency Prevention has set three priorities in dealing with the mental health needs of delinquents: further research on the prevalence of mental illness among juvenile offenders, development of mental health screening assessment protocols, and improved mental health services [59]. Other programs have called for earlier detection and diversion of troubled youth from juvenile justice to mental health systems [31,56]. Most recently, many juvenile and family courts have developed innovative programs to address specific problems such as truancy or substance use and diversionary or alternative sentencing programs to deal with first-time or nonviolent delinquents. All youths who come in contact with the juvenile justice system

  15. Miranda Rights: Implications for Juveniles with Disabilities

    Science.gov (United States)

    Katsiyannis, Antonis; Barrett, David E.; Losinski, Mickey L.

    2011-01-01

    Juvenile delinquency in the United States has been a persistent concern for decades. Consequently, because more juveniles have been referred to juvenile court and the arrest rate of preteen offenders has increased to almost three times that of older youth, the persistent and often controversial issue of the capacity of juvenile offenders to waive…

  16. Juvenile prison in parallel legislation

    Directory of Open Access Journals (Sweden)

    Lutovac Mitar

    2016-01-01

    Full Text Available The need for punishment of juveniles occurred from the time when there was no clear line separating them from the adult criminal population. At the same time, the evolution of the juvenile punishment is not in itself involve substantial changes to their criminal status. On the contrary, the status of minors in society did not show serious differences regarding the status of young adults, as well as the adult elderly. On the other hand, on the ground of their punishment is recorded deviations that go in the direction of application of mild corporal punishment. Closing the minor was performed in a physically separate parts of the general penal institutions with the use of a lower degree of restrictions while serving juvenile prison. Due to the different treatment of minors during the evolution of their criminal status leads to their different treatment in comparative law. That is why we are witnessing the existence of numerous differences in the juvenile punishment in some countries in the world. On the European continent there is a wide range of different legal solutions when it comes to punishing juveniles. There are considerable differences in the procedure pronouncing juvenile prison and in particular penal treatment of juveniles in penitentiary institutions. For these reasons, the author has decided to show the basic statutory provisions in the part that relates to the issue of punishment of minors in the legislation of individual countries.

  17. Update on juvenile myasthenia gravis.

    Science.gov (United States)

    Liew, Wendy K M; Kang, Peter B

    2013-12-01

    Juvenile myasthenia gravis is a relatively rare autoimmune neuromuscular disorder. The pathophysiology of juvenile myasthenia gravis is similar to that of adult myasthenia gravis, though there remain important differences regarding presentation and therapeutic options. We review the pathophysiology, clinical presentation, and treatment options for juvenile myasthenia gravis. Randomized clinical studies of myasthenia gravis have been carried out primarily in adult populations. As juvenile myasthenia gravis is rare, it has been difficult to collect prospective randomized controlled data to evaluate treatment outcomes and efficacy. A recent retrospective series suggests that, as in adult myasthenia gravis, thymectomy is a viable therapeutic option for selected cases of generalized juvenile myasthenia gravis. This is corroborated by the clinical experience of the authors in a referral center with a cohort of patients affected by juvenile myasthenia gravis over a number of years. Recent studies illustrate that some, but not all, adult research on myasthenia gravis is applicable to children and adolescents with juvenile myasthenia gravis. Adult research can inform pediatric studies, but should not be regarded as a substitute for dedicated research in those populations.

  18. Juvenile chronic arthritis.

    Science.gov (United States)

    Southwood, T R; Woo, P

    1995-05-01

    The nomenclature and classification criteria for arthritis in children should be dealt with initially as separate issues, although they are undoubtedly intertwined. The classification criteria should aim to delineate homogeneous patient populations, yet should be flexible enough to incorporate advances in disease knowledge. It should be recognized that arriving at an international consensus for classification criteria will merely provide a set of operational definitions to facilitate research, and not a set of diagnostic criteria. Indeed the only point to obtaining consensus is to begin a process of systematic ongoing review of the criteria. The labels attached to any of these diseases should facilitate accurate communication. In view of the heterogeneous nature of childhood arthritis, consideration should be given to using a broad umbrella term such as juvenile or childhood arthritis only for communicating with the lay public. Medical nomenclature should be formulated to reflect accurately homogeneous subgroups of arthritis, and should not artificially proscribe a relationship between paediatric and adult disease.

  19. [Juvenile idiopathic arthritis].

    Science.gov (United States)

    Herlin, Troels

    2002-08-19

    The new classification of juvenile idiopathic arthritis (JIA) is described in this review. Clinical characteristics divide JIA in to subtypes: systemic, oligoarticular (persistent and extended type), RF-positive and--negative polyarticular, enthesitis-related arthritis and psoriatic arthritis. In addition to the clinical characteristics, genetic and biochemical differences suggest that JIA could be regarded as a general term covering various diseases. Complications described are uveitis, temporomandibular joint affection and growth disturbances. The therapeutic strategy should be planned individually according to age, subtype and disease activity and carried out as teamwork with several specialties. Drugs showing significant effectiveness in controlled studies are primarily methotrexate and sulphasalazine. An immunomodulating agent, etanercept, a soluble TNF alpha-receptor fusion protein, has shown a promising effect in severe polyarticular JIA refractory to methotrexate treatment.

  20. Juvenile hyaline fibromatosis

    Directory of Open Access Journals (Sweden)

    Jayashree Krishnamurthy

    2011-01-01

    Full Text Available Juvenile hyaline fibromatosis is a rare, autosomal-recessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees. It is a connective tissue disorder with aberrant synthesis of glycosaminoglycans by fibroblasts. We report a 5-year-old female born of first-degree consanguineous marriage who presented with multiple, recurrent, painless, variable-sized nodules. Fine needle aspiration cytology smears and the subsequent histopathological examination from the nodules showed benign spindle cells in a Periodic acid Schiff-positive myxoid background. The disease has a relentlessly progressive course, with most patients surviving only up to the 4 th decade. As of now, there is no specific treatment for this disorder. Genetic counseling is essential to explain to parents about a 25% chance of having a diseased baby in any pregnancy. With the gene being mapped recently, techniques for antenatal diagnosis are likely to be established.

  1. [JUVENILE DERMATOMYOSITIS AND CALCINOSIS].

    Science.gov (United States)

    Zhvania, M

    2015-01-01

    Juvenile Dermatomiositis (JD) is autoimmune disease that progresses with time; JD's main differentiated syndromes are rash on the skin, poor function of muscles, and often developing invalidism. If the health practitioners manage to diagnose the JD on an early stage and prescribe the adequate treatment the disease will not progress aggressively. This approach is tangible for practical rheumatology and pediatric. The article aims to present the reasons of the development of the JD and calcinosis. The study based on the description of the patients with JD. There are distinguished the main symptoms of the disease in children: frequent and acute developments of muscles calcinosis, occasionally with diffuse character followed with hypotrophy of the muscles, contractures and invalidism. One of the patient cases that describe the article is the thirteen-year boy with JD indicating repeated sequence of the disease, with diffusive calcinosis, cellulitis followed with secondary infection and impaired vision.

  2. Juvenile idiopathic arthritis

    Directory of Open Access Journals (Sweden)

    Krupa H Bhatt

    2014-01-01

    Full Text Available Juvenile Idiopathic Arthritis (JIA is the most chronic musculoskeletal disease of pediatric population. The chronic course of disease has a great impact on oral health. Temporomandibular joint is involved in JIA causing limited mouth opening with progressive open bite, retrognathia, microgenia and bird like appearance. Joints of upper and lower extremities are also involved. Effect on upper limb function leads to difficulty with fine motor movements required for brushing and flossing. This increases incidence of caries and periodontal disease in children. The cause of JIA is still poorly understood and none of the available drugs for JIA can cure the disease. However, prognosis has improved as a result of progress in disease classification and management. The dental practitioner should be familiar with the symptoms and oral manifestations of JIA to help manage as multidisciplinary management is essential.

  3. Juvenile homosexual homicide.

    Science.gov (United States)

    Myers, Wade C; Chan, Heng Choon Oliver

    2012-01-01

    Limited information exists on juvenile homosexual homicide (JHH), that is, youths who perpetrate sexual homicides against same-sex victims. Only a handful of cases from the United States and internationally have been described in the literature. This study, the first of its kind, examines the epidemiology, victimology, victim-offender relationship, and weapon-use patterns in JHH offenders using a large U.S. database on homicide spanning three decades. The data for this study were derived from the Federal Bureau of Investigation's Supplementary Homicide Reports (SHRs) for the years 1976 through 2005. A total of 93 cases of JHH were identified. On average, three of these crimes occurred annually in the U.S., and there was a marked decline in its incidence over the study period. Ninety-five percent were male offender-male victim cases and 5% were female offender-female victim cases. JHH offenders were over-represented amongst all juvenile sexual murderers, similar to their adult counterparts. The majority of these boys were aged 16 or 17 and killed adult victims. They were significantly more likely to kill adult victims than other age groups, to be friends or acquaintances of the victims, and to use contact/edged weapons or firearms. Most offenders killed same-race victims, although Black offenders were significantly more likely than White offenders to kill interracially. A case report is provided to illustrate JHH. Further research is needed to promote our understanding of the pathogenesis, etiology, and associated risk factors for this aberrant form of murder by children.

  4. Do juvenile Amphiprion ocellaris (Pisces

    DEFF Research Database (Denmark)

    Brolund, Thea Marie; Nielsen, Lis Engdahl; Arvedlund, Michael

    2003-01-01

    . This is contrary to the settling mechanisms of the damselfish D. aruanus and D. reticulatus, and of the temperate herring Clupea harengus. Hence the results emphasize the variation of sensory abilities and behaviours in fish larvae and juveniles. It is not an area prone for generalizations.......Juvenile anemonefish Amphiprion ocellaris were tested in two behavioural laboratory set-ups for their ability to visually or chemically recognize conspecifics. Individuals of two other species of anemonefish, A. clarkii and Dascyllus aruanus, were also used as test specimens for recognition....... The results indicate that juvenile A. ocellaris recognize conspecifics visually rather than by olfaction. This is contrary to their finding mechanism of their host anemone. However, the results also indicate that the juvenile A ocellaris are neither attracted nor deterred by the presence of conspecifics...

  5. Bilateral, independent juvenile nasopharyngeal angiofibroma

    DEFF Research Database (Denmark)

    Mørkenborg, Marie-Louise; Frendø, M; Stavngaard, T;

    2015-01-01

    BACKGROUND: Juvenile nasopharyngeal angiofibroma is a benign, vascular tumour that primarily occurs in adolescent males. Despite its benign nature, aggressive growth patterns can cause potential life-threatening complications. Juvenile nasopharyngeal angiofibroma is normally unilateral, originating...... from the sphenopalatine artery, but bilateral symptoms can occur if a large tumour extends to the contralateral side of the nasopharynx. This paper presents the first reported case of true bilateral extensive juvenile nasopharyngeal angiofibroma involving clinically challenging pre-surgical planning...... embolisation. Radical removal performed as one-step, computer-assisted functional endoscopic sinus surgery was performed. The follow-up period was uncomplicated. CONCLUSION: This case illustrates the importance of suspecting bilateral juvenile nasopharyngeal angiofibroma in patients presenting with bilateral...

  6. Editor's Shelf: International Juvenile Titles.

    Science.gov (United States)

    Mitchell-Powell, Brenda

    1994-01-01

    Provides an annotated list of international juvenile picture books and notes those that emphasize text over pictures. The 49 titles present international perspectives for educators, librarians, and parents seeking materials with alternative cultural content. The majority are folk tales. (SLD)

  7. JUVENILE RHEUMATOID ARTHRITIS

    Directory of Open Access Journals (Sweden)

    I N Sartika

    2012-11-01

    Full Text Available Juvenile rheumatoid arthritis (JRA is the most common rheumatic condition in children. JRA is defined as persistent arthritis in 1 or more joints for at least 6 weeks, with the onset before age 16 years. The etiology of JRA is unknown. Antigen activated CD4+ T cell stimulate monocytes, macrophages, and synovial fibroblasts to produce the cytokines Interleukin-1 (IL-1, IL-6, and tumor necrosis factor ? (TNF-? and to secrete matrix metalloproteinases, which lead to chronic inflammation due to infiltration of inflammatory cell, angiogenesis, destruction of cartilage and bone with pannus formation. The 3 major subtypes of JRA are based on the symptoms at disease onset and are designated systemic onset, pauciarticular onset, and polyarticular onset. For all patients, the goals of therapy are to decrease chronic joint pain and suppress the inflammatory process. Poor prognostic have been observed in patients with polyarticular onset, rheumatoid factor, persistent morning stiffness, tenosynovitis, involvement of the small joints, rapid appearance of erosions, active late onset childhood, subcutaneous nodules, or antinuclear antibody.

  8. Mirror neurons

    National Research Council Canada - National Science Library

    Rubia Vila, Francisco José

    2011-01-01

    Mirror neurons were recently discovered in frontal brain areas of the monkey. They are activated when the animal makes a specific movement, but also when the animal observes the same movement in another animal...

  9. Juveniles tried as adults: the age of the juvenile matters.

    Science.gov (United States)

    Semple, Jaclyn K; Woody, William Douglas

    2011-08-01

    Serious juvenile crimes require evaluation of a child as a criminal defendant in adult court. In such cases, it is crucial to understand jurors' attitudes, biases, and ability to follow legal instructions and maintain fairness. 308 undergraduate psychology students served as mock jurors, were randomly separated into four groups, and each group read the same realistic summary of a trial with the defendant's age presented as 13, 15, 17, or 21 years. Participants were asked to render guilty or not guilty verdicts and, if guilty, to suggest sentences. Chi-squared analysis indicated 13- and 15-year-old defendants were convicted less often than 17- and 21-year-old defendants, showing that jurors distinguished between juvenile defendants of different ages, but not minors and adults as defined by law. Additional analysis showed that age did not affect sentencing recommendations. Decision processes jurors use for juveniles tried as adults are discussed.

  10. Forensic aspects of juvenile violence.

    Science.gov (United States)

    Haller, L H

    2000-10-01

    The juvenile justice system was created because it was recognized that youthful offenders needed to be managed differently from adults. They were to receive habilitation services instead of punishment. It is now more than a century since the creation of the first juvenile court. After 67 years, the US Supreme Court, in Kent v United States stated that the model was not working because juveniles in the criminal justice system received no treatment and they had no rights. Because the issue that had been appealed was the lack of rights (not lack of treatment), the Court mandated that juveniles, like adults, be given certain rights. The following year, in In re Gault, the Court expanded these rights. Subsequent Supreme Court cases have dealt with these kinds of issues--that is, whether juvenile offenders are entitled to the same rights as adults and subject to the same penalties. The Supreme Court has never heard a "right to treatment" case, which is the other part of the juvenile court system. Cases have been brought in lower courts (e.g., Nelson v. Heyne, 1972) alleging inadequate treatment services, but no national impact has resulted. Thus, in general, children in the juvenile court system do not have an enforceable right to treatment and can obtain only what services are available in their jurisdictions. The services often are woefully inadequate. Sentencing a youth to probation, with the requirement that he or she participate in counseling or mental health treatment, is meaningless if services are not available. Community-based, model programs that provide effective treatment do exist. They are, as yet, the rare exception rather than the norm and, therefore, are not available to most youthful offenders. Incarcerated juveniles, obviously, cannot avail themselves of community programs. Litigation to give these youth the same rights as adults in penal institutions is not the answer because incarcerated adults don't have a right to treatment, only a right to be free

  11. The Heterogeneity of Juvenile Myositis

    Science.gov (United States)

    Rider, Lisa G.

    2007-01-01

    Juvenile myositis is a heterogeneous group of systemic autoimmune diseases, in which clinical and serologic subgroups result in subsets of patients with distinct clinical manifestations, disease courses, immunogenetic associations, responses to therapy, and prognoses. A newly identified autoantibody of unknown specificity, anti-p155, is myositis-associated and seen in up to 20 – 30% of juvenile and adult DM patients. HLA DRB1*0301 and its linked allele DQA1*0501 have been identified as the major immunogenetic risk factor for juvenile and adult DM in both European- and African- American patients, and DQA1*0301 is an additional risk factor in European American patients. Several DQA1 alleles also are protective for juvenile DM. Environmental risk factors are poorly understood, but growing evidence suggests a role for infectious agents and ultraviolet radiation. The current therapy of juvenile DM consists of corticosteroids and other immunosuppressive agents, with the adjunctive treatment of cutaneous manifestations and rehabilitation. Therapeutic trials of biologic agents, including anti-TNFα and anti-CD20, may aid in developing promising new therapies for these disorders. PMID:17317616

  12. Juvenile Correctional Institutions Library Services: A Bibliography.

    Science.gov (United States)

    McAlister, Annette M.

    This bibliography lists citations for 14 articles, books, and reports concerned with library services in juvenile correctional institutions. A second section lists 21 additional materials on adult correctional libraries which also contain information relevant to the juvenile library. (KP)

  13. Persistently active, pacemaker-like neurons in neocortex

    Directory of Open Access Journals (Sweden)

    Morgane Le Bon-Jego

    2007-10-01

    Full Text Available The neocortex is spontaneously active, however, the origin of this self-generated, patterned activity remains unknown. To detect potential pacemaker cells, we use calcium imaging to directly identify neurons that discharge action potentials in the absence of synaptic transmissionin slices from juvenile mouse visual cortex. We characterize 60 of these neurons electrophysiologically and morphologically, finding that they belong to two classes of cells: one class composed of pyramidal neurons with a thin apical dendritic tree and a second class composed of ascending axon interneurons (Martinotti cells located in layer 5. In both types of neurons, persistent sodium currents are necessary for the generation of the spontaneous activity. Our data demonstrate that subtypes of neocortical neurons have intrinsic mechanisms to generate persistent activity. Like in central pattern generators (CPGs, these neurons may act as pacemakers to initiate or pattern spontaneous activity in the neocortex.

  14. Juvenile technologies in foreign publications

    Directory of Open Access Journals (Sweden)

    Shpagina E.M.

    2012-09-01

    Full Text Available The article provides the review of foreign publications, concerning the juvenile technologies used in France, Canada, Germany and Switzerland. The paper presents legal, social and psychotherapeutic aspects of juvenile judiciary in foreign countries. The authors paid special attention to the complexity of approaches to young children and teenagers who found themselves in complicated life circumstances or got into trouble with the law. The article gives examples of using the following techniques: cognitive-behavioral intervention, mediation, family therapy (including family background and family history, relations theory, narrative practices, utilization of «emotional intelligence» resources.

  15. Evolution of Juvenile Ankylosing Spondylitis

    Directory of Open Access Journals (Sweden)

    Ye.V. Prohorov

    2013-03-01

    Full Text Available Evolution of juvenile ankylosing spondylitis tend to follow a more frequent involvement in the pathological process of elbow and ankle joints, development of enthesiopathies, changes of intraarticular meniscal horns, forming of Baker’s cysts, cartilage flaps and systemic osteoporosis, and total value of all these signs 13 times exceeds thereof in patients with with the debut of disease in adulthood, but for juvenile ankylosing spondylitis vertebral lesion is less common. Age dimorphism of the use of certain groups of drugs and physiotherapy facilities is observed.

  16. On the Prevention of Juvenile Crime

    Science.gov (United States)

    Lelekov, V. A.; Kosheleva, E. V.

    2008-01-01

    Crimes committed by juveniles are among the most urgent social problems. Juvenile crime is as prevalent as crime itself is, and it has not been solved completely in any society and cannot be solved through law enforcement measures alone. In this article, the authors discuss the dynamics and structure of juvenile crime in Russia and present data…

  17. School-Related Characteristics of Male Juveniles.

    Science.gov (United States)

    Sapp, Gary L.; Abbott, Gypsy A.

    School-related characteristics of 256 male juveniles under the jurisdiction of a Family Court system were examined by perusing court records and conducting individual interviews with the juveniles. Results indicated that most juveniles last attended eighth grade, more than 81% had failed at least once, and more than half had fought frequently at…

  18. Intensive Reading Instruction in Juvenile Correctional Settings

    Science.gov (United States)

    Williams, Jacob L.; Wexler, Jade; Roberts, Greg; Carpenter, Clint

    2011-01-01

    Despite 60 years of evidence linking juvenile illiteracy and delinquency, practitioners and policymakers have been painfully slow in the implementation of evidence-based reading interventions for incarcerated juveniles. We will present the Texas Juvenile Justice Tiered Instructional Model, an evidence-based reading program model created…

  19. Sex Differences in Attributions of Juvenile Delinquency.

    Science.gov (United States)

    Sagatun, Inger J.

    This paper is an application of attribution theory to the processing of juvenile delinquents in an attempt to understand the differential treatment of female and male offenders within the juvenile justice system. The paper explores the attributions of juvenile delinquency both by male and female minors, by male and female parents, and by male and…

  20. Do Juveniles Bully More than Young Offenders?

    Science.gov (United States)

    Ireland, Jane L.

    2002-01-01

    Study compares bullying behavior among juvenile and young offenders. Ninety-five male juvenile and 196 male young offenders completed two questionnaires, measuring bullying directly and behaviors indicative of "being bullied" or of "bullying others". Juveniles perceived a higher extent of bullying and reported significantly…

  1. The Juvenile Court: Changes and Challenges.

    Science.gov (United States)

    Feld, Barry C.

    2000-01-01

    Explores the changes in the juvenile court system, in particular, the juvenile waiver and sentencing laws, as it transformed from a social welfare agency into a type of criminal court system for young offenders. Addresses whether states should create an integrated juvenile and criminal justice system. (CMK)

  2. Reforming Our Expectations about Juvenile Justice

    Science.gov (United States)

    Rodriguez, Pamela F.; Baille, Daphne M.

    2010-01-01

    Typing the term "juvenile justice reform" into a Google[TM] search will result in 60 pages of entries. But what is meant by juvenile justice reform? What does it look like? How will one know when it is achieved? This article defines juvenile justice reform, discusses the principles of effective reform, and describes the practice of juvenile…

  3. Mobilizing Communities To Prevent Juvenile Crime. Juvenile Justice Bulletin.

    Science.gov (United States)

    Bownes, Donna; Ingersoll, Sarah

    Through Title V Incentive Grants for Local Delinquency Prevention Programs (Community Prevention Grants), the Office of Juvenile Justice and Delinquency Prevention (OJJDP) allocated $20 million in fiscal year 1997 to states to complement law enforcement and justice system efforts by helping local communities foster strong families and nurture…

  4. [Mirror neurons].

    Science.gov (United States)

    Rubia Vila, Francisco José

    2011-01-01

    Mirror neurons were recently discovered in frontal brain areas of the monkey. They are activated when the animal makes a specific movement, but also when the animal observes the same movement in another animal. Some of them also respond to the emotional expression of other animals of the same species. These mirror neurons have also been found in humans. They respond to or "reflect" actions of other individuals in the brain and are thought to represent the basis for imitation and empathy and hence the neurobiological substrate for "theory of mind", the potential origin of language and the so-called moral instinct.

  5. Juvenile Justice and Substance Use

    Science.gov (United States)

    Chassin, Laurie

    2008-01-01

    Laurie Chassin focuses on the elevated prevalence of substance use disorders among young offenders in the juvenile justice system and on efforts by the justice system to provide treatment for these disorders. She emphasizes the importance of diagnosing and treating these disorders, which are linked both with continued offending and with a broad…

  6. Genetics in juvenile idiopathic arthritis

    NARCIS (Netherlands)

    Albers, Heleen Marion

    2015-01-01

    Juvenile idiopathic arthritis (JIA) is a non-common disease in children that can persist into adulthood. JIA is considered to be an auto-immune disease. Genetic factors play a role in the pathogenesis. In a new cohort of JIA patients from North-West European descent genetic candidate gene associatio

  7. Juvenile Courts. Creation and development

    Directory of Open Access Journals (Sweden)

    Montserrat GONZÁLEZ FERNÁNDEZ

    2013-11-01

    Full Text Available This paper studies the creation of Juvenile or Children's Courts in Spain, analysing their reasons and aims, as well as the ethical and political connotations present on their way of acting. Their history and the one of the institutions that complement them is built from the legislation, writings and ideas of their promoters.

  8. Juvenile Diabetes and Rehabilitation Counseling.

    Science.gov (United States)

    Stone, J. Blair; Gregg, Charles H.

    1981-01-01

    Severe complications of diabetes are more likely to occur with the juvenile diabetic and problems of psychosocial adjustment are recurring and difficult. Implications for the rehabilitation counselor are discussed in terms of employment considerations, the effects of complications, genetic counseling, and cooperation with other professionals.…

  9. Case Report: Juvenile Tophaceous Gout

    Directory of Open Access Journals (Sweden)

    Seyma Gunes

    2016-01-01

    Full Text Available Gout is a metabolic disease that manifests as recurrent arthritis. Its incidance increases with age. Clinical findings include recurrent acute arthritis, tophus at joints and tissues, uricacid stones and gouty nephropathy. Tophi is a late period complication of arthritis. In this casereport we presented  a patient with early-onset juvenile tophaceous gout.

  10. Do juvenile Amphiprion ocellaris (Pisces

    DEFF Research Database (Denmark)

    Brolund, Thea Marie; Nielsen, Lis Engdahl; Arvedlund, Michael

    2003-01-01

    . This is contrary to the settling mechanisms of the damselfish D. aruanus and D. reticulatus, and of the temperate herring Clupea harengus. Hence the results emphasize the variation of sensory abilities and behaviours in fish larvae and juveniles. It is not an area prone for generalizations....

  11. [Sex-linked juvenile retinoschisis].

    Science.gov (United States)

    François, P; Turut, P; Soltysik, C; Hache, J C

    1976-02-01

    About 13 observations of sexe linked juvenile retinoschisis, the authors describe the ophthalmoscopic, fluorographic and functional aspects of the disease whose caracteristics are:--its sexe linked recessive heredity; --its clinical characterestics associating: a microcystic macular degeneration, peripheral retinal lesions, vitreous body alterations, --an electroretinogram of the negative type.

  12. 依达拉奉对惊厥持续状态幼年大鼠海马IL-1β、NF-κB表达及细胞凋亡的影响%Effects of edaravone on the expression of interleukin-1β,nuclear factor-κB and neuron apoptosis in juvenile rat hippocampus after status convulsion

    Institute of Scientific and Technical Information of China (English)

    王海萍; 邓小龙; 李光乾

    2009-01-01

    Objective To investigate the effect of edaravone on expression of interleukin-1β (IL-1β), nuclear factor-κB (NF-κB) and neuron apoptosis in the juvenile rat hippocampus after status convulsion (SC). Methods One hundred and ninty-five juvenile male Sprague-Dawley (SD) rats were randomly divided into normal saline (NS) control group, status convulsive group and edaravone treatment group. Each group was further divided into five subgroups for different time points. The rats in status convulsive group were kindled into epilepsy by lithium-pilocarpine chemical method. Expressions of IL-1β and NF-κB proteins were detected with immunohistochemistry methods. Expression of NF-κB mRNA was detected with reverse transcription-polymerase chain reaction (RT-PCR). The neuron apoptosis was observed by TdT-mediated dUTP nick end labeling(TUNEL). Results (1)Measured by immunohistochemistry the value of IOD of IL-1β(30.83±3.81,41.00±5.61, 36.32±6.78 and 28.48±4.61, respectively, 12-72 h points) and NF-κB (67.60±5.81,74.61±7.94, 82.43±10.67, 70.70±5.85 and 68.22±9.67, respectively, 4-72 h points) positive cells in the SC group increased, there was significant difference compared with NS group (IL-1β: 11.74±2.32, 12.93±2.49, 13.02±2.83 and 12.98±5.29, respectively, 12-72 h points. NF-κB: 48.67±16.14, 44.62±7.82, 53.16±14.45, 54.27±5.25 and 55.56±7.56, respectively, 4-72 h points) (P<0.01, or P<0.05). By ED intervention in IL-1β (22.01±4.45, 28.28±4.50 and 26.00±5.34, respectively, 12-48 h points) and NF-κB (58.56±6.37, 59.86±6.73, 70.00±10.09, 64.78±7.56 and 64.45±6.51, respectively, 4-72 h points) positive cells value of the IOD decreased as compared with SC group(P<0.01, or P<0.05). (2) Measured by RT-PCR, the expression of NF-κB mRNA and protein trend was similar. (3) The TUNEL positive cells in hippocampns, CA1 of SC group (11.41±2.37) were more than that of NS group 12 h after the SC (P<0.01), reached its highest level at 48 h (28.78±5

  13. Juvenile Crime, Juvenile Justice. Panel on Juvenile Crime: Prevention, Treatment, and Control.

    Science.gov (United States)

    McCord, Joan, Ed.; Widom, Cathy Spatz, Ed.; Crowell, Nancy A., Ed.

    This book discusses patterns and trends in crimes committed by children and adolescents, analyzing youth crime as a subset of general crime and studying the impact of race and gender. It evaluates different approaches to forecasting future crime rates. Data come from a national panel that examined what is known about juvenile crime and its…

  14. A Practical Approach to Juvenile Dermatomyositis and Juvenile Scleroderma.

    Science.gov (United States)

    McCann, Liza J; Pain, Clare E

    2016-02-01

    Juvenile dermatomyositis and juvenile scleroderma are rare multisystem autoimmune disorders. Although they share some pathognomonic hallmarks with adult onset myositis or scleroderma, there are significant differences in presentation, characteristics and associated features when the diseases present in childhood. In view of this, and the rarity of the conditions, it is important for care to be led by teams with expertise in pediatric rheumatology conditions. Prognosis has improved significantly in the West; likely due to early diagnosis and aggressive treatment with immunosuppressive medications. However, this trend is not replicated in the developing world. Early recognition of these diseases is crucial to achieve rapid and sustained remission and prevent disease or medication associated complications. This article aims to provide a practical overview for recognition, diagnosis and treatment of these conditions.

  15. Motor Neurons

    DEFF Research Database (Denmark)

    Hounsgaard, Jorn

    2017-01-01

    Motor neurons translate synaptic input from widely distributed premotor networks into patterns of action potentials that orchestrate motor unit force and motor behavior. Intercalated between the CNS and muscles, motor neurons add to and adjust the final motor command. The identity and functional...... properties of this facility in the path from synaptic sites to the motor axon is reviewed with emphasis on voltage sensitive ion channels and regulatory metabotropic transmitter pathways. The catalog of the intrinsic response properties, their underlying mechanisms, and regulation obtained from motoneurons...... in in vitro preparations is far from complete. Nevertheless, a foundation has been provided for pursuing functional significance of intrinsic response properties in motoneurons in vivo during motor behavior at levels from molecules to systems....

  16. Gemfibrozil and fenofibrate, Food and Drug Administration-approved lipid-lowering drugs, up-regulate tripeptidyl-peptidase 1 in brain cells via peroxisome proliferator-activated receptor α: implications for late infantile Batten disease therapy.

    Science.gov (United States)

    Ghosh, Arunava; Corbett, Grant T; Gonzalez, Frank J; Pahan, Kalipada

    2012-11-09

    The classical late infantile neuronal ceroid lipofuscinosis (LINCLs) is an autosomal recessive disease, where the defective gene is Cln2, encoding tripeptidyl-peptidase I (TPP1). At the molecular level, LINCL is caused by accumulation of autofluorescent storage materials in neurons and other cell types. Currently, there is no established treatment for this fatal disease. This study reveals a novel use of gemfibrozil and fenofibrate, Food and Drug Administration-approved lipid-lowering drugs, in up-regulating TPP1 in brain cells. Both gemfibrozil and fenofibrate up-regulated mRNA, protein, and enzymatic activity of TPP1 in primary mouse neurons and astrocytes as well as human astrocytes and neuronal cells. Because gemfibrozil and fenofibrate are known to activate peroxisome proliferator-activated receptor-α (PPARα), the role of PPARα in gemfibrozil- and fenofibrate-mediated up-regulation of TPP1 was investigated revealing that both drugs up-regulated TPP1 mRNA, protein, and enzymatic activity both in vitro and in vivo in wild type (WT) and PPARβ(-/-), but not PPARα(-/-), mice. In an attempt to delineate the mechanism of TPP1 up-regulation, it was found that the effects of the fibrate drugs were abrogated in the absence of retinoid X receptor-α (RXRα), a molecule known to form a heterodimer with PPARα. Accordingly, all-trans-retinoic acid, alone or together with gemfibrozil, up-regulated TPP1. Co-immunoprecipitation and ChIP studies revealed the formation of a PPARα/RXRα heterodimer and binding of the heterodimer to an RXR-binding site on the Cln2 promoter. Together, this study demonstrates a unique mechanism for the up-regulation of TPP1 by fibrate drugs via PPARα/RXRα pathway.

