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Sample records for causing familial hemiplegic

  1. Genetics Home Reference: familial hemiplegic migraine

    Science.gov (United States)

    ... Home Health Conditions familial hemiplegic migraine familial hemiplegic migraine Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Familial hemiplegic migraine is a form of migraine headache that runs ...

  2. Calcitonin gene-related peptide does not cause the familial hemiplegic migraine phenotype

    DEFF Research Database (Denmark)

    Hansen, J.M.; Thomsen, L.L.; Olesen, J.;

    2008-01-01

    .58). Headache severity and intensity were not different between the groups. Conclusions: Familial hemiplegic migraine ( FHM) patients do not show hypersensitivity of the calcitonin gene-related peptide (CGRP)-cyclic adenosine 3 ', 5 '-monophosphate pathway, as characteristically seen in migraine patients......Objective: The neuropeptide calcitonin gene-related peptide (CGRP) is a migraine trigger that plays a crucial role in migraine pathophysiology, and CGRP antagonism is efficient in the treatment of migraine attacks. Familial hemiplegic migraine (FHM) is a dominantly inherited subtype of migraine...... with aura associated with several gene mutations. FHM shares many phenotypical similarities with common types of migraine, indicating common neurobiological pathways. We tested the hypothesis that the FHM genotype confers a CGRP hypersensitive phenotype. Methods: We included 9 FHM patients with known...

  3. Calcitonin gene-related peptide does not cause migraine attacks in patients with familial hemiplegic migraine

    DEFF Research Database (Denmark)

    Hansen, Jakob M; Thomsen, Lise L; Olesen, Jes;

    2011-01-01

    Calcitonin gene-related peptide (CGRP) is a key molecule in migraine pathogenesis. Intravenous CGRP triggers migraine-like attacks in patients with migraine with aura and without aura. In contrast, patients with familial hemiplegic migraine (FHM) with known mutations did not report more migraine......-like attacks compared to controls. Whether CGRP triggers migraine-like attacks in FHM patients without known mutations is unknown....

  4. Familial hemiplegic migraine.

    Science.gov (United States)

    Hansen, Jakob Møller

    2010-09-01

    Familial hemiplegic migraine (FHM) is a rare, dominantly inherited subtype of migraine with aura, where hemiplegia occurs during the aura phase. Mutation screening of families with FHM has revealed a range of different mutations. The mutated FHM genes code for ion transport proteins. Animal and cellular studies have associated the mutated FHM genes with disturbed ion homeostasis, altered cellular excitability and altered neurotransmitter release. Abnormal cortical excitability due to dysfunctional ion-channels might facilitate cortical spreading depression (CSD) and thereby migraine aura and migraine headache. Genotyped FHM patients offer us the chance to study the interplay between genotype and phenotype and may be regarded as a genetic migraine model. FHM studies might open for a better understanding of the molecular migraine pathology, and potentially help to unravel the pathogenesis of the more common migraine forms. We have therefore studied genotyped FHM patients to understand the effect of genotype on the response to migraine provoking substances. We show here that two known migraine triggers failed to induce more migraine aura or migraine headache in FHM-patients than in healthy controls, thus indicating that the FHM genotype does not confer hypersensitivity to these migraine triggers. This has implications for our understanding of the headache mechanisms and raises the question whether FHM share neurobiological background with the common types of migraine. The aims of the present thesis were to test the hypothesis that FHM mutations might be associated with hypersensitivity to known migraine triggers and, thereby, share pathophysiological pathways with the common types of migraine, but our results disprove this hypothesis. Thus, FHM seems very different from MO and MA, both genetically and pathophysiologically. The fact that FHM genes regulate ion homeostasis cannot be extrapolated to the common types of migraine.

  5. Trigger factors for familial hemiplegic migraine

    DEFF Research Database (Denmark)

    Hansen, Jakob Møller; Hauge, Anne Werner; Ashina, Messoud;

    2011-01-01

    The aim was to identify and describe migraine trigger factors in patients with familial hemiplegic migraine (FHM) from a population-based sample.......The aim was to identify and describe migraine trigger factors in patients with familial hemiplegic migraine (FHM) from a population-based sample....

  6. Coexisting typical migraine in familial hemiplegic migraine

    DEFF Research Database (Denmark)

    Hansen, Jakob Møller; Olesen, Jes; Ashina, Messoud;

    2010-01-01

    In contrast to patients with migraine with aura (MA) and migraine without aura (MO), most patients with familial hemiplegic migraine (FHM) do not report migraine-like attacks after pharmacologic provocation with glyceryl trinitrate (GTN), a donor of nitric oxide. In the present study, we examined...... patients with FHM without known gene mutations and hypothesized that 1) GTN would cause more migraine-like attacks in patients with FHM compared to controls, and 2) GTN would cause more migraine attacks in patients with FHM with coexisting MA or MO compared to the pure FHM phenotype....

  7. Familial Hemiplegic Migraine and Spreading Depression

    Directory of Open Access Journals (Sweden)

    Hadi KAZEMI

    2014-07-01

    Full Text Available How to Cite This Article: Kazemi H, Speckmann EJ, Gorji A. Familial Hemiplegic Migraine and Spreading Depression. Iran J Child Neurol. 2014 Summer;8(3: 6-11. AbstractObjectiveFamilial hemiplegic migraine (FHM is an autosomal dominantly inherited subtype of migraine with aura, characterized by transient neurological signs and symptoms. Typical hemiplegic migraine attacks start in the first or second decade of life. Some patients with FHM suffer from daily recurrent attacks since childhood. Results from extensive studies of cellular and animal models have indicated that gene mutations in FHM increase neuronal excitability and reduce the threshold for spreading depression (SD. SD is a transient wave of profound neuronal and glial depolarization that slowly propagates throughout the brain tissue and is characterized by a high amplitude negative DC shift. After induction of SD, S218L mutant mice exhibited neurological signs highly reminiscent of clinical attacks in FHM type 1 patients carrying this mutation. FHM1 with ataxia is attributable to specific mutations that differ from mutations that cause pure FHM1 and have peculiar consequences on cerebellar Cav2.1 currents that lead to profound Purkinje cell dysfunction and neuronal loss with atrophy. SD in juvenile rats produced neuronal injury and death. Hormonal factors involved in FHM affect SD initiation and propagation. The data identify SD as a possible target of treatment of FHM. In addition, FHM is a useful model to explore the mechanisms of more common types of migraine. ReferencesRussell MB, Ducros A. Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management. Lancet Neurol 2011 (5:457-70.The International Classification of Headache Disorders, 3rd edition (beta version.Headache Classification Committee of the International Headache Society (IHS. Cephalalgia2013;33(9:629-808.Thomsen LL, Eriksen MK, Roemer SF

  8. Transcranial Doppler sonography in familial hemiplegic migraine

    Energy Technology Data Exchange (ETDEWEB)

    Pierelli, F.; Pauri, F.; Cupini, L.M.; Fiermonte, G.; Rizzo, P.A. (Universita la Sapienza, Roma (Italy))

    1991-02-01

    A patient affected by familial hemiplegic migraine underwent transcranial Doppler sonography twice: the first during a spontaneous attack with right hemiparesis and aphasia, the second during a headachefree period. During the attack the following haemodynamic changes were seen: (a) bilateral increase in the middle cerebral artery and anterior cerebral artery blood flow velocities (this increase was more pronounced on the left side), (b) decreased systo-diastolic ratio and pulsatility index on the right side, (c) increased systo-diastolic ratio and pulsatility index on the left side. The results indicate that during the attack in this familial hemiplegic migraine patient, a diffuse vasoconstriction of the basal cerebral arteries developed. Moreover, transcranial Doppler sonography data suggest that a prolonged vasoconstriction of the peripheral arterioles could play a role in determining the neurological symptoms in this syndrome. 13 refs., 1 figs., 1 tab.

  9. Genetic heterogeneity of familial hemiplegic migraine

    Energy Technology Data Exchange (ETDEWEB)

    Ophoff, R.A.; Van Eijk, R.; Sandkuijl, L.A. [Leiden Univ. (Netherlands)] [and others

    1994-07-01

    Familial hemiplegic migraine (FHM) is a distinctive form of migraine with an autosomal dominant mode of inheritance. The migraine-like attacks are associated with transient hemiparesis. A locus for FHM has recently been assigned to chromosome 19 by linkage mapping. In the present study, five unrelated pedigrees with multiple members suffering from hemiplegic migraine were investigated. In two of the pedigrees additional symptoms, cerebellar ataxia and benign neonatal convulsions, respectively, were observed in affected members. Three pedigrees showed linkage to loci D19S391, D19S221, and D19S226 at chromosome 19p13. Haplotyping suggested a location of a FHM gene between D19S391 and D19S221. In the two remaining families, evidence against linkage was found. These results confirm the localization of a gene for familial hemiplegic migraine to the short arm of chromosome 19, but locus heterogeneity not corresponding to the observed clinical heterogeneity is likely to exist. 19 refs., 3 figs., 3 tabs.

  10. Genetic heterogeneity of familial hemiplegic migraine

    Energy Technology Data Exchange (ETDEWEB)

    Joutel, A.; Ducros, A.; Delrieu, O.; Maziaceck, J.; Tournier-Lasserve, E. [INSERUM U25, Paris (France); Vahedi, K. [INSERUM U25, Paris (France)]|[Hopital St. Antoine (France); Bousser, M.G. [Hopital St. Antoine, Paris (France); Ponsot, G. [Hopital St. Vincent de Paul, Paris (France); Gouttiere, F. [Hopital Necker-Enfants Malades, Paris (France); Labauge, P. [Clinique Neurologique du C.H. et U. Montpellier-Nimes (France); Mancini, J. [Hopital de la Timone, Marseille (France)] [and others

    1994-12-01

    Familial hemiplegic migraine (FHM) is an autosomal dominant variety of migraine with aura. We previously mapped a gene for this disorder to the short arm of chromosome 19, within a 30-cM interval bracketed by D19S216 and D19S215. Linkage analysis conducted on two large pedigrees did not show any evidence of heterogeneity, despite their clinical differences due to the presence, in one family, of cerebellar ataxia and nystagmus. Herein we report linkage data on seven additional FHM families including another one with cerebellar ataxia. Analysis was conducted with a set of seven markers spanning the D19S216-D19S215 interval. Two-point and multipoint strong evidence for genetic heterogeneity. Strong evidence of linkage was obtained in two families and of absence of linkage in four families. The posterior probability of being of the linked type was >.95 in the first two families and <.01 in four other ones. It was not possible to draw any firm conclusion for the last family. Thus, within the nine families so far tested, four were linked, including those with associated cerebellar ataxia. We could not find any clinical difference between the pure FHM families regardless of whether they were linked. In addition to the demonstration of genetic heterogeneity of FHM, this study also allowed us to establish that the most likely location of the gene was within an interval of 12 cM between D19S413 and D19S226.

  11. Genetic heterogeneity of familial hemiplegic migraine

    Energy Technology Data Exchange (ETDEWEB)

    Joutel, A.; Ducros, A.; Vahedi, K. [Faculte de Medecine Necker-Enfants Malades, Paris (France)] [and others

    1994-09-01

    Familial hemiplegic migraine (FHM) is an autosomal dominant subtype of migraine with aura, characterized by the occurrence of a transient hemiplegia during the aura. We previously mapped the affected gene to the short arm of chromosome 19, within a 30 cM interval bracketed by D19S216 and D19S215. Linkage analysis conducted on 2 large FHM pedigrees did not show evidence of heterogeneity, despite their clinical differences due to the presence in one family of a cerebellar ataxia and a nystagmus. Herein we report linkage data on 9 additional FHM families including 2 other ones with cerebellar ataxia. Analysis was conducted with a set of 7 markers spanning the D19S216-D19S215 interval. Two point and multipoint lodscores analysis as well as HOMOG testing provided significant evidence for genetic heterogenity. Strong evidence of linkage was obtained in 3 families and absence of linkage in 6 families. Thus within the 11 families so far tested, 5 were linked, including those with an associated cerebellar ataxia. We could not find any clinical difference between the {open_quotes}pure{close_quotes} FHM families whether or not they were linked. This study also allowed us to establish that the most likely location of the gene is a 12 cM interval bracketed by D19S413 and D19S226. One of the unlinked family was large enough to conduct genetic mapping of the affected gene. Data will be presented at the meeting.

  12. Divergent sodium channel defects in familial hemiplegic migraine

    OpenAIRE

    Kahlig, Kristopher M.; Rhodes, Thomas H.; Pusch, Michael; Freilinger, Tobias; Pereira-Monteiro, José M.; Ferrari, Michel D; van den Maagdenberg, Arn M. J.M.; Dichgans, Martin; George, Alfred L.

    2008-01-01

    Familial hemiplegic migraine type 3 (FHM3) is a severe autosomal dominant migraine disorder caused by mutations in the voltage-gated sodium channel NaV1.1 encoded by SCN1A. We determined the functional consequences of three mutations linked to FHM3 (L263V, Q1489K, and L1649Q) in an effort to identify molecular defects that underlie this inherited migraine disorder. Only L263V and Q1489K generated quantifiable sodium currents when coexpressed in tsA201 cells with the human β1 and β2 accessory ...

  13. Serial MRI in a case of familial hemiplegic migraine

    Energy Technology Data Exchange (ETDEWEB)

    Butteriss, D.J.A.; Birchall, D. [Department of Neuroradiology, Regional Neurosciences Centre Newcastle General Hospital, Westgate Road, NE4 6BE, Newcastle upon Tyne (United Kingdom); Ramesh, V. [Department of Paediatric Neurology, Regional Neurosciences Centre Newcastle General Hospital, Westgate Road, NE4 6BE, Newcastle upon Tyne (United Kingdom)

    2003-05-01

    We report MRI findings in a patient with familial hemiplegic migraine (FHM) with repeated episodes of hemiparesis. FHM is caused by a penetrant autosomal dominant genetic mutation; several mutations have been genotyped, involving brain-expressed ion channels. We found cerebral oedema, dilatation of intracerebral vessels and decreased water diffusion contralateral to the hemiparesis, not respecting vascular territories, with subsequent complete resolution of both clinical and imaging abnormalities. These results are thought to be consistent with an underlying primary neuronal pathology with secondary vascular effects, as opposed to the traditional, primarily vascular, model of migraine aetiology. (orig.)

  14. ANDROGENIC SUPPRESSION OF SPREADING DEPRESSION IN FAMILIAL HEMIPLEGIC MIGRAINE TYPE 1 MUTANT MICE

    OpenAIRE

    Eikermann-Haerter, Katharina; Baum, Michael J.; Ferrari, Michel D.; Maagdenberg, Arn M. J. M. van den; MOSKOWITZ, MICHAEL A.; Ayata, Cenk

    2009-01-01

    Familial hemiplegic migraine type 1 (FHM1), a severe migraine with aura variant, is caused by mutations in the CACNA1A gene. Mutant mice carrying the FHM1 R192Q mutation exhibit increased propensity for cortical spreading depression (CSD), a propagating wave of neuroglial depolarization implicated in migraine aura. The CSD phenotype is stronger in female R192Q mutants and diminishes after ovariectomy. Here, we show that orchiectomy reciprocally increases CSD susceptibility in R192Q mutant mic...

  15. Cortical synaptic transmission in CaV2.1 knockin mice with the S218L missense mutation which causes a severe familial hemiplegic migraine syndrome in humans.

    Directory of Open Access Journals (Sweden)

    Dania eVecchia

    2015-02-01

    Full Text Available Familial hemiplegic migraine type 1 (FHM1 is caused by gain-of-function mutations in CaV2.1 (P/Q-type Ca2+ channels. Knockin (KI mice carrying the FHM1 R192Q missense mutation show enhanced cortical excitatory synaptic transmission at pyramidal cell synapses but unaltered cortical inhibitory neurotransmission at fast-spiking interneuron synapses. Enhanced cortical glutamate release was shown to cause the facilitation of cortical spreading depression (CSD in R192Q KI mice. It, however, remains unknown how other FHM1 mutations affect cortical synaptic transmission. Here, we studied neurotransmission in cortical neurons in microculture from KI mice carrying the S218L mutation, which causes a severe FHM syndrome in humans and an allele-dosage dependent facilitation of experimental CSD in KI mice, which is larger than that caused by the R192Q mutation. We show gain-of-function of excitatory neurotransmission, due to increased action-potential evoked Ca2+ influx and increased probability of glutamate release at pyramidal cell synapses, but unaltered inhibitory neurotransmission at multipolar interneuron synapses in S218L KI mice. In contrast with the larger gain-of-function of neuronal CaV2.1 current in homozygous than heterozygous S218L KI mice, the gain-of-function of evoked glutamate release, the paired-pulse ratio and the Ca2+ dependence of the EPSC were all similar in homozygous and heterozygous S218L KI mice, suggesting compensatory changes in the homozygous mice. Furthermore, we reveal a unique feature of S218L KI cortical synapses which is the presence of a fraction of mutant CaV2.1 channels being open at resting potential. Our data suggest that, while the gain-of-function of evoked glutamate release may explain the facilitation of CSD in heterozygous S218L KI mice, the further facilitation of CSD in homozygous S218L KI mice is due to other CaV2.1-dependent mechanisms, that likely include Ca2+ influx at voltages sub-threshold for action

  16. Abnormal cortical synaptic transmission in CaV2.1 knockin mice with the S218L missense mutation which causes a severe familial hemiplegic migraine syndrome in humans.

    Science.gov (United States)

    Vecchia, Dania; Tottene, Angelita; van den Maagdenberg, Arn M J M; Pietrobon, Daniela

    2015-01-01

    Familial hemiplegic migraine type 1 (FHM1) is caused by gain-of-function mutations in CaV2.1 (P/Q-type) Ca(2+) channels. Knockin (KI) mice carrying the FHM1 R192Q missense mutation show enhanced cortical excitatory synaptic transmission at pyramidal cell synapses but unaltered cortical inhibitory neurotransmission at fast-spiking interneuron synapses. Enhanced cortical glutamate release was shown to cause the facilitation of cortical spreading depression (CSD) in R192Q KI mice. It, however, remains unknown how other FHM1 mutations affect cortical synaptic transmission. Here, we studied neurotransmission in cortical neurons in microculture from KI mice carrying the S218L mutation, which causes a severe FHM syndrome in humans and an allele-dosage dependent facilitation of experimental CSD in KI mice, which is larger than that caused by the R192Q mutation. We show gain-of-function of excitatory neurotransmission, due to increased action-potential evoked Ca(2+) influx and increased probability of glutamate release at pyramidal cell synapses, but unaltered inhibitory neurotransmission at multipolar interneuron synapses in S218L KI mice. In contrast with the larger gain-of-function of neuronal CaV2.1 current in homozygous than heterozygous S218L KI mice, the gain-of-function of evoked glutamate release, the paired-pulse ratio and the Ca(2+) dependence of the excitatory postsynaptic current were similar in homozygous and heterozygous S218L KI mice, suggesting compensatory changes in the homozygous mice. Furthermore, we reveal a unique feature of S218L KI cortical synapses which is the presence of a fraction of mutant CaV2.1 channels being open at resting potential. Our data suggest that, while the gain-of-function of evoked glutamate release may explain the facilitation of CSD in heterozygous S218L KI mice, the further facilitation of CSD in homozygous S218L KI mice is due to other CaV2.1-dependent mechanisms, that likely include Ca(2+) influx at voltages sub

  17. Activity-Dependent Calcium, Oxygen, and Vascular Responses in a Mouse Model of Familial Hemiplegic Migraine Type 1

    DEFF Research Database (Denmark)

    Khennouf, Lila; Gesslein, Bodil; Lind, Barbara Lykke;

    2016-01-01

    Objective: Familial hemiplegic migraine type 1 (FHM1) is a subtype of migraine with aura caused by a gain-of-function mutation in the pore-forming α1 subunit of CaV2.1 (P/Q-type) calcium channels. However, the mechanisms underlying how the disease is brought about and the prolonged aura remain...... explain impaired neurovascular responses in the mutant, and these alterations could contribute to brain frailty in FHM1 patients...

  18. Familial Hemiplegic Migraine and Recurrent Episodes of Psychosis

    DEFF Research Database (Denmark)

    LaBianca, Sonja; Jensen, Rigmor; van den Maagdenberg, Arn M J M;

    2015-01-01

    and extended clinical examinations, which further worsened the psychoses. Since the episodes were recognized as related to the hemiplegic migraine, a treatment strategy combining sleep and sedation was initiated and progression onto psychosis was almost completely avoided in both father and son. Genetic...

  19. Habituation of evoked responses is greater in patients with familial hemiplegic migraine than in controls

    DEFF Research Database (Denmark)

    Hansen, Jakob Møller; Bolla, M; Magis, D;

    2011-01-01

    Familial hemiplegic migraine (FHM) is a rare, dominantly inherited subtype of migraine with transient hemiplegia during the aura phase. Mutations in at least three different genes can produce the FHM phenotype. The mutated FHM genes code for ion transport proteins that animal and cellular studies...

  20. Familial Hemiplegic Migraine Type 1 Associated with Parkinsonism: A Case Report

    Directory of Open Access Journals (Sweden)

    Marie Bruun

    2015-04-01

    Full Text Available Familial hemiplegic migraine type 1 (FHM1, episodic ataxia type 2 (EA2 and spinocerebellar ataxia type 6 (SCA6 are allelic disorders caused by mutations in the CACNA1A gene on chromosome 19p13. It is well described that FHM1 can present with cerebellar signs, but parkinsonism has not previously been reported in FHM1 or EA2 even though parkinsonism has been described in SCA6. We report a 63-year-old woman with FHM1 caused by an R583Q mutation in the CACNA1A gene, clinically presenting with migraine and permanent cerebellar ataxia. Since the age of 60 years, the patient also developed parkinsonism with rigidity, bradykinesia and a resting tremor. An MRI showed a normal substantia nigra, but a bilateral loss of substance in the basal ganglia, which is in contrast to the typically normal MRI in idiopathic Parkinson's disease. Dopamine transporter (DAT imaging with single-photon emission computed tomography demonstrated a decreased DAT-binding potential in the putamen. We wish to draw attention to FHM1 associated with parkinsonism; however, whether the reported case is a consequence of FHM1 being allelic to SCA6, unknown modifiers to the specific R583Q CACNA1A mutation or idiopathic Parkinson's disease remains unanswered.

  1. Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura

    NARCIS (Netherlands)

    A. May (Arne); R.A. Ophoff (Roel); G.M. Terwindt (Gisela); C. Urban; R. van Eijk (Ronald); J. Haan (Joost); H.C. Diener (Hans Christoph); D. Lindhout (Dick); R.R. Frants (Rune); L.A. Sandkuijl (Lodewijk); M.D. Ferrari (Michel)

    1995-01-01

    textabstractMigraine is a common neurological disease of two main types: migraine with aura and migraine without aura. Familial clustering suggests that genetic factors are involved in the etiology of migraine. Recently, a gene for familial hemiplegic migraine, a rare autosomal dominant subtype of m

  2. Habituation of evoked responses is greater in patients with familial hemiplegic migraine than in controls

    DEFF Research Database (Denmark)

    Hansen, Jakob Møller; Bolla, M; Magis, D;

    2011-01-01

    Familial hemiplegic migraine (FHM) is a rare, dominantly inherited subtype of migraine with transient hemiplegia during the aura phase. Mutations in at least three different genes can produce the FHM phenotype. The mutated FHM genes code for ion transport proteins that animal and cellular studies...... been attributed to neuronal dysexcitability. FHM and the common forms of migraine are thought to belong to a spectrum of migraine phenotypes with similar pathophysiology, and we therefore examined whether an abnormal habituation pattern would also be found in FHM patients....

  3. A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred.

    LENUS (Irish Health Repository)

    Fernandez, Desiree M

    2012-02-03

    OBJECTIVE: We studied a large Irish Caucasian pedigree with familial hemiplegic migraine (FHM) with the aim of finding the causative gene mutation. BACKGROUND: FHM is a rare autosomal-dominant subtype of migraine with aura, which is linked to 4 loci on chromosomes 19p13, 1q23, 2q24, and 1q31. The mutations responsible for hemiplegic migraine have been described in the CACNA1A gene (chromosome 19p13), ATP1A2 gene (chromosome 1q23), and SCN1A gene (chromosome 2q24). METHODS: We performed linkage analyses in this family for chromosome 1q23 and performed mutation analysis of the ATP1A2 gene. RESULTS: Linkage to the FHM2 locus on chromosome 1 was demonstrated. Mutation screening of the ATP1A2 gene revealed a G to C substitution in exon 22 resulting in a novel protein variant, D999H, which co-segregates with FHM within this pedigree and is absent in 50 unaffected individuals. This residue is also highly conserved across species. CONCLUSIONS: We propose that D999H is a novel FHM ATP1A2 mutation.

  4. Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation

    Directory of Open Access Journals (Sweden)

    E. Martínez

    2016-01-01

    Full Text Available Introduction. Familial hemiplegic migraine (FHM is a rare disorder characterized by migraine attacks with motor weakness during the aura phase. Mutations in CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been described. Methods. To describe a mutation in ATP1A2 gene in a FHM case with especially severe and prolonged symptomatology. Results. 22-year-old woman was admitted due to migraine-type headache and sudden onset of right-sided weakness and aphasia; she had similar episodes in her childhood. Her mother was diagnosed with hemiplegic migraine without genetic confirmation. She presented with fever, decreased consciousness, left gaze preference, mixed aphasia, right facial palsy, right hemiplegia, and left crural paresis. Computed tomography (CT showed no lesion and CT perfusion study evidenced oligohemia in left hemisphere. A normal brain magnetic resonance (MR was obtained. Impaired consciousness and dysphasia began to improve three days after admission and mild dysphasia and right hemiparesis lasted for 10 days. No recurrences were reported during a follow-up of two years. We identified a variant in heterozygous state in ATP1A2 gene (p.Thr364Met, pathogenic according to different prediction algorithms (SIFT, PolyPhen2, MutationTaster, and Condel. Conclusion. Prolonged and severe attacks with diffuse hypoperfusion in a FHM seemed to be specially related to ATP1A2 mutations, and p.T364M should be considered.

  5. Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation

    Science.gov (United States)

    Martínez, E.; Moreno, R.; López-Mesonero, L.; Vidriales, I.; Ruiz, M.; Tellería, J. J.

    2016-01-01

    Introduction. Familial hemiplegic migraine (FHM) is a rare disorder characterized by migraine attacks with motor weakness during the aura phase. Mutations in CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been described. Methods. To describe a mutation in ATP1A2 gene in a FHM case with especially severe and prolonged symptomatology. Results. 22-year-old woman was admitted due to migraine-type headache and sudden onset of right-sided weakness and aphasia; she had similar episodes in her childhood. Her mother was diagnosed with hemiplegic migraine without genetic confirmation. She presented with fever, decreased consciousness, left gaze preference, mixed aphasia, right facial palsy, right hemiplegia, and left crural paresis. Computed tomography (CT) showed no lesion and CT perfusion study evidenced oligohemia in left hemisphere. A normal brain magnetic resonance (MR) was obtained. Impaired consciousness and dysphasia began to improve three days after admission and mild dysphasia and right hemiparesis lasted for 10 days. No recurrences were reported during a follow-up of two years. We identified a variant in heterozygous state in ATP1A2 gene (p.Thr364Met), pathogenic according to different prediction algorithms (SIFT, PolyPhen2, MutationTaster, and Condel). Conclusion. Prolonged and severe attacks with diffuse hypoperfusion in a FHM seemed to be specially related to ATP1A2 mutations, and p.T364M should be considered.

  6. Familial hemiplegic migraine type 1 shows no hypersensitivity to nitric oxide

    DEFF Research Database (Denmark)

    Hansen, J.M.; Thomsen, L.L.; Olesen, J.;

    2008-01-01

    Familial hemiplegic migraine type 1 (FHM-1) is a dominantly inherited subtype of migraine with aura and transient hemiplegia associated with mutations in the CACNA1A gene. FHM-1 shares many phenotypical similarities with common types of migraine, indicating common neurobiological pathways....... Experimental studies have established that activation of the nitric oxide-cyclic guanosine monophosphate (NO-cGMP) pathway plays a crucial role in migraine pathophysiology. Therefore, we tested the hypothesis that CACNA1A mutations in patients with FHM-1 are associated with hypersensitivity to NO-cGMP pathway....... We included eight FHM-1 patients with R583Q and C1369Y mutations and nine healthy controls, who received intravenous infusions of 0.5 mu g kg(-1) min(-1) glyceryl trinitrate (GTN) over 20 min. We recorded: headache intensity on a verbal rating scale; mean flow velocity in the middle cerebral artery...

  7. Familial migraine: Exclusion of the susceptibility gene from the reported locus of familial hemiplegic migraine on 19p

    Energy Technology Data Exchange (ETDEWEB)

    Hovatta, I.; Peltonen, L. [National Public Health Institute, Helsinki (Finland); Kallela, M.; Faerkkilae, M. [Helsinki Univ. Central Hospital (Finland)

    1994-10-01

    Genetic isolates are highly useful in analyses of the molecular background of complex diseases since the enrichment of a limited number of predisposing genes can be predicted in representative families or in specific geographical regions. It has been suggested that the pathophysiology and etiology of familial hemiplegic migraine (FHM) and typical migraine with aura are most probably the same. Recent assignment of FHM locus to chromosome 19p in two French families makes it now possible to test this hypothesis. We report here linkage data on four families with multiple cases of migraine disorder originating from the genetically isolated population of Finland. We were interested to discover whether the migraine in these families would also show linkage to the markers on 19p. We could exclude a region of 50 cM, flanking the reported FHM locus, as a site of migraine locus in our four families. It seems evident that locus heterogeneity exists between different diagnostic classes of migraine spectrum of diseases and also between different ethnic groups. 10 refs., 2 figs., 1 tab.

  8. Hemiplegic migraine aura begins with cerebral hypoperfusion

    DEFF Research Database (Denmark)

    Hansen, Jakob M; Schytz, Henrik W; Larsen, Vibeke A;

    2011-01-01

    Imaging studies of spontaneous migraine aura have proved challenging because of the episodic and unpredictable nature of migraine attacks. Two patients with signs of acute ischemic stroke were evaluated for thrombolysis and turned out to suffer from familial hemiplegic migraine. It was possible...... to record the early phase of the hemiplegic aura with computed tomography with perfusion sequences and magnetic resonance imaging. We found cerebral hypoperfusion in the relevant cortical areas within the first hour after onset of aura symptoms. This report supports the concept that migraine aura across...... the migraine spectrum is caused by similar mechanisms. In a setting with efficient cooperation between headache and stroke neurologists, thrombolysis centers provide the set-up and opportunity to record aura symptoms at an early phase. Furthermore, in the time of ready access to acute systemic thrombolysis...

  9. Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model.

    Science.gov (United States)

    Bøttger, Pernille; Glerup, Simon; Gesslein, Bodil; Illarionova, Nina B; Isaksen, Toke J; Heuck, Anders; Clausen, Bettina H; Füchtbauer, Ernst-Martin; Gramsbergen, Jan B; Gunnarson, Eli; Aperia, Anita; Lauritzen, Martin; Lambertsen, Kate L; Nissen, Poul; Lykke-Hartmann, Karin

    2016-01-01

    Migraine is a complex brain disorder, and understanding the complexity of this prevalent disease could improve quality of life for millions of people. Familial Hemiplegic Migraine type 2 (FHM2) is a subtype of migraine with aura and co-morbidities like epilepsy/seizures, cognitive impairments and psychiatric manifestations, such as obsessive-compulsive disorder (OCD). FHM2 disease-mutations locate to the ATP1A2 gene encoding the astrocyte-located α2-isoform of the sodium-potassium pump (α2Na(+)/K(+)-ATPase). We show that knock-in mice heterozygous for the FHM2-associated G301R-mutation (α2(+/G301R)) phenocopy several FHM2-relevant disease traits e.g., by mimicking mood depression and OCD. In vitro studies showed impaired glutamate uptake in hippocampal mixed astrocyte-neuron cultures from α2(G301R/G301R) E17 embryonic mice, and moreover, induction of cortical spreading depression (CSD) resulted in reduced recovery in α2(+/G301R) male mice. Moreover, NMDA-type glutamate receptor antagonists or progestin-only treatment reverted specific α2(+/G301R) behavioral phenotypes. Our findings demonstrate that studies of an in vivo relevant FHM2 disease knock-in mouse model provide a link between the female sex hormone cycle and the glutamate system and a link to co-morbid psychiatric manifestations of FHM2. PMID:26911348

  10. Familial hemiplegic migraine type 2 does not share hypersensitivity to nitric oxide with common types of migraine

    DEFF Research Database (Denmark)

    Hansen, J.M.; Thomsen, L.L.; Marconi, R.;

    2008-01-01

    Familial hemiplegic migraine type 2 (FHM-2) and common types of migraine show phenotypic similarities which may indicate a common neurobiological background. The nitric oxide-cyclic guanosine monophosphate (NO-cGMP) pathway plays a crucial role in migraine pathophysiology. Therefore, we tested...... the hypothesis that ATP1A2 mutations in patients with FHM-2 are associated with hypersensitivity to NO-cGMP pathway. Eight FHM-2 patients with R202Q, R763C, V138A and L764P mutations and nine healthy controls received intravenous infusions of 0.5 mu g kg(-1) min(-1) glyceryl trinitrate (GTN) over 20 min. We...... and area under the curve (AUC) for headache score during an immediate phase (0-120 min) and a delayed phase (2-14 h) after start of infusion. We found no difference in the incidence of reported migraine between FHM-2 patients, 25% (two out of eight), and controls, 0% (0 out of nine) (95% confidence...

  11. Functional analysis of human Na~+/K~+-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes

    Institute of Scientific and Technical Information of China (English)

    Susan; Spiller; Thomas; Friedrich

    2014-01-01

    AIM: Functional characterization of ATP1A2 mutations that are related to familial or sporadic hemiplegic migraine(FHM2, SHM). METHODS: cRNA of human Na+/K+-ATPase α2- and β1-subunits were injected in Xenopus laevis oocytes. FHM2 or SHM mutations of residues located in putative α/β interaction sites or in the α2-subunit’s C-terminal region were investigated. Mutants were analyzed by the twoelectrode voltage-clamp(TEVC) technique on Xenopus oocytes. Stationary K+-induced Na+/K+ pump currents were measured, and the voltage dependence of apparent K+ affinity was investigated. Transient currents were recorded as ouabain-sensitive currents in Na+ buffers to analyze kinetics and voltage-dependent presteady state charge translocations. The expression of constructs was verified by preparation of plasma membrane and total membrane fractions of cRNA-injected oocytes. RESULTS: Compared to the wild-type enzyme, the mutants G900R and E902K showed no significant dif-ferences in the voltage dependence of K+-induced currents, and analysis of the transient currents indicated that the extracellular Na+ affinity was not affected. Mutant G855R showed no pump activity detectable by TEVC. Also for L994del and Y1009X, pump currents could not be recorded. Analysis of the plasma and total membrane fractions showed that the expressed proteins were not or only minimally targeted to the plasma membrane. Whereas the mutation K1003E had no impact on K+ interaction, D999H affected the voltage dependence of K+-induced currents. Furthermore, kinetics of the transient currents was altered compared to the wild-type enzyme, and the apparent affinity for extracellular Na+ was reduced. CONCLUSION: The investigated FHM2/SHM mutations influence protein function differently depending on the structural impact of the mutated residue.

  12. Synaptic gain-of-function effects of mutant Cav2.1 channels in a mouse model of familial hemiplegic migraine are due to increased basal [Ca2+]i

    NARCIS (Netherlands)

    M.N. Di Guilmi (Mariano); T. Wang (Teng); C.G. Inchauspe (Carlota Gonzalez); I.D. Forsythe (Ian); M.D. Ferrari (Michel); A.M.J.M. van der Maagdenberg (Arn M. J.); J.G.G. Borst (Gerard); O.D. Uchitel (Osvaldo)

    2014-01-01

    textabstractSpecific missense mutations in the CACNA1A gene, which encodes a subunit of voltage-gated CaV2.1 channels, are associated with familial hemiplegic migraine type 1 (FHM1), a rare monogenic subtype of common migraine with aura. We used transgenic knock-in (KI) mice harboring the human path

  13. Familial hemiplegic migraine type-1 mutated cav2.1 calcium channels alter inhibitory and excitatory synaptic transmission in the lateral superior olive of mice.

    Science.gov (United States)

    Inchauspe, Carlota González; Pilati, Nadia; Di Guilmi, Mariano N; Urbano, Francisco J; Ferrari, Michel D; van den Maagdenberg, Arn M J M; Forsythe, Ian D; Uchitel, Osvaldo D

    2015-01-01

    CaV2.1 Ca(2+) channels play a key role in triggering neurotransmitter release and mediating synaptic transmission. Familial hemiplegic migraine type-1 (FHM-1) is caused by missense mutations in the CACNA1A gene that encodes the α1A pore-forming subunit of CaV2.1 Ca(2+) channels. We used knock-in (KI) transgenic mice harbouring the pathogenic FHM-1 mutation R192Q to study inhibitory and excitatory neurotransmission in the principle neurons of the lateral superior olive (LSO) in the auditory brainstem. We tested if the R192Q FHM-1 mutation differentially affects excitatory and inhibitory synaptic transmission, disturbing the normal balance between excitation and inhibition in this nucleus. Whole cell patch-clamp was used to measure neurotransmitter elicited excitatory (EPSCs) and inhibitory (IPSCs) postsynaptic currents in wild-type (WT) and R192Q KI mice. Our results showed that the FHM-1 mutation in CaV2.1 channels has multiple effects. Evoked EPSC amplitudes were smaller whereas evoked and miniature IPSC amplitudes were larger in R192Q KI compared to WT mice. In addition, in R192Q KI mice, the release probability was enhanced compared to WT, at both inhibitory (0.53 ± 0.02 vs. 0.44 ± 0.01, P = 2.10(-5), Student's t-test) and excitatory synapses (0.60 ± 0.03 vs. 0.45 ± 0.02, P = 4 10(-6), Student's t-test). Vesicle pool size was diminished in R192Q KI mice compared to WT mice (68 ± 6 vs 91 ± 7, P = 0.008, inhibitory; 104 ± 13 vs 335 ± 30, P = 10(-6), excitatory, Student's t-test). R192Q KI mice present enhanced short-term plasticity. Repetitive stimulation of the afferent axons caused short-term depression (STD) of E/IPSCs that recovered significantly faster in R192Q KI mice compared to WT. This supports the hypothesis of a gain-of-function of the CaV2.1 channels in R192Q KI mice, which alters the balance of excitatory/inhibitory inputs and could also have implications in the altered cortical excitability responsible for FHM

  14. MRI findings in the painful hemiplegic shoulder

    Energy Technology Data Exchange (ETDEWEB)

    Tavora, D.G.F., E-mail: danielgurgel@sarah.b [Department of Radiology, Sarah Network of Hospitals for Rehabilitation, Fortaleza (Brazil); Gama, R.L.; Bomfim, R.C. [Department of Radiology, Sarah Network of Hospitals for Rehabilitation, Fortaleza (Brazil); Nakayama, M. [Department of Radiology, Federal University of Grande Dourados, Dourados (Brazil); Silva, C.E.P. [Department of Statistics, Sarah Network of Hospitals for Rehabilitation, Fortaleza (Brazil)

    2010-10-15

    Aim: To evaluate the magnetic resonance imaging (MRI) findings in painful hemiplegic shoulder (PHS) in hemiplegic post-stroke patients. Materials and methods: Patients with hemiplegia following their first cerebrovascular accident who were admitted to the Sarah Network of Hospitals for Rehabilitation were studied. Forty-five patients with pain in the hemiplegic shoulder and 23 post-stroke patients without shoulder pain were investigated. MRI and radiographic findings of the hemiplegic and contralateral asymptomatic shoulders were evaluated. Results: Some MRI findings were more frequent in PHS group, including synovial capsule thickening, synovial capsule enhancement, and enhancement in the rotator cuff interval. Conclusions: Adhesive capsulitis was found to be a possible cause of PHS.

  15. MRI findings in the painful hemiplegic shoulder

    International Nuclear Information System (INIS)

    Aim: To evaluate the magnetic resonance imaging (MRI) findings in painful hemiplegic shoulder (PHS) in hemiplegic post-stroke patients. Materials and methods: Patients with hemiplegia following their first cerebrovascular accident who were admitted to the Sarah Network of Hospitals for Rehabilitation were studied. Forty-five patients with pain in the hemiplegic shoulder and 23 post-stroke patients without shoulder pain were investigated. MRI and radiographic findings of the hemiplegic and contralateral asymptomatic shoulders were evaluated. Results: Some MRI findings were more frequent in PHS group, including synovial capsule thickening, synovial capsule enhancement, and enhancement in the rotator cuff interval. Conclusions: Adhesive capsulitis was found to be a possible cause of PHS.

  16. Focal ischaemia caused by instability of cerebrovascular tone during attacks of hemiplegic migraine. A regional cerebral blood flow study

    DEFF Research Database (Denmark)

    Friberg, L; Olsen, T S; Roland, P E;

    1987-01-01

    During the course of hemiplegic migraine in 3 patients, changes in regional cerebral blood flow (rCBF) were recorded by the intracarotid 133Xe method and a 254 multidetector camera covering one hemisphere. The rCBF measurements were performed in conjunction with cerebral angiography. During...... repeated rCBF measurements all 3 patients developed focal hypoperfusion originating in the frontal lobe, subsequently spreading posteriorly to involve the precentral and postcentral regions. In 2 cases focal hyperperfusion appeared to precede the hypoperfusion. In association with the rCBF changes...... the patients developed transient motor and/or sensory deficits and subsequently severe headache. No signs of arterial occlusion were found. In the over and underperfused regions blood flow fluctuated rapidly because of instability of cerebrovascular tone, defined as transient constriction of the smallest...

  17. Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine.

    Science.gov (United States)

    Kinder, S; Ossig, C; Wienecke, M; Beyer, A; von der Hagen, M; Storch, A; Smitka, M

    2015-01-01

    Episodic ataxia type 2 (EA2, MIM#108500) is the most common form of EA and an autosomal-dominant inherited disorder characterized by paroxysmal episodes of ataxia. The disease causative gene CACNA1A encodes for the alpha 1A subunit of the voltage-gated P/Q-type calcium channel. We report on a family with a novel mutation in the CACNA1A gene. The clinical symptoms within the family varied from the typical clinical presentation of EA2 with dysarthria, gait ataxia and oculomotor symptoms to migraine and dystonia. A novel nonsense mutation of the CACNA1A gene was identified in all affected family members and is most likely the disease causing molecular defect. The pharmacological treatment with acetazolamide (AAA) was successful in three family members so far. Treatment with AAA led to a reduction of migraine attacks and an improvement of the dystonia. This relationship confirmed the hypothesis that this novel mutation results in a heterogeneous phenotype and confutes the coincidence with common migraine. Dystonia is potentially included as a further part of the phenotype spectrum of CACNA1A gene mutations.

  18. Starring home adressed to the caregiver after a stroke hemiplegic

    OpenAIRE

    Ana María Díaz López; Patricia Guzmán Carrasco; Raquel Guzmán Carrasco; Noemí Bellido Blanco; Ángela Guzmán Carrasco

    2012-01-01

    The incidence of cerebrovascular disease in Spain ranges between 120 and 350 cases per 100.000 inhabitants. The incidence is lower in women (169/100.000) than men (183-364/100.000). It is the leading cause of death in Spain by specific entities in women and the third in men.The main complication, hemiplegic, resulting in functional sequelae, they are going to affect both the patient and the relatives with whom he lives (sometimes is a family trauma, because the patient may need constant care)...

  19. Hemiplegic migraine aura begins with cerebral hypoperfusion

    DEFF Research Database (Denmark)

    Hansen, Jakob M; Schytz, Henrik W; Larsen, Vibeke A;

    2011-01-01

    Imaging studies of spontaneous migraine aura have proved challenging because of the episodic and unpredictable nature of migraine attacks. Two patients with signs of acute ischemic stroke were evaluated for thrombolysis and turned out to suffer from familial hemiplegic migraine. It was possible...... to record the early phase of the hemiplegic aura with computed tomography with perfusion sequences and magnetic resonance imaging. We found cerebral hypoperfusion in the relevant cortical areas within the first hour after onset of aura symptoms. This report supports the concept that migraine aura across...... treatment, these cases underscore the importance of an accurate headache history, especially in younger patients....

  20. Genetics Home Reference: sporadic hemiplegic migraine

    Science.gov (United States)

    ... Home Health Conditions sporadic hemiplegic migraine sporadic hemiplegic migraine Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Sporadic hemiplegic migraine is a rare form of migraine headache. Migraines ...

  1. Synaptic Gain-of-Function Effects of Mutant Cav2.1 Channels in a Mouse Model of Familial Hemiplegic Migraine Are Due to Increased Basal [Ca2+]i

    OpenAIRE

    Di Guilmi, Mariano N.; Wang, Tiantian; Inchauspe, Carlota Gonzalez; Forsythe, Ian D; Ferrari, Michel D; van den Maagdenberg, Arn M. J. M.; Borst, J. Gerard G.; Uchitel, Osvaldo D.

    2014-01-01

    Specific missense mutations in the CACNA1A gene, which encodes a subunit of voltage-gated CaV2.1 channels, are associated with familial hemiplegic migraine type 1 (FHM1), a rare monogenic subtype of common migraine with aura. We used transgenic knock-in (KI) mice harboring the human pathogenic FHM1 mutation S218L to study presynaptic Ca2+ currents, EPSCs, and in vivo activity at the calyx of Held synapse. Whole-cell patch-clamp recordings of presynaptic terminals from S218L KI mice showed a s...