  17. Regulation of GABA Equilibrium Potential by mGluRs in Rat Hippocampal CA1 Neurons.

    Science.gov (United States)

    Yang, Bo; Rajput, Padmesh S; Kumar, Ujendra; Sastry, Bhagavatula R

    2015-01-01

    The equilibrium potential for GABA-A receptor mediated currents (EGABA) in neonatal central neurons is set at a relatively depolarized level, which is suggested to be caused by a low expression of K+/Cl- co-transporter (KCC2) but a relatively high expression of Na+-K+-Cl- cotransporter (NKCC1). Theta-burst stimulation (TBS) in stratum radiatum induces a negative shift in EGABA in juvenile hippocampal CA1 pyramidal neurons. In the current study, the effects of TBS on EGABA in neonatal and juvenile hippocampal CA1 neurons and the underlying mechanisms were examined. Metabotropic glutamate receptors (mGluRs) are suggested to modulate KCC2 and NKCC1 levels in cortical neurons. Therefore, the involvement of mGluRs in the regulation of KCC2 or NKCC1 activity, and thus EGABA, following TBS was also investigated. Whole-cell patch recordings were made from Wistar rat hippocampal CA1 pyramidal neurons, in a slice preparation. In neonates, TBS induces a positive shift in EGABA, which was prevented by NKCC1 antisense but not NKCC1 sense mRNA. (RS)-a-Methyl-4-carboxyphenylglycine (MCPG), a group I and II mGluR antagonist, blocked TBS-induced shifts in both juvenile and neonatal hippocampal neurons. While blockade of mGluR1 or mGluR5 alone could interfere with TBS-induced shifts in EGABA in neonates, only a combined blockade could do the same in juveniles. These results indicate that TBS induces a negative shift in EGABA in juvenile hippocampal neurons but a positive shift in neonatal hippocampal neurons via corresponding changes in KCC2 and NKCC1 expressions, respectively. mGluR activation seems to be necessary for both shifts to occur while the specific receptor subtype involved seems to vary.

  18. Regulation of GABA Equilibrium Potential by mGluRs in Rat Hippocampal CA1 Neurons.

    Directory of Open Access Journals (Sweden)

    Bo Yang

    Full Text Available The equilibrium potential for GABA-A receptor mediated currents (EGABA in neonatal central neurons is set at a relatively depolarized level, which is suggested to be caused by a low expression of K+/Cl- co-transporter (KCC2 but a relatively high expression of Na+-K+-Cl- cotransporter (NKCC1. Theta-burst stimulation (TBS in stratum radiatum induces a negative shift in EGABA in juvenile hippocampal CA1 pyramidal neurons. In the current study, the effects of TBS on EGABA in neonatal and juvenile hippocampal CA1 neurons and the underlying mechanisms were examined. Metabotropic glutamate receptors (mGluRs are suggested to modulate KCC2 and NKCC1 levels in cortical neurons. Therefore, the involvement of mGluRs in the regulation of KCC2 or NKCC1 activity, and thus EGABA, following TBS was also investigated. Whole-cell patch recordings were made from Wistar rat hippocampal CA1 pyramidal neurons, in a slice preparation. In neonates, TBS induces a positive shift in EGABA, which was prevented by NKCC1 antisense but not NKCC1 sense mRNA. (RS-a-Methyl-4-carboxyphenylglycine (MCPG, a group I and II mGluR antagonist, blocked TBS-induced shifts in both juvenile and neonatal hippocampal neurons. While blockade of mGluR1 or mGluR5 alone could interfere with TBS-induced shifts in EGABA in neonates, only a combined blockade could do the same in juveniles. These results indicate that TBS induces a negative shift in EGABA in juvenile hippocampal neurons but a positive shift in neonatal hippocampal neurons via corresponding changes in KCC2 and NKCC1 expressions, respectively. mGluR activation seems to be necessary for both shifts to occur while the specific receptor subtype involved seems to vary.

  19. 8 CFR 236.3 - Detention and release of juveniles.

    Science.gov (United States)

    2010-01-01

    ... 8 Aliens and Nationality 1 2010-01-01 2010-01-01 false Detention and release of juveniles. 236.3... Aliens Prior to Order of Removal § 236.3 Detention and release of juveniles. (a) Juveniles. A juvenile is defined as an alien under the age of 18 years. (b) Release. Juveniles for whom bond has been posted,...

  20. Uveitis in juvenile chronic arthritis.

    Science.gov (United States)

    Kanski, J J

    1990-01-01

    About 20% of patients with juvenile chronic arthritis develop uveitis which is frequently bilateral. Risk factors for uveitis are: female gender, pauciarticular onset of arthritis, presence of circulating antinuclear antibodies, and the antigens HLA-DW5 and HLA-DPw2. The visual prognosis in patients with uveitis is good in 25% and fair in 50%. The remaining 25% develop cataract and/or glaucoma. The management of glaucoma is unsatisfactory, but the results of cataract surgery by lensectomy are good.

  1. Methylphenidate and the juvenile brain: enhancement of attention at the expense of cortical plasticity?

    Science.gov (United States)

    Urban, Kimberly R; Gao, Wen-Jun

    2013-12-01

    Methylphenidate (Ritalin) is the most commonly prescribed psychoactive drug for juveniles and adolescents. Used to treat attention-deficit/hyperactivity disorder (ADHD) and for cognitive enhancement in healthy individuals, it has been regarded as a relatively safe medication for the past several decades. However, a thorough review of the literature reveals that the age-dependent activities of the drug, as well as potential developmental effects, are largely ignored. In addition, the diagnosis of ADHD is subjective, leaving open the possibility of misdiagnosis and excessive prescription of the drug. Recent studies have suggested that early life exposure of healthy rodent models to methylphenidate resulted in altered sleep/wake cycle, heightened stress reactivity, and, in fact, a dosage previously thought of as therapeutic depressed neuronal function in juvenile rats. Furthermore, juvenile rats exposed to low-dose methylphenidate displayed alterations in neural markers of plasticity, indicating that the drug might alter the basic properties of prefrontal cortical circuits. In this review of the current literature, we propose that juvenile exposure to methylphenidate may cause abnormal prefrontal function and impaired plasticity in the healthy brain, strengthening the case for developing a more thorough understanding of methylphenidate's actions on the developing, juvenile brain, as well as better diagnostic measures for ADHD.

  2. Juvenile morphology in baleen whale phylogeny.

    Science.gov (United States)

    Tsai, Cheng-Hsiu; Fordyce, R Ewan

    2014-09-01

    Phylogenetic reconstructions are sensitive to the influence of ontogeny on morphology. Here, we use foetal/neonatal specimens of known species of living baleen whales (Cetacea: Mysticeti) to show how juvenile morphology of extant species affects phylogenetic placement of the species. In one clade (sei whale, Balaenopteridae), the juvenile is distant from the usual phylogenetic position of adults, but in the other clade (pygmy right whale, Cetotheriidae), the juvenile is close to the adult. Different heterochronic processes at work in the studied species have different influences on juvenile morphology and on phylogenetic placement. This study helps to understand the relationship between evolutionary processes and phylogenetic patterns in baleen whale evolution and, more in general, between phylogeny and ontogeny; likewise, this study provides a proxy how to interpret the phylogeny when fossils that are immature individuals are included. Juvenile individuals in the peramorphic acceleration clades would produce misleading phylogenies, whereas juvenile individuals in the paedomorphic neoteny clades should still provide reliable phylogenetic signals.

  3. Juvenile morphology in baleen whale phylogeny

    Science.gov (United States)

    Tsai, Cheng-Hsiu; Fordyce, R. Ewan

    2014-09-01

    Phylogenetic reconstructions are sensitive to the influence of ontogeny on morphology. Here, we use foetal/neonatal specimens of known species of living baleen whales (Cetacea: Mysticeti) to show how juvenile morphology of extant species affects phylogenetic placement of the species. In one clade (sei whale, Balaenopteridae), the juvenile is distant from the usual phylogenetic position of adults, but in the other clade (pygmy right whale, Cetotheriidae), the juvenile is close to the adult. Different heterochronic processes at work in the studied species have different influences on juvenile morphology and on phylogenetic placement. This study helps to understand the relationship between evolutionary processes and phylogenetic patterns in baleen whale evolution and, more in general, between phylogeny and ontogeny; likewise, this study provides a proxy how to interpret the phylogeny when fossils that are immature individuals are included. Juvenile individuals in the peramorphic acceleration clades would produce misleading phylogenies, whereas juvenile individuals in the paedomorphic neoteny clades should still provide reliable phylogenetic signals.

  4. Juvenile psammomatoid ossifying fibroma. Case report

    OpenAIRE

    Vahtsevanos, Konstantinos; Persephone XIROU; Giorgos BALLIS; Tsekos, Antonis; Ntomouchtsis, Aris; Alexandros VALASIDIS; Doxa MAGGOUDI

    2012-01-01

    Ossifying fibroma (OS) represents a slow growing, benign neoplasm that belongs to the greater group of fibro-osseous lesions. Based on its histological features, ossifying fibroma is divided into: a) juvenile trabecular OS and b) juvenile psammomatoid OS which affects mainly the paranasal sinuses of children and teenagers aging from 5 to 15 years.A rare case of juvenile psammomatoid ossifying fibroma in a 30 year old male patient located in the left mandibular ramus is presented. Treatment pl...

  5. Distinct synovial immunopathologic characteristics of juvenile-onset spondylarthritis and other forms of juvenile idiopathic arthritis

    NARCIS (Netherlands)

    E. Kruithof; V. van den Bossche; L. de Rycke; B. Vandooren; R. Joos; J.D. Canete; P.P. Tak; A.M.H. Boots; E.M. Veys; D. Baeten

    2006-01-01

    Objective. To characterize the synovial immunopathologic features of juvenile-onset spondylarthritis (SpA) in relation to adult SpA and other forms of juvenile idiopathic arthritis (JIA). Methods. Synovial biopsy samples were obtained from 10 patients with juvenile-onset SpA, 23 with adult SpA, 19 w

  6. Justicia juvenil restaurativa como respuesta alternativa

    OpenAIRE

    Mariño Rojas, Cielo

    2016-01-01

    El artículo explora las posibilidades de la justicia juvenil restaurativa como respuesta alternativa en los sistemas de justicia juvenil en la región. Si bien la justicia restaurativa no aparece explícitamente en los instrumentos internacionales sobre justicia penal juvenil, estos dan la oportunidad para que aquella se desarrolle dentro de los sistemas de justicia juvenil. Inicialmente se aborda su evolución histórica para establecer el origen de sus principales características. A continuació...

  7. Rabconnectin-3α is required for the morphological maturation of GnRH neurons and kisspeptin responsiveness

    OpenAIRE

    Tata, Brooke K.; Carole Harbulot; Zsolt Csaba; Stéphane Peineau; Sandrine Jacquier; Nicolas Roux

    2017-01-01

    A few hundred hypothalamic neurons form a complex network that controls reproduction in mammals by secreting gonadotropin-releasing hormone (GnRH). Timely postnatal changes in GnRH secretion are essential for pubertal onset. During the juvenile period, GnRH neurons undergo morphological remodeling, concomitantly achieving an increased responsiveness to kisspeptin, the main secretagogue of GnRH. However, the link between GnRH neuron activity and their morphology remains unknown. Here, we show ...

  8. High Threshold, Proximal Initiation, and Slow Conduction Velocity of Action Potentials in Dentate Granule Neuron Mossy Fibers

    OpenAIRE

    Kress, Geraldine J.; Dowling, Margaret J.; Meeks, Julian P.; Mennerick, Steven

    2008-01-01

    Dentate granule neurons give rise to some of the smallest unmyelinated fibers in the mammalian CNS, the hippocampal mossy fibers. These neurons are also key regulators of physiological and pathophysiological information flow through the hippocampus. We took a comparative approach to studying mossy fiber action potential initiation and propagation in hippocampal slices from juvenile rats. Dentate granule neurons exhibited axonal action potential initiation significantly more proximal than CA3 ...

  9. Juvenile hyaline fibromatosis. Radiological diagnosis. Fibromatosis hialina juvenil. Diagnostico radiologico

    Energy Technology Data Exchange (ETDEWEB)

    Fuentes, R.; Sar, V.; Cabrera, J.J.; Diaz, L.; Hernandez, B.; Valeron, P.; Baez, O.; Rodriguez, M.

    1993-10-01

    Juvenile hyaline fibromatosis (JHF) is a rare disorder of unknown etiology, very few cases of which have been reported in the literature. It presents similarities to other fibromatosys, but has its particular radiological features which differentiate it from them. The clinical findings consist of several, slow growing, subcutaneous nodules, flexion contractures of the joints which can lead to disability, gingival hypertrophy and muscular atrophy. The suspected radiological diagnosis is confirmed by electron microscopy study of the nodules, although light microscopy can also reveal suggestive images. Author (9 refs.)

  10. Juvenile ossifying fibroma: Psammamatoid variant

    Directory of Open Access Journals (Sweden)

    Shivani Aggarwal

    2012-01-01

    Full Text Available Juvenile ossifying fibroma is a rare fibro-osseous lesion containing variable amount of calcified masses, which resembles bone or cementum within a fibrocellular connective tissue stroma. It has variable clinical behavior, highly aggressive in nature including invasion and destruction of adjacent anatomic structures with a strong tendency to recur. We reported a 28-year-old female patient with a growth in the upper left vestibule region extending from canine to molar region with clinical, histopathological, and radiological features are presented. Surgical management was done, and regular follow-up was advised.

  11. [Juvenile monomelic amyotrophy: Hirayama disease].

    Science.gov (United States)

    Drozdowski, W; Baniukiewicz, E; Lewonowska, M

    1998-01-01

    We present three patients with unilateral upper limb weakness (with muscular atrophy)-two of them with distal and one with proximal localization. The disease onset was between 18th end 35-th year of life; the disease course was biphasic (i.e. progressive within first 1 to 3 years, and stabilized during following 4-24 years). The laboratory investigations permitted to diagnose juvenile monomelic amyotrophy, an entity that is very rare outside Japan. Electromyography revealed neurogenic involvement with spinal features also in clinically unaffected muscles. We suggest that these results may support the hypothesis of this disease being a benign variant of spinal muscular atrophy.

  12. Juvenile Competency to Stand Trial.

    Science.gov (United States)

    Stepanyan, Sofia T; Sidhu, Shawn S; Bath, Eraka

    2016-01-01

    Competency to stand trial is interpreted as a protected due process right for all defendants and is defined as a defendant's fundamental knowledge and understanding of the criminal charges being filed, roles and procedures within the courtroom, and a general ability to work with the defense counsel. Questions of competency are most often raised by the judge, defense, or the prosecution, and competency evaluations are most often completed by psychiatrists or psychologists with forensic training or work experience. Mental illness, intellectual disability, developmental disorders, and developmental immaturity are the 4 main factors considered in most juvenile competency evaluations.

  13. Glucocorticoids in juvenile idiopathic arthritis.

    Science.gov (United States)

    Malattia, Clara; Martini, Alberto

    2014-05-01

    Although the use of corticosteroids in juvenile idiopathic arthritis (JIA) is now much more limited owing to the availability of methotrexate and biological agents, there are clinical scenarios where it is still indicated. For example, corticosteroids may be indicated for intraarticular injections to prevent joint deformities, as a "bridge" drug to relieve symptoms in polyarticular disease while waiting for methotrexate and biologics to exert their full therapeutic effects, and in the treatment of chronic iridocyclitis, macrophage activation syndrome, and systemic JIA, although the advent of interleukin (IL)-1 and IL-6 blockers has greatly reduced the latter indication.

  14. Imaging of juvenile idiopathic arthritis

    Energy Technology Data Exchange (ETDEWEB)

    Johnson, Karl [Birmingham Children' s Hospital, Radiology Department, Birmingham (United Kingdom)

    2006-08-15

    Over the past decade there have been considerable changes in the classification and imaging of juvenile idiopathic arthritis (JIA). Radiology now has a considerable role in the management of JIA, the differential diagnosis, monitoring disease progression and detecting complications. The different imaging modalities available, their role and limitations are discussed in this article and the various disease features that the radiologist should be aware of are described. An approach to the imaging of the child with joint disease and in the monitoring of disease complications are also discussed. (orig.)

  15. THE STUDY OF FEATURES OF GUILT OF JUVENILE OFFENDERS IN THE CONTEXT OF JUVENILE JUSTICE

    Directory of Open Access Journals (Sweden)

    Natalija Vladimirovna Galkina

    2015-08-01

    Full Text Available The article is devoted to the results of empirical studies of the experiences of guilt of juvenile offenders in the context of juvenile justice where a minor appears as the subject of legal relations. Restorative approach of juvenile justice is based on an admission of guilt to the victim. In connection with it, the research of features of the guilt of minors who have committed an offence and the conditions for the development of the subjectivity will enhance understanding of the possibilities of restorative juvenile justice system in the prevention of juvenile delinquency.Thus, the results of empirical research presented in the article are important for determining of the psychological bases of realization of rehabilitation programs in the context of juvenile justice. In particular, the results are important for the organization and conduct of psychological work to overcome the psychological barriers in the behavior of juveniles having inherently maladaptive guilt and destructive psychological defense mechanisms.

  16. Changes in Juvenile Justice in China.

    Science.gov (United States)

    Wong, Dennis S. W.

    2001-01-01

    Discusses rising juvenile and youth crime in China, highlighting the essence of Chinese Marxist criminological thought and changing conceptions of delinquency from the postrevolutionary period to the present; examining official responses to delinquency and the recent development of juvenile justice; and suggesting that current delinquency control…

  17. Juvenile Anorexia Nervosa: Family Therapy's Natural Niche

    Science.gov (United States)

    Fishman, H. Charles

    2006-01-01

    Juvenile Anorexia Nervosa (AN) is a severe problem both in terms of presenting symptomatology and its tendency toward chronicity. Researchers have consistently shown that family-based approaches are superior to individual approaches for the treatment of juvenile AN. This article addresses the capacity deficit of trained family therapists to treat…

  18. Sexually dimorphic body plumage in juvenile crossbills

    NARCIS (Netherlands)

    Edelaar, P; Phillips, RE; Knops, P

    2005-01-01

    Sexual dimorphism in color and pattern of contour feathers is rare in juvenile songbirds. We describe how captive-bred juvenile males of Scottish Crossbill (Loxia scotica) and nominate Red Crossbill (L. curvirostra curvirostra) can be differentiated from females prior to prebasic molt by an unstreak

  19. Juveniles' Motivations for Remaining in Prostitution

    Science.gov (United States)

    Hwang, Shu-Ling; Bedford, Olwen

    2004-01-01

    Qualitative data from in-depth interviews were collected in 1990-1991, 1992, and 2000 with 49 prostituted juveniles remanded to two rehabilitation centers in Taiwan. These data are analyzed to explore Taiwanese prostituted juveniles' feelings about themselves and their work, their motivations for remaining in prostitution, and their difficulties…

  20. Alternative sanctions for juveniles in the Netherlands

    NARCIS (Netherlands)

    Laan, P.H. van der

    1993-01-01

    In the Netherlands alternative sanctions for juveniles have become very popular. In less than ten years, the alternative sanction has surpassed the fine as the most frequently imposed penal sanction for juveniles. As a result of this popularity, some net widening has occured. In general, alternativl

  1. Psychiatric Disorder in a Juvenile Assessment Center

    Science.gov (United States)

    McReynolds, Larkin S.; Wasserman, Gail A.; DeComo, Robert E.; John, Reni; Keating, Joseph M.; Nolen, Scott

    2008-01-01

    Juvenile assessment centers (JACs) were developed to address service fragmentation and promote the sharing of information among agencies providing services to youth involved with the juvenile justice system. To date, there are no reports that describe the diagnostic profiles of the youth served by such centers. The authors hypothesize that the…

  2. Moral Development of Solo Juvenile Sex Offenders

    Science.gov (United States)

    Van Vugt, Eveline; Stams, Geert Jan; Dekovic, Maja; Brugman, Daan; Rutten, Esther; Hendriks, Jan

    2008-01-01

    This study compared the moral development of solo juvenile male sex offenders (n = 20) and juvenile male non-offenders (n = 76), aged 13-19 years, from lower socioeconomic and educational backgrounds. The Moral Orientation Measure (MOM) was used to assess punishment- and victim-based moral orientation in sexual and non-sexual situations. Moral…

  3. Juveniles' Motivations for Remaining in Prostitution

    Science.gov (United States)

    Hwang, Shu-Ling; Bedford, Olwen

    2004-01-01

    Qualitative data from in-depth interviews were collected in 1990-1991, 1992, and 2000 with 49 prostituted juveniles remanded to two rehabilitation centers in Taiwan. These data are analyzed to explore Taiwanese prostituted juveniles' feelings about themselves and their work, their motivations for remaining in prostitution, and their difficulties…

  4. Ethnic disparities in Dutch juvenile justice

    NARCIS (Netherlands)

    Komen, M.; van Schooten, E.

    2009-01-01

    In the Netherlands, ethnic minority boys are heavily overrepresented in prisons and secure judicial institutions for juveniles. In a sample of 324 juveniles of both native Dutch and ethnic minority origin who have come into contact with the Dutch criminal justice authorities, we compared the number

  5. Group sexual offending by juvenile females

    NARCIS (Netherlands)

    Wijkman, M.; Weerman, F.; Bijleveld, C.; Hendriks, J.

    2015-01-01

    This study examined all group sexual offending cases in the Netherlands between 1995 and 2009 (n = 26) in which at least one juvenile female offender (n = 35) had been adjudicated. Information from court files showed that the majority of juvenile female group sexual offenders have (inter)personal pr

  6. Neuro-Ophthalmological Findings in Children and Adolescents with Chronic Ataxia

    Science.gov (United States)

    Salman, Michael S.; Chodirker, Bernard N.

    2015-01-01

    Abstract Chronic ataxia is a challenging problem in paediatric neurology. It is caused by a multitude of disorders that at least initially have similar or non-specific phenotype. Some of these disorders have associated neuro-ophthalmological signs (N-OS). The aims of this study are to describe the N-OS and their frequencies in general and by disease aetiology in paediatric patients with chronic ataxia. The authors identified 184 patients under age 17 years with chronic ataxia (>2 months duration or recurrent) during 1991–2008 from multiple sources. Diagnoses and N-OS were ascertained following charts review. Mean age (SD) was 15 (7.7) years. Median duration of follow-up was 6.4 years. There were 214 N-OS in 115 patients (median = 2, range = 1–5 N-OS/patient). Strabismus was present in 29.3% of patients, nystagmus 27.7%, impaired smooth pursuit 23.4%, hypometric saccades 10.3%, decreased visual acuity 9.2%, abnormal optic discs 8.7%, abnormal pupillary examination 2.7%, hypermetric saccades 2.2%, impaired ductions 1.6%, and abnormal visual fields in 1.1% of patients. N-OS were reported most commonly among patients with the following disorders (commonest N-OS): hypoxic-ischaemic encephalopathy following birth (strabismus), episodic ataxia (nystagmus), neuronal ceroid lipofuscinosis (abnormal optic discs), neuronal migration disorder (strabismus), ischaemic stroke (nystagmus), Joubert syndrome–related disorders (strabismus), leukodystrophy (nystagmus), Friedreich ataxia (hypometric saccades, impaired smooth pursuit, nystagmus), mitochondrial disease (strabismus, nystagmus), ataxia telangiectasia (impaired smooth pursuit), and Angelman syndrome (strabismus). N-OS occur commonly in children with chronic ataxia. Although non-specific, they vary with disease aetiology, potentially aiding in the assessment of these patients. PMID:27928345

  7. A social work study on juvenile delinquency

    Directory of Open Access Journals (Sweden)

    Mohammad Reza Iravani

    2012-08-01

    Full Text Available We present an empirical study to study the effects of different factors on juvenile delinquency. The investigation distributes 100 questionnaires among people who are involved with crime and analyzes their feedbacks. There are five hypotheses in our survey and we look to see whether family conditions, religion, economical conditions, media and physical and psychological characteristics play important role on juvenile delinquency in Iranian society. The results shows that while family conditions, physical and psychological characteristics play important role on juvenile delinquency, other factors do not statistically have any impact on juvenile delinquency. The study suggests that a better family condition could help reduce juvenile delinquency and people could guide their children through better consultations.

  8. Family transitions and juvenile delinquency.

    Science.gov (United States)

    Schroeder, Ryan D; Osgood, Aurea K; Oghia, Michael J

    2010-01-01

    There is a large body of research that shows children from non-intact homes show higher rates of juvenile delinquency than children from intact homes, partially due to weaker parental control and supervision in non-intact homes. What has not been adequately addressed in the research is the influence of changes in family structure among individual adolescents over time on delinquent offending. Using the first and third waves of the National Youth Study, we assess the effect of family structure changes on changes in delinquent offending between waves through the intermediate process of changes in family time and parental attachment. Although prior research has documented adolescents in broken homes are more delinquent than youth in intact homes, the process of family dissolution is not associated with concurrent increases in offending. In contrast, family formation through marriage or cohabitation is associated with simultaneous increases in offending. Changes in family time and parental attachment account for a portion of the family formation effect on delinquency, and prior parental attachment and juvenile offending significantly condition the effect of family formation on offending.

  9. Atherosclerosis in Juvenile Idiopathic Arthritis

    Directory of Open Access Journals (Sweden)

    Ewa Jednacz

    2012-01-01

    Full Text Available Atherosclerosis is a chronic inflammatory disease of the arteries. Clinical consequences of the atherosclerotic process occur in the adult population, however atherosclerotic process begins in childhood. The classic risk factors for atherosclerosis include obesity, dyslipidaemia, age, gender or family history. In recent years, attention has been drawn to the similarity between atherosclerotic inflammatory processes and inflammatory changes in the course of systemic connective tissue disease, in particular systemic lupus etythematosus (SLE or rheumatoid arthritis (RA. There is also observed the similarity of the pathogenetic background of development of atherosclerosis and juvenile idiopathic arthritis (JIA. Elevated levels of pro-inflammatory cytokines are observed in the course of juvenile idiopathic arthritis. Also homocysteine concentrations, which may play a significant role in the development of atherosclerotic lesions, are observed higher in patients with JIA. Some studies revealed higher carotid intima-media thickness (IMT index values in children with JIA. In view of the fact that atherosclerotic process begins as early as in childhood, the introduction of appropriate preventive measures in children is a matter of utmost importance.

  10. Learning and memory deficits in male adult mice treated with a benzodiazepine sleep-inducing drug during the juvenile period

    Directory of Open Access Journals (Sweden)

    Yusuke Furukawa

    2016-07-01

    Full Text Available Gamma-aminobutyric acid (GABA, the major inhibitory neurotransmitter in the mammalian central nervous system, is also known to be important for brain development. Therefore, disturbances of GABA receptor (GABA-R mediated signaling (GABA-R signal during brain development may influence normal brain maturation and cause late-onset brain malfunctions. In this study, we examined whether the temporal stimulation of the GABA-R signal during brain development induces late-onset adverse effects on the brain in adult male mice. To stimulate the GABA-R signal, we used either the benzodiazepine sleep-inducing drug triazolam (TZ or the non-benzodiazepine drug zolpidem (ZP. We detected deficits in learning and memory in mice treated with TZ during the juvenile period, as seen in the fear conditioning test. On the other hand, ZP administration during the juvenile period had little effect. In addition, decreased protein expression of GluR1 and GluR4, which are excitatory neurotransmitter receptors, was detected in the hippocampi of mice treated with TZ during the juvenile period. We measured mRNA expression of the immediate early genes (IEGs, which are neuronal activity markers, in the hippocampus shortly after the administration of TZ or ZP to juvenile mice. Decreased IEG expression was detected in mice with juvenile TZ administration, but not in mice with juvenile ZP administration. Our findings demonstrate that TZ administration during the juvenile period can induce irreversible brain dysfunction in adult mice. It may need to take an extra care for the prescription of benzodiazepine sleep-inducing drugs to juveniles because it might cause late onset learning and memory defects.

  11. [Neuronal network].

    Science.gov (United States)

    Langmeier, M; Maresová, D

    2005-01-01

    Function of the central nervous system is based on mutual relations among the nerve cells. Description of nerve cells and their processes, including their contacts was enabled by improvement of optical features of the microscope and by the development of impregnation techniques. It is associated with the name of Antoni van Leeuwenhoek (1632-1723), J. Ev. Purkyne (1787-1869), Camillo Golgi (1843-1926), and Ramón y Cajal (1852-1934). Principal units of the neuronal network are the synapses. The term synapse was introduced into neurophysiology by Charles Scott Sherrington (1857-1952). Majority of the interactions between nerve cells is mediated by neurotransmitters acting at the receptors of the postsynaptic membrane or at the autoreceptors of the presynaptic part of the synapse. Attachment of the vesicles to the presynaptic membrane and the release of the neurotransmitter into the synaptic cleft depend on the intracellular calcium concentration and on the presence of several proteins in the presynaptic element.

  12. Profile of Incarcerated Juveniles: Comparison of Male and Female Offenders

    Science.gov (United States)

    Martin, Don; Martin, Magy; Dell, Rex; Davis, Candice; Guerrieri, Karen

    2008-01-01

    Effective methods of identifying potential juvenile offenders are critical when developing prevention programs within both state and national juvenile justice systems. The characteristics of juvenile offenders in a large juvenile justice system are examined in this study. Participants live in a Midwestern city with a high rate of crime as…

  13. 8 CFR 1236.3 - Detention and release of juveniles.

    Science.gov (United States)

    2010-01-01

    ... 8 Aliens and Nationality 1 2010-01-01 2010-01-01 false Detention and release of juveniles. 1236.3... ORDERED REMOVED Detention of Aliens Prior to Order of Removal § 1236.3 Detention and release of juveniles. (a) Juveniles. A juvenile is defined as an alien under the age of 18 years. (b) Release....

  14. Habitat associations of juvenile versus adult butterflyfishes

    Science.gov (United States)

    Pratchett, M. S.; Berumen, M. L.; Marnane, M. J.; Eagle, J. V.; Pratchett, D. J.

    2008-09-01

    Many coral reef fishes exhibit distinct ontogenetic shifts in habitat use while some species settle directly in adult habitats, but there is not any general explanation to account for these differences in settlement strategies among coral reef fishes. This study compared distribution patterns and habitat associations of juvenile (young of the year) butterflyfishes to those of adult conspecifics. Three species, Chaetodon auriga, Chaetodon melannotus, and Chaetodon vagabundus, all of which have limited reliance on coral for food, exhibited marked differences in habitat association of juvenile versus adult individuals. Juveniles of these species were consistently found in shallow-water habitats, whereas adult conspecifics were widely distributed throughout a range of habitats. Juveniles of seven other species ( Chaetodon aureofasciatus, Chaetodon baronessa, Chaetodon citrinellus, Chaetodon lunulatus, Chaetodon plebeius, Chaetodon rainfordi, and Chaetodon trifascialis), all of which feed predominantly on live corals, settled directly into habitat occupied by adult conspecifics. Butterflyfishes with strong reliance on corals appear to be constrained to settle in habitats that provide access to essential prey resources, precluding their use of distinct juvenile habitats. More generalist butterflyfishes, however, appear to utilize distinct juvenile habitats and exhibit marked differences in the distribution of juveniles versus adults.

  15. Juvenile psammomatoid ossifying fibroma. Case report

    Directory of Open Access Journals (Sweden)

    Konstantinos VAHTSEVANOS

    2012-08-01

    Full Text Available Ossifying fibroma (OS represents a slow growing, benign neoplasm that belongs to the greater group of fibro-osseous lesions. Based on its histological features, ossifying fibroma is divided into: a juvenile trabecular OS and b juvenile psammomatoid OS which affects mainly the paranasal sinuses of children and teenagers aging from 5 to 15 years.A rare case of juvenile psammomatoid ossifying fibroma in a 30 year old male patient located in the left mandibular ramus is presented. Treatment plan included radical surgical excision of the lesion and restoration with autologous osteochondral graft from the 6th rib of the ipsilateral side.

  16. Juvenile eye growth, when completed?

    DEFF Research Database (Denmark)

    Fledelius, Hans C; Christensen, Anders S; Fledelius, Christian

    2014-01-01

    PURPOSE: To test Sorsby's classical statement of axial eye growth as completed at the age of 13 years, with a view also to differentiating between basic eye growth and juvenile elongation associated with eventual refractive change towards myopia. METHODS: (i) A total of 160 healthy eyes close...... was preferred for conventional ultrasound oculometry due to its extreme repeatability of measuring values, thus making it well fitted for evaluating very small differences. In particular, this had bearing for the decelerating end phase of growth in the longitudinal investigation. RESULTS: Sorby's statement...... about age 13 as general limit found support from the cross-sectional data, which suggested stable emmetropic eye size from about 11-12 years, with an average apparently outgrown male emmetropic value of 23.5 mm versus females' 22.9 mm. The longitudinal data, however, showed emmetropic growth also beyond...

  17. SUBTYPES OF JUVENILE SYSTEMIC SCLERODERMA

    Directory of Open Access Journals (Sweden)

    M N Slarovoitova

    2001-01-01

    Full Text Available Aim: to allot clinical forms of juvenile systemic scleroderma (JSSD. Material and methods: investigation and dynamic observation of 60 patients aged 14-54 (mean age 25.1 ±7.2 with onset of disease in child's and adolescent’s ages from 1 to 16 years old ( in average 11. 4±3.8 year old and disease duration from 1 to 39 years (in average 13.1 ±7.9. Results: 55% of patients demonstrated JSSD subtype with focal cutaneous lesion of different localization. The possibility of overlap-syndrome development in JSSD patients with onset in adolescent age typical for SSD-rheumatoid arthritis, SSD-polymvositis should be underlined. Conclusion: knowledge of different clinical forms and courses of the disease, modern diagnostics and early beginning of differential JSSD treatment will enable us to improve the prognosis and disease outcome.

  18. Juvenile Huntington disease in Argentina.

    Science.gov (United States)

    Gatto, Emilia Mabel; Parisi, Virginia; Etcheverry, José Luis; Sanguinetti, Ana; Cordi, Lorena; Binelli, Adrian; Persi, Gabriel; Squitieri, Ferdinando

    2016-01-01

    We analyzed demographic, clinical and genetic characteristics of juvenile Huntington disease (JHD) and it frequency in an Argentinean cohort. Age at onset was defined as the age at which behavioral, cognitive, psychiatric or motor abnormalities suggestive of JHD were first reported. Clinical and genetic data were similar to other international series, however, in this context we identified the highest JHD frequency reported so far (19.72%; 14/71). Age at onset of JHD is challenging and still under discussion. Our findings reinforce the hypothesis that clinical manifestations, other than the typical movement disorder, may anticipate age at onset of even many years. Analyses of JHD cohorts are required to explore it frequency in populations with different backgrounds to avoid an underestimation of this rare phenotype. Moreover, data from selected populations may open new pathways in therapeutic approaches and may explain new potential correlations between HD presentations and environmental or biological factors.

  19. [Physiotherapy for juvenile idiopathic arthritis].

    Science.gov (United States)

    Spamer, M; Georgi, M; Häfner, R; Händel, H; König, M; Haas, J-P

    2012-07-01

    Control of disease activity and recovery of function are major issues in the treatment of children and adolescents suffering from juvenile idiopathic arthritis (JIA). Functional therapies including physiotherapy are important components in the multidisciplinary teamwork and each phase of the disease requires different strategies. While in the active phase of the disease pain alleviation is the main focus, the inactive phase requires strategies for improving motility and function. During remission the aim is to regain general fitness by sports activities. These phase adapted strategies must be individually designed and usually require a combination of different measures including physiotherapy, occupational therapy, massage as well as other physical procedures and sport therapy. There are only few controlled studies investigating the effectiveness of physical therapies in JIA and many strategies are derived from long-standing experience. New results from physiology and sport sciences have contributed to the development in recent years. This report summarizes the basics and main strategies of physical therapy in JIA.

  20. Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients

    Science.gov (United States)

    Sarkar, Chinmoy; Zhang, Zhongjian; Mukherjee, Anil B.

    2011-01-01

    Infantile neuronal ceroid lipofuscinosis (INCL), a lethal hereditary neurodegenerative lysosomal storage disorder, affects mostly children. It is caused by inactivating mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene. Nonsense mutations in a gene generate premature termination codons producing truncated, nonfunctional or deleterious proteins. PPT1 nonsense-mutations account for approximately 31% of INCL patients in the US. Currently, there is no effective treatment for this disease. While aminoglycosides such as gentamycin suppress nonsense mutations, inherent toxicity of aminoglycosides prohibits chronic use in patients. PTC124 is a non-toxic compound that induces ribosomal read-through of premature termination codons. We sought to determine whether PTC124-treatment of cultured cells from INCL patients carrying nonsense mutations in the PPT1 gene would correct PPT1 enzyme-deficiency with beneficial effects. Our results showed that PTC124-treatment of cultured cells from INCL patients carrying PPT1 nonsense-mutations induced PPT1 enzymatic activity in a dose- and time-dependent manner. This low level of PPT1 enzyme activity induced by PTC124 is virtually identical to that induced by gentamycin-treatment. Even though only a modest increase in PPT1 activity was achieved by PTC124-treatment of INCL cells, this treatment reduced the levels of thioester (constituent of ceroid) load. Our results suggest that PTC124-treatment induces PPT1 enzymatic activity in cultured cells from INCL patients carrying PPT1 nonsense-mutations, and this modest enzymatic activity has demonstrable beneficial effects on these cells. The clinical relevance of these effects may be tested in animal models of INCL carrying nonsense mutations in the PPT1 gene. PMID:21704547

  1. Juvenile prison: Remarks on the specific characteristics of regular sentencing

    OpenAIRE

    Miladinović-Stefanović, Dušica

    2015-01-01

    The system of the juvenile criminal law in the Republic of Serbia includes different mechanisms of social response to juvenile delinquency, including corrective orders, corrective measures and juvenile prison. This paper deals with the issue of determining a relevant sentence for juvenile offenders in trial proceedings. The legislator has provided a number of guidelines for these proceedings: the specific range of the juvenile prison sentence, the purpose of punishment, the degree of maturity...

  2. Parenting Styles and Family Communication as Correlates of Juvenile Delinquency

    OpenAIRE

    1997-01-01

    The goal of this study was to examine parenting styles and family communication as correlates of juvenile delinquency. A review of the literature was completed in the areas of parenting styles, family communication, and juvenile delinquency. The literature that was reviewed for this study was examined mainly from juvenile perceptions. This study was approached from a general systems theory perspective. A sample of juveniles (N = 78) from Weber County, Utah, involved in the juvenile justice...

  3. Are antipredator behaviours of hatchery Salmo salar juveniles similar to wild juveniles?

    Science.gov (United States)

    Salvanes, A G V

    2017-01-27

    This study explores how antipredator behaviour of juvenile Atlantic salmon Salmo salar developed during conventional hatchery rearing of eggs from wild brood stock, compared with the behaviour of wild-caught juveniles from the same population. Juveniles aged 1+ years were tested in two unfamiliar environments; in one S. salar were presented with simulated predator attacks and in the other they were given the opportunity to explore an open-field arena. No difference was found in their spontaneous escape responses or ventilation rate (reflex responses) after simulated predator attacks. Hatchery-reared juveniles were more risk-prone in their behaviours than wild-caught individuals. Hatchery juveniles stayed less time in association with shelter. In the open-field arena, hatchery juveniles were more active than wild juveniles. Hatchery juveniles were also immobile for less time and spent a shorter amount of time than wild juveniles in the fringe of the open-field arena. Salmo salar size had no effect on the observed behaviour. Overall, this study provides empirical evidence that one generation of hatchery rearing does not change reflex responses associated with threats, whereas antipredator behaviour, typically associated with prior experience, was less developed in hatchery-reared than in wild individuals.

  4. Conceptualizing juvenile prostitution as child maltreatment: findings from the National Juvenile Prostitution Study.

    Science.gov (United States)

    Mitchell, Kimberly J; Finkelhor, David; Wolak, Janis

    2010-02-01

    Two studies were conducted to identify the incidence (Study 1) and characteristics (Study 2) of juvenile prostitution cases known to law enforcement agencies in the United States. Study 1 revealed a national estimate of 1,450 arrests or detentions (95% confidence interval [CI]: 1,287-1,614) in cases involving juvenile prostitution during a 1-year period. In Study 2, exploratory data were collected from a subsample of 138 cases from police records in 2005. The cases are broadly categorized into three main types: (a) third-party exploiters, (b) solo prostitution, and (c) conventional child sexual abuse (CSA) with payment. Cases were classified into three initial categories based on police orientation toward the juvenile: (a) juveniles as victims (53%), (b) juveniles as delinquents (31%), and (c) juvenile as both victims and delinquents (16%). When examining the status of the juveniles by case type, the authors found that all the juveniles in CSA with payment cases were treated as victims, 66% in third-party exploiters cases, and 11% in solo cases. Findings indicate law enforcement responses to juvenile prostitution are influential in determining whether such youth are viewed as victims of commercial sexual exploitation or as delinquents.

  5. Age-Dependent Neurogenesis and Neuron Numbers within the Olfactory Bulb and Hippocampus of Homing Pigeons

    Science.gov (United States)

    Meskenaite, Virginia; Krackow, Sven; Lipp, Hans-Peter

    2016-01-01

    Many birds are supreme long-distance navigators that develop their navigational ability in the first months after fledgling but update the memorized environmental information needed for navigation also later in life. We studied the extent of juvenile and adult neurogenesis that could provide such age-related plasticity in brain regions known to mediate different mechanisms of pigeon homing: the olfactory bulb (OB), and the triangular area of the hippocampal formation (HP tr). Newly generated neurons (visualized by doublecortin, DCX) and mature neurons were counted stereologically in 35 pigeon brains ranging from 1 to 168 months of age. At the age of 1 month, both areas showed maximal proportions of DCX positive neurons, which rapidly declined during the first year of life. In the OB, the number of DCX-positive periglomerular neurons declined further over time, but the number of mature periglomerular cells appeared unchanged. In the hippocampus, the proportion of DCX-positive neurons showed a similar decline yet to a lesser extent. Remarkably, in the triangular area of the hippocampus, the oldest birds showed nearly twice the number of neurons as compared to young adult pigeons, suggesting that adult born neurons in these regions expanded the local circuitry even in aged birds. This increase might reflect navigational experience and, possibly, expanded spatial memory. On the other hand, the decrease of juvenile neurons in the aging OB without adding new circuitry might be related to the improved attachment to the loft characterizing adult and old pigeons. PMID:27445724

  6. Juvenile myoclonic epilepsy Epilepsia mioclônica juvenil

    Directory of Open Access Journals (Sweden)

    Isabel Alfradique

    2007-12-01

    Full Text Available Juvenile myoclonus epilepsy (JME is a common epileptic syndrome, the etiology of which is genetically determined. Its onset occurs from 6 through 22 years of age, and affected patients present with myoclonic jerks, often associated with generalized tonic-clonic seizures - the most common association - and absence seizures. JME is non-progressive, and there are no abnormalities on clinical examination or intellectual deficits. Psychiatric disorders may coexist. Generalized polyspike-and-waves are the most characteristic electroencephalographic pattern. Usual neuroimaging studies show no abnormalities. Atypical presentations should be entertained, as they are likely to induce misdiagnosis. Prevention of precipitating factors and therapy with valproic acid (VPA are able to control seizures in the great majority of patients. Whenever VPA is judged to be inappropriate, other antiepileptic drugs such as lamotrigine may be considered. Treatment should not be withdrawn, otherwise recurrences are frequent.A epilepsia mioclônica juvenil é uma síndrome epiléptica comum, cuja etiologia é fundamentada na genética. Inicia-se entre 6 e 22 anos e os indivíduos apresentam mioclonias, que podem ser acompanhadas por crises tônico-clônicas generalizadas - associação mais comum - e crises de ausência. A doença não é progressiva, e não há alterações detectáveis no exame físico ou déficits intelectuais. Distúrbios psiquiátricos podem coexistir. Polipontas-ondas lentas generalizadas constituem o padrão eletrencefalográfico ictal típico. Não há anormalidades em exames de imagem convencionais. Apresentações atípicas devem ser consideradas, pois predispõem a erros de diagnóstico. A prevenção de fatores desencadeantes e o uso de ácido valpróico (VPA controlam as crises epilépticas na grande maioria dos casos. Quando o VPA é inapropriado, outras drogas como a lamotrigina podem ser utilizadas. O tratamento não deve ser interrompido

  7. Juvenile idiopathic arthritis and the temporomandibular joint ...

    African Journals Online (AJOL)

    ... resonance imaging findings of temporomandibular joint inflammation among juvenile ... The mean total MRI score was significantly higher in patients with active ... Clinical signs of TMJ arthritis can be used as filter for MRI examination TMJ is ...

  8. Bilateral giant juvenile fibroadenoma of breasts

    Directory of Open Access Journals (Sweden)

    Mukhopadhyay Madhumita

    2009-01-01

    Full Text Available An 11-year-old girl with rapidly enlarging bilateral breast lumps is reported. It was diagnosed as a case of juvenile fibroadenoma following fine needle aspiration cytology and confirmed on histopathological examination of the excised specimens.

  9. Genetics Home Reference: juvenile Paget disease

    Science.gov (United States)

    ... Information & Resources MedlinePlus (1 link) Health Topic: Bone Diseases Genetic and Rare Diseases Information Center (1 link) Juvenile ... on PubMed Daroszewska A, Ralston SH. Mechanisms of disease: genetics of Paget's disease of bone and related disorders. ...

  10. Genetics Home Reference: juvenile hyaline fibromatosis

    Science.gov (United States)

    ... Antaya RJ, Cajaiba MM, Madri J, Lopez MA, Ramirez MC, Martignetti JA, Reyes-Múgica M. Juvenile hyaline ... 103. Citation on PubMed Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili ...

  11. Acute Lymphoblastic Leukaemia presenting as Juvenile Idiopathic ...

    African Journals Online (AJOL)

    Acute Lymphoblastic Leukaemia presenting as Juvenile Idiopathic Arthritis in a Nigerian boy. ... lead to delay in commencing appropriate treatment. ... of two months duration, had an elevated Rheumatoid factor and X-ray findings suggestive of ...

  12. Screening Incarcerated Juveniles Using the MAYSI-2.

    Science.gov (United States)

    Gilbert, Amy L; Grande, Todd L; Hallman, Janelle; Underwood, Lee A

    2015-01-01

    The high prevalence of mental health disorders among incarcerated juveniles is a matter of national and global concern. Juvenile justice personnel need accurate screening measures that identify youth requiring immediate mental health services. The purpose of this study was threefold: (a) to examine the utility of the Massachusetts Youth Screening Instrument, Version 2 (MAYSI-2) in identifying juveniles with mental health concerns in a large sample of juveniles (N = 4,009), (b) to provide data regarding rates of identified mental health needs in incarcerated youth, and (c) to provide descriptive comparisons to other studies using the MAYSI-2. Mean scores of subscales were compared with the MAYSI-2 normative samples and other recent studies. Results indicated that this population has a high occurrence of mental health symptoms and there is high variability in the severity of the symptoms. In addition, a multivariate analysis of variance test found significant differences in mental health problems across ethnic groups.

  13. SAB Juvenile Reef Fish (2002-2015)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Trawls were made during the summer months in shallow seagrass beds to monitor the number and species of juvenile snapper using the grass as a nursery.

  14. AFSC/ABL: Juvenile rockfish habitat utilization

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Juvenile rockfish were observed amongst coral, sponge, cobble, and gravel habitats. Rockfish utilized coral habitats more than any other, while gravel was the least...

  15. General artificial neuron

    Science.gov (United States)

    Degeratu, Vasile; Schiopu, Paul; Degeratu, Stefania

    2007-05-01

    In this paper the authors present a model of artificial neuron named the general artificial neuron. Depending on application this neuron can change self number of inputs, the type of inputs (from excitatory in inhibitory or vice versa), the synaptic weights, the threshold, the type of intensifying functions. It is achieved into optoelectronic technology. Also, into optoelectronic technology a model of general McCulloch-Pitts neuron is showed. The advantages of these neurons are very high because we have to solve different applications with the same neural network, achieved from these neurons, named general neural network.

  16. Age-dependent plasticity of sex pheromone response in the moth, Agrotis ipsilon: combined effects of octopamine and juvenile hormone

    DEFF Research Database (Denmark)

    Jarriault, David; Barrozo, Romina B; de Carvalho Pinto, Carlos J

    2009-01-01

    Male moths use sex pheromones to find their mating partners. In the moth, Agrotis ipsilon, the behavioral response and the neuron sensitivity within the primary olfactory centre, the antennal lobe (AL), to sex pheromone increase with age and juvenile hormone (JH) biosynthesis. By manipulating...... the effects of OA and an OA receptor antagonist, mianserin, on behavioral and AL neuron responses of mature and immature males during stimulation with sex pheromone. Our results indicate that, although OA injections enhanced the behavioral pheromone response in mature males, OA had no significant effect...... a behavioral response of A. ipsilon males to sex pheromone....

  17. An Empirical Evaluation of Juvenile Awareness Programs in the United States: Can Juveniles Be "Scared Straight"?

    Science.gov (United States)

    Klenowski, Paul M.; Bell, Keith J.; Dodson, Kimberly D.

    2010-01-01

    Juvenile awareness programs like Scared Straight became popular crime prevention strategies during the 1970s. Juvenile offenders and at-risk youth who participate in these programs are taken to prisons where inmates use confrontational methods to recount stories about violence, sex, and abuse perpetrated by fellow inmates while living a life…

  18. Juvenile fibromyalgia: Guidance for management.

    Science.gov (United States)

    Yokota, Shumpei; Kikuchi, Masako; Miyamae, Takako

    2013-08-01

    Juvenile fibromyalgia (JFM) is a disease in which patients complain of acute and chronic severe pain, an overt primary cause for which cannot be found or surmised. Although patients with JFM mainly complain of systemic pain or allodynia in the medical interview and physical examination, the concept of the disease is the total sum of painful illness, chronic fatigue, hypothermia and many other autonomic symptoms and signs. Many issues are interacting including individual traits (personality, temperament, sensitivity, memory of pain; age: early adolescence), individual states (self-esteem, anxiety, developmental level), and external stressors (parent especially mother, school environment). JFM is diagnosed on the combination of disease history, physical examination to determine the 18 tender points and allodynia, pain from gently touching their hair, and negative results of blood tests (inflammatory markers, thyroid function, myogenic enzymes). The goals of treatment are the following: restoration of function and relief of pain. Psychological support is advocated. Although the exact number of patients with JFM is still to be elucidated, it seems to be growing because pediatric rheumatologists in Japan encounter children with a wide variety of musculoskeletal pains. This guideline describes how to diagnose JFM in children and how to treat them appropriately.

  19. Academic Achievement Among Juvenile Detainees.

    Science.gov (United States)

    Grigorenko, Elena L; Macomber, Donna; Hart, Lesley; Naples, Adam; Chapman, John; Geib, Catherine F; Chart, Hilary; Tan, Mei; Wolhendler, Baruch; Wagner, Richard

    2015-01-01

    The literature has long pointed to heightened frequencies of learning disabilities (LD) within the population of law offenders; however, a systematic appraisal of these observations, careful estimation of these frequencies, and investigation of their correlates and causes have been lacking. Here we present data collected from all youth (1,337 unique admissions, mean age 14.81, 20.3% females) placed in detention in Connecticut (January 1, 2010-July 1, 2011). All youth completed a computerized educational screener designed to test a range of performance in reading (word and text levels) and mathematics. A subsample (n = 410) received the Wide Range Achievement Test, in addition to the educational screener. Quantitative (scale-based) and qualitative (grade-equivalence-based) indicators were then analyzed for both assessments. Results established the range of LD in this sample from 13% to 40%, averaging 24.9%. This work provides a systematic exploration of the type and severity of word and text reading and mathematics skill deficiencies among juvenile detainees and builds the foundation for subsequent efforts that may link these deficiencies to both more formal, structured, and variable definitions and classifications of LD, and to other types of disabilities (e.g., intellectual disability) and developmental disorders (e.g., ADHD) that need to be conducted in future research.

  20. NEURON and Python

    OpenAIRE

    Michael Hines; Davison, Andrew P.; Eilif Muller

    2009-01-01

    The NEURON simulation program now allows Python to be used, alone or in combination with NEURON's traditional Hoc interpreter. Adding Python to NEURON has the immediate benefit of making available a very extensive suite of analysis tools written for engineering and science. It also catalyzes NEURON software development by offering users a modern programming tool that is recognized for its flexibility and power to create and maintain complex programs. At the same time, nothing is lost because ...

  1. The NG2 Protein Is Not Required for Glutamatergic Neuron-NG2 Cell Synaptic Signaling.

    Science.gov (United States)

    Passlick, Stefan; Trotter, Jacqueline; Seifert, Gerald; Steinhäuser, Christian; Jabs, Ronald

    2016-01-01

    NG2 glial cells (as from now NG2 cells) are unique in receiving synaptic input from neurons. However, the components regulating formation and maintenance of these neuron-glia synapses remain elusive. The transmembrane protein NG2 has been considered a potential mediator of synapse formation and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) clustering, because it contains 2 extracellular Laminin G/Neurexin/Sex Hormone-Binding Globulin domains, which in neurons are crucial for formation of transsynaptic neuroligin-neurexin complexes. NG2 is connected via Glutamate Receptor-Interacting Protein with GluA2/3-containing AMPARs, thereby possibly mediating receptor clustering in glial postsynaptic density. To elucidate the role of NG2 in neuron-glia communication, we investigated glutamatergic synaptic transmission in juvenile and aged hippocampal NG2 cells of heterozygous and homozygous NG2 knockout mice. Neuron-NG2 cell synapses readily formed in the absence of NG2. Short-term plasticity, synaptic connectivity, postsynaptic AMPAR current kinetics, and density were not affected by NG2 deletion. During development, an NG2-independent acceleration of AMPAR current kinetics and decreased synaptic connectivity were observed. Our results indicate that the lack of NG2 does not interfere with genesis and basic properties of neuron-glia synapses. In addition, we demonstrate frequent expression of neuroligins 1-3 in juvenile and aged NG2 cells, suggesting a role of these molecules in synapse formation between NG2 glia and neurons.

  2. Neuronal network plasticity and recovery from depression.

    Science.gov (United States)

    Castrén, Eero

    2013-09-01

    The brain processes sensory information in neuronal networks that are shaped by experience, particularly during early life, to optimally represent the internal and external milieu. Recent surprising findings have revealed that antidepressant drugs reactivate a window of juvenile-like plasticity in the adult cortex. When antidepressant-induced plasticity was combined with appropriate rehabilitation, it brought about a functional recovery of abnormally wired neuronal networks. These observations suggest that antidepressants act permissively to facilitate environmental influence on neuronal network reorganization and so provide a plausible neurobiological explanation for the enhanced effect of combining antidepressant treatment with psychotherapy. The results emphasize that pharmacological and psychological treatments of mood disorders are closely entwined: the effect of antidepressant-induced plasticity is facilitated by rehabilitation, such as psychotherapy, that guides the plastic networks, and psychotherapy benefits from the enhanced plasticity provided by the drug treatment. Optimized combinations of pharmacological and psychological treatments might help make best use of existing antidepressant drugs and reduce the number of treatment-resistant patients. The network hypothesis of antidepressant action presented here proposes that recovery from depression and related mood disorders is a gradual process that develops slowly and is facilitated by structured guidance and rehabilitation.

  3. Pendidikan Agama Islam Sebagai Pencegah Juvenile Delinquency

    Directory of Open Access Journals (Sweden)

    Yuli Choirul Umah

    2016-09-01

    Full Text Available The challenges of Islamic education in the era of globalization are getting stronger now. It’s visible clearly changes happening so fast. The rapid of globalization is not only affect for adults, but also children, adolescents. A problem that often arises in the community revolves around the problems of Juvenile (teenagers, education and social community. Because adolescence is known as self-identity searching, so teens that can fulfill their role will have a positive impact, such as children understand their responsibilities better, and if they cannot, then there will emerge the exact opposite behavior that occurs an aberration or delinquency (juvenile delinquency. The existence of juvenile delinquency at this time also affect increasing in crime or criminal behavior in community. Juvenile delinquency can destroy moral values, the noble values ​​of religion, and the various aspects of the subject matter contained therein. Understanding, deepening, and adherence to the teachings of religion, especially Islamic education is required by the juvenile. Because Islamic education is a systematic effort by educators and adults to students both physical and spiritual by Islamic law to led the formation of personality according to the standard of Islam. Because in fact the children or adolescents who commit delinquency or crime mostly less understand the norms of Islam, perhaps they are negligent in fulfill the commandments of religion.

  4. PENDIDIKAN AGAMA ISLAM SEBAGAI PENCEGAH JUVENILE DELINQUENCY

    Directory of Open Access Journals (Sweden)

    Yuli Choirul Umah

    2016-09-01

    Full Text Available The challenges of Islamic education in the era of globalization are getting stronger now. It’s visible clearly changes happening so fast. The rapid of globalization is not only affect for adults, but also children, adolescents. A problem that often arises in the community revolves around the problems of Juvenile (teenagers, education and social community. Because adolescence is known as self-identity searching, so teens that can fulfill their role will have a positive impact, such as children understand their responsibilities better, and if they cannot, then there will emerge the exact opposite behavior that occurs an aberration or delinquency (juvenile delinquency. The existence of juvenile delinquency at this time also affect increasing in crime or criminal behavior in community. Juvenile delinquency can destroy moral values, the noble values of religion, and the various aspects of the subject matter contained therein. Understanding, deepening, and adherence to the teachings of religion, especially Islamic education is required by the juvenile. Because Islamic education is a systematic effort by educators and adults to students both physical and spiritual by Islamic law to led the formation of personality according to the standard of Islam. Because in fact the children or adolescents who commit delinquency or crime mostly less understand the norms of Islam, perhaps they are negligent in fulfill the commandments of religion.

  5. Psychiatric and Medical Health Care Policies in Juvenile Detention Facilities

    Science.gov (United States)

    Pajer, Kathleen A.; Kelleher, Kelly; Gupta, Ravindra A.; Rolls, Jennifer; Gardner, William

    2007-01-01

    A study aims to examine the existing health care policies in U.S. juvenile detention centres. The results conclude that juvenile detention facilities have many shortfalls in providing care for adolescents, particularly mental health care.

  6. AFSC/ABL: Juvenile rockfish DNA species identification

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Many pelagic juvenile rockfish (Sebastes) were collected in juvenile salmonid surveys in the Gulf of Alaska (GOA) from 1998 to 2002. Often species identification of...

  7. A case report of juvenile Huntington disease

    Directory of Open Access Journals (Sweden)

    Anita Choudhary

    2017-09-01

    Full Text Available Huntington disease (HD is a progressive neurodegenerative disorder, characterized by autosomal dominant inheritance, movement disorder, dementia, and behavioural disturbances. It is caused by a mutation in IT15 gene on chromosome 4p16.3, which leads to unstable CAG trinucleotide repeat expansion. The onset of juvenile HD occurs before the 2nd decade of life and comprises approximately 10% of total HD patients. Juvenile HD differs in symptomatology and is usually transmitted from paternal side with genetic anticipation phenomenon. Magnetic resonance imaging (MRI of the brain shows specific changes of early affection of caudate nucleus and putamen. Multidisciplinary approach with symptomatic treatment of specific symptoms is the current available management. Gene editing and gene silencing treatment are under trial. Hereby, we introduce a case of an 8-year-old boy, who presented with typical symptoms of juvenile HD, positive family history with genetic anticipation phenomenon and characteristic MRI findings.

  8. Corporal and capital punishment of juveniles.

    Science.gov (United States)

    Frazier, H C

    1990-01-01

    There is a previously unobserved connection between corporal punishment of public school children and capital punishment of juveniles. Both are barometers of acceptable levels of violent punishment and their elimination is a hallmark of a maturing and decent society. Within a majority of the eighteen states where school authorities most frequently strike children are housed 25 of the nation's 28 juvenile death row inmates. On average, the homicide rates of these jurisdictions are two and a half times greater than those that have abolished both state-sanctioned corporal and capital punishment or limit death sentences to those age eighteen and older at the time of their crime(s). Most of the eighteen state abolitions of corporal punishment occurred in the 1980's. The US Supreme Court has ruled both corporal and capital punishment of juveniles constitutional. Additional state legislative abolition of both is anticipated in the 1990s.

  9. Delincuencia y responsabilidad penal juvenil en Colombia

    Directory of Open Access Journals (Sweden)

    Cristina Montalvo Velásquez

    2011-01-01

    Full Text Available ResumenEl término «delincuencia juvenil» fue acuñado en Inglaterra en el año 1815, “Se entiende por delincuencia juvenil el conjunto de delitos, contravenciones o comportamientos socialmente reprochables, que cometen las personas consideradas como jóvenes por la ley”1 . Cada Estado está sujeto a su propio sistema jurídico, para algunos es delincuente juvenil el adolescente que comete acciones sancionadas por la ley sin importar su gravedad, otros Estados sólo consideran como delincuente juvenil al joven que comete un acto delictivo grave.El fenómeno de la delincuencia juvenil es algo que se inscribe en los espacios de una sociedad en la cual su estructura material, y su formación social consecuente, se halla en una profunda crisis. Que jóvenes conformen bandas de delincuencia organizada nos está indicando que son el resultado de la misma criminalidad general que se ha apoderado de la sociedad en la perspectiva de lograr sobrevivir materialmente. El capitalismo no es sólo acumulación de riqueza sino concentración de la misma en muy pocas manos; y todo el sistema institucional y legal tiende a favorecer ese fenómeno porque éste constituye la supra estructura del modo de producción capitalista. Así como los adultos se organizan para delinquir, lo hacen los niños y los jóvenes a partir de una edad en la cual pueden percibir que la sociedad no es sana y no tienen porvenir humano en ella. Abandonados y sujetos a la violencia que engendra el sistema, ellos simplemente responden en una manifestación de reflejos condicionados que sostienen la sobrevivencia en forma instintiva; “los niños no saben de normas legales sino de formas de sobrevivir a semejante situación; el instinto de sobrevivencia no tiene edades ni la normatividad puede incidir en él”.Palabras ClavesDelincuencia juvenil, Jóvenes, Criminalidad, Familia, Factores, Acto delictivo, Responsabilidad Penal.AbstractThe term “juvenile delinquency” was coined in

  10. Immunization Coverage Among Juvenile Justice Detainees.

    Science.gov (United States)

    Gaskin, Gregory L; Glanz, Jason M; Binswanger, Ingrid A; Anoshiravani, Arash

    2015-07-01

    This study sought to (1) quantify the baseline immunization coverage of adolescents entering the juvenile justice system and (2) assess the effect of detention-based care on immunization coverage in youth. A cross-sectional retrospective chart review was performed of 279 adolescents detained at a large juvenile detention facility. Only 3% of adolescents had received all study immunizations prior to detention. Before detention, immunization coverage was significantly lower than that for the general adolescent population for all vaccines except the first doses of hepatitis A and varicella-zoster virus vaccines. Subsequent to detention, most individual immunization coverage levels increased and were significantly higher than in the general adolescent population. The routine administration of immunizations in the juvenile justice setting can help detained youth achieve levels of immunization coverage similar to their nondetained peers.

  11. Effect of TBT on Ruditapes decussatus juveniles.

    Science.gov (United States)

    Coelho, M R; Langston, W J; Bebianno, M J

    2006-06-01

    The effects of sublethal concentrations of tributyltin (TBT) on growth of juvenile clams Ruditapes decussatus were determined during exposure to TBT concentrations of 50, 100 and 250 ng l(-1) (as Sn) for a period up to two years. Length and weight of clams increased continuously in all treatments throughout the experimental period, and, overall, rates were not significantly influenced by TBT exposure, although final length and weight were inversely related to increasing TBT concentration. Juvenile R. decussatus therefore appear to be less sensitive to TBT than larval stages. Some juveniles exposed to TBT developed abnormal shell growth, laterally, changing the typical flattened shape of clams into a more "rounded" form. This characteristic was more visible in the anterior margins of valves than posteriorly, and mainly observed in clams exposed to TBT at 50 ng l(-1) (as Sn).

  12. Juvenile Fibromyalgia: A Multidisciplinary Approach to Treatment.

    Science.gov (United States)

    Tesher, Melissa S

    2015-06-01

    A 14-year-old boy presented with months of severe widespread musculoskeletal pain. He was profoundly fatigued and unable to attend school. Laboratory evaluation, including complete blood count, comprehensive metabolic panel, inflammatory markers, and thyroid function, was unrevealing. Physical examination was also normal except for multiple tender points. The patient was diagnosed with juvenile primary fibromyalgia syndrome and referred for multidisciplinary treatment including physical therapy, exercise, and counseling, and his daily functioning gradually improves. Juvenile fibromyalgia is a complex syndrome that often severely limits patients' activities and can impede normal adolescent development. Effective treatment requires an understanding of the biologic, psychologic, and social factors contributing to the perpetuation of chronic pain. The author reviews the diagnostic criteria, pathophysiology, and treatment of juvenile fibromyalgia. Medications, particularly antidepressants and anticonvulsants, can be useful adjuncts to therapy. However, multimodal pain management including intensive physical therapy, exercise, counseling, and sleep hygiene is most effective in treating fibromyalgia.

  13. Juvenile age estimation from facial images.

    Science.gov (United States)

    Ferguson, Eilidh; Wilkinson, Caroline

    2017-01-01

    Age determination from images can be of vital importance, particularly in cases involving suspected child sexual abuse (CSA). It is imperative to determine if an individual depicted in such an image is indeed a child, with a more concise age often sought, as this may affect the severity of offender sentencing. The aims of this study were to establish the accuracy of visual age estimation of the juvenile face in children aged between 0 and 16years and to determine if varying levels of exposure to children affected an individual's ability to assess age from the face. An online questionnaire consisting of 30 juvenile face images was created using SurveyMonkey®. The overall results suggested poor accuracy for visual age estimation of juvenile faces. The age, sex, occupation and number of children of the participants did not affect the ability to estimate age from facial images. Similarly, the sex and age of the juvenile faces did not appear to affect the accuracy of age estimation. When specific age groups are considered, sex may have an influence on age estimation, with female faces being aged more accurately in the younger age groups and male faces more accurate after the age of 11years, however this is based on a small sample. This study suggests that the accuracy of juvenile age estimation from the face alone is poor using simple visual assessment of images. Further research is required to determine exactly how age is assessed from a facial image, if there are indicators, or features in particular that lead to over- or under-estimation of juvenile age.

  14. Immunohistochemical insights into Saffold virus infection of the brain of juvenile AG129 mice.

    Science.gov (United States)

    Tan, Shawn Zheng Kai; Prabakaran, Mookkan

    2016-11-25

    Saffold Virus (SAFV) is a human cardiovirus that is suspected of causing infection of the central nervous system (CNS) in children. While recent animal studies have started to elucidate the pathogenesis of SAFV, very little is known about the mechanisms behind it. In this study, we attempted to elucidate some of the mechanisms of the pathogenesis of SAFV in the brain of a juvenile mouse model by using immunohistochemical methods. We first showed that SAFV is able to infect both neuronal and glial cells in the brain of 2 week-old AG129 mice. We then showed that SAFV is able to induce apoptosis in both neuronal and glial cells in the brain. Lastly, we showed that SAFV infection does not show any signs of gross demyelination in the brain. Overall, our results provide important insights into the mechanisms of SAFV in the brain.

  15. Study of a new neuron

    CERN Document Server

    Adler, Stephen Louis; Weckel, J D

    1994-01-01

    We study a modular neuron alternative to the McCulloch-Pitts neuron that arises naturally in analog devices in which the neuron inputs are represented as coherent oscillatory wave signals. Although the modular neuron can compute XOR at the one neuron level, it is still characterized by the same Vapnik-Chervonenkis dimension as the standard neuron. We give the formulas needed for constructing networks using the new neuron and training them using back-propagation. A numerical study of the modular neuron on two data sets is presented, which demonstrates that the new neuron performs at least as well as the standard neuron.