  2. Causes of death in familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Galle, T S; Juel, K; Bülow, S

    1999-01-01

    The prognosis in familial adenomatous polyposis (FAP) has improved over the past decades owing to a reduction in the prevalence of colorectal cancer, resulting from effective early screening. During the same period several polyposis registers have recorded an increasing number of deaths due to du...... to duodenal/periampullary cancer and desmoid tumours. The aim of this study was to examine the causes of death with special emphasis on duodenal/periampullary cancer....

  3. Sporadic hemiplegic migraine with permanent neurological deficits.

    Science.gov (United States)

    Schwedt, Todd J; Zhou, Jiying; Dodick, David W

    2014-01-01

    By definition, the neurologic impairments of hemiplegic migraine are reversible. However, a few cases of permanent neurologic deficits associated with hemiplegic migraine have been reported. Herein, we present the case of a patient with permanent impairments because of hemiplegic migraine despite normalization of associated brain magnetic resonance imaging abnormalities. Cases like these suggest the need to consider aggressive prophylactic therapy for patients with recurrent hemiplegic migraine attacks.

  4. Chronic constipation in hemiplegic patients

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    AIM: To assess the prevalence of bowel dysfunction in hemiplegic patients, and its relationship with the site of neurological lesion, physical immobilization and pharmacotherapy.METHODS: Ninety consecutive hemiplegic patients and 81 consecutive orthopedic patients were investigated during physical motor rehabilitation in the same period, in the same center and on the same diet. All subjects were interviewed ≥ 3 mo after injury using a questionnaire inquiring about bowel habits before injury and at the time of the interview. Patients' mobility was evaluated by the Adapted Patient Evaluation Conference System. Drugs considered for the analysis were nitrates, angiogenic converting enzyme (ACE) inhibitors,calcium antagonists, anticoagulants, antithrombotics,antidepressants, anti-epileptics.RESULTS: Mobility scores were similar in the two groups. De novo constipation (OR = 5.36) was a frequent outcome of the neurological accident.Hemiplegics showed an increased risk of straining at stool (OR: 4.33), reduced call to evacuate (OR: 4.13),sensation of incomplete evacuation (OR: 3.69), use of laxatives (OR: 3.75). Logistic regression model showed that constipation was significantly and independently associated with hemiplegia. A positive association was found between constipation and use of nitrates and antithrombotics in both groups. Constipation was not related to the site of brain injury.CONCLUSION: Chronic constipation is a possible outcome of cerebrovascular accidents occurring in 30% of neurologically stabilized hemiplegic patients.Its onset after a cerebrovascular accident appears to be independent from the injured brain hemisphere,and unrelated to physical inactivity. Pharmacological treatment with nitrates and antithrombotics may represent an independent risk factor for developing chronic constipation.

  5. Starring home adressed to the caregiver after a stroke hemiplegic

    Directory of Open Access Journals (Sweden)

    Ana María Díaz López

    2012-01-01

    Full Text Available The incidence of cerebrovascular disease in Spain ranges between 120 and 350 cases per 100.000 inhabitants. The incidence is lower in women (169/100.000 than men (183-364/100.000. It is the leading cause of death in Spain by specific entities in women and the third in men.The main complication, hemiplegic, resulting in functional sequelae, they are going to affect both the patient and the relatives with whom he lives (sometimes is a family trauma, because the patient may need constant care. The figure of the caregiver at these cases is important because the recovery period may be extended in time or even undefined.The objective of this protocol is to improve the caregiver labour so that adequate hygienic postural measures should be taken at home in order to prevent side effects such as pressure ulcers, stiffness or deformities that worsen the diagnosis and quality of life of the person affected.Finally, we may add that following these rules contributes to the functional improvement of these patients, since it provides propioceptive information, it raises awareness of body image, decrease the muscle hypertonus as well as it helps a good gait pattern and contributes to prevent the onset of shoulder pain which is so common in this disease.

  6. Loss of inhibition by brain natriuretic peptide over P2X3 receptors contributes to enhanced spike firing of trigeminal ganglion neurons in a mouse model of familial hemiplegic migraine type-1.

    Science.gov (United States)

    Marchenkova, Anna; van den Maagdenberg, Arn M J M; Nistri, Andrea

    2016-09-01

    Purinergic P2X3 receptors (P2X3Rs) play an important role in pain pathologies, including migraine. In trigeminal neurons, P2X3Rs are constitutively downregulated by endogenous brain natriuretic peptide (BNP). In a mouse knock-in (KI) model of familial hemiplegic migraine type-1 with upregulated calcium CaV2.1 channel function, trigeminal neurons exhibit hyperexcitability with gain-of-function of P2X3Rs and their deficient BNP-mediated inhibition. We studied whether the absent BNP-induced control over P2X3Rs activity in KI cultures may be functionally expressed in altered firing activity of KI trigeminal neurons. Patch-clamp experiments investigated the excitability of wild-type and KI trigeminal neurons induced by either current or agonists for P2X3Rs or transient receptor potential vanilloid-1 (TRPV1) receptors. Consistent with the constitutive inhibition of P2X3Rs by BNP, sustained pharmacological block of BNP receptors selectively enhanced P2X3R-mediated excitability of wild-type neurons without affecting firing evoked by the other protocols. This effect included increased number of action potentials, lower spike threshold and shift of the firing pattern distribution toward higher spiking activity. Thus, inactivation of BNP signaling transformed the wild-type excitability phenotype into the one typical for KI. BNP receptor block did not influence excitability of KI neurons in accordance with the lack of BNP-induced P2X3R modulation. Our study suggests that, in wild-type trigeminal neurons, negative control over P2X3Rs by the BNP pathway is translated into tonic suppression of P2X3Rs-mediated excitability. Lack of this inhibition in KI cultures results in a hyperexcitability phenotype and might contribute to facilitated trigeminal pain transduction relevant for migraine. PMID:27346147

  7. KITLG Mutations Cause Familial Progressive Hyper- and Hypopigmentation

    DEFF Research Database (Denmark)

    Amyere, Mustapha; Vogt, Thomas; Hoo, Joe;

    2011-01-01

    by familial café-au-lait spots and skin fold freckling, caused by mutations in SPRED1. We performed a genome-wide linkage analysis in seven families with FPHH, and identified linkage on 12q21.12-q22, which overlaps with the DUH2 locus. We investigated whether KITLG in the locus is mutated in FPHH. We...... discovered three different mutations in four families. A reported FPH substitution was observed in two FPHH families, and two, to our knowledge, previously unreported substitutions, p.Val33Ala and p.Thr34Pro, cosegregated with FPHH in two separate families. All three mutations were located in a conserved β......-strand in KITLG, suggesting its important role in the activation of the KITLG receptor c-Kit. In aggregate, mutations in a single gene cause various pigmentation disorders: FPH, FPHH, and likely DUH2. Therefore, KITLG is an important modulator of skin pigmentation.Journal of Investigative Dermatology advance...

  8. An altered GABA-A receptor function in spinocerebellar ataxia type 6 and familial hemiplegic migraine type 1 associated with the CACNA1A gene mutation

    Directory of Open Access Journals (Sweden)

    Satoshi Kono

    2014-12-01

    General significance: An altered GABA-A receptor function has previously been reported in models of inherited murine cerebellar ataxia caused by a mutation in the CACNA1A gene. This study showed novel clinical characteristics of alteration in the GABA-A receptor in vivo, which may provide clinical evidence indicating a pathological mechanism common to neurological disorders associated with CACNA1A gene mutation.

  9. Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease

    DEFF Research Database (Denmark)

    Toustrup-Jensen, Mads Schak; Einholm, Anja P.; Schack, Vivien;

    2014-01-01

    The neurological disorders familial hemiplegic migraine type 2 (FHM2), alternating hemiplegia of childhood (AHC), and rapid-onset dystonia parkinsonism (RDP) are caused by mutations of Na+,K+-ATPase α2 and α3 isoforms, expressed in glial and neuronal cells, respectively. Although these disorders...

  10. Familial gigantism caused by an NSD1 mutation.

    NARCIS (Netherlands)

    Haelst, M.M. van; Hoogeboom, J.J.; Baujat, G.; Bruggenwirth, H.T.; Laar, I. van de; Coleman, K.; Rahman, N.; Niermeijer, M.F.; Drop, S.L.; Scambler, P.J.

    2005-01-01

    A three-generation family with autosomal dominant segregation of a novel NSD1 mutation (6605G --> A, resulting in Cys2202Tyr) is reported. Haploinsufficiency of NSD1 has been identified as the major cause of Sotos syndrome. The overgrowth condition (MIM 117550) is characterized by facial anomalie

  11. A Neurocognitive Perspective on Developmental Disregard in Children with Hemiplegic Cerebral Palsy

    Science.gov (United States)

    Houwink, Annemieke; Aarts, Pauline B. M.; Geurts, Alexander C. H.; Steenbergen, Bert

    2011-01-01

    A common problem in children with hemiplegic cerebral palsy (CP) is the asymmetrical development of arm and hand capacity caused by the lack of use of the affected upper limb, or developmental disregard. In this paper, we provide a neuropsychological model that relates developmental disregard to attentional processes and motor learning. From this…

  12. Perfusion-weighted MR imaging in persistent hemiplegic migraine

    Energy Technology Data Exchange (ETDEWEB)

    Mourand, Isabelle; Menjot de Champfleur, Nicolas; Carra-Dalliere, Clarisse; Le Bars, Emmanuelle; Bonafe, Alain; Thouvenot, Eric [Hopital Gui de Chauliac, Service de Neuroradiologie, Montpellier (France); Roubertie, Agathe [Hopital Gui de Chauliac, Service de Neuropediatrie, Montpellier (France)

    2012-03-15

    Hemiplegic migraine is a rare type of migraine that has an aura characterized by the presence of motor weakness, which may occasionally last up to several days, and then resolve without sequela. Pathogenesis of migraine remains unclear and, recently, perfusion-weighted imaging (PWI) has provided a non-invasive method to study hemodynamic changes during acute attacks. Two female patients were admitted in our hospital suffering from prolonged hemiparesis. In both cases, they underwent MRI examination using a 1.5 T magnet including axial diffusion-weighted and perfusion sequences. From each perfusion MRI acquisition two regions of interest were delineated on each hemisphere and, the index of flow, cerebral blood volume, mean transit time, and time to peak were recorded and asymmetry indices from each perfusion parameter were calculated. Perfusion alterations were detected during the attacks. In one case, we observed, after 3 h of left hemiparesia, hypoperfusion of the right hemisphere. In the other case, who presented a familial hemiplegic migraine attack, on the third day of a persistent aura consisting of right hemiplegia and aphasia, PWI revealed hyperperfusion of the left hemisphere. Asymmetry indices for temporal parameters (mean transit time and time to peak) were the most sensitive. These findings resolved spontaneously after the attacks without any permanent sequel or signs of cerebral ischemia on follow-up MRI. PWI should be indicated for patients with migraine attacks accompanied by auras to assess the sequential changes in cerebral perfusion and to better understand its pathogenesis. (orig.)

  13. Functional bandage - a possible supporting resource for the rehabilitation of hemiplegic patients

    Directory of Open Access Journals (Sweden)

    Emilyn Borba da Silva

    2015-11-01

    Full Text Available Cerebral vascular accident (CVA is one of the main causes of neurological sequelae, presenting motor deficits such as hemiplegia. Motor deficits can cause loss of coordination and precision of movements necessary for a good functional performance in self-care, leisure and productivity activities, significantly changing one’s routine. Individuals affected by CVA suffer a rupture in their family, affective, social and professional relationships, with repercussions in their lifestyle. Several methods and techniques are used by occupational therapists in the rehabilitation of these individuals, such as the application of functional bandages, which are elastic bandages used in muscle and joint injuries. This research aimed to identify possible changes in occupational performance after the use of functional bandages in individuals suffering from hemiplegia as a consequence of stroke. It is a longitudinal, descriptive, exploratory study of quantitative approach on pre- and post-occupational therapy intervention. The results showed that taping contributed to increased range of motion and evolution of components and areas of occupational performance. We conclude that functional bandage is an important tool to be used as an adjuvant in occupational therapy in order to obtain positive results in the rehabilitation of hemiplegic patients affected by stroke.

  14. Hemiplegic Migraine Presenting with Prolonged Somnolence: A Case Report

    Directory of Open Access Journals (Sweden)

    Christian Saleh

    2016-10-01

    Full Text Available Hemiplegic migraine is a rare and complex disease, characterized by migraine with a reversible motor aura. Hemiplegic migraine can be easily misdiagnosed at its first presentation with an atypical severe form of migraine, a stroke, multiple sclerosis, metabolic disorders, conversion disorder or an epilepsy. We present the case of a young 24-year-old male patient, who since the age of 4 years had been having multiple episodes of migraine associated with hemiparesis, paraesthesia, prolonged somnolence, aphasia and confusion. We review the literature and discuss important diagnostic findings in hemiplegic migraine to help establishing a prompt diagnosis.

  15. Hemiplegic Migraine Presenting with Prolonged Somnolence: A Case Report

    Science.gov (United States)

    Saleh, Christian; Pierquin, Geneviève; Beyenburg, Stefan

    2016-01-01

    Hemiplegic migraine is a rare and complex disease, characterized by migraine with a reversible motor aura. Hemiplegic migraine can be easily misdiagnosed at its first presentation with an atypical severe form of migraine, a stroke, multiple sclerosis, metabolic disorders, conversion disorder or an epilepsy. We present the case of a young 24-year-old male patient, who since the age of 4 years had been having multiple episodes of migraine associated with hemiparesis, paraesthesia, prolonged somnolence, aphasia and confusion. We review the literature and discuss important diagnostic findings in hemiplegic migraine to help establishing a prompt diagnosis. PMID:27790126

  16. Modification of hemiplegic compensatory gait pattern by symmetry-based motion controller of HAL.

    Science.gov (United States)

    Kawamoto, Hiroaki; Kadone, Hideki; Sakurai, Takeru; Sankai, Yoshiyuki

    2015-01-01

    As one of several characteristics of hemiplegic patients after stroke, compensatory gait caused by affected limb is often seen. The purpose of this research is to apply a symmetry-based controller of a wearable type lower limb robot, Hybrid Assistive Limb (HAL) to hemiplegic patients with compensatory gait, and to investigate improvement of gait symmetry. The controller is designed respectively for swing phase and support phase according to characteristics of hemiplegic gait pattern. The controller during swing phase stores the motion of the unaffected limb and then provides motion support on the affected limb during the subsequent swing using the stored pattern to realize symmetric gait based on spontaneous limb swing. Moreover, the controller during support phase provides motion to extend hip and knee joints to support wearer's body. Clinical tests were conducted in order to assess the modification of gait symmetry. Our case study involved participation of one chronic stroke patient who performs abnormally-compensatory gait for both of the affected and unaffected limbs. As a result, the patient's gait symmetry was improved by providing motion support during the swing phase on the affected side and motion constraint during the support phase on the unaffected side. The study showed promising basis for the effectiveness of the controller for the future clinical study.

  17. Mutations in DEPDC5 cause Familial Focal Epilepsywith Variable Foci and are a common cause of familial non-lesional focal epilepsy

    NARCIS (Netherlands)

    Pandolfo, Massimo; Dibbens, Leanne; De Vries, Boukje; Donatello, Simona; Heron, Sarah; Hodgson, Bree; Chintawar, Satyan; Crompton, Douglas; Hughes, James; Bellows, Susannah; Klein, Karl Martin; Callenbach, Petra; Corbett, Mark; Gardner, Alison; Kivity, Sarah; Iona, Xenia; Regan, Brigid; Weller, Claudia; Crimmins, Denis; O'Brien, Terence; Guerrero-López, Rosa; Mulley, John; Dubeau, Francois; Licchetta, Laura; Bisulli, Francesca; Cossette, Patrick; Thomas, Paul; Gecz, Jozef; Serratosa, Jose; Brouwer, Oebele; Andermann, Frederick; Andermann, Eva; Van Den Maagdenberg, Arn; Berkovic, Samuel; Scheffer, Ingrid

    2013-01-01

    OBJECTIVE: To identify the genetic cause of autosomal dominant Familial Focal Epilepsy with Variable Foci (FFEVF), to investigate the prevalence of mutations in the FFEVF causative gene in familial cases of non-lesional focal epilepsy, to study the expression in the brain and the subcellular localiz

  18. NEW CONSUMPTION PATTERNS CAUSED BY CHANGES IN FAMILY COMPOSITION

    Directory of Open Access Journals (Sweden)

    Gílson de Lima Garófalo

    2014-12-01

    Full Text Available The idea of this contribution arose from observations in supermarkets, buildings with smaller apartments scattered throughout the large cities and the new family compositions. The work aims to verify the reasons for changes in consumption patterns, notoriously from the XXI century, the time of redistribution of income and consequently the reduction of inequality in Brazil. The access to goods and services by a middle class emerging from political and economic changes in the country showed the formation of a new archetype of consumption that is not only from the demands of modern life, but also from historical facts that can lead to behavioral changes, including different types of family compositions. Thus, by using a qualitative and quantitative methodology, with a theoretical basis accompanied by a field research with application of a specific questionnaire consistent with the research of family budgets, this work aimed to map the metamorphoses and understand the consequences for the economy of this whole context.

  19. NEW CONSUMPTION PATTERNS CAUSED BY CHANGES IN FAMILY COMPOSITION

    OpenAIRE

    Gílson de Lima Garófalo; Patrícia Emídio dos Santos

    2014-01-01

    The idea of this contribution arose from observations in supermarkets, buildings with smaller apartments scattered throughout the large cities and the new family compositions. The work aims to verify the reasons for changes in consumption patterns, notoriously from the XXI century, the time of redistribution of income and consequently the reduction of inequality in Brazil. The access to goods and services by a middle class emerging from political and economic changes in the country showed the...

  20. Irregular breakfast consumption in adolescence and the family environment: underlying causes by family structure.

    Science.gov (United States)

    Levin, Kate A; Kirby, Joanna

    2012-08-01

    Data from the 2002, 2006 and 2010 Scottish Health Behaviour in School-aged Children (HBSC) surveys were analysed using logistic multilevel regression for outcome variable irregular breakfast consumption (IBC). IBC prevalence in Scotland was higher among young people from reconstituted and single parent families, and particularly single father families. Family characteristics, found previously to be associated with breakfast consumption, such as number of siblings, perceived parenting, parental involvement and family affluence, differed by family structure. Family structure inequalities in IBC existed, also after adjustment for year and child's sex, age, grade and ethnicity. Across all family structures, IBC was more prevalent at the older age groups, among those who had difficult communication with their parents, and where household routines were infrequent. Greater number of siblings and lower family affluence were associated with higher odds of IBC in single mother and both parent families, while having a second home was associated with higher odds in reconstituted households. Fair parenting and being close to at least one parent was associated with reduced odds of IBC in single mother households, while being close to all parents was in single father households. In single mother homes, having a working mother was also positively associated with IBC. Family structure differences should be considered when addressing irregular breakfast consumption in adolescence. PMID:22446725

  1. Familial Dysautonomia Is Caused by Mutations of the IKAP Gene

    OpenAIRE

    Anderson, Sylvia L.; Coli, Rocco; Daly, Ira W.; Kichula, Elizabeth A.; Rork, Matthew J.; Volpi, Sabrina A.; Ekstein, Josef; Rubin, Berish Y.

    2001-01-01

    The defective gene DYS, which is responsible for familial dysautonomia (FD) and has been mapped to a 0.5-cM region on chromosome 9q31, has eluded identification. We identified and characterized the RNAs encoded by this region of chromosome 9 in cell lines derived from individuals homozygous for the major FD haplotype, and we observed that the RNA encoding the IκB kinase complex–associated protein (IKAP) lacks exon 20 and, as a result of a frameshift, encodes a truncated protein. Sequence anal...

  2. Are the cause(s) responsible for urban-rural differences in schizophrenia risk rooted in families or individuals?

    DEFF Research Database (Denmark)

    Pedersen, Carsten Bøcker; Mortensen, Preben Bo

    2006-01-01

    Many studies have identified urban-rural differences in schizophrenia risk. Hypothetical underlying cause(s) may include toxic exposures, diet, infections, and selective migration. The authors investigated whether the underlying cause(s) responsible for the urban-rural differences were rooted in ....... Some of the cause(s) responsible for the urban-rural differences in schizophrenia risk are rooted in families, but some might also be rooted in individuals.......Many studies have identified urban-rural differences in schizophrenia risk. Hypothetical underlying cause(s) may include toxic exposures, diet, infections, and selective migration. The authors investigated whether the underlying cause(s) responsible for the urban-rural differences were rooted...... in families or in individuals. Linking data from the Danish Civil Registration System and the Danish Psychiatric Central Register, a population-based cohort of 711,897 people aged 15 years or more was established. Overall, 2,720 persons developed schizophrenia during the period 1970-2001. The authors...

  3. Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies

    Science.gov (United States)

    Carreño, Oriel; Corominas, Roser; Serra, Selma Angèlica; Sintas, Cèlia; Fernández-Castillo, Noèlia; Vila-Pueyo, Marta; Toma, Claudio; Gené, Gemma G; Pons, Roser; Llaneza, Miguel; Sobrido, María-Jesús; Grinberg, Daniel; Valverde, Miguel Ángel; Fernández-Fernández, José Manuel; Macaya, Alfons; Cormand, Bru

    2013-01-01

    Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine, characterized by a complex aura including some degree of motor weakness. Mutations in four genes (CACNA1A, ATP1A2, SCN1A and PRRT2) have been detected in familial and in sporadic cases. This genetically and clinically heterogeneous disorder is often accompanied by permanent ataxia, epileptic seizures, mental retardation, and chronic progressive cerebellar atrophy. Here we report a mutation screening in the CACNA1A and ATP1A2 genes in 18 patients with HM. Furthermore, intragenic copy number variant (CNV) analysis was performed in CACNA1A using quantitative approaches. We identified four previously described missense CACNA1A mutations (p.Ser218Leu, p.Thr501Met, p.Arg583Gln, and p.Thr666Met) and two missense changes in the ATP1A2 gene, the previously described p.Ala606Thr and the novel variant p.Glu825Lys. No structural variants were found. This genetic screening allowed the identification of more than 30% of the disease alleles, all present in a heterozygous state. Functional consequences of the CACNA1A-p.Thr501Met mutation, previously described only in association with episodic ataxia, and ATP1A2-p.Glu825Lys, were investigated by means of electrophysiological studies, cell viability assays or Western blot analysis. Our data suggest that both these variants are disease-causing. PMID:24498617

  4. Gait analysis of children with spastic hemiplegic cerebral palsy

    Institute of Scientific and Technical Information of China (English)

    Xin Wang; Yuexi Wang

    2012-01-01

    An experiment was carried out in the key laboratory for Technique Diagnosis and Function Assessment of Winter Sports of China to investigate the differences in gait characteristics between healthy children and children with spastic hemiplegic cerebral palsy. With permission of their parents, 200 healthy children aged 3 to 6 years in the kindergarten of Northeastern University were enrolled in this experiment. Twenty children aged 3 to 6 years with spastic hemiplegic cerebral palsy from Shengjing Hospital, China were also enrolled in this experiment. Standard data were collected by simultaneously recording gait information from two digital cameras.DVracker was used to analyze the standard data. The children with hemiplegic cerebral palsy had a longer gait cycle, slower walking speed, and longer support phase than did the healthy children.The support phase was longer than the swing phase in the children with hemiplegic cerebral palsy. There were significant differences in the angles of the hip, knee, and ankle joint between children with cerebral palsy and healthy children at the moment of touching the ground and buff -ering, and during pedal extension. Children with hemiplegic cerebral palsy had poor motor coordination during walking, which basically resulted in a short stride, high stride frequency to maintain speed, more obvious swing, and poor stability.

  5. Robotic Mirror Therapy System for Functional Recovery of Hemiplegic Arms.

    Science.gov (United States)

    Beom, Jaewon; Koh, Sukgyu; Nam, Hyung Seok; Kim, Wonshik; Kim, Yoonjae; Seo, Han Gil; Oh, Byung-Mo; Chung, Sun Gun; Kim, Sungwan

    2016-08-15

    Mirror therapy has been performed as effective occupational therapy in a clinical setting for functional recovery of a hemiplegic arm after stroke. It is conducted by eliciting an illusion through use of a mirror as if the hemiplegic arm is moving in real-time while moving the healthy arm. It can facilitate brain neuroplasticity through activation of the sensorimotor cortex. However, conventional mirror therapy has a critical limitation in that the hemiplegic arm is not actually moving. Thus, we developed a real-time 2-axis mirror robot system as a simple add-on module for conventional mirror therapy using a closed feedback mechanism, which enables real-time movement of the hemiplegic arm. We used 3 Attitude and Heading Reference System sensors, 2 brushless DC motors for elbow and wrist joints, and exoskeletal frames. In a feasibility study on 6 healthy subjects, robotic mirror therapy was safe and feasible. We further selected tasks useful for activities of daily living training through feedback from rehabilitation doctors. A chronic stroke patient showed improvement in the Fugl-Meyer assessment scale and elbow flexor spasticity after a 2-week application of the mirror robot system. Robotic mirror therapy may enhance proprioceptive input to the sensory cortex, which is considered to be important in neuroplasticity and functional recovery of hemiplegic arms. The mirror robot system presented herein can be easily developed and utilized effectively to advance occupational therapy.

  6. Robotic Mirror Therapy System for Functional Recovery of Hemiplegic Arms.

    Science.gov (United States)

    Beom, Jaewon; Koh, Sukgyu; Nam, Hyung Seok; Kim, Wonshik; Kim, Yoonjae; Seo, Han Gil; Oh, Byung-Mo; Chung, Sun Gun; Kim, Sungwan

    2016-01-01

    Mirror therapy has been performed as effective occupational therapy in a clinical setting for functional recovery of a hemiplegic arm after stroke. It is conducted by eliciting an illusion through use of a mirror as if the hemiplegic arm is moving in real-time while moving the healthy arm. It can facilitate brain neuroplasticity through activation of the sensorimotor cortex. However, conventional mirror therapy has a critical limitation in that the hemiplegic arm is not actually moving. Thus, we developed a real-time 2-axis mirror robot system as a simple add-on module for conventional mirror therapy using a closed feedback mechanism, which enables real-time movement of the hemiplegic arm. We used 3 Attitude and Heading Reference System sensors, 2 brushless DC motors for elbow and wrist joints, and exoskeletal frames. In a feasibility study on 6 healthy subjects, robotic mirror therapy was safe and feasible. We further selected tasks useful for activities of daily living training through feedback from rehabilitation doctors. A chronic stroke patient showed improvement in the Fugl-Meyer assessment scale and elbow flexor spasticity after a 2-week application of the mirror robot system. Robotic mirror therapy may enhance proprioceptive input to the sensory cortex, which is considered to be important in neuroplasticity and functional recovery of hemiplegic arms. The mirror robot system presented herein can be easily developed and utilized effectively to advance occupational therapy. PMID:27583794

  7. Another family with acute vitamin D intoxication: another cause of familial hypercalcaemia.

    OpenAIRE

    Thomson, R B; Johnson, J K

    1986-01-01

    Acute vitamin D intoxication from an unknown source occurred in a family consisting of a grandmother, mother, father and four children aged 14, 11, 8 and 1 1/2 years old. The clinical presentation and response to treatment (which included a diphosphonate preparation and cholestyramine) are described.

  8. Pediatric hemiplegic migraine: susceptibility weighted and MR perfusion imaging abnormality

    Energy Technology Data Exchange (ETDEWEB)

    Altinok, Deniz; Agarwal, Ajay [Children' s Hospital of Michigan, Department of Radiology, Detroit, MI (United States); Ascadi, Gyula; Luat, Aimee; Tapos, Daniela [Children' s Hospital of Michigan, Department of Neurology, Detroit, MI (United States)

    2010-12-15

    We report on an 11-year-old girl suffering from a typical attack of hemiplegic migraine with characteristic abnormalities in perfusion MR and susceptibility-weighted MR imaging findings. The imaging abnormalities were resolved 48 h after the attack. Susceptibility-weighted MR imaging findings correlated well with the MR perfusion, thus it can be used along with conventional MRI for evaluation of children with complex migraine attacks. Susceptibility-weighted MR imaging might have a diagnostic role in assessing the vascular events in hemiplegic migraine. (orig.)

  9. A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family

    Directory of Open Access Journals (Sweden)

    Chen Yujie

    2010-02-01

    Full Text Available Abstract Background Several studies have shown that the clinical phenotypes of dentinogenesis imperfecta type II (DGI-II may be caused by mutations in dentin sialophosphoprotein (DSPP. However, no previous studies have documented the clinical phenotype and genetic basis of DGI-II in a Mongolian family from China. Methods We identified a large five-generation Mongolian family from China with DGI-II, comprising 64 living family members of whom 22 were affected. Linkage analysis of five polymorphic markers flanking DSPP gene was used to genotype the families and to construct the haplotypes of these families. All five DSPP exons including the intron-exon boundaries were PCR-amplified and sequenced in 48 members of this large family. Results All affected individuals showed discoloration and severe attrition of their teeth, with obliterated pulp chambers and without progressive high frequency hearing loss or skeletal abnormalities. No recombination was found at five polymorphic markers flanking DSPP in the family. Direct DNA sequencing identified a novel A→G transition mutation adjacent to the donor splicing site within intron 3 in all affected individuals but not in the unaffected family members and 50 unrelated Mongolian individuals. Conclusion This study identified a novel mutation (IVS3+3A→G in DSPP, which caused DGI-II in a large Mongolian family. This expands the spectrum of mutations leading to DGI-II.

  10. Arthur Simons (1877-1942) and Tonic Neck Reflexes With Hemiplegic "Mitbewegungen" (Associated Reactions): Cinematography From 1916-1919.

    Science.gov (United States)

    Holdorff, Bernd

    2016-01-01

    Tonic neck reflexes were investigated by Rudolf Magnus and Adriaan de Kleijn in animals and men in 1912 and eventually by Arthur Simons, a neurologist in Berlin and coworker of Hermann Oppenheim. Simons studied these reflexes in hemiplegic patients, who were mainly victims of World War I. This work became his most important contribution and remained unsurpassed for many years. The film (Filmarchiv, Bundesarchiv [Film Archive, National Archive] Berlin) with Simons as an examiner shows 11 war casualties with brain lesions that occurred between 1916 and 1919. The injuries reveal asymmetric neck reflexes with "Mitbewegungen," that is, flexion or extension on the hemiplegic side. Mitbewegungen is identical with Francis Walshe's "associated reactions" caused by neck rotation and/or by cocontraction of the nonaffected extremities, for example, by closing of the fist (Walshe). The knowledge of the neck reflexes is important in acute neurology and in rehabilitation therapy of hemiplegics for antispastic positions. Simons' investigations were conducted in the early era of increasing use of cinematography in medical studies. The film had been nearly forgotten until its rediscovery in 2010. PMID:26684424

  11. Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons

    OpenAIRE

    George, Lynn; Chaverra, Marta; Wolfe, Lindsey; Thorne, Julian; Close-Davis, Mattheson; Eibs, Amy; Riojas, Vickie; Grindeland, Andrea; Orr, Miranda; Carlson, George A; Lefcort, Frances

    2013-01-01

    Familial dysautonomia (FD) is a devastating developmental peripheral autonomic and sensory neuropathy caused by a mutation in the gene inhibitor of kappa B kinase complex-associated protein (IKBKAP). It is marked by tachycardia, blood pressure lability, autonomic vomiting “crises,” and decreased pain and temperature sensation. FD is progressive, and affected individuals commonly die during early adulthood. To identify the cellular and molecular mechanisms that cause FD, we generated a mouse m...

  12. The Lebanese mutation as an important cause of familial hypercholesterolemia in Brazil

    Directory of Open Access Journals (Sweden)

    Alberto F.L.

    1999-01-01

    Full Text Available Familial hypercholesterolemia (FH is a common autosomal disorder that affects about one in 500 individuals in most Western populations and is caused by a defect in the low-density-lipoprotein receptor (LDLr gene. In this report we determined the molecular basis of FH in 59 patients from 31 unrelated Brazilian families. All patients were screened for the Lebanese mutation, gross abnormalities of the LDLr gene, and the point mutation in the codon 3500 of the apolipoprotein B-100 gene. None of the 59 patients presented the apoB-3500 mutation, suggesting that familial defective ApoB-100 (FDB is not a major cause of inherited hypercholesterolemia in Brazil. A novel 4-kb deletion in the LDLr gene, spanning from intron 12 to intron 14, was characterized in one family. Both 5' and 3' breakpoint regions were located within Alu repetitive sequences, which are probably involved in the crossing over that generated this rearrangement. The Lebanese mutation was detected in 9 of the 31 families, always associated with Arab ancestry. Two different LDLr gene haplotypes were demonstrated in association with the Lebanese mutation. Our results suggest the importance of the Lebanese mutation as a cause of FH in Brazil and by analogy the same feature may be expected in other countries with a large Arab population, such as North American and Western European countries.

  13. A family with extrinsic allergic alveolitis caused by wild city pigeons: A case report

    NARCIS (Netherlands)

    G.J. du Marchie Sarvaas; P.J.F.M. Merkus (Peter); J.C. de Jongste (Johan)

    2000-01-01

    textabstractWe describe a family in which the mother died of unresolved lung disease and whose 5 children, some of whom had previous signs of asthma, were subsequently affected by extrinsic allergic alveolitis caused by contact with wild city pigeon antigens. The children received

  14. Familial T‐cell non‐Hodgkin lymphoma caused by biallelic MSH2 mutations

    OpenAIRE

    Scott, Richard H; Homfray, Tessa; Huxter, Nicola L; Mitton, Sally G; Nash, Ruth; Potter, Mike N; Lancaster, Donna; Rahman, Nazneen

    2007-01-01

    Familial non‐Hodgkin lymphoma (NHL) is rare and in most cases, no underlying cause is identifiable. We report homozygous truncating mutations in the mismatch repair gene MSH2 (226C→T; Q76X) in three siblings who each developed T‐cell NHL in early childhood. All three children had hyperpigmented and hypopigmented skin lesions.

  15. Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene.

    Directory of Open Access Journals (Sweden)

    Rocio Toro

    Full Text Available Dilated cardiomyopathy, a major cause of chronic heart failure and cardiac transplantation, is characterized by left ventricular or biventricular heart dilatation. In nearly 50% of cases the pathology is inherited, and more than 60 genes have been reported as disease-causing. However, in 30% of familial cases the mutation remains unidentified even after comprehensive genetic analysis. This study clinically and genetically assessed a large Spanish family affected by dilated cardiomyopathy to search for novel variations.Our study included a total of 100 family members. Clinical assessment was performed in alive, and genetic analysis was also performed in alive and 1 deceased relative. Genetic screening included resequencing of 55 genes associated with sudden cardiac death, and Sanger sequencing of main disease-associated genes. Genetic analysis identified a frame-shift variation in BAG3 (p.H243Tfr*64 in 32 patients. Genotype-phenotype correlation identified substantial heterogeneity in disease expression. Of 32 genetic carriers (one deceased, 21 relatives were clinically affected, and 10 were asymptomatic. Seventeen of the symptomatic genetic carriers exhibited proto-diastolic septal knock by echocardiographic assessment.We report p.H243Tfr*64_BAG3 as a novel pathogenic variation responsible for familial dilated cardiomyopathy. This variation correlates with a more severe phenotype of the disease, mainly in younger individuals. Genetic analysis in families, even asymptomatic individuals, enables early identification of individuals at risk and allows implementation of preventive measures.

  16. 高旸教授针刺治疗中风后偏瘫步态的学术经验%Academic Experience of Professor GAO Yang Who Uses Acupuncture to Treat Post Stroke Hemiplegic Gait

    Institute of Scientific and Technical Information of China (English)

    钱宇斐; 高旸; 梁永军

    2016-01-01

    Hemiplegic gait is one of the most common sequelae of stroke patients must face,it is the result of cerebrovascular accident within a certain area of the brain caused by organic changes,not only seriously affected the ability of the patient's daily life,but also to the patient's family and the community with to a heavy burden.Professor GAO Yang dedicates to the research of stroke more than 30years,in XNKQ on the basis of acupuncture,has founded by tendon needling row,the main intervention in patients with hemiplegic gait,while a lot of controlled clinical studies,the results of found that acupuncture combined with XNKQ tendons row after needling can more effectively improve the gait of stroke patients with hemiplegia.%偏瘫步态是中风病患者面临的最常见的后遗症之一,是脑血管意外致使大脑内一定区域器质性改变而造成的,不仅严重影响了患者的日常生活能力,也给患者家庭以及社会带来了沉重的负担.高旸教授致力于中风病的临床研究三十余年,在醒脑开窍针刺法的基础上,创立了经筋排刺法,主要干预患者的偏瘫步态,同时进行了大量的临床对照研究,结果发现醒脑开窍针刺法结合经筋排刺法可更有效改善中风后患者的偏瘫步态.

  17. Evaluation of postural stability in children with hemiplegic cerebral palsy

    Science.gov (United States)

    Kenis-Coskun, Ozge; Giray, Esra; Eren, Beyhan; Ozkok, Ozlem; Karadag-Saygi, Evrim

    2016-01-01

    [Purpose] Postural stability is the ability of to maintain the position of the body within the support area. This function is affected in cerebral palsy. The aim of the present study was to compare static and dynamic postural stability between children with hemiplegic cerebral palsy and healthy controls. [Subjects and Methods] Thirty-seven children between the ages of 5 and 14 diagnosed with hemiplegic cerebral palsy (19 right, 18 left) and 23 healthy gender- and age-matched controls were included in the study. Postural stability was evaluated in both of the groups using a Neurocom Balance. Sway velocity was measured both with the eyes open and closed. Sit to stand and turning abilities were also assessed. [Results] The sway velocities with the eyes open and closed were significantly different between the groups. The weight transfer time in the Sit to Stand test was also significantly slower in children with cerebral palsy. Children with cerebral palsy also showed slower turning times and greater sway velocities during the Step and Quick Turn test on a force plate compared with their healthy counterparts. [Conclusion] Both static and dynamic postural stability parameters are affected in hemiplegic cerebral palsy. Further research is needed to define rehabilitation interventions to improve these parameters in patients. PMID:27313338

  18. Deficits in the Ability to Use Proprioceptive Feedback in Children with Hemiplegic Cerebral Palsy

    Science.gov (United States)

    Goble, Daniel J.; Hurvitz, Edward A.; Brown, Susan H.

    2009-01-01

    Compared with motor impairment in children with hemiplegic cerebral palsy (CP), less attention has been paid to sensory feedback processing deficits. This includes, especially, proprioceptive information regarding arm position. This study examined the ability of children with hemiplegic CP to use proprioceptive feedback during a goal-directed…

  19. Musculoskeletal ultrasonographic findings of the affected and unaffected shoulders in hemiplegic patients

    Directory of Open Access Journals (Sweden)

    Fatma Ali

    2016-01-01

    Conclusion Hemiplegic stroke Results in injury to the affected shoulder and the shoulder on the unaffected side. Musculoskeletal ultrasonography is an essential method in the evaluation of poststroke painful hemiplegic shoulder. However, the US grades did not correlate with the stages of motor recovery.

  20. Familial gastric cancer: detection of a hereditary cause helps to understand its etiology

    Directory of Open Access Journals (Sweden)

    Vogelaar Ingrid P

    2012-12-01

    Full Text Available Abstract Worldwide, gastric cancer is one of the most common forms of cancer, with a high morbidity and mortality. Several environmental factors predispose to the development of gastric cancer, such as Helicobacter pylori infection, diet and smoking. Familial clustering of gastric cancer is seen in 10% of cases, and approximately 3% of gastric cancer cases arise in the setting of hereditary diffuse gastric cancer (HDGC. In families with HDGC, gastric cancer presents at relatively young age. Germline mutations in the CDH1 gene are the major cause of HDGC and are identified in approximately 25-50% of families which fulfill strict criteria. Prophylactic gastrectomy is the only option to prevent gastric cancer in individuals with a CDH1 mutation. However, in the majority of families with multiple cases of gastric cancer no germline genetic abnormality can be identified and therefore preventive measures are not available, except for general lifestyle advice. Future research should focus on identifying new genetic predisposing factors for all types of familial gastric cancer.

  1. Education and adult cause-specific mortality--examining the impact of family factors shared by 871 367 Norwegian siblings

    DEFF Research Database (Denmark)

    Næss, Oyvind; Hoff, Dominic A; Lawlor, Debbie;

    2012-01-01

    To estimate the impact family factors shared by siblings has on the association between length of education and cause-specific mortality in adulthood.......To estimate the impact family factors shared by siblings has on the association between length of education and cause-specific mortality in adulthood....

  2. The effects of "Constraint-Induced Movement Therapy" on fine motor skills in children with hemiplegic cerebral palsy

    Directory of Open Access Journals (Sweden)

    Abootalebi Sh

    2010-05-01

    Full Text Available "n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin:0cm; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Arial; mso-bidi-theme-font:minor-bidi;} Background: Constraint-Induced movement therapy (CIMT is a promising treatment for improving upper limb function in adults after stroke and traumatic brain injury. It involves constraint of the less affected limb and intensive practice with the more affected limb. The purpose of this study on children with hemiplegic cerebral palsy (CP was to evaluate the effects of CIMT on upper extremity and to make a comparison with conventional treatment."n"nMethods: I a randomized clinical trial twelve children (seven females, five males; aged between 48 and 72 months with mean±standard deviation of 59.91±9.15mo were randomly assigned in two groups. An intensive occupational therapy program including five hours per day for 21 consecutive days was performed for all of them, while less affected limbs were placed in sling for immobilization. Before and after intervention, upper extremity function, spasticity, and motor neuron excitation were evaluated by means of peabody developmental motor scales, modified Ashworth scale, and H reflex and H/M ratio, respectively."n"nResults: The children who received CIMT did not improved their ability to use their hemiplegic hand significantly more than the children in the control group (p>0

  3. Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred.

    OpenAIRE

    Haddad, L.; Day, I N; Hunt, S.; Williams, R R; Humphries, S E; Hopkins, P N

    1999-01-01

    Monogenically inherited hypercholesterolemia is most commonly caused by mutations at the low density lipoprotein receptor (LDLR) locus causing familial hypercholesterolemia (FH) or at the apolipoprotein B (APOB) locus causing the disorder familial defective apoB (FDB). Probands from 47 kindreds with a strict clinical diagnosis of FH were selected from the Cardiovascular Genetics Research Lipid Clinic, Utah, for molecular genetic analysis. Using a combination of single-strand conformation poly...

  4. Early intervention to improve hand function in hemiplegic cerebral palsy

    Directory of Open Access Journals (Sweden)

    Anna Purna Basu

    2015-01-01

    Full Text Available Children with hemiplegic cerebral palsy often have marked hand involvement with excessive thumb adduction and flexion and limited active wrist extension from infancy. Post-lesional aberrant plasticity can lead to progressive abnormalities of the developing motor system. Disturbances of somatosensory and visual function and developmental disregard contribute to difficulties with hand use. Progressive soft tissue and bony changes may occur, leading to contractures which further limit function in a vicious cycle. Early intervention might help to break this cycle: however, the precise nature and appropriateness of the intervention must be carefully considered. Traditional approaches to the hemiplegic upper limb include medications and botulinum toxin injections to manage abnormalities of tone, and surgical interventions. Therapist input, including provision of orthoses, remains a mainstay although many therapies have not been well evaluated. There has been a recent increase in interventions for the hemiplegic upper limb, mostly aimed outside the period of infancy. These include trials of constraint-induced movement therapy and bimanual therapy as well as the use of virtual reality and robot-assisted therapy. In future, non-invasive brain stimulation may be combined with therapy. Interventions under investigation in the infant age group include modified constraint-induced movement therapy and action observation therapy. A further approach which may be suited to the infant with thumb-in-palm deformity, but which requires evaluation, is the use of elastic taping. Enhanced cutaneous feedback through mechanical stimulation to the skin provided by the tape during movement has been postulated to modulate ongoing muscle activity. If effective, this would represent a low-cost, safe, widely applicable early intervention.

  5. Molecular analysis of the (CAGN repeat causing Huntington′s disease in 34 Iranian families

    Directory of Open Access Journals (Sweden)

    Hormozian F

    2004-01-01

    Full Text Available Huntington′s disease (HD is an inherited neurodegenerative disorder characterized by chorea and progressive dementia. The mutation causing the disease has been identified as an unstable expansion of a trinucleotide (CAG n at the 5′ end of the IT 15 gene on chromosome 4. We have analyzed the distribution of CAG repeats in 71 Iranian individuals (34 patients and 37 unaffected family members belonging to 31 unrelated families thought to segregate HD. We found one expanded CAG allele in 22 individuals (65% belonging to 21 unrelated families. In these HD patients, expanded alleles varied from 40 to 83 CAG units and normal alleles varied from 13 to 36 CAGs. A significant negative correlation between age at onset of symptoms and size of the expanded CAG allele was found (r= - 0.51; P=0. 1. In addition, we genotyped 25 unrelated control individuals (total of 50 alleles and found normal CAG repeats varying from 10 to 34 units. In conclusion, our results showed that molecular confirmation of the clinical diagnosis in HD should be sought in all suspected patients, making it possible for adequate genetic counseling. This Study is the first report of molecular diagnosis of Huntington disease among Iranian population and ever in Middle East and with regard to high frequency of consanguinity marriage in this region.

  6. A rare cause of hypercalcemia presenting with high parathormone levels: Familial hypocalciuric hypercalcemia

    Directory of Open Access Journals (Sweden)

    Okan Bakiner

    2013-08-01

    Full Text Available Familial Hypocalciuric Hypercalcemia is a generally benign disorder caused by heterozygous inactivating mutations in the Calcium-Sensing-Receptor gene resulting in altered calcium metabolism. It should be considered in differential diagnosis of primary hyperparathyroidism. Our case whom was diagnosed as toxic nodular goitre and primary hyperparathyroidism and suggested surgical treatment in another clinical center was evaluated in our out-patient clinic. Furosemid treatment which may affect calcium metabolism was stopped and medical therapy for hyperthyroidism was given. During follow-up the patient was considered as familial hypocalciuric hypercalcemia because of mild hypercalcemia, borderline elevated parathormone levels and significantly decreased daily urinary calcium excretion. The diagnosis was confirmed with the determination of similar laboratory findings for calcium metabolism in her children. In conclusion, evaluating the calcium metabolism after correcting the other factors and keeping familial hypocalciuric hypercalcemia in mind while diagnostic approach to hypercalcemia and differentially diagnosis of primary hyperparathyroidism may prevent unnecessary surgery. [Cukurova Med J 2013; 38(4.000: 765-769

  7. The Psychologic Treatment of the Hemiplegic Upper Limb%上肢偏瘫者康复治疗中的心理问题

    Institute of Scientific and Technical Information of China (English)

    张学斌

    2000-01-01

    偏瘫是许多神经系统疾病常见的功能障碍,偏瘫上肢的预后如何对ADL的恢复与改善和生活质量的高低有着决定性的意义。偏瘫上肢的功能恢复不仅涉及运动功能问题,而且还涉及心理问题,偏瘫上肢的心理问题除涵盖一般偏瘫病人的心理问题外,还因偏瘫上肢的功能障碍特点而有其特殊性。其中主要包括由于偏瘫上肢的运动功能恢复常较下肢缓慢,偏瘫上肢伴发的失认、失用,以及肩-手综合征等引起的心理问题,正确地处理好这些心理问题将有助于偏瘫者整体功能的恢复。%Hemiplegia is the common imparirment caused by many diseases of nerve system.The outcome of the hemiplegic upper limb plays and important role on the improvement of ADL and the level of QOL.The recovery of the hemiplegic upper limb diose not only involve the motional function,but,because of the speciality of its functional impairments,also involves the psychologic problem which mainly includes the slower recovery of he hemiplegic upper limb than the lower one,agnosia,apraxia and shoulder-hand syndrone.A proper treatment to these psychologic problems is helpful to the general recovery of the hemiplegic patients.

  8. Fractal dynamics of body motion in post-stroke hemiplegic patients during walking

    Science.gov (United States)

    Akay, M.; Sekine, M.; Tamura, T.; Higashi, Y.; Fujimoto, T.

    2004-06-01

    In this paper, we quantify the complexity of body motion during walking in post-stroke hemiplegic patients. The body motion of patients and healthy elderly subjects was measured by using the accelerometry technique. The complexity of body motion was quantified using the maximum likelihood estimator (MLE-) based fractal analysis methods. Our results suggest that the fractal dimensions of the body motion in post-stroke hemiplegic patients at several Brunnstrom stages were significantly higher than those of healthy elderly subjects (p hemiplegic patients, the fractal dimensions were more related to Brunnstrom stages.

  9. A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family.

    Science.gov (United States)

    Caridi, Gianluca; Gulec, Elif Yilmaz; Campagnoli, Monica; Lugani, Francesca; Onal, Hasan; Kilic, Duzgun; Galliano, Monica; Minchiotti, Lorenzo

    2016-01-01

    Congenital analbuminemia is an autosomal recessive disorder, in which albumin, the major blood protein, is present only in a minute amount. The condition is a rare allelic heterogeneous defect, only about seventy cases have been reported worldwide. To date, more than twenty different mutations within the albumin gene have been found to cause the trait. In our continuing study of the molecular genetics of congenital analbuminemia, we report here the clinical and biochemical findings and the mutation analysis of the gene in two Turkish infants. For the molecular analysis, we used our strategy, based on the screening of the gene by single-strand conformation polymorphism, heteroduplex analysis and direct DNA sequencing. The results showed that both patients are homozygous for the deletion of a cytosine residue in exon 5, in a stretch of four cytosines starting from nucleotide position 524 and ending at position 527 (NM_000477.5(ALB):c.527delC). The subsequent frame-shift inserts a stop codon in position 215, markedly reducing the size of the predicted protein product. The parents are both heterozygous for the same mutation, for which we propose the name Erzurum from the city of origin of the family. In conclusion, our results show that in this family congenital analbuminemia is caused by a novel frame-shift/deletion defect, confirm the inheritance of the trait, and contribute to advance our understanding of the molecular basis underlying this condition. PMID:27346974

  10. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

    DEFF Research Database (Denmark)

    Heinzen, Erin L; Swoboda, Kathryn J; Hitomi, Yuki;

    2012-01-01

    Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations. AHC is usually a sporadic disorder and has unknown etiology. We used exome sequencing of seven patients with AHC...... and their unaffected parents to identify de novo nonsynonymous mutations in ATP1A3 in all seven individuals. In a subsequent sequence analysis of ATP1A3 in 98 other patients with AHC, we found that ATP1A3 mutations were likely to be responsible for at least 74% of the cases; we also identified one inherited mutation...... in a case of familial AHC. Notably, most AHC cases are caused by one of seven recurrent ATP1A3 mutations, one of which was observed in 36 patients. Unlike ATP1A3 mutations that cause rapid-onset dystonia-parkinsonism, AHC-causing mutations in this gene caused consistent reductions in ATPase activity without...

  11. Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia.

    Science.gov (United States)

    Schumacher, Frances-Rose; Siew, Keith; Zhang, Jinwei; Johnson, Clare; Wood, Nicola; Cleary, Sarah E; Al Maskari, Raya S; Ferryman, James T; Hardege, Iris; Yasmin; Figg, Nichola L; Enchev, Radoslav; Knebel, Axel; O'Shaughnessy, Kevin M; Kurz, Thimo

    2015-10-01

    Deletion of exon 9 from Cullin-3 (CUL3, residues 403-459: CUL3(Δ403-459)) causes pseudohypoaldosteronism type IIE (PHA2E), a severe form of familial hyperkalaemia and hypertension (FHHt). CUL3 binds the RING protein RBX1 and various substrate adaptors to form Cullin-RING-ubiquitin-ligase complexes. Bound to KLHL3, CUL3-RBX1 ubiquitylates WNK kinases, promoting their ubiquitin-mediated proteasomal degradation. Since WNK kinases activate Na/Cl co-transporters to promote salt retention, CUL3 regulates blood pressure. Mutations in both KLHL3 and WNK kinases cause PHA2 by disrupting Cullin-RING-ligase formation. We report here that the PHA2E mutant, CUL3(Δ403-459), is severely compromised in its ability to ubiquitylate WNKs, possibly due to altered structural flexibility. Instead, CUL3(Δ403-459) auto-ubiquitylates and loses interaction with two important Cullin regulators: the COP9-signalosome and CAND1. A novel knock-in mouse model of CUL3(WT) (/Δ403-459) closely recapitulates the human PHA2E phenotype. These mice also show changes in the arterial pulse waveform, suggesting a vascular contribution to their hypertension not reported in previous FHHt models. These findings may explain the severity of the FHHt phenotype caused by CUL3 mutations compared to those reported in KLHL3 or WNK kinases. PMID:26286618

  12. Differences in proprioceptive senses between children with diplegic and children with hemiplegic cerebral palsy.

    Science.gov (United States)

    Ryu, Hyo Jeong; Song, Gui-Bin

    2016-01-01

    [Purpose] In the present study, in order to examine the differences in proprioceptive senses between children with diplegic CP and children with hemiplegic CP, neck reposition errors were measured. [Subjects and Methods] Head reposition senses were measured after neck flexion, extension, and left-right rotation, using head repositioning accuracy tests. These tests were done with 12 children with diplegic CP and nine children with hemiplegic CP. [Results] The results indicated that children with diplegic CP had poorer head repositioning senses after movements in all directions compared to children with hemiplegic CP. [Conclusion] The results indicated that children with diplegic CP had poorer head repositioning senses after movements in all directions as compared to children with hemiplegic CP.

  13. Differences in proprioceptive senses between children with diplegic and children with hemiplegic cerebral palsy

    Science.gov (United States)

    Ryu, Hyo Jeong; Song, Gui-bin

    2016-01-01

    [Purpose] In the present study, in order to examine the differences in proprioceptive senses between children with diplegic CP and children with hemiplegic CP, neck reposition errors were measured. [Subjects and Methods] Head reposition senses were measured after neck flexion, extension, and left-right rotation, using head repositioning accuracy tests. These tests were done with 12 children with diplegic CP and nine children with hemiplegic CP. [Results] The results indicated that children with diplegic CP had poorer head repositioning senses after movements in all directions compared to children with hemiplegic CP. [Conclusion] The results indicated that children with diplegic CP had poorer head repositioning senses after movements in all directions as compared to children with hemiplegic CP. PMID:27065559

  14. The effects of high custom made shoes on gait characteristics and patient satisfaction in hemiplegic gait

    NARCIS (Netherlands)

    Eckhardt, Martine M; Mulder, Mascha C Borgerhoff; Horemans, Herwin L; van der Woude, Lucas; Ribbers, Gerard M

    2011-01-01

    OBJECTIVE: To determine the effects of a temporary high custom made orthopaedic shoe on functional mobility, walking speed, and gait characteristics in hemiplegic stroke patients. In addition, interference of attentional demands and patient satisfaction were studied. DESIGN: Clinical experimental st

  15. The effects of high custom made shoes on gait characteristics and patient satisfaction in hemiplegic gait

    NARCIS (Netherlands)

    Eckhardt, Martine M.; Mulder, Mascha C. Borgerhoff; Horemans, Herwin L.; van der Woude, Luc H.; Ribbers, Gerard M.

    2011-01-01

    Objective: To determine the effects of a temporary high custom made orthopaedic shoe on functional mobility, walking speed, and gait characteristics in hemiplegic stroke patients. In addition, interference of attentional demands and patient satisfaction were studied. Design: Clinical experimental st

  16. Magnetic resonance angiography evidence of vasospasm in children with suspected acute hemiplegic migraine.

    Science.gov (United States)

    Safier, Robert; Cleves-Bayon, Catalina; Vaisleib, Inna; Siddiqui, Ali; Zuccoli, Giulio

    2014-06-01

    Hemiplegic migraine is a rare subtype of migraine that is differentiated by motor weakness in the aura phase. The purpose of this case series was to examine the magnetic resonance angiogram findings of patients suffering from suspected acute hemiplegic migraine. This was a retrospective institutional board review protocol study of 8 patients. All patients received full brain magnetic resonance imaging under a 1.5-T magnet. The scans were subsequently evaluated by a neuroradiologist and 2 neurologists who were blinded to the study. The magnetic resonance angiogram findings of this study showed the presence of vasospasm within the intracranial vasculature during suspected acute hemiplegic migraine. This case series suggests that routine use of magnetic resonance angiography might be beneficial in both managing patients with acute hemiplegic migraine and helping to further understand the pathophysiology of this complicated disease process.

  17. Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.

    Science.gov (United States)

    Freischmidt, Axel; Wieland, Thomas; Richter, Benjamin; Ruf, Wolfgang; Schaeffer, Veronique; Müller, Kathrin; Marroquin, Nicolai; Nordin, Frida; Hübers, Annemarie; Weydt, Patrick; Pinto, Susana; Press, Rayomond; Millecamps, Stéphanie; Molko, Nicolas; Bernard, Emilien; Desnuelle, Claude; Soriani, Marie-Hélène; Dorst, Johannes; Graf, Elisabeth; Nordström, Ulrika; Feiler, Marisa S; Putz, Stefan; Boeckers, Tobias M; Meyer, Thomas; Winkler, Andrea S; Winkelman, Juliane; de Carvalho, Mamede; Thal, Dietmar R; Otto, Markus; Brännström, Thomas; Volk, Alexander E; Kursula, Petri; Danzer, Karin M; Lichtner, Peter; Dikic, Ivan; Meitinger, Thomas; Ludolph, Albert C; Strom, Tim M; Andersen, Peter M; Weishaupt, Jochen H

    2015-05-01

    Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative syndrome hallmarked by adult-onset loss of motor neurons. We performed exome sequencing of 252 familial ALS (fALS) and 827 control individuals. Gene-based rare variant analysis identified an exome-wide significant enrichment of eight loss-of-function (LoF) mutations in TBK1 (encoding TANK-binding kinase 1) in 13 fALS pedigrees. No enrichment of LoF mutations was observed in a targeted mutation screen of 1,010 sporadic ALS and 650 additional control individuals. Linkage analysis in four families gave an aggregate LOD score of 4.6. In vitro experiments confirmed the loss of expression of TBK1 LoF mutant alleles, or loss of interaction of the C-terminal TBK1 coiled-coil domain (CCD2) mutants with the TBK1 adaptor protein optineurin, which has been shown to be involved in ALS pathogenesis. We conclude that haploinsufficiency of TBK1 causes ALS and fronto-temporal dementia.

  18. Gene amplification as a cause of inherited thyroxine-binding globulin excess in two Japanese families

    Energy Technology Data Exchange (ETDEWEB)

    Mori, Yuichi; Miura, Yoshitaka; Saito, Hidehiko [Toyota Memorial Hospital (Japan)] [and others

    1995-12-01

    T{sub 4}-binding globulin (TBG) is the major thyroid hormone transport protein in man. Inherited abnormalities in the level of serum TBG have been classified as partial deficiency, complete deficiency, and excess. Sequencing analysis of the TBG gene, located on Xq21-22, has uncovered the molecular defects causing partial and complete deficiency. However, the mechanism leading to inherited TBG excess remains unknown. In this study, two Japanese families, F-A and F-T, with inherited TBG excess were analyzed. Serum TBG levels in hemizygous males were 58 and 44 {mu}g/mL, 3- and 2-fold the normal value, respectively. The molecule had normal properties in terms of heat stability and isoelectric focussing pattern. The sequence of the coding region and the promoter activity of the TBG gene were also indistinguishable between hemizygotes and normal subjects. The gene dosage of TBG relative to that of {beta}-globin, which is located on chromosome 11, and Duchenne muscular dystropy, which is located on Xp, was evaluated by coamplification of these target genes using polymerase chain reaction and subsequent quantitation by HPLC. The TBG/{beta}-globin ratios of the affected male and female of F-A were 3.13 and 4.13 times, respectively, that in the normal males. The TBG/Duchenne muscular dystrophy ratios were 2.92 and 2.09 times the normal value, respectively. These results are compatible with three copies of TBG gene on the affected X-chromosome. Similarly, a 2-fold increase in gene dosage was demonstrated in the affected hemizygote of F-T. A 3-fold tandem amplification of the TBG gene was shown by in situ hybridization of prometaphase and interphase chromosomes from the affected male with a biotinylated genomic TBG probe, confirming the gene dosage results. Gene amplification of TBG is the cause of inherited TBG excess in these two families. 35 refs., 3 figs., 2 tabs.

  19. Plantar Pressure Distribution During Robotic-Assisted Gait in Post-stroke Hemiplegic Patients

    OpenAIRE

    Yang, Jin Kyu; Ahn, Na El; Kim, Dae Hyun; Kim, Deog Young

    2014-01-01

    Objective To assess the plantar pressure distribution during the robotic-assisted walking, guided through normal symmetrical hip and knee physiological kinematic trajectories, with unassisted walking in post-stroke hemiplegic patients. Methods Fifteen hemiplegic stroke patients, who were able to walk a minimum of ten meters independently but with asymmetric gait patterns, were enrolled in this study. All the patients performed both the robotic-assisted walking (Lokomat) and the unassisted wal...

  20. Musculoskeletal ultrasonographic findings of the affected and unaffected shoulders in hemiplegic patients

    OpenAIRE

    Fatma Ali; Mona Hamdy; Rasha A Abdel-Magied; Mostafa M Elian

    2016-01-01

    Background There are many sonographic changes in affected and unaffected shoulders in patients with established hemiplegia. Aim The aim of this study was to evaluate the sonographic findings of hemiplegic shoulder in patients after acute stroke and the detection of the correlation between the physical or sonographic findings and early-onset hemiplegic shoulder pain. Patients and methods Shoulders of 30 patients with cerebrovascular stroke (six male and 24 female patients), 18...

  1. A new Multiple ANFIS model for classification of hemiplegic gait.

    Science.gov (United States)

    Yardimci, A; Asilkan, O

    2014-01-01

    Neuro-fuzzy system is a combination of neural network and fuzzy system in such a way that neural network learning algorithms, is used to determine parameters of the fuzzy system. This paper describes the application of multiple adaptive neuro-fuzzy inference system (MANFIS) model which has hybrid learning algorithm for classification of hemiplegic gait acceleration (HGA) signals. Decision making was performed in two stages: feature extraction using the wavelet transforms (WT) and the ANFIS trained with the backpropagation gradient descent method in combination with the least squares method. The performance of the ANFIS model was evaluated in terms of training performance and classification accuracies and the results confirmed that the proposed ANFIS model has potential in classifying the HGA signals. PMID:25160151

  2. The Role of Prematurity in Patients With Hemiplegic Cerebral Palsy.

    Science.gov (United States)

    Zelnik, Nathanel; Lahat, Eli; Heyman, Eli; Livne, Amir; Schertz, Mitchell; Sagie, Liora; Fattal-Valevski, Aviva

    2016-05-01

    A multicenter retrospective study was conducted to investigate the perinatal factors, imaging findings and clinical characteristics of hemiplegic cerebral palsy with a particular focus on children born prematurely. Our cohort included 135 patients of whom 42% were born prematurely; 16% were extreme premature infants who were born at 30 weeks or earlier. Nineteen (14%) were twins. Right hemiplegia was slightly more common and accounted for 59% of the patients. Imaging findings of intraventricular hemorrhage and periventricular leukomalacia were more prevalent in premature children whereas stroke, porencephaly, cerebral hemorrhage and cerebral atrophy were more evenly distributed in both term-born and prematurely-born children (p< 0.01). The overall prevalence of epilepsy in the cohort was 26% with no differences in full-term compared to prematurely-born children. Regardless of the gestational birth age, intellectual deficits were more common in the presence of comorbidity of both hemiplegia and epilepsy (p< 0.05). PMID:26500242

  3. Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons, mistakes, and the way forward.

    Science.gov (United States)

    Mollaki, Vasiliki; Drogari, Euridiki

    2016-01-01

    Familial hypercholesterolemia (FH) is a leading cause of premature atherosclerosis. Genetic defects in the LDLR, APOB and PCSK9 genes cause FH, and confirmation of a gene defect is essential for an indisputable diagnosis of the disease. FH is underdiagnosed and we aimed to revise the genetic defects that have been characterized in FH patients of Greek origin and define an effective, future strategy for genetic studies. A literature search was performed in MEDLINE and EMBASE on genetic studies with FH patients of Greek origin. To date, no APOB and PCSK9 mutations have been found in the Greek population. It must be noted however, that only a small number of patients has been screened for PCSK9 mutations. In total, 41 LDLR defects have been characterized, with 6 common mutations c.1646G>A (p.Gly546Asp), c.858C>A (p.Ser286Arg), c.81C>G (p.Cys27Trp), c.1285G>A (p.Val429Met), c.517T>C (p.Cys173Arg), and c.1775G>A (p.Gly592Glu) that account for >80% of all mutations. Due to geographic isolation, ​founder mutations exist in a subpopulation in North West Greece and the Greek Cypriot population but not in the general population. Genetic testing should focus primarily on LDLR, and subsequently on PCSK9 and APOB. The Greek population is genetically homogeneous, which allows for a quick molecular diagnosis of the disease. Cascade screening is feasible and will certainly facilitate the identification of additional patients.

  4. Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia

    Science.gov (United States)

    Ramirez, Grisela

    2016-01-01

    Abstract Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy that is caused by a mutation in the gene for inhibitor of kappa B kinase complex-associated protein (IKBKAP). Although FD patients suffer from multiple neuropathies, a major debilitation that affects their quality of life is progressive blindness. To determine the requirement for Ikbkap in the developing and adult retina, we generated Ikbkap conditional knockout (CKO) mice using a TUBA1a promoter-Cre (Tα1-Cre). In the retina, Tα1-Cre expression is detected predominantly in retinal ganglion cells (RGCs). At 6 months, significant loss of RGCs had occurred in the CKO retinas, with the greatest loss in the temporal retina, which is the same spatial phenotype observed in FD, Leber hereditary optic neuropathy, and dominant optic atrophy. Interestingly, the melanopsin-positive RGCs were resistant to degeneration. By 9 months, signs of photoreceptor degeneration were observed, which later progressed to panretinal degeneration, including RGC and photoreceptor loss, optic nerve thinning, Müller glial activation, and disruption of layers. Taking these results together, we conclude that although Ikbkap is not required for normal development of RGCs, its loss causes a slow, progressive RGC degeneration most severely in the temporal retina, which is later followed by indirect photoreceptor loss and complete retinal disorganization. This mouse model of FD is not only useful for identifying the mechanisms mediating retinal degeneration, but also provides a model system in which to attempt to test therapeutics that may mitigate the loss of vision in FD patients. PMID:27699209

  5. Two family members with a syndrome of headache and rash caused by human parvovirus B19

    Directory of Open Access Journals (Sweden)

    Antonio Carlos M. Pereira

    2001-02-01

    Full Text Available Human parvovirus B19 infection can cause erythema infectiosum (EI and several other clinical presentations. Central nervous system (CNS involvement is rare, and only a few reports of encephalitis and aseptic meningitis have been published. Here, we describe 2 cases of B19 infection in a family presenting different clinical features. A 30 year old female with a 7-day history of headache, malaise, myalgias, joint pains, and rash was seen. Physical examination revealed a maculopapular rash on the patient's body, and arthritis of the hands. She completely recovered in 1 week. Two days before, her 6 year old son had been admitted to a clinic with a 1-day history of fever, headache, abdominal pain and vomiting. On admission, he was alert, and physical examination revealed neck stiffness, Kerning and Brudzinski signs, and a petechial rash on his trunk and extremities. Cerebrospinal fluid analysis was normal. He completely recovered in 5 days. Acute and convalescent sera of both patients were positive for specific IgM antibody to B19. Human parvovirus B19 should be considered in the differential diagnosis of aseptic meningitis, particularly during outbreaks of erythema infectiosum. The disease may mimic meningococcemia and bacterial meningitis.

  6. A case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 gene

    OpenAIRE

    Grandone, Anna; Cantelmi, Grazia; Cirillo, Grazia; Marzuillo, Pierluigi; Luongo, Caterina; Miraglia del Giudice, Emanuele; Perrone, Laura

    2015-01-01

    Background Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene, located on chromosome 15 in the Prader-Willi syndrome (PWS)-associated region (15q11-q13), has been found mutated in 5 families with familial precocious puberty. The MKRN3 is a maternal imprinted gene and the phenotype is expressed only when the MKRN3 mutations are localized on the allele inherited from the father. The function ...

  7. Familial hemicrania continua.

    Science.gov (United States)

    Weatherall, Mark W; Bahra, Anish

    2011-01-01

    There are now three known causative genes for familial hemiplegic migraine and increasing evidence to support a genetic predisposition to the more common types of migraine with and without aura, and for cluster headache. We present the first reported case of familial hemicrania continua. A mother and daughter developed hemicrania continua at the same time of life. Both showed an absolute response to indometacin and at similar doses. Both also suffered from migraine with aura. We discuss the increasing support for a genetic predisposition to dysfunction of the pain system within the brain manifesting as primary headache.

  8. Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene

    Energy Technology Data Exchange (ETDEWEB)

    Karl, M.; Lamberts, S.W.J.; Detera-Wadleigh, S.D.; Encio, I.J.; Stratakis, C.A.; Hurley, D.M.; Accili, D.; Chrousos, G.P. (National Institutes of Health, Bethesda, MD (United States) Erasmus Univ. of Rotterdam (Netherlands))

    1993-03-01

    The clinical syndrome of generalized, compensated glucocorticoid resistance is characterized by increased cortisol secretion without clinical evidence of hyper- or hypocortisolism, and manifestations of androgen and/or mineralocorticoid excess. This condition results from partial failure of the glucocorticoid receptor (GR) to modulate transcription of its target genes. The authors studied the molecular mechanisms of this syndrome in a Dutch kindred, whose affected members had hypercortisolism and approximately half of normal GRs, and whose proband was a young woman with manifestations of hyperandrogenism. Using the polymerase chain reaction to amplify and sequence each of the nine exons of the GR gene [alpha], along with their 5[prime]- and 3[prime]-flanking regions, the authors identified a 4-base deletion at the 3[prime]-boundary of exon 6 in one GR allele ([Delta][sub 4]), which removed a donor splice site in all three affected members studied. In contrast, the sequence of exon 6 in the two unaffected siblings was normal. A single nucleotide substitution causing an amino acid substitution in the amino terminal domain of the GR (asparagine to serine, codon 363) was also discovered in exon 2 of the other allele (G[sub 1220]) in the proband, in one of her affected brothers and in her unaffected sister. This deletion in the glucocorticoid receptor gene was associated with the expression of only one allele and a decrease of GR protein by 50% in affected members of this glucocorticoid resistant family. The mutation identified in exon 2 did not segregate with the disease and appears to be of no functional significance. The presence of the null allele was apparently compensated for by increased cortisol production at the expense of concurrent hyperandrogenism. 40 refs., 3 figs.

  9. Work-Family conflict as a cause for e turnover intentions in the hospitality industry

    NARCIS (Netherlands)

    Blomme, R.J.; Rheede, van A.; Tromp, D.M.

    2010-01-01

    This study examines the work-family conflict approach to the turnover intentions of highly educated employees within the hospitality industry. The purpose was to investigate the relation between workplace flexibility, organizational support, work-family conflict and the intention to leave among high

  10. Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.

    Science.gov (United States)

    Abouzeid, Hana; Favez, Tatiana; Schmid, Angélique; Agosti, Céline; Youssef, Mohammed; Marzouk, Iman; El Shakankiry, Nihal; Bayoumi, Nader; Munier, Francis L; Schorderet, Daniel F

    2014-08-01

    Anophthalmia or microphthalmia (A/M), characterized by absent or small eye, can be unilateral or bilateral and represent developmental anomalies due to the mutations in several genes. Recently, mutations in aldehyde dehydrogenase family 1, member A3 (ALDH1A3) also known as retinaldehyde dehydrogenase 3, have been reported to cause A/M. Here, we screened a cohort of 75 patients with A/M and showed that mutations in ALDH1A3 occurred in six families. Based on this series, we estimate that mutations in ALDH1A3 represent a major cause of A/M in consanguineous families, and may be responsible for approximately 10% of the cases. Screening of this gene should be performed in a first line of investigation, together with SOX2.

  11. Novel A CTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Theγ-actin(ACTG1)gene is a cytoplasmic nonmuscle actin gene,which encodes a major cytoskeletal protein in the sensory hair cells of the cochlea.Mutations in ACTG1 were found to cause autosomal dominant,progressive,sensorineural hearing loss linked to the DFNA 20/26 locus on chromosome 17q25.3 in European and American families,respectively.In this study,a novel missense mutation (c.364A>G;p.I122V)co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls.The alteration of residue I1e122 was predicted to damage its interaction with actin-binding proteins,which may cause disruption of hair cell organization and function.These findings strongly suggested that the I122V mutation in ACTG1 caused autosomal dominant non-syndromic hearing impairment in a Chinese family and expanded the spectrum of ACTG1 mutations causing hearing loss.

  12. A progressive familial intrahepatic cholestasis type 2 mutation causes an unstable, temperature-sensitive bile salt export pump

    NARCIS (Netherlands)

    Plass, JRM; Mol, O; Heegsma, J; Geuken, M; Elling, G; Muller, M; Faber, KN; Jansen, PLM

    2004-01-01

    Background Aims: Progressive familial intrahepatic cholestasis type 2 (PFIC-2) patients have a defect in the hepatocanalicular bile salt secretion. The disease is caused by mutations in the bile salt export pump (BSEP). Ten different missense mutations have been described. In this study, we analysed

  13. The Impact of Gender, Family Type and Age on Undergraduate Parents' Perception of Causes of Sexual Abuse

    Science.gov (United States)

    Onoyase, Anna

    2016-01-01

    The purpose of this study was to investigate the Impact of Gender, Family type and Age on undergraduate parents' perception of causes of child Sexual Abuse. Three hypotheses were formulated and tested. There was a review of relevant literature. The population for the study were 2014 sandwich contact students of Delta State University, Abraka who…

  14. A novel mutation at the JK locus causing Jknull phenotype in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    MENG; Yan

    2005-01-01

    [1]Olivès, B., Mattei, M. G., Huet, M. et al., Kidd blood group and urea transport of human erythrocytes are carried by the same pro-tein, J. Biol. Chem., 1995, 270(26): 15607―15610.[2]Sands, J. M., Timmer, R. T., Gunn, R. B., Urea transporters in kidney and erythrocytes, Am. J. Physiol.,1997, 273: F321―F339.[3]Heaton, D. C., McLoughlin, K., Jk(a-b-) red blood cells resist urea lysis, Transfusion, 1982, 22(1): 70―71.[4]Sands, J. M., Gargus, J. J., Frohlich, O. et al., Urinary concentrating ability in patients with Jk(a-b-) blood type who lack carrier-mediated urea transport, J. Am. Soc. Nephrol., 1992, 2(12): 1689―1696.[5]Nidal, M., Irshaid, N. I., Eicher, H. H. et al., Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families, Br. J. Heaematol., 2002, 116(2): 445―453.[6]Okubo, Y., Yamaguchi, H., Nagao, N. et al., Heterogeneity of the pheno type JK(a-,b-) found in Japanese, Transfusion, 1986, 26(3): 237―239.[7]Olives, B., Merriman, M., Bailly, P. et al., The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility, Hum. Mol. Genet., 1997, 6(7): 1017―1020.[8]Fr(o)hlich, O., Macey, R. I., Edwards-Moulds, J. et al., Urea transport deficiency in Jk(ab) erythrocytes, Am. J. Physiol., 1991, 260: C778―C783.[9]Irshaid, N. M., Hustinx, H., Olsson, M. L., A novel molecular basis of the JK(a-b-) phenotype in a Swiss family, Vox. Sanguinis, 2000, 78(suppl 1): O019.[10]Lucien, N., Chiaroni, J., Cartron, J. P. et al., Partial deletion in the JK locus causing a Jk(null ) phenotype, Blood, 2002, 99(3): 1079―1081.[11]Yang, B., Verkman, A. S., Analysis of double knockout mice lacking aquaporin-1 and urea transporter UT-B: Evidence for UT-B facilitated water transport in erythrocytes, J. Biol. Chem., 2002, 277(39): 36782―36786.[12]Van Hoek, A. N., Verkman, A. S., Functional reconstitution of the isolated erythrocyte water channel CHIP28, J

  15. A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia.

    Science.gov (United States)

    Soufi, Muhidien; Rust, Stephan; Walter, Michael; Schaefer, Juergen R

    2013-05-25

    Familial hypercholesterolemia (FH) results from impaired catabolism of plasma low density lipoproteins (LDL), thus leading to high cholesterol, atherosclerosis, and a high risk of premature myocardial infarction. FH is commonly caused by defects of the LDL receptor or its main ligand apoB, together mediating cellular uptake and clearance of plasma LDL. In some cases FH is inherited by mutations in the genes of PCSK9 and LDLRAP1 (ARH) in a dominant or recessive trait. The encoded proteins are required for LDL receptor stability and internalization within the LDLR pathway. To detect the underlying genetic defect in a family of Turkish descent showing unregular inheritance of severe FH, we screened the four candidate genes by denaturing gradient gel electrophoresis (DGGE) mutation analysis. We identified different combinatory mixtures of LDLR- and LDLRAP1-gene defects as the cause for severe familial hypercholesterolemia in this family. We also show for the first time that a heterozygous LDLR mutation combined with a homozygous LDLRAP1 mutation produces a more severe hypercholesterolemia phenotype in the same family than a homozygous LDLR mutation alone. PMID:23510778

  16. Gait Patterns in Hemiplegic Patients with Equinus Foot Deformity

    Directory of Open Access Journals (Sweden)

    M. Manca

    2014-01-01

    Full Text Available Equinus deformity of the foot is a common feature of hemiplegia, which impairs the gait pattern of patients. The aim of the present study was to explore the role of ankle-foot deformity in gait impairment. A hierarchical cluster analysis was used to classify the gait patterns of 49 chronic hemiplegic patients with equinus deformity of the foot, based on temporal-distance parameters and joint kinematic measures obtained by an innovative protocol for motion assessment in the sagittal, frontal, and transverse planes, synthesized by parametrical analysis. Cluster analysis identified five subgroups of patients with homogenous levels of dysfunction during gait. Specific joint kinematic abnormalities were found, according to the speed of progression in each cluster. Patients with faster walking were those with less ankle-foot complex impairment or with reduced range of motion of ankle-foot complex, that is with a stiff ankle-foot complex. Slow walking was typical of patients with ankle-foot complex instability (i.e., larger motion in all the planes, severe equinus and hip internal rotation pattern, and patients with hip external rotation pattern. Clustering of gait patterns in these patients is helpful for a better understanding of dysfunction during gait and delivering more targeted treatment.

  17. A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family

    OpenAIRE

    Dong, Jiamei; Bu, Juan; Du, Wei; Li, Yuan; Jia, Yanlei; Li, Jianchang; Meng, Xiaoli; Minghui YUAN; Peng, Xiaojuan; Zhou, Aimin; Wang, Lejin

    2012-01-01

    Purpose Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS). Methods It has been reported that FBN1 mutations account for approximately 90% of Autosomal Dominant MFS. FBN1 mutations were analyzed in a Chinese family of 36 members including 13 MFS patients. The genomic DNAs from blood leukocytes of the patients and their relatives were isolated and the entire coding region of FBN1 was amplified by PCR. The sequence of FBN1 was...

  18. The R1947X mutation of NF1 causing autosomal dominant neurofibromatosis type 1 in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    Qinbo Yang; Changzheng Huang; Xiaoying Yang; Yinfu Feng; Qing Wang; Mugen Liu

    2008-01-01

    Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance. It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin. The main function of neurofibromin is down-regulating the biological activity of the proto-oncoprotein Ras by acting as a Ras-specific GTPase activating protein. In this study, we identified a Chinese family affected with neurofibromatosis type 1. The known gene NF1 associated with NF1 was studied by linkage analysis and by direct sequencing of the entire coding region and exon-intron boundaries of the NF1 gene. The R1947X mutation of NF1 was identified, which was co-segregated with affected individuals in the Chinese family, but not present in unaffected family members. This is the first report, which states that the R1947X mutation of NF1 may be one of reasons for neurofibromatosis type 1 in Chinese population.

  19. Novel Mutations Causing C5 Deficiency in Three North-African Families.

    Science.gov (United States)

    Colobran, Roger; Franco-Jarava, Clara; Martín-Nalda, Andrea; Baena, Neus; Gabau, Elisabeth; Padilla, Natàlia; de la Cruz, Xavier; Pujol-Borrell, Ricardo; Comas, David; Soler-Palacín, Pere; Hernández-González, Manuel

    2016-05-01

    The complement system plays a central role in defense to encapsulated bacteria through opsonization and membrane attack complex (MAC) dependent lysis. The three activation pathways (classical, lectin, and alternative) converge in the cleavage of C5, which initiates MAC formation and target lysis. C5 deficiency is associated to recurrent infections by Neisseria spp. In the present study, complement deficiency was suspected in three families of North-African origin after one episode of invasive meningitis due to a non-groupable and two uncommon Meningococcal serotypes (E29, Y). Activity of alternative and classical pathways of complement were markedly reduced and the measurement of terminal complement components revealed total C5 absence. C5 gene analysis revealed two novel mutations as causative of the deficiency: Family A propositus carried a homozygous deletion of two adenines in the exon 21 of C5 gene, resulting in a frameshift and a truncated protein (c.2607_2608del/p.Ser870ProfsX3 mutation). Families B and C probands carried the same homozygous deletion of three consecutive nucleotides (CAA) in exon 9 of the C5 gene, leading to the deletion of asparagine 320 (c.960_962del/p.Asn320del mutation). Family studies confirmed an autosomal recessive inheritance pattern. Although sharing the same geographical origin, families B and C were unrelated. This prompted us to investigate this mutation prevalence in a cohort of 768 North-African healthy individuals. We identified one heterozygous carrier of the p.Asn320del mutation (allelic frequency = 0.065 %), indicating that this mutation is present at low frequency in North-African population.

  20. Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.

    OpenAIRE

    Yu, B.; French, J. A.; Carrier, L.; Jeremy, R W; McTaggart, D R; Nicholson, M R; Hambly, B; Semsarian, C; Richmond, D R; Schwartz, K.; Trent, R.J.

    1998-01-01

    DNA studies in familial hypertrophic cardiomyopathy (FHC) have shown that it is caused by mutations in genes coding for proteins which make up the muscle sarcomere. The majority of mutations in the FHC genes result from missense changes, although one of the most recent genes to be identified (cardiac myosin binding protein C gene, MYBPC3) has predominantly DNA mutations which produce truncated proteins. Both dominant negative and haploinsufficiency models have been proposed to explain the mol...

  1. Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene

    Directory of Open Access Journals (Sweden)

    Luciana Z Monteiro

    2012-01-01

    Full Text Available Familial partial lipodystrophy (FPLD, Dunnigan variety, is an autosomal dominant disorder caused due to missense mutations in the lamin A/C (LMNA gene encoding nuclear lamina proteins. Patients with FPLD are predisposed to metabolic complications of insulin resistance such as diabetes. We sought to evaluate and compare body fat distribution with dual-emission X-ray absorptiometry in women with and without FPLD and identify densitometric, clinical and metabolic features.

  2. Hemiplegic shoulder pain: evidence of a neuropathic origin.

    Science.gov (United States)

    Zeilig, Gabi; Rivel, Michal; Weingarden, Harold; Gaidoukov, Evgeni; Defrin, Ruth

    2013-02-01

    Hemiplegic shoulder pain (HSP) is common after stroke. Whereas most studies have concentrated on the possible musculoskeletal factors underlying HSP, neuropathic aspects have hardly been studied. Our aim was to explore the possible neuropathic components in HSP, and if identified, whether they are specific to the shoulder or characteristic of the entire affected side. Participants included 30 poststroke patients, 16 with and 14 without HSP, and 15 healthy controls. The thresholds of warmth, cold, heat-pain, touch, and graphesthesia were measured in the intact and affected shoulder and in the affected lower leg. They were also assessed for the presence of allodynia and hyperpathia, and computed tomography/magnetic resonance imaging scans of the brain were reviewed. In addition, chronic pain was characterized. Participants with HSP exhibited higher rates of parietal lobe damage (P<0.05) compared to those without HSP. Both poststroke groups exhibited higher sensory thresholds than healthy controls. Those with HSP had higher heat-pain thresholds in both the affected shoulder (P<0.001) and leg (P<0.01), exhibited higher rates of hyperpathia in both these regions (each P<0.001), and more often reported chronic pain throughout the affected side (P<0.001) than those without HSP. The more prominent sensory alterations in the shoulder region suggest that neuropathic factors play a role in HSP. The clinical evidence of damage to the spinothalamic-thalamocortical system in the affected shoulder and leg, the presence of chronic pain throughout the affected side, and the more frequent involvement of the parietal cortex all suggest that the neuropathic component is of central origin.

  3. Tamoxifen precipitation of familial hypertriglyceridaemia: a rare cause of acute pancreatitis.

    Science.gov (United States)

    Wadood, Ali; Chesner, Robert; Mirza, Mehboob; Zaman, Shafquat

    2016-01-01

    Drug-induced pancreatitis is uncommon, and is estimated to account for between 0.1% and 5% of cases. Tamoxifen is commonly used in the management of oestrogen receptor-positive breast cancer. We present a rare case of tamoxifen-related hyperlipidaemia resulting in repeated episodes of pancreatitis, which, to the best of our knowledge, has only been documented a few times in the literature. A 36-year-old woman with familial hypertriglyceridaemia presented with recurrent episodes of abdominal pain, modest increases in serum amylase levels and normal liver function tests. The patient had recently been diagnosed with breast carcinoma and was managed with wide local excision (WLE), adjuvant radiotherapy and tamoxifen. On each admission, the patient's symptoms were confirmed either biochemically and/or radiologically. Analysis of the case led to a diagnosis of precipitation of familial hypertriglyceridaemia from tamoxifen use resulting in pancreatitis. Management was altered with tamoxifen cessation and initiation of second-line hormonal therapy. Tamoxifen use needs consideration, especially in those with familial hyperlipidaemia. PMID:27489062

  4. A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder

    Science.gov (United States)

    Takano, Kenichi; Ogasawara, Noriko; Matsunaga, Tatsuo; Mutai, Hideki; Sakurai, Akihiro; Ishikawa, Aki; Himi, Tetsuo

    2016-01-01

    The human noggin (NOG) gene is responsible for a broad spectrum of clinical manifestations of NOG-related symphalangism spectrum disorder (NOG-SSD), which include proximal symphalangism, multiple synostoses, stapes ankylosis with broad thumbs (SABTT), tarsal–carpal coalition syndrome, and brachydactyly type B2. Some of these disorders exhibit phenotypes associated with congenital stapes ankylosis. In the present study, we describe a Japanese pedigree with dactylosymphysis and conductive hearing loss due to congenital stapes ankylosis. The range of motion in her elbow joint was also restricted. The family showed multiple clinical features and was diagnosed with SABTT. Sanger sequencing analysis of the NOG gene in the family members revealed a novel heterozygous nonsense mutation (c.397A>T; p.K133*). In the family, the prevalence of dactylosymphysis and hyperopia was 100% while that of stapes ankylosis was less than 100%. Stapes surgery using a CO2 laser led to a significant improvement of the conductive hearing loss. This novel mutation expands our understanding of NOG-SSD from clinical and genetic perspectives.

  5. A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder.

    Science.gov (United States)

    Takano, Kenichi; Ogasawara, Noriko; Matsunaga, Tatsuo; Mutai, Hideki; Sakurai, Akihiro; Ishikawa, Aki; Himi, Tetsuo

    2016-01-01

    The human noggin (NOG) gene is responsible for a broad spectrum of clinical manifestations of NOG-related symphalangism spectrum disorder (NOG-SSD), which include proximal symphalangism, multiple synostoses, stapes ankylosis with broad thumbs (SABTT), tarsal-carpal coalition syndrome, and brachydactyly type B2. Some of these disorders exhibit phenotypes associated with congenital stapes ankylosis. In the present study, we describe a Japanese pedigree with dactylosymphysis and conductive hearing loss due to congenital stapes ankylosis. The range of motion in her elbow joint was also restricted. The family showed multiple clinical features and was diagnosed with SABTT. Sanger sequencing analysis of the NOG gene in the family members revealed a novel heterozygous nonsense mutation (c.397A>T; p.K133*). In the family, the prevalence of dactylosymphysis and hyperopia was 100% while that of stapes ankylosis was less than 100%. Stapes surgery using a CO2 laser led to a significant improvement of the conductive hearing loss. This novel mutation expands our understanding of NOG-SSD from clinical and genetic perspectives. PMID:27508084

  6. Ultrasonographic and clinical study of post-stroke painful hemiplegic shoulder

    Directory of Open Access Journals (Sweden)

    Rania E. Mohamed

    2014-12-01

    Conclusion: Ultrasonography is an essential method in evaluation of post-stroke PHS. However, the U/S grades were not correlated with the stages of motor recovery. Avoiding overuse of the unaffected shoulder will be helpful for prevention of shoulder injuries following hemiplegic stroke.

  7. Inter-rater Reliability of the Modified Ashworth Scale for Spasticity in Hemiplegic Patients.

    Science.gov (United States)

    Sloan, R. L.; And Others

    1992-01-01

    This study tested the interrater reliability of the Modified Ashworth Scale in measuring upper and lower limb spasticity in 34 hemiplegic adult patients examined by 2 physiotherapists and 2 doctors. Findings indicated satisfactory reliability for upper limb spasticity but less satisfactory results for lower limb spasticity. (DB)

  8. A body-worn gait analysis system for evaluating hemiplegic gait

    NARCIS (Netherlands)

    Granat, M.H.; Maxwell, D.J.; Bosch, C.J.; Ferguson, A.C.B.; Lees, K.R.; Barbenel, J.C.

    1995-01-01

    This paper describes a system for measuring the temporal parameters of hemiplegic gait. This system uses shoe insoles with sensors, acting as switches, placed under the heel, head of the first metatarsal, head of the fifth metatarsal and the big toe. This system is able to monitor gait for up to 10

  9. Effects of a multichannel dynamic functional electrical stimulation system on hemiplegic gait and muscle forces.

    Science.gov (United States)

    Qian, Jing-Guang; Rong, Ke; Qian, Zhenyun; Wen, Chen; Zhang, Songning

    2015-11-01

    [Purpose] The purpose of the study was to design and implement a multichannel dynamic functional electrical stimulation system and investigate acute effects of functional electrical stimulation of the tibialis anterior and rectus femoris on ankle and knee sagittal-plane kinematics and related muscle forces of hemiplegic gait. [Subjects and Methods] A multichannel dynamic electrical stimulation system was developed with 8-channel low frequency current generators. Eight male hemiplegic patients were trained for 4 weeks with electric stimulation of the tibia anterior and rectus femoris muscles during walking, which was coupled with active contraction. Kinematic data were collected, and muscle forces of the tibialis anterior and rectus femoris of the affected limbs were analyzed using a musculoskelatal modeling approach before and after training. A paired sample t-test was used to detect the differences between before and after training. [Results] The step length of the affected limb significantly increased after the stimulation was applied. The maximum dorsiflexion angle and maximum knee flexion angle of the affected limb were both increased significantly during stimulation. The maximum muscle forces of both the tibia anterior and rectus femoris increased significantly during stimulation compared with before functional electrical stimulation was applied. [Conclusion] This study established a functional electrical stimulation strategy based on hemiplegic gait analysis and musculoskeletal modeling. The multichannel functional electrical stimulation system successfully corrected foot drop and altered circumduction hemiplegic gait pattern.