  16. Juvenile dermatomyositis in a Nigerian girl

    Science.gov (United States)

    Adelowo, Olufemi; Nwankwo, Madu; Olaosebikan, Hakeem

    2014-01-01

    Juvenile dermatomyositis is an autoimmune connective tissue disease occurring in children less than 16 years old. It is part of a heterogeneous group of muscle diseases called idiopathic Iiflammatory myopathies. It had previously been reported in black Africans resident in UK. However, there is no documented case reported from Africa. The index sign of heliotrope rashes is often difficult to visualise in the black skin. An 11-year-old Nigerian girl presenting with clinical, laboratory and histopathological features of juvenile dermatomyositis is presented here. It is hoped that this case will heighten the index of suspicion of this condition among medical practitioners in Africa. PMID:24706700

  17. Posttraumatic stress among youths in juvenile detention.

    Science.gov (United States)

    Falk, Derek; Thompson, Sanna J; Sanford, Julia

    2014-01-01

    An estimated 1.8 million juveniles were arrested in the United States for delinquency in 2009. Previous studies indicate high rates of exposure to traumatic events and posttraumatic stress (PTS) symptoms for these youths. This study examined PTS in a sample of 170 youths in juvenile detention. The results of this study reveal higher rates of PTS symptoms (21%) compared to national rates (6%). The data also suggest youths suffering from more PTS symptoms also report higher depression, anxiety, anger, family relationship worries, thought problems, and attention problems. These factors provide a direction for continued practice targeting these youths.

  18. [HLA antigens in juvenile rheumatoid arthritis].

    Science.gov (United States)

    Rumba, I V; Sochnev, A M; Kukaĭne, E M; Burshteĭn, A M; Benevolenskaia, L I

    1990-01-01

    Antigens of I class HLA system (locus A and B) were investigated in 67 patients of Latvian nationality suffering from juvenile rheumatoid arthritis (JRA). Associations of HLA antigens with juvenile rheumatoid arthritis partially coincided with the ones revealed earlier. Typing established an increased incidence of antigen B27 (p less than 0.01) and gaplotype A2, B40 (p less than 0.01). Antigen B15 possessed a protective action with respect to JRA. Interlocus combinations demonstrated a closer association with the disease than a single antigen. The authors also revealed markers of various clinico-anatomical variants of JRA.

  19. Metabolic responses to hypoglycemia in juvenile diabetics

    DEFF Research Database (Denmark)

    Hilsted, J; Madsbad, S; Krarup, T;

    1980-01-01

    Glucagon and metabolic responses to insulin-induced hypoglycemia were studied in seven juvenile diabetics, age 31 +/- 2 years (mean and S.E.M.), duration of diabetes 17 +/- 3 years, with diabetic autonomic neuropathy (decreased beat-to-beat variation in heart rate during hyperventilation and...... in both patient groups. Metabolic responses to hypoglycemia were also similar in the two patient groups. In conclusion, diabetic autonomic neuropathy has no effect on glucagon and metabolic responses to hypoglycemia in juvenile, insulin-treated diabetics....

  20. Juvenil Pityriasis Rubra Pilaris: A Case Report

    Directory of Open Access Journals (Sweden)

    M. Emin YANIK et al.

    2010-05-01

    Full Text Available Juvenile pityriasis rubra pilaris (PRP is an uncommon skin disease characterized by follicularkeratotic papules, erythemato-squamous plaques and palmoplantar keratoderma. Etyology isunknown. A 8 years-old boy presented with a 15 days history of scaly patches and plaques withfollicular papules involving his scalp and face. However he had palmoplantar keratoderma onhis hands and feet. Based upon clinical and histopatological findings, he was diagnosed asJuvenile PRP. Acitretin was initiated for therapy. We presented our case because of its rarity.

  1. Acupuntura em adolescentes com fibromialgia juvenil

    OpenAIRE

    Dias,Marialda Höfling P.; Amaral,Elisabete; PAI, Hong Jin; Daniela Terumi Y. Tsai; LOTITO, Ana Paola N; Leone,Claudio; Silva, Clovis Artur

    2012-01-01

    OBJETIVO: Descrever a utilização da acupuntura em adolescentes com fibromialgia juvenil. MÉTODOS: Estudo retrospectivo realizado em pacientes com fibromialgia juvenil (critérios do Colégio Americano de Reumatologia) submetidos a, pelo menos, 11 sessões semanais de acupuntura. As avaliações antes e após acupuntura incluíram dados demográficos, características da dor musculoesquelética, número de pontos dolorosos (NPD), escala visual analógica (EVA) de dor, algiometria e índice miálgico (IM). D...

  2. Resiliency Scales for Children and Adolescents: Profiles of Juvenile Offenders

    Science.gov (United States)

    Mowder, Melissa H.; Cummings, Jack A.; McKinney, Robert

    2010-01-01

    An exploratory study of resiliency profiles of male and female juvenile offenders committed to a juvenile correctional facility was conducted. The goal of the present study was to examine juvenile offenders' positive characteristics (e.g., adaptability, optimism, self-efficacy, tolerance of differences). To assess positive characteristics and…

  3. Programa Shortstop: A Culturally Focused Juvenile Intervention for Hispanic Youth

    Science.gov (United States)

    Cervantes, Richard C.; Ruan, Karen; Duenas, Norma

    2004-01-01

    Culturally sensitive juvenile delinquency and substance abuse interventions are relatively limited and unavailable to many first-time Hispanic juvenile offenders. The purpose of this study was to test the effectiveness of a culturally focused juvenile and substance abuse intervention program for first time Hispanic youth offenders. The intent of…

  4. Increased Cyclooxygenase-2 Expression in Juvenile Polyposis Syndrome

    NARCIS (Netherlands)

    W.A. van Hattem; L.A.A. Brosens; S.Y. Marks; A.N.A. Milne; S. van Eeden; C.A. Iacobuzio-Donahue; A. Ristimäki; F.M. Giardiello; G.J.A. Offerhaus

    2009-01-01

    Background & Aims: Gastrointestinal juvenile polyps may occur in juvenile polyposis syndrome (JPS) or sporadically. JPS is an autosomal-dominant condition caused by a germline defect in SMAD4 or BMPR1A in 50% to 60% of cases, and is characterized by multiple juvenile polyps, predominantly in the col

  5. Chronic Juvenile Delinquency and the "Suppression Effect": An Exploratory Study.

    Science.gov (United States)

    Fraser, Mark; Norman, Michael

    1988-01-01

    Notes that fear of apprehension and punishment have been reported to suppress juvenile crime. Discusses suppression effect in regard to the correlates of chronic juvenile delinquency and exploratory evidence that youth who commit large volume of crime do not fear sanctions imposed by juvenile court any more than youth who commit only one offense…

  6. Lateralization of the connections of the ovary to the celiac ganglia in juvenile rats

    Directory of Open Access Journals (Sweden)

    Handal Anabella

    2009-05-01

    Full Text Available Abstract During the development of the female rat, a maturing process of the factors that regulate the functioning of the ovaries takes place, resulting in different responses according to the age of the animal. Studies show that peripheral innervation is one relevant factor involved. In the present study we analyzed the anatomical relationship between the neurons in the celiac-superior mesenteric ganglia (CSMG, and the right or left ovary in 24 or 28 days old female pre-pubertal rats. The participation of the superior ovarian nerve (SON in the communication between the CSMG and the ovaries was analyzed in animals with unilateral section of the SON, previous to injecting true blue (TB into the ovarian bursa. The animals were killed seven days after treatment. TB stained neurons were quantified at the superior mesenteric-celiac ganglia. The number of labeled neurons in the CSMG of rats treated at 28 days of age was significantly higher than those treated on day 24. At age 24 days, injecting TB into the right ovary resulted in neuron stains on both sides of the celiac ganglia; whereas, injecting the left side the stains were exclusively ipsilateral. Such asymmetry was not observed when the rats were treated at age of 28 days. In younger rats, sectioning the left SON resulted in significantly lower number of stained neurons in the left ganglia while sectioning the right SON did not modify the number of stained neurons. When sectioning of the SON was performed to 28 days old rats, no staining was observed. Present results show that the number and connectivity of post-ganglionic neurons of the CSMG connected to the ovary of juvenile female rats change as the animal mature; that the SON plays a role in this communication process as puberty approaches; and that this maturing process is different for the right or the left ovary.

  7. Cajal bodies in neurons.

    Science.gov (United States)

    Lafarga, Miguel; Tapia, Olga; Romero, Ana M; Berciano, Maria T

    2016-09-14

    Cajal is commonly regarded as the father of modern neuroscience in recognition of his fundamental work on the structure of the nervous system. But Cajal also made seminal contributions to the knowledge of nuclear structure in the early 1900s, including the discovery of the "accessory body" later renamed "Cajal body" (CB). This important nuclear structure has emerged as a center for the assembly of ribonucleoproteins (RNPs) required for splicing, ribosome biogenesis and telomere maintenance. The modern era of CB research started in the 1990s with the discovery of coilin, now known as a scaffold protein of CBs, and specific probes for small nuclear RNAs (snRNAs). In this review, we summarize what we have learned in the recent decades concerning CBs in post-mitotic neurons, thereby ruling out dynamic changes in CB functions during the cell cycle. We show that CBs are particularly prominent in neurons, where they frequently associate with the nucleolus. Neuronal CBs are transcription-dependent nuclear organelles. Indeed, their number dynamically accommodates to support the high neuronal demand for splicing and ribosome biogenesis required for sustaining metabolic and bioelectrical activity. Mature neurons have canonical CBs enriched in coilin, survival motor neuron protein and snRNPs. Disruption and loss of neuronal CBs associate with severe neuronal dysfunctions in several neurological disorders such as motor neuron diseases. In particular, CB depletion in motor neurons seems to reflect a perturbation of transcription and splicing in spinal muscular atrophy, the most common genetic cause of infant mortality.

  8. Juvenile rheumatoid arthritis: therapeutic perspectives.

    Science.gov (United States)

    Chikanza, Ian C

    2002-01-01

    Juvenile rheumatoid arthritis (JRA) is the most common childhood chronic systemic autoimmune inflammatory disease. The therapeutic approach to JRA has, to date, been casual and based on extensions of clinical experiences gained in the management of adult rheumatoid arthritis (RA). The physiology of inflammation has been systemically studied and this has led to the identification of specific therapeutic targets and the development of novel approaches to the management of JRA. The classical treatments of the disease such as methotrexate, sodium aurothiomalate and sulfasalazine, are not always effective in controlling RA and JRA. This has necessitated the development of novel agents for treating RA, most of which are biological in nature and are targeted at specific sites of the inflammatory cascades. These biological therapeutic strategies in RA have proved successful and are being applied in the management of JRA. These developments have been facilitated by the advances in molecular biology which have heralded the advent of biodrugs (recombinant proteins) and gene therapy, in which specific genes can be introduced locally to enhance in vivo gene expression or suppress gene(s) of interest with a view to down-regulating inflammation. Some of these biodrugs, such as anti-tumor necrosis factor alpha (anti-TNFalpha), monoclonal antibodies (infliximab, adalimumab), TNF soluble receptor constructs (etanercept) and interleukin-1 receptor antagonist (IL-1Ra) have been tested and shown to be effective in RA. Etanercept has now been licensed for JRA. Clinical trials of infliximab in JRA are planned. Studies show that the clinical effects are transient, necessitating repeated treatments and the risk of vaccination effects. Anti-inflammatory cytokines such as IL-4, IL-10, transforming growth factor-beta and interferon-beta (IFN-beta) are undergoing clinical trials. Many of these agents have to be administered parenterally and production costs are very high; thus, there is a need

  9. 惊厥持续状态幼年大鼠海马中葡萄糖调节蛋白78与半胱氨酸门冬氨酸特异性蛋白酶12的表达及依达拉奉对其影响%Effects of edravone on the expression of GRP78, Caspase-12, and neuron apoptosis in juvenile rat hippocampus after status convulsivus

    Institute of Scientific and Technical Information of China (English)

    李光乾; 王海萍; 蒋春明

    2011-01-01

    Objective To observe the expression of GRP78 (glucose regulated protein, GRP78),Caspase-12 and the change of neuron apoptosis in the juvenile rat hippocampus after status convulsivus ( SC), and to explore the effect of edaravone on them. Methods One hundred and ninety-five juvenile male Sprague-Dawley(SD) rats were randomly divided into normal saline control group (NS group), status convulsivus group(SC group)and edaravone treatment group( ED group). Each group was further divided into five subgroups in different executed time points after SC. The rats in status convulsivus group were kindled into epilepsy by lithium-pilocarpine method. Expression of GRP78 mRNA and caspase-12 mRNA was detected with reverse transcription-polymerase chain reaction (RT-PCR) method. Expressions of GRP78and caspase-12 protein were detected with immunohistochemical methods. The neuron gpoptosis was observed by TdT-mediated dUTP nick end labeling (TUNEL). Results (1) Measured by immunohistochemistry the value of OD of GRP78 ( 0. 1480 ± 0. 0164,0. 1682 ± 0. 0114, and 0. 1540 ±0. 0102,respectively, 12 h-48 h points ) and caspase-12 ( 0. 1325 ± 0. 0165,0. 1794 ± 0. 0213,0. 1525 ±0. 0423, and 0. 1309 ± 0. 0199, respectively, 12 h-72 h points)positive cells in the SC group increased, there was a significant difference compared with NS group (GRP78: 0. 1214 ± 0. 0147,0. 1272 ± 0. 0177, and 0. 1260 ±0. 0157, respectively, 12 h-72 h points. Caspase-12:0. 1050 ±0. 0121,0. 1041 ± 0. 0151,0. 1058±0. 0222, and 0. 1036 ± 0. 0186, respectively, 12 h-72 h points ) ( P < 0. 01, or P < 0. 05 ). By ED intervention GRP78 ( 0. 1550 ± 0. 0131, 0. 1886 ± 0. 0154, and 0. 1721 ± 0. 0151, respectively, 12 h-48 h points) positive cells value of the OD increased as compared with SC group (P < 0. 01, or P < 0. 05 ). and caspase-12(0. 1211 ±0.0184,0. 1545 ±0.0205,and 0. 1085 ± 0.0219,respectively, 12 h,24 h and 72 h points) positive cells value of the A decreased as compared with SC group

  10. The challenges of the first migration: movement and behaviour of juvenile vs. adult white storks with insights regarding juvenile mortality.

    Science.gov (United States)

    Rotics, Shay; Kaatz, Michael; Resheff, Yehezkel S; Turjeman, Sondra Feldman; Zurell, Damaris; Sapir, Nir; Eggers, Ute; Flack, Andrea; Fiedler, Wolfgang; Jeltsch, Florian; Wikelski, Martin; Nathan, Ran

    2016-07-01

    Migration conveys an immense challenge, especially for juvenile birds coping with enduring and risky journeys shortly after fledging. Accordingly, juveniles exhibit considerably lower survival rates compared to adults, particularly during migration. Juvenile white storks (Ciconia ciconia), which are known to rely on adults during their first fall migration presumably for navigational purposes, also display much lower annual survival than adults. Using detailed GPS and body acceleration data, we examined the patterns and potential causes of age-related differences in fall migration properties of white storks by comparing first-year juveniles and adults. We compared juvenile and adult parameters of movement, behaviour and energy expenditure (estimated from overall dynamic body acceleration) and placed this in the context of the juveniles' lower survival rate. Juveniles used flapping flight vs. soaring flight 23% more than adults and were estimated to expend 14% more energy during flight. Juveniles did not compensate for their higher flight costs by increased refuelling or resting during migration. When juveniles and adults migrated together in the same flock, the juvenile flew mostly behind the adult and was left behind when they separated. Juveniles showed greater improvement in flight efficiency throughout migration compared to adults which appears crucial because juveniles exhibiting higher flight costs suffered increased mortality. Our findings demonstrate the conflict between the juveniles' inferior flight skills and their urge to keep up with mixed adult-juvenile flocks. We suggest that increased flight costs are an important proximate cause of juvenile mortality in white storks and likely in other soaring migrants and that natural selection is operating on juvenile variation in flight efficiency.

  11. EphA4 signaling in juveniles establishes topographic specificity of structural plasticity in the hippocampus.

    Science.gov (United States)

    Galimberti, Ivan; Bednarek, Ewa; Donato, Flavio; Caroni, Pico

    2010-03-11

    The formation and loss of synapses is involved in learning and memory. Distinct subpopulations of permanent and plastic synapses coexist in the adult brain, but the principles and mechanisms underlying the establishment of these distinctions remain unclear. Here we show that in the hippocampus, terminal arborizations (TAs) with high plasticity properties are specified at juvenile stages, and account for most synapse turnover of adult mossy fibers. Out of 9-12 giant terminals along CA3, distinct subpopulations of granule neurons revealed by mouse reporter lines exhibit 0, 1, or >2 TAs. TA specification involves a topographic rule based on cell body position and EphA4 signaling. Upon disruption of EphA4 signaling or PSA-NCAM in juvenile circuits, single-TA mossy fibers establish >2 TAs, suggesting that intra-axonal competition influences plasticity site selection. Therefore, plastic synapse specification in juveniles defines sites of synaptic remodeling in the adult, and hippocampal circuit plasticity follows unexpected topographic principles.

  12. Repetitive mild traumatic brain injury induces ventriculomegaly and cortical thinning in juvenile rats.

    Science.gov (United States)

    Goddeyne, Corey; Nichols, Joshua; Wu, Chen; Anderson, Trent

    2015-05-01

    Traumatic brain injury (TBI) most frequently occurs in pediatric patients and remains a leading cause of childhood death and disability. Mild TBI (mTBI) accounts for nearly 75% of all TBI cases, yet its neuropathophysiology is still poorly understood. While even a single mTBI injury can lead to persistent deficits, repeat injuries increase the severity and duration of both acute symptoms and long-term deficits. In this study, to model pediatric repetitive mTBI (rmTBI) we subjected unrestrained juvenile animals (postnatal day 20) to repeat weight-drop impacts. Animals were anesthetized and subjected to sham injury or rmTBI once per day for 5 days. Magnetic resonance imaging (MRI) performed 14 days after injury revealed marked cortical atrophy and ventriculomegaly in rmTBI animals. Specifically, beneath the impact zone the thickness of the cortex was reduced by up to 46% and the area of the ventricles increased by up to 970%. Immunostaining with the neuron-specific marker NeuN revealed an overall loss of neurons within the motor cortex but no change in neuronal density. Examination of intrinsic and synaptic properties of layer II/III pyramidal neurons revealed no significant difference between sham-injured and rmTBI animals at rest or under convulsant challenge with the potassium channel blocker 4-aminopyridine. Overall, our findings indicate that the neuropathological changes reported after pediatric rmTBI can be effectively modeled by repeat weight drop in juvenile animals. Developing a better understanding of how rmTBI alters the pediatric brain may help improve patient care and direct "return to game" decision making in adolescents.

  13. Criminal Profiles of Violent Juvenile Sex and Violent Juvenile Non-Sex Offenders: An Explorative Longitudinal Study

    Science.gov (United States)

    van Wijk, Anton Ph.; Mali, Bas R. F.; Bullens, Ruud A. R.; Vermeiren, Robert R.

    2007-01-01

    Few studies have longitudinally investigated the criminal profiles of violent juvenile sex and violent juvenile non-sex offenders. To make up for this lack, this study used police records of juveniles to determine the nature of the criminal profiles of violent sex offenders (n = 226) and violent non-sex offenders (n = 4,130). All offenders…

  14. Juvenile Residential Facility Census, 2010: Selected Findings. Juvenile Offenders and Victims: National Report Series. Bulletin NCJ 241134

    Science.gov (United States)

    Hockenberry, Sarah; Sickmund, Melissa; Sladky, Anthony

    2013-01-01

    This bulletin is part of the "Juvenile Offenders and Victims National Report Series." The "National Report" offers a comprehensive statistical overview of the problems of juvenile crime, violence, and victimization and the response of the juvenile justice system. During each interim year, the bulletins in the "National…

  15. Juvenile penalty or leniency: Sentencing of juveniles in the criminal justice system.

    Science.gov (United States)

    Jordan, Kareem L; McNeal, Brittani A

    2016-08-01

    The purpose of this study is to examine the impact of being juvenile on sentencing in the criminal justice system. More specifically, youth transferred to criminal court are compared to adults in terms of likelihood of incarceration, jail length, and prison length. In this study, 2 national data sets are merged. The juvenile sample includes 3,381 convicted offenders, and the adult sample is comprised of 6,529 convicted offenders. The final sample is 9,910 offenders across 36 U.S. counties. The key independent variable is juvenile status, and the dependent variables are incarceration, jail length, and prison length. Because of the multilevel nature of the data, hierarchical linear modeling is used across all models. Juveniles are punished less severely in the jail incarceration decision. However, when youth are actually sentenced to incarceration (either jail or prison), they are given longer confinement time than adults. (PsycINFO Database Record

  16. Noise and Neuronal Heterogeneity

    CERN Document Server

    Barber, Michael J

    2010-01-01

    We consider signal transaction in a simple neuronal model featuring intrinsic noise. The presence of noise limits the precision of neural responses and impacts the quality of neural signal transduction. We assess the signal transduction quality in relation to the level of noise, and show it to be maximized by a non-zero level of noise, analogous to the stochastic resonance effect. The quality enhancement occurs for a finite range of stimuli to a single neuron; we show how to construct networks of neurons that extend the range. The range increases more rapidly with network size when we make use of heterogeneous populations of neurons with a variety of thresholds, rather than homogeneous populations of neurons all with the same threshold. The limited precision of neural responses thus can have a direct effect on the optimal network structure, with diverse functional properties of the constituent neurons supporting an economical information processing strategy that reduces the metabolic costs of handling a broad...

  17. Ethnic monitoring and social control: Descriptions from juveniles in juvenile care institutions

    OpenAIRE

    Basic, Goran

    2014-01-01

    Previous research has emphasized the institutional racism in total institutions. Researchers have highlighted the importance of narratives but have not focused on narratives about ethnic monitoring and social control. This article tries to fill this gap by analysing stories related to descriptions of ethnic monitoring and social control as told by juveniles of non-Swedish ethnicity in Swedish juvenile care institutions. A juvenile’s ethnicity was highlighted by drawing attention to the staff’...

  18. Neurons and tumor suppressors.

    Science.gov (United States)

    Zochodne, Douglas W

    2014-08-20

    Neurons choose growth pathways with half hearted reluctance, behavior that may be appropriate to maintain fixed long lasting connections but not to regenerate them. We now recognize that intrinsic brakes on regrowth are widely expressed in these hesitant neurons and include classical tumor suppressor molecules. Here, we review how two brakes, PTEN (phosphatase and tensin homolog deleted on chromosome 10) and retinoblastoma emerge as new and exciting knockdown targets to enhance neuron plasticity and improve outcome from damage or disease.

  19. Biological agents in polyarticular juvenile idiopathic arthritis

    DEFF Research Database (Denmark)

    Amarilyo, Gil; Tarp, Simon; Foeldvari, Ivan

    2016-01-01

    BACKGROUND AND OBJECTIVE: Although various biological agents are in use for polyarticular juvenile idiopathic arthritis (pJIA), head-to-head trials comparing the efficacy and safety among them are lacking. We aimed to compare the efficacy and safety of biological agents in pJIA using all currently...

  20. Mineral Oil Aspiration Related Juvenile Idiopathic Arthritis

    OpenAIRE

    Nelson, Andrew D.; Fischer, Philip R.; Reed, Ann M.; Wylam, Mark E.

    2015-01-01

    We describe the development of rheumatoid factor-positive migratory polyarthritis in a 5-year-old male who had been administered bidaily oral mineral oil as a laxative since birth. Minor respiratory symptoms, radiographic and bronchoscopic findings were consistent with chronic lipoid pneumonia. We speculate that immune sensitization to mineral oil promoted the clinical syndrome of juvenile idiopathic arthritis.

  1. Retrocalcaneal bursitis in juvenile chronic arthritis.

    OpenAIRE

    Goldenstein-Schainberg, C; Homsi, C; Rodrigues Pereira, R M; W. Cossermelli

    1992-01-01

    Retrocalcaneal bursitis has been described in various adult rheumatic diseases and septic bursitis unrelated to previous bursal disease has been reported in children. The case is reported here of a girl with juvenile chronic arthritis who developed non-septic retrocalcaneal bursitis; the diagnosis was suggested by a combination of clinical and radiographic studies and was confirmed by ultrasonography.

  2. Family Disruption and Delinquency. Juvenile Justice Bulletin.

    Science.gov (United States)

    Thornberry, Terence P.; Smith, Carolyn A.; Rivera, Craig; Huizinga, David; Stouthamer-Loeber, Magda

    At study sites in Rochester (New York), Denver (Colorado) and Pittsburgh (Pennsylvania), three research teams studying the impact of family disruption on juvenile delinquency have interviewed approximately 4,000 participants at regular intervals for a decade, recording their lives in detail. Findings to date indicate that preventing delinquency…

  3. Childhood ovarian juvenile granulosa cell tumour

    African Journals Online (AJOL)

    Prof Ezechukwu

    2012-05-12

    May 12, 2012 ... years old of age. We describe a case ... Juvenile granulosa cell tumour a subtype of ovarian stro- mal cell ... A more serious estrogen effects can occur in various end ... usually behave in a benign manner despite having histo-.

  4. Antineutrophil cytoplasmic antibodies in juvenile chronic arthritis

    NARCIS (Netherlands)

    Mulder, L; Horst, G; Limburg, P; deGraeffMeeder, ER; Kuis, W; Kallenberg, C

    1997-01-01

    Objective, To evaluate the diagnostic significance of antineutrophil cytoplasmic antibodies (ANCA) by assessing the prevalence of ANCA in juvenile chronic arthritis (JCA) (n = 93) of either oligoarticular, polyarticular, or systemic onset. To investigate the prevalence of ANCA in other diseases of c

  5. Biologisk terapi ved juvenil idiopatisk artritis

    DEFF Research Database (Denmark)

    Herlin, Troels

    2008-01-01

    In recent years the treatment of juvenile idiopathic arthritis (JIA) has undergone marked changes. There is substantial evidence that inhibitors of tumor necrosis factor alpha (TNFalpha) like etanercept, infliximab and adalimumab show significant efficacy when standard therapy fails, and long-ter...

  6. Smerte og smertemestring ved juvenil idiopatisk artritis

    DEFF Research Database (Denmark)

    Herlin, Troels; Thastum, Mikael

    2008-01-01

    Pain is one of the primary symptoms of juvenile idiopathic arthritis (JIA). JIA patients have reduced pain tolerance and pain threshold compared to healthy controls. In children with JIA the greater use of coping strategies such as problem-solving, positive self-statements and distraction consist...

  7. Increasing Incidence of Juvenile Thyrotoxicosis in Denmark

    DEFF Research Database (Denmark)

    Kjær, R. H.; Andersen, M. S.; Hansen, D.

    2015-01-01

    . Additional data were collected on children diagnosed with GD in 2008-2012. Results: In total, 237 patients with juvenile thyrotoxicosis (JT) were identified. The overall IR in 1998-2012 was 1.58/100,000 person-years and has increased significantly from 0.79/100,000 person-years in 1982-1988 (p

  8. Predictors of juveniles' noncompliance with probation requirements.

    Science.gov (United States)

    NeMoyer, Amanda; Goldstein, Naomi E S; McKitten, Rhonda L; Prelic, Ana; Ebbecke, Jenna; Foster, Erika; Burkard, Casey

    2014-12-01

    Probation is the most common disposition for adjudicated youth, but little is known about which specific requirements are commonly imposed on juveniles, the requirements with which juveniles most often fail to comply, and how certain youth characteristics and/or imposed requirements might relate to probation noncompliance. An investigation of 120 archived files of youth represented by an urban public defender's office identified 29 probation requirements imposed on youth and 18 requirements with which youth commonly failed to comply. Results revealed that 52% of youth failed to comply with at least one probation requirement; prior probation noncompliance and race were both significantly associated with noncompliance in the examined probation disposition. In addition, the probability of probation noncompliance was significantly higher when youth received either of two substance-related probation requirements: drug tests or drug and alcohol counseling. Such results may prompt further investigation of juvenile probation-related predictors, identify areas of need for clinical service provision to foster successful completion of probation requirements, and help identify areas of potential biases among juvenile court personnel.

  9. Retrocalcaneal bursitis in juvenile chronic arthritis.

    Science.gov (United States)

    Goldenstein-Schainberg, C; Homsi, C; Rodrigues Pereira, R M; Cossermelli, W

    1992-01-01

    Retrocalcaneal bursitis has been described in various adult rheumatic diseases and septic bursitis unrelated to previous bursal disease has been reported in children. The case is reported here of a girl with juvenile chronic arthritis who developed non-septic retrocalcaneal bursitis; the diagnosis was suggested by a combination of clinical and radiographic studies and was confirmed by ultrasonography. Images PMID:1444631

  10. The human microbiome and juvenile idiopathic arthritis

    NARCIS (Netherlands)

    Verwoerd, Anouk; ter Haar, Nienke M.; de Roock, Sytze; Vastert, Sebastiaan J.; Bogaert, Debby

    2016-01-01

    Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in childhood. The pathogenesis of JIA is thought to be the result of a combination of host genetic and environmental triggers. However, the precise factors that determine one's susceptibility to JIA remain to be unravelled. The

  11. Alteracioness cognitivas en familias con Parkinson juvenil

    Directory of Open Access Journals (Sweden)

    Francisco Javier Lopera Restrepo

    2005-03-01

    Full Text Available El Grupo de Neurociencias de la Universidad de Antioquia reportó por primera vez en Colombia cuatro familias afecatas por la Enfermedad de Parkinson Familiar Juvenil portadoras de la mutación G736A en el gen Parkin.

  12. Metamorphosis: How Missouri Rehabilitates Juvenile Offenders

    Science.gov (United States)

    Dubin, Jennifer

    2012-01-01

    Juveniles convicted of serious offenses usually end up in large correctional facilities that focus on punishment--not rehabilitation. The state of Missouri, however, has found a better way to help end the cycle of crime: by creating a network of small facilities that provide therapy and educational opportunities, it has dramatically reduced…

  13. The human microbiome and juvenile idiopathic arthritis

    NARCIS (Netherlands)

    Verwoerd, Anouk; ter Haar, Nienke M.; de Roock, Sytze; Vastert, Sebastiaan J.; Bogaert, Debby

    2016-01-01

    Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in childhood. The pathogenesis of JIA is thought to be the result of a combination of host genetic and environmental triggers. However, the precise factors that determine one's susceptibility to JIA remain to be unravelled. The

  14. Autoimmune hepatitis and juvenile systemic lupus erythematosus

    NARCIS (Netherlands)

    Deen, M. E. J.; Porta, G.; Fiorot, F. J.; Campos, L. M. A.; Sallum, A. M. E.; Silva, C. A. A.

    2009-01-01

    Juvenile systemic lupus erythematosus (JSLE) and autoimmune hepatitis (AIH) are both autoimmune disorders that are rare in children and have a widespread clinical manifestation. A few case reports have shown a JSLE-AIH associated disorder. To our knowledge, this is the first study that simultaneousl

  15. JUVENILE RHEUMATOID ARTHRITIS (TERMINOLOGICALAND CLASSIFICATION ASPECTS

    Directory of Open Access Journals (Sweden)

    N N Kuzmina

    2000-01-01

    Full Text Available Basing on the data of home and foreign literature and on the long-term experience of pediatric rheumatologists, terminologic and classification aspects of Juvenile rheumatoid arthritis (JRA are presented. Approaches to developing of diagnostic and classification of JRA criteria in future are described.

  16. Evaluating juvenile detainees' Miranda misconceptions: The discriminant validity of the Juvenile Miranda Quiz.

    Science.gov (United States)

    Sharf, Allyson J; Rogers, Richard; Williams, Margot M; Drogin, Eric Y

    2017-05-01

    Most juvenile arrestees in custodial settings waive their Miranda rights almost immediately, and many then provide incriminating statements, if not outright confessions. Forensic practitioners are then asked to provide retrospective determinations regarding whether these waivers were effectuated knowingly, voluntarily, and intelligently. At present, the forensic assessment instrument for juvenile Miranda issues consists of the Miranda Rights Comprehension Instruments (MRCI)-which as its name implies-focuses mostly on Miranda comprehension with a de-emphasis of Miranda reasoning. In partially addressing this gap, the current study investigated the clinical utility of the Juvenile Miranda Quiz (JMQ) for evaluating key Miranda misconceptions, a critically important component of Miranda reasoning. Using data from 201 juvenile detainees, we evaluated the JMQ's discriminability with regards to cognitive variables and MRCI scales. Many moderate effect sizes in the predicted direction were found for the JMQ Primary Total and Juvenile Total scores. Finally, these detainees were tested using a mock crime scenario with a representative Miranda warning plus a brief interrogation to evaluate whether they would waive their rights, and if so, whether they would confess. Using Miranda measures to predict problematic outcomes (i.e., impaired waivers followed by confessions), the JMQ Juvenile Total proved the most successful. These findings are discussed within the context of the "intelligent" prong of Miranda waivers. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  17. Juvenile myoclonic epilepsy: A system disorder of the brain.