  10. A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood

    NARCIS (Netherlands)

    Weller, C.M.; Leen, W.G.; Neville, B.G.; Duncan, J.S.; Vries, B. de; Geilenkirchen, M.A.; Haan, J.; Kamsteeg, E.J.; Ferrari, M.D.; Maagdenberg, A.M. van den; Willemsen, M.A.; Scheffer, H.; Terwindt, G.M.

    2015-01-01

    BACKGROUND: Hemiplegic migraine (HM) and alternating hemiplegia of childhood (AHC) are rare episodic neurological brain disorders with partial clinical and genetic overlap. Recently, ATP1A3 mutations were shown to account for the majority of AHC patients. In addition, a mutation in the SLC2A1 gene w

  11. Gait Patterns in Hemiplegic Children with Cerebral Palsy: Comparison of Right and Left Hemiplegia

    Science.gov (United States)

    Galli, Manuela; Cimolin, Veronica; Rigoldi, Chiara; Tenore, Nunzio; Albertini, Giorgio

    2010-01-01

    The aims of this study are to compare quantitatively the gait strategy of the right and left hemiplegic children with Cerebral Palsy (CP) using gait analysis. The gait strategy of 28 right hemiparetic CP (RHG) and 23 left hemiparetic CP (LHG) was compared using gait analysis (spatio-temporal and kinematic parameters) and considering the hemiplegic…

  12. Epilepsy in Hemiplegic Cerebral Palsy Due to Perinatal Arterial Ischaemic Stroke

    Science.gov (United States)

    Wanigasinghe, Jithangi; Reid, Susan M.; Mackay, Mark T.; Reddihough, Dinah S.; Harvey, A. Simon; Freeman, Jeremy L.

    2010-01-01

    Aim: The aim of this study was to describe the frequency, risk factors, manifestations, and outcome of epilepsy in children with hemiplegic cerebral palsy (CP) due to perinatal arterial ischaemic stroke (AIS). Method: The study group comprised 63 participants (41 males, 22 females) from a population-based CP register whose brain imaging showed…

  13. Mutations in MODY Genes Are not Common Cause of Early-Onset Type 2 Diabetes in Mexican Families

    Directory of Open Access Journals (Sweden)

    Bravo-Ríos LE

    2005-05-01

    Full Text Available CONTEXT: Maturity-onset diabetes of the young (MODY is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset and a primary insulin secretion defect. Certain MODY gene sequence variants may be involved in polygenic forms of type 2 diabetes. OBJECTIVE: We assessed the contribution of MODY genes to the etiology of type 2 early-onset diabetes in 23 Mexican families, including five with apparently autosomal dominant inheritance. PATIENTS: Twenty-three unrelated Mexican families with early-onset type 2 diabetes previously screened for the presence of glucokinase mutations, were studied. DESIGN: We screened MODY genes for sequence variants by PCR-SSCP analysis and automated sequencing. We performed a functional analysis of the HNF-1alpha P379H recombinant protein in vitro in both HeLa and RINm5f beta-cell lines. MAIN OUTCOME MEASURES: MODY gene mutation screening and P379H mutant protein transactivation assay. RESULTS: No mutations were detected in the HNF-4alpha, IPF-1, NEUROD1 or HNF-1beta genes in any of the families studied. A new mutation (P379H of the HNF-1alpha gene was identified in one MODY family. RINm5f and HeLa cell transfection assays revealed decreased transactivation activity of the mutant protein on the human insulin promoter. CONCLUSIONS: All known MODY genes were screened for abnormalities in this cohort of early-onset diabetes families which included 5 MODY pedigrees. We identified a new HNF-1alpha MODY mutation (P379H and demonstrated that it reduces the transactivation potential of the mutant protein on the human insulin promoter. No other mutation was identified in this cohort indicating that abnormalities in MODY genes are generally not a common cause of early-onset diabetes and this includes MODY families in Mexico.

  14. 神经外科偏瘫与全瘫患者压疮发生率的比较%Incidence of Pressure Sore between Neurosurgical Hemiplegic Patients and Panplegic Patients

    Institute of Scientific and Technical Information of China (English)

    鄢丽萍; 杨晓兰

    2013-01-01

      目的比较神经外科偏瘫与全瘫患者压疮发生情况。方法采用自制改良 Norton 量表对40例神经外科偏瘫患者和40例全瘫患者进行测评,观察两组患者在住院过程中可预防性压疮的发生率。结果两组患者入院24 h 内自制改良 Norton 量表评分的差异有统计学意义,全瘫组评分较低;两组患者住院期间压疮发生率差异有统计学意义,偏瘫组发生率较高(P<0.05)。结论与全瘫患者比较,偏瘫患者更易发生压疮,在临床护理中需提高护理人员及患者家属对此类患者压疮预防的防范意识,从而预防和减少压疮发生。%Objective To compare the incidence of pressure sore between hemiplegic patients and panplegic patients in neurosurgery department. Methods A self-developed modified Norton Scale was applied among 40 hemiplegic patients and 40 panplegic patients in neurosurgery department to attain the incidence of preventable pressure sore during hospitalization. Results Scoring of modified Norton Scale indicated statistical significance and there was lower scoring in panplegic group and the incidence of pressure sore revealed statistical significance and there was higher incidence in hemiplegic group (P<0.05). Conclusion Pressure sore occurred more frequently in hemiplegic patients, consequently, it is necessary for nursing staff and patients’ family to improve the nursing of hemiplegic patients to prevent and reduce the incidence of pressure sore.

  15. Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP)

    Energy Technology Data Exchange (ETDEWEB)

    Stella, A.; Resta, N.; Susca, F.; Guanti, G.; Gentile, M. (Universita di Bari (Italy)); Mareni, C.; Montera, P. (Universita di Genova (Italy))

    1993-11-01

    Familial adenomatous polyposis (FAP) is a premalignant disease inherited as an autosomal dominant trait, characterized by hundreds to thousands of polyps in the colorectal tract. Recently, the syndrome has been shown to be caused by mutations in the APC (adenomatous polyposis coli) gene located on chromosome 5q21. The authors studied two families that both presented a phenotype different from that of the classical form of FAP. The most important findings observed in these two kindreds are (a) low and variable number of colonic polyps (from 5 to 100) and (b) a slower evolution of the disease, with colon cancer occurring at a more advanced age than in FAP in spite of the early onset of intestinal manifestations. To determine whether mutations of the APC gene are also responsible for this variant syndrome, linkage studies were performed by using a series of markers both intragenic and tightly linked to the APC gene. The results provide evidence for exclusion of the APC gene as the cause of the variant form of polyposis present in the two families described. 30 refs., 1 fig., 1 tab.

  16. Comparative study of the effect of taping on scapular stability and upper limb function in recovering hemiplegics with scapular weakness

    Directory of Open Access Journals (Sweden)

    Dhwanit Shah

    2013-01-01

    Full Text Available Background: Hemiplegia is the commonest form of paralysis, involving arm, leg and sometimes the face on one side of the body. Shoulder girdle in chronic hemiplegic suffers from two sorts of problems (a spasticity of elevators and retractors, which pull the scapula into a fixed elevated and retracted position. (b weakness of the opposite group of scapular muscles, i.e., depressors and protectors. This leads to instability of the scapulothoracic joint resulting in impaired functional use of the upper limb, taping is a method of maintaining orientation of the scapula by means of proprioceptive biofeedback to the patient. Aim of this study is to check the effect of taping on scapular stability and upper limb function in recovering hemiplegics. Objectives of the Study: (1 To study the effect of taping on functional performance of the hemiplegic upper extremity. (2 To compare the effect of taping combined with physiotherapeutic exercises v/s physiotherapeutic exercises alone on functional independence of the hemiplegic upper extremity. Subjects: All the 37 chronic hemiplegic patients with scapular weakness were taken and divided into two groups: Group A (Experimental group and Group B (Control group. Materials and Methods: All the 37 chronic hemiplegic patients were evaluated by Fugl Meyer Physical Performance Assessment Scale for hemiplegic upper extremity before starting the treatment. Group A patients received scapular taping combined with physiotherapeutic exercises and Group B patients received only physiotherapeutic exercises for the period of 2 weeks. After 2 weeks both Group A and B patients were re-evaluated on Fugl Meyer Physical Performance Assessment Scale for hemiplegic upper extremity. Results: There was a significant improvement between the pre- and post-treatment scores of Group A patients on the Fugl Meyer Physical Performance Assessment Scale of hemiplegic upper extremity, whereas Group B patients score on the same scale was

  17. SPG10 is a rare cause of spastic paraplegia in European families.

    NARCIS (Netherlands)

    Schule, R.; Kremer, B.P.; Kassubek, J.; Auer-Grumbach, M.; Kostic, V.; Klopstock, T.; Klimpe, S.; Otto, S.; Boesch, S.; Warrenburg, B.P.C. van de; Schols, L.

    2008-01-01

    BACKGROUND: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date. OBJECTIVE: To determine the fr

  18. Effects of short term water immersion on peripheral reflex excitability in hemiplegic and healthy individuals: A preliminary study

    OpenAIRE

    Cronin, Neil; Valtonen, A.M.; Waller, Benjamin; Pöyhönen, T.; Avela, Janne

    2016-01-01

    Background: Reflex excitability is increased in hemiplegic patients compared to healthy controls. One challenge of stroke rehabilitation is to decrease the effects of hyperreflexia, which may be possible with water immersion. Methods/Aims: The present study examined the effects of acute water immersion on electrically-evoked Hmax:Mmax ratios (a measure of reflex excitability) in 7 hyperreflexive hemiplegic patients and 7 age-matched healthy people. Hmax:Mmax ratios were measured from...

  19. COMPARATIVE STUDY OF IONTOPHORESIS BY DEXAMETHASONE AND TRANSCUTANEOUS ELECTRICAL NERVE STIMULATION IN THE TREATMENT OF PAINFUL HEMIPLEGIC SHOULDER

    OpenAIRE

    Suvarna Ganvir; Shyam D.Ganvir

    2012-01-01

    To study the short & long term effect of iontophoresis by dexamethasone & transcutaneous electrical nerve stimulation for the relief of pain & improvement of functional capacity in patients with painful hemiplegic shoulder. In this double blinded, randomised, trial of 63 (2 patients discontinued the study) patients with painful hemiplegic shoulder were recruited from rehabilitation unit. They were randomly divided into two groups. One of the group received maximum twelve treatments of iontoph...

  20. A Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy.

    LENUS (Irish Health Repository)

    Malik, Talat H

    2012-07-01

    Controlled activation of the complement system, a key component of innate immunity, enables destruction of pathogens with minimal damage to host tissue. Complement factor H (CFH), which inhibits complement activation, and five CFH-related proteins (CFHR1-5) compose a family of structurally related molecules. Combined deletion of CFHR3 and CFHR1 is common and confers a protective effect in IgA nephropathy. Here, we report an autosomal dominant complement-mediated GN associated with abnormal increases in copy number across the CFHR3 and CFHR1 loci. In addition to normal copies of these genes, affected individuals carry a unique hybrid CFHR3-1 gene. In addition to identifying an association between these genetic observations and complement-mediated kidney disease, these results provide insight into the protective role of the combined deletion of CFHR3 and CFHR1 in IgA nephropathy.

  1. Magnitude and Causes of Bias among Family Caregivers rating Alzheimer’s Disease Patients

    Science.gov (United States)

    Schulz, Richard; Cook, Thomas B.; Beach, Scott R.; Lingler, Jennifer H.; Martire, Lynn M.; Monin, Joan K.; Czaja, Sara J.

    2011-01-01

    Objective Family caregivers generally underestimate the health and well-being of Alzheimer’s disease (AD) patients when compared to patient self-assessments. The goals of this study were to identify caregiver, patient, and contextual factors associated with caregiver rating bias. Methods 105 patients with AD and their family caregivers were assessed twice by trained interviewers one year apart. In separate interviews, caregivers were asked to rate the quality of life and suffering of their patient relative, and patients provided self-ratings using the same structured instruments. Multivariate cross-sectional and longitudinal analyses were used to identify predictors of caregiver-patient discrepancies. Results Caregivers consistently reported significantly higher levels of suffering and lower levels of quality of life than patients. Caregiver psychological well-being and health status accounted for a substantial portion of the difference in caregiver and patient ratings in both cross-sectional and longitudinal analyses. Caregiver depression and burden were consistently positively associated with the magnitude of caregiver-patient discrepancy, and caregiver health status was negatively associated with the size of the discrepancy. Conclusions Caregiver assessments of dementia patients may determine the type and frequency of treatment received by the patient, and caregivers’ ability to reliably detect change in patient status can play a critical role in evaluating the efficacy of therapeutic interventions and pharmacologic agents. Clinicians and researchers working with dementia patients who rely on caregiver reports of patient status should be sensitive to the health and well-being of the caregiver and recognize that caregiver assessments may be negatively biased when the caregiver’s own well-being is compromised. PMID:23290199

  2. Is the association between general cognitive ability and violent crime caused by family-level confounders?

    Directory of Open Access Journals (Sweden)

    Thomas Frisell

    Full Text Available BACKGROUND: Research has consistently found lower cognitive ability to be related to increased risk for violent and other antisocial behaviour. Since this association has remained when adjusting for childhood socioeconomic position, ethnicity, and parental characteristics, it is often assumed to be causal, potentially mediated through school adjustment problems and conduct disorder. Socioeconomic differences are notoriously difficult to quantify, however, and it is possible that the association between intelligence and delinquency suffer substantial residual confounding. METHODS: We linked longitudinal Swedish total population registers to study the association of general cognitive ability (intelligence at age 18 (the Conscript Register, 1980-1993 with the incidence proportion of violent criminal convictions (the Crime Register, 1973-2009, among all men born in Sweden 1961-1975 (N = 700,514. Using probit regression, we controlled for measured childhood socioeconomic variables, and further employed sibling comparisons (family pedigree data from the Multi-Generation Register to adjust for shared familial characteristics. RESULTS: Cognitive ability in early adulthood was inversely associated to having been convicted of a violent crime (β = -0.19, 95% CI: -0.19; -0.18, the association remained when adjusting for childhood socioeconomic factors (β = -0.18, 95% CI: -0.18; -0.17. The association was somewhat lower within half-brothers raised apart (β = -0.16, 95% CI: -0.18; -0.14, within half-brothers raised together (β = -0.13, 95% CI: (-0.15; -0.11, and lower still in full-brother pairs (β = -0.10, 95% CI: -0.11; -0.09. The attenuation among half-brothers raised together and full brothers was too strong to be attributed solely to attenuation from measurement error. DISCUSSION: Our results suggest that the association between general cognitive ability and violent criminality is confounded partly by factors shared by

  3. A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    CHEING Chor Kwan; LAU Kwok Kwong; YU Kwok Wai; CHAN Yan Wo Albert; MAK Miu Chloe

    2010-01-01

    @@ Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathies, comprises a genetically heterogeneous group of inherited peripheral neuropathies. Clinically it is characterized by progressive distal weakness, muscle atrophy, distal sensory loss and loss of deep tendon reflexes. Following electrophysiological criteria, CMT is divided into two main forms: the primarily demyelinating neuropathy CMT1 with severely decreased nerve conduction velocity (NCV) (38 m/s) but decreased amplitudes.1 CMT2A, an autosomal dominant disease caused by mitofusin 2 gene (MFN2) mutations, is the most common type of CMT2, accounting for up to 33% of familial CMT2 cases.2 We reported a patient with clinical diagnosis of CMT2 caused by a novel MFN2 mutation. To our knowledge, this is a relatively early report of genetically confirmed CMT2A in Chinese.

  4. A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.

    Science.gov (United States)

    Peng, Hao; Zhang, Yuhui; Long, Zhigao; Zhao, Ding; Guo, Zhenxin; Xue, Jinjie; Xie, Zhiguo; Xiong, Zhimin; Xu, Xiaojuan; Su, Wei; Wang, Bing; Xia, Kun; Hu, Zhengmao

    2012-07-10

    Osteogenesis imperfect (OI) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation, accompanied by short stature, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, blue sclerae and hearing loss. Dominant form of OI is caused by mutations in the type I procollagen genes, COL1A1/A2. Here we identified a novel splicing mutation c.3207+1G>A (GenBank ID: JQ236861) in the COL1A1 gene that caused type I OI in a Chinese family. RNA splicing analysis proved that this mutation created a new splicing site at c.3200, and then led to frameshift. This result further enriched the mutation spectrum of type I procollagen genes. PMID:22565191

  5. Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.

    Science.gov (United States)

    Liu, Ying; Yu, Xiaoyan; Wang, Lei; Li, Chang; Archacki, Stephen; Huang, Changzheng; Liu, Jing Yu; Wang, Qing; Liu, Mugen; Tang, Zhaohui

    2012-01-10

    X-linked recessive hypohidrotic ectodermal dysplasia (XLHED) is characterized by the defective morphogenesis of teeth, hair, and eccrine sweat glands. It is associated with mutations in the EDA gene. Up to now, more than 100 mutations in the EDA gene have been reported to cause XLHED. The product of EDA gene is a trimeric type II transmembrane protein that belongs to the tumor necrosis factor (TNF) family of ligands. In this study, we identified a Chinese family with XLHED. Direct DNA sequencing of the whole coding region of EDA revealed a novel missense mutation, p.Leu354Pro in a patient affected with XLHED. This mutation was not found in either unaffected male individuals of the family or 168 normal controls. The substitution of Leu354 with Pro was found to be located in the TNF-like domain of EDA and may influence the epithelial signaling pathway required for the normal ectodermal development through altering the topology of EDA. Our finding broadens the spectrum of EDA mutations and may help to understand the molecular basis of XLHED and aid genetic counseling. PMID:22008666

  6. Repetitive training for ameliorating upper limbs spasm of hemiplegic patients

    Institute of Scientific and Technical Information of China (English)

    Lin Zhu; Lin Liu; Weiqun Song

    2006-01-01

    BACKGROUND:The main aim of rehabilitation is to ameliorate motor function and use the damaged limbs in the activities of daily living.Several factors are needed in the self-recovery of the patients,and the most important one is to reduce spasm.Some mechanical repetitive movements can affect and change the excitability of motor neurons.OBJECTIVE:To observe the effect of repetitive training on ameliorating spasm of upper limbs of hemiplegic patients.DESIGN:A self-controlled observation before and after training.SETTING:Department of Rehabilitation,Xuanwu Hospital of Capital Medical University.PARTICI PANTS: Seven hemiplegic patients induced by brain injury were selected from the Department of Rehabilitation,Xuanwu Hospital,Capital Medical University from March to June in 2005.Inclusive criteria:①Agreed and able to participate in the 30-minute training of hand function; ②Without disturbance of understanding.The patients with aphasia or apraxia,manifestation of shoulder pain,and severe neurological or mental defects.For the 7 patients,the Rivermead motor assessment(RMA)scores ranged 0-10 points,the Rivermead mobility index(RMI)ranged 1-3,and modified Ashworth scale(MAS)was grade 2-4.Their horizontal extension of shoulder joint was 0°-30°,anteflextion was 0°-50°,internal rotation was 50°-90°,external rotation was 0°-10°:and the elbow joint could extend for 15°-135°.METHODS:The viva 2 serial MOTOmed exerciser(Reck Company,Germany)was used.There were three phases of A-B-A.①The phase A lasted for 1 week.The patient sat on a chair facting to the MOTOmed screen.and did the circumduction of upper limbs forwardly,30 minutes a day and 5 days a week.②The phase B lasted for 3 weeks.The training consisted of forward circumduction of upper limbs for 15 minutes.followed by backward ones for 15 minutes and 5-minute rest.③The training in the phase A was performed again for 2 weeks.The extensions of upper limbs were recorded at phase A,the extension and flexion of

  7. APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

    Directory of Open Access Journals (Sweden)

    Dussaillant Catalina

    2012-11-01

    Full Text Available Abstract Background Severe hypertriglyceridemia (HTG has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma levels (>112 mmol/L at diagnosis were found in two sisters of a Chilean consanguineous family, which is strongly suggestive of a recessive highly penetrant mutation. The aim of this study was to determine the genetic locus responsible for the severe HTG in this family. Methods We carried out a genome-wide linkage study with nearly 300,000 biallelic markers (Illumina Human CytoSNP-12 panel. Using the homozygosity mapping strategy, we searched for chromosome regions with excess of homozygous genotypes in the affected cases compared to non-affected relatives. Results A large homozygous segment was found in the long arm of chromosome 11, with more than 2,500 consecutive homozygous SNP shared by the proband with her affected sister, and containing the APOA5/A4/C3/A1 cluster. Direct sequencing of the APOA5 gene revealed a known homozygous nonsense Q97X mutation (p.Gln97Ter found in both affected sisters but not in non-affected relatives nor in a sample of unrelated controls. Conclusion The Q97X mutation of the APOA5 gene in homozygous status is responsible for the severe hypertriglyceridemia in this family. We have shown that homozygosity mapping correctly pinpointed the genomic region containing the gene responsible for severe hypertriglyceridemia in this consanguineous Chilean family.

  8. A novel fibrinogen mutation (γ Thr277Arg) causes hereditary hypofibrinogenemia in a Chinese family.

    Science.gov (United States)

    Zhu, Liqing; Wang, Mingshan; Xie, Haixiao; Jin, Yanhui; Yang, Lihong; Xu, Pengfei

    2013-09-01

    Congenital hypofibrinogenemia is a rare disorder caused by heterozygous mutations in one of the three fibrinogen genes--fibrinogen α-chain (FGA), fibrinogen β-chain (FGB) and fibrinogen γ-chain (FGG)--which code for the Aα, Bβ and γ chains, respectively. In this study, we identified a genetic defect in the FGG underlying the hypofibrinogenemia. The proposita had a prolonged blood clotting time (thrombin time 24.5 s, prothrombin time 16.8 s) and a low level of plasma fibrinogen (0.71 g/l by Clauss method and 0.79 g/l by immunoturbidimetry). DNA screening of the whole fibrinogen gene revealed a heterozygous GC mutation at nucleotide 7482 in her FGG gene. Her father and her half-brother are also heterozygous for this mutation. This mutation contributes to Thr277 → Arg in the γ chain of fibrinogen. To the best of our knowledge, this is the first report of such a mutation that is associated with hypofibrinogenemia.

  9. Differences in standing balance between patients with diplegic and hemiplegic cerebral palsy.

    Science.gov (United States)

    Rojas, Valeska Gatica; Rebolledo, Guillermo Méndez; Muñoz, Eduardo Guzman; Cortés, Natalia Ibarra; Gaete, Caterine Berrios; Delgado, Carlos Manterola

    2013-09-15

    Maintaining standing postural balance is important for walking and handling abilities in patients with cerebral palsy. This study included 23 patients with cerebral palsy (seven with spastic diplegia and 16 with spastic hemiplegia), aged from 7 to 16 years of age. Standing posture balance measurements were performed using an AMTI model OR6-7 force platform with the eyes open and closed. Patients with diplegic cerebral palsy exhibited greater center of pressure displacement areas with the eyes open and greater center of pressure sway in the medial-lateral direction with the eyes open and closed compared with hemiplegic patients. Thus, diplegic patients exhibited weaker postural balance control ability and less standing stability compared with hemiplegic cerebral palsy patients.

  10. Effects of auditory feedback during gait training on hemiplegic patients' weight bearing and dynamic balance ability.

    Science.gov (United States)

    Ki, Kyong-Il; Kim, Mi-Sun; Moon, Young; Choi, Jong-Duk

    2015-04-01

    [Purpose] This study examined the effects of auditory feedback during gait on the weight bearing of patients with hemiplegia resulting from a stroke. [Subjects] Thirty hemiplegic patients participated in this experiment and they were randomly allocated to an experimental group and a control group. [Methods] Both groups received neuro-developmental treatment for four weeks and the experimental group additionally received auditory feedback during gait training. In order to examine auditory feedback effects on weight bearing during gait, a motion analysis system GAITRite was used to measure the duration of the stance phase and single limb stance phase of the subjects. [Results] The experimental group showed statistically significant improvements in the duration of the stance phase and single limb stance phase of the paretic side and the results of the Timed Up and Go Test after the training. [Conclusion] Auditory feedback during gait training significantly improved the duration of the stance phase and single limb stance phase of hemiplegic stroke patients.

  11. Differences in standing balance between patients with diplegic and hemiplegic cerebral palsy*

    Institute of Scientific and Technical Information of China (English)

    Valeska Gatica Rojas; Guillermo Mndez Rebolledo; Eduardo Guzman Muoz; Natalia Ibarra Corts; Caterine Berrios Gaete; Carlos Manterola Delgado

    2013-01-01

    Maintaining standing postural balance is important for walking and handling abilities in patients with cerebral palsy. This study included 23 patients with cerebral palsy (seven with spastic diplegia and 16 with spastic hemiplegia), aged from 7 to 16 years of age. Standing posture balance measure-ments were performed using an AMTI model OR6-7 force platform with the eyes open and closed. Patients with diplegic cerebral palsy exhibited greater center of pressure displacement areas with the eyes open and greater center of pressure sway in the medial-lateral direction with the eyes open and closed compared with hemiplegic patients. Thus, diplegic patients exhibited weaker postural balance control ability and less standing stability compared with hemiplegic cerebral palsy patients.

  12. HIPPOTHERAPY SIMULATOR AS ALTERNATIVE METHOD FOR HIPPOTHERAPY TREATMENT IN HEMIPLEGIC CHILDREN

    Directory of Open Access Journals (Sweden)

    Mohamed Ali Elshafey

    2014-04-01

    Full Text Available Background: Hippotherapy considered as worldwide techniques used in rehabilitation of children with neurological disorders as it improved gait pattern, balance, postural control, strengthen, range of motion and gross and fine motor skills development but it encounter some technical problems. Purpose: The purpose of the current study was to compare between hippotherapy and hippotherapy simulators effect on back geometry and balance in hemiplegic children. Materials and Methods: Thirty ambulant hemiplegic children, their age ranges from four to six years old participated in this study. They were randomly divided into two matched groups (control and study. The control group treated with hippotherapy for half hour in addition to the selected physical therapy program, while the study group treated with hippotherapy simulators for half hour in addition to the selected physical therapy program also. All children received the treatment three times weekly for three successive months. Spinal geometry were evaluated by Formatric instrumentation systems and balance were evaluated by pediatric balance scale before and after treatment Results: There was significant improvement in all the measured variables for both groups after comparing of their pre and post-treatment mean values with non-significant difference between both groups post treatment. Conclusion: Hippotherapy simulators is an alternative method for hippotherapy could be used for modulation of back geometry and for improving balance in hemiplegic children. Brief summary and potential implication: Hippotherapy simulator was used in treatment of back geometry and balance in hemiplegic children, all the measurements were compared with hippotherapy. The results were nearly the same in both groups.

  13. Mimetic orthosis for lower limbs to be applied on rehabilitation for hemiplegic persons

    OpenAIRE

    P.S. Luna; E. Cardiel; R. Muñoz; Urrutia, R.; Villanueva, D.; P.R.Hernández

    2008-01-01

    A rehabilitation tool based on an innovative mimetic active orthosis for hemiplegics is presented. It follows concepts of neuronal learning from afferent information from movements, similar to those lost after brain damage. An artificial gait pattern is applied on knee and hip articulations of a functional modified limb by using an exoskeleton powered by pneumatic muscles. Key Words: Key Words: Key Words: Key Words: Key Words: Active orthosis, mimetic orthosis, gait rehabilitation.

  14. Reduction of common motoneuronal drive on the affected side during walking in hemiplegic stroke patients

    DEFF Research Database (Denmark)

    Nielsen, Jens Bo; Brittain, John-Stuart; Halliday, David M.;

    2008-01-01

    OBJECTIVE: The objective of this study was to use motor unit coupling in the time and frequency domains to obtain evidence of changes in motoneuronal drive during walking in subjects with stroke. METHODS: Paired tibialis anterior (TA) EMG activity was sampled during the swing phase of treadmill w...... on the affected side in hemiplegic patients during walking. SIGNIFICANCE: This is of importance for understanding the mechanisms responsible for reduced gait ability and development of new strategies for gait restoration....

  15. Sporadic hemiplegic migraine in children: A report of two new cases

    Directory of Open Access Journals (Sweden)

    Chakravarty A

    2010-01-01

    Full Text Available Two cases of sporadic hemiplegic migraine, which fulfilled the diagnostic criteria as laid down in International Classification of Headache Disorders (ICHD-2, are reported in children. In the first case, two unusual features were noted, namely, the occurrence of dysphsia in association with a left hemiparesis and the spread of sensory symptoms to the contralateral side during attacks. The second case is perhaps the youngest patient reported with this disorder.

  16. Fear of Falling in Subacute Hemiplegic Stroke Patients: Associating Factors and Correlations with Quality of Life

    OpenAIRE

    Kim, Eun Joo; Kim, Doo Young; Kim, Wan Ho; Lee, Kwang Lae; Yoon, Yong Hoon; Park, Jeong Mi; Shin, Jung In; Kim, Seong Kyu; Kim, Dong Goo

    2012-01-01

    Objective To determine the associating factors of fear of falling (FOF) and the correlations between FOF and quality of life (QOL) on subacute stroke patients in Korea. Method Fifty hemiplegic subacute stroke patients in our clinic were recruited. We directly asked patients with their fear of falling and interviewed them with the Korean version of falls efficacy scale-international (KFES-I). We divided the participants into two groups; with FOF and without FOF. We compared these groups with t...

  17. The Influence of Laterality of Pharyngeal Bolus Passage on Dysphagia in Hemiplegic Stroke Patients

    OpenAIRE

    Kim, Min Seok; Lee, Seong Jae; Kim, Tae Uk; Seo, Dong Hyuk; Hyun, Jung Keun; Kim, Jae Il

    2012-01-01

    Objective To investigate swallowing laterality in hemiplegic patients with stroke and recovery of dysphagia according to the laterality. Method The sample was comprised of 46 dysphagic patients with hemiplegia after their first stroke. The sample's videofluoroscopic swallowing study (VFSS) was reviewed. Swallowing laterality was determined by the anterior-posterior view of VFSS. We measured width difference of barium sulfate liquid flow in the pharyngoesophageal segment. If there was double o...

  18. Ultrasonographic and clinical study of post-stroke painful hemiplegic shoulder

    OpenAIRE

    Rania E. Mohamed; Mohamed A. Amin; Ashraf A. Aboelsafa

    2014-01-01

    Aim of the work: To describe the structural abnormalities of the painful hemiplegic shoulder (PHS) by ultrasound (U/S) and their relationship with some clinical variables. Materials and methods: Eighty consecutive patients with post-stroke PHS were subjected to both clinical assessment and ultrasonographic examination of both shoulders. Ultrasonographic imaging data were classified into five grades. Results: The biceps tendon sheath effusion (51.25%) and the SA–SD bursitis (43.75%) were...

  19. Loss of function of Slc20a2 associated with familial idiopathic basal ganglia calcification in humans causes brain calcifications in mice

    DEFF Research Database (Denmark)

    Jensen, Nina; Daa Schrøder, Henrik; Kildall Hejbøl, Eva;

    2013-01-01

    Familial idiopathic basal ganglia calcification (FIBGC) is a neurodegenerative disorder with neuropsychiatric and motor symptoms. Deleterious mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), were recently linked to FIBGC in almost 50 % of the families...... reported worldwide. Here, we show that knockout of Slc20a2 in mice causes calcifications in the thalamus, basal ganglia, and cortex, demonstrating that reduced PiT2 expression alone can cause brain calcifications....

  20. Tibial somatosensory evoked potential can prognosticate for ambulatory function in subacute hemiplegic stroke.

    Science.gov (United States)

    Hwang, Pyoungsik; Sohn, Min Kyun; Kim, Cuk-Seong; Jee, Sungju

    2016-04-01

    Early prediction of expected recovery in stroke can help in planning appropriate medical and rehabilitation interventions. Recovery of ambulation is one of the essential endpoints in stroke rehabilitation. However, the correlation of somatosensory evoked potentials (SSEP) with clinical parameters and their predictive significance are not clearly defined. We aimed to examine the association between tibial nerve SSEP and ambulatory outcomes in subacute hemiplegic stroke patients. We reviewed medical records for hemiplegic patients with first-ever stroke who received inpatient rehabilitation from January 2009 to May 2013. We excluded patients with diabetes mellitus, quadriplegia, bilateral lesions, brainstem lesions, those aged over 80 years, and those with severe musculoskeletal problems. Tibial nerve SSEP were performed when they were transferred to the rehabilitation department. SSEP findings were divided into three groups; normal, abnormal and absent response. Berg balance scale and functional ambulation category (FAC) at discharge were compared with initial tibial SSEP findings using one-way analysis of variance. Thirty-one hemiplegic patients were included. Berg balance scale and FAC were significantly different according to the SSEP (Phemiplegic patients.

  1. The effects of gait velocity on the gait characteristics of hemiplegic patients.

    Science.gov (United States)

    You, Young Youl; Chung, Sin Ho

    2015-03-01

    [Purpose] The present study investigated the effects of gait speed on temporal and spatial gait characteristics of hemiplegic stroke patients. [Subjects and Methods] Twenty post-stroke hemiplegic patients participated in the present study. To enhance the reliability of the analysis of the gait characteristics, the assessments were conducted three days per week at the same time every day. Each subject walked maintaining a comfortable speed for the first minute, and measurement was conducted for 30 seconds at a treadmill speed of 1 km/hour thereafter. Then, the subjects walked at a treadmill speed of 2 km/hour for 30 seconds after a 30-minute rest. The differences in the measurements were tested for significance using the paired t-test. [Results] The measures of foot rotation, step width, load response, mid stance, pre-swing, swing phase, and double stance phase showed significant difference between the gait velocities. [Conclusion] The present study provides basic data for gait velocity changes for hemiplegic patients.

  2. Evaluation of motor performances of hemiplegic patients using a virtual cycling wheelchair: an exploratory trial.

    Science.gov (United States)

    Sugita, Norihiro; Yoshizawa, Makoto; Kojima, Yoshihisa; Abe, Makoto; Homma, Noriyasu; Seki, Kazunori; Handa, Nobuyasu

    2013-01-01

    Cycling is known to be an effective rehabilitation exercise for hemiplegic patients who face difficulty during walking because of stroke or other brain disorders. A cycling wheelchair (CWC) is a useful tool to provide exercise for these patients and improve their quality of life. In previous studies, our group developed a system that allows patients to safely practice driving a CWC in a virtual environment. However, it has been difficult to check their motor performances and determine the effects of the exercise on a daily basis. This study is an exploratory trial for developing a method to evaluate the motor performances of users based on their CWC pedaling patterns. An experiment with some hemiplegic patients and healthy subjects was conducted and their pedaling patterns were analyzed. Results showed a significant difference between the hemiplegic patients and healthy subjects in an index that reflects pedaling balance between the feet. This result indicates a possible method of evaluating the motor performances of users based on their pedaling patterns.

  3. Approaches for improving the toileting problems of hemiplegic stroke patients with poor standing balance.

    Science.gov (United States)

    Koike, Yuji; Sumigawa, Koshi; Koeda, Shuhei; Shiina, Miyuki; Fukushi, Haruka; Tsuji, Takahiro; Hara, Chisaya; Tsushima, Hitoshi

    2015-03-01

    [Purpose] Our objective was to evaluate the residual dynamic and static functionality in the sitting position of hemiplegic stroke patients who require help to pull their lower garments up and down during toileting. [Subjects and Methods] The subjects were 11 hemiplegic patients. We gathered data on the patients' motor paralysis, sensory capacity, lower extremity muscle strength, trunk control, ability to roll and sit up from a lying position, sitting balance, and ability to pull the lower garments up and down. We then compared 2 groups: those able to pull the lower garments up and down independently while standing (the "independent group"), and those who were unable to do so (the "non-independent group"). [Results] Though the non-independent group had severely and significantly reduced trunk control and abilities as a whole, there was no significant difference from the independent group in static and dynamic sitting balance. [Conclusion] We conclude that, to enable hemiplegic patients with poor standing balance to pull their lower garments up and down, it is necessary to do these maneuvers in a sitting, rather than a standing, position, or to develop garments that are easier to put on and take off.

  4. A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.

    Science.gov (United States)

    Hussain, Rashida; Daud, Shakeela; Kakar, Naseebullah; Ahmad, Adeel; Baloch, Abdul Hameed; Tareen, Abdul Malik; Kakar, Muhammad Azam; Ahmad, Jamil

    2012-05-01

    Canavan disease (OMIM 271900) is an autosomal recessive lethal neurodegenerative disorder characterized by spongy degeneration of the brain. A highly consanguineous Pakistani family with Canavan disease was enrolled on the basis of diagnosis. All the affected individuals have mental retardation, megalocephaly and degradation of motor skills, poor head control, partial vision loss, weakness of the muscles and raised urinary concentration of N-acetyl aspartic acid in the urine. Blood samples were collected from affected as well as normal siblings and processed for DNA purification. Linkage analysis was performed by typing three short tandem repeat markers D17S1583 (7.19 cM), D17S1828 (10.02 cM) and D17S919 (14.69 cM) for an already-reported gene/locus ASPA at chromosome 17p13.2 causing Canavan disease. During linkage analysis, all the affected individuals were homozygous for short tandem repeat markers while the normal siblings were heterozygous showing co-segregation of the disease. Gene ASPA (NM_000049) was undertaken to sequence for mutation analysis. As a result of sequence analysis, we found missense substitution 740A→G (p.G274R) in exon 6 of gene ASPA. To our knowledge, this is the first report about Canavan disease on a Pakistani family. PMID:22219087

  5. Incidental Identification of Possible Delta-Beta Thalassemia Trait in a Family: A Rare Cause of Elevated Hb F.

    Science.gov (United States)

    Kumar, B Vinodh; Choccalingam, Chidambharam; Samuel, Premila

    2016-03-01

    Delta-Beta thalassaemia is an unusual variant of thalassaemia with elevated level of foetal haemoglobin (HbF). The clinical presentation of delta-beta thalassaemia is mild in both heterozygote and homozygote cases. We hereby describe a rare cause of elevated Hb F in a father and his two daughters. A 52-year-old diabetic male patient, on evaluation of chromatogram of cation exchange HPLC for HbA1c, we incidentally identified elevated Hb F of approximately 20%. Haematological investigation of the patient revealed decreased haemoglobin, normal RBC, leucocyte and platelet count, decreased MCV and MCH. Red cell morphology showed predominantly normocytic normochromic cells with mild anisopoikilocytosis, few microcytes and hypochromic cells seen. His liver function test was normal. Haemoglobin variant analysis revealed decreased Hb A (79.4%), normal Hb A2 (2%) and increased Hb F (19.75%). A possible diagnosis of heterozygous δ β-thalassaemia was considered. Since most laboratories perform HbA1c by cation exchange HPLC method, a careful evaluation of the chromatogram yields useful information. In our case, the elevated Hb F in a father and further careful evaluation of clinical and haematological parameters in the family members made us to possibly think of rare disorders like heterozygous Delta-Beta thalassaemia in the family and provide valuable genetic counseling. PMID:27134860

  6. Polyuria and polydipsia in a young child: diagnostic considerations and identification of novel mutation causing familial neurohypophyseal diabetes insipidus.

    Science.gov (United States)

    Stephen, Matthew D; Fenwick, Raymond G; Brosnan, Patrick G

    2012-12-01

    A 3-year 5-month-old boy was seen for second opinion regarding polydipsia and polyuria. Previously, a diagnosis of primary polydipsia was made after normal urine concentration after overnight water deprivation testing. The boy's father, paternal grandfather, and paternal aunt had diabetes insipidus treated with desmopressin acetate. Based on this young boy's symptoms, ability to concentrate urine after informal overnight water deprivation, and family history of diabetes insipidus, we performed AVP gene mutation testing. Analysis of the AVP gene revealed a novel mutation G54E that changes a normal glycine to glutamic acid, caused by a guanine to adenine change at nucleotide g.1537 (exon 2) of the AVP gene. Commonly, patients with familial neurohypophyseal diabetes insipidus (FNHDI) present within the first 6 years of life with progressively worsening polyuria and compensatory polydipsia. Since these patients have progressive loss of arginine vasopressin (AVP), they may initially respond normally to water deprivation testing and have normal pituitary findings on brain MRI. Genetic testing may be helpful in these patients, as well as preemptively diagnosing those with a mutation, thereby avoiding unnecessary surveillance of those unaffected. PMID:20401697

  7. Incidental Identification of Possible Delta-Beta Thalassemia Trait in a Family: A Rare Cause of Elevated Hb F.

    Science.gov (United States)

    Choccalingam, Chidambharam; Samuel, Premila

    2016-01-01

    Delta-Beta thalassaemia is an unusual variant of thalassaemia with elevated level of foetal haemoglobin (HbF). The clinical presentation of delta-beta thalassaemia is mild in both heterozygote and homozygote cases. We hereby describe a rare cause of elevated Hb F in a father and his two daughters. A 52-year-old diabetic male patient, on evaluation of chromatogram of cation exchange HPLC for HbA1c, we incidentally identified elevated Hb F of approximately 20%. Haematological investigation of the patient revealed decreased haemoglobin, normal RBC, leucocyte and platelet count, decreased MCV and MCH. Red cell morphology showed predominantly normocytic normochromic cells with mild anisopoikilocytosis, few microcytes and hypochromic cells seen. His liver function test was normal. Haemoglobin variant analysis revealed decreased Hb A (79.4%), normal Hb A2 (2%) and increased Hb F (19.75%). A possible diagnosis of heterozygous δ β-thalassaemia was considered. Since most laboratories perform HbA1c by cation exchange HPLC method, a careful evaluation of the chromatogram yields useful information. In our case, the elevated Hb F in a father and further careful evaluation of clinical and haematological parameters in the family members made us to possibly think of rare disorders like heterozygous Delta-Beta thalassaemia in the family and provide valuable genetic counseling. PMID:27134860

  8. STUDIES OF LYMPHOCYTE SUBSETS IN PATIENTS WITH A MIXED INFECTION CAUSED BY THE VIRUSES FROM HERPESVIRIDAE FAMILY

    Directory of Open Access Journals (Sweden)

    T. I. Dolgikh

    2010-01-01

    Full Text Available Present work deals with specific immunologic changes that are typical to various types of mixed infection caused by viruses from Herpesviridae family during their activation phase. These changes include increased amounts of CD3+/CD25+ lymphocytes and CD3+/CD4+ cells, decreased levels of CD3+/CD95+ cells, increased contents of natural killer cells, altered interrelations between the immune system parameters. Involvement of cytomegalovirus or Epstein-Barr virus (EBV in the mixed infection is associated with some special changes of the lymphocyte subsets. I.e., a co-infection with herpes virus simplex (HSV type 1/2 and cytomegalovirus is characterized by increased amounts of activated T-lymphocytes and T-helper cells, whereas mixed HSV/EBV infection is accompanied by sharp reduction in CD3+/CD95+ lymphocytes.

  9. Multiple splice defects in ABCA1 cause low HDL-C in a family with Hypoalphalipoproteinemia and premature coronary disease

    Directory of Open Access Journals (Sweden)

    Miller Michael

    2009-01-01

    Full Text Available Abstract Background Mutations at splice junctions causing exon skipping are uncommon compared to exonic mutations, and two intronic mutations causing an aberrant phenotype have rarely been reported. Despite the high number of functional ABCA1 mutations reported to date, splice variants have been reported infrequently. We screened DNA from a 41 year-old male with low HDL-C (12 mg/dL [0.31 mmol/L] and a family history of premature coronary heart disease (CHD using polymerase chain reaction single-strand conformation polymorphism (SSCP analysis. Methods Family members with low levels of HDL-C (n = 6 were screened by SSCP for mutations in ABCA1. Samples with altered SSCP patterns were sequenced directly using either an ABI 3700 or ABI3730Xl DNA Analyzer. To screen for splicing defects, cDNA was isolated from the proband's RNA and was sequenced as above. A series of minigenes were constructed to determine the contribution of normal and defective alleles. Results Two novel splice variants in ABCA1 were identified. The first mutation was a single base pair change (T->C in IVS 7, 6 bps downstream from the exon7/intron7 junction. Amplification of cDNA and allelic subcloning identified skipping of Exon 7 that results in the elimination of 59 amino acids from the first extracellular loop of the ABCA1 protein. The second mutation was a single base pair change (G->C at IVS 31 -1, at the intron/exon junction of exon 32. This mutation causes skipping of exon 32, resulting in 8 novel amino acids followed by a stop codon and a predicted protein size of 1496 AA, compared to normal (2261 AA. Bioinformatic studies predicted an impact on splicing as confirmed by in vitro assays of constitutive splicing. Conclusion In addition to carnitine-acylcarnitine translocase (CACT deficiency and Hermansky-Pudlak syndrome type 3, this represents only the third reported case in which 2 different splice mutations has resulted in an aberrant clinical phenotype.

  10. Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.

    Science.gov (United States)

    El Khouri, Elma; Thomas, Lucie; Jeanson, Ludovic; Bequignon, Emilie; Vallette, Benoit; Duquesnoy, Philippe; Montantin, Guy; Copin, Bruno; Dastot-Le Moal, Florence; Blanchon, Sylvain; Papon, Jean François; Lorès, Patrick; Yuan, Li; Collot, Nathalie; Tissier, Sylvie; Faucon, Catherine; Gacon, Gérard; Patrat, Catherine; Wolf, Jean Philippe; Dulioust, Emmanuel; Crestani, Bruno; Escudier, Estelle; Coste, André; Legendre, Marie; Touré, Aminata; Amselem, Serge

    2016-08-01

    Primary ciliary dyskinesia (PCD) is an autosomal-recessive disease due to functional or ultra-structural defects of motile cilia. Affected individuals display recurrent respiratory-tract infections; most males are infertile as a result of sperm flagellar dysfunction. The great majority of the PCD-associated genes identified so far encode either components of dynein arms (DAs), which are multiprotein-ATPase complexes essential for ciliary motility, or proteins involved in DA assembly. To identify the molecular basis of a PCD phenotype characterized by central complex (CC) defects but normal DA structure, a phenotype found in ∼15% of cases, we performed whole-exome sequencing in a male individual with PCD and unexplained CC defects. This analysis, combined with whole-genome SNP genotyping, identified a homozygous mutation in DNAJB13 (c.833T>G), a gene encoding a HSP40 co-chaperone whose ortholog in the flagellated alga Chlamydomonas localizes to the radial spokes. In vitro studies showed that this missense substitution (p.Met278Arg), which involves a highly conserved residue of several HSP40 family members, leads to protein instability and triggers proteasomal degradation, a result confirmed by the absence of endogenous DNAJB13 in cilia and sperm from this individual. Subsequent DNAJB13 analyses identified another homozygous mutation in a second family; the study of DNAJB13 transcripts obtained from airway cells showed that this mutation (c.68+1G>C) results in a splicing defect consistent with a loss-of-function mutation. Overall, this study, which establishes mutations in DNAJB13 as a cause of PCD, unveils the key role played by DNAJB13 in the proper formation and function of ciliary and flagellar axonemes in humans. PMID:27486783

  11. Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia

    DEFF Research Database (Denmark)

    Jensen, H K; Jensen, T G; Jensen, L G;

    1994-01-01

    Danish heterozygous FH patients. We identified six persons in the index families with the Glu119-Lys mutation cosegregating with the clinical syndrome of FH in these families. Furthermore, haplotype analysis revealed that the haplotype [SfaNI+, StuI+, AvaII-, (dTA)7] of the mutation carrying allele...

  12. Functional electrical stimulation based on a pelvis support robot for gait rehabilitation of hemiplegic patients after stroke.

    Science.gov (United States)

    Ye, Jing; Nakashima, Yasutaka; Zhang, Bo; Kobayashi, Yo; Fujie, Masakatsu G

    2014-01-01

    More and more stroke survivors are suffering from physical motor impairments. Current therapeutic interventions have various limits to the efficient recovery of normal motor function of the lower limbs. Therefore, we propose a novel gait rehabilitation system for hemiplegic patients after stroke. It integrates functional electrical stimulation (FES) with a pelvis-supporting robotic system. A corresponding relationship between the gait phase and the active lateral movement of the pelvis is first constructed from experiments on simulated hemiplegic patients. By estimating the gait phase from the lateral motion of the pelvis based on this relationship, the timing of FES sent to the muscles of the lower limbs can be automatically determined during a gait cycle. After experiments on simulated hemiplegic stroke survivors with the FES control algorithm, the proposed algorithm and the gait rehabilitation system are verified to be feasible and promising.

  13. Psychometric Properties of the Lower Extremity Subscale of the Fugl-Myer Assessment for Community-dwelling Hemiplegic Stroke Patients.

    Science.gov (United States)

    Park, Eun Young; Choi, Yoo Im

    2014-11-01

    [Purpose] The purpose of this study was to investigate the psychometric properties of the lower extremity subscale of the Fugl-Meyer Assessment lower extremity (FMA-LE) for community-dwelling hemiplegic stroke patients. [Subjects] The participants were 140 community-dwelling hemiplegic stroke patients. [Methods] To determine the psychometric properties of the FMA-LE, we examined construct validity, response characteristics, item discrimination, and internal consistency. [Results] Factor analysis of the FMA-LE revealed that the first factor explained 61.73% of the variance and provided evidence of unidimensionality. The FMA-LE did not show ceiling or floor effects; Cronbach's α was 0.935 (95% CI: 0.919-0.950). [Conclusion] Because the FMA-LE seems to be both valid and reliable, we conclude that it is appropriate for the measurement of the lower extremity motor impairment of community-dwelling hemiplegic stroke patients.

  14. Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment

    Institute of Scientific and Technical Information of China (English)

    Hong-Yang Wang; Ya-Li Zhao; Qiong Liu; Hu Yuan; Yun Gao; Lan Lan; Lan Yu

    2015-01-01

    Background: There are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI), including 92 causative genes for nonsyndromic hearing loss, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI).Traditional linkage analysis and candidate gene sequencing are not effective at detecting the ADNSHHI, especially for the unconditional families that may have more than one pathogenic cause.This study identified two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional ADNSHHI.Methods: To decipher the genetic code of a Chinese family (family 686) with ADNSHHI, different gene screening techniques have been performed, including linkage analysis, candidate genes screening, high-throughput sequencing and Sanger sequencing.These techniques were done on samples obtained from this family over a period of 10 years.Results: We identified a pathogenic missense mutation, c.2081G>A (p.G694E), in TJP2, a gene that plays a crucial role in apoptosis and age-related hearing loss (ARHL).The mutation was co-segregated in this pedigree in all, but not in the two patients who presented with different phenotypes from the other affected family members.In one of the two patients, we confirmed that the compound heterozygosity for p.Y136* and p.G45E in the GJB2 gene may account for the phenotype shown in this patient.Conclusions: We identified the co-occurrence of two genetic causes in family 686.The possible disease-causing missense mutation of TJP2 in family 686 presents an opportunity for further investigation into ARHL.It is necessary to combine various genes screening methods, especially for some unconventional cases.

  15. Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members.

    Science.gov (United States)

    Zhuang, Lei; Gerber, Simon D; Kuchen, Stefan; Villiger, Peter M; Trueb, Beat

    2016-01-01

    Multiple osteochondromas (also called hereditary multiple exostoses) is an autosomal dominant disorder characterized by multiple cartilaginous tumors, which are caused by mutations in the genes for exostosin-1 (EXT1) and exostosin-2 (EXT2). The goal of this study was to elucidate the genetic alterations in a family with three affected members. Isolation of RNA from the patients' blood followed by reverse transcription and PCR amplification of selected fragments showed that the three patients lack a specific region of 90 bp from their EXT1 mRNA. This region corresponds to the sequence of exon 8 from the EXT1 gene. No splice site mutation was found around exon 8. However, long-range PCR amplification of the region from intron 7 to intron 8 indicated that the three patients contain a deletion of 4318 bp, which includes exon 8 and part of the flanking introns. There is evidence that the deletion was caused by non-homologous end joining because the breakpoints are not located within a repetitive element, but contain multiple copies of the deletion hotspot sequence TGRRKM. Exon 8 encodes part of the active site of the EXT1 enzyme, including the DXD signature of all UDP-sugar glycosyltransferases. It is conceivable that the mutant protein exerts a dominant negative effect on the activity of the EXT glycosyltransferase since it might interact with normal copies of the enzyme to form an inactive hetero-oligomeric complex. We suggest that sequencing of RNA might be superior to exome sequencing to detect short deletions of a single exon.

  16. Development and evaluation of one-hand drivable manual wheelchair device for hemiplegic patients.

    Science.gov (United States)

    Jung, Hwa S; Park, Gemus; Kim, Young-Shim; Jung, Hyung-Shik

    2015-05-01

    This study was conducted for one-hand users including hemiplegic clients currently using standard manual wheelchairs, so as to analyze their specific problems and recommend solutions regarding usage. Thirty hemiplegic clients who were admitted to rehabilitation and convalescent hospitals participated as subjects. The research tools were standard manual wheelchairs commonly used by people with impaired gait and a "one-hand drivable manual wheelchair," which was developed for this study. The Wheelchair Skills Test (WST) was adopted for the objective assessment tool, while drivability, convenience, difference, and acceptability were developed for the subjective evaluation tools. The assessment procedures comprise two phases of pre-assessment and post-assessment. In the pre-assessment phase, the WST and subjective evaluation (drivability, convenience) were conducted using the existing standard manual wheelchair and with/without use of a foot to control the wheelchair. In the post-assessment phase, the WST and subjective evaluation (drivability, convenience, difference, acceptability) were also carried out using the developed one-hand drivable manual wheelchair. The results showed that the highest pass rate recorded for the WST items was 3.3% when the participants drove standard manual wheelchairs without the use of either foot and 96.7% when using the manual wheelchairs equipped with developed device. As compared to the existing wheelchair, statistical results showed significant effects on the WST, drivability, convenience, difference and acceptability when the participants drove wheelchairs equipped with the developed device. These findings imply that the one-hand drivable wheelchair equipped with the developed device can be an active and effective solution for hemiplegic clients using existing manual wheelchairs to increase their mobility and occupational performance.

  17. Sympathetic skin responses in hemiplegic patients with and without complex regional pain syndrome

    Directory of Open Access Journals (Sweden)

    Selçuk Barin

    2006-01-01

    Full Text Available Background and Aims: To investigate whether there were changes in the sympathetic skin responses (SSR in the limbs with complex regional pain syndrome (CRPS type I in hemiplegic patients. Setting: A physical medicine and rehabilitation center in Turkey . Materials and Methods: Sympathetic skin responses were evaluated in 69 stroke patients (41 with CRPS and 28 without CRPS and 20 healthy volunteers. SSR were recorded on the paretic and healthy hands after stimulation of the ipsilateral median nerve. Patients′ ages ranged from 33 to 77 years, with a mean of 60.0 ± 12.9 years. Results: The SSR were obtained in all patients with CRPS, whereas SSR was absent in 9 of 28 patients with hemiplegia who did not have CRPS after stimulation of the plegic side and the difference was statistically significant ( P =0.023. SSR amplitudes were increased at the hemiplegic limbs in patients affected by CRPS compared to individuals unaffected; this group difference was statistically significant ( P =0.014. The mean amplitude of the SSR in the advanced stage of CRPS was greater than lower stage and the difference was statistically significant ( P =0.035. Conclusion: Our results suggest that SSR can be obtained in stroke patients with CRPS even in the early stages of CRPS. SSR acquirability and amplitude increase as the stage of the disease advances. As an electrophysiologic technique, SSR may be used in the evaluation of the sympathetic function in hemiplegic patients and also in the diagnosis of CRPS and in monitoring of its treatment.

  18. Rehabilitative treatment for knee osteoarthritis in 28 hemiplegic patients after stroke

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    BACKGROUND: The pain of knee joint in the paralyzed leg of hemiplegic patients after stroke will affect the training of standing and walking, and delay the proceeding of rehabilitation.OBJECTIVE: To investigate the effective method for relieving pain of knee osteoarthritis and improving the function of lower limbs in hemiplegic patients after stroke.DESIGN: A randomized controlled study.SETTING: Department of Rehabilitation and Physical Medicine, Anhui Provincial Corps Hospital, Chinese People's Armed Police Forces.PARTICIPANTS: Twenty-eight hemiplegic patients after stroke with knee osteoarthritis were selected from the Department of Rehabilitation and Physical Medicine, Anhui Provincial Corps Hospital, Chinese People's Armed Police Forces from January 2003 to December 2006, including 11 males and 17 females, aged 47 -77 years, they all conformed to the diagnostic criteria of stroke set by the Fourth National Academic Meeting for Cerebrovascular Disease in 1995, as well as the diagnostic standards of knee osteoarthritis. Informed consents were obtained from all the patients and their relatives.METHODS: The 28 patients were randomly divided into treatment group (n =14) and control group (n =14).All patients had received facilitative technique training, such as normal motor pattern exercising and knee joint control exercising after hospitalization, besides, the patients in the treatment group received an extra complex therapy of electro-acupuncture therapy, physical therapy and exercise therapy, once a day, and 10 days as a course.MAIN OUTCOME MEASURES: The evaluation and effectiveness of the visual analogue scale (VAS) and Fugl-Meyer Assessment (FMA) score of lower limbs function before and after therapy in the two groups.RESULTS: ① VAS results: The score of pain evaluation in the treatment group after therapy was significantly lower than that in the control group (P < 0.01), and the effectiveness of the treatment group was significantly higher than that of the

  19. Role of SDF1/CXCR4 Interaction in Experimental Hemiplegic Models with Neural Cell Transplantation

    Directory of Open Access Journals (Sweden)

    Noboru Suzuki

    2012-02-01

    Full Text Available Much attention has been focused on neural cell transplantation because of its promising clinical applications. We have reported that embryonic stem (ES cell derived neural stem/progenitor cell transplantation significantly improved motor functions in a hemiplegic mouse model. It is important to understand the molecular mechanisms governing neural regeneration of the damaged motor cortex after the transplantation. Recent investigations disclosed that chemokines participated in the regulation of migration and maturation of neural cell grafts. In this review, we summarize the involvement of inflammatory chemokines including stromal cell derived factor 1 (SDF1 in neural regeneration after ES cell derived neural stem/progenitor cell transplantation in mouse stroke models.

  20. THE RATE OF FAMILY PLANNING METHODS USAGE OF 15-49 YEARS OLD WOMEN LIVING IN DUZCE PERMANENT RESIDENCES AND THE CAUSES OF PREFERING METHODS

    Directory of Open Access Journals (Sweden)

    Atilla Senih MAYDA

    2005-10-01

    Full Text Available The aim of this cross-sectional and descriptive study is to learn the level of knowledge and source of knowledge about family planing, the rate of women using family planning methods and the causes of prefering the used methods of 15-49 years old women living in Duzce Permanent Residences. The population of the study ise 4394 women 15-49 years old. Cluster sampling is used and 280 women included to the study. A questionnaire containg 41 questions about family planning methods usage and the causes of prefer them was applied to women with face to face interview. The rate of 232 married women using effective planning method is 53.4%, traditional methods 24.6%and not using any method 22%. The rate of effective method usage of all 280 women included to the study is 45.7%, traditional 21.1% and not using any method 33.2%. The causes to prefer the methods are 72 women (25.7% ?reliable?, 33 women (11.8% ?side effects are less?, and 19 women (6.4% ?cheap?. All the women who began to use family planing methot by consulting with Health Center has used effective methods. Considering ?cheap? as a cause of prefer the method make us to think that the family planning methods could not be supported to the population unpaid. Using effective methods of all the women who began to use family planing methods by consulting with Health Center puts forward that Health Centers have an effective role in family planning activities. [TAF Prev Med Bull 2005; 4(5.000: 265-279

  1. Related Factors Study and Prevention of Stroke Hemiplegic Shoulder%关于中风偏瘫肩相关因素研究与防治

    Institute of Scientific and Technical Information of China (English)

    杨波

    2014-01-01

    Stroke hemiplegic shoulder is a common complication of stroke patients, this paper analyzes the modern medical research in stroke hemi-plegic shoulder, exploring the understanding about hemiplegia pathogenesis of ancient doctors, to study the control methods of hemiplegic shoulder.%偏瘫肩是中风患者常见的并发症,本文分析中风偏瘫肩的现代医学研究,探讨古代医家对偏瘫发病机制的认识,旨在研究偏瘫肩的防治方法。

  2. Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene

    NARCIS (Netherlands)

    K. Nikopoulos (Konstantinos); I. Schrauwen (Isabelle); M.E.H. Simon (Marleen); R.W.J. Collin (Rob); M.A.H. Veckeneer (Marc); K. Keymolen (Kathelijn); G. van Camp (Guy); F.P.M. Cremers (Frans); L. Ingeborgh van den Born

    2011-01-01

    textabstractPurpose. To investigate COL9A1 in two families suggestive of autosomal recessive Stickler syndrome and to delineate the associated phenotype. Methods. The probands of two consanguineous autosomal recessive Stickler families were evaluated for homozygosity using SNP microarray in one and

  3. Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene

    NARCIS (Netherlands)

    Nikopoulos, K.; Schrauwen, I.; Simon, M.; Collin, R.W.J.; Veckeneer, M.; Keymolen, K.; Camp, G. van; Cremers, F.P.M.; Born, L.I. van den

    2011-01-01

    PURPOSE: To investigate COL9A1 in two families suggestive of autosomal recessive Stickler syndrome and to delineate the associated phenotype. METHODS: The probands of two consanguineous autosomal recessive Stickler families were evaluated for homozygosity using SNP microarray in one and haplotype an

  4. Family Violence: Definition, Causes and Legal Measures%家庭暴力之界定、成因及法律规制

    Institute of Scientific and Technical Information of China (English)

    廖继红; 谢秋

    2012-01-01

    Family violence is destructive to social harmony. Through an analysis of the characteristics and causes of family violence as well as the legal system regarding family violence in other countries, this paper proposes some ways for improving the Chinese law concerned in the hope of preventing and stopping family violence.%家庭暴力的存在对社会和谐而言无疑是一个严重的破坏性因素。通过对家庭暴力的特点及成因的探讨以及对其他国家有关家庭暴力的法律制度进行分析,进而对我国如何对家庭暴力进行法律规制提出建议,以期达到预防和制止家庭暴力。

  5. Investigation of psychometric properties of the Falls Efficacy Scale using Rasch analysis in patients with hemiplegic stroke.

    Science.gov (United States)

    Park, Eun Young; Choi, Yoo Im

    2015-09-01

    [Purpose] The purpose of this study was to investigate the psychometric properties of the Falls Efficacy Scale using Rasch analysis in patients with hemiplegic stroke. [Subjects] Fifty-five community-dwelling hemiplegic stroke patients were selected as participants. [Methods] Data were analyzed using the Winsteps program (version 3.62) with the Rasch model to confirm the unidimensionality through item fit, reliability, and appropriateness of the rating scale. [Results] There were no misfit persons or items. Furthermore, infit and outfit statistics appeared adjacent. The person separation value was 3.07, and the reliability coefficient was 0.90. The reliability of all items was at an acceptable level for patients with hemiplegic stroke. [Conclusion] This was the first study to investigate the psychometric properties of the Falls Efficacy Scale using Rasch analysis. The results of this study suggest that the 6-point Falls Efficacy Scale is an appropriate tool for measuring the self-perceived fear of falling in patients with hemiplegic stroke.

  6. Sit-to-Stand Movement in Children with Hemiplegic Cerebral Palsy: Relationship with Knee Extensor Torque and Social Participation

    Science.gov (United States)

    dos Santos, Adriana Neves; Pavao, Silvia Leticia; Santiago, Paulo Roberto Pereira; Salvini, Tania de Fatima; Rocha, Nelci Adriana Cicuto Ferreira

    2013-01-01

    This study aimed to investigate the relationship between sit-to-stand (STS) movement, knee extensor torque and social participation in children with cerebral palsy (CP). Seven spastic hemiplegic CP patients (8.0 plus or minus 2.2 years), classified by the Gross Motor Function Classification System as I and II, and 18 typical children (8.4 plus or…

  7. Anticipatory postural adjustments associated with a loading perturbation in children with hemiplegic and diplegic cerebral palsy.

    Science.gov (United States)

    Shiratori, T; Girolami, G L; Aruin, A S

    2016-10-01

    Anticipatory postural adjustments (APAs) in preparation for predictable externally induced loading perturbation were studied in children with typically development (TD), hemiplegic (HEMI), and diplegic (DIPL) cerebral palsy. Twenty-seven children (n = 9 in each group) were asked to stand and catch a load dropped from a pre-specified height. Electrical activity of the leg and trunk muscles and center of pressure (COP) displacements were recorded to quantify the APAs. All groups were able to generate APAs prior to the perturbation, but the magnitude was smaller and the onset was delayed in the dorsal (agonist) postural muscles in both HEMI and DIPL as compared to TD. HEMI and DIPL also generated APAs in the antagonist postural muscles. Anticipatory backward COP displacement was significantly different from the baseline value only in the TD and HEMI. HEMI and DIPL displayed a different postural control strategy; HEMI showed no difference in background postural activity from TD, but with diminished APAs in the agonist postural muscles compared to TD, while DIPL showed a higher background postural activity and diminished APAs in the agonist postural muscles compared to TD. These differences are important to consider when designing rehabilitation programs to improve posture and movement control in children with hemiplegic and diplegic cerebral palsy.

  8. Effects of robotic gait rehabilitation on biomechanical parameters in the chronic hemiplegic patients.

    Science.gov (United States)

    Wallard, L; Dietrich, G; Kerlirzin, Y; Bredin, J

    2015-09-01

    Hemiplegia is a more or less complete loss of hemibody voluntary motricity following a brain injury, usually resulting in alterations of the locomotor system with persistent disorders of movement and posture. We were interested in studying the gait pattern called "stiff knee gait" with the main objective to highlight the role of a robotic rehabilitation in improving or modifying/changing the walking pattern in adults with chronic hemiplegic disorders. Data were collected by a motion analysis system (Vicon(®)--Oxford Metrics, Oxford, UK) in order to achieve a Clinical Gait Analysis before and after a robotic gait rehabilitation (Lokomat(®)). Four intensive sessions per weeks during five weeks were performed by ten chronic hemiplegic adults. The results show a significant improvement in locomotor parameters (walking speed, step length, single and double support time) and in the knee kinematics. This first study provides experimental evidence of the importance and usefulness of the robotic rehabilitation as an aid in the rehabilitation of gait pattern in adults with chronic hemiplegia.

  9. Unilateral bullous pemphigoid without erythema and eosinophil infiltration in a hemiplegic patient.

    Science.gov (United States)

    Tsuruta, Daisuke; Nishikawa, Takeji; Yamagami, Jun; Hashimoto, Takashi

    2012-09-01

    In this report, we describe an 88-year-old male stroke patient with unilateral bullous pemphigoid limited to the hemiplegic side. Physical examinations revealed multiple tense bullae with clear and/or bloody contents without apparent erythema on the right thigh and lower leg, accompanied by erosions on the right chest. Histopathologically, no eosinophils were infiltrated into and around the subepidermal bullae. Immunofluorescence revealed deposited and circulating immunoglobulin (Ig)G anti-basement membrane zone antibodies. Immunoblot assays using various antigen sources and enzyme-linked immunosorbent assay revealed that IgG antibodies in this case reacted with unique epitopes between NC16a and C-terminal domains on the 120-kDa LAD-1, the extracellular truncated form of BP180. Three observations were unique in our case. First, the distribution of bullae in our patient was limited to the hemiplegic side. Second, there was no apparent erythema clinically and no eosinophilic infiltration histopathologically. Third, the patient achieved remission without the use of oral corticosteroids. The unusual epitopes in this case may contribute to these phenomena.

  10. Effect Of Bobath Approach In Improving Adl Of Hemiplegic Patients

    OpenAIRE

    Karthikeyan Thangavelu; A. S. Moorthy

    2013-01-01

    -Stroke is the third leading cause of death and the primary cause of long term disability. It is a sudden, focal neurological deficit resulting from ischemic (or) hemorrhagic lesions in the brain. It affects more than six lakhs people all over the world each year. In the analysis and interpretation of Functional independence scale and Barthel Index of Bobath approach, There was a significant in the FIM scales pre test (M= 67.3, SD=0.96) and post test (M= 74.9, SD=0.96) t(9)=25.01, P ≤0.01 whi...

  11. Familial Polycythemia Caused by a Novel Mutation in the Beta Globin Gene: Essential Role of P50 in Evaluation of Familial Polycythemia

    Directory of Open Access Journals (Sweden)

    Neeraj Agarwal, Mariluz P. Mojica-Henshaw, Elizabeth. D. Simmons, Dottie Hussey, Ching N. Ou, Josef T. Prchal

    2007-01-01

    Full Text Available Two polycythemic subjects from a family with multiple polycythemic subjects were evaluated. Estimation of oxygen affinity of Hb from venous blood gas parameters (P50 revealed low P50 suggesting a high affinity Hb variant. Further work up, which included beta globin gene sequencing, revealed a novel mutation changing a codon to the previously reported high affinity Hb - Hb Johnstown (beta109 Val->Leu. Polycythemic subjects with high affinity Hb variant are asymptomatic with normal life expectancy. Their differentiation from polycythemia vera (PV is crucial to avoid therapy which is otherwise reserved for PV patients. We provide an electronic version (in Microsoft excel program of a previously reported mathematical formula for rapid calculation of P50 from venous blood gases. Estimation of P50 is an essential initial step in the evaluation of a subject with personal and family history of polycythemia.

  12. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis and familial Rosai-Dorfman disease.

    Directory of Open Access Journals (Sweden)

    Neil V Morgan

    2010-02-01

    Full Text Available The histiocytoses are a heterogeneous group of disorders characterised by an excessive number of histiocytes. In most cases the pathophysiology is unclear and treatment is nonspecific. Faisalabad histiocytosis (FHC (MIM 602782 has been classed as an autosomal recessively inherited form of histiocytosis with similarities to Rosai-Dorfman disease (RDD (also known as sinus histiocytosis with massive lymphadenopathy (SHML. To elucidate the molecular basis of FHC, we performed autozygosity mapping studies in a large consanguineous family and identified a novel locus at chromosome 10q22.1. Mutation analysis of candidate genes within the target interval identified biallelic germline mutations in SLC29A3 in the FHC kindred and in two families reported to have familial RDD. Analysis of SLC29A3 expression during mouse embryogenesis revealed widespread expression by e14.5 with prominent expression in the central nervous system, eye, inner ear, and epithelial tissues including the gastrointestinal tract. SLC29A3 encodes an intracellular equilibrative nucleoside transporter (hENT3 with affinity for adenosine. Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a H syndrome (MIM 612391 that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. Our findings suggest that a variety of clinical diagnoses (H and PHID syndromes, FHC, and familial RDD can be included in a new diagnostic category of SLC29A3 spectrum disorder.

  13. Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation

    DEFF Research Database (Denmark)

    Lindquist, S.G.; Holm, I.E.; Schwartz, M.;

    2008-01-01

    We report clinical, molecular, neuroimaging and neuropathological features of a Danish family with autosomal dominant inherited dementia, a clinical phenotype resembling Alzheimer's disease and a pathogenic mutation (R406W) in the microtubule associated protein tau (MAPT) gene. Pre-symptomatic an......We report clinical, molecular, neuroimaging and neuropathological features of a Danish family with autosomal dominant inherited dementia, a clinical phenotype resembling Alzheimer's disease and a pathogenic mutation (R406W) in the microtubule associated protein tau (MAPT) gene. Pre...

  14. A Study on the Underlying Causes Behind the Declining Trend of Chinese Male’s Authority in Families: A Socio-functional Perspective —Taking a Chinese Dialect Episode: Go! The Whole Family as an Example

    Directory of Open Access Journals (Sweden)

    Meixia Li

    2015-11-01

    Full Text Available Males have had greatest authorities in Chinese families since ancient times. However, it can be sensed that their authorities in families are declining in recent decades. Then such questions arise: first, are there any concrete evidences that can show us that Chinese male’s authority in families is declining? Second, what are the underlying causes behind this declining trend? In this article, based on Halliday’s systemic-functional grammar, esp. the idea about the construction of interpersonal meaning through mood structure, and Bakhtin’s dialogue theory, we did quantitative and qualitative analyses of the data selected from a Chinese dialect episode: Go! The Whole Family. The study reveals that the declining of the Chinese male’s authority in the family has become a publicly recognized convention, and this declining trend is not simply a social phenomenon, rather, it also reflects the universal human nature, that is, the pursuit of equality and humanism.Keywords: Chinese Male’s  authority; Declining; Underlying Causes; Universal Human Nature; Mood Structure; Dialogue Theory

  15. Comparison of staff and family perceptions of causes of noise pollution in the Pediatric Intensive Care Unit and suggested intervention strategies

    Directory of Open Access Journals (Sweden)

    Harsheen Kaur

    2016-01-01

    Full Text Available Noise and excessive, unwanted sound in the Pediatric Intensive Care Unit (PICU is common and has a major impact on patients′ sleep and recovery. Previous research has focused mostly on absolute noise levels or included only staff as respondents to acknowledge the causes of noise and to plan for its reduction. Thus far, the suggested interventions have not ameliorated noise, and it continues to serve as a barrier to recovery. In addition to surveying PICU providers through internet-based software, patients′ families were evaluated through in-person interviews utilizing a pretested instrument over 3 months. Families of patients admitted for more than 24 h were considered eligible for evaluation. Participants were asked to rank causes of noise from 1 to 8, with eight being highest, and identified potential interventions as effective or ineffective. In total, 50 families from 251 admissions and 65 staff completed the survey. Medical alarms were rated highest (mean ± standard deviation [SD], 4.9 ± 2.1 [2.8-7.0], followed by noise from medical equipment (mean ± SD, 4.7 ± 2.1 [2.5-6.8]. This response was consistent among PICU providers and families. Suggested interventions to reduce noise included keeping a patient′s room door closed, considered effective by 93% of respondents (98% of staff; 88% of families, and designated quiet times, considered effective by 82% (80% of staff; 84% of families. Keeping the patient′s door closed was the most effective strategy among survey respondents. Most families and staff considered medical alarms an important contributor to noise level. Because decreasing the volume of alarms such that it cannot be heard is inappropriate, alternative strategies to alert staff of changes in vital signs should be explored.

  16. Comparison of staff and family perceptions of causes of noise pollution in the Pediatric Intensive Care Unit and suggested intervention strategies.

    Science.gov (United States)

    Kaur, Harsheen; Rohlik, Gina M; Nemergut, Michael E; Tripathi, Sandeep

    2016-01-01

    Noise and excessive, unwanted sound in the Pediatric Intensive Care Unit (PICU) is common and has a major impact on patients' sleep and recovery. Previous research has focused mostly on absolute noise levels or included only staff as respondents to acknowledge the causes of noise and to plan for its reduction. Thus far, the suggested interventions have not ameliorated noise, and it continues to serve as a barrier to recovery. In addition to surveying PICU providers through internet-based software, patients' families were evaluated through in-person interviews utilizing a pretested instrument over 3 months. Families of patients admitted for more than 24 h were considered eligible for evaluation. Participants were asked to rank causes of noise from 1 to 8, with eight being highest, and identified potential interventions as effective or ineffective. In total, 50 families from 251 admissions and 65 staff completed the survey. Medical alarms were rated highest (mean ± standard deviation [SD], 4.9 ± 2.1 [2.8-7.0]), followed by noise from medical equipment (mean ± SD, 4.7 ± 2.1 [2.5-6.8]). This response was consistent among PICU providers and families. Suggested interventions to reduce noise included keeping a patient's room door closed, considered effective by 93% of respondents (98% of staff; 88% of families), and designated quiet times, considered effective by 82% (80% of staff; 84% of families). Keeping the patient's door closed was the most effective strategy among survey respondents. Most families and staff considered medical alarms an important contributor to noise level. Because decreasing the volume of alarms such that it cannot be heard is inappropriate, alternative strategies to alert staff of changes in vital signs should be explored. PMID:26960784

  17. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

    Science.gov (United States)

    Heinzen, Erin L.; Swoboda, Kathryn J.; Hitomi, Yuki; Gurrieri, Fiorella; Nicole, Sophie; de Vries, Boukje; Tiziano, F. Danilo; Fontaine, Bertrand; Walley, Nicole M.; Heavin, Sinéad; Panagiotakaki, Eleni; Fiori, Stefania; Abiusi, Emanuela; Di Pietro, Lorena; Sweney, Matthew T.; Newcomb, Tara M.; Viollet, Louis; Huff, Chad; Jorde, Lynn B.; Reyna, Sandra P.; Murphy, Kelley J.; Shianna, Kevin V.; Gumbs, Curtis E.; Little, Latasha; Silver, Kenneth; Ptác̆ek, Louis J.; Haan, Joost; Ferrari, Michel D.; Bye, Ann M.; Herkes, Geoffrey K.; Whitelaw, Charlotte M.; Webb, David; Lynch, Bryan J.; Uldall, Peter; King, Mary D.; Scheffer, Ingrid E.; Neri, Giovanni; Arzimanoglou, Alexis; van den Maagdenberg, Arn M.J.M.; Sisodiya, Sanjay M.; Mikati, Mohamad A.; Goldstein, David B.; Nicole, Sophie; Gurrieri, Fiorella; Neri, Giovanni; de Vries, Boukje; Koelewijn, Stephany; Kamphorst, Jessica; Geilenkirchen, Marije; Pelzer, Nadine; Laan, Laura; Haan, Joost; Ferrari, Michel; van den Maagdenberg, Arn; Zucca, Claudio; Bassi, Maria Teresa; Franchini, Filippo; Vavassori, Rosaria; Giannotta, Melania; Gobbi, Giuseppe; Granata, Tiziana; Nardocci, Nardo; De Grandis, Elisa; Veneselli, Edvige; Stagnaro, Michela; Gurrieri, Fiorella; Neri, Giovanni; Vigevano, Federico; Panagiotakaki, Eleni; Oechsler, Claudia; Arzimanoglou, Alexis; Nicole, Sophie; Giannotta, Melania; Gobbi, Giuseppe; Ninan, Miriam; Neville, Brian; Ebinger, Friedrich; Fons, Carmen; Campistol, Jaume; Kemlink, David; Nevsimalova, Sona; Laan, Laura; Peeters-Scholte, Cacha; van den Maagdenberg, Arn; Casaer, Paul; Casari, Giorgio; Sange, Guenter; Spiel, Georg; Boneschi, Filippo Martinelli; Zucca, Claudio; Bassi, Maria Teresa; Schyns, Tsveta; Crawley, Francis; Poncelin, Dominique; Vavassori, Rosaria

    2012-01-01

    Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurologic manifestations. AHC is usually a sporadic disorder with unknown etiology. Using exome sequencing of seven patients with AHC, and their unaffected parents, we identified de novo nonsynonymous mutations in ATP1A3 in all seven AHC patients. Subsequent sequence analysis of ATP1A3 in 98 additional patients revealed that 78% of AHC cases have a likely causal ATP1A3 mutation, including one inherited mutation in a familial case of AHC. Remarkably, six ATP1A3 mutations explain the majority of patients, including one observed in 36 patients. Unlike ATP1A3 mutations that cause rapid-onset-dystonia-parkinsonism, AHC-causing mutations revealed consistent reductions in ATPase activity without effects on protein expression. This work identifies de novo ATP1A3 mutations as the primary cause of AHC, and offers insight into disease pathophysiology by expanding the spectrum of phenotypes associated with mutations in this gene. PMID:22842232

  18. SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.

    Science.gov (United States)

    Szczałuba, Krzysztof; Brzezinska, Monika; Kot, Justyna; Rydzanicz, Małgorzata; Walczak, Anna; Stawiński, Piotr; Werner, Bożena; Płoski, Rafał

    2016-09-01

    Loss-of-function de novo mutations in the SETD5 gene, encoding a putative methyltransferase, are an important cause of moderate/severe intellectual disability as evidenced by the results of sequencing large patient cohorts. We present the first familial case of a SETD5 mutation contributing to a phenotype of congenital heart defects and dysmorphic features, with variable expression, in two siblings and their father. Interestingly, the father demonstrated only mild intellectual impairment. Family based exome sequencing combined to careful parental phenotyping may reveal a more complex clinical picture in newly recognized syndromes. © 2016 Wiley Periodicals, Inc. PMID:27375234

  19. Differences in respiratory pressure and pulmonary function among children with spastic diplegic and hemiplegic cerebral palsy in comparison with normal controls

    OpenAIRE

    Kwon, Yong Hyun; Lee, Hye Young

    2015-01-01

    [Purpose] The purpose of this study was to determine differences in respiratory pressure and pulmonary function among children with spastic diplegic and hemiplegic cerebral palsy (CP) in comparison with children with normal development. [Subjects and Methods] Fourteen children with spastic diplegic CP, 11 children with hemiplegic CP, and 14 children with normal development were recruited. Respiratory pressure was measured and the pulmonary function test (PFT) was performed to evaluate the str...

  20. A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family

    DEFF Research Database (Denmark)

    Anjum, Iram; Eiberg, Hans; Baig, Shahid Mahmood;

    2010-01-01

    with a clear aphakia phenotype. METHODS: The initial homozygosity screening of the family was extended to all the known autosomal recessive cataract loci in order to exclude the possibility of surgical cataract removal leading to aphakia. The screening was performed using polymorphic nucleotide repeat markers...... known autosomal recessive loci resulted in negative LOD (logarithm of odds) scores. The aphakia phenotype suggested a mutation in FOXE3 close to the AR-locus 1p34.3-p32.2, and sequence analyses revealed the nonsense mutation c.720C>A, changing cysteine 240 to a stop codon. Segregation in the family...

  1. Loss of Gq/11 Family G Proteins in the Nervous System Causes Pituitary Somatotroph Hypoplasia and Dwarfism in Mice

    OpenAIRE

    Wettschureck, N.; Moers, A.; Wallenwein, B.; Parlow, A.F; Maser-Gluth, C; Offermanns, S.

    2005-01-01

    Heterotrimeric G proteins of the Gq/11 family transduce signals from a variety of neurotransmitter and hormone receptors and have therefore been implicated in various functions of the nervous system. Using the Cre/loxP system, we generated mice which lack the genes coding for the α subunits of the two main members of the Gq/11 family, gnaq and gna11, selectively in neuronal and glial precursor cells. Mice with defective gnaq and gna11 genes were morphologically normal, but they died shortly a...

  2. Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Rohlin, A; Engwall, Y; Fritzell, K;

    2011-01-01

    of this promoter in the largest family (Family 1) of the Swedish Polyposis Registry. The mutation leads to an imbalance in allele-specific expression of APC, and transcription from promoter 1B was highly impaired in both normal colorectal mucosa and blood from mutation carriers. To establish the significance......Familial adenomatous polyposis (FAP) is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Two promoters, 1A and 1B, have been recognized in APC, and 1B is thought to have a minor role in the regulation of the gene. We have identified a novel deletion encompassing half...... of promoter 1B in normal colorectal mucosa (from controls), expression levels of specific transcripts from each of the promoters, 1A and 1B, were examined, and the expression from 1B was significantly higher compared with 1A. Significant amounts of transcripts generated from promoter 1B were also determined...

  3. Beyond Work-Family Programs: Confronting and Resolving the Underlying Causes of Work-Personal Life Conflict.

    Science.gov (United States)

    Kofodimos, Joan R.

    Work-Family Programs (WFPs) are among the most popular and publicized workplace innovations of the 1990s. These programs are intended to alleviate employees' work-personal conflicts by addressing issues such as child care assistance, parental leave, elder care, flexible working arrangements, wellness and fitness, and stress management. The problem…

  4. A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD)

    NARCIS (Netherlands)

    Jazayeri, Omid; Liu, Xuanzhu; van Diemen, Cleo C.; Bakker-van Waarde, Willie M.; Sikkema-Raddatz, Birgit; Sinke, Richard J.; Zhang, Jianguo; van Ravenswaaij-Arts, Conny M. A.

    2015-01-01

    Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by low levels of cortisol despite high adrenocorticotropin (ACTH) levels, due to the reduced ability of the adrenal cortex to produce cortisol in response to stimulation by ACTH. FGD is a heterogeneous disorder

  5. A Homozygous TPO Gene Duplication (c.1184_1187dup4) Causes Congenital Hypothyroidism in Three Siblings Born to a Consanguineous Family.

    Science.gov (United States)

    Cangul, Hakan; Aydin, Banu K; Bas, Firdevs

    2015-12-01

    Congenital hypothyroidism (CH) is the most common neonatal endocrine disease, and germ-line mutations in the TPO gene cause the inherited form of the disease. Our aim in this study was to determine the genetic basis of congenital hypothyroidism in three affected children coming from a consanguineous Turkish family. Because CH is usually inherited in autosomal recessive manner in consanguineous/multicase families, we adopted a two-stage strategy of genetic linkage studies and targeted sequencing of the candidate genes. First, we investigated the potential genetic linkage of the family to any known CH locus, using microsatellite markers, and then screened for mutations in linked-gene by conventional sequencing. The family showed potential linkage to the TPO gene and we detected a homozygous duplication (c.1184_1187dup4) in all cases. The mutation segregated with disease status in the family. This study confirms the pathogenicity of the c.1184_1187dup4 mutation in the TPO gene and helps establish a genotype/phenotype correlation associated with this mutation. It also highlights the importance of molecular genetic studies in the definitive diagnosis and accurate classification of CH. PMID:27617131

  6. Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.

    Directory of Open Access Journals (Sweden)

    Evgeny A Glazov

    2011-03-01

    Full Text Available Recent advances in DNA sequencing have enabled mapping of genes for monogenic traits in families with small pedigrees and even in unrelated cases. We report the identification of disease-causing mutations in a rare, severe, skeletal dysplasia, studying a family of two healthy unrelated parents and two affected children using whole-exome sequencing. The two affected daughters have clinical and radiographic features suggestive of anauxetic dysplasia (OMIM 607095, a rare form of dwarfism caused by mutations of RMRP. However, mutations of RMRP were excluded in this family by direct sequencing. Our studies identified two novel compound heterozygous loss-of-function mutations in POP1, which encodes a core component of the RNase mitochondrial RNA processing (RNase MRP complex that directly interacts with the RMRP RNA domains that are affected in anauxetic dysplasia. We demonstrate that these mutations impair the integrity and activity of this complex and that they impair cell proliferation, providing likely molecular and cellular mechanisms by which POP1 mutations cause this severe skeletal dysplasia.

  7. Effects of underwater treadmill walking training on the peak torque of the knee in hemiplegic patients.

    Science.gov (United States)

    Lee, Dong-Geol; Jeong, Seong-Kwan; Kim, Young-Dong

    2015-09-01

    [Purpose] This study investigated the effects of underwater treadmill walking training on the peak torque of the knee in hemiplegic patients. [Subjects and Methods] Thirty-two subjects, who were randomly allocated to an experimental group (n=16) and a control group (n=16), performed underwater treadmill walking training and overground treadmill walking training, respectively, for 30 minutes/session, 3 sessions/week, for 6 weeks. An isokinetic dynamometer was used to assess the peak torque. [Results] The subjects in the experimental group showed an increase in the peak knee extension torque compared to the control group. [Conclusion] The results suggested that underwater treadmill walking training has a greater effect on peak knee extension torque at velocities of 60°/sec and 120°/sec than overground treadmill walking training.

  8. Neuropsychological and MRI assessment of young adults with hemiplegic cerebral palsy

    International Nuclear Information System (INIS)

    We assessed 12 young adults with hemiplegic cerebral palsy, aged from 14 to 33 years, by intellectual quotient (IQ) and magnetic resonance imaging (MRI), and obtained the following findings. First, the IQ scores were relatively lower than those predicted by their social activities. Second, there were two cases who seemed to have right or bilateral hemisphere representatives of language; their IQ scores were within normal range, while MRI demonstrated extensive brain damages including usual ones in language areas. Third, IQ scores and MRI findings were correlated to some extent; however, a case of limited brain damage on MRI had low IQ score, while five cases of brain damage located excluding their language areas had normal or high IQ scores. The results of the present study indicate the necessity of follow-up MRI for prospective observation of the brain damage acquired at or around birth. (author)

  9. E Actitrode: The new selective stimulation interface for functional movements in hemiplegics patients

    Directory of Open Access Journals (Sweden)

    Bijelić Goran

    2004-01-01

    Full Text Available We describe the new multi-contact electrode-array for surface electrical stimulation, and the corresponding interface device that allows on-line selection of the conductive fields during the application of the system. This new device has a specific value for therapeutic applications of electrical stimulation since it allows effective generation of desired functional movements. The user-friendly interface also allows patients at home to select the optimal electrode array; thereby, to receive therapies out of the clinical environment. The electrode was tested in three post-stroke hemiplegics patients. The pilot experiments showed that system works sufficiently good for control of fingers during grasp and release functions without the interference of the wrist movement. The use of electrode is also envisioned for many other applications (foot-drop fitness, shoulder subluxation, etc.

  10. Local cerebral blood flow and local oxygen consumption in prolonged hemiplegic migraine

    International Nuclear Information System (INIS)

    This work gives the results of a study by positron emission tomography of the cerebral blood flow (CBF), oxygen-extraction rate (O2E) and oxygen consumption (CMRO2) during severe and prolonged attack of hemiplegic migraine. The salient facts observed are a high (CBF) in the brain hemisphere affected (ruling out the hypothesis of a persistent cerebral ischemia), together with a collapsed O2E (''luxury perfusion'') and especially preservation of the CMRO2 suggesting a decoupling not only between CBF and CMRO2 but also between CMRO2 and functional state of the tissue. Some time after the attack a new study showed the recoupling between CBF and CMRO2, but with the latter reduced in the affected hemisphere although the clinical and tomodensitometric state had returned to normal. These new observations should not however be improperly generalised to all migraines, given the unusual characteristics of the disorder in our patient

  11. The perception of peripersonal space in right and left brain damage hemiplegic patients.

    Science.gov (United States)

    Bartolo, Angela; Carlier, Mauraine; Hassaini, Sabrina; Martin, Yves; Coello, Yann

    2014-01-01

    Peripersonal space, as opposed to extrapersonal space, is the space that contains reachable objects and in which multisensory and sensorimotor integration is enhanced. Thus, the perception of peripersonal space requires combining information on the spatial properties of the environment with information on the current capacity to act. In support of this, recent studies have provided converging evidences that perceiving objects in peripersonal space activates a neural network overlapping with that subtending voluntary motor action and motor imagery. Other studies have also underlined the dominant role of the right hemisphere (RH) in motor planning and of the left hemisphere (LH) in on-line motor guiding, respectively. In the present study, we investigated the effect of a right or left hemiplegia in the perception of peripersonal space. 16 hemiplegic patients with brain damage to the left (LH) or right (RH) hemisphere and eight matched healthy controls performed a color discrimination, a motor imagery and a reachability judgment task. Analyses of response times and accuracy revealed no variation among the three groups in the color discrimination task, suggesting the absence of any specific perceptual or decisional deficits in the patient groups. In contrast, the patient groups revealed longer response times in the motor imagery task when performed in reference to the hemiplegic arm (RH and LH) or to the healthy arm (RH). Moreover, RH group showed longer response times in the reachability judgment task, but only for stimuli located at the boundary of peripersonal space, which was furthermore significantly reduced in size. Considered together, these results confirm the crucial role of the motor system in motor imagery task and the perception of peripersonal space. They also revealed that RH damage has a more detrimental effect on reachability estimates, suggesting that motor planning processes contribute specifically to the perception of peripersonal space.