    Science.gov (United States)

    Wolf, Peter; Yacubian, Elza Márcia Targas; Avanzini, Giuliano; Sander, Thomas; Schmitz, Bettina; Wandschneider, Britta; Koepp, Matthias

    2015-08-01

    The prevailing understanding of generalized epilepsy is shaped by the traditional definition that "the responsible neuronal discharge takes place, if not throughout the entire grey matter, then at least in the greater part of it and simultaneously on both sides". This view is no longer tenable since concurrent findings using multiple methods have accumulated to reveal the role of bilateral networks of distributed and selective cortical and subcortical structures in so-called generalized ictogenesis. Most of this research has been focused on juvenile myoclonic epilepsy (JME), which today is commonly considered the archetypical syndrome of the idiopathic generalized epilepsies. Based upon recent research in the fields of clinical epileptology, neuropsychology and psychiatry, clinical neurophysiology, neuroimaging and epilepsy genetics this article, for the first time, unites these new findings into a comprehensive nosological view. Genetically determined dysfunctions of important cognitive systems like visuomotor coordination and linguistic communication appear now as key mechanisms of seizure generation in JME. This review suggests a new paradigm to consider JME as a system disorder of the brain analogous to other neurological system disorders.

  18. Musculoskeletal MRI findings of juvenile localized scleroderma

    Energy Technology Data Exchange (ETDEWEB)

    Eutsler, Eric P. [Nemours Children' s Health System/Alfred I. duPont Hospital for Children, Wilmington, DE (United States); Washington University School of Medicine, Mallinckrodt Institute of Radiology, St. Louis, MO (United States); Horton, Daniel B. [Nemours Children' s Health System/Alfred I. duPont Hospital for Children, Division of Rheumatology, Department of Pediatrics, Wilmington, DE (United States); Rutgers Robert Wood Johnson Medical School, Department of Pediatrics, New Brunswick, NJ (United States); Epelman, Monica [Nemours Children' s Health System/Nemours Children' s Hospital, Department of Medical Imaging, Orlando, FL (United States); Finkel, Terri [Nemours Children' s Health System/Nemours Children' s Hospital, Department of Pediatrics, Orlando, FL (United States); Averill, Lauren W. [Nemours Children' s Health System/Alfred I. duPont Hospital for Children, Wilmington, DE (United States)

    2017-04-15

    Juvenile localized scleroderma comprises a group of autoimmune conditions often characterized clinically by an area of skin hardening. In addition to superficial changes in the skin and subcutaneous tissues, juvenile localized scleroderma may involve the deep soft tissues, bones and joints, possibly resulting in functional impairment and pain in addition to cosmetic changes. There is literature documenting the spectrum of findings for deep involvement of localized scleroderma (fascia, muscles, tendons, bones and joints) in adults, but there is limited literature for the condition in children. We aimed to document the spectrum of musculoskeletal magnetic resonance imaging (MRI) findings of both superficial and deep juvenile localized scleroderma involvement in children and to evaluate the utility of various MRI sequences for detecting those findings. Two radiologists retrospectively evaluated 20 MRI studies of the extremities in 14 children with juvenile localized scleroderma. Each imaging sequence was also given a subjective score of 0 (not useful), 1 (somewhat useful) or 2 (most useful for detecting the findings). Deep tissue involvement was detected in 65% of the imaged extremities. Fascial thickening and enhancement were seen in 50% of imaged extremities. Axial T1, axial T1 fat-suppressed (FS) contrast-enhanced and axial fluid-sensitive sequences were rated most useful. Fascial thickening and enhancement were the most commonly encountered deep tissue findings in extremity MRIs of children with juvenile localized scleroderma. Because abnormalities of the skin, subcutaneous tissues and fascia tend to run longitudinally in an affected limb, axial T1, axial fluid-sensitive and axial T1-FS contrast-enhanced sequences should be included in the imaging protocol. (orig.)

  19. Pacemaking Kisspeptin Neurons

    Science.gov (United States)

    Kelly, Martin J.; Zhang, Chunguang; Qiu, Jian; Rønnekleiv, Oline K.

    2013-01-01

    Kisspeptin (Kiss1) neurons are vital for reproduction. GnRH neurons express the kisspeptin receptor, GPR 54, and kisspeptins potently stimulate the release of GnRH by depolarising and inducing sustained action potential firing in GnRH neurons. As such Kiss1 neurons may be the pre-synaptic pacemaker neurons in the hypothalamic circuitry that controls reproduction. There are at least two different populations of Kiss1 neurons: one in the rostral periventricular area (RP3V) that is stimulated by oestrogens and the other in the arcuate nucleus that is inhibited by oestrogens. How each of these Kiss1 neuronal populations participate in the regulation of the reproductive cycle is currently under intense investigation. Based on electrophysiological studies in the guinea pig and mouse, Kiss1 neurons in general are capable of generating burst firing behavior. Essentially all Kiss1 neurons, which have been studied thus far in the arcuate nucleus, express the ion channels necessary for burst firing, which include hyperpolarization-activated, cyclic nucleotide gated cation (HCN) channels and the T-type calcium (Cav3.1) channels. Under voltage clamp conditions, these channels produce distinct currents that under current clamp conditions can generate burst firing behavior. The future challenge is to identify other key channels and synaptic inputs involved in the regulation of the firing properties of Kiss1 neurons and the physiological regulation of the expression of these channels and receptors by oestrogens and other hormones. The ultimate goal is to understand how Kiss1 neurons control the different phases of GnRH neurosecretion and hence reproduction. PMID:23884368

  20. Corticospinal mirror neurons.

    Science.gov (United States)

    Kraskov, A; Philipp, R; Waldert, S; Vigneswaran, G; Quallo, M M; Lemon, R N

    2014-01-01

    Here, we report the properties of neurons with mirror-like characteristics that were identified as pyramidal tract neurons (PTNs) and recorded in the ventral premotor cortex (area F5) and primary motor cortex (M1) of three macaque monkeys. We analysed the neurons' discharge while the monkeys performed active grasp of either food or an object, and also while they observed an experimenter carrying out a similar range of grasps. A considerable proportion of tested PTNs showed clear mirror-like properties (52% F5 and 58% M1). Some PTNs exhibited 'classical' mirror neuron properties, increasing activity for both execution and observation, while others decreased their discharge during observation ('suppression mirror-neurons'). These experiments not only demonstrate the existence of PTNs as mirror neurons in M1, but also reveal some interesting differences between M1 and F5 mirror PTNs. Although observation-related changes in the discharge of PTNs must reach the spinal cord and will include some direct projections to motoneurons supplying grasping muscles, there was no EMG activity in these muscles during action observation. We suggest that the mirror neuron system is involved in the withholding of unwanted movement during action observation. Mirror neurons are differentially recruited in the behaviour that switches rapidly between making your own movements and observing those of others.

  1. Culturing rat hippocampal neurons.

    Science.gov (United States)

    Audesirk, G; Audesirk, T; Ferguson, C

    2001-01-01

    Cultured neurons are widely used to investigate the mechanisms of neurotoxicity. Embryonic rat hippocampal neurons may be grown as described under a wide variety of conditions to suit differing experimental procedures, including electrophysiology, morphological analysis of neurite development, and various biochemical and molecular analyses.

  2. Orofacial pain, jaw function, and temporomandibular disorders in adult women with a history of juvenile chronic arthritis or persistent juvenile chronic arthritis

    DEFF Research Database (Denmark)

    Bakke, M.; Zak, M.; Jensen, B.L.;

    2001-01-01

    Orofacial pain, jaw function, temporomandibular disorders, adult women persistent juvenil chronic arthritis......Orofacial pain, jaw function, temporomandibular disorders, adult women persistent juvenil chronic arthritis...

  3. Imaging calcium in neurons.

    Science.gov (United States)

    Grienberger, Christine; Konnerth, Arthur

    2012-03-08

    Calcium ions generate versatile intracellular signals that control key functions in all types of neurons. Imaging calcium in neurons is particularly important because calcium signals exert their highly specific functions in well-defined cellular subcompartments. In this Primer, we briefly review the general mechanisms of neuronal calcium signaling. We then introduce the calcium imaging devices, including confocal and two-photon microscopy as well as miniaturized devices that are used in freely moving animals. We provide an overview of the classical chemical fluorescent calcium indicators and of the protein-based genetically encoded calcium indicators. Using application examples, we introduce new developments in the field, such as calcium imaging in awake, behaving animals and the use of calcium imaging for mapping single spine sensory inputs in cortical neurons in vivo. We conclude by providing an outlook on the prospects of calcium imaging for the analysis of neuronal signaling and plasticity in various animal models.

  4. NEURON and Python

    Directory of Open Access Journals (Sweden)

    Michael Hines

    2009-01-01

    Full Text Available The NEURON simulation program now allows Python to be used, alone or in combination with NEURON's traditional Hoc interpreter. Adding Python to NEURON has the immediate benefit of making available a very extensive suite of analysis tools written for engineering and science. It also catalyzes NEURON software development by offering users a modern programming tool that is recognized for its flexibility and power to create and maintain complex programs. At the same time, nothing is lost because all existing models written in Hoc, including GUI tools, continue to work without change and are also available within the Python context. An example of the benefits of Python availability is the use of the XML module in implementing NEURON's Import3D and CellBuild tools to read MorphML and NeuroML model specifications.

  5. NEURON and Python.

    Science.gov (United States)

    Hines, Michael L; Davison, Andrew P; Muller, Eilif

    2009-01-01

    The NEURON simulation program now allows Python to be used, alone or in combination with NEURON's traditional Hoc interpreter. Adding Python to NEURON has the immediate benefit of making available a very extensive suite of analysis tools written for engineering and science. It also catalyzes NEURON software development by offering users a modern programming tool that is recognized for its flexibility and power to create and maintain complex programs. At the same time, nothing is lost because all existing models written in Hoc, including graphical user interface tools, continue to work without change and are also available within the Python context. An example of the benefits of Python availability is the use of the xml module in implementing NEURON's Import3D and CellBuild tools to read MorphML and NeuroML model specifications.

  6. Acupuntura em adolescentes com fibromialgia juvenil Acupuntura en adolescentes con fibromialgia juvenil Acupuncture in adolescents with juvenile fibromyalgia

    Directory of Open Access Journals (Sweden)

    Marialda Höfling P. Dias

    2012-01-01

    Full Text Available OBJETIVO: Descrever a utilização da acupuntura em adolescentes com fibromialgia juvenil. MÉTODOS: Estudo retrospectivo realizado em pacientes com fibromialgia juvenil (critérios do Colégio Americano de Reumatologia submetidos a, pelo menos, 11 sessões semanais de acupuntura. As avaliações antes e após acupuntura incluíram dados demográficos, características da dor musculoesquelética, número de pontos dolorosos (NPD, escala visual analógica (EVA de dor, algiometria e índice miálgico (IM. Durante o estudo, os pacientes puderam usar analgésicos, amitriptilina e foram orientados a praticar atividade física aeróbica. Os resultados antes e após acupuntura foram comparados pelo teste não paramétrico de Wilcoxon. RESULTADOS: Dos 38 pacientes com fibromialgia juvenil acompanhados em oito anos consecutivos, 13 tinham todas as informações nos prontuários e nas fichas de acupuntura e foram avaliados. Destes 13, sete obtiveram melhora nos três parâmetros analisados (número de pontos dolorosos, EVA de dor e IM. As medianas do número de pontos dolorosos e da EVA de dor foram significativamente maiores antes do tratamento quando comparados ao final do tratamento com as sessões de acupuntura [14 (11-18 versus 10 (0-15, p=0,005; 6 (2-10 versus 3 (0-10, p=0,045; respectivamente]. Em contraste, a mediana do IM foi significativamente menor antes do tratamento [3,4 (2,49-4,39 versus 4,2 (2,71-5,99, p=0,02]. Nenhum dos pacientes com fibromialgia juvenil apresentou eventos adversos associados à acupuntura. CONCLUSÕES: Acupuntura é uma modalidade de Medicina Tradicional Chinesa que pode ser utilizada nos pacientes pediátricos com fibromialgia. Futuros estudos controlados serão necessários.OBJETIVO: Describir el uso de acupuntura en adolescentes con fibromialgia juvenil. MÉTODOS: Estudio retrospectivo realizado en pacientes con fibromialgia juvenil (criterios del Colegio Americano de Reumatología sometidos a al menos 11 sesiones

  7. The impact of schools on juvenile substance initiation and use.

    Science.gov (United States)

    Amuedo-Dorantes, Catalina; Mach, Traci; Clapp, John D

    2004-06-01

    We use data from the two rounds of the NLSY97 and the corresponding QED data to examine the effectiveness of school endowments and curricula in targeting juvenile use of tobacco, alcohol, and marijuana. Our results support the notion that schools matter in reducing juvenile involvement in substance use. Higher discretionary dollars per pupil are linked to reduced rates of juvenile initiation and repetitive use rates of cigarettes and marijuana. Additionally, school curricula, as indicated by the implementation of year round classes and some innovative and after-school programs--such as gifted and talented, attendance monitoring, homework hotline, international baccalaureate, extended-day, and mentoring, programs, affect both juvenile initiation to tobacco and alcohol use and juvenile repetitive use of tobacco and alcohol. In particular, we find that juvenile initiation to cigarette use is approximately between 2 percentage points and 3 percentage points lower among youths attending schools with gifted and talented and international baccalaureate programs. In addition, juvenile repetitive cigarette use is approximately 54%, 52%, and 48% lower among youths attending schools offering year round classes, international baccalaureate, and twenty-first century programs, respectively. Finally, juvenile initiation to alcohol use and juvenile repetitive use of alcohol are approximately 3% and 20% lower, respectively, among youths in schools offering gifted and talented programs. In sum, while these programs are not implemented to address substance use problems among the student body, we find that the implementation of these programs is often accompanied by a reduction in juvenile initiation and repetitive substance use.

  8. THE JUVENILE JUSTICE SYSTEM IN SPAIN

    Directory of Open Access Journals (Sweden)

    JosA Luis de la Cuesta

    2009-10-01

    Full Text Available 1. Relevant legal framework regulating criminal proceedings against juvenile offenders. 2. Age thresholds of criminal responsibility and liability to prosecution. 3. Specialized agencies. 3.1. Judges specialization. 3.2. Prosecutor\\'s specialization. 3.3. Specialization required for any, other figure acting in the proceedings. 3.4. Social services (or similar agencies involved in the proceedings. 4. Early definition of the proceedings. 5. Personality assessment procedures. 6. Mediation. 7. Personal liberty. 8. Safeguards for the protection of minors. 8.1. Affective and/or psychological assistance. 8.2. Preventing the disclosure of the juvenile offender\\'s identity. 8.3. Other measures. 9. Final remarks.

  9. Estudo anátomo-funcional por ressonância magnética em pacientes com epilepsia mioclônica juvenil

    OpenAIRE

    Lin, Katia

    2009-01-01

    Purpose: The neuroanatomical basis and the neurochemical abnormalities that underlie juvenile myoclonic epilepsy (JME) are not fully understood. While the thalamus plays a central role in synchronization of widespread regions of the cerebral cortex during a seizure, emerging evidence suggests that all cortical neurons may not be homogeneously involved. The purpose of this study was to investigate the cerebral metabolic and structural differences between JME patients and normal controls. Metho...

  10. Juvenile rheumatoid arthritis and lymphoedema: lymphangiographic aspects

    Energy Technology Data Exchange (ETDEWEB)

    Schmit, P.; Brunelle, F. [Service de Radiopediatrie, Groupe Hospitalier Necker-Enfants-Malades, Paris (France); Prieur, A.M. [Unite Fonctionnelle de Rhumatologie Infantile, Groupe Hospitalier Necker-Enfants-Malades, Paris (France)

    1999-05-01

    We report a 5{sup 1}/{sub 2}-year-old boy with juvenile rheumatoid arthritis (JRA) and lower-limb lymphoedema. US, MRI and lymphangiography were performed. Based on the lymphangiographic study, we propose a pathogenesis based on obstruction of normal superficial lymphatic vessels in the affected limb. This is discussed with other pathogenetic factors proposed in the 16 previously reported cases of lymphoedema complicating JRA. (orig.) With 3 figs., 5 refs.

  11. El rock como conformador de identidades juveniles

    Directory of Open Access Journals (Sweden)

    Adrián de Garay

    1996-04-01

    Full Text Available El autor analiza la relación entre el rock y las identidades juveniles, a partir del abordaje de cinco “estilos” que se pueden identificar como constitutivos de éstas identidades. Ellos son: la jerga, la estética, las producciones culturales, los no-lugares y el territorio. Finaliza el artículo señalando algunos hitos importantes de la culturarockera en la ciudad de México.

  12. Juvenile myoclonic epilepsy: clinical and EEG features

    DEFF Research Database (Denmark)

    Pedersen, S B; Petersen, K A

    1998-01-01

    We aimed to characterize the clinical profile and EEG features of 43 patients with juvenile myoclonic epilepsy. In a retrospective design we studied the records of, and re-interviewed, 43 patients diagnosed with JME from the epilepsy clinic data base. Furthermore, available EEGs were re-evaluated...... were sleep deprivation (84%), stress (70%), and alcohol consumption (51%). EEG findings included rapid spike-wave and polyspike-wave....

  13. De las bandas a las culturas juveniles

    Directory of Open Access Journals (Sweden)

    Carles Feixa

    1994-01-01

    Full Text Available This article is an exposition about the processes of elaboration oftheoretical concepts and methodological schemes of five ofthe princi-pal theoretical methodological paradigms thatstudygangsand juveni-le cultures in western contemporary societies. These processes oftheoretical methodological elaboration are derived from the resul-ting empirical data based on participatory observation, analysis andrellection about the conducts displayedby theadolescents as membersof a larger society.

  14. Juvenile ossifying fibroma: CT and MR findings

    Energy Technology Data Exchange (ETDEWEB)

    Khoury, Nabil J.; Naffaa, Lena N.; Haddad, Maurice C. [Department of Diagnostic Radiology, American University of Beirut Medical Center, P.O. Box 113-6044, Beirut (Lebanon); Shabb, Nina S. [Department of Pathology, American University of Beirut - Medical Center, P.O. Box 113-6044, Beirut (Lebanon)

    2002-07-01

    We describe the CT findings in four patients and the MR imaging in one patient with juvenile ossifying fibroma. Three lesions involved the maxillary sinus and extended to the surrounding structures; one lesion was confined to the maxillary bone. CT scan revealed well-defined, expansile lesions with variable amount of calcifications. On MRI one lesion had intermediate signal intensity with significant contrast enhancement. (orig.)

  15. Solitary ulcerated congenital giant juvenile xanthogranuloma

    Directory of Open Access Journals (Sweden)

    Su Yuen Ng

    2015-01-01

    Full Text Available A 3-month-old female patient with a giant ulcerated nodule over the back since birth was diagnosed as congenital giant juvenile xanthogranuloma (JXG based on clinical and histopathological examination. Congenital giant JXG with ulceration at birth is a rare presentation of JXG and commonly misdiagnosed. This case emphasizes the importance of being aware of the myriad presentations of JXG in order to make a correct diagnosis and avoid unnecessary investigations or treatment.

  16. Do Juvenile Curfew Laws Reduce Underage Drinking?

    Science.gov (United States)

    Grossman, Elyse R.; Jernigan, David H.; Miller, Nancy A.

    2016-01-01

    Objective: Although not originally enacted to deter the problem of underage drinking in the United States, one set of laws that may influence this behavior is juvenile curfew laws. This research asked the following: (a) What is the effect of enacting a juvenile curfew law on youth drinking, and (b) do demographic variables moderate the relation between juvenile curfew law enactment and drinking? This study examined the effect of juvenile curfew laws on underage drinking, using data from 46 U.S. cities from 1991 to 2005. Method: In 2014, we compiled a data set containing alcohol and curfew law data by zip code. It included 63,081 minors (ages 12–17 years) from 1,081 zip codes. We used difference-in-difference regressions to analyze the data. Results: The effect of the enactment of a curfew law on the likelihood of consuming alcohol in the past year or past 30 days or of heavy episodic drinking in the past 2 weeks was not significant when compared with cities without curfew laws during the same periods. Although the likelihood of consuming alcohol over the past year differed depending on an individual’s characteristics (e.g., race/ethnicity, age, and gender), none of the interaction terms between these characteristics and curfew laws were significant. Conclusions: Curfew laws appear to have a non-significant effect on youth drinking, but these results are unclear without more knowledge as to where and when youth are drinking both before and after the enactment of curfew laws and how these laws are being enforced. PMID:27340963

  17. Adverse early life environment increases hippocampal microglia abundance in conjunction with decreased neural stem cells in juvenile mice.

    Science.gov (United States)

    Cohen, Susan; Ke, Xingrao; Liu, Qiuli; Fu, Qi; Majnik, Amber; Lane, Robert

    2016-12-01

    Adverse maternal lifestyle resulting in adverse early life environment (AELE) increases risks for neuropsychiatric disorders in offspring. Neuropsychiatric disorders are associated with impaired neurogenesis and neuro-inflammation in the hippocampus (HP). Microglia are neuro-inflammatory cells in the brain that regulate neurogenesis via toll-like receptors (TLR). TLR-9 is implicated in neurogenesis inhibition and is responsible for stress-related inflammatory responses. We hypothesized that AELE would increase microglia cell count and increase TLR-9 expression in juvenile mouse HP. These increases in microglia cell count and TLR-9 expression would be associated with decrease neural stem cell count and neuronal cell count. We developed a mouse model of AELE combining Western diet and a stress environment. Stress environment consisted of random change from embryonic day 13 (E13) to E17 as well as static change in maternal environment from E13 to postnatal day 21(P21). At P21, we measured hippocampal cell numbers of microglia, neural stem cell and neuron, as well as hippocampal TLR-9 expression. AELE significantly increased total microglia number and TLR-9 expression in the hippocampus. Concurrently, AELE significantly decreased neural stem cell and neuronal numbers. AELE increased the neuro-inflammatory cellular response in the juvenile HP. We speculate that increased neuro-inflammatory responses may contribute to impaired neurogenesis seen in this model. Copyright © 2016 ISDN. Published by Elsevier Ltd. All rights reserved.

  18. Clinical presentation of juvenile Huntington disease

    Directory of Open Access Journals (Sweden)

    Ruocco Heloísa H.

    2006-01-01

    Full Text Available OBJECTIVE: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD: All patients were interviewed following a structured clinical questioner. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG repeat in the Huntington Disease gene. High resolution brain MRI was performed in all patients. RESULTS: We identified 4 patients with juvenile onset of disease among 50 patients with Huntington disease followed prospectively in our Neurogenetics clinic. Age at onset varied from 3 to 13 years, there were 2 boys, and 3 patients had a paternal inheritance of the disease. Expanded Huntington disease allele sizes varied from 41 to 69 trinucleotide repeats. The early onset patients presented with rigidity, bradykinesia, dystonia, dysarthria, seizures and ataxia. MRI showed severe volume loss of caudate and putamen nuclei (p=0.001 and reduced cerebral and cerebellum volumes (p=0.01. CONCLUSION: 8% of Huntington disease patients seen in our clinic had juvenile onset of the disease. They did not present with typical chorea as seen in adult onset Huntington disease. There was a predominance of rigidity and bradykinesia. Two other important clinical features were seizures and ataxia, which related with the imaging findings of early cortical atrophy and cerebellum volume loss.

  19. JUVENILE IDIOPATHIC ARTHRITIS – A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Paresh H

    2012-11-01

    Full Text Available ABSTRACT: The prevalence of Juvenile idiopathic arthritis (JIA is 0.86 per 1000 children. Subcutaneous nodules have been reported in 5% to 10% of children with JIA. Approximately 90% of patients with RA and subc utaneous nodules test positive for rheumatoid factor (RF, and approximately 40% o f all RF-seropositive patients with RA have subcutaneous nodules, whereas only 6% in volvement is seen in seronegative cases. We hereby report a case of atypical Juvenile idiopathic arthritis (JIA in a 6 year old, female child with joint pain & myalgia along with subcutaneous nodules over the dorsum of feet, hands and elbows. Joint pain initial ly involving the left ankle, slowly progressed to involve the knee, shoulder, wrist, metacar pophalangeal and interphalangeal joints over a period of one year. Joint involvement was not symmetric. RF was Negative. Fundoscopy examination was normal. Histopathological examinat ion revealed a central zone of Fibrinoid necrosis surrounded by epithelioid h istiocytes and occasional lymphocytes. Differential diagnosis of Rheumatoid Nodule (R N or Subcutaneous Granuloma Annulare (SGA or Necrobiosis Lipoidica Diabeticorum was made. In light of clinicopathological findings, both SGA and NLD were ruled out a nd the diagnosis of Juvenile idiopathic arthritis presenting as RF-negative polyarthritis was made.

  20. Habitat selection by juvenile Mojave Desert tortoises

    Science.gov (United States)

    Todd, Brian D; Halstead, Brian J.; Chiquoine, Lindsay P.; Peaden, J. Mark; Buhlmann, Kurt A.; Tuberville, Tracey D.; Nafus, Melia G.

    2016-01-01

    Growing pressure to develop public lands for renewable energy production places several protected species at increased risk of habitat loss. One example is the Mojave desert tortoise (Gopherus agassizii), a species often at the center of conflicts over public land development. For this species and others on public lands, a better understanding of their habitat needs can help minimize negative impacts and facilitate protection or restoration of habitat. We used radio-telemetry to track 46 neonate and juvenile tortoises in the Eastern Mojave Desert, California, USA, to quantify habitat at tortoise locations and paired random points to assess habitat selection. Tortoise locations near burrows were more likely to be under canopy cover and had greater coverage of perennial plants (especially creosote [Larrea tridentata]), more coverage by washes, a greater number of small-mammal burrows, and fewer white bursage (Ambrosia dumosa) than random points. Active tortoise locations away from burrows were closer to washes and perennial plants than were random points. Our results can help planners locate juvenile tortoises and avoid impacts to habitat critical for this life stage. Additionally, our results provide targets for habitat protection and restoration and suggest that diverse and abundant small-mammal populations and the availability of creosote bush are vital for juvenile desert tortoises in the Eastern Mojave Desert.

  1. Single neuron computation

    CERN Document Server

    McKenna, Thomas M; Zornetzer, Steven F

    1992-01-01

    This book contains twenty-two original contributions that provide a comprehensive overview of computational approaches to understanding a single neuron structure. The focus on cellular-level processes is twofold. From a computational neuroscience perspective, a thorough understanding of the information processing performed by single neurons leads to an understanding of circuit- and systems-level activity. From the standpoint of artificial neural networks (ANNs), a single real neuron is as complex an operational unit as an entire ANN, and formalizing the complex computations performed by real n

  2. Mesmerising mirror neurons.

    Science.gov (United States)

    Heyes, Cecilia

    2010-06-01

    Mirror neurons have been hailed as the key to understanding social cognition. I argue that three currents of thought-relating to evolution, atomism and telepathy-have magnified the perceived importance of mirror neurons. When they are understood to be a product of associative learning, rather than an adaptation for social cognition, mirror neurons are no longer mesmerising, but they continue to raise important questions about both the psychology of science and the neural bases of social cognition. Copyright 2010 Elsevier Inc. All rights reserved.

  3. Criminal profiles of violent juvenile sex and violent juvenile non sex offenders: an explorative longitudinal study.

    Science.gov (United States)

    van Wijk, Anton Ph; Mali, Bas R F; Bullens, Ruud A R; Vermeiren, Robert R

    2007-10-01

    Few studies have longitudinally investigated the criminal profiles of violent juvenile sex and violent juvenile non-sex offenders. To make up for this lack, this study used police records of juveniles to determine the nature of the criminal profiles of violent sex offenders (n = 226) and violent non-sex offenders (n = 4,130). All offenders committed their first offense in 1996 and were followed for 7 years. Results showed that violent sex offenders and violent non-sex offenders cannot be considered a homogeneous group because of different background characteristics and criminal profiles. Sex and violent offenses often constitute a small part of a broader criminal pattern. Further research is necessary to reveal in more detail the developmental and criminological patterns of violent and sexual delinquency. Treatment and intervention programs may benefit from this.

  4. Age-dependent variations in potassium sensitivity of A-currents in rat hippocampal neurons.

    Science.gov (United States)

    Klee, R; Eder, C; Ficker, E; Heinemann, U

    1997-09-01

    Hippocampal pyramidal neurons were either cultured from prenatal rats or acutely isolated from the brain of newborn and juvenile rats. The influence of lowering the concentration of the extracellular potassium concentration ([K+]o) on isolated fast transient outward K+ currents (I(A)) was studied in these neurons using the patch clamp technique in the whole cell configuration. With respect to the response of I(A) to lowering [K+]o, three types of cells were observed. The first subpopulation of neurons was characterized by a complete suppression of I(A) over the whole voltage range under potassium-free solutions (type A neurons). A second proportion of cells showed an increase of I(A) at test pulses below -0 mV and a decrease of I(A) at voltages above -0 mV (type B neurons). In a third group of neurons, amplitudes of I(A) increased at all potentials tested during omission of potassium ions from the extracellular superfusate (type C neurons). Whereas type A and type B neurons were preferentially found in freshly plated cultures and newborn rats, the majority of type C cells was detected in long-term cultures and in animals of older ages. Thus, hippocampal A-currents lose their sensitivity to extracellular potassium ions during early ontogenesis.

  5. Protection of juveniles: Victims of abuse and neglect in Serbia

    Directory of Open Access Journals (Sweden)

    Stevanović Ivana

    2005-01-01

    Full Text Available This paper is dedicated to analyses of the protection of juveniles - victims of abuse and neglect in criminal legal system of the Republic of Serbia. Particular attention is paid to of criminal acts against sexual integrity and family life of juveniles. The position of juveniles as witnesses in the criminal procedure has been viewed from the aspect of specify and vulnerability of the child, as well as through terms of secondary and tertiary victimization of minor as a victim.

  6. Giant Bilateral Juvenile Fibroadenoma of the Breast in Prepubescent Girl.

    Science.gov (United States)

    Khan, Salma; Khan, Momna; Rafique, Sadia

    2015-10-01

    Juvenile fibroadenoma accounts for 4% of the total fibroadenomas. Giant juvenile fibroadenoma is found in only 0.5% of all fibroadenomas. The authors report a 10-year girl presenting with progressive enlargement of both breasts for one year. Based on clinical findings and Fine Needle Aspiration Cytology (FNAC), a diagnosis of bilateral giant juvenile fibroadenomas of breast was made. She underwent bilateral lumpectomy with breast conservation and made uneventful postoperative recovery.

  7. New Ultrasound Biomicroscopy Iris Findings in Juvenile Xanthogranuloma.

    Science.gov (United States)

    Syed, Zeba A; Chen, Teresa C

    2016-08-01

    We report a case of juvenile xanthogranuloma in a 12-month-old girl presenting with heterochromia, hyphema, and elevated intraocular pressure. This case demonstrates new ultrasound biomicroscopy iris findings of a generalized bumpy iris contour, suggesting diffuse heterogeneous involvement. This imaging finding has not been previously described. Untreated, iris juvenile xanthogranuloma may lead to corneal blood staining, glaucoma, and amblyopia. An understanding of the full range of ultrasound features of juvenile xanthogranuloma expands our appreciation for the clinical findings in this condition.

  8. Neuromorphic silicon neuron circuits

    Directory of Open Access Journals (Sweden)

    Giacomo eIndiveri

    2011-05-01

    Full Text Available Hardware implementations of spiking neurons can be extremely useful for a large variety of applications, ranging from high-speed modeling of large-scale neural systems to real-time behaving systems, to bidirectional brain-machine interfaces. The specific circuit solutions used to implement silicon neurons depend on the application requirements. In this paper we describe the most common building blocks and techniques used to implement these circuits, and present an overview of a wide range of neuromorphic silicon neurons, which implement different computational models, ranging from biophysically realistic and conductance based Hodgkin-Huxley models to bi-dimensional generalized adaptive Integrate and Fire models. We compare the different design methodologies used for each silicon neuron design described, and demonstrate their features with experimental results, measured from a wide range of fabricated VLSI chips.

  9. Penalty responsibility of juveniles in the Republic of Srpska

    Directory of Open Access Journals (Sweden)

    Grbić-Pavlović Nikolina

    2011-01-01

    Full Text Available The youngest members of organized society, more intensive than ever enter the circle of those whose behavior is deviant. Juvenile delinquency is a social problem, which recently experienced an expansion in all modern countries, including Bosnia and Herzegovina and the Republic of Srpska. Considering the fact that juvenile delinquency includes lighter criminal conducts, such as, for example misdemeanors, in this paper a position of juveniles when they are a perpetrators of misdemeanors will be analyzed. Also, the paper will statistically show the number of misdemeanors in the field of public peace and order that juveniles conducted in the Republic of Srpska in the period 2004-2009.

  10. Eliminating the Competency Presumption in Juvenile Delinquency Cases.

    Science.gov (United States)

    Katner, David R

    2015-01-01

    The legal presumption used in virtually all juvenile delinquency cases in the U.S. is that all juveniles are competent to stand trial. This Article calls for the elimination of that legal presumption, which is historically based on the Dusky v. United States decision and in the adult criminal justice system. The recent decisions of the U.S. Supreme Court recognize the developmental and organic brain differences between adults and juveniles. Current research demonstrates a higher frequency rate of incompetence based on intellectual deficiencies among children when compared with adults found to be not legally competent to stand trial. By eliminating the competency presumption for juveniles in both delinquency and adult criminal proceedings, the party seeking an adjudication would be responsible for establishing that the accused juvenile is in fact, competent to stand trial. Foreign jurisdictions in Europe, Asia, Africa, and South America have long required higher thresholds--at least fourteen years of age--for holding juveniles accountable for criminal misconduct, none of them presuming that juveniles are competent to go to trial. In the alternative, by expanding the factors currently in use for determination of juvenile competency by adding developmental immaturity and mental illness, juvenile justice systems could identify the reduction of recidivist offending as the primary systemic objective.

  11. Food resource utilization by juvenile Baltic cod Gadus morhua : a mechanism potentially influencing recruitment success at the demersal juvenile stage?

    DEFF Research Database (Denmark)

    Hüssy, Karin; St. John, Michael; Böttcher, U.

    1997-01-01

    those reported to be consumed by juveniles in other areas. The apparent overlap in food resource utilization among the different size groups of demersal juveniles observed in this study suggests that in years with low prey abundance, or high abundance of pelagic juveniles, strong intra......Pelagic and demersal juvenile Baltic cod Gadus morhua L. were collected during surveys in the Bornholm Basin (Baltic Sea) in autumn 1994. Stomach contents were examined for prey composition in order to evaluate the potential importance of the pelagic and demersal habitats for recruitment success....... Juvenile cod less than 40 mm fed exclusively on pelagic prey such as copepods and cladocerans. Between 40 and 50 mm the juveniles began to consume benthic prey such as mysids and amphipods; however, copepods were still the dominant food organisms. Between 50 and 70 mm the dominant prey items consumed were...

  12. Motor neurone disease.

    Science.gov (United States)

    2016-03-23

    Essential facts Motor neurone disease describes a group of related diseases, affecting the neurones in the brain and spinal cord. Progressive, incurable and life-limiting, MND is rare, with about 1,100 people developing it each year in the UK and up to 5,000 people affected at any one time. One third of people will die within a year of diagnosis and more than half within two years. About 5% to 10% are alive at ten years.

  13. Neurons and Tumor Suppressors

    OpenAIRE

    Douglas W Zochodne

    2014-01-01

    Neurons choose growth pathways with half hearted reluctance, behavior that may be appropriate to maintain fixed long lasting connections but not to regenerate them. We now recognize that intrinsic brakes on regrowth are widely expressed in these hesitant neurons and include classical tumor suppressor molecules. Here, we review how two brakes, PTEN (phosphatase and tensin homolog deleted on chromosome 10) and retinoblastoma emerge as new and exciting knockdown targets to e...

  14. Growth of juvenile shrimp Metapenaeus monoceros fed with squid and mussel

    Digital Repository Service at National Institute of Oceanography (India)

    Achuthankutty, C.T.; Nair, S.R.S.; Krishnakumari, L.

    Small juveniles of both sexes and females of large juveniles of Metapenaeus monoceros attained faster growth with squid diet. Males of large juveniles registered better growth with mussel diet. No significant difference was observed in moult weights...

  15. 78 FR 42109 - Agency Information Collection Activities; Proposed Collection; Comments Requested: Juvenile...

    Science.gov (United States)

    2013-07-15

    ...: Juvenile Justice Reform and Reinvestment Initiative Stakeholder Survey Under OMB's Partnership Fund ACTION: 60 Day Notice. The Department of Justice (DOJ), Office of Justice Programs, Office of Juvenile...-3649, Office of Juvenile Justice and Delinquency Prevention, Office of Justice Programs,...

  16. 77 FR 70473 - Office of Juvenile Justice and Delinquency Prevention; Agency Information Collection Activities...

    Science.gov (United States)

    2012-11-26

    ... of Juvenile Justice and Delinquency Prevention; Agency Information Collection Activities: Proposed Collection; Comments Requested; Census of Juveniles in Residential Placement (Revision of a Currently..., Office of Juvenile Justice and Delinquency Prevention, will be submitting the following...

  17. 78 FR 40189 - Agency Information Collection Activities; Proposed Collection; Comments Requested: Juvenile...

    Science.gov (United States)

    2013-07-03

    ... of Juvenile Justice and Delinquency Prevention Agency Information Collection Activities; Proposed Collection; Comments Requested: Juvenile Residential Facility Census (Extension, Without Change, of a... Programs, Office of Juvenile Justice and Delinquency Prevention, will be submitting the...

  18. 78 FR 66383 - Agency Information Collection Activities; Proposed Collection; Comments Requested: Juvenile...

    Science.gov (United States)

    2013-11-05

    ... of Justice Programs Office of Juvenile Justice and Delinquency Prevention Agency Information Collection Activities; Proposed Collection; Comments Requested: Juvenile Justice Reform and Reinvestment... (DOJ), Office of Justice Programs, Office of Juvenile Justice and Delinquency Prevention, will...

  19. Neuron division or enucleation.

    Science.gov (United States)

    Sotnikov, O S; Laktionova, A A; Solovieva, I A; Krasnova, T V

    2010-10-01

    The classical Bielschowsky-Gross neurohistological method was used to reproduce all the morphological phenomena interpreted by many authors as signs of neuron division, budding, and fission. It is suggested that these signs are associated with the effects of enucleation, which occurs in many cells of other tissue types in response to a variety of chemical and physical treatments. Studies were performed using neurons isolated from the mollusk Lymnaea stagnalis and exposed in tissue culture to the actin microfilament inhibitor cytochalasin B. Phase contrast time-lapse video recording over periods of 4-8 h demonstrated nuclear displacement, ectopization, and budding, to the level of almost complete fission of the neuron body. This repeats the pattern seen in static fixed preparations in "normal" conditions and after different experimental treatments. Budding of the cytoplasm was also sometimes seen at the early stages of the experiments. Control experiments in which cultured neurons were exposed to the solvent for cytochalasin B, i.e., dimethylsulfoxide (DMSO), did not reveal any changes in neurons over a period of 8 h. We take the view that the picture previously interpreted as neuron division and fission can be explained in terms of the inhibition of actin microfilaments, sometimes developing spontaneously in cells undergoing individual metabolic changes preventing the maintenance of cytoskeleton stability.

  20. NeuronBank: A Tool for Cataloging Neuronal Circuitry.

    Science.gov (United States)

    Katz, Paul S; Calin-Jageman, Robert; Dhawan, Akshaye; Frederick, Chad; Guo, Shuman; Dissanayaka, Rasanjalee; Hiremath, Naveen; Ma, Wenjun; Shen, Xiuyn; Wang, Hsui C; Yang, Hong; Prasad, Sushil; Sunderraman, Rajshekhar; Zhu, Ying

    2010-01-01

    The basic unit of any nervous system is the neuron. Therefore, understanding the operation of nervous systems ultimately requires an inventory of their constituent neurons and synaptic connectivity, which form neural circuits. The presence of uniquely identifiable neurons or classes of neurons in many invertebrates has facilitated the construction of cellular-level connectivity diagrams that can be generalized across individuals within a species. Homologous neurons can also be recognized across species. Here we describe NeuronBank.org, a web-based tool that we are developing for cataloging, searching, and analyzing neuronal circuitry within and across species. Information from a single species is represented in an individual branch of NeuronBank. Users can search within a branch or perform queries across branches to look for similarities in neuronal circuits across species. The branches allow for an extensible ontology so that additional characteristics can be added as knowledge grows. Each entry in NeuronBank generates a unique accession ID, allowing it to be easily cited. There is also an automatic link to a Wiki page allowing an encyclopedic explanation of the entry. All of the 44 previously published neurons plus one previously unpublished neuron from the mollusc, Tritonia diomedea, have been entered into a branch of NeuronBank as have 4 previously published neurons from the mollusc, Melibe leonina. The ability to organize information about neuronal circuits will make this information more accessible, ultimately aiding research on these important models.

  1. NeuronBank: a tool for cataloging neuronal circuitry

    Directory of Open Access Journals (Sweden)

    Paul S Katz

    2010-04-01

    Full Text Available The basic unit of any nervous system is the neuron. Therefore, understanding the operation of nervous systems ultimately requires an inventory of their constituent neurons and synaptic connectivity, which form neural circuits. The presence of uniquely identifiable neurons or classes of neurons in many invertebrates has facilitated the construction of cellular-level connectivity diagrams that can be generalized across individuals within a species. Homologous neurons can also be recognized across species. Here we describe NeuronBank.org, a web-based tool that we are developing for cataloging, searching, and analyzing neuronal circuitry within and across species. Information from a single species is represented in an individual branch of NeuronBank. Users can search within a branch or perform queries across branches to look for similarities in neuronal circuits across species. The branches allow for an extensible ontology so that additional characteristics can be added as knowledge grows. Each entry in NeuronBank generates a unique accession ID, allowing it to be easily cited. There is also an automatic link to a Wiki page allowing an encyclopedic explanation of the entry. All of the 44 previously published neurons plus one previously unpublished neuron from the mollusc, Tritonia diomedea, have been entered into a branch of NeuronBank as have 4 previously published neurons from the mollusc, Melibe leonina. The ability to organize information about neuronal circuits will make this information more accessible, ultimately aiding research on these important models.

  2. NeuronBank: A Tool for Cataloging Neuronal Circuitry

    Science.gov (United States)

    Katz, Paul S.; Calin-Jageman, Robert; Dhawan, Akshaye; Frederick, Chad; Guo, Shuman; Dissanayaka, Rasanjalee; Hiremath, Naveen; Ma, Wenjun; Shen, Xiuyn; Wang, Hsui C.; Yang, Hong; Prasad, Sushil; Sunderraman, Rajshekhar; Zhu, Ying

    2010-01-01

    The basic unit of any nervous system is the neuron. Therefore, understanding the operation of nervous systems ultimately requires an inventory of their constituent neurons and synaptic connectivity, which form neural circuits. The presence of uniquely identifiable neurons or classes of neurons in many invertebrates has facilitated the construction of cellular-level connectivity diagrams that can be generalized across individuals within a species. Homologous neurons can also be recognized across species. Here we describe NeuronBank.org, a web-based tool that we are developing for cataloging, searching, and analyzing neuronal circuitry within and across species. Information from a single species is represented in an individual branch of NeuronBank. Users can search within a branch or perform queries across branches to look for similarities in neuronal circuits across species. The branches allow for an extensible ontology so that additional characteristics can be added as knowledge grows. Each entry in NeuronBank generates a unique accession ID, allowing it to be easily cited. There is also an automatic link to a Wiki page allowing an encyclopedic explanation of the entry. All of the 44 previously published neurons plus one previously unpublished neuron from the mollusc, Tritonia diomedea, have been entered into a branch of NeuronBank as have 4 previously published neurons from the mollusc, Melibe leonina. The ability to organize information about neuronal circuits will make this information more accessible, ultimately aiding research on these important models. PMID:20428500

  3. The challenges of the first migration : movement and behaviour of juvenile vs. adult white storks with insights regarding juvenile mortality

    OpenAIRE

    Rotics, Shay; Kaatz, Michael; Resheff, Yehezkel S.; Turjeman, Sondra Feldman; Zurell, Damaris; Sapir, Nir; Fiedler, Wolfgang; Jeltsch, Florian; Wikelski, Martin; Nathan, Ran

    2016-01-01

    Migration conveys an immense challenge, especially for juvenile birds coping with enduring and risky journeys shortly after fledging. Accordingly, juveniles exhibit considerably lower survival rates compared to adults, particularly during migration. Juvenile white storks (Ciconia ciconia), which are known to rely on adults during their first fall migration presumably for navigational purposes, also display much lower annual survival than adults. Using detailed GPS and body acceleration data, ...

  4. Brain extracellular matrix retains connectivity in neuronal networks.

    Science.gov (United States)

    Bikbaev, Arthur; Frischknecht, Renato; Heine, Martin

    2015-09-29

    The formation and maintenance of connectivity are critically important for the processing and storage of information in neuronal networks. The brain extracellular matrix (ECM) appears during postnatal development and surrounds most neurons in the adult mammalian brain. Importantly, the removal of the ECM was shown to improve plasticity and post-traumatic recovery in the CNS, but little is known about the mechanisms. Here, we investigated the role of the ECM in the regulation of the network activity in dissociated hippocampal cultures grown on microelectrode arrays (MEAs). We found that enzymatic removal of the ECM in mature cultures led to transient enhancement of neuronal activity, but prevented disinhibition-induced hyperexcitability that was evident in age-matched control cultures with intact ECM. Furthermore, the ECM degradation followed by disinhibition strongly affected the network interaction so that it strongly resembled the juvenile pattern seen in naïve developing cultures. Taken together, our results demonstrate that the ECM plays an important role in retention of existing connectivity in mature neuronal networks that can be exerted through synaptic confinement of glutamate. On the other hand, removal of the ECM can play a permissive role in modification of connectivity and adaptive exploration of novel network architecture.

  5. Comparison of the localization of tetrodotoxin between wild pufferfish Takifugu rubripes juveniles and hatchery-reared juveniles with tetrodotoxin administration.

    Science.gov (United States)

    Okita, Kogen; Takatani, Tomohiro; Nakayasu, Junichi; Yamazaki, Hideki; Sakiyama, Kazutaka; Ikeda, Koichi; Arakawa, Osamu; Sakakura, Yoshitaka

    2013-09-01

    To reveal the accumulation profile of tetrodotoxin (TTX) in pufferfish Takifugu rubripes juveniles, we compared the localization of TTX in various tissues among wild juveniles and hatchery-reared juveniles with or without TTX administration using immunohistochemical technique with anti-TTX monoclonal antibody. Immuno-positive reaction was observed in hepatic tissue, basal cell of skin and olfactory, olfactory epithelium, optic nerve and brain (optic tectum, cerebellum, medulla oblongata) of wild juveniles (body length: BL, 4.7-9.4 cm). TTX was detected in the same tissues as wild juveniles and epithelial cell layer of intestine of hatchery-reared juveniles (BL, 5.0-5.3 cm) to which TTX was orally administrated. No positive reaction was observed from the tissues of hatchery-reared juveniles without TTX administration. These results suggest that orally administrated TTX to the non-toxic cultured juveniles is accumulated in the same manner of wild juveniles. In addition, our study revealed that pufferfish accumulates TTX in the central nervous system.

  6. Tropical tree rings reveal preferential survival of fast-growing juveniles and increased juvenile growth rates over time.

    Science.gov (United States)

    Rozendaal, Danaë M A; Brienen, Roel J W; Soliz-Gamboa, Claudia C; Zuidema, Pieter A

    2010-02-01

    Long-term juvenile growth patterns of tropical trees were studied to test two hypotheses: fast-growing juvenile trees have a higher chance of reaching the canopy ('juvenile selection effect'); and tree growth has increased over time ('historical growth increase'). Tree-ring analysis was applied to test these hypotheses for five tree species from three moist forest sites in Bolivia, using samples from 459 individuals. Basal area increment was calculated from ring widths, for trees rings formed by small juveniles. Thus, extant adult trees in these species have had higher juvenile growth rates than extant juvenile trees. By contrast, rings formed by somewhat larger juveniles in four species showed the opposite pattern: a historical growth increase. For most size classes of > 10 cm diameter none of the patterns was found. Fast juvenile growth may be essential to enable tropical trees to reach the forest canopy, especially for small juvenile trees in the dark forest understorey. The historical growth increase requires cautious interpretation, but may be partially attributable to CO(2) fertilization.

  7. Neurons of human nucleus accumbens

    Directory of Open Access Journals (Sweden)

    Sazdanović Maja

    2011-01-01

    Full Text Available Background/Aim. Nucleus accumbens is a part of the ventral striatum also known as a drug active brain region, especially related with drug addiction. The aim of the study was to investigate the Golgi morphology of the nucleus accumbens neurons. Methods. The study was performed on the frontal and sagittal sections of 15 human brains by the Golgi Kopsch method. We classified neurons in the human nucleus accumbens according to their morphology and size into four types: type I - fusiform neurons; type II - fusiform neurons with lateral dendrite, arising from a part of the cell body; type III - pyramidal-like neuron; type IV - multipolar neuron. The medium spiny neurons, which are mostly noted regarding to the drug addictive conditions of the brain, correspond to the type IV - multipolar neurons. Results. Two regions of human nucleus accumbens could be clearly recognized on Nissl and Golgi preparations each containing different predominant neuronal types. Central part of nucleus accumbens, core region, has a low density of impregnated neurons with predominant type III, pyramidal-like neurons, with spines on secondary branches and rare type IV, multipolar neurons. Contrary to the core, peripheral region, shell of nucleus, has a high density of impregnated neurons predominantly contained of type I and type IV - multipolar neurons, which all are rich in spines on secondary and tertiary dendritic branches. Conclusion. Our results indicate great morphological variability of human nucleus accumbens neurons. This requires further investigations and clarifying clinical significance of this important brain region.

  8. Neuronal avalanches and learning

    Energy Technology Data Exchange (ETDEWEB)

    Arcangelis, Lucilla de, E-mail: dearcangelis@na.infn.it [Department of Information Engineering and CNISM, Second University of Naples, 81031 Aversa (Italy)

    2011-05-01

    Networks of living neurons represent one of the most fascinating systems of biology. If the physical and chemical mechanisms at the basis of the functioning of a single neuron are quite well understood, the collective behaviour of a system of many neurons is an extremely intriguing subject. Crucial ingredient of this complex behaviour is the plasticity property of the network, namely the capacity to adapt and evolve depending on the level of activity. This plastic ability is believed, nowadays, to be at the basis of learning and memory in real brains. Spontaneous neuronal activity has recently shown features in common to other complex systems. Experimental data have, in fact, shown that electrical information propagates in a cortex slice via an avalanche mode. These avalanches are characterized by a power law distribution for the size and duration, features found in other problems in the context of the physics of complex systems and successful models have been developed to describe their behaviour. In this contribution we discuss a statistical mechanical model for the complex activity in a neuronal network. The model implements the main physiological properties of living neurons and is able to reproduce recent experimental results. Then, we discuss the learning abilities of this neuronal network. Learning occurs via plastic adaptation of synaptic strengths by a non-uniform negative feedback mechanism. The system is able to learn all the tested rules, in particular the exclusive OR (XOR) and a random rule with three inputs. The learning dynamics exhibits universal features as function of the strength of plastic adaptation. Any rule could be learned provided that the plastic adaptation is sufficiently slow.

  9. Juvenile Justice in Australia 2009-10. Juvenile Justice Series. Number 8

    Science.gov (United States)

    Aalders, Rachel; Morgan, Kirsten

    2011-01-01

    In Australia, the state and territory governments are responsible for dealing with young people who are involved in crime. One major aspect of the juvenile justice system is the supervision of children and young people who have committed or are alleged to have committed an offence. This report presents information on the young people under…

  10. Predictors of Support for Juvenile Sex Offender Registration: Educated Individuals Recognize the Flaws of Juvenile Registration

    Science.gov (United States)

    Stevenson, Margaret C.; Smith, Amy C.; Sekely, Ady; Farnum, Katlyn S.

    2013-01-01

    We investigated demographic predictors of support for juvenile sex offender registration policies, including education level, gender, political orientation, and age. Participants were 168 individuals recruited from public places in a Midwest community (45% women; M age = 42). In line with hypotheses, as education level increased, support for…

  11. Influence of leptin and GABAB-receptor agonist and antagonist on neurons of the hypothalamic infundibular nucleus in the chicken.

    Science.gov (United States)

    Bogatyrev, S; Yakimova, K S; Tzschentke, B

    2017-04-01

    In birds and mammals, the neuroendocrine regulation of energy balance is conserved in many aspects. Despite significant similarities between the two groups, differences in the regulatory mechanisms were detected. The present study was performed to carry out investigations of the influence of human leptin and GABAB-receptor agonist and antagonist on the firing rate of neurons of the Nucleus infundibuli hypothalami in brain slices from juvenile chickens. For the first time, we demonstrated a clear, dose-related change in the firing rate of hypothalamic neurons in juvenile chickens after the acute application of recombinant human leptin (1, 10, and 100 nM). All investigated neurons increased their subsequent firing rate. Application of GABAB-receptor agonist baclofen (1 µM) blocked, while antagonist CGP 35348 (10 µM) increased the spontaneous neuronal activity. Simultaneous application of baclofen and leptin reduced the effect observed from single leptin application. This was not found after simultaneously application of leptin and CGP. Altogether, our results indicate that in bird brain slices, and exemplarily in those of the chicken, hypothalamic neurons show mammalian-like responsiveness after acute leptin and GABA application. GABAB-mechanisms involved in GABA release play a likely important role in the leptin-mediated effects on NI neurons via functional leptin receptors.

  12. Gold nephropathy in juvenile rheumatoid arthritis.

    Science.gov (United States)

    Husserl, F E; Shuler, S E

    1979-01-01

    A 2-year-old girl was treated with gold salts for juvenile rheumatoid arthritis. Treatment had to be discontinued when persistent proteinuria was detected. As this case report indicates, close monitoring of the urine is mandatory during treatment with gold salts to detect early signs of toxicity: hematuria followed by casts and then proteinuria as therapy is continued. Histologic examination with electron microscopy will help to differentiate the different forms of gold toxicity. When the findings are consistent with gold-induced renal involvement, therapy should be discontinued. The gold nephropathy usually resolves in time, with no permanent renal damage.

  13. Juvenile idiopathic arthritis: the paediatric perspective

    Energy Technology Data Exchange (ETDEWEB)

    Jordan, Alison [Birmingham Children' s Hospital, Department of Adolescent Rheumatology, Birmingham (United Kingdom); McDonagh, Janet E. [Birmingham Children' s Hospital, Institute of Child Health, Birmingham (United Kingdom)

    2006-08-15

    Paediatric rheumatology is a relatively new specialty that has developed rapidly over the last 30 years. There have been major advances, which have included improvements in the classification and management of juvenile idiopathic arthritis (JIA). The former has led to enhanced international collaboration with disease registries, multicentre research and the development of new therapeutic agents. This has resulted in improved disease control and remission induction in many. There is, however, still significant morbidity associated with JIA during childhood, adolescence and adulthood, and challenges for the future include early identification of those with a poorer prognosis, appropriate administration of safe therapies and optimizing outcomes as young people move through adolescence into adulthood. (orig.)

  14. Massive juvenile angiomatosis of maxilla and mandible

    Directory of Open Access Journals (Sweden)

    Dinesh Singh Chauhan

    2014-01-01

    Full Text Available Angiomatosis is a complex vascular malformation of infancy and childhood consisting of proliferating blood vessels with accompanying mature fat, fibrous tissue, lymphatic′s and nerves, which may involve skin, subcutaneous tissue, skeletal muscle and occasionally bone. It is extremely rare and benign, but a clinically extensive vascular lesion of soft-tissue, which usually becomes symptomatic during childhood or adolescence. We report a rare case of massive juvenile angiomatosis of maxilla and mandible in a 15-year-old male patient.

  15. Juvenile hyaline fibromatosis: a case report.

    Science.gov (United States)

    Karaçal, Naci; Gülçelik, Nevzat; Yildiz, Kadriye; Mungan, Sevdegül; Kutlu, Necmettin

    2005-07-01

    Juvenile hyaline fibromatosis ( JHF ) is a rare autosomal recessive disease characterized by papulonodular skin lesions, gingival hyperplasia, joint contractures, and bone lesions. The skin lesions may consist of multiple large tumors, commonly on the scalp and around the neck, and small pearly, pink papules and plaques on the trunk, chin, ears, and around the nostrils. Here, we report a 2-year-old boy with characteristic stiffness of the knees and elbows and pink confluent papules on the paranasal folds, and periauricular and perianal regions. He also had hard nodules all over the scalp and around the mouth, and severe gingival hyperplasia. The lesions were totally excised and clinicopathological diagnosis was JHF.

  16. Managing juvenile Huntington’s disease

    OpenAIRE

    Quarrell, Oliver W. J.; Nance, Martha A.; Nopoulos, Peggy; Paulsen, Jane S.; Smith, Jonathan A.; Squitieri, Ferdinando

    2013-01-01

    Huntington’s disease (HD) is a well-recognized progressive neurodegenerative disorder that follows an autosomal dominant pattern of inheritance. Onset is insidious and can occur at almost any age, but most commonly the diagnosis is made between the ages of 35 and 55 years. Onset ≤20 years of age is classified as juvenile HD (JHD). This age-based definition is arbitrary but remains convenient. There is overlap between the clinical pathological and genetic features seen in JHD and more traditio...

  17. Cranial juvenile psammomatoid ossifying fibroma: case report.

    Science.gov (United States)

    Barrena López, Cristina; Bollar Zabala, Alicia; Úrculo Bareño, Enrique

    2016-03-01

    Juvenile psammomatoid ossifying fibroma (JPOF) is a fibroosseous tumor that arises in the craniofacial bones in young people. This lesion usually originates in the jaw, orbit, and ethmoid complex but can also be associated with the skull base and calvaria. Diagnosis must be made based on observing typical radiological and histopathological features. Although JPOF is a rare pathological entity, neurosurgeons must consider this odontogenic lesion in the differential diagnosis of skull masses given the lesion's aggressive behavior and locally invasive growth. Treatment must be gross-total resection. In the following article, the authors present a case of cranial JPOF and discuss various aspects of this entity.

  18. Juvenile idiopathic arthritis: a clinical overview

    Energy Technology Data Exchange (ETDEWEB)

    Davidson, J

    2000-02-01

    The chronic arthritides in childhood remain a poorly understood group of conditions. Their classification has been a source of much confusion over the years with differences in terminology between Europe and North America. A significant step forward in paediatric rheumatology has been the recent development of an internationally agreed classification system which uses the overall term juvenile idiopathic arthritis (JIA). The various subtypes of JIA and their clinical features are described, together with an overview of their differential diagnosis, complications and outcomes. An outline of current management strategies is given and potential future developments highlighted.

  19. CYCLOSPORIN A IN THERAPY FOR JUVENILE ARTHRITIS

    Directory of Open Access Journals (Sweden)

    E S Fedorov

    2010-01-01

    Full Text Available The paper describes approaches to using cyclosporin A (CsA in juvenile arthritis (JA. It shows the benefits of combination basic therapy with CsA and methotrexate included into a treatment regimen mainly for systemic JA and JA involving the eye (uveitis versus monotherapy with the above drugs. Attention is drawn to that the oral dose of glucocorticoids may be decreased when CsA is incorporated into the treatment regimen. CsA is shown to be of value as the drug of choice for the therapy of such a menacing complication of systemic JA as the macrophage activation syndrome

  20. Polipose juvenil: relato de 2 casos Juvenile polyposis: case two report

    Directory of Open Access Journals (Sweden)

    Juvenal da Rocha Torres Neto

    2010-06-01

    Full Text Available A Polipose Juvenil é uma afecção rara e faz parte do grupo das poliposes hamartomatosas familiares (PHF. É uma síndrome autossômica dominante que pode ser desencadeada por mutações no gene SMAD4/DPC4 (que codifica um sinalizador intermediário de TGF-b. Caracteriza-se pelo aparecimento de 10 ou mais pólipos hamartomatosos (juvenis no trato gastrintestinal, predominando no cólon. Costuma manifestar-se entre 4 e 14 anos de idade. Alguns pólipos adquirem focos adenomatosos apesar da natureza hamartomatosa das lesões e há chance de malignização. Relato de 2 casos de pacientes portadores de Polipose Juvenil colônica associada a focos de adenoma com displasia e revisão da literatura.Juvenile Polyposis Syndrome is a rare disease and is included in the Hamartomatous Familial Polyposis's (HFP group. It's an autosomal dominant syndrome which can be determinated by SMAD4/DPC4 germline mutations (which codifies an intermediary mediator of TGF-b. It's characterized by 10 or more hamartomatous polyps (juveniles throughout the gastrointestinal tract, especially in the colon. The symptoms usually appears between the ages of 4 and 14 years old. Some polyps can acquire adenomatous changes despite the lesion's hamartomatous nature and there's chance of colorectum malignization. Case report of two patients with Juvenile Polyposis coli associated to adenomatous changes with dysplasia and literature review.

  1. Dating Violence and Girls in the Juvenile Justice System

    Science.gov (United States)

    Kelly, Patricia J.; Cheng, An-Lin; Peralez-Dieckmann, Esther; Martinez, Elisabeth

    2009-01-01

    The purpose of this study is to explore the prevalence and associated behaviors of dating violence among a population of girls in the juvenile justice system. A sample of 590 girls from an urban juvenile justice system completed a questionnaire assessing attitudes and self-efficacy about and occurrence of dating violence. The analysis developed a…

  2. The Challenges in Providing Needed Transition Programming to Juvenile Offenders

    Science.gov (United States)

    Platt, John S.; Bohac, Paul D.; Wade, Wanda

    2015-01-01

    The transition to and from juvenile justice settings is a complex and challenging process. Effectively preparing juvenile justice personnel to address the transition needs of incarcerated students is an essential aspect of reducing the negative effects of the school-to-prison pipeline. This article examines program and professional development…

  3. Psychiatric Disorders of Youth in Detention. Juvenile Justice Bulletin

    Science.gov (United States)

    Teplin, Linda A.; Abram, Karen M.; McClelland, Gary M.; Mericle, Amy A.; Dulcan, Mina K.; Washburn, Jason J.

    2006-01-01

    This bulletin examines the prevalence of alcohol, drug, and mental disorders among youth at the Cook County (Illinois) Juvenile Temporary Detention Center, by gender, race/ethnicity, and age. Drawing on research conducted by the Northwestern Juvenile Project, this bulletin finds that nearly two-thirds of males and three-quarters of females studied…

  4. Treatment for Juveniles Who Sexually Offend in a Southwestern State

    Science.gov (United States)

    Ikomi, Philip A.; Harris-Wyatt, Georgetta; Doucet, Geraldine; Rodney, H. Elaine

    2009-01-01

    A 25-item questionnaire was mailed to sex offender treatment providers from counties with 60 or more reported juvenile sex offenders in a Southwestern state to determine the most effective treatment for juvenile sex offenders. Results indicated that cognitive behavioral therapy was the most successful reported approach to treatment with an average…

  5. Juvenile female sex offenders: Offender and offence characteristics

    NARCIS (Netherlands)

    Wijkman, M.; Bijleveld, C.; Hendriks, J.

    2014-01-01

    Almost all research on juvenile sex offending pertains to adolescent males. This study comprises all female juveniles convicted for sexual offences in the Netherlands between 1993 and 2008 (N = 66). From analysis of their court files and their criminal records, these female offenders are described i

  6. 28 CFR 0.57 - Criminal prosecutions against juveniles.

    Science.gov (United States)

    2010-07-01

    ... 28 Judicial Administration 1 2010-07-01 2010-07-01 false Criminal prosecutions against juveniles. 0.57 Section 0.57 Judicial Administration DEPARTMENT OF JUSTICE ORGANIZATION OF THE DEPARTMENT OF JUSTICE Criminal Division § 0.57 Criminal prosecutions against juveniles. The Assistant Attorney...

  7. Family and Community Perceptions of Quality in Juvenile Justice Programs

    Science.gov (United States)

    Selber, Katherine; Streeter, Calvin

    2004-01-01

    The conceptualization and empirical assessment of service quality in juvenile justice remains limited. There are few reports on programmatic attempts to assess satisfaction in juvenile justice programs or attempts to include what constitutes quality of service from multiple customer perspectives. This article describes a potential model, the Gap…

  8. The Effects of Computerized Information Systems on Juvenile Courts

    Science.gov (United States)

    Albrecht, Gary L.

    1976-01-01

    Organizational theorists alternatively hypothesized that computerized information systems (CIS) will produce no necessary changes, centralization, or decentralization in juvenile courts. This hypothesis is supported by the results of a four year study on the phenomenon. Suggestions are offered for improving the juvenile judicial system through…

  9. A Structural Equation Modeling Analysis of Influences on Juvenile Delinquency

    Science.gov (United States)

    Barrett, David E.; Katsiyannis, Antonis; Zhang, Dalun; Zhang, Dake

    2014-01-01

    This study examined influences on delinquency and recidivism using structural equation modeling. The sample comprised 199,204 individuals: 99,602 youth whose cases had been processed by the South Carolina Department of Juvenile Justice and a matched control group of 99,602 youth without juvenile records. Structural equation modeling for the…

  10. Social Skills Training for Juvenile Delinquents: Post-Treatment Changes

    NARCIS (Netherlands)

    van der Stouwe, Trudy; Asscher, J.J.; Stams, G.J.J.M.; Hoeve, M.; van der Laan, Peter H.

    2016-01-01

    Objectives: To examine the post-treatment effectiveness of an outpatient, individual social skills training for juvenile delinquents in the Netherlands and to conduct moderator tests for age, gender, ethnicity, and risk of reoffending. Methods: The sample consisted of juveniles who received Tools4U,

  11. Social skills training for juvenile delinquents : Post-treatment changes

    NARCIS (Netherlands)

    van der Stouwe, T.; Asscher, J.J.; Hoeve, M.; van der Laan, P.H.; Stams, G.J.J.M.

    2016-01-01

    Objectives To examine the post-treatment effectiveness of an outpatient, individual social skills training for juvenile delinquents in the Netherlands and to conduct moderator tests for age, gender, ethnicity, and risk of reoffending. Methods The sample consisted of juveniles who received Tools4U, a

  12. Office of Juvenile Justice and Delinquency Prevention, 1991 Annual Report.

    Science.gov (United States)

    Digital Systems Research Inc., Arlington, VA.

    This report fulfills the annual reporting requirements of the Juvenile Justice and Delinquency Prevention (JJDP) Act of 1974 as amended, and describes the Office of Juvenile Justice and Delinquency Prevention's (OJJDP) efforts to carry out the broad mandates of the JJDP Act during fiscal year 1991. The report begins with an explanation of the…

  13. Practitioner Views of Priorities, Policies, and Practices in Juvenile Justice

    Science.gov (United States)

    Mears, Daniel P.; Shollenberger, Tracey L.; Willison, Janeen B.; Owens, Colleen E.; Butts, Jeffrey A.