  12. The perception of peripersonal space in right and left brain damage hemiplegic patients

    Directory of Open Access Journals (Sweden)

    Angela eBartolo

    2014-01-01

    Full Text Available Peripersonal space, as opposed to extrapersonal space, is the space that contains reachable objects and in which multisensory and sensorimotor integration is enhanced. Thus, the perception of peripersonal space requires combining information on the spatial properties of the environment with information on the current capacity to act. In support of this, recent studies have provided converging evidences that perceiving objects in peripersonal space activates a neural network overlapping with that subtending voluntary motor action and motor imagery. Other studies have also underlined the dominant role of the right hemisphere in motor planning and of the left hemisphere in on-line motor guiding, respectively. In the present study, we investigated the effect of a right or left hemiplegia in the perception of peripersonal space. 16 hemiplegic patients with brain damage to the left (LH or right (RH hemisphere and 8 matched healthy controls (HC performed a colour discrimination, a motor imagery and a reachability judgment task. Analyses of response times and accuracy revealed no variation among the three groups in the colour discrimination task, suggesting the absence of any specific perceptual or decisional deficits in the patient groups. In contrast, the patient groups revealed longer response times in the motor imagery task when performed in reference to the hemiplegic arm (RH and LH or to the healthy arm (RH. Moreover, RH group showed longer response times in the reachability judgement task, but only for stimuli located at the boundary of peripersonal space, which was furthermore significantly reduced in size. Considered together, these results confirm the crucial role of the motor system in motor imagery task and the perception of peripersonal space. They also revealed that right hemisphere damage has a more detrimental effect on reachability estimates, suggesting that motor planning processes contribute specifically to the perception of

  13. Pain management of hemiplegic shoulder pain post stroke in patients from Nanjing, China*

    Institute of Scientific and Technical Information of China (English)

    Yi Zhu; Bin Su; Ning Li; Hongzhu Jin

    2013-01-01

    We selected 106 hemiplegic patients with shoulder pain hospitalized after stroke from three hospit-als in Nanjing, China between February 2007 and January 2012. Al patients had complete clinical data sets and accounted for 45.5% of the inpatients because of stroke. Results showed that the number of patients with hemiplegic shoulder pain post stroke increased yearly, attacking mainly males 50-69 years of age. Of 106 patients, there were 60 cases (56.6%) of adhesive capsulitis, 19 (17.9%) of shoulder subluxation, 14 (13.2%) of complex regional pain syndrome, and 13 (12.6%) of central pain. The main symptoms were shoulder pain (100%), limit of shoulder mobility (98.1%), and adhesion of the scapula (56.6%). MRI of the shoulder showed tendon and ligament lesions (57.1%) and rotator cuff tear (38.1%). 53.8%of central pain was related to the thalamus, in addition to the basal ganglia, brain stem, and cerebel opontine angle. Shoulder pain, upper limb motor function, and function independence were significantly improved after comprehensive rehabilitation. In par-ticular, electroacupuncture based on basic physical therapy exhibited efficacy on shoulder tion and complex regional pain syndrome. Multiple linear regression results showed a negative re-lationship of efficacy of pain management with the attack period of shoulder pain, involvement of the posterior limb of the internal capsule, and duration between onset and rehabilitation treatment, but a positive correlation with pain-related education, pain regression period, and pain diagnosis.

  14. Development of an assist controller with robot suit HAL for hemiplegic patients using motion data on the unaffected side.

    Science.gov (United States)

    Kawamoto, Hiroaki; Kandone, Hideki; Sakurai, Takeru; Ariyasu, Ryohei; Ueno, Yukiko; Eguchi, Kiyoshi; Sankai, Yoshiyuki

    2014-01-01

    Among several characteristics seen in gait of hemiplegic patients after stroke, symmetry is known to be an indicator of the degree of impairment of walking ability. This paper proposes a control method for a wearable type lower limb motion assist robot to realize spontaneous symmetric gait for these individuals. This control method stores the motion of the unaffected limb during swing and then provides motion support on the affected limb during the subsequent swing using the stored pattern to realize symmetric gait based on spontaneous limb swing. This method is implemented on the robot suit HAL (Hybrid Assistive Limbs). Clinical tests were conducted in order to assess the feasibility of the control method. Our case study involved participation of one chronic stroke patient who was not able to flex his right knee. As a result, the walking support for hemiplegic leg provided by the HAL improved the subject's gait symmetry. The feasibility study showed promising basis for the future clinical study.

  15. Neuroplastic Sensorimotor Resting State Network Reorganization in Children With Hemiplegic Cerebral Palsy Treated With Constraint-Induced Movement Therapy.

    Science.gov (United States)

    Manning, Kathryn Y; Menon, Ravi S; Gorter, Jan Willem; Mesterman, Ronit; Campbell, Craig; Switzer, Lauren; Fehlings, Darcy

    2016-02-01

    Using resting state functional magnetic resonance imaging (MRI), we aim to understand the neurologic basis of improved function in children with hemiplegic cerebral palsy treated with constraint-induced movement therapy. Eleven children including 4 untreated comparison subjects diagnosed with hemiplegic cerebral palsy were recruited from 3 clinical centers. MRI and clinical data were gathered at baseline and 1 month for both groups, and 6 months later for the case group only. After constraint therapy, the sensorimotor resting state network became more bilateral, with balanced contributions from each hemisphere, which was sustained 6 months later. Sensorimotor resting state network reorganization after therapy was correlated with a change in the Quality of Upper Extremity Skills Test score at 1 month (r = 0.79, P = .06), and Canadian Occupational Performance Measure scores at 6 months (r = 0.82, P = .05). This clinically correlated resting state network reorganization provides further evidence of the neuroplastic mechanisms underlying constraint-induced movement therapy.

  16. Genome-wide sequencing to identify the cause of hereditary cancer syndromes: with examples from familial pancreatic cancer.

    Science.gov (United States)

    Roberts, Nicholas J; Klein, Alison P

    2013-11-01

    Advances in our understanding of the human genome and next-generation technologies have facilitated the use of genome-wide sequencing to decipher the genetic basis of Mendelian disease and hereditary cancer syndromes. However, the application of genome-wide sequencing in hereditary cancer syndromes has had mixed success, in part, due to complex nature of the underlying genetic architecture. In this review we discuss the use of genome-wide sequencing in both Mendelian diseases and hereditary cancer syndromes, highlighting the potential and challenges of this approach using familial pancreatic cancer as an example. PMID:23196058

  17. Upper Extremity Functional Evaluation by Fugl-Meyer Assessment Scoring Using Depth-Sensing Camera in Hemiplegic Stroke Patients.

    Directory of Open Access Journals (Sweden)

    Won-Seok Kim

    Full Text Available Virtual home-based rehabilitation is an emerging area in stroke rehabilitation. Functional assessment tools are essential to monitor recovery and provide current function-based rehabilitation. We developed the Fugl-Meyer Assessment (FMA tool using Kinect (Microsoft, USA and validated it for hemiplegic stroke patients. Forty-one patients with hemiplegic stroke were enrolled. Thirteen of 33 items were selected for upper extremity motor FMA. One occupational therapist assessed the motor FMA while recording upper extremity motion with Kinect. FMA score was calculated using principal component analysis and artificial neural network learning from the saved motion data. The degree of jerky motion was also transformed to jerky scores. Prediction accuracy for each of the 13 items and correlations between real FMA scores and scores using Kinect were analyzed. Prediction accuracies ranged from 65% to 87% in each item and exceeded 70% for 9 items. Correlations were high for the summed score for the 13 items between real FMA scores and scores obtained using Kinect (Pearson's correlation coefficient = 0.873, P<0.0001 and those between total upper extremity scores (66 in full score and scores using Kinect (26 in full score (Pearson's correlation coefficient = 0.799, P<0.0001. Log transformed jerky scores were significantly higher in the hemiplegic side (1.81 ± 0.76 compared to non-hemiplegic side (1.21 ± 0.43 and showed significant negative correlations with Brunnstrom stage (3 to 6; Spearman correlation coefficient = -0.387, P = 0.046. FMA using Kinect is a valid way to assess upper extremity function and can provide additional results for movement quality in stroke patients. This may be useful in the setting of unsupervised home-based rehabilitation.

  18. Upper limb children action-observation training (UP-CAT): a randomised controlled trial in Hemiplegic Cerebral Palsy

    OpenAIRE

    Biagi Laura; Guzzetta Andrea; Cossu Giuseppe; Ferrari Adriano; Sgandurra Giuseppina; Tosetti Michela; Fogassi Leonardo; Cioni Giovanni

    2011-01-01

    Abstract Background Rehabilitation for children with hemiplegic cerebral palsy (HCP) aimed to improve function of the impaired upper limb (UL) uses a wide range of intervention programs. A new rehabilitative approach, called Action-Observation Therapy, based on the recent discovery of mirror neurons, has been used in adult stroke but not in children. The purpose of the present study is to design a randomised controlled trial (RCT) for evaluating the efficacy of Action-Observation Therapy in i...

  19. Activation of less affected corticospinal tract and poor motor outcome in hemiplegic pediatric patients: a diffusion tensor tractography imaging study.

    Science.gov (United States)

    Kim, Jin Hyun; Son, Su Min

    2015-12-01

    The less affected hemisphere is important in motor recovery in mature brains. However, in terms of motor outcome in immature brains, no study has been reported on the less affected corticospinal tract in hemiplegic pediatric patients. Therefore, we examined the relationship between the condition of the less affected corticospinal tract and motor function in hemiplegic pediatric patients. Forty patients with hemiplegia due to perinatal or prenatal injury (13.7 ± 3.0 months) and 40 age-matched typically developing controls were recruited. These patients were divided into two age-matched groups, the high functioning group (20 patients) and the low functioning group (20 patients) using functional level of hemiplegia scale. Diffusion tensor tractography images showed that compared with the control group, the patient group of the less affected corticospinal tract showed significantly increased fiber number and significantly decreased fractional anisotropy value. Significantly increased fiber number and significantly decreased fractional anisotropy value in the low functioning group were observed than in the high functioning group. These findings suggest that activation of the less affected hemisphere presenting as increased fiber number and decreased fractional anisotropy value is related to poor motor function in pediatric hemiplegic patients.

  20. Effects of lifting the non-paretic foot on muscle activity during the semi-squat exercise in hemiplegic patients.

    Science.gov (United States)

    Lee, Dong-Kyu; Yu, Il-Young; Jung, In-Gui; Oh, Jae-Seop

    2015-06-01

    [Purpose] This study compared the electromyographic activity of the quadriceps in hemiplegic patients during the downward, maintenance, and upward phases of squat exercises performed with the feet parallel and with the non-paretic foot lifted. [Subjects] A total of 17 hemiplegic patients (9 males and 8 females) volunteered for this study. [Methods] All subjects performed squat exercises with the knees flexed to 30° and with the feet parallel (shoulder-width apart) or with lifting of the non-paretic foot (normalized to 25% of the knee height). [Results] The activity of the rectus femoris, vastus medialis oblique, and vastus lateralis muscles was significantly higher during squat exercises performed with the non-paretic foot lifted than with the feet parallel to each other. The activity of all muscles during the maintenance phase of the exercises was greater than that during the downward and upward phases. [Conclusion] Lifting the non-paretic foot during squats may represent an effective exercise for motor function rehabilitation in hemiplegic patients.

  1. Activation of less affected corticospinal tract and poor motor outcome in hemiplegic pediatric patients: a diffusion tensor tractography imaging study

    Directory of Open Access Journals (Sweden)

    Jin Hyun Kim

    2015-01-01

    Full Text Available The less affected hemisphere is important in motor recovery in mature brains. However, in terms of motor outcome in immature brains, no study has been reported on the less affected corticospinal tract in hemiplegic pediatric patients. Therefore, we examined the relationship between the condition of the less affected corticospinal tract and motor function in hemiplegic pediatric patients. Forty patients with hemiplegia due to perinatal or prenatal injury (13.7 ± 3.0 months and 40 age-matched typically developing controls were recruited. These patients were divided into two age-matched groups, the high functioning group (20 patients and the low functioning group (20 patients using functional level of hemiplegia scale. Diffusion tensor tractography images showed that compared with the control group, the patient group of the less affected corticospinal tract showed significantly increased fiber number and significantly decreased fractional anisotropy value. Significantly increased fiber number and significantly decreased fractional anisotropy value in the low functioning group were observed than in the high functioning group. These findings suggest that activation of the less affected hemisphere presenting as increased fiber number and decreased fractional anisotropy value is related to poor motor function in pediatric hemiplegic patients.

  2. The effects of stretching and stabilization exercise on the improvement of spastic shoulder function in hemiplegic patients.

    Science.gov (United States)

    You, Young Youl; Her, Jin Gang; Woo, Ji-Hea; Ko, Taesung; Chung, Sin Ho

    2014-04-01

    [Purpose] This study investigated the effects of stretching and joint stabilization exercises applied to spastic shoulder joints on improving shoulder dysfunction in hemiplegic patients. [Subjects and Methods] Hemiplegic patients were classified into three groups: one group received 30 min of traditional exercise therapy for the spastic shoulder joint; one group received 30 min stretching; and one group received 15 min of stretching and 15 min of joint stabilization exercises. The exercises were performed once a day, five times per week for eight weeks. Changes in the pathologic thickness of tendons and recovery of shoulder function were compared among the three groups. Differences among the three groups before the experiment, at four weeks, and at eight weeks were analyzed using repeated measures ANOVA. [Results] The stretching and joint stabilization exercise therapy group showed greater improvement in shoulder function than the traditional exercise therapy group and the stretching only group. This group also showed greater decreases in the pathologic thickness of tendons, than the other groups. [Conclusion] This study demonstrated that an exercise therapy program that combined stretching and joint stabilization exercise was more effective than other exercises for improvement of spastic shoulder joint dysfunction in hemiplegic patients.

  3. Upper Extremity Functional Evaluation by Fugl-Meyer Assessment Scoring Using Depth-Sensing Camera in Hemiplegic Stroke Patients.

    Science.gov (United States)

    Kim, Won-Seok; Cho, Sungmin; Baek, Dongyoub; Bang, Hyunwoo; Paik, Nam-Jong

    2016-01-01

    Virtual home-based rehabilitation is an emerging area in stroke rehabilitation. Functional assessment tools are essential to monitor recovery and provide current function-based rehabilitation. We developed the Fugl-Meyer Assessment (FMA) tool using Kinect (Microsoft, USA) and validated it for hemiplegic stroke patients. Forty-one patients with hemiplegic stroke were enrolled. Thirteen of 33 items were selected for upper extremity motor FMA. One occupational therapist assessed the motor FMA while recording upper extremity motion with Kinect. FMA score was calculated using principal component analysis and artificial neural network learning from the saved motion data. The degree of jerky motion was also transformed to jerky scores. Prediction accuracy for each of the 13 items and correlations between real FMA scores and scores using Kinect were analyzed. Prediction accuracies ranged from 65% to 87% in each item and exceeded 70% for 9 items. Correlations were high for the summed score for the 13 items between real FMA scores and scores obtained using Kinect (Pearson's correlation coefficient = 0.873, Phemiplegic side (1.81 ± 0.76) compared to non-hemiplegic side (1.21 ± 0.43) and showed significant negative correlations with Brunnstrom stage (3 to 6; Spearman correlation coefficient = -0.387, P = 0.046). FMA using Kinect is a valid way to assess upper extremity function and can provide additional results for movement quality in stroke patients. This may be useful in the setting of unsupervised home-based rehabilitation.

  4. Development of an Active Ankle Foot Orthosis to Prevent Foot Drop and Toe Drag in Hemiplegic Patients: A Preliminary Study

    Directory of Open Access Journals (Sweden)

    Jungyoon Kim

    2011-01-01

    Full Text Available We developed an active ankle-foot orthosis (AAFO that controls dorsiflexion/plantarflexion of the ankle joint to prevent foot drop and toe drag during hemiplegic walking. To prevent foot slap after initial contact, the ankle joint must remain active to minimize forefoot collision against the ground. During late stance, the ankle joint must also remain active to provide toe clearance and to aid with push-off. We implemented a series elastic actuator in our AAFO to induce ankle dorsiflexion/plantarflexion. The activator was controlled by signals from force sensing register (FSR sensors that detected gait events. Three dimensional gait analyses were performed for three hemiplegic patients under three different gait conditions: gait without AFO (NAFO, gait with a conventional hinged AFO that did not control the ankle joint (HAFO, and gait with the newly-developed AFO (AAFO. Our results demonstrate that our newly-developed AAFO not only prevents foot drop by inducing plantarflexion during loading response, but also prevents toe drag by facilitating plantarflexion during pre-swing and dorsiflexion during swing phase, leading to improvement in most temporal-spatial parameters. However, only three hemiplegic patients were included in this gait analysis. Studies including more subjects will be required to evaluate the functionality of our newly developed AAFO.

  5. A family member suicide causes “broken heart syndrome” – two cases of the tako-tsubo cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Salska, Agata

    2013-12-01

    Full Text Available Tako tsubo cardiomyopathy is a reversible form of an acute cardiac dysfunction connected with severe emotional or physical stress. An impact of mood disorders such as anxiety and depression in the tako-tsubo patients is investigated, authors reported its’ significantly higher prevalence in this group in the comparison with an acute coronary syndrome group. The exact pathogenesis remains uncertain. It’s clinical presentation often mimics an acute ST-segment elevation myocardial infarction (STEMI, without coronary artery obstruction in angiography. This case report presents two female patients hospitalized in the Intensive Cardiac Therapy Clinic, Medical University of Lódź, Poland, due to the tako-tsubo cardiomyopathy. In both cases the stress trigger, preceding the onset of symptoms was a family member suicide.

  6. Incidental Identification of Possible Delta-Beta Thalassemia Trait in a Family: A Rare Cause of Elevated Hb F.

    OpenAIRE

    Kumar, B. Vinodh; Choccalingam, Chidambharam; Samuel, Premila

    2016-01-01

    Delta-Beta thalassaemia is an unusual variant of thalassaemia with elevated level of foetal haemoglobin (HbF). The clinical presentation of delta-beta thalassaemia is mild in both heterozygote and homozygote cases. We hereby describe a rare cause of elevated Hb F in a father and his two daughters. A 52-year-old diabetic male patient, on evaluation of chromatogram of cation exchange HPLC for HbA1c, we incidentally identified elevated Hb F of approximately 20%. Haematological investigation of t...

  7. Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families.

    Science.gov (United States)

    Zhang, Juanjuan; Jiang, Pingping; Jin, Xiaofen; Liu, Xiaoling; Zhang, Minglian; Xie, Shipeng; Gao, Min; Zhang, Sai; Sun, Yan-Hong; Zhu, Jinping; Ji, Yanchun; Wei, Qi-Ping; Tong, Yi; Guan, Min-Xin

    2014-09-01

    In this report, we investigated the molecular mechanism underlying Leber's hereditary optic neuropathy (LHON)-associated mitochondrial m.3635G>A (p.S110N, ND1) mutation. A mutational screening of ND1 gene in a cohort of 1070 Han Chinese subjects LHON identified the m.3635G>A mutation in nine Chinese families with suggestively maternally transmitted LHON. Thirty-eight (22 males/16 females) of 162 matrilineal relatives in these families exhibited the variable severity and age-at-onset of optic neuropathy. Molecular analysis of their mitochondrial genomes identified the homoplasmic m.3635G>A mutation and distinct sets of polymorphisms belonging to the Asian haplogroups G2a1, R11a, D4, R11a, M7b2, G1a, F1a1, B4, and N9a3, respectively. Using cybrids constructed by transferring mitochondria from lymphoblastoid cell lines derived from one Chinese family into mtDNA-less (ρ(0)) cells, we showed ~27% decrease in the activity of NADH:ubiquinone oxidoreductase (complex I) in mutant cybrids carrying the m.3635G>A mutation, compared with control cybrids. The respiratory deficiency caused by the m.3635G>A mutation results in decreased efficiency of mitochondrial ATP synthesis. These mitochondrial dysfunctions caused an increase in the production of reactive oxygen species in the mutant cybrids. The data provide the direct evidence for the m.3635G>A mutation leading to LHON. Our findings may provide new insights into the understanding of pathophysiology of LHON.

  8. A型肉毒毒素注射配合康复功能训练对痉挛型偏瘫脑瘫患儿上肢运动功能疗效观察%Effect of Botulinum Toxin Type A Injection Combined with Rehabilitation Functional Training on Upper Extremity Motor Function in Children with Spastic Hemiplegic Cerebral Palsy

    Institute of Scientific and Technical Information of China (English)

    颜华; 张惠佳; 阳伟红; 王益梅; 郭春光; 胡继红; 周平秋; 何金华; 段华林

    2012-01-01

    目的 观察A型肉毒毒素(BTX-A)注射治疗配合康复功能训练对痉挛型偏瘫脑瘫患儿上肢功能障碍的疗效.方法 60例痉挛型偏瘫型脑瘫患儿均接受BTX-A注射治疗,治疗后进行强制性诱导运动训练、物理疗法、肌电生物反馈治疗、作业治疗及家庭训练.在治疗前与治疗3个月后,分别用改良Ashworth痉挛量表(MAS)评定患侧上肢肌张力、关节量角器法测量患侧腕关节主动背伸角度、Peabody运动发育量表(PDMS-II)进行患侧手精细运动商(FMQ)的评估、日常生活活动能力(ADL)量表评估ADL能力以比较观察疗效.结果 治疗后患儿上述指标均较治疗前显著改善(P<0.001).结论 BTX-A注射治疗配合康复功能训练能明显降低痉挛型偏瘫型脑瘫患儿的上肢肌张力,改善关节活动范围,明显提高上肢运动功能.%Objective To observe the effect of Botulinum toxin type A (BTX-A) injection combined with rehabilitation functional training on upper extremity motor function in children with spastic hemiplegic cerebral palsy (CP). Methods 60 spastic hemiplegic CP children were treated with constraint-induced movement therapy (CIMT), physical therapy, electromyographic biofeedback stimulation therapy, occupational therapy, family-based training and so on after injected with BTX-A. The muscle tension of the hemiplegic upper extremity accessed by Modified Ashworth Scale (MAS), the wrist angle of active dorsiextention motion by orthrometer, fine movement quotient (FMQ) by Pea-body developmental motor scale (PDMS- II), and activities of daily living (ADL) were performed to evaluate the effects before and 3 months after treatment. Results These outcomes were improved significantly after treatment (P<0.001). Conclusion BTX-A injection combined with rehabilitation functional training could rapidly reduce spasticity of the upper extremity, increase the range of motion, improve motor function of upper extremity in children with spastic

  9. Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.

    Science.gov (United States)

    Schanze, Ina; Schanze, Denny; Bacino, Carlos A; Douzgou, Sofia; Kerr, Bronwyn; Zenker, Martin

    2013-02-01

    Intellectual disability (ID) is a clinically and genetically heterogeneous condition; the cause is unknown in most non-specific and sporadic cases. To establish an etiological basis in those patients represents a difficult challenge. Over the last years it has become apparent that chromosomal rearrangements below the detection level of conventional karyotyping contribute significantly to the cause of ID. We present three patients with non-specific intellectual disability who all have overlapping microdeletions in the chromosomal region 12p12.1. De novo occurrence of the deletion could be proven in the two cases from which parental samples were available. All three identified deletions have different breakpoints and range in size from 120 kb to 4.9 Mb. The smallest deletion helps to narrow down the critical region to a genomic segment (chr12:23,924,800-24,041,698, build 37/hg19) encompassing only one gene, SOX5. SOX5 is a member of the SOX (SRY-related HMG-box) family of transcription factors shown to play roles in chondroblast function, oligodendrocyte differentiation and migration, as well as ensuring proper development of specific neuronal cell types. Because of these biological functions, mutations in SOX5 are predicted to cause complex disease syndromes, as it is the case for other SOX genes, but such mutations have not yet been identified. Our findings indicate that haploinsufficiency of SOX5 is a cause of intellectual disability without any striking physical anomalies.

  10. [The distributional clines in P susceptibility causing by the P family transposable element in Drosophila melanogaster population of China].

    Science.gov (United States)

    Hu, K; Wang, Q M

    1998-01-01

    An extensive survey of the P family transposable element of Drosophila melanogaster in China, from the far west as Xinjiang and Xizang (Tibet) to the east coast, covered all China was provided. Strains, sampling more than 70 localities, which were collected during 1980-1995. In the term of the PM system, the phenotypic property of it was mainly M type, including Taiwan. The molecular test determined, it was M type. There were three localities, the P activity of them were higher as Q type. They are: Dalian Peninsular. Chongming island, near Shanghai and Taizhong of Taiwan. For analyzed geographically, according to the east longitudes, grouped the country to four parts. After comparison, two dividing lines were found: 1. The East longitude of 115 degrees, it was between Area II and Area III, see Fig. 4, separating the coastal from inland. Except the P susceptibility of the northeastern three provinces was little higher, about 30.37%, the most part of the east coastal, the first line, its P susceptibility was very week. Seven strains were 0, fifteen strains were under 10%; its P activity was also low, never beyond 10%. Therefore, it was appeared neutral, its average was 7.23%. That was the major neutral property of the coastal areas. The second line of little increased P susceptibility averaged about 26.67%. Then, there was the third line was, when the line was the more westward, its P susceptibility was higher, up to 87%, closing to the highest score of middlewest part of the country. From the east coast to the west, there were three gradually increased P susceptibility lines pushing forward could be found. The E 115 degrees, it was between the lines of the second and the third. 2. Besides the East Longitude of 115 degrees, there is another natural geographic line shows its potentiality, that is the Tropic of Cancer. It divided the coastal to two parts, the localities at the south of this line, they did not show the coastal characteristic, instead of neutral or very

  11. Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus.

    Science.gov (United States)

    Kuwahara, M; Iwai, K; Ooeda, T; Igarashi, T; Ogawa, E; Katsushima, Y; Shinbo, I; Uchida, S; Terada, Y; Arthus, M F; Lonergan, M; Fujiwara, T M; Bichet, D G; Marumo, F; Sasaki, S

    2001-10-01

    The vasopressin-regulated water channel aquaporin-2 (AQP2) is known to tetramerize in the apical membrane of the renal tubular cells and contributes to urine concentration. We identified three novel mutations, each in a single allele of exon 4 of the AQP2 gene, in three families showing autosomal dominant nephrogenic diabetes insipidus (NDI). These mutations were found in the C-terminus of AQP2: a deletion of G at nucleotide 721 (721 delG), a deletion of 10 nucleotides starting at nucleotide 763 (763-772del), and a deletion of 7 nucleotides starting at nucleotide 812 (812-818del). The wild-type AQP2 is predicted to be a 271-amino acid protein, whereas these mutant genes are predicted to encode proteins that are 330-333 amino acids in length, because of the frameshift mutations. Interestingly, these three mutant AQP2s shared the same C-terminal tail of 61 amino acids. In Xenopus oocytes injected with mutant AQP2 cRNAs, the osmotic water permeability (Pf) was much smaller than that of oocytes with the AQP2 wild-type (14%-17%). Immunoblot analysis of the lysates of the oocytes expressing the mutant AQP2s detected a band at 34 kD, whereas the immunoblot of the plasma-membrane fractions of the oocytes and immunocytochemistry failed to show a significant surface expression, suggesting a defect in trafficking of these mutant proteins. Furthermore, coinjection of wild-type cRNAs with mutant cRNAs markedly decreased the oocyte Pf in parallel with the surface expression of the wild-type AQP2. Immunoprecipitation with antibodies against wild-type and mutant AQP2 indicated the formation of mixed oligomers composed of wild-type and mutant AQP2 monomers. Our results suggest that the trafficking of mutant AQP2 is impaired because of elongation of the C-terminal tail, and the dominant-negative effect is attributed to oligomerization of the wild-type and mutant AQP2s. Segregation of the mutations in the C-terminus of AQP2 with dominant-type NDI underlies the importance of this

  12. Migraine-Induced Epistaxis and Sporadic Hemiplegic Migraine: Unusual Features in the Same Patient

    Directory of Open Access Journals (Sweden)

    José Barros

    2012-06-01

    Full Text Available Background: Since the mid-19th century, epistaxis and migraine have been occasionally associated with each other. Nevertheless, we found only two cases in the contemporary medical literature. Sporadic hemiplegic migraine is a subtype of migraine with reversible motor deficits, without similar episodes in relatives. Case: We describe a 47-year-old male with a history of migraine with a scintillating scotoma starting at the age of 20. In some of the episodes, he developed epistaxis in the resolution phase of migraine. At the age of 35, he experienced a visual aura followed by transient aphasia, left crural weakness and headache. Contralateral similar episodes occurred in the subsequent months. Neurological examination and MRI were normal. Mutations in CACNA1A, ATP1A2, SCN1A and NOTCH3 were excluded. Discussion: Three distinct aspects deserve our consideration. This is the first report of migraine-induced epistaxis involving aura; the scarcity of similar reports may be due to the lack of a guided anamnesis. The complex aura presented had a peculiar topography, inconsistent with the classical analytical neurological semiology. This may suggest that the spreading depression affects the brain bilaterally but in an uneven and elective manner. Lastly, the present report conveys that the late appearance of complex auras requires improbable interactions between environmental and endogenous conditions in individuals with a genetic predisposition.

  13. Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients

    DEFF Research Database (Denmark)

    Thomsen, L.L.; Oestergaard, E.; Bjornsson, A.;

    2008-01-01

    The aim of this study was to investigate the involvement of the CACNA1A and ATP1A2 gene in a population-based sample of sporadic hemiplegic migraine (SHM). Patients with SHM (n = 105) were identified in a nationwide search in the Danish population. We sequenced all exons and promoter regions...... of the CACNA1A and ATP1A2 genes in 100 patients with SHM to search for possible SHM mutations. Novel DNA variants were discovered in eight SHM patients, four in exons of the CACNA1A gene and four in exons of the ATP1A2 gene. Six of the variants were considered non-pathogenic. The causal role of the two...... remaining DNA variants is unknown until functional studies have been made or independent genetic evidence is discovered. Only very few DNA variants were identified in 100 SHM patients, and regardless of whether the identified variants are causal the CACNA1A and ATP1A2 genes are not major genes in SHM...

  14. Pain syndromes in hemiplegic patients and their effects on rehabilitation results.

    Science.gov (United States)

    Caglar, Nil Sayiner; Akin, Turkan; Aytekin, Ebru; Komut, Ece Akyol; Ustabasioglu, Fatma; Okur, SibelCaglar; Dogan, YaseminPekin; Erdem, Halil İbrahim; Ataoglu, Emine; Yalcinkaya, EbruYilmaz

    2016-03-01

    [Purpose] The aim of this study was to determine the frequency, type, and location of pain in hemiplegic patients and the effects on rehabilitation results in our inpatient rehabilitation unit. [Subjects and Methods] Patients rehabilitated between January 2010 and July 2012 were investigated retrospectively. Properties of pain were recorded. Pre- and post-rehabilitation motor evaluation and achievement in daily activities were considered, and differences in scores between groups classified as with and without pain were examined. [Results] The number of patients included in the study was 156. The mean age was 64.28 ± 12.45 years, the mean disease duration was 11.10 months, and the gender distribution was 75 males (48%) and 81 females (52%). Fortysix (29.5%) patients had pain complaints. The nociceptive pain ratio was 86.7%, and the neuropathic pain ratio was 13.3%. Pain was mostly localized at the shoulder joint, with the proportion being 86.9%. In the pain group, statistically significant improvement was found in pain scores after the treatment. There was no significant difference between groups in the pre- and post-rehabilitation Brunnstrom motor evaluation and functional independence measurement scores. [Conclusion] Nociceptive pain is more common than neuropathic pain in patients with hemiplegia, and the shoulder joint is the most frequent location of nociceptive pain.

  15. Effect of kinesio tape application on hemiplegic shoulder pain and motor ability: a pilot study.

    Science.gov (United States)

    Kalichman, Leonid; Frenkel-Toledo, Silvi; Vered, Elisha; Sender, Iris; Galinka, Tal; Alperovitch-Najenson, Deborah; Ratmansky, Motti; Treger, Iuly

    2016-09-01

    The aim of our single-group pre-post design pilot study was to evaluate the short-term effect of kinesio taping (KT) application on pain and motor ability of hemiplegic shoulder pain (HSP) patients. Eleven poststroke patients with HSP hospitalized in the Department of Neurology C, Loewenstein Rehabilitation Hospital, Raanana, Israel, received a KT application in addition to their usual rehabilitation protocol. KT, consisting of one to three strips according to a predefined algorithm, was applied to the painful shoulder region. A 10 cm Visual Analog Scale of shoulder pain at rest and at arm movement, active and passive pain-free abduction range of motion, Box & Blocks, and Fugl-Meyer upper extremity motor assessment were performed before treatment and 24 h after wearing the KT. After applying the KT, there was no significant change in any variables. Short-term KT application, used in our study, produced no change in shoulder pain, range of motion, or ability of upper limb in HSP patients. Additional studies should evaluate the effect of long-term application and different types of KT applications on HSP.

  16. Efficacy of a hybrid assistive limb in post-stroke hemiplegic patients: a preliminary report

    Directory of Open Access Journals (Sweden)

    Takeda Koji

    2011-09-01

    Full Text Available Abstract Background Robotic devices are expected to be widely used in various applications including support for the independent mobility of the elderly with muscle weakness and people with impaired motor function as well as support for nursing care that involves heavy laborious work. We evaluated the effects of a hybrid assistive limb robot suit on the gait of stroke patients undergoing rehabilitation. Methods The study group comprised 16 stroke patients with severe hemiplegia. All patients underwent gait training. Four patients required assistance, and 12 needed supervision while walking. The stride length, walking speed and physiological cost index on wearing the hybrid assistive limb suit and a knee-ankle-foot orthosis were compared. Results The hybrid assistive limb suit increased the stride length and walking speed in 4 of 16 patients. The patients whose walking speed decreased on wearing the hybrid assistive limb suit either had not received sufficient gait training or had an established gait pattern with a knee-ankle-foot orthosis using a quad cane. The physiological cost index increased after wearing the hybrid assistive limb suit in 12 patients, but removal of the suit led to a decrease in the physiological cost index values to equivalent levels prior to the use of the suit. Conclusions Although the hybrid assistive limb suit is not useful for all hemiplegic patients, it may increase the walking speed and affect the walking ability. Further investigation would clarify its indication for the possibility of gait training.

  17. Neural network and fuzzy control in FES-assisted locomotion for the hemiplegic.

    Science.gov (United States)

    Chen, Yu-Luen; Chen, Shih-Ching; Chen, Weoi-Luen; Hsiao, Chin-Chih; Kuo, Te-Son; Lai, Jin-Shin

    2004-01-01

    This study is aimed at establishing a neural network and fuzzy feedback control FES system used for adjusting the optimum electrical stimulating current to control the motion of an ankle joint. The proposed method further improves the drop-foot problem existing in hemiplegia patients. The proposed system includes both hardware and software. The hardware system determines the patient's ankle joint angle using a position sensor located in the patient's affected side. This sensor stimulates the tibialis anterior with an electrical stimulator that induces the dorsiflexion action and achieves the ideal ankle joint trace motion. The software system estimates the stimulating current using a neural network. The fuzzy controller solves the nonlinear problem by compensating the motion trace errors between the neural network control and actual system. The control qualities of various controllers for four subjects were compared in the clinical test. It was found that both the root mean square error and the mean error were minimal when using the neural network and fuzzy controller. The drop-foot problem in hemiplegic's locomotion was effectively improved by incorporating the neural network and fuzzy controller with the functional electrical simulator.

  18. Development of Device to Evoke Stretch Reflexes by Use of Electromagnetic Force for the Rehabilitation of the Hemiplegic Upper Limb after Stroke

    Science.gov (United States)

    Hayashi, Ryota; Ishimine, Tomoyasu; Kawahira, Kazumi; Yu, Yong; Tsujio, Showzow

    In this research, we focus on the method of rehabilitation with stretch reflexes for the hemiplegic upper limb in stroke patients. We propose a new device which utilizes electromagnetic force to evoke stretch reflexes. The device can exert an assisting force safely, because the electromagnetic force is non contact force. In this paper, we develop a support system applying the proposed device for the functional recovery training of the hemiplegic upper limb. The results obtained from several clinical tests with and without our support system are compared. Then we discuss the validity of our support system.

  19. Motor function outcomes of pediatric patients with hemiplegic cerebral palsy after rehabilitation treatment: a diffusion tensor imaging study

    Directory of Open Access Journals (Sweden)

    Jin Hyun Kim

    2015-01-01

    Full Text Available Previous diffusion tensor imaging (DTI studies regarding pediatric patients with motor dysfunction have confirmed the correlation between DTI parameters of the injured corticospinal tract and the severity of motor dysfunction. There is also evidence that DTI parameters can help predict the prognosis of motor function of patients with cerebral palsy. But few studies are reported on the DTI parameters that can reflect the motor function outcomes of pediatric patients with hemiplegic cerebral palsy after rehabilitation treatment. In the present study, 36 pediatric patients with hemiplegic cerebral palsy were included. Before and after rehabilitation treatment, DTI was used to measure the fiber number (FN, fractional anisotropy (FA and apparent diffusion coefficient (ADC of bilateral corticospinal tracts. Functional Level of Hemiplegia scale (FxL was used to assess the therapeutic effect of rehabilitative therapy on clinical hemiplegia. Correlation analysis was performed to assess the statistical interrelationship between the change amount of DTI parameters and FxL. DTI findings obtained at the initial and follow-up evaluations demonstrated that more affected corticospinal tract yielded significantly decreased FN and FA values and significantly increased ADC value compared to the less affected corticospinal tract. Correlation analysis results showed that the change amount of FxL was positively correlated to FN and FA values, and the correlation to FN was stronger than the correlation to FA. The results suggest that FN and FA values can be used to evaluate the motor function outcomes of pediatric patients with hemiplegic cerebral palsy after rehabilitation treatment and FN is of more significance for evaluation.

  20. Motor function outcomes of pediatric patients with hemiplegic cerebral palsy after rehabilitation treatment: a diffusion tensor imaging study.

    Science.gov (United States)

    Kim, Jin Hyun; Kwon, Yong Min; Son, Su Min

    2015-04-01

    Previous diffusion tensor imaging (DTI) studies regarding pediatric patients with motor dysfunction have confirmed the correlation between DTI parameters of the injured corticospinal tract and the severity of motor dysfunction. There is also evidence that DTI parameters can help predict the prognosis of motor function of patients with cerebral palsy. But few studies are reported on the DTI parameters that can reflect the motor function outcomes of pediatric patients with hemiplegic cerebral palsy after rehabilitation treatment. In the present study, 36 pediatric patients with hemiplegic cerebral palsy were included. Before and after rehabilitation treatment, DTI was used to measure the fiber number (FN), fractional anisotropy (FA) and apparent diffusion coefficient (ADC) of bilateral corticospinal tracts. Functional Level of Hemiplegia scale (FxL) was used to assess the therapeutic effect of rehabilitative therapy on clinical hemiplegia. Correlation analysis was performed to assess the statistical interrelationship between the change amount of DTI parameters and FxL. DTI findings obtained at the initial and follow-up evaluations demonstrated that more affected corticospinal tract yielded significantly decreased FN and FA values and significantly increased ADC value compared to the less affected corticospinal tract. Correlation analysis results showed that the change amount of FxL was positively correlated to FN and FA values, and the correlation to FN was stronger than the correlation to FA. The results suggest that FN and FA values can be used to evaluate the motor function outcomes of pediatric patients with hemiplegic cerebral palsy after rehabilitation treatment and FN is of more significance for evaluation.

  1. Motor function outcomes of pediatric patients with hemiplegic cerebral palsy after rehabilitation treatment:a diffusion tensor imaging study

    Institute of Scientific and Technical Information of China (English)

    Jin Hyun Kim; Yong Min Kwon; Su Min Son

    2015-01-01

    Previous diffusion tensor imaging (DTI) studies regarding pediatric patients with motor dys-function have conifrmed the correlation between DTI parameters of the injured corticospinal tract and the severity of motor dysfunction. There is also evidence that DTI parameters can help predict the prognosis of motor function of patients with cerebral palsy. But few studies are re-ported on the DTI parameters that can relfect the motor function outcomes of pediatric patients with hemiplegic cerebral palsy after rehabilitation treatment. In the present study, 36 pediatric patients with hemiplegic cerebral palsy were included. Before and after rehabilitation treatment, DTI was used to measure the ifber number (FN), fractional anisotropy (FA) and apparent dif-fusion coefifcient (ADC) of bilateral corticospinal tracts. Functional Level of Hemiplegia scale (FxL) was used to assess the therapeutic effect of rehabilitative therapy on clinical hemiplegia. Correlation analysis was performed to assess the statistical interrelationship between the change amount of DTI parameters and FxL. DTI ifndings obtained at the initial and follow-up evalua-tions demonstrated that more affected corticospinal tract yielded signiifcantly decreased FN and FA values and signiifcantly increased ADC value compared to the less affected corticospinal tract. Correlation analysis results showed that the change amount of FxL was positively correlated to FN and FA values, and the correlation to FN was stronger than the correlation to FA. The results suggest that FN and FA values can be used to evaluate the motor function outcomes of pediatric patients with hemiplegic cerebral palsy after rehabilitation treatment and FN is of more signiif-cance for evaluation.

  2. Constraint-induced movement therapy improves upper limb activity and participation in hemiplegic cerebral palsy: a systematic review

    Directory of Open Access Journals (Sweden)

    Hsiu-Ching Chiu

    2016-07-01

    Full Text Available Questions: Does constraint-induced movement therapy improve activity and participation in children with hemiplegic cerebral palsy? Does it improve activity and participation more than the same dose of upper limb therapy without restraint? Is the effect of constraint-induced movement therapy related to the duration of intervention or the age of the children? Design: Systematic review of randomised trials with meta-analysis. Participants: Children with hemiplegic cerebral palsy with any level of motor disability. Intervention: The experimental group received constraint-induced movement therapy (defined as restraint of the less affected upper limb during supervised activity practice of the more affected upper limb. The control group received no intervention, sham intervention, or the same dose of upper limb therapy. Outcome measures: Measures of upper limb activity and participation were used in the analysis. Results: Constraint-induced movement therapy was more effective than no/sham intervention in terms of upper limb activity (SMD 0.63, 95% CI 0.20 to 1.06 and participation (SMD 1.21, 95% CI 0.41 to 2.02. However, constraint-induced movement therapy was no better than the same dose of upper limb therapy without restraint either in terms of upper limb activity (SMD 0.05, 95% CI –0.21 to 0.32 or participation (SMD –0.02, 95% CI –0.34 to 0.31. The effect of constraint-induced movement therapy was not related to the duration of intervention or the age of the children. Conclusions: This review suggests that constraint-induced movement therapy is more effective than no intervention, but no more effective than the same dose of upper limb practice without restraint. Registration: PROSPERO CRD42015024665. [Chiu H-C, Ada L (2016 Constraint-induced movement therapy improves upper limb activity and participation in hemiplegic cerebral palsy: a systematic review. Journal of Physiotherapy 62: 130–137

  3. Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families

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    Mohammad Al-Haggar

    2011-01-01

    Full Text Available Background. Fanconi-Bickel syndrome (FBS is an autosomal recessive disorder caused by defects in facilitative glucose transporter 2 (GLUT2 or SLC2A2 gene mapped on chromosome 3q26.1-26.3, that codes for the glucose transporter protein 2. Methods. Two unrelated Egyptian families having suspected cases of FBS were enrolled after taking a written informed consent; both had positive consanguinity, and index cases had evidences of proximal renal tubular defects with hepatomegaly; they were subjected to history taking, signs of rickets as well as anthropometric measurements. Laboratory workup included urinalysis, renal and liver function tests including fasting and postprandial blood sugar; serum calcium, phosphorus, alkaline phosphatase, sodium and potassium, lipid profile, and detailed blood gas. Imaging including bone survey and abdominal ultrasound, and liver biopsy were done to confirm diagnosis. Molecular analysis of the GLUT2 gene was done for DNA samples extracted from peripheral blood leukocyte. All coding sequences, including flanking introns in GLUT2 gene, were amplified using PCR followed by direct sequencing. Results. Two new mutations had been detected, one in each family, in exon 3 two bases (GA were deleted (c.253 254delGA and in exon 6 in the second family, G-to-C substitution at position-1 of the splicing acceptor site (c.776-1G>C or IVS5-1G>A. Conclusion. FBS is a rare disease due to mutation in GLUT2 gene; many mutations were reported, about half were novel mutations; yet none of these mutations is more frequent. A more extensive survey for the most frequent mutations among FBS has to be contemplated to allow for use of molecular screening tests like ARMS.

  4. Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.

    Science.gov (United States)

    Cheng, Jing; Zhou, Xueya; Lu, Yu; Chen, Jing; Han, Bing; Zhu, Yuhua; Liu, Liyang; Choy, Kwong-Wai; Han, Dongyi; Sham, Pak C; Zhang, Michael Q; Zhang, Xuegong; Yuan, Huijun

    2014-11-01

    Autosomal dominant types of nonsyndromic hearing loss (ADNSHL) are typically postlingual in onset and progressive. High genetic heterogeneity, late onset age, and possible confounding due to nongenetic factors hinder the timely molecular diagnoses for most patients. In this study, exome sequencing was applied to investigate a large Chinese family segregating ADNSHL in which we initially failed to find strong evidence of linkage to any locus by whole-genome linkage analysis. Two affected family members were selected for sequencing. We identified two novel mutations disrupting known ADNSHL genes and shared by the sequenced samples: c.328C>A in COCH (DFNA9) resulting in a p.Q110K substitution and a deletion c. 2814_2815delAA in MYO6 (DFNA22) causing a frameshift alteration p.R939Tfs*2. The pathogenicity of novel coding variants in ADNSHL genes was carefully evaluated by analysis of co-segregation with phenotype in the pedigree and in light of established genotype-phenotype correlations. The frameshift deletion in MYO6 was confirmed as the causative variant for this pedigree, whereas the missense mutation in COCH had no clinical significance. The results allowed us to retrospectively identify the phenocopy in one patient that contributed to the negative finding in the linkage scan. Our clinical data also supported the emerging genotype-phenotype correlation for DFNA22.