    2010-01-01

    Dramatic changes in juvenile justice have occurred in recent decades. One result has been the emergence of new policies and practices, many of which remain largely unexamined. One avenue for gaining insight into whether such policies and practices are needed or effective, as well as into how the juvenile justice system might be improved, is to tap…

  14. Spatial dynamics of juvenile anchovy in the Bay of Biscay

    KAUST Repository

    Boyra, Guillermo

    2016-07-08

    In autumn 2009, the implementation of two successive acoustic surveys targeting juvenile anchovy (Engraulis encrasicolus) in the Bay of Biscay allowed us to monitor the changes in the spatial distribution and aggregation patterns of juveniles of this species during 45 days under fairly stable meteorological conditions. Juvenile anchovy changed its biological condition and behavior in a different manner in two distinct areas. In the Spanish sector, the juveniles migrated 20 nautical miles (n.mi.) towards the coast, but they remained on the shelf and near the surface during the whole surveyed period. As the advance towards the shelf break progressed, their area of distribution decreased, their density increased and the juveniles spread in fewer but heavier shoals. In the French sector, the juveniles also migrated from slope waters towards the coast at a similar velocity, but they crossed the shelf break into the continental shelf, where they increased their mean depth significantly until gradually adopting the typical nyctemeral migrations of adult anchovy. The mean length of the juveniles that adopted the nyctemeral migrations was significantly higher than that of the juveniles remaining at the surface, suggesting that body size is relevant to accomplish this change. Besides, the stronger temperature gradients between the shelf and oceanic waters in the Spanish sector, favored by a narrow shelf, may have acted as a barrier influencing the distinct observed spatial patterns in the two areas. © 2016 John Wiley & Sons Ltd

  15. Juvenile Crime and Criminal Justice: Resolving Border Disputes

    Science.gov (United States)

    Fagan, Jeffrey

    2008-01-01

    Rising juvenile crime rates during the 1970s and 1980s spurred state legislatures across the country to exclude or transfer a significant share of offenders under the age of eighteen to the jurisdiction of the criminal court, essentially redrawing the boundary between the juvenile and adult justice systems. Jeffrey Fagan examines the legal…

  16. Extinguishing All Hope: Life-without-Parole for Juveniles

    Science.gov (United States)

    Butler, Frank

    2010-01-01

    Sentencing juveniles to life-without-parole (JLWOP) is a practice fraught with ethical dilemmas. Through in-depth interviews with 11 men living sentences of JLWOP, their narratives of their backgrounds and experiences as juveniles were studied. Common themes were identified, and 3 general categories of cases emerged from the narratives. Ethical…

  17. IDEA-Related Professional Development in Juvenile Corrections Schools

    Science.gov (United States)

    Gagnon, Joseph Calvin; Steinberg, Mary Anne; Crockett, Jean; Murphy, Kristin M.; Gaddis, Justin

    2013-01-01

    Incarcerated youth are among the least academically and behaviorally competent students in the United States. In spite of juvenile justice reform efforts, including state and federal guarantees of appropriate education, educational services in juvenile corrections (JC) schools, especially for youth with disabilities, are lacking (Houchins,…

  18. The Content Validity of Juvenile Psychopathy: An Empirical Examination

    Science.gov (United States)

    Lynam, Donald R.; Derefinko, Karen J.; Caspi, Avshalom; Loeber, Rolf; Stouthamer-Loeber, Magda

    2007-01-01

    This study examined the content validity of a juvenile psychopathy measure, the Childhood Psychopathy Scale (CPS; D. R. Lynam, 1997), based on a downward translation of an adult instrument, the Hare Psychopathy Checklist-Revised (PCL-R; R. D. Hare, 1991). The CPS was compared with two other indices of juvenile psychopathy: (a) an index derived…

  19. Dating Violence and Girls in the Juvenile Justice System

    Science.gov (United States)

    Kelly, Patricia J.; Cheng, An-Lin; Peralez-Dieckmann, Esther; Martinez, Elisabeth

    2009-01-01

    The purpose of this study is to explore the prevalence and associated behaviors of dating violence among a population of girls in the juvenile justice system. A sample of 590 girls from an urban juvenile justice system completed a questionnaire assessing attitudes and self-efficacy about and occurrence of dating violence. The analysis developed a…

  20. The Juvenile Addiction Risk Rating: Development and Initial Psychometrics

    Science.gov (United States)

    Powell, Michael; Newgent, Rebecca A.

    2016-01-01

    This article describes the development and psychometrics of the Juvenile Addiction Risk Rating. The Juvenile Addiction Risk Rating is a brief screening of addiction potential based on 10 risk factors predictive of youth alcohol and drug-related problems that assists examiners in more accurate treatment planning when self-report information is…

  1. Neuronal survival in the brain: neuron type-specific mechanisms.

    Science.gov (United States)

    Pfisterer, Ulrich; Khodosevich, Konstantin

    2017-03-02

    Neurogenic regions of mammalian brain produce many more neurons that will eventually survive and reach a mature stage. Developmental cell death affects both embryonically produced immature neurons and those immature neurons that are generated in regions of adult neurogenesis. Removal of substantial numbers of neurons that are not yet completely integrated into the local circuits helps to ensure that maturation and homeostatic function of neuronal networks in the brain proceed correctly. External signals from brain microenvironment together with intrinsic signaling pathways determine whether a particular neuron will die. To accommodate this signaling, immature neurons in the brain express a number of transmembrane factors as well as intracellular signaling molecules that will regulate the cell survival/death decision, and many of these factors cease being expressed upon neuronal maturation. Furthermore, pro-survival factors and intracellular responses depend on the type of neuron and region of the brain. Thus, in addition to some common neuronal pro-survival signaling, different types of neurons possess a variety of 'neuron type-specific' pro-survival constituents that might help them to adapt for survival in a certain brain region. This review focuses on how immature neurons survive during normal and impaired brain development, both in the embryonic/neonatal brain and in brain regions associated with adult neurogenesis, and emphasizes neuron type-specific mechanisms that help to survive for various types of immature neurons. Importantly, we mainly focus on in vivo data to describe neuronal survival specifically in the brain, without extrapolating data obtained in the PNS or spinal cord, and thus emphasize the influence of the complex brain environment on neuronal survival during development.

  2. Serum neopterin is not increased in obese juveniles.

    Science.gov (United States)

    Mangge, Harald; Freytag, Florian; Almer, Gunter; Weghuber, Daniel; Bauer-Denk, Carmen; Fuchs, Dietmar

    2011-01-01

    Objective. Cardiovascular disease is associated with inflammation and immune activation, concentrations of immune activation markers like neopterin predict outcome in adults. Methods. Serum neopterin concentrations and early metabolic and pre-atherosclerotic symptoms were analyzed in 295 obese juveniles and 101 normal weight controls of similar age. Additionally, the influence of a 12 months weight reduction program on neopterin levels was investigated in 31 obese juveniles. Results. Intima-media thickness of common carotid arteries (IMT) and the concentrations of C-reactive protein (CRP) were increased in the obese juveniles (P juveniles (P juvenile obesity behaved considerably different from what was demonstrated in adults, levels did not correlate with metabolic and pre-atherosclerotic symptoms found in early phases although early vascular burden and chronic low grade inflammation was indicated by increased IMT and CRP. Neopterin concentrations increased after a 12 months intervention program.

  3. Kappe neurons, a novel population of olfactory sensory neurons

    Science.gov (United States)

    Ahuja, Gaurav; Nia, Shahrzad Bozorg; Zapilko, Veronika; Shiriagin, Vladimir; Kowatschew, Daniel; Oka, Yuichiro; Korsching, Sigrun I.

    2014-02-01

    Perception of olfactory stimuli is mediated by distinct populations of olfactory sensory neurons, each with a characteristic set of morphological as well as functional parameters. Beyond two large populations of ciliated and microvillous neurons, a third population, crypt neurons, has been identified in teleost and cartilaginous fishes. We report here a novel, fourth olfactory sensory neuron population in zebrafish, which we named kappe neurons for their characteristic shape. Kappe neurons are identified by their Go-like immunoreactivity, and show a distinct spatial distribution within the olfactory epithelium, similar to, but significantly different from that of crypt neurons. Furthermore, kappe neurons project to a single identified target glomerulus within the olfactory bulb, mdg5 of the mediodorsal cluster, whereas crypt neurons are known to project exclusively to the mdg2 glomerulus. Kappe neurons are negative for established markers of ciliated, microvillous and crypt neurons, but appear to have microvilli. Kappe neurons constitute the fourth type of olfactory sensory neurons reported in teleost fishes and their existence suggests that encoding of olfactory stimuli may require a higher complexity than hitherto assumed already in the peripheral olfactory system.

  4. Generation of induced neurons by direct reprogramming in the mammalian cochlea.

    Science.gov (United States)

    Nishimura, K; Weichert, R M; Liu, W; Davis, R L; Dabdoub, A

    2014-09-05

    Primary auditory neurons (ANs) in the mammalian cochlea play a critical role in hearing as they transmit auditory information in the form of electrical signals from mechanosensory cochlear hair cells in the inner ear to the brainstem. Their progressive degeneration is associated with disease conditions, excessive noise exposure and aging. Replacement of ANs, which lack the ability to regenerate spontaneously, would have a significant impact on research and advancement in cochlear implants in addition to the amelioration of hearing impairment. The aim of this study was to induce a neuronal phenotype in endogenous non-neural cells in the cochlea, which is the essential organ of hearing. Overexpression of a neurogenic basic helix-loop-helix transcription factor, Ascl1, in the cochlear non-sensory epithelial cells induced neurons at high efficiency at embryonic, postnatal and juvenile stages. Moreover, induced neurons showed typical properties of neuron morphology, gene expression and electrophysiology. Our data indicate that Ascl1 alone or Ascl1 and NeuroD1 is sufficient to reprogram cochlear non-sensory epithelial cells into functional neurons. Generation of neurons from non-neural cells in the cochlea is an important step for the regeneration of ANs in the mature mammalian cochlea. Copyright © 2014 IBRO. Published by Elsevier Ltd. All rights reserved.

  5. Stochastic neuron models

    CERN Document Server

    Greenwood, Priscilla E

    2016-01-01

    This book describes a large number of open problems in the theory of stochastic neural systems, with the aim of enticing probabilists to work on them. This includes problems arising from stochastic models of individual neurons as well as those arising from stochastic models of the activities of small and large networks of interconnected neurons. The necessary neuroscience background to these problems is outlined within the text, so readers can grasp the context in which they arise. This book will be useful for graduate students and instructors providing material and references for applying probability to stochastic neuron modeling. Methods and results are presented, but the emphasis is on questions where additional stochastic analysis may contribute neuroscience insight. An extensive bibliography is included. Dr. Priscilla E. Greenwood is a Professor Emerita in the Department of Mathematics at the University of British Columbia. Dr. Lawrence M. Ward is a Professor in the Department of Psychology and the Brain...

  6. Factors influencing predation on juvenile ungulates and natural selection implications

    Directory of Open Access Journals (Sweden)

    S. M. Barber-Meyer

    2008-06-01

    Full Text Available Juvenile ungulates are generally more vulnerable to predation than are adult ungulates other than senescent individuals, not only because of their relative youth, fragility, and inexperience, but also because of congenital factors. Linnell et al.’s (Wildl. Biol. 1: 209-223 extensive review of predation on juvenile ungulates concluded that research was needed to determine the predisposition of these juveniles to predation. Since then, various characteristics that potentially predispose juvenile ungulates have emerged including blood characteristics, morphometric and other condition factors, and other factors such as birth period, the mother’s experience, and spatial and habitat aspects. To the extent that any of the physical or behavioral traits possessed by juvenile ungulates have a genetic or heritable and partly independent epigenetic component that predisposes them to predation, predators may play an important role in their natural selection. We review the possible influence of these characteristics on predisposing juvenile ungulates to predation and discuss natural selection implications and potential selection mechanisms. Although juvenile ungulates as a class are likely more vulnerable to predation than all but senescent adults, our review presents studies indicating that juveniles with certain tendencies or traits are killed more often than others. This finding suggests that successful predation on juveniles is more selective than is often assumed. Because we are unable to control for (or in some cases even measure the myriad of other possible vulnerabilities such as differences in sensory abilities, intelligence, hiding abilities, tendency to travel, etc., finding selective predation based on the relatively few differences we can measure is noteworthy and points to the significant role that predation on juveniles has in the natural selection of ungulates. Future research should compare characteristics, especially those known to

  7. [Lung is also involved in juvenile dermatomyositis].

    Science.gov (United States)

    Pouessel, G; Thumerelle, C; Nève, V; Santangelo, T; Flammarion, S; Pruvot, I; Tillie-Leblond, I; Deschildre, A

    2014-07-01

    Juvenile dermatomyositis is the leading cause of chronic idiopathic inflammatory myopathy of auto-immune origin in children. Lung involvement in inflammatory myopathies is well described in adults, involving mostly interstitial lung disease, aspiration pneumonia and alveolar hypoventilation. We propose to describe its specificities in children. Pulmonary involvement may be asymptomatic and therefore must be systematically screened for. In case of clinical or functional respiratory abnormality, a chest computed tomographic (CT) scan is necessary. In children, a decrease of respiratory muscle strength seems common and should be systematically and specifically searched for by non-invasive and reproducible tests (sniff test). Interstitial lung disease usually associates restrictive functional defect, impairment of carbon monoxide diffusion and interstitial lung disease on CT scan. As in adults, the first-line treatment of juvenile dermatomyositis is based on corticosteroids. Corticosteroid resistant forms require corticosteroid bolus or adjuvant immunosuppressive drugs (methotrexate or cyclosporine). There is no consensus in pediatrics for the treatment of diffuse interstitial lung disease. Complications of treatment, including prolonged steroid therapy, are frequent and therefore a careful assessment of the treatments risk-benefit ratio is necessary, especially in growing children.

  8. El desempleo juvenil: problema de efectos perpetuos

    Directory of Open Access Journals (Sweden)

    Fabio José De La Hoz

    2012-05-01

    Full Text Available El presente artículo evidencia avances teóricos y empíricos respecto al análisis deldesempleo juvenil, subrayando en materia teórica argumentos relacionados con las causas de estefenómeno, tales como la dinámica poblacional juvenil, el desempleo estructural y las condicionessocioeconómicas de los países; las consecuencias, como los bajos ingresos, la exclusión social yel desarrollo de actividades delictivas, efectos que pueden prolongarse por más de diez años. Y enmateria metodológica, diferencias conceptuales para definir a un individuo “joven”, que varían depaís a país, y dependen de instituciones nacionales encargadas de la información estadística, y enalgunos casos, de las mismas condiciones económicas de los países.

  9. Frontal Sinus Development and Juvenile Age Estimation.

    Science.gov (United States)

    Moore, Kaitlin; Ross, Ann

    2017-09-01

    Assessment of development is an important component of age estimation in juveniles. One area that has not been fully investigated as a possible aging method is the development of the frontal sinus. The frontal sinuses form when the ectocranial table of the frontal bone separates from the endocranial table forming an air pocket in the bone. The endocranial table ceases growth with the brain, while the ectocranial table is displaced anteriorly as the facial bones continue growth. In order to examine growth and the utility of the frontal sinuses for age estimation, 392 radiographs were examined (♀=159 and ♂=233) from the Juvenile Radiograph Database at North Carolina State University and the Patricia Database from Mercyhurst University. The sample included individuals who ranged in age from 0 to 18 years. Anterior view (or AP) radiographs were examined and were grouped based upon the presence or absence of the frontal sinus. Individuals were grouped into four age categories. A one-way ANOVA was performed to test whether developmental phase was related to age. Results from the ANOVA show that developmental phase is significantly related to age (P Anat Rec, 300:1609-1617, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  10. Heterogeneidad de trayectorias laborales y temporalidades juveniles

    Directory of Open Access Journals (Sweden)

    María Eugenia Longo

    2011-10-01

    Full Text Available Las trayectorias laborales de los jóvenes se diversifican en función de las duraciones, las etapas y las edades en las que ocurren los acontecimientos y se alcanzan ciertos roles. Sin embargo, factores clásicos asociados al origen social o al mundo del trabajo no alcanzan para comprender la diferenciación en los modos de inserción. Este artículo propone la inclusión de las temporalidades juveniles como factor clave para la comprensión de trayectorias laborales de jóvenes. Las temporalidades juveniles sirven para observar conjuntamente los marcos temporales dominantes de la inserción y la manera en la que los mismos son vividos por los sujetos. Las mismas discuten las tesis que señalan que en Argentina los jóvenes son prisioneros de un presentismo sin proyecto o que se someten inevitablemente a un contexto laboral incierto. Cuatro tipo des temporalidades han emergido en el análisis cualitativo y longitudinal de las trayectorias : los "planificadores", los "ejecutantes", los "latentes" y los "oportunistas"

  11. Systemic-onset juvenile idiopathic arthritis.

    Science.gov (United States)

    Cimaz, Rolando

    2016-09-01

    Systemic-onset juvenile idiopathic arthritis (SoJIA) is a systemic inflammatory disease which has up to now been classified as a category of juvenile idiopathic arthritis. However, in this context, systemic inflammation has been associated with dysregulation of the innate immune system, suggesting that it may rather be part of the spectrum of autoinflammatory disorders. The disease is in fact unique with regard to the other JIA categories, in terms of clinical manifestations, prognosis, and response to conventional immunosuppressant therapies. It is characterized clinically by fever, lymphadenopathy, arthritis, rash, and serositis. IL-1 and IL-6 play a major role in the pathogenesis of SoJIA, and treatment with IL-1 and IL-6 inhibitors has shown to be highly effective. However, complications of SoJIA, including macrophage activation syndrome, limitations in functional outcome by arthritis and long-term damage from chronic inflammation continue to be a major issue in patients' care. Recent advances on the pathogenesis and treatment have revolutionized the care and prognosis of this potentially life-threatening pediatric condition.

  12. Clinical outcome measures in juvenile idiopathic arthritis.

    Science.gov (United States)

    Consolaro, Alessandro; Giancane, Gabriella; Schiappapietra, Benedetta; Davì, Sergio; Calandra, Serena; Lanni, Stefano; Ravelli, Angelo

    2016-04-18

    Juvenile idiopathic arthritis (JIA), as a chronic condition, is associated with significant disease- and treatment-related morbidity, thus impacting children's quality of life. In order to optimize JIA management, the paediatric rheumatologist has begun to regularly use measurements of disease activity developed, validated and endorsed by international paediatric rheumatology professional societies in an effort to monitor the disease course over time and assess the efficacy of therapeutic interventions in JIA patients.A literature review was performed to describe the main outcome measures currently used in JIA patients to determine disease activity status.The Juvenile Disease Activity Score (JADAS), in its different versions (classic JADAS, JADAS-CRP and cJADAS) and the validated definitions of disease activity and response to treatment represent an important tool for the assessment of clinically relevant changes in disease activity, leading more and more to a treat-to-target strategy, based on a tight and thorough control of the patient condition. Moreover, in recent years, increasing attention on the incorporation of patient-reported or parent-reported outcomes (PRCOs), when measuring the health state of patients with paediatric rheumatic diseases has emerged.We think that the care of JIA patients cannot be possible without taking into account clinical outcome measures and, in this regard, further work is required.

  13. Managing juvenile idiopathic arthritis-associated uveitis.

    Science.gov (United States)

    Hawkins, Madeleine J; Dick, Andrew D; Lee, Richard J W; Ramanan, Athimalaipet V; Carreño, Ester; Guly, Catherine M; Ross, Adam H

    2016-01-01

    Bilateral chronic anterior uveitis is an extra-articular feature of juvenile idiopathic arthritis. Although figures vary, uveitis occurs in approximately 11%-13% of patients with this disease and is most commonly associated with the female gender, oligoarthritis, and presence of antinuclear antibodies. The disease has an insidious onset and is often asymptomatic. Managing patients with juvenile idiopathic arthritis-associated uveitis remains challenging as the disease may prove to be refractory to traditional treatment regimens. Stepwise immunomodulatory therapy is indicated, with new biologic drugs being used last in cases of refractory uveitis. Small scale studies and practice have provided the evidence to undertake randomized control trials to evaluate the efficacy, safety, and cost-effectiveness of anti-tumor necrosis factor-α therapies, such as infliximab and adalimumab. These have demonstrated promising results, with further data awaited from ongoing trials for adalimumab (as SYCAMORE and ADJUVITE trials). Lower grade evidence is supporting the use of newer biologics such as rituximab, daclizumab, tocilizumab, and abatacept in those cases refractory to anti-tumor necrosis factor-α therapy.

  14. Juvenile Delinquency and Teenage Pregnancy: A Comparison of Ecological Risk Profiles among Midwestern White and Black Female Juvenile Offenders

    Science.gov (United States)

    Khurana, Atika; Cooksey, Elizabeth C.; Gavazzi, Stephen M.

    2011-01-01

    The authors examined ecological risk factors associated with teen pregnancy with a sample of 1,190 court-involved female juvenile offenders between 11 and 18 years of age. Data were obtained from five Midwestern juvenile county courts using a recently developed youth risk assessment instrument called the global risk assessment device (GRAD). In…

  15. Juvenile Delinquency and Teenage Pregnancy: A Comparison of Ecological Risk Profiles among Midwestern White and Black Female Juvenile Offenders

    Science.gov (United States)

    Khurana, Atika; Cooksey, Elizabeth C.; Gavazzi, Stephen M.

    2011-01-01

    The authors examined ecological risk factors associated with teen pregnancy with a sample of 1,190 court-involved female juvenile offenders between 11 and 18 years of age. Data were obtained from five Midwestern juvenile county courts using a recently developed youth risk assessment instrument called the global risk assessment device (GRAD). In…

  16. From Neurons to Newtons

    DEFF Research Database (Denmark)

    Nielsen, Bjørn Gilbert

    2001-01-01

    proteins generate forces, to the macroscopic levels where overt arm movements are vol- untarily controlled within an unpredictable environment by legions of neurons¯ring in orderly fashion. An extensive computer simulation system has been developed for this thesis, which at present contains a neural...... network scripting language for specifying arbitrary neural architectures, de¯nition ¯les for detailed spinal networks, various biologically realistic models of neurons, and dynamic synapses. Also included are structurally accurate models of intrafusal and extra-fusal muscle ¯bers and a general body...

  17. Neuronal survival in the brain: neuron type-specific mechanisms

    DEFF Research Database (Denmark)

    Pfisterer, Ulrich Gottfried; Khodosevich, Konstantin

    2017-01-01

    Neurogenic regions of mammalian brain produce many more neurons that will eventually survive and reach a mature stage. Developmental cell death affects both embryonically produced immature neurons and those immature neurons that are generated in regions of adult neurogenesis. Removal of substantial...... a particular neuron will die. To accommodate this signaling, immature neurons in the brain express a number of transmembrane factors as well as intracellular signaling molecules that will regulate the cell survival/death decision, and many of these factors cease being expressed upon neuronal maturation...... for survival in a certain brain region. This review focuses on how immature neurons survive during normal and impaired brain development, both in the embryonic/neonatal brain and in brain regions associated with adult neurogenesis, and emphasizes neuron type-specific mechanisms that help to survive for various...

  18. Juvenile cellulitis in a puppy – case reportsCelulite juvenil canina – relato de casos

    Directory of Open Access Journals (Sweden)

    Carlos Eduardo Fonseca-Alves

    2012-08-01

    Full Text Available Juvenile cellulitis or juvenile sterile granulomatous lymphadenitis is a rare disorder that affects puppies between three weeks to six months years old. Clinical signs include alopecia, edema, papules, pustules and crusts especially on eyelids. Definitive diagnosis requires cytological and histological evaluation and early and aggressive therapy is recommended, once scars after recovery can be severe .The choice treatment is the high dose of corticosteroids use such as prednisone. Three animals of canine species were attended at the Veterinary Hospital Clinical Small Animal Service presenting different clinical signs. Hemogram, skin lesions and submandibular lymph nodes cytological examination was collected and analyzed. The treatment was instituted, using cephalexin (22mg/kg, twice daily up to control of secondary bacterial infection, and prednisone (2mg/kg, once a day until clinical resolution. Complete cure was obtained at the end of treatment. The aim of this work is to report three clinical cases of juvenile cellulitis in dogs. A celulite juvenil ou linfadenite granulomatosa estéril juvenil, é um distúrbio raro que acomete filhotes com idade entre três semanas a seis meses. Os sinais clínicos incluem alopecia, edema, pápulas, pústulas e crostas especialmente em pálpebras. O diagnóstico definitivo requer exames citológico e histopatológico e a terapia precoce e agressiva é preconizada, pois as cicatrizes após recuperação podem ser graves. O tratamento de escolha consiste no uso de altas doses dos glicocorticoides, como prednisona. Foram atendidos no Hospital Veterinário, três animais da espécie canina, apresentando sinais clínicos variados. Foram realizados hemograma, exame citológico das lesões de pele e dos linfonodos submandibulares. O tratamento foi instituído, utilizando-se cefalexina na dose de 22 mg/kg, duas vezes ao dia, até controle de infecção bacteriana secundária e prednisona na dose de 2mg/kg, uma vez

  19. Dendritic spine density of prefrontal layer 6 pyramidal neurons in relation to apical dendrite sculpting by nicotinic acetylcholine receptors

    Directory of Open Access Journals (Sweden)

    Lily eKang

    2015-10-01

    Full Text Available Prefrontal layer 6 (L6 pyramidal neurons play an important role in the adult control of attention, facilitated by their strong activation by nicotinic acetylcholine receptors. These neurons in mouse association cortex are distinctive morphologically when compared to L6 neurons in primary cortical regions. Roughly equal proportions of the prefrontal L6 neurons have apical dendrites that are long (reaching to the pial surface versus short (terminating in the deep layers, as in primary cortical regions. This distinct prefrontal morphological pattern is established in the post-juvenile period and appears dependent on nicotinic receptors. Here, we examine dendritic spine densities in these two subgroups of prefrontal L6 pyramidal neurons under control conditions as well as after perturbation of nicotinic acetylcholine receptors. In control mice, the long neurons have significantly greater apical and basal dendritic spine density compared to the short neurons. Furthermore, manipulations of nicotinic receptors (chrna5 deletion or chronic developmental nicotine exposure have distinct effects on these two subgroups of L6 neurons: apical spine density is significantly reduced in long neurons, and basal spine density is significantly increased in short neurons. These changes appear dependent on the α5 nicotinic subunit encoded by chrna5. Overall, the two subgroups of prefrontal L6 neurons appear positioned to integrate information either across cortex (long neurons or within the deep layers (short neurons, and nicotinic perturbations differently alter spine density within each subgroup. Such changes have ramifications for adult executive function and possibly also for the morphological vulnerability of prefrontal cortex to subsequent stress exposure.

  20. Nanoresolution radiology of neurons

    Energy Technology Data Exchange (ETDEWEB)

    Wu, H.R.; Chen, S.T.; Chu, Y.S.; Conley, R.; Bouet, N.; Chien, C.C.; Chen, H.H.; Lin, C.H.; Tung, H.T.; Chen, Y.S.; Margaritondo, G.; Je, J.H.; Hwu, Y. (IP-Taiwan); (Ecole); (BNL); (POSTECH)

    2013-04-08

    We report recent advances in hard-x-ray optics - including record spatial resolution - and in staining techniques that enable synchrotron microradiology to produce neurobiology images of quality comparable to electron and visible microscopy. In addition, microradiology offers excellent penetration and effective three-dimensional detection as required for many neuron studies. Our tests include tomographic reconstruction based on projection image sets.

  1. New findings on neuron development

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    @@ A mature neuron receives inputs from multiple dendrites and sends its output to other neurons via a single axon.This polarized morphology requires proper axonal/dendritic differentiation during development.

  2. Exploring neuronal activity with photons

    Science.gov (United States)

    Bourdieu, Laurent; Léger, Jean-François

    2015-10-01

    The following sections are included: * Introduction * Information coding * Optical recordings of neuronal activity * Functional organization of the cortex at the level of a cortical column * Microarchitecture of a cortical column * Dynamics of neuronal populations * Outlook * Bibliography

  3. From the Bench -- Juvenile Courts: How and Why They Have Changed.

    Science.gov (United States)

    Van Nuys, Heather; Blitzman, Jay; Hibbler, William; Wakefield, Dana

    2000-01-01

    Offers four judges' perspectives on the various changes in the juvenile court system focusing on the increased violence among juveniles as having the greatest effect on the courts; includes issues such as juveniles being tried in adult courts, the need to improve juvenile courts, and the role of public interest. (CMK)

  4. Critical Factors in Mental Health Programming for Juveniles in Corrections Facilities

    Science.gov (United States)

    Underwood, Lee A.; Phillips, Annie; von Dresner, Kara; Knight, Pamela D.

    2006-01-01

    Juveniles with mental health and other specialized needs are overrepresented in the juvenile justice system, and while juvenile corrections have not historically provided standardized and evidence-based mental health services for its incarcerated youth, the demand is evident. The reality is that juveniles with serious mental illness are committed…

  5. Binary neuron with optical devices

    Science.gov (United States)

    Degeratu, Vasile; Degeratu, Ştefania; Şchiopu, Paul; Şchiopu, Carmen

    2009-01-01

    In this paper the authors present a model of binary neuron, a model of McCulloch-Pitts neuron with optical devices. This model of neuron can be implemented not only in the optic integrated circuits but also in the classic optical circuits it being cheap and immune not only into electromagnetic fields but also into any kind of radiation. The transfer speed of information through the neuron is very higher, it being limited only by the light speed from the received medium.

  6. Cholinergic Neurons Excite Cortically Projecting Basal Forebrain GABAergic Neurons

    Science.gov (United States)

    Yang, Chun; McKenna, James T.; Zant, Janneke C.; Winston, Stuart; Basheer, Radhika

    2014-01-01

    The basal forebrain (BF) plays an important role in the control of cortical activation and attention. Understanding the modulation of BF neuronal activity is a prerequisite to treat disorders of cortical activation involving BF dysfunction, such as Alzheimer's disease. Here we reveal the interaction between cholinergic neurons and cortically projecting BF GABAergic neurons using immunohistochemistry and whole-cell recordings in vitro. In GAD67-GFP knock-in mice, BF cholinergic (choline acetyltransferase-positive) neurons were intermingled with GABAergic (GFP+) neurons. Immunohistochemistry for the vesicular acetylcholine transporter showed that cholinergic fibers apposed putative cortically projecting GABAergic neurons containing parvalbumin (PV). In coronal BF slices from GAD67-GFP knock-in or PV-tdTomato mice, pharmacological activation of cholinergic receptors with bath application of carbachol increased the firing rate of large (>20 μm diameter) BF GFP+ and PV (tdTomato+) neurons, which exhibited the intrinsic membrane properties of cortically projecting neurons. The excitatory effect of carbachol was blocked by antagonists of M1 and M3 muscarinic receptors in two subpopulations of BF GABAergic neurons [large hyperpolarization-activated cation current (Ih) and small Ih, respectively]. Ion substitution experiments and reversal potential measurements suggested that the carbachol-induced inward current was mediated mainly by sodium-permeable cation channels. Carbachol also increased the frequency of spontaneous excitatory and inhibitory synaptic currents. Furthermore, optogenetic stimulation of cholinergic neurons/fibers caused a mecamylamine- and atropine-sensitive inward current in putative GABAergic neurons. Thus, cortically projecting, BF GABAergic/PV neurons are excited by neighboring BF and/or brainstem cholinergic neurons. Loss of cholinergic neurons in Alzheimer's disease may impair cortical activation, in part, through disfacilitation of BF cortically

  7. Setting a minimum age for juvenile justice jurisdiction in California.

    Science.gov (United States)

    S Barnert, Elizabeth; S Abrams, Laura; Maxson, Cheryl; Gase, Lauren; Soung, Patricia; Carroll, Paul; Bath, Eraka

    2017-03-13

    Purpose Despite the existence of minimum age laws for juvenile justice jurisdiction in 18 US states, California has no explicit law that protects children (i.e. youth less than 12 years old) from being processed in the juvenile justice system. In the absence of a minimum age law, California lags behind other states and international practice and standards. The paper aims to discuss these issues. Design/methodology/approach In this policy brief, academics across the University of California campuses examine current evidence, theory, and policy related to the minimum age of juvenile justice jurisdiction. Findings Existing evidence suggests that children lack the cognitive maturity to comprehend or benefit from formal juvenile justice processing, and diverting children from the system altogether is likely to be more beneficial for the child and for public safety. Research limitations/implications Based on current evidence and theory, the authors argue that minimum age legislation that protects children from contact with the juvenile justice system and treats them as children in need of services and support, rather than as delinquents or criminals, is an important policy goal for California and for other national and international jurisdictions lacking a minimum age law. Originality/value California has no law specifying a minimum age for juvenile justice jurisdiction, meaning that young children of any age can be processed in the juvenile justice system. This policy brief provides a rationale for a minimum age law in California and other states and jurisdictions without one.

  8. Maternal touch moderates sex differences in juvenile social play behavior.

    Directory of Open Access Journals (Sweden)

    Michelle N Edelmann

    Full Text Available Additional somatosensory contact of preterm human infants improves a variety of developmental assessment scores, but less is known about its lasting consequences. In rodents, maternal contact may influence the programming of juvenile social play behavior. Therefore, we used a paradigm where we can control the levels of somatosensory contact associated with maternal care. We find that additional somatosensory contact of offspring can have lasting consequences on juvenile social play behavior in a sex-dependent manner. Specifically, additional somatosensory stimuli reduced male social play behavior, but did not change female play behavior. We then examined if this additional infant contact altered some neurobiological substrates associated with play within the juvenile amygdala. Control males had lower levels of 5HT2a receptor mRNA levels contrasted to females; however, similar to its sex-dependent effect on juvenile social play, males that received additional somatosensory contact had higher serotonin 5HT2a receptor mRNA levels than control males. No difference was found in females. As serotonin signaling typically opposes juvenile play behavior, these data suggest that maternal touch can program lasting differences in juvenile social play and 5HT2a receptors mRNA levels within the juvenile amygdala.

  9. Maternal touch moderates sex differences in juvenile social play behavior.

    Science.gov (United States)

    Edelmann, Michelle N; Demers, Catherine H; Auger, Anthony P

    2013-01-01

    Additional somatosensory contact of preterm human infants improves a variety of developmental assessment scores, but less is known about its lasting consequences. In rodents, maternal contact may influence the programming of juvenile social play behavior. Therefore, we used a paradigm where we can control the levels of somatosensory contact associated with maternal care. We find that additional somatosensory contact of offspring can have lasting consequences on juvenile social play behavior in a sex-dependent manner. Specifically, additional somatosensory stimuli reduced male social play behavior, but did not change female play behavior. We then examined if this additional infant contact altered some neurobiological substrates associated with play within the juvenile amygdala. Control males had lower levels of 5HT2a receptor mRNA levels contrasted to females; however, similar to its sex-dependent effect on juvenile social play, males that received additional somatosensory contact had higher serotonin 5HT2a receptor mRNA levels than control males. No difference was found in females. As serotonin signaling typically opposes juvenile play behavior, these data suggest that maternal touch can program lasting differences in juvenile social play and 5HT2a receptors mRNA levels within the juvenile amygdala.

  10. Few juvenile auditory perceptual skills correlate with adult performance.

    Science.gov (United States)

    Sarro, Emma C; Sanes, Dan H

    2014-02-01

    Measures of human mental development suggest that behavioral skills displayed during early life can predict an individual's subsequent cognitive performance. Support for this draws from longitudinal studies that reveal compelling within-subject correlations during childhood. If this idea applies across the life span, then correlations in performance should persist into adulthood. Here, we address this prediction in juvenile and adult gerbils by evaluating within-subject measures of auditory learning and perception. Animals were trained and tested as juveniles on either an amplitude modulation (AM) or a frequency modulation (FM) detection task. Measures of learning and perception obtained from juveniles were then compared to similar measures obtained when each subject was tested in adulthood on either the same task or the untrained task. For animals trained and tested on the AM detection task as juveniles and adults, there was no correlation between juvenile and adult learning metrics, or perceptual sensitivity. For animals trained and tested on FM detection as juveniles, we observed a significant relationship to their adult performance. Juveniles that performed the best on FM detection were the poorest at AM detection, and the best at FM detection, when tested as adults. Thus, across-age correlations for sensory and cognitive measures, obtained during development and in adulthood, depend heavily on the specific type of developmental experience and the outcome measure.

  11. Effects of chronic forced swim stress on hippocampal brain-derived neutrophic factor (BDNF) and its receptor (TrkB) immunoreactive cells in juvenile and aged rats.

    Science.gov (United States)

    Badowska-Szalewska, Ewa; Spodnik, Edyta; Klejbor, Ilona; Morys, Janusz

    2010-01-01

    A type of stress stimulation and age are claimed to affect the expression of brain-derived neurotrophic factor (BDNF) and its receptor - tyrosine kinase B (TrkB) in the hippocampal regions differentially. This study aimed to explore the influence of chronic (15 min daily for 21 days) forced swim stress (FS) exposure on the BDNF and TrkB containing neurons in the hippocampal CA1, CA3 pyramidal cell layers and dentate gyrus (DG) granule cell layer in juvenile (P28) and aged (P360) rats. An immunofluorescence (-ir) method was used to detect BDNF-ir and TrkB-ir cells. Under chronic FS exposure, in the group of juvenile rats a significant decrease in the density of BDNF immunoreactive neurons was observed in CA1 and DG (P less than CA3, where it remained unaltered just as the density of TrkB-ir cells in CA1 and DG, but in CA3 the number of TrkB-ir cells was found to grow (P less than 0.05) in comparison with control groups. After chronic FS exposure of aged (P360) rats, the density of BDNF-ir and TrkB-ir cells did not decline in any of the subregions of the hippocampus. In all subfields of the hippocampus, the denseness of BDNF-positive neurons was significantly higher in P360 stressed group, compared with P28 stressed group, but the density of TrkB-ir fell more markedly in P360 than in P28. In conclusion, chronic FS stress influenced the number of BDNF and TrkB immunoreactive neurons only in juvenile animals. The age of rats tested in the chronic forced swim test was a decisive factor determining changes in the density of BDNF-ir and TrkB-ir in the hippocampal structures.

  12. Neuronal substrate of eating disorders

    OpenAIRE

    Timofeeva, Elena; Calvez, Juliane

    2014-01-01

    Eating disorders are devastating and life-threatening psychiatric diseases. Although clinical and experimental investigations have significantly progressed in discovering the neuronal causes of eating disorders, the exact neuronal and molecular mechanisms of the development and maintenance of these pathologies are not fully understood. The complexity of the neuronal substrate of eating disorders hampers progress in revealing the precise mechanisms. The present re...

  13. Offense related characteristics and psychosexual development of juvenile sex offenders

    Directory of Open Access Journals (Sweden)

    van Wijk Anton PH

    2009-07-01

    Full Text Available Abstract Objective: This article reports on offense related characteristics and the psychosexual development in subgroups of juvenile sex offenders as measured by the Global Assessment Instrument for Juvenile Sex Offenders (GAIJSO. The predictive validity of these characteristics for persistent (sexual offensive behavior in subgroups of juvenile sex offenders was investigated. Methods: One hundred seventy four sex offenders (mean age 14.9 SD 1.4 referred by the police to the Dutch Child Protection Board were examined. Offense related characteristics were assessed by means of the GAIJSO and the BARO (a global assessment tool for juvenile delinquents, and criminal careers of the subjects were ascertained from official judicial records. Results: Serious need for comprehensive diagnostics were found on the domains sexual offense and psychosexual development in juvenile sex offenders, especially in the group of child molesters. These youngsters displayed more internalizing and (psychosexual developmental problems and their sexual offense was more alarming as compared to the other juvenile sex offender subgroups. Although one third of the juveniles had already committed one or more sex offenses prior to the index offense, at follow up (mean follow up period: 36 months SD 18 months almost no sexual recidivism was found (0.6% of the entire sample. However, a substantial proportion of the entire sample of juvenile sex offenders showed non-sexual (55.6% and violent recidivism (32.1%. Several predictors for a history of multiple sex offending and non-sexual recidivism were identified. Conclusion: This study revealed numerous problems in juvenile sex offenders. Assessment using the GAIJSO is helpful in order to identify indicators for extensive diagnostic assessment. In order to investigate the predictive validity for sexual reoffending a longer follow up period is necessary.

  14. Offense related characteristics and psychosexual development of juvenile sex offenders

    Science.gov (United States)

    Hart-Kerkhoffs, Lisette 't A; Doreleijers, Theo AH; Jansen, Lucres MC; van Wijk, Anton PH; Bullens, Ruud AR

    2009-01-01

    Objective: This article reports on offense related characteristics and the psychosexual development in subgroups of juvenile sex offenders as measured by the Global Assessment Instrument for Juvenile Sex Offenders (GAIJSO). The predictive validity of these characteristics for persistent (sexual) offensive behavior in subgroups of juvenile sex offenders was investigated. Methods: One hundred seventy four sex offenders (mean age 14.9 SD 1.4) referred by the police to the Dutch Child Protection Board were examined. Offense related characteristics were assessed by means of the GAIJSO and the BARO (a global assessment tool for juvenile delinquents), and criminal careers of the subjects were ascertained from official judicial records. Results: Serious need for comprehensive diagnostics were found on the domains sexual offense and psychosexual development in juvenile sex offenders, especially in the group of child molesters. These youngsters displayed more internalizing and (psychosexual) developmental problems and their sexual offense was more alarming as compared to the other juvenile sex offender subgroups. Although one third of the juveniles had already committed one or more sex offenses prior to the index offense, at follow up (mean follow up period: 36 months SD 18 months) almost no sexual recidivism was found (0.6% of the entire sample). However, a substantial proportion of the entire sample of juvenile sex offenders showed non-sexual (55.6%) and violent recidivism (32.1%). Several predictors for a history of multiple sex offending and non-sexual recidivism were identified. Conclusion: This study revealed numerous problems in juvenile sex offenders. Assessment using the GAIJSO is helpful in order to identify indicators for extensive diagnostic assessment. In order to investigate the predictive validity for sexual reoffending a longer follow up period is necessary. PMID:19594889

  15. Prospective Prediction of Juvenile Homicide/Attempted Homicide among Early-Onset Juvenile Offenders

    Science.gov (United States)

    Baglivio, Michael T.; Wolff, Kevin T.

    2017-01-01

    While homicide perpetrated by juveniles is a relatively rare occurrence, between 2010 and 2014, approximately 7%–8% of all murders involved a juvenile offender. Unfortunately, few studies have prospectively examined the predictors of homicide offending, with none examining first-time murder among a sample of adjudicated male and female youth. The current study employed data on 5908 juvenile offenders (70% male, 45% Black) first arrested at the age of 12 or younger to prospectively examine predictors of an arrest for homicide/attempted homicide by the age of 18. Among these early-onset offenders, males, Black youth, those living in households with family members with a history of mental illness, those engaging in self-mutilation, and those with elevated levels of anger/aggression (all measured by age 13) were more likely to be arrested for homicide/attempted homicide by age 18. These findings add to the scant scientific literature on the predictors of homicide, and illustrate potential avenues for intervention. PMID:28212340

  16. Prospective Prediction of Juvenile Homicide/Attempted Homicide among Early-Onset Juvenile Offenders

    Directory of Open Access Journals (Sweden)

    Michael T. Baglivio

    2017-02-01

    Full Text Available While homicide perpetrated by juveniles is a relatively rare occurrence, between 2010 and 2014, approximately 7%–8% of all murders involved a juvenile offender. Unfortunately, few studies have prospectively examined the predictors of homicide offending, with none examining first-time murder among a sample of adjudicated male and female youth. The current study employed data on 5908 juvenile offenders (70% male, 45% Black first arrested at the age of 12 or younger to prospectively examine predictors of an arrest for homicide/attempted homicide by the age of 18. Among these early-onset offenders, males, Black youth, those living in households with family members with a history of mental illness, those engaging in self-mutilation, and those with elevated levels of anger/aggression (all measured by age 13 were more likely to be arrested for homicide/attempted homicide by age 18. These findings add to the scant scientific literature on the predictors of homicide, and illustrate potential avenues for intervention.

  17. Examining Antisocial Behavioral Antecedents of Juvenile Sexual Offenders and Juvenile Non-Sexual Offenders.

    Science.gov (United States)

    McCuish, Evan C; Lussier, Patrick; Corrado, Raymond R

    2015-08-01

    In prospective longitudinal studies of juvenile offenders, the presence of multiple developmental pathways of antisocial behaviors has consistently been identified. An "antisocial" type of juvenile sex offender (JSO) has also been identified; however, whether antisocial JSOs follow different antisocial pathways has not been examined. In the current study, differences in antisocial pathways within JSOs and between JSOs and juvenile non-sex offenders (JNSOs) were examined. Data on Canadian male incarcerated adolescent offenders were used to identify whether behavioral antecedents differed within JSOs and between JSOs (n = 51) and JNSOs (n = 94). Using latent class analysis (LCA), three behavioral groups were identified. For both JSOs and JNSOs, there was a Low Antisocial, Overt, and Covert group. Overall, there were important within-group differences in the behavioral patterns of JSOs, but these differences resembled differences in the behavioral patterns of their JNSO counterpart. Risk factors including offense history, abuse history, and family history were more strongly associated with the Overt and Covert groups compared with the Low Antisocial group. Implications for JSO assessment practices were discussed.

  18. A Rapid High-Resolution Melting Curve Method to Detect Genotypes of CLN6 Mice%一种快速检测CLN6模型小鼠基因型的方法——高分辨率熔解曲线分析法

    Institute of Scientific and Technical Information of China (English)

    许淼; 王娟; 龚秀丽; 蔡勤; 颜景斌; Nanbert Zhong; 曾凡一; 黄淑帧

    2012-01-01

    目的 建立利用高分辨率熔解曲线(HRM)分析快速鉴定CLN6(神经元蜡样脂褐质沉积症,ceroid-lipofuscinosis,neuronal 6)小鼠(Cln6基因移码突变)基因型的方法.方法 根据NCBI公布的小鼠cln6序列(NC 00075)设计HRM引物和测序引物,然后采用HRM技术获得高分辨熔解曲线鉴定实验小鼠基因型,同时通过直接测序法进行验证,评价其灵敏性和准确性.结果 181只实验小鼠经HRM检测,共有野生型11只、Cln6基因突变杂合子73只和纯合子97只,HRM结果和直接测序结果完全一致,准确性为100 %.结论 HRM方法检测DNA微小突变时具有操作简便、快速、灵敏,单管避免污染以及准确度高等优点,值得推广.%Objective To establish a rapid detection method to for genotype CLN 6 ( ceroid-li-pofuscinosis , neuronal 6) mice with high resolution melting curve (HRM) analysis. Methods According to published mouse Cln6 NCBI sequence (NC 00075) , HRM primers and sequencing primers were designed, then used to obtain high resolution melting curves identifying mouse genotypes by HRM technique. The sensitivity and accuracy of HRM results were verified by direct sequencing . Results Among 181 mice analyzed , 11 wild-type, 73 heterozygous and 97 homozygous for the Cln6 mutation were identified by HRM , which was completely consistent with direct sequencing . Conclusion Using HRM to detect small mutations in DNA is a simple , rapid, sensitive, accurate and sin gle-tube procedure that may decrease contamination.

  19. Rhythm dynamics of complex neuronal networks with mixed bursting neurons

    Institute of Scientific and Technical Information of China (English)

    Lü Yong-Bing; Shi Xia; Zheng Yan-Hong

    2013-01-01

    The spatiotemporal order and rhythm dynamics of a complex neuronal network with mixed bursting neurons are studied in this paper.A quantitative characteristic,the width factor,is introduced to describe the rhythm dynamics of an individual neuron,and the average width factor is used to characterize the rhythm dynamics of a neuronal network.An r parameter is introduced to denote the ratio of the short bursting neurons in the network.Then we investigate the effect of the ratio on the rhythm dynamics of the neuronal network.The critical value of r is derived,and the neurons in the network always remain short bursting when the r ratio is larger than the critical value.

  20. FINES Y DETERMINACIÓN DE LAS SANCIONES PENALES JUVENILES

    OpenAIRE

    Tiffer Sotomayor, Carlos

    2013-01-01

    El artículo refiere los contenidos sobre los fines y la determinación de las sanciones penales juveniles. Se inicia con el elemento caracterizador del modelo de justicia responsabilizador penal juvenil. Presenta el dilema entre la prevención general y la prevención especial y el rol que desempeña el principio educativo, como finalidad primordial. Se presentan los principales criterios que debe considerar un juez al momento de determinar una sanción penal juvenil.

  1. Entre champetuos, pupys y harcoretos: Identidades juveniles en santa marta

    Directory of Open Access Journals (Sweden)

    Jorge Giraldo

    2004-01-01

    Full Text Available Este artículo describe las principales articulaciones de las identidades juveniles en la ciudad de Santa Marta, en el Caribe colombiano. Para ello, contrasta las más relevantes figuras en el espectro de las experiencias y subjetividades juveniles en sus estrechas relaciones con diferentes géneros musicales. Se evidencia, entonces, que en las identidades juveniles se pueden diferenciar unas figuras hegemónicas (champetuo, pupy, yuquero de unas alternativas (harcoreto,electrónico.

  2. The case of juvenile polygraphy as a clinical ethics dilemma.

    Science.gov (United States)

    Chaffin, Mark

    2011-09-01

    Polygraph interrogations are used by half of all surveyed juvenile sex offender (JSO) treatment programs in the United States. This is a distinctive and controversial practice that is rarely if ever used with other juvenile delinquent populations, and that is rarely used or is banned from JSO treatment programs in other countries. Clinical polygraphy is an ethically sensitive issue because it involves mental health therapists in involuntary coercive interrogations of minors. This article reviews core mental health professional ethics principles for juveniles. JSO polygraphy is used as an illustrative issue for applying human rights principles to a practice in light of its benefits, risks, and available alternatives.

  3. Hypoglycemia and hemostatic parameters in juvenile-onset diabetes

    DEFF Research Database (Denmark)

    Hilsted, J; Madsbad, S; Nielsen, J D;

    1980-01-01

    Hypoglycemia was induced by intravenous infusion of insulin in six juvenile-onset diabetic subjects. Hemostatic parameters were assessed before insulin infusion and 0, 1, and 2 h after discontinuation of insulin infusion. The onset of hypoglycemia coincided with an enhancement of ADP-induced plat......Hypoglycemia was induced by intravenous infusion of insulin in six juvenile-onset diabetic subjects. Hemostatic parameters were assessed before insulin infusion and 0, 1, and 2 h after discontinuation of insulin infusion. The onset of hypoglycemia coincided with an enhancement of ADP...... potentially lead to intravascular coagulation in juvenile-onset diabetic patients....

  4. Features of trust in other people in juvenile offenders

    OpenAIRE

    Astanina N.B.

    2013-01-01

    The paper describes the results of a comparative study of trust in other people in juvenile offender and law-abiding teens. The study involved 113 young offenders (from detention center for juvenile offenders, special closed schools, juvenile correctional facilities of Voronezh and Lipetsk regions) and 106 law-abiding teens, 13 to 18 years old. We identified the types of trust in other people in the two groups of adolescents. We analyzed the specifics of trust in other people in the group of ...

  5. Alteraciones de la afectividad en delincuentes juveniles privados de libertad

    OpenAIRE

    Herrero Remuzgo, Salvador

    2002-01-01

    La delincuencia juvenil ha interesado al saber científico desde siempre, y son muchos los autores y escuelas de todos los ámbitos del conocimiento que han intentado dar explicaciones sobre el origen de dicho comportamiento desadaptado, sin embargo, parece claro que esta tareas no parece fácil pues en la delincuencia juvenil están implicados una multitud de factores que ... hacen muy compleja su explicación. Esta complejidad se agrava cuando intentamos estudiar al delincuente juvenil sometido ...

  6. Juvenile myelomonocytic leukemia presenting as bilateral breast masses

    Energy Technology Data Exchange (ETDEWEB)

    Edison, Michele N.; Letter, Haley P. [Florida Hospital, Department of Radiology, Orlando, FL (United States); University of Central Florida, College of Medicine, Orlando, FL (United States); O' Dell, M.C. [University of Central Florida, College of Medicine, Orlando, FL (United States); Children' s Hospital of Philadelphia, Pediatric Radiology, Philadelphia, PA (United States); Scherer, Kurt; Williams, Jennifer L. [Florida Hospital, Department of Radiology, Orlando, FL (United States); University of Central Florida, College of Medicine, Orlando, FL (United States); Florida State University, College of Medicine, Tallahassee, FL (United States)

    2017-01-15

    An 8-year-old girl presented with bilateral breast masses and was subsequently diagnosed with juvenile myelomonocytic leukemia. Juvenile myelomonocytic leukemia is a rare myelodysplastic syndrome that typically presents in boys younger than 3 years of age with splenomegaly, lymphadenopathy and skin findings. Bilateral breast masses in a child are rare and, as such, present a diagnostic dilemma due to the relative paucity of cases in the literature. We present a case of granulocytic sarcoma of the breasts in a patient with juvenile myelomonocytic leukemia. The authors hope that increased reporting and research regarding pediatric breast masses will help create awareness for such cases. (orig.)

  7. Caring for juveniles with mental disorders in adult corrections facilities.

    Science.gov (United States)

    Wills, Cheryl D

    2017-02-01

    Although juveniles have developmental, educational, healthcare, and rehabilitation needs that differ from adults, thousands of them have been confined in adult corrections facilities in the past 30 years. This manuscript will review how and why juveniles end up in adult corrections facilities, who they are, their rehabilitative needs, and how they differ from adults in corrections facilities and youths in the juvenile justice system. The importance of providing developmentally-informed mental health services to youths in adult corrections facilities is examined, along with barriers to traditional adolescent psychiatric practice. Recommendations for future directions in adolescent psychiatric care are presented.

  8. Mediation involving a juvenile perpetrators of criminal acts

    Directory of Open Access Journals (Sweden)

    Małgorzata Cwalina

    2012-12-01

    Full Text Available The article describes issues concerning mediatory proceedings regarding juvenile court cases in Poland. It was based on original master’s dissertation entitled “Mediation as a form of protection of the juvenile against stigma”. Mediation is most often defined as a voluntary attempt to resolve the conflict and to reach an agreement as it regards the compensation, in presence of impartial and neutral mediator. By contrast with court cases, mediation’s aim is not to point out who is right, but to find a solution of conflict, satisfactory to all parties. Fundamental aim of mediation within juvenile cases is educational and reformatory influence.

  9. Landmark learning by juvenile salamanders (Ambystoma maculatum).

    Science.gov (United States)

    Heuring, Whitney L; Mathis, Alicia

    2014-10-01

    Learning to use a landmark as a beacon to locate resources is one of the simplest forms of spatial learning. We tested whether landmark learning occurs in a semifossorial salamander that migrates annually to breeding ponds as adults. Juvenile spotted salamanders (Ambystoma maculatum) were tested in square containers with a plastic feeding dish in each corner, and a piece of earthworm was placed in one randomly-chosen dish. For landmark-trained salamanders, a rock was placed beside the dish containing the prey. For control salamanders, the rock was placed beside a randomly selected feeding dish. Each salamander was trained once every 2 days for 30 days. Significantly more landmark-trained salamanders than control salamanders entered the landmark area first, and landmark-trained individuals had faster latencies to enter the landmark area and longer stay-times. These results suggest that spotted salamanders are able to locate resources by associating their positions with landmarks.

  10. IMPACTUL PRESEI ASUPRA DELICVENŢEI JUVENILE

    Directory of Open Access Journals (Sweden)

    Gheorghe CIOBANU

    2015-11-01

    Full Text Available Lucrarea în cauză e un rezultat al unui studiu asupra schimbărilor comportamentale ale adolescenţilor, influenţate de unele materiale publicistice. Departe de intenţia de a reveni la cenzura de altădată, autorul pledează pentru o auto-cenzură, pentru o autoexigenţă în procesul de creaţie, pentru o responsabilitate sporită pentru cuvântul scris sau rostit.THE IMPACT OF MEDIA ON THE JUVENILE DELINQUENCYThis writing is a result of a study of teenager’s behavior changes influenced by journalistic work. The author is not militating for the past censorship, but he pleads for an autocensorship, for an auto exigency during the creation process, for a high responsibility for written word or for the spoken one.

  11. Marcadores de inmunorrespuesta en la periodontitis juvenil

    Directory of Open Access Journals (Sweden)

    Amparo Pérez Borrego,

    2002-12-01

    Full Text Available La periodontitis juvenil es una enfermedad del periodonto propia de adolescentes y adultos jóvenes, afecta principalmente los primeros molares y los incisivos y se caracteriza por la pérdida severa del hueso alveolar alrededor de dientes permanentes sin correspondencia entre la rapidez y severidad de la destrucción con los factores locales. En la causa de la enfermedad se citan factores genéticos, infecciosos e inmunológicos. Estudiamos algunos marcadores de inmunorrespuesta en 6 adolescentes que acudieron a nuestro servicio con el diagnóstico de periodontitis juvenil, además de su valoración clínica y radiológica. Ambos sexos se afectaron por igual, la movilidad dentaria y el sangramiento al sondeo fueron los hallazgos clínicos más relevantes y el índice de higiene bucal fue adecuado en todos los casos. No encontramos homogeneidad en las alteraciones inmunológicas, pero todos los pacientes estuvieron afectados en más de un marcador. Predominaron las alteraciones funcionales de linfocitos T en los estudios celulares. La hipogammaglobulinemia y la IgM elevada fueron las alteraciones más frecuentes en la inmunidad de anticuerpos. Se señala la dificultad que aún existe para explicar la patogenia de la enfermedad basándose solamente en un único factor de riesgo, así como la importancia de la valoración individual de cada enfermo.Juvenile periodontitis is a disease of the periodontium inherent to adolescents and young adults, affecting mainly the first molars and incisives and characterized by the severe loss of the alveolar bone sorrounding the permanent teeth with no correspondance between the celerity and severity of the destruction and the local factors. Genetic, infectious and immunological factors are considereed as the causes of the disease. Some immunoresponse markers were studied in 6 adolescents that were seen at our service with the diagnosis of juvenile periodontitis in addition to their clinical and radiological

  12. Representaciones sociales juveniles sobre la democracia

    Directory of Open Access Journals (Sweden)

    Álvaro Díaz Gómez

    2005-01-01

    Full Text Available El presente artículo da cuenta de una parte de los resultados obtenidos en la investigación “representaciones sociales juveniles sobre la democracia y la multiculturalidad”. Se desarrolló desde la perspectiva metodológica de la Investigación Acción Participante, proceso dentro del cual, se aplicó un cuestionario conformado por nueve preguntas, divididas en tres bloques temáticos que permitieron conocer las representaciones sociales de un grupo de veinticinco jóvenes, sobre la democracia –aspecto que se reporta en este texto– la ciudadanía y la multiculturalidad a partir de tres dimensiones: significado, vivencias y condiciones de la democracia.

  13. Anterior uveitis in juvenile rheumatoid arthritis.

    Science.gov (United States)

    Kanski, J J

    1977-10-01

    The ocular and systemic characteristics of 160 patients with anterior uveitis and seronegative juvenile rheumatoid arthritis are reviewed. Chronic uveitis occurred in 131 patients, 76% of whom were girls. Both eyes were involved in 70% of the cases. Band keratopathy occurred in 41% of the eyes, cataract in 42%, and secondary glaucoma in 19%. Only 11 patients had uveitis before the onset of arthritis. Notable correlations included a pauciarticular onset of arthritis in 95% of the patients, and positive tests for antinuclear antibody in 82%. Of 29 patients with acute anterior uveitis, 27 were boys. The inflammation responded well to therapy, and serious complications did not occur. At follow-up 21 patients had typical ankylosing spondylitis, and five had sacroiliitis. The incidence of positive results of tests for HLA-B27 antigen was 94%.

  14. Screening for uveitis in juvenile chronic arthritis.

    Science.gov (United States)

    Kanski, J J

    1989-03-01

    Three hundred and fifteen patients with anterior uveitis associated with juvenile chronic arthritis (JCA) were studied in order to identify the various risk factors for uveitis. Girls were more susceptible to uveitis than boys by a ratio of 3:1. In 94% of cases the uveitis was diagnosed after the development of arthritis. The risk of uveitis was small after seven or more years had elapsed from the onset of arthritis. Patients with pauciarticular onset JCA had the highest risk of uveitis and systemic onset patients the least risk. The presence of circulating antinuclear antibody was also an important marker for an increased risk of uveitis. A regimen for routine screening of patients is suggested.

  15. The Genomic Landscape of Juvenile Myelomonocytic Leukemia

    Science.gov (United States)

    Chang, Tiffany Y.; Gelston, Laura C.; Wang, Yong-Dong; Mazor, Tali; Esquivel, Emilio; Yu, Ariel; Seepo, Sara; Olsen, Scott; Rosenberg, Mara; Archambeault, Sophie L.; Abusin, Ghada; Beckman, Kyle; Brown, Patrick A.; Briones, Michael; Carcamo, Benjamin; Cooper, Todd; Dahl, Gary V.; Emanuel, Peter D.; Fluchel, Mark N.; Goyal, Rakesh K.; Hayashi, Robert J.; Hitzler, Johann; Hugge, Christopher; Liu, Y. Lucy; Messinger, Yoav H.; Mahoney, Donald H.; Monteleone, Philip; Nemecek, Eneida R.; Roehrs, Philip A.; Schore, Reuven J.; Stine, Kimo C.; Takemoto, Clifford M.; Toretsky, Jeffrey A.; Costello, Joseph F.; Olshen, Adam B.; Stewart, Chip; Li, Yongjin; Ma, Jing; Gerbing, Robert B.; Alonzo, Todd A.; Getz, Gad; Gruber, Tanja; Golub, Todd; Stegmaier, Kimberly; Loh, Mignon L.

    2015-01-01

    Juvenile myelomonocytic leukemia (JMML) is a myeloproliferative neoplasm (MPN) of childhood with a poor prognosis. Mutations in NF1, NRAS, KRAS, PTPN11 and CBL occur in 85% of patients, yet there are currently no risk stratification algorithms capable of predicting which patients will be refractory to conventional treatment and therefore be candidates for experimental therapies. In addition, there have been few other molecular pathways identified aside from the Ras/MAPK pathway to serve as the basis for such novel therapeutic strategies. We therefore sought to genomically characterize serial samples from patients at diagnosis through relapse and transformation to acute myeloid leukemia in order to expand our knowledge of the mutational spectrum in JMML. We identified recurrent mutations in genes involved in signal transduction, gene splicing, the polycomb repressive complex 2 (PRC2) and transcription. Importantly, the number of somatic alterations present at diagnosis appears to be the major determinant of outcome. PMID:26457647

  16. Clinical Orofacial Examination in Juvenile Idiopathic Arthritis

    DEFF Research Database (Denmark)

    Stoustrup, Peter; Twilt, Marinka; Spiegel, Lynn

    2017-01-01

    review. The level of evidence for the 5 recommendations was derived primarily from descriptive studies, such as cross-sectional and case-control studies. CONCLUSION: Five recommendations are proposed for the orofacial examination of patients with JIA to improve the clinical practice and aid standardized......OBJECTIVE: To develop international consensus-based recommendations for the orofacial examination of patients with juvenile idiopathic arthritis (JIA), for use in clinical practice and research. METHODS: Using a sequential phased approach, a multidisciplinary task force developed and evaluated...... a set of recommendations for the orofacial examination of patients with JIA. Phase 1: A Delphi survey was conducted among 40 expert physicians and dentists with the aim of identifying and ranking the importance of items for inclusion. Phase 2: The task force developed consensus about the domains...

  17. A case of juvenile hyaline fibromatosis.

    Science.gov (United States)

    Yayli, Savaş; Uncu, Sibel; Alpay, Köksal; Yildiz, Kadriye; Cimşit, Gülseren; Bahadir, Sevgi

    2006-04-01

    Juvenile hyaline fibromatosis (JHF) is a rare, autosomally-recessive disease characterized by papulonodular skin lesions, soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions. Its onset is in infancy or early childhood. The most commonly affected sites are the nose, chin, ears, scalp, back and knees. The accumulation of an amorphous, hyaline material is typical in the skin and the other organs. Herein, we report a 14-month-old boy who presented with confluent pink papules on the paranasal folds and the chin, and nodular lesions on the periauricular and perianal regions. He had gingival hypertrophy and contractures of the shoulders, knees and elbows. He also had third-degree consanguineous parents. Histopathological studies confirmed the diagnosis of JHF with the presence of increased numbers of fibroblasts embedded in a hyalinized connective tissue stroma.

  18. Juvenile xanthogranuloma of the proximal nail fold.

    Science.gov (United States)

    Piraccini, Bianca Maria; Fanti, Pier Alessandro; Iorizzo, Matilde; Tosti, Antonella

    2003-01-01

    An 18-month-old Caucasian boy presented with a firm 0.5 mm nodule, pink-red in color, with a yellow hue and some telangiectases on the surface, localized on the right thumbnail. The nodule involved all of the proximal nail fold and covered the proximal third of the nail. Pathology showed a dense dermal infiltrate of histiocytes, some of which had foamy nuclei, and multinucleated Touton giant cells. The lesion progressively decreased in size and had completely disappeared after 3 years. Periodic follow-up was important not only to monitor evolution of the juvenile xanthogranuloma, but also to avoid excessive growth of the lesion with possible definitive nail matrix damage.

  19. Juvenile myoclonic epilepsy: epidemiology, pathophysiology, and management.

    Science.gov (United States)

    Welty, Timothy E

    2006-01-01

    Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome that begins most frequently in the early teenage years. It is officially classified as a type of idiopathic generalized epilepsy and is often under-recognized or misdiagnosed. This syndrome has a strong genetic component with multiple gene mutations being associated with the clinical presentation. Based upon genetic associations, there may be multiple pathophysiologic mechanisms for the disorder; the pathophysiology has not been clearly defined. A diagnosis of JME is made using the clinical history and EEG findings. Valproic acid is the primary antiepileptic drug (AED) used for JME, but some newer AEDs may be effective alternatives. Selection of an appropriate AED is essential to the proper management of JME, because of the possibility of exacerbation of seizures by some AEDs and the adverse effect profiles of effective drugs. It is important for clinicians to understand JME to correctly diagnose and manage patients with this syndrome.

  20. Chemical Evolution of the Juvenile Universe

    CERN Document Server

    Wasserburg, G J

    2009-01-01

    Only massive stars contribute to the chemical evolution of the juvenile universe corresponding to [Fe/H]-0.32. Recent observations show that there are stars with [Sr/Fe]<-2 and [Fe/H]<-3. This proves that the two-component model is not correct and that a third component is necessary to explain the observations. This leads to a simple three-component model including low-mass and normal SNe II and hypernovae (HNe), which gives a good description of essentially all the data for stars with [Fe/H]<-1.5. We conclude that HNe are more important than normal SNe II in the chemical evolution of the low-A elements, in sharp distinction to earlier models. (Abridged)