  5. Mutation of a family 8 glycosyltransferase gene alters cell wall carbohydrate composition and causes a humidity-sensitive semi-sterile dwarf phenotype in Arabidopsis.

    Science.gov (United States)

    Lao, Nga T; Long, Debbie; Kiang, Sophie; Coupland, George; Shoue, Douglas A; Carpita, Nicholas C; Kavanagh, Tony A

    2003-11-01

    The genome of Arabidopsis thaliana contains about 400 genes coding for glycosyltransferases, many of which are predicted to be involved in the synthesis and remodelling of cell wall components. We describe the isolation of a transposon-tagged mutant, parvus, which under low humidity conditions exhibits a severely dwarfed growth phenotype and failure of anther dehiscence resulting in semi-sterility. All aspects of the mutant phenotype were partially rescued by growth under high-humidity conditions, but not by the application of growth hormones or jasmonic acid. The mutation is caused by insertion of a maize Dissociation (Ds) element in a gene coding for a putative Golgi-localized glycosyltransferase belonging to family 8. Members of this family, originally identified on the basis of similarity to bacterial lipooligosaccharide glycosyltransferases, include enzymes known to be involved in the synthesis of bacterial and plant cell walls. Cell-wall carbohydrate analyses of the parvus mutant indicated reduced levels of rhamnogalacturonan I branching and alterations in the abundance of some xyloglucan linkages that may, however, be indirect consequences of the mutation. PMID:15010604

  6. The effect of the Nintendo Wii Fit on balance control and gross motor function of children with spastic hemiplegic cerebral palsy

    NARCIS (Netherlands)

    Jelsma, Jennifer; Pronk, Marieke; Ferguson, Gillian; Jelsma-Smit, Dorothee

    2013-01-01

    Objective: To study the impact of training using the Nintendo Wii Fit in 14 children with spastic hemiplegic cerebral palsy. Methods: A single-subject single blinded design with multiple subjects and baselines was utilised. Interactive video gaming (IVG) in lieu of regular physiotherapy was given fo

  7. COMPARATIVE STUDY OF IONTOPHORESIS BY DEXAMETHASONE AND TRANSCUTANEOUS ELECTRICAL NERVE STIMULATION IN THE TREATMENT OF PAINFUL HEMIPLEGIC SHOULDER

    Directory of Open Access Journals (Sweden)

    Suvarna Ganvir

    2012-08-01

    Full Text Available To study the short & long term effect of iontophoresis by dexamethasone & transcutaneous electrical nerve stimulation for the relief of pain & improvement of functional capacity in patients with painful hemiplegic shoulder. In this double blinded, randomised, trial of 63 (2 patients discontinued the study patients with painful hemiplegic shoulder were recruited from rehabilitation unit. They were randomly divided into two groups. One of the group received maximum twelve treatments of iontophoresis to the site of maximum tenderness on the anterior & lateral aspect of shoulder joint. Other group received transcutaneous electrical nerve stimulation (TENS to the region of shoulder joint. Stiffness and pain were recorded at the initial session; follow up at two, four & eight weeks. Data from 59 subjects were used in the study. After the treatment phase, all groups showed significant improvements in average pain, and functional ability. However, iontophoresis group showed a significantly greater improvement than the TENS intervention (p = 0.031. At the follow up, similar improvement was noted. Twelve treatments of dexamethasone iontophoresis combined with taping gave greater relief from morning pain than TENS group. For the best clinical results at four weeks, taping combined with dexamethasone is the preferred treatment option compared with taping & TENS.

  8. Effect of modified constraint induced movement therapy on weight bearing and protective extension in children with hemiplegic cerebral palsy

    Directory of Open Access Journals (Sweden)

    Masoud Gharib

    2012-01-01

    Full Text Available Background: Constraint induced movement therapy is one of the new therapeutic interventions that limits the performance of intact upper limb with increased use of the affected limb. Aim of this study was to investigate the effects of modified constraint induced movement therapy on weight bearing & protective extension in children with hemiplegic cerebral palsy.Methods: 21 hemiplegic children were selected and randomly divided into experimental and control groups. Common Practices of Occupational Therapy applied for 6 weeks in both groups equally and test group received constrain induced movement therapy for three hours every day. Weight-bearing and protective extension was measured based on quality of test skills of upper limbs (QUEST. Data analyzed using appropriated statistical methods. Results: 11 children in the experimental group (7 girls, 4 boys with mean age 47.2 ± 55.5 months and 10 children in the control group (5 girls, 5 boys with mean age 19.2 ± 10.5 months were studied. No significant difference observed before and after six weeks intervention between two groups (P>0.05. There was a significant change before and after six weeks intervention in both subscales (P<0.05.Conclusion: This study showed that modified constraint induced movement therapy may affect weight bearing, but has no effect on the protective extension.

  9. Differences in Rheobase and Chronaxie between the Paretic and Non-Paretic Sides of Hemiplegic Stroke Patients: a Pilot Study.

    Science.gov (United States)

    Lee, Won-Deok; Kim, Ju-Hyun; Lee, Jeong-Uk; Kim, Mee-Young; Lee, Lim-Kyu; Yang, Seung-Min; Jeon, Hye-Joo; Lee, Tae-Hyun; Kim, Junghwan

    2013-06-01

    [Purpose] Rheobase and chronaxie are used to confirm muscle degeneration. For stroke patients, however, the uses of rheobase and chronaxie in determining paretic side muscle degeneration is not yet fully understood. Thus, in this study, we examined the electrical properties of the quadriceps muscles of stroke patients' paretic side and compared them with their respective values on the non-paretic side. [Method] The subjects were six stroke patients (three females, three males). The pad of an electrical stimulator was applied to the vastus lateralis and vastus medialis regions to measure rheobase and chronaxie until the contractive muscle response to electrical stimulation became visible. [Result] Rheobase was significantly increased on the paretic side compared to that of the non-paretic side of hemiplegic stroke patients. Furthermore, chronaxie was significantly increased on the paretic side compared to the non-paretic side of hemiplegic stroke patients. [Conclusion] These results suggest that stroke affects the sensitivity of skeletal muscle contraction. Therefore, this data may contribute to our understanding of the muscle status of stroke patients.

  10. Immediate effects of the activation of the affected lower limb on the balance and trunk mobility of hemiplegic stroke patients.

    Science.gov (United States)

    Kim, Young-Dong; Lee, Kyoung-Bo; Roh, Hyo-Lyun

    2015-05-01

    [Purpose] The purpose of this study was to determine the effects of the activation of the affected lower limb on balance and the trunk hemiplegic mobility of stroke patients. [Subjects] The gait group (GG) consisted of 6 subjects with hemiplegia and the non-gait group (NGG) consisted of 6 hemiplegic subjects. [Methods] The subjects in both groups were given foot facilitation training once for 30 min. The Spinal Mouse was used to measure the spinal alignment and the Berg balance scale (BBS) and sensory tests were also performed. [Results] In the GG, the sacral hip in upright to flexion, the lumbar spine in upright to extension, and the sacral hip and lumbar spine in flexion to extension showed significant increases in their angles after the intervention. In addition, there was a significant increase in the angle of the lumbar spine during extension from an upright position in the NGG. The BBS scores of both groups also increased significantly. [Conclusion] The intervention resulted in improvements in the angle of anterior pelvic tilt in the GG, and subjects in the NGG showed more extension of the thorax, which was regarded as compensation to avoid falling forward when flexing from an upright position. However, when extending backward from an upright position, both groups tended to control balance by using more lumbar flexion to keep the center of mass (COM) within the base of support (BOS). Both groups had better BBS scores.

  11. Motion analysis of wheelchair propulsion movements in hemiplegic patients: effect of a wheelchair cushion on suppressing posterior pelvic tilt.

    Science.gov (United States)

    Kawada, Kyohei; Matsuda, Tadamitsu; Takanashi, Akira; Miyazima, Shigeki; Yamamoto, Sumiko

    2015-03-01

    [Purpose] This study sought to ascertain whether, in hemiplegic patients, the effect of a wheelchair cushion to suppress pelvic posterior tilt when initiating wheelchair propulsion would continue in subsequent propulsions. [Subjects] Eighteen hemiplegic patients who were able to propel a wheelchair in a seated position participated in this study. [Methods] An adjustable wheelchair was fitted with a cushion that had an anchoring function, and a thigh pad on the propulsion side was removed. Propulsion movements from the seated position without moving through three propulsion cycles were measured using a three-dimensional motion analysis system, and electromyography was used to determine the angle of pelvic posterior tilt, muscle activity of the biceps femoris long head, and propulsion speed. [Results] Pelvic posterior tilt could be suppressed through the three propulsion cycles, which served to increase propulsion speed. Muscle activity of the biceps femoris long head was highest when initiating propulsion and decreased thereafter. [Conclusion] The effect of the wheelchair cushion on suppressing pelvic posterior tilt continued through three propulsion cycles.

  12. Electrophysiological and clinical evaluation of the effects of transcutaneous electrical nerve stimulation on the spasticity in the hemiplegic stroke patients.

    Science.gov (United States)

    Karakoyun, Ahmet; Boyraz, İsmail; Gunduz, Ramazan; Karamercan, Ayşe; Ozgirgin, Nese

    2015-11-01

    To investigate whether transcutaneous electrical nerve stimulation (TENS) mitigates the spasticity of hemiplegic stroke patients, as assessed by electrophysiological variables, and the effects, if any, on the clinical appearance of spasticity. [Subjects and Methods] Twenty-seven subjects who had acute hemiplegia and 24 healthy people as the control group, were enrolled in this study. Some of the acute cerebrovascular disease patients could walk. Subjects who did not have spasticity, who were taking antispasticity medicine, or had a previous episode of cerebrovascular disease were excluded. The walking speed of the patients was recorded before and after TENS. EMG examinations were performed on the healthy controls and in the affected side of the patients. A 30-minute single session of TENS was applied to lower extremity. At 10 minutes after TENS, the EMG examinations were repeated. [Results] A statistically significant decrease in the spasticity variables, and increased walking speed were found post-TENS. The lower M amplitude and higher H reflex amplitude, H/M maximum amplitude ratio, H slope, and H slope/M slope ratio on the spastic side were found to be statistically significant. [Conclusion] TENS application for hemiplegic patients with spastic lower extremities due to cerebrovascular disease resulted in marked improvement in clinical scales of spasticity and significant changes in the electrophysiological variables.

  13. The effect of upper extremity weight bearing on upper extremity function in children with hemiplegic type of cerebral palsy

    Directory of Open Access Journals (Sweden)

    P. Jayaraman

    2010-02-01

    Full Text Available The main objective of this study was to quantify the effects ofweight bearing on upper limb function in children with hemiplegic cerebralpalsy. This study also sought to monitor the change in spasticity immediatelyfollowing weight bearing exercises. A  quasi-experimental, one group pre-test,post-test design was used. Eleven children with hemiplegic type of cerebral palsyfrom a special school in KwaZulu Natal participated after fully informed consentof the caretaking guardian. The intervention consisted of a standardized programof weight bearing. The Melbourne A ssessment of Upper Extremity function wasused to quantify upper extremity function of reach, grasp and manipulation and the modified A shworth grading of spasticity was used to grade and monitor spasticity. The data was analysed using the Wilcoxon signed rank test.  A  significant decrease in spasticity during elbow extension (p= 0,004, wrist flexion (p=0,026 and extension (p=0,004was noted. Statistically significant improvement in function, reach (p=0, 00, grasp (p=0, 02 manipulation (p=0, 05and overall quality of function (p= 0,003 was also found. A n overall significant effect of weight bearing exercises onupper extremity function was noted providing evidence for practice.

  14. Learning about Familial Hypercholesterolemia

    Science.gov (United States)

    ... genetic terms used on this page Learning About Familial Hypercholesterolemia What is familial hypercholesterolemia? What are the symptoms ... Hypercholesterolemia Additional Resources About Familial Hypercholesterolemia What is ... hypercholesterolemia is an inherited condition that causes ...

  15. WtsE, an AvrE-family type III effector protein of Pantoea stewartii subsp. stewartii, causes cell death in non-host plants.

    Science.gov (United States)

    Ham, Jong Hyun; Majerczak, Doris; Ewert, Sophie; Sreerekha, Mysore-Venkatarau; Mackey, David; Coplin, David

    2008-09-01

    Pantoea stewartii subsp. stewartii (Pnss) causes Stewart's bacterial wilt of sweet corn and leaf blight of maize. The pathogenicity of Pnss depends on synthesis of extracellular polysaccharide and an Hrp type III secretion system. WtsE, a type III secreted effector protein, is essential for the virulence of Pnss on corn. It belongs to the AvrE family of effectors, which includes DspA/E from Erwinia amylovora and AvrE1 from Pseudomonas syringae. Previously, WtsE was shown to cause disease-associated cell death in its host plant, sweet corn. Here, we examine the biological activity of WtsE in several non-host plants. WtsE induced cell death in Nicotiana benthamiana, tobacco, beet and Arabidopsis thaliana when it was transiently produced in plant cells following agroinfiltration or translocated into plant cells from Pnss, Escherichia coli or Pseudomonas syringae pv. phaseolicola (Pph). WtsE-induced cell death in N. benthamiana, tobacco and beet resembled a hypersensitive response and in N. benthamiana it was delayed by cycloheximide. Interestingly, WtsE strongly promoted the growth of Pnss in N. benthamiana prior to the onset of cell death. Deletion derivatives of WtsE that failed to induce cell death in N. benthamiana and tobacco also did not complement wtsE mutants of Pnss for virulence in sweet corn, indicating a correlation between the two activities. WtsE also induced cell death in A. thaliana, where it suppressed basal defences induced by Pph. Thus, WtsE has growth-promoting, defence-suppressing and cell death-inducing activities in non-host plants. Expression of WtsE also prevented the growth of yeast, possibly due to an innate toxicity to eukaryotic cells. PMID:19018993

  16. Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum

    Directory of Open Access Journals (Sweden)

    Thea Bismo Strøm

    2014-01-01

    Full Text Available More than 1700 mutations in the low density lipoprotein receptor (LDLR gene have been found to cause familial hypercholesterolemia (FH. These are commonly divided into five classes based upon their effects on the structure and function of the LDLR. However, little is known about the mechanism by which mutations in the transmembrane domain of the LDLR gene cause FH. We have studied how the transmembrane mutation G805R affects the function of the LDLR. Based upon Western blot analyses of transfected HepG2 cells, mutation G805R reduced the amounts of the 120 kDa precursor LDLR in the endoplasmic reticulum. This led to reduced amounts of the mature 160 kDa LDLR at the cell surface. However, significant amounts of a secreted 140 kDa G805R-LDLR ectodomain fragment was observed in the culture media. Treatment of the cells with the metalloproteinase inhibitor batimastat largely restored the amounts of the 120 and 160 kDa forms in cell lysates, and prevented secretion of the 140 kDa ectodomain fragment. Together, these data indicate that a metalloproteinase cleaved the ectodomain of the 120 kDa precursor G805R-LDLR in the endoplasmic reticulum. It was the presence of the polar Arg805 and not the lack of Gly805 which led to ectodomain cleavage. Arg805 also prevented γ-secretase cleavage within the transmembrane domain. It is conceivable that introducing a charged residue within the hydrophobic membrane lipid bilayer, results in less efficient incorporation of the 120 kDa G805R-LDLR in the endoplasmic reticulum membrane and makes it a substrate for metalloproteinase cleavage.

  17. Stress hormone corticosterone enhances susceptibility to cortical spreading depression in familial hemiplegic migraine type 1 mutant mice

    NARCIS (Netherlands)

    Shyti, Reinald; Eikermann-Haerter, Katharina; van Heiningen, Sandra H.; Meijer, Onno C.; Ayata, Cenk; Joëls, Marian; Ferrari, Michel D.; van den Maagdenberg, Arn M J M; Tolner, Else A.

    2015-01-01

    Stress is a putative migraine trigger, but the pathogenic mechanisms involved are unknown. Stress and stress hormones increase neuronal excitability by enhancing glutamatergic neurotransmission, but inhibitory effects have also been reported. We hypothesise that an acute rise in stress hormones, suc

  18. 脑卒中偏瘫患者自我感受负担及影响因素分析%Self-perceived burden of post-stroke hemiplegic patients and its influencing factors

    Institute of Scientific and Technical Information of China (English)

    邹小琼; 许少英; 余田桂; 李瑞金

    2016-01-01

    目的:调查脑卒中偏瘫患者自我感受负担(self perceived burden ,SPB)水平,分析其影响因素。方法采用一般资料问卷、自我感受负担量表、心理弹性量表和中文版照顾者负担量表对130例脑卒中偏瘫患者及其主要照顾者进行问卷调查。结果患者的 SPB 得分为(37.75±6.30)分,其中91.54%的患者存在不同程度的 SPB 。 Pearson 分析结果显示,心理弹性与 SPB 呈负相关(r =-0.431,P =0.007),照顾者负担与 SPB 呈正相关(r =0.509,P =0.001)。回归分析显示:家庭经济负担、患病时间、心理弹性、照顾者负担是患者 SPB 的影响因素。结论 SPB 在脑卒中偏瘫患者中具有普遍存在性,护理人员应做好相关评估及采取针对性的措施减轻患者的 SPB 。%Objective To investigate the self-perceived burden (SPB) in hemiplegic patients after stroke and analyze its influencing factors .Methods Totally 130 post-stroke hemiplegic patients and their primary caregivers were investigated using self-designed demographic questionnaire ,self-perceived burden scale (SPBS) ,connor-davidson resilience scale (CD-RISC) and Chinese version of caregiver burden inventory (CBI) . Results The average SPB score was (37 .75 ± 6 .30 ) , and 91 .54% of the patients showed different level of SPB . Pearson analysis showed that mental resilience was negatively correlated to SPB (r = - 0 .431 ,P = 0 .007) ,but the burden of caregivers was positively related to SPB(r = 0 .509 ,P = 0 .001) .Multiple regression analysis found that family economic burden ,time of illness ,resilience and caregiver burden were the influencing factors of SPB .Conclusion SPB is common among hemiplegic patients after stroke .Nurses should evaluate the influencing factors of SPB among the patients and take targeted measures to alleviate it .

  19. 卒中单元康复护理对脑卒中偏瘫患者早期康复的影响%Effect of unit rehabilitation nursing on early rehabilitation of hemiplegic patients with cerebral apoplexy

    Institute of Scientific and Technical Information of China (English)

    何玉丽; 周鹏; 黄治林; 郑娟霞

    2011-01-01

    Objective To investigate the effect unit rehabjlitation nursing on the early rehabilitation of hemiplegic patients with cerebral apoplexy.Methods 125 hemiplegic patients with cerebral apoplexy were selected as the intervention group and anther 125 patients with the same conditions as the control group.In the intervention group, the patients were managed with unit rehabilitation nursing plus acupuncture therapy and the controls with routine nursing.The two groups were compared on day 45 in terms of FM, AS, BI, SDS and their family's satisfaclion with nursing.Results The intervcntion group was scored significantly lower than the control group in terms of FM, AS, BI (P < 0.05) , indicating the patients in the fonner rehabilitated significajitly better than those in the latter.The SDS score in the intervention group was significantly lower than that in the control (P < 0.05) .The satisfaction level in the former was higher than that in the control significantly (P < 0.05 ).Conclusion The umt rehabilitation nursing plus acupuncture and moxihustion therapy may he effective in promoting the early rehabilitation of hemiplegic patients with cerebral apoplexy and improve the nurse-patient relationship, worth clinical popularization.%目的 探讨卒中单元康复训练护理干预对脑卒中偏瘫患者早期康复的影响.方法 按1:1匹配的方法,选择对照组与观察组住院的脑卒中偏瘫患者各125例,对照组给予常规康复护理,观察组给予卒中单元康复护理及针灸疗法.比较两组患者干预45 d后肢体运动功能(fugl-meyer,FM)、神经功能缺损(assess scale of clinical neurologic deficit,AS)、日常生活活动能力(banhel index,BI)、抑郁水平(self-rating depress scale,SDS)以及患者和家属对护理工作的满意度.结果 在FM、AS、BI评分方面,观察组恢复情况均明显优于对照组;SDS得分明显低于对照组;在满意度方面观察组明显优于对照组,组间比较,均P<0.01,差异

  20. Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality.

    Directory of Open Access Journals (Sweden)

    Paula Dietrich

    Full Text Available Familial Dysautonomia (FD is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population, and leads to death before the age of 40. The disease is characterized by abnormal development and progressive degeneration of the sensory and autonomic nervous system. A single base pair substitution in intron 20 of the Ikbkap gene accounts for 98% of FD cases, and results in the expression of low levels of the full-length mRNA with simultaneous expression of an aberrantly spliced mRNA in which exon 20 is missing. To date, there is no animal model for the disease, and the essential cellular functions of IKAP--the protein encoded by Ikbkap--remain unknown. To better understand the normal function of IKAP and in an effort to generate a mouse model for FD, we have targeted the mouse Ikbkap gene by homologous recombination. We created two distinct alleles that result in either loss of Ikbkap expression, or expression of an mRNA lacking only exon 20. Homozygosity for either mutation leads to developmental delay, cardiovascular and brain malformations, accompanied with early embryonic lethality. Our analyses indicate that IKAP is essential for expression of specific genes involved in cardiac morphogenesis, and that cardiac failure is the likely cause of abnormal vascular development and embryonic lethality. Our results also indicate that deletion of exon 20 abolishes gene function. This implies that the truncated IKAP protein expressed in FD patients does not retain any significant biological function.

  1. Detection of a novel mutation Y468X in exon 10 of the low-density lipoprotein receptor gene causing heterozygous familial hypercholesterolemia among French Canadians

    Energy Technology Data Exchange (ETDEWEB)

    Couture, P.; Simard, J.; Moorjani, S. [Laval Univ., Quebec (Canada)

    1994-09-01

    Familial hypercholesterolemia (FH) is caused by mutations in the low-density lipoprotein (LDL) receptor gene and characterized by raised plasma LDL-cholesterol (C) and premature coronary heart disease. FH has higher frequency among French Canadians (FC) in northeastern Quebec than in most other populations, 1:154 vs. 1:500. In FC, five mutations account for all the mutant alleles in homozygous FH and 81% in heterozygous FH; thus 19% are uncharacterized at the molecular level. We investigated the possibility of additional mutations(s), and direct sequencing of asymmetric PCR fragments showed a novel mutation (468 stop-codon) in the heterozygous form in exon 10 of the LDL receptor gene. This mutation results from cytosine to guanine transversion, converting codon 468 (TAC) encoding tyrosine into TAG stop-codon (Y468X). This nonsense mutation will result in a truncated protein shortened by 371 amino acids which will be rapidly degraded. However, we did not ascertain the functional aspects. We rather assessed its effects on the extent of elevation of LDL-C in heterozygous FH children. The Y468X mutation resulted in raised LDL-C levels which were comparable to subjects with a non-functional `null` allele due to deletion of the promoter region and exon 1 (237{plus_minus}49 vs. 248 {plus_minus}41 mg/dl; mean{plus_minus}SD, p<0.05). The relative frequency of the Y468X mutation in a cohort of 343 children suspected for FH is 4.1% and it ranks number 4 in term of its prevalence. High frequency of FH among FC is attributed to a founder effect due to a high prevalence of one mutation; it is suggested that this novel mutation with low prevalence may be of later entry in this population.

  2. A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).

    Science.gov (United States)

    Gorvin, Caroline M; Cranston, Treena; Hannan, Fadil M; Rust, Nigel; Qureshi, Asjid; Nesbit, M Andrew; Thakker, Rajesh V

    2016-06-01

    Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous disorder with three variants, FHH1 to FHH3. FHH1 is caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), a G-protein coupled receptor that predominantly signals via G-protein subunit alpha-11 (Gα11 ) to regulate calcium homeostasis. FHH2 is the result of loss-of-function mutations in Gα11 , encoded by GNA11, and to date only two FHH2-associated Gα11 missense mutations (Leu135Gln and Ile200del) have been reported. FHH3 is the result of loss-of-function mutations of the adaptor protein-2 σ-subunit (AP2σ), which plays a pivotal role in clathrin-mediated endocytosis. We describe a 65-year-old woman who had hypercalcemia with normal circulating parathyroid hormone concentrations and hypocalciuria, features consistent with FHH, but she did not have CaSR and AP2σ mutations. Mutational analysis of the GNA11 gene was therefore undertaken, using leucocyte DNA, and this identified a novel heterozygous GNA11 mutation (c.161C>T; p.Thr54Met). The effect of the Gα11 variant was assessed by homology modeling of the related Gαq protein and by measuring the CaSR-mediated intracellular calcium (Ca(2+) i ) responses of HEK293 cells, stably expressing CaSR, to alterations in extracellular calcium (Ca(2+) o ) using flow cytometry. Three-dimensional modeling revealed the Thr54Met mutation to be located at the interface between the Gα11 helical and GTPase domains, and to likely impair GDP binding and interdomain interactions. Expression of wild-type and the mutant Gα11 in HEK293 cells stably expressing CaSR demonstrate that the Ca(2+) i responses after stimulation with Ca(2+) o of the mutant Met54 Gα11 led to a rightward shift of the concentration-response curve with a significantly (p < 0.01) increased mean half-maximal concentration (EC50 ) value of 3.88 mM (95% confidence interval [CI] 3.76-4.01 mM), when compared with the wild-type EC50 of 2.94 mM (95% CI 2.81-3.07

  3. Interrater reliability of the Melbourne Assessment of Unilateral Upper Limb Function for children with hemiplegic cerebral palsy.

    LENUS (Irish Health Repository)

    Spirtos, Michelle

    2012-02-01

    OBJECTIVE: We examined the interrater reliability of the Melbourne Assessment of Unilateral Upper Limb Function. METHOD: Three occupational therapists independently scored 34 videotaped assessments of children with hemiplegic cerebral palsy aged 6 yr, 1 mo, to 14 yr, 5 mo. Intraclass correlation coefficients (ICCs) at a 95% confidence interval were calculated for total scores, category scores, and item scores. RESULTS: The correlation between raters\\' total scores was high (ICC = .961). The highest correlation for test components between raters was found for fluency (ICC = .902), followed by range of movement (ICC = .866), and the lowest correlation was found for quality of movement (ICC = .683). The ICCs for individual test item scores varied and ranged from .368 to .899. CONCLUSION: This study demonstrated high interrater reliability for total scores, with scoring of some individual components and items requiring further consideration from both a clinical and a research perspective.

  4. A novel functional electrical stimulation-control system for restoring motor function of post-stroke hemiplegic patients

    Institute of Scientific and Technical Information of China (English)

    Zonghao Huang; Zhigong Wang; Xiaoying Lv; Yuxuan Zhou; Haipeng Wang; Sihao Zong

    2014-01-01

    Hemiparesis is one of the most common consequences of stroke. Advanced rehabilitation tech-niques are essential for restoring motor function in hemiplegic patients. Functional electrical stimulation applied to the affected limb based on myoelectric signal from the unaffected limb is a promising therapy for hemiplegia. In this study, we developed a prototype system for evaluating this novel functional electrical stimulation-control strategy. Based on surface electromyography and a vector machine model, a self-administered, multi-movement, force-modulation functional electrical stimulation-prototype system for hemiplegia was implemented. This paper discusses the hardware design, the algorithm of the system, and key points of the self-oscillation-prone system. The experimental results demonstrate the feasibility of the prototype system for further clinical trials, which is being conducted to evaluate the efifcacy of the proposed rehabilitation technique.

  5. Evolution of surface motor activation zones in hemiplegic patients during 20 sessions of FES therapy with multi-pad electrodes

    Directory of Open Access Journals (Sweden)

    Jovana Malešević

    2016-06-01

    Full Text Available The purpose of this study was to examine surface motor activation zones for wrist, fingers and thumb extension movements and their temporal change during 20 therapy sessions using advanced multi-pad functional electrical stimulation system. Results from four hemiplegic patients indicate that certain zones have higher probability of eliciting each of the target movements. However, mutual overlap and variations of the zones are present not just between the subjects, but also on the intrasubject level, reflected through these session to session transformations of the selected virtual electrodes. The obtained results could be used as a priori knowledge for semi-automated optimization algorithm and could shorten the time required for calibration of the multi-pad electrode.

  6. Side-to-side growth discrepancies in children with hemiplegic cerebral palsy: association with function, activity and social participation

    Directory of Open Access Journals (Sweden)

    Marise Bueno Zonta

    2014-05-01

    Full Text Available Objective: Evaluate side-to-side discrepancies in children with hemiplegic cerebral palsy (HCP, and investigate associations of these discrepancies with patients’ age at initiation of physical therapy, motor and cognitive function, and degree of activities and social participation. Method: We obtained eight side-to-side measurements from 24 HCP children with mean age 49.3±5.2 months. Results: Early initiation of physical therapy was associated with lower discrepancy in hand length (p=0.037. Lower foot length discrepancy was associated with lower requirement for caregiver assistance in activities related to mobility. Increased side-to-side discrepancy was associated with reduced wrist extension and increased spasticity. Discrepancy played a larger role in children with hemineglect and in those with right involvement. Conclusion: Increased discrepancy in HCP children was associated with reduced degree of activity/social participation. These results suggest an association between functional use of the extremities and limb growth.

  7. A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans

    DEFF Research Database (Denmark)

    Stattin, Eva-Lena; Wiklund, Fredrik; Lindblom, Karin;

    2010-01-01

    Osteochondritis dissecans is a disorder in which fragments of articular cartilage and subchondral bone dislodge from the joint surface. We analyzed a five-generation family in which affected members had autosomal-dominant familial osteochondritis dissecans. A genome-wide linkage analysis identifi...

  8. "An Investigation Into The Interrater Reliability Of The Modified Ashworth Scale In The Assessment Of Muscle Spasticity In Hemiplegic Patients "

    Directory of Open Access Journals (Sweden)

    N. Nokhostin-Ansari

    2006-06-01

    Full Text Available Background and Aim: Spasticity is a velocity-dependent increase in tonic stretch reflexes (muscle tone with exaggerated tendon jerks, resulting from hyperexcitability of the stretch reflex. The measurement of spasticity is necessary to determine the effect of treatments. The Modified Ashworth Scale is the most widely used method for assessing muscle spasticity in clinical practice and research. The purpose of this study was to investigate the interrater reliability of Modified Ashworth Scale in hemiplegic patients. Materials and Methods: Thirty subjects (16 males, 14 females with a mean age of 59.40 (SD =14.013 recruited. Shoulder adductor , elbow flexor , wrist dorsiflexor , hip adductor , knee extensor and ankle plantarflexor on the hemiplegic side were tested by two physiotherapists. Results: In the upper limb, the interrater reliability for shoulder adductor and elbow flexor muscles was fair (0.372 and 0.369, respectively. The reliability for the wrist flexors was good (0.612. The difference in Kappa value for the proximal muscle (shoulder adductor; 0.372 and the distal muscle (wrist flexor; 0.612 was significant (²X=33.87, df=1, p0.05. The mean value for the upper limb (0.505 and the lower limb (0,.516 was not significantly different (²X=0.1407, df=1, p>0.05. Conclusion: The interrater reliability of Modified Ashworth Scale was not good . The limb, upper or lower, had no significant effect on the reliability. In the upper limb, the reliability for the proximal and distal muscle was significantly different. However. The difference in the lower limb was not significant.When using the scale, one should consider it's limitation.

  9. Familial breast cancer.

    OpenAIRE

    Phipps, R. F.; Perry, P M

    1988-01-01

    Familial breast cancer is important because of all the known risk factors associated with developing the disease. The one with the most predictability is a positive family history. It is also important because a family history causes anxiety in the families concerned, and young women will often ask their chance of developing the disease. This form of breast cancer accounts for 10% of causes and has factors that distinguish it from the sporadic variety. Relatives of familial breast cancer pati...

  10. Effects of the Lifting Manipulation of Scalp Acupuncture for Raising Myodynamia of the Affected Limbs in Hemiplegic Patients Due to Cerebral Thrombosis

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    Objective: To provide a new therapy with definite quality controllable therapeutic effects for functional restoration of the affected limbs in hemiplegic patients due to cerebral thrombosis. Method: 180 patients with hemiplegia due to cerebral thrombosis were randomly divided into 2 groups: the treatment group (treated with scalp acupuncture by using the lifting manipulation) and the control group (treated with scalp acupuncture by using the twirling manipulation). Evaluations were given for the two groups based on the improvement of myodynamia and comprehensive functions after the treatment. Results: Both groups showed increased myodynamia, but with different cured and much relieved rates (86.67% in the treatment group and 5% in the control group, P<0.01). Conclusion: Scalp acupuncture with the lifting manipulation can dramatically increase myodynamia of the affected limbs in hemiplegic patients due to cerebral thrombosis.

  11. Maintained Hand Function and Forearm Bone Health 14 Months After an In-Home Virtual-Reality Videogame Hand Telerehabilitation Intervention in an Adolescent With Hemiplegic Cerebral Palsy

    OpenAIRE

    Golomb, Meredith R.; Warden, Stuart J.; Fess, Elaine; Rabin, Bryan; Yonkman, Janell; Shirley, Bridget; Burdea, Grigore C.

    2011-01-01

    Virtual reality videogames can be used to motivate rehabilitation, and telerehabilitation can be used to improve access to rehabilitation. These uses of technology to improve health outcomes are a burgeoning area of rehabilitation research. So far, there is a lack of reports of long-term outcomes of these types of interventions. The authors report a 15-year-old boy with hemiplegic cerebral palsy and epilepsy because of presumed perinatal stroke who improved his plegic hand function and increa...

  12. Muscle Recruitment and Coordination following Constraint-Induced Movement Therapy with Electrical Stimulation on Children with Hemiplegic Cerebral Palsy: A Randomized Controlled Trial

    OpenAIRE

    Xu, Kaishou; He, Lu; Mai, Jianning; Yan, Xiaohua; Chen, Ying

    2015-01-01

    Objective To investigate changes of muscle recruitment and coordination following constraint-induced movement therapy, constraint-induced movement therapy plus electrical stimulation, and traditional occupational therapy in treating hand dysfunction. Methods In a randomized, single-blind, controlled trial, children with hemiplegic cerebral palsy were randomly assigned to receive constraint-induced movement therapy (n = 22), constraint-induced movement therapy plus electrical stimulation (n = ...

  13. Modified Constraint-Induced Therapy for Children with Hemiplegic Cerebral Palsy: A Randomized Trial

    Science.gov (United States)

    Wallen, Margaret; Ziviani, Jenny; Naylor, Olivia; Evans, Ruth; Novak, Iona; Herbert, Robert D.

    2011-01-01

    Aim: Conventional constraint-based therapies are intensive and demanding to implement, particularly for children. Modified forms of constraint-based therapies that are family-centred may be more acceptable and feasible for families of children with cerebral palsy (CP)-but require rigorous evaluation using randomized trials. The aim of this study…

  14. Clinical Features and Genetic Analysis of Tuberous Sclerosis Complex in a Chinese Family Caused by c.2677-2678del Mutation on TSC2 Gene

    Institute of Scientific and Technical Information of China (English)

    KE Lai-shun; JIANG Hua; QU Xiu-xiu; ZHENG De-quan; WU Xin-yu; LU Wu-sheng

    2016-01-01

    The clinical data of patients from a Chinese family with tuberous sclerosis complex (TSC) were collected and the gene mutation type of TSC2 of proband in pedigree one was determined by polymerase chain reaction (PCR) and direct genes sequencing. There were 2 cases with TSC in the family, both of whom had facial angioifbromas, one case with ungual ifbromas, the other with mental retardation. The MRI and CT showed multiple intracranial nodules together. What’s more, gene mutation analysis of TSC2 demonstrated the c.2677-2678del mutation in both and the genetic manner deduced with autosomal dominant inheritance.

  15. Sensory changes,C-and A-fiber function,and shoulder-hand syndrome in hemiplegic patients after stroke

    Institute of Scientific and Technical Information of China (English)

    Yi Yuan; Xiaohong Zi; Xian Huang

    2008-01-01

    BACKGROUND:Clinical diagnosis of various neurological disorders involving the sensory nerves depends primarily on subjective description.which cannot be quantitatively evaluated,and is also less reproducible and specific.Quantitative sensory testing mcthods can overcome these shortcomings and is currently used to identify the function of the C-and A-fibers.OBJECTIVE:To apply the quantitative sensory testing method for analyzing changes in temperature sensation,cryalgesia,thermalgesia,and vibration sense on the skin surface of hemiplegic patients with post-stroke shoulder-hand syndrome,and to analyze the relationship between these changes and shoulder-hand syndrome.DESIGN,TIME AND SETTING:A non-randomized,concurrent,control study was performed at the Clinic and Inpatient Department of the Third Xiangya Hospital,Central South University,between June 2000 and April 2001.PARTICIPANTS:Thirty post-stroke,hemiplegic patients were divided into shoulder-hand syndrome and control groups,according to whether patients exhibited shoulder-hand syndrome,with 15 patients in each group.METHODS:A TSA2001 quantitative sensory testing device(Medoc,Israel)was used for quantitative sensory testing.All sensory testing employed limits,testing temperature sense on the palm thenar eminence and vibration sense on the thumb metacarpal.Cold threshold was≤28℃.warmth threshold was≥36℃,cold-evoked pain threshold was≤5℃.heat-evoked pain threshold was≥51℃,vibration threshold was≥5 μ m/s;if a patient met one of these items,he/she was considered to be hypoanesthesia.MAIN OUTCOME MEASURES:Cold,warm,cold-evoked pain,heat-evoked pain and vibration threshold changes on skin from the paralyzed upper extremity was measured in the shoulder-hand syndrome and control groups.RESULTS:Incidence of sensory disability in the shoulder-hand syndrome group increased more significantly than in the control group(P<0.05),with the primary manifestations being decreased cold threshold(P<0.05)and

  16. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.

    Science.gov (United States)

    Reinson, Karit; Õiglane-Shlik, Eve; Talvik, Inga; Vaher, Ulvi; Õunapuu, Anne; Ennok, Margus; Teek, Rita; Pajusalu, Sander; Murumets, Ülle; Tomberg, Tiiu; Puusepp, Sanna; Piirsoo, Andres; Reimand, Tiia; Õunap, Katrin

    2016-08-01

    The CACNA1A gene encodes the transmembrane pore-forming alpha-1A subunit of the Cav 2.1 P/Q-type voltage-gated calcium channel. Several heterozygous mutations within this gene, including nonsense mutations, missense mutations, and expansion of cytosine-adenine-guanine repeats, are known to cause three allelic autosomal dominant conditions-episodic ataxia type 2, familial hemiplegic migraine type 1, and spinocerebellar ataxia type 6. An association with epilepsy and CACNA1A mutations has also been described. However, the link with epileptic encephalopathies has emerged only recently. Here we describe two patients, sister and brother, with compound heterozygous mutations in CACNA1A. Exome sequencing detected biallelic mutations in CACNA1A: A missense mutation c.4315T>A (p.Trp1439Arg) in exon 27, and a seven base pair deletion c.472_478delGCCTTCC (p.Ala158Thrfs*6) in exon 3. Both patients were normal at birth, but developed daily recurrent seizures in early infancy with concomitant extreme muscular hypotonia, hypokinesia, and global developmental delay. The brain MRI images showed progressive cerebral, cerebellar, and optic nerve atrophy. At the age of 5, both patients were blind and bedridden with a profound developmental delay. The elder sister died at that age. Their parents and two siblings were heterozygotes for one of those pathogenic mutations and expressed a milder phenotype. Both of them have intellectual disability and in addition the mother has adult onset cerebellar ataxia with a slowly progressive cerebellar atrophy. Compound heterozygous mutations in the CACNA1A gene presumably cause early onset epileptic encephalopathy, and progressive cerebral, cerebellar and optic nerve atrophy with reduced lifespan. © 2016 Wiley Periodicals, Inc. PMID:27250579

  17. A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family

    DEFF Research Database (Denmark)

    Xiao, Cuiying; Zhang, Sizhong; Wang, Jun;

    2003-01-01

    sequencing, a previously unreported deletion of T in exon 5 of SEDL gene (i.e. 293delT) was observed and seven individuals in the family carried the mutation. It results in frameshift and a putative truncated protein with the 97 N-terminal amino acids, and 9 changed amino acids. Therefore, loss of function...

  18. Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.

    NARCIS (Netherlands)

    Defesche, J.C.; Schuurman, E.J.M.; Klaaijsen, L.N.; Khoo, K.L.; Wiegman, A.; Stalenhoef, A.F.H.

    2008-01-01

    In a large group of patients with the clinical phenotype of familial hypercholesterolemia, such as elevated low-density lipoprotein (LDL) cholesterol and premature atherosclerosis, but without functional mutations in the genes coding for the LDL receptor and apolipoprotein B, we examined the effect

  19. Upper limb children action-observation training (UP-CAT: a randomised controlled trial in Hemiplegic Cerebral Palsy

    Directory of Open Access Journals (Sweden)

    Biagi Laura

    2011-06-01

    Full Text Available Abstract Background Rehabilitation for children with hemiplegic cerebral palsy (HCP aimed to improve function of the impaired upper limb (UL uses a wide range of intervention programs. A new rehabilitative approach, called Action-Observation Therapy, based on the recent discovery of mirror neurons, has been used in adult stroke but not in children. The purpose of the present study is to design a randomised controlled trial (RCT for evaluating the efficacy of Action-Observation Therapy in improving UL activity in children with HCP. Methods/Design The trial is designed according to CONSORT Statement. It is a randomised, evaluator-blinded, match-pair group trial. Children with HCP will be randomised within pairs to either experimental or control group. The experimental group will perform an Action-Observation Therapy, called UP-CAT (Upper Limb-Children Action-Observation Training in which they will watch video sequences showing goal-directed actions, chosen according to children UL functional level, combined with motor training with their hemiplegic UL. The control group will perform the same tailored actions after watching computer games. A careful revision of psychometric properties of UL outcome measures for children with hemiplegia was performed. Assisting Hand Assessment was chosen as primary measure and, based on its calculation power, a sample size of 12 matched pairs was established. Moreover, Melbourne and ABILHAND-Kids were included as secondary measures. The time line of assessments will be T0 (in the week preceding the onset of the treatment, T1 and T2 (in the week after the end of the treatment and 8 weeks later, respectively. A further assessment will be performed at T3 (24 weeks after T1, to evaluate the retention of effects. In a subgroup of children enrolled in both groups functional Magnetic Resonance Imaging, exploring the mirror system and sensory-motor function, will be performed at T0, T1 and T2. Discussion The paper aims to

  20. The family – care sponsor of patients suffering from cerebrovascular accidents

    Directory of Open Access Journals (Sweden)

    Ourania Govina

    2007-07-01

    Full Text Available The purpose of this bibliographical review is to show the role of the family in the application of care of a patient suffering from a cerebrovascular accident (CVA. CVA's are, second to arthritis, one of the most impairing illnesses in terms of ability that creates the need for training the patient on a new basis and giving the family information on new roles. One of the dimensions of holistic family care is the increased support the patient receives from family care givers. Studies and clinical research both show that informing families on care giver roles is inadequate or non‐existent. Adequate training of nurses to prepare care givers via specialized programs stimulates the family to respond to the new challenge and take on roles that are multidimensional and complicated. It is important that family care givers of people with CVA's are given new information and taught new skills in order for these patients to maximize their own self‐care potential. CVA patients, following the acute phase of their illness and rehabilitation in specialized centers are nursed at home, mainly by their families with the help of healthcare services. Usually, the responsibilities the family takes on are mainly those of self‐care needs of the patient and his motivation, so that he will organize and carry out basic life activities via learning new ways to face everyday life, always within his impaired abilities. Care guidance is a most important nursing intervention so that activities of daily living problems can be addressed. The interventions are tailored according to the care givers' educational level and the patients' needs. CONCLUSIONS The most important findings of the study are: Patients with cerebrovascular accidents have impaired ability concerning mobility, communication and socialization and need special attention and education in order to improve daily life activities. The education of hemiplegic patients with informative intervention, awareness and

  1. A family with hereditary diffuse leukoencephalopathy with spheroids caused by a novel c.2442+2T>C mutation in the CSF1R gene.

    Science.gov (United States)

    Kawakami, Ito; Iseki, Eizo; Kasanuki, Koji; Minegishi, Michiko; Sato, Kiyoshi; Hino, Hiroyuki; Shibuya, Katsuhiko; Fujisawa, Kohshiro; Higashi, Shinji; Akiyama, Haruhiko; Furuta, Akiko; Takanashi, Masashi; Li, Yuanzhe; Hattori, Nobutaka; Mitsuyama, Yoshio; Arai, Heii

    2016-08-15

    Clinical phenotypes of hereditary diffuse leukoencephalopathy with spheroids (HDLS), a familial progressive neurodegenerative disorder affecting the white matter of the brain, are heterogenous and may include behavioral and personality changes, memory impairment, parkinsonism, seizure, and spasticity. Thus, HDLS is frequently unrecognized and misdiagnosed. Heterozygous mutations located within the kinase domain of the gene encoding the colony-stimulating factor 1 receptor (CSF1R), a cell surface receptor with key roles in development and innate immunity, have been shown in HDLS. These different gene mutations may be related to the various clinical phenotypes. We report here a newly identified family with HDLS harboring a mutation in the CSF1R gene. We examined clinical and neuropathological features in three members of this family. These patients presented with affective incontinence, memory impairment, and executive dysfunction at onset, and revealed nonfluent aphasia, parkinsonism, and seizure as the disease progressed. We identified a novel CSF1R splice site mutation (c.2442+2T>C) in intron 18 for two of the patients. MRI of these patients revealed progressive, frontotemporal-predominant, confluent leukoencephalopathy. We also observed severe myelin loss, axonal degeneration, and abundant axonal spheroids, astrocytes, and microglia in the cerebral white matter, consistent with HDLS neuropathological features. Additionally, we identified atypical neuropathological findings for HDLS, including neuronal loss and gliosis with ballooned neurons and central chromatolysis in the frontal cortex and hippocampus. This report provides further evidence for the clinical and neuropathological heterogeneity of HDLS. PMID:27423618

  2. Modeling the Step-like Response in the Upper Limbs of Hemiplegic Subjects for Evaluation of Spasticity

    Science.gov (United States)

    Uchiyama, Takanori; Uchida, Ryusei

    The purpose of this study is to develop a new modeling technique for quantitative evaluation of spasticity in the upper limbs of hemiplegic patients. Each subject lay on a bed, and his forearm was supported with a jig to measure the elbow joint angle. The subject was instructed to relax and not to resist the step-like load which was applied to extend the elbow joint. The elbow joint angle and electromyogram (EMG) of the biceps muscle, triceps muscle and brachioradialis muscle were measured. First, the step-like response was approximated with a proposed mathematical model based on musculoskeletal and physiological characteristics by the least square method. The proposed model involved an elastic component depending on both muscle activities and elbow joint angle. The responses were approximated well with the proposed model. Next, the torque generated by the elastic component was estimated. The normalized elastic torque was approximated with a dumped sinusoid by the least square method. The reciprocal of the time constant and the natural frequency of the normalized elastic torque were calculated and they varied depending on the grades of the modified Ashworth scale of the subjects. It was suggested that the proposed modeling technique would provide a good quantitative index of spasticity as shown in the relationship between the reciprocal of the time constant and the natural frequency.

  3. Efficacy of constraint-induced movement therapy and bimanual training in children with hemiplegic cerebral palsy in an educational setting.

    Science.gov (United States)

    Gelkop, Nava; Burshtein, Dikla Gol; Lahav, Anat; Brezner, Amichi; Al-Oraibi, Saleh; Ferre, Claudio L; Gordon, Andrew M

    2015-02-01

    We examined the efficacy of modified constraint-induced movement therapy (CIMT) and hand-arm bimanual intensive therapy (HABIT) in a special education preschool/kindergarten in Israel. Twelve children (1.5-7 years) with congenital hemiplegic cerebral palsy were randomized to receive modified CIMT (n = 6) or HABIT (n = 6). Occupational and physical therapists administered usual and customary care for 8 weeks; children then crossed over to receive CIMT or HABIT 2 hr/day, 6 days/week for 8 weeks from their occupational therapist. The Assisting Hand Assessment and Quality of Upper Extremity Skills Test were administered 2 months prior to the intervention, immediately before, immediately after intervention, and 6 months after the first baseline assessment. Both groups demonstrated no change during baseline and comparable improvement following CIMT and HABIT (p < .001), which was maintained at 6-month follow-up. Results suggest that modified CIMT and HABIT provided in school-based settings can lead to improvements in quality of bimanual skill and movement patterns.

  4. Familial combined hyperlipidemia

    Science.gov (United States)

    Multiple lipoprotein-type hyperlipidemia ... Familial combined hyperlipidemia is the most common genetic disorder that increases blood fats. It can cause early heart attacks. Diabetes , alcoholism, ...

  5. Does domestication cause changes in growth reaction norms? A study of farmed, wild and hybrid Atlantic salmon families exposed to environmental stress.

    Directory of Open Access Journals (Sweden)

    Monica Favnebøe Solberg

    Full Text Available One of the most important traits linked with the successful domestication of animals is reducing their sensitivity to environmental stressors in the human controlled environment. In order to examine whether domestication selection in Atlantic salmon Salmo salar L., over approximately ten generations, has inadvertently selected for reduced responsiveness to stress, we compared the growth reaction norms of 29 wild, hybrid and domesticated families reared together under standard hatchery conditions (control and in the presence of a stressor (reduced water level twice daily. The experiment was conducted for a 14 week period. Farmed salmon outgrew wild salmon 1:2.93 in the control tanks, and no overlap in mean weight was displayed between families representing the three groups. Thus, the elevation of the reaction norms differed among the groups. Overall, growth was approximately 25% lower in the stressed tanksl; however, farmed salmon outgrew wild salmon 1:3.42 under these conditions. That farmed salmon maintained a relatively higher growth rate than the wild salmon in the stressed tanks demonstrates a lower responsiveness to stress in the farmed salmon. Thus, flatter reaction norm slopes were displayed in the farmed salmon, demonstrating reduced plasticity for this trait under these specific experimental conditions. For all growth measurements, hybrid salmon displayed intermediate values. Wild salmon displayed higher heritability estimates for body weight than the hybrid and farmed salmon in both environments. This suggests reduced genetic variation for body weight in the farmed contra wild salmon studied here. While these results may be linked to the specific families and stocks investigated, and verification in other stocks and traits is needed, these data are consistent with the theoretical predictions of domestication.

  6. An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D sub 3 -resistant rickets in three families

    Energy Technology Data Exchange (ETDEWEB)

    Ritchie, H.H.; Hughes, M.R.; Thompson, E.T.; Pike, J.W.; O' Malley, B.W. (Baylor College of Medicine, Houston, TX (USA)); Malloy, P.J.; Feldman, D. (Stanford Univ. School of Medicine, CA (USA)); Hochberg, Z. (Rambam Medical Center, Haifa (Israel))

    1989-12-01

    Hereditary 1,25-dihydroxyvitamin D{sub 3}-resistant rickets is a rare autosomal-recessive disease resulting from target-organ resistance to the action of the active hormonal form of vitamin D. Four affected children from three related families with the classical syndrome of hereditary 1,25-dihydroxyvitamin D{sub 3}-resistant rickets and the absence of detectable binding to the vitamin D receptor (VDR) in cultured fibroblasts or lymphoblasts were examined for genetic abnormalities in the VDR gene. Genomic DNA from Epstein-Barr virus-transformed lymphoblasts of eight family members was isolated and amplified by polymerase chain reaction techniques. Amplified fragments containing the eight structural exons encoding the VDR protein were sequenced. The DNA from all affected children exhibited a single C {yields} A base substitution within exon 7 at nucleotide 970. Although the affected children were all homozygotic for the mutation, the four parents tested all exhibited both wild-type and mutant alleles, indicating a heterozygous state. Recreated mutant receptor exhibited no specific 1,25-({sup 3}H)dihydroxyvitamin D{sub 3} binding and failed to activate a cotransfected VDR promoter-reporter gene construct. Thus these findings identify an ochre mutation in a human steroid hormone receptor in patients with hereditary 1,25-dihydroxyvitamin D{sub 3}-resistant rickets.

  7. An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families

    International Nuclear Information System (INIS)

    Hereditary 1,25-dihydroxyvitamin D3-resistant rickets is a rare autosomal-recessive disease resulting from target-organ resistance to the action of the active hormonal form of vitamin D. Four affected children from three related families with the classical syndrome of hereditary 1,25-dihydroxyvitamin D3-resistant rickets and the absence of detectable binding to the vitamin D receptor (VDR) in cultured fibroblasts or lymphoblasts were examined for genetic abnormalities in the VDR gene. Genomic DNA from Epstein-Barr virus-transformed lymphoblasts of eight family members was isolated and amplified by polymerase chain reaction techniques. Amplified fragments containing the eight structural exons encoding the VDR protein were sequenced. The DNA from all affected children exhibited a single C → A base substitution within exon 7 at nucleotide 970. Although the affected children were all homozygotic for the mutation, the four parents tested all exhibited both wild-type and mutant alleles, indicating a heterozygous state. Recreated mutant receptor exhibited no specific 1,25-[3H]dihydroxyvitamin D3 binding and failed to activate a cotransfected VDR promoter-reporter gene construct. Thus these findings identify an ochre mutation in a human steroid hormone receptor in patients with hereditary 1,25-dihydroxyvitamin D3-resistant rickets

  8. 1031-1034delTAAC (Leu125Stop: a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes

    Directory of Open Access Journals (Sweden)

    De Molfetta Greice Andreotti

    2012-12-01

    Full Text Available Abstract Background More than 50 mutations in the UBE3A gene (E6-AP ubiquitin protein ligase gene have been found in Angelman syndrome patients with no deletion, no uniparental disomy, and no imprinting defect. Case Presentation We here describe a novel UBE3A frameshift mutation in two siblings who have inherited it from their asymptomatic mother. Despite carrying the same UBE3A mutation, the proband shows a more severe phenotype whereas his sister shows a milder phenotype presenting the typical AS features. Conclusions We hypothesized that the mutation Leu125Stop causes both severe and milder phenotypes. Potential mechanisms include: i maybe the proband has an additional problem (genetic or environmental besides the UBE3A mutation; ii since the two siblings have different fathers, the UBE3A mutation is interacting with a different genetic variant in the proband that, by itself, does not cause problems but in combination with the UBE3A mutation causes the severe phenotype; iii this UBE3A mutation alone can cause either typical AS or the severe clinical picture seen in the proband.

  9. Expression of the Prion Protein Family Member Shadoo Causes Drug Hypersensitivity That Is Diminished by the Coexpression of the Wild Type Prion Protein.

    Science.gov (United States)

    Nyeste, Antal; Bencsura, Petra; Vida, István; Hegyi, Zoltán; Homolya, László; Fodor, Elfrieda; Welker, Ervin

    2016-02-26

    The prion protein (PrP) seems to exert both neuroprotective and neurotoxic activities. The toxic activities are associated with the C-terminal globular parts in the absence of the flexible N terminus, specifically the hydrophobic domain (HD) or the central region (CR). The wild type prion protein (PrP-WT), having an intact flexible part, exhibits neuroprotective qualities by virtue of diminishing many of the cytotoxic effects of these mutant prion proteins (PrPΔHD and PrPΔCR) when coexpressed. The prion protein family member Doppel, which possesses a three-dimensional fold similar to the C-terminal part of PrP, is also harmful to neuronal and other cells in various models, a phenotype that can also be eliminated by the coexpression of PrP-WT. In contrast, another prion protein family member, Shadoo (Sho), a natively disordered protein possessing structural features similar to the flexible N-terminal tail of PrP, exhibits PrP-WT-like protective properties. Here, we report that, contrary to expectations, Sho expression in SH-SY5Y or HEK293 cells induces the same toxic phenotype of drug hypersensitivity as PrPΔCR. This effect is exhibited in a dose-dependent manner and is also counteracted by the coexpression of PrP-WT. The opposing effects of Shadoo in different model systems revealed here may be explored to help discern the relationship of the various toxic activities of mutant PrPs with each other and the neurotoxic effects seen in neurodegenerative diseases, such as transmissible spongiform encephalopathy and Alzheimer disease.

  10. Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

    Science.gov (United States)

    Mancini, G M S; Catsman-Berrevoets, C E; de Coo, I F M; Aarsen, F K; Kamphoven, J H J; Huijmans, J G; Duran, M; van der Knaap, M S; Jakobs, C; Salomons, G S

    2005-01-30

    Four Dutch male patients, two brothers from unrelated families were referred for investigation of psychomotor and severe language/speech delay. All four patients showed growth deficiency over the years. Facial features and poor body habitus were quite similar in the patients and in their mothers. Brain MRI showed nonspecific periventricular white matter lesions. In all the patients neuropsychological tests revealed moderate mental retardation, attention deficit and hyperactivity with impulsivity, a semantic-pragmatic language disorder, and oral dyspraxia. This specific cognitive profile is different from other children with mental retardation syndromes and seems to be unique. Excretion of creatine to creatinine ratio in urine of the four boys was increased compared to controls and their creatine uptake in fibroblasts was deficient. In the two brothers from the first pedigree, DNA sequence analysis revealed a novel mutation in the splice donor site in intron 10 (IVS10 + 5G>C, c.1495 + 5G>C) of the SLC6A8 gene leading to skipping of exon 10. In the other sib pair a novel missense mutation (c. 1361C>T; p.Pro544Leu) was found. These are the first families reported, in which the clinical suspicion of a creatine transporter disorder was raised on clinical grounds, before a brain 1H-MRS suggested the diagnosis. Screening of apparently X-linked mental retarded patients with this somatic and behavioral phenotype by the biochemical assay of creatine to creatinine ratio in the urine or DNA sequence analysis of SLC6A8 is worthwhile even when 1H-MRS is not available. PMID:15690373

  11. 癌症患者家属疲乏感影响因素分析和预防%Analysis of the affecting factors to cause weariness and exhaustion of the families of cancer patients and prevention measures

    Institute of Scientific and Technical Information of China (English)

    马卫霞; 刘光英; 李小娜; 王功朝

    2011-01-01

    目的:探讨使癌症患者家属产生疲乏感的因素和预防措施.方法:采用一般资料调查表了解102例癌症患者家属的一般情况,采用疲乏评定量表(FAI)了解家属所符合的与疲乏感有关的描述,并通过调查分析使家属产生疲乏感的因素.结果:癌症患者家属普遍存在疲乏感,且具有情境特异性及较严重的心理后果;睡眠不足、负性情绪、担心患者预后和恢复情况、社会支持状况等是家属疲乏感的重要影响因素.结论:针对癌症患者家属普遍存在的疲乏感进行积极的预防,帮助其减轻心理负担,更好地配合对患者的护理.%Objective: To analyze the affecting factors to cause weariness and exhaustion of the families of cancer patients and explore prevention measures. Methods: The general information questionnaire and fatigue rating scale ( FAI ) were used to learn the general situation of the families of 102 cancer patients and their descriptions related to weariness and exhaustion conforming to the items in the scale and the affecting factors were analyzed. Results: Weariness and exhaustion commonly existed in the families of cancer patients and has a situational specificity. Such unhealthy psychological consequences as insomnia and negative emotion are very serious. What cause weariness and exhaustion of the families are that they worry about the social support status as well as prognosis and recovery of the patients. Conclusion: The active prevention measures against the factors to cause weariness and exhaustion can help the families reduce the psychological burden and cooperate with nurses better in patient care.

  12. Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis

    OpenAIRE

    Crozat, Karine; Hoebe, Kasper; Ugolini, Sophie; Hong, Nancy A.; Janssen, Edith; Rutschmann, Sophie; Mudd, Suzanne; Sovath, Sosathya; Vivier, Eric; Beutler, Bruce

    2007-01-01

    Mouse cytomegalovirus (MCMV) susceptibility often results from defects of natural killer (NK) cell function. Here we describe Jinx, an N-ethyl-N-nitrosourea–induced MCMV susceptibility mutation that permits unchecked proliferation of the virus, causing death. In Jinx homozygotes, activated NK cells and cytotoxic T lymphocytes (CTLs) fail to degranulate, although they retain the ability to produce cytokines, and cytokine levels are markedly elevated in the blood of infected mutant mice. Jinx w...

  13. An Educational Interventional Study to Assess Awareness about Mosquito Breeding, Diseases Caused and Protective Measures Against them among Families Residing in an Urban Slum of Indore City

    Directory of Open Access Journals (Sweden)

    Deepa Raghunath

    2013-08-01

    Full Text Available Background: Community participation plays an important role in control of Mosquito borne diseases. This study tries to assess impact of educational intervention on various aspects of mosquito borne diseases in an urban slum. Methodology: An educational interventional study was done in 200 families residing in a slum (Badi Gwaltoli which is in field practice area of Urban Health Centre attached to Department of Community Medicine of M.G.M.Medical College, Indore. A pretested semi-structured questionnaire was administered to the Head of the family which studied their awareness and perception regarding breeding sites and biting habits of mosquitoes, diseases spread by them and personal protective measures used, followed by an educational intervention and post assessment. Data was entered into Microsoft excel spread sheet and analysed using SPSS version 20 software. Results: 46% of study population knew the correct breeding season of mosquitoes (monsoon season during pre-intervention and 68% of the population post- intervention (p- value 0.004. When asked at what time mosquitoes bite the most, maximum number (92% of people said that mosquitoes bite most in the evening and night, while only 6% and 2% were for morning and noon, respectively. Only 3.5% of the population who knew about breeding sites knew about artificial collections of water. Majority said mosquito breed in dirty stagnant water (78.5%. About 96%of the study population was aware that mosquitoes spread diseases. However, only 33.3%of respondents knew correctly about the diseases spread which improved to 68% in the post-intervention period (p-value=.000. 46% knew all the protection measures against mosquitoes in the pre-intervention which increased to 86% in the post intervention (p.value-.005. Conclusion: Awareness about Aedes mosquitoes and its habits is quite poor and many people still believe that only dirty water serves as a breeding place in mosquitoes. Regular IEC sessions

  14. Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.

    Science.gov (United States)

    Shen, Wenjing; Han, Dong; Zhang, Jin; Zhao, Hongshan; Feng, Hailan

    2011-09-01

    Ellis-van Creveld syndrome (EvC, chondroectodermal dysplasia; OMIM 225500) is an autosomal recessive skeletal dysplasia with associated multisystem involvement. The syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, and abnormal teeth. Congenital heart defects occur in 50-60% of cases. In this study, we report EvC in a 6-year-old Chinese girl with hypodontia and polydactyly, mild short stature, and abnormalities of the knee joints. No signs of short ribs, narrow thorax, or congenital heart defects were found in this patient. The EvC phenotype shares some similarity with Weyers acrofacial dysostosis (Weyer; OMIM 193530), an autosomal dominant disorder clinically characterized by mild short stature, postaxial polydactyly, nail dystrophy, and dysplastic teeth. Mutations in EVC or EVC2 are associated with both EvC syndrome and Weyers acrodental dysostosis, but the two conditions differ in the severity of the phenotype and their pattern of inheritance. In this study, two novel heterozygous EVC2 mutations, IVS5-2A > G and c.2653C > T (Arg885X), were identified in the patient. The IVS5-2A > G mutation was inherited from the patient's mother and the c.2653C > T from her father. Her parents have no phenotypic symptoms similar to those of the patient. These findings extend the mutation spectrum of this malformation syndrome and provide the possibility of prenatal diagnosis for future offspring in this family.

  15. 强制性使用运动疗法作用于偏瘫上肢的研究进展%Research Progress in Constraint-induced Movement Therapy on Hemiplegic Upper Limb

    Institute of Scientific and Technical Information of China (English)

    易亮

    2014-01-01

    本文将总结强制性使用运动疗法作用于偏瘫上肢的研究进展,以供临床参考。%This paper summarizes the research progress in constraint-induced movement therapy on hemiplegic upper limb for clinical reference.

  16. The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys

    Science.gov (United States)

    Ernst, Anja; Le, Vang Q.; Højland, Allan T.; Pedersen, Inge S.; Sørensen, Tine H.; Bjerregaard, Lise L.; Lyngbye, Troels J.B.; Gammelager, Ninna M.; Krarup, Henrik; Petersen, Michael B.

    2015-01-01

    The family presented with 4 boys, 2 sets of brothers, with unexplained intellectual disability. Numerous analyses had been conducted over more than a decade, without reaching a final clinical or molecular diagnosis. According to the pedigree, an X-linked inheritance pattern was strongly suspected. Whole-exome sequencing (WES) with targeted analysis of the coding regions of the X chromosome was carried out in the 4 boys, their mothers, and their shared grandmother. A filtering process searching for nonsynonymous variants and variants in the exon-intron boundaries revealed one variant, c.1A>G; pM1V, in the first codon of the PHF6 gene. The variant was hemizygous in the 4 boys and heterozygous in the 2 mothers and the grandmother. Mutations in the PHF6 gene are known to cause Börjeson-Forsman-Lehmann syndrome (BFLS). The boys were reexamined after the finding of the mutation, and the phenotype fitted perfectly with BFLS. The mutation found in the PHF6 gene is causative for the intellectual disability in this family. We also conclude that WES of the X chromosome is a powerful tool in families where an X-linked inheritance pattern is suspected. PMID:26648834

  17. Discussing the Causes about of Small and Micro Businesses Choosing Family Management Mode%小微企业的家族管理模式及选择原因

    Institute of Scientific and Technical Information of China (English)

    朱莉

    2012-01-01

    小微企业在市场经济中具有重要的地位,并以强大的生命力和适应性赢得社会的关注,但是,小微企业也存在着生命周期短、融资瓶颈突出、升级转型慢等困难,显然这与小微企业采用的家族管理模式相关。从分析小微企业家族管理模式的特点入手,探讨小微企业选择家族管理模式的原因,进而对小微企业实现可持续发展提出相应的对策建议。%Small and micro businesses have an important position in the market economy. At the same time, they have won the attention because of the powerful vitality and applicability. However, for the exist there are also a lot af difficulties small and micro businesses, such as the short life cycle, the financing bottleneck, upgrade slow. Many scholars think that it relevant of family management mode. The paper analyzes the characteristic of family management mode, and discusses the causes about of small and micro businesses choosing family management mode, then gives the suggestion about of sustainable development to small and micro businesses.

  18. Las cuestiones familiares como causa de la violencia escolar según los padres Parents’ opinion on family matters as possible cause of school violence

    Directory of Open Access Journals (Sweden)

    Nazario Yuste

    2008-07-01

    Full Text Available

    Siendo los padres uno de los agentes fundamentales en el desarrollo, en muchos casos también son los responsables, junto con los maestros y la sociedad, de la aparición de conductas violentas en el sujeto. Por ello, el presente trabajo analiza la percepción de los padres (incluyendo en este término a los padres, las madres, el tutor o tutora, así como todo adulto que esté a cargo de un menor a cerca de aspectos familiares que pueden ser susceptibles de ser consideradas causa u origen de la violencia en los jóvenes y concretamente, de la violencia entre los escolares. La muestra está compuesta por un total de 414 sujetos padres/madres/tutores, con una edad comprendida entre los 23 y 60 años. Los resultados muestran que los padres destacan, como aspectos que más influyen en el origen o génesis de las conductas violentas en la escuela son: la escasa educación en el respeto a los demás y a las cosas; y la falta de educación en valores. Como elementos de menor influencia señalan: que ambos padres/tutores trabajen y la ausencia de incentivos por parte de los padres/tutores. Tanto hombres como mujeres, coinciden en considerar como menos influyente, el que ambos padres/tutores trabajen. La importancia dada a este ítem, es significativamente menor en aquellos grupos donde trabaja fuera de casa la madre/tutora y donde ambos trabajan fuera de casa, con respecto al grupo donde es el padre/tutor quien trabaja fuera de la casa.

    Palabras clave: Violencia Escolar, padres, etiología, aspectos familiares.

    Since parents are one of the essential agents in the child development, in many cases they are responsible, together with teachers and society, of the emerging violent conduct in the individual. Consequently, this research analyses the parents’ perception (including fathers, mothers, guardians and any other adult in charge of a minor about family matters susceptible of being considered the reason or origin of violence in youths

  19. A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling

    Directory of Open Access Journals (Sweden)

    Jia WX

    2015-04-01

    Full Text Available Wei-Xue Jia,1,2 Xue-Min Xiao,1,2 Jian-Bing Wu,1,2 Yi-Ping Ma,1,2 Yi-Ping Ge,1,2 Qi Li,1,2 Qiu-Xia Mao,1,2 Cheng-Rang Li1,2 1Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China; 2Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China Abstract: Piebaldism is a rare autosomal dominant genodermatosis, manifesting as congenital and stable depigmentation of the skin and white forelock. It has been found to be associated with mutations in the KIT or SLUG genes. We report a Chinese piebaldism family including a 28-year-old woman and her 3-year-old son with characteristics of white patches and forelock associated with numerous brown macules and patches. Genomic DNA samples of the proband and her son were extracted from their peripheral blood. One hundred unrelated healthy individuals were used as controls. All coding regions of KIT, SLUG, and NF1 genes were amplified by polymerase chain reaction using exon flanking intronic primers and Sanger sequencings were performed. DNA sequencing revealed heterozygous missense c.2431T>G mutation in exon 17 of the KIT gene in the proband and the affected son. No potentially pathogenic variant was identified in SLUG or NF1 genes. The nucleotide substitution was not found in 100 unrelated control individuals. This study reveals a novel KIT mutation in piebaldism, and it further supports that café-au-lait macules and intertriginous freckling of piebaldism are parts of pigmented anomaly in piebaldism, which does not necessarily represent coexistence of neurofibromatosis type 1 (NF1. Keywords: novel mutation, KIT gene, neurofibromatosis type 1 

  20. Silencing of the sulphur rich α-gliadin storage protein family in wheat grains (Triticum aestivum L. causes no unintended side-effects on other metabolites

    Directory of Open Access Journals (Sweden)

    Christian eZörb

    2013-09-01

    Full Text Available Wheat is an important source of proteins and metabolites for human and animal nutrition. To assess the nutritional quality of wheat products, various protein and diverse metabolites have to be evaluated. The grain storage protein family of the α-gliadins are suggested to be the primary initiator of the inflammatory response to gluten in Celiac disease patients. With the technique of RNAi, the α-gliadin storage protein fraction in wheat grains was recently knocked down. From a patient's perspective, this is a desired approach, however, this study aims to evaluate whether such a down-regulation of these problematic α-gliadins also has unintended side-effects on other plant metabolites. Such uncontrolled and unkown arbitrary effects on any metabolite in plants designated for food production would surely represent an avoidable risk for the consumer. In general, α-gliadins are rich in sulphur, making their synthesis and content depended of the sulphur supply. For this reason, the influence of the application of increasing sulphur amounts on the metabolome of α-gliadin-deficient wheat was additionally investigated because it might be possible that e.g. considerable high/low amounts of S might increase or even induce such unintended effects that are not observable under moderate S nutrition. By silencing the α-gliadin genes, a recently developed wheat line that lacks the set of 75 corresponding α-gliadin proteins has become available. The plants were subsequently tested for RNAi-induced effects on metabolites that were not directly attributable to the specific effects of the RNAi-approach on the α-gliadin proteins. For this, GC-MS-based metabolite profiles were recorded. A comparison of wild type with gliadin-deficient plants cultivated in pot experiments revealed no differences in all 109 analyzed metabolites, regardless of the S-nutritional status. No unintended effects attributable to the RNAi-based specific genetic deletion of a storage

  1. Identification of eight new mutations in familial neurogenic diabetes insipidus supports the concept that defective folding of the mutant provasopressin-neurophysin causes the disease

    Energy Technology Data Exchange (ETDEWEB)

    Rittig, S.; Siggaard, C.; Pedersen, E.B. [University Hospital in Aarhus (Denmark)] [and others

    1994-09-01

    Familial neurogenic diabetes insipidus (FNDI) is an autosomal dominant disorder with a uniform phenotype characterized by polyuria, polydipsia and a severe deficiency of arginine vasopressin (AVP). These abnormalities develop postnatally and appear to be due to progressive degeneration of AVP producing neurons. Previous studies in 8 FNDI kindreds have identified 5 different mutations in the gene that codes for the AVP-neurophysin (NP) precursor, AVP-NP. Four kindreds had the same missense mutation in the part of exon 1 that codes for the C-terminal amino acid of the signal peptide (SP). The other 4 had different missense mutations or a codon deletion in exon 2 which codes for the highly conserved part of NP. In the present study, the AVP-NP genes from 8 other kindreds with FNDI were sequenced bidirectionally using sequence and single-stranded DNA amplified by PCR with biotinylated primers flanking each of the 3 exons. We find that each of the 8 kindreds has a different, previously unreported mutation in either the SP coding part of exon 1, in exon 2 or in the variable, NP-coding part of exon 3. Combining these 8 new mutations with the 5 described previously reveals a distribution pattern that corresponds closely to the domains involved in the mutually interactive processes of AVP binding, folding and dimerization of NP. Based on these findings and the clinical features of FNDI, we postulate that the precursors produced by the mutant alleles are cytotoxic because they do not fold or dimerize properly for subsequent packaging and processing.

  2. Wheat Brassinosteroid-Insensitive1 (TaBRI1) Interacts with Members of TaSERK Gene Family and Cause Early Flowering and Seed Yield Enhancement in Arabidopsis.

    Science.gov (United States)

    Singh, Akanksha; Breja, Priyanka; Khurana, Jitendra P; Khurana, Paramjit

    2016-01-01

    Brassinosteroids (BRs) hormones are important for plant growth, development and immune responses. They are sensed by the transmembrane receptor kinase Brassinosteroid-Insensitive 1 (BRI1) when they bind to its extracellular Leu-rich repeat (LRR) domain. We cloned and characterized the TaBRI1 from T. aestivum and raised overexpression transgenics in Arabidopsis to decipher its functional role. TaBRI1 protein consists of a putative signal peptide followed by 25 leucine rich repeats (LRR), a transmembrane domain and a C-terminal kinase domain. The analysis determined the interaction of TaBRI1 with five members of the wheat Somatic Embryogenesis Receptor Kinase (TaSERKs) gene family (TaSERK1, TaSERK2, TaSERK3, TaSERK4 and TaSERK5), at the plasma membrane. Furthermore, overexpression of TaBRI1 in Arabidopsis leads to the early flowering, increased silique size and seed yield. Root growth analysis of TaBRI1 overexpressing transgenic plants showed hypersensitivity to epi-brassinolide (epi-BL) hormone in a dose-dependent manner. Interestingly, transgenic Arabidopsis plants show thermotolerance phenotype at the seedling stages as revealed by chlorophyll content, photosystem II activity and membrane stability. The transcriptome profiling on the basis of microarray analysis indicates up-regulation of several genes related to brassinosteroid signaling pathway, abiotic stress response, defense response and transcription factors. These studies predict the possible role of TaBRI1 gene in plant growth and development imparting tolerance to thermal stress. PMID:27322749

  3. Wheat Brassinosteroid-Insensitive1 (TaBRI1 Interacts with Members of TaSERK Gene Family and Cause Early Flowering and Seed Yield Enhancement in Arabidopsis.

    Directory of Open Access Journals (Sweden)

    Akanksha Singh

    Full Text Available Brassinosteroids (BRs hormones are important for plant growth, development and immune responses. They are sensed by the transmembrane receptor kinase Brassinosteroid-Insensitive 1 (BRI1 when they bind to its extracellular Leu-rich repeat (LRR domain. We cloned and characterized the TaBRI1 from T. aestivum and raised overexpression transgenics in Arabidopsis to decipher its functional role. TaBRI1 protein consists of a putative signal peptide followed by 25 leucine rich repeats (LRR, a transmembrane domain and a C-terminal kinase domain. The analysis determined the interaction of TaBRI1 with five members of the wheat Somatic Embryogenesis Receptor Kinase (TaSERKs gene family (TaSERK1, TaSERK2, TaSERK3, TaSERK4 and TaSERK5, at the plasma membrane. Furthermore, overexpression of TaBRI1 in Arabidopsis leads to the early flowering, increased silique size and seed yield. Root growth analysis of TaBRI1 overexpressing transgenic plants showed hypersensitivity to epi-brassinolide (epi-BL hormone in a dose-dependent manner. Interestingly, transgenic Arabidopsis plants show thermotolerance phenotype at the seedling stages as revealed by chlorophyll content, photosystem II activity and membrane stability. The transcriptome profiling on the basis of microarray analysis indicates up-regulation of several genes related to brassinosteroid signaling pathway, abiotic stress response, defense response and transcription factors. These studies predict the possible role of TaBRI1 gene in plant growth and development imparting tolerance to thermal stress.

  4. Comparative study of Acupuncture, Bee Venom Acupuncture and Bee Venom Herbal Acupuncture on the treatment of Post-stroke Hemiplegic Shoulder Pain

    Directory of Open Access Journals (Sweden)

    Jae Yong Eom

    2006-02-01

    Full Text Available Objective : This experiment was conducted to evaluate the effectiveness of Acupuncture, Bee Venom Acupuncture (BVA and Bee Venom Herbal Acupuncture (BVHA on post-stroke hemiplegic shoulder pain. Methods : 30 patients were randomly allocated into Acupuncture group, BVA group and BVHA group and was monitored weekly for 4 weeks; initial(T0, 1 week(T1, 2 weeks(T2, 3 weeks(T3 and 4 weeks(T4. Results : Visual analogue scale of shoulder pain showed significant decrease in BVA and BVHA groups compared to the Acupuncture group at T4 evaluation. Painless passive ROM of shoulder external rotation and Fugl-Meyer Motor Assessment of Upper Limb motor function showed significant increase in all groups. Modified Ashworth scale of the spasticity of upper limb showed no differences between the three groups. Conclusion : BVA & BVHA appears to be an effective in treating post-stroke hemiplegic shoulder pain. Further clinical studies must be done to obtain more concrete findings.

  5. Postural control during sit-to-stand movement and its relationship with upright position in children with hemiplegic spastic cerebral palsy and in typically developing children

    Directory of Open Access Journals (Sweden)

    Silvia L. Pavão

    2015-02-01

    Full Text Available OBJECTIVE: The purpose of this study was to compare postural control in typically developing (TD children and children with cerebral palsy (CP during the sit-to-stand (STS movement and to assess the relationship between static (during static standing position and dynamic postural control (during STS movement in both groups. METHOD: The center of pressure (CoP behavior of 23 TD children and 6 children with spastic hemiplegic CP (Gross Motor Function Classification System [GMFCS] I and II was assessed during STS movement performance and during static standing conditions with the use of a force plate. The data obtained from the force plate were used to calculate CoP variables: anteroposterior (AP and mediolateral (ML amplitudes of CoP displacement and the area and velocity of CoP oscillation. RESULTS: According to the Mann-Whitney test, children with CP exhibited higher CoP values in all of the analyzed variables during the beginning of STS movement. Pearson's correlation verified a positive correlation between the CoP variables during both static conditions and the performance of STS movement. CONCLUSIONS: Children with spastic hemiplegic CP present major postural oscillations during the beginning of STS movement compared with typical children. Moreover, the observed relationship between postural control in static and dynamic conditions reveals the importance of body control in the static position for the performance of functional activities that put the body in motion, such as STS movement.

  6. Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children.

    Science.gov (United States)

    Al-Allaf, Faisal A; Alashwal, Abdullah; Abduljaleel, Zainularifeen; Taher, Mohiuddin M; Siddiqui, Shahid S; Bouazzaoui, Abdellatif; Abalkhail, Hala; Aun, Rakan; Al-Allaf, Ahmad F; AbuMansour, Iman; Azhar, Zohor; Ba-Hammam, Faisal A; Khan, Wajahatullah; Athar, Mohammad

    2016-01-01

    Familial hypercholesterolemia (FH) is an autosomal dominant disease, predominantly caused by variants in the low-density lipoprotein (LDL) receptor gene (LDLR). Herein, we describe genetic analysis of severely affected homozygous FH patients who were mostly resistant to statin therapy and were managed on an apheresis program. We identified a recurrent frameshift mutation p.(G676Afs*33) in exon 14 of the LDLR gene in 9 probands and their relatives in an apparently unrelated Saudi families. We also describe a three dimensional homology model of the LDL receptor protein (LDLR) structure and examine the consequence of the frameshift mutation p.(G676Afs*33), as this could affect the LDLR structure in a region involved in dimer formation, and protein stability. This finding of a recurrent mutation causing FH in the Saudi population could serve to develop a rapid genetic screening procedure for FH, and the 3D-structure analysis of the mutant LDLR, may provide tools to develop a mechanistic model of the LDLR function.

  7. Familial hyperaldosteronism.

    Science.gov (United States)

    Stowasser, M; Gordon, R D

    2001-09-01

    Primary aldosteronism (PAL) may be as much as ten times more common than has been traditionally thought, with most patients normokalemic. The study of familial varieties has facilitated a fuller appreciation of the nature and diversity of its clinical, biochemical, morphological and molecular aspects. In familial hyperaldosteronism type I (FH-I), glucocorticoid-remediable PAL is caused by inheritance of an ACTH-regulated, hybrid CYP11B1/CYP11B2 gene. Genetic testing has greatly facilitated diagnosis. Hypertension severity varies widely, demonstrating relationships with gender, affected parent's gender, urinary kallikrein level, degree of biochemical disturbance and hybrid gene crossover point position. Analyses of aldosterone/PRA/cortisol 'day-curves' have revealed that (1) the hybrid gene dominates over wild type CYP11B2 in terms of aldosterone regulation and (2) correction of hypertension in FH-I requires only partial suppression of ACTH, and much smaller glucocorticoid doses than those previously recommended. Familial hyperaldosteronism type II is not glucocorticoid-remediable, and is clinically, biochemically and morphologically indistinguishable from apparently sporadic PAL. In one informative family available for linkage analysis, FH-II does not segregate with either the CYP11B2, AT1 or MEN1 genes, but a genome-wide search has revealed linkage with a locus in chromosome 7. As has already occurred in FH-I, elucidation of causative mutations is likely to facilitate earlier detection of PAL and other curable or specifically treatable forms of hypertension. PMID:11595502

  8. Novel homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family.

    Science.gov (United States)

    Xu, H; Li, Z; Wang, T; Wang, S; Liu, J; Wang, D W

    2015-12-01

    Kallmann syndrome (KS) is a genetically heterogeneous disease characterised by hypogonadotrophic hypogonadism in association with anosmia or hyposmia. This condition affects 1 in 10 000 men and 1 in 50,000 women. Defects in seventeen genes including KAL1 gene contribute to the molecular basis of KS. We report the clinical characteristics, molecular causes and treatment outcome of two Chinese brothers with KS and X-linked ichthyosis. The phenotypes of the patients were characterised by bilateral cryptorchidism, unilateral renal agenesis in one patient but normal kidney development in another. The patients had low serum testosterone, follicle-stimulating hormone and luteinising hormone levels and a blunt response to the gonadotrophin-releasing hormone stimulation test. After human chorionic gonadotrophin treatment, the serum testosterone levels were normalized, and the pubic hair, penis length and testicular volumes were greatly improved in both of the patients. The two affected siblings had the same novel deletion at Xp22.3 including exons 9-14 of KAL1 gene and entire STS gene. Our study broadens the mutation spectrum in the KAL1 gene associated with KS and facilitates the genetic diagnosis and counselling for KS. PMID:25597551

  9. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies

    Science.gov (United States)

    Ferreira, Susana; Ortiz, Alberto; Germain, Dominique P.; Viana-Baptista, Miguel; Gomes, António Caldeira; Camprecios, Marta; Fenollar-Cortés, Maria; Gallegos-Villalobos, Ángel; Garcia, Diego; García-Robles, José Antonio; Egido, Jesús; Gutiérrez-Rivas, Eduardo; Herrero, José Antonio; Mas, Sebastián; Oancea, Raluca; Péres, Paloma; Salazar-Martín, Luis Manuel; Solera-Garcia, Jesús; Alves, Helena; Garman, Scott C.; Oliveira, João Paulo

    2015-01-01

    Summary Lysosomal α-galactosidase A (α-Gal) is the enzyme deficient in Fabry disease (FD), an X-linked glycosphingolipidosis caused by pathogenic mutations affecting the GLA gene. The early-onset, multi-systemic FD classical phenotype is associated with absent or severe enzyme deficiency, as measured by in vitro assays, but patients with higher levels of residual α-Gal activity may have later-onset, more organ-restricted clinical presentations. A change in the codon 118 of the wild-type α-Gal sequence, replacing basic arginine by a potentially sulfhydryl-binding cysteine residue – GLA p.(Arg118Cys) –, has been recurrently described in large FD screening studies of high-risk patients. Although the Cys118 allele is associated with high residual α-Gal activity in vitro, it has been classified as a pathogenic mutation, mainly on the basis of theoretical arguments about the chemistry of the cysteine residue. However its pathogenicity has never been convincingly demonstrated by pathology criteria. We reviewed the clinical, biochemical and histopathology data obtained from 22 individuals of Portuguese and Spanish ancestry carrying the Cys118 allele, including 3 homozygous females. Cases were identified either on the differential diagnosis of possible FD manifestations and on case-finding studies (n=11; 4 males), or on unbiased cascade screening of probands’ close relatives (n=11; 3 males). Overall, those data strongly suggest that the GLA p.(Arg118Cys) variant does not segregate with FD clinical phenotypes in a Mendelian fashion, but might be a modulator of the multifactorial risk of cerebrovascular disease, since the allelic frequency in stroke patients was 0.0087 (p=0.0185 vs the general population). The Cys118 allelic frequency in healthy Portuguese adults (n=696) has been estimated as 0.001, therefore not qualifying for “rare” condition. PMID:25468652

  10. Children in Maritally Violent Families: A Look at Family Dynamics.

    Science.gov (United States)

    Gullette, Lyn Cobin

    1987-01-01

    Maritally violent families are examined. Two types of violent families are described. Type I families use violence to establish a hierarchy and maintain control over members. In type II families, violence is used to express anger or to react to stress. Both types may cause behavioral problems in the children. (VM)

  11. Causes of Child Abuse

    OpenAIRE

    Deveci, S. Erhan; Açık, Yasemin

    2003-01-01

    Child abuse is an important public health problem that is present almost in every society and environment at different level and intensities. For implementation of child abuse protection measures it is necessary to investigate its causes. In this review, causes of child abuse was attempted to investigate with respects to the society and institution, family and individual and child related factors.

  12. Family and non-family business differences in Estonia

    Directory of Open Access Journals (Sweden)

    Maret Kirsipuu

    2014-01-01

    Full Text Available This paper seeks to identify differences between family enterprises and non-family enterprises. The concepts of entrepreneurship, entrepreneur and enterprise/business are clarified. The paper contains the results of research conducted by the author among family entrepreneurs in 2007–2012 that can be compared to the research results reached by Wahl (2011. This research demonstrates that there are differences between family entrepreneurs and non-family entrepreneurs, which are primarily caused by that family entrepreneurs value first of all their family members, family traditions and only then profit earning.

  13. 3D Gait Analysis for Old Hemiplegic Patients%老年脑卒中偏瘫患者的三维步态分析

    Institute of Scientific and Technical Information of China (English)

    桑德春; 卢利萍; 邵春霞; 刘海荣; 赵政

    2013-01-01

    Objective To explore the characteristics of gait of old hemiplegic patients. Methods 22 old hemiplegic patients were investi-gated with Motion Analysis. Results The bilateral support phase increased, especially for the affected lateral. The swing phase decreased, as well as the frequency, step length, stride length and walking speed. Their heads flexed forward, but trunks remained upright. The motion of range of shoulder and elbow decreased in the affected lateral (P<0.05), and the angle of flexion and adduction in the affected shoulder and flexion in elbow increases (P<0.05). The motion of range of the affected hip, knee and ankle decreased (P<0.05). Conclusion The walking ability impaired in the old hemiplegic patients, with upper limbs spasticity, vision compensation, etc.%目的探讨老年偏瘫患者的步态特点。方法采用三维步态分析仪对22例老年偏瘫患者进行步态分析。结果老年偏瘫患者的双侧下肢站立相百分比增大,健侧较患侧明显,摆动相百分比减小,步频减小;步长、跨步长及步速减小;头部前倾,躯干基本保持直立位;患侧上肢较健侧上肢的肩关节、肘关节角度变化范围缩小(P<0.05);患侧肩关节屈曲内收、肘关节屈曲角度较健侧增大(P<0.05);患侧髋膝踝关节角度变化范围较健侧缩小(P<0.05)。结论老年偏瘫患者步行功能下降,上肢痉挛,步行时出现视觉代偿。

  14. Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene.

    Science.gov (United States)

    Zhang, Zhe; Feng, Ye; Ye, Dan; Li, Cheng-jiang; Dong, Feng-qin; Tong, Ying

    2015-11-01

    Congenital X-linked adrenal hypoplasia (AHC) is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism (HHG) during adolescence. In this paper, we present a Chinese family with AHC. Two brothers, misdiagnosed with adrenal insufficiency of unknown etiology at the age of 9, were correctly diagnosed with AHC when delayed puberty, HHG, and testicular defects were observed. We investigated the clinical features and identified the dosage-sensitive sex reversal AHC critical region of the X chromosome gene 1 (DAX-1) mutation in this kindred. Direct sequencing of the DAX-1 gene revealed that the two siblings have a novel mutation (1268delA) of which their mother is a heterozygous carrier. This mutation causes a frameshift and a premature stop codon at position 436, encoding a truncated protein. It is important to increase knowledge of the mutational spectrum in genes related to this disease, linking phenotype to genotype. PMID:26537215

  15. Crescimento e antropometria em pacientes com paralisia cerebral hemiplégica Growth and anthropometry in hemiplegic cerebral palsy patients

    Directory of Open Access Journals (Sweden)

    Marise Bueno Zonta

    2009-12-01

    involved and non-involved sides of 24 children with hemiplegic cerebral palsy, comparing them to standard values for age. METHODS: This cross-sectional study enrolled 24 consecutive children with cerebral palsy clinically classified as spastic hemiplegia. The anthropometric measures included: weight, lenght, head circumference, total upper limb length, hand length, palm width, total lower limb length, foot length, and limb circumference of upper-arm, thigh and calf. The anthropometric differences between both sides were calculated in centimeters and a comparison of the involved and non-involved sides was made. Two different reference values were used to compare the measures of hand and foot length: growth charts and the software ABase® (a PalmOS-based software. The Spearman's correlation coefficient was estimated for the association between quantitative variables and the Wilcoxon non-parametric test was used for age comparisons between involved and noninvolved sides. RESULTS: The mean values of weight, length and head circumference were within the normal range for age and 21% of the children presented microcephaly. Discrepancy was noted between both sides in all cases, being the largest discrepancy in hand length and width. There was a positive correlation between the discrepancy observed in superior and inferior affected limbs (r=0.48, and discrepancy increases with age (r=0.44. CONCLUSION: Growth impairment in children with hemiplegic cerebral palsy was observed on the affected limbs and in smaller proportion in head circumference.

  16. Effects of modified bridging exercises on static postural control of a poststroke hemiplegic patient who had received surgery for lumbar spinal stenosis: a case report.

    Science.gov (United States)

    Kim, Young-Dong

    2015-04-01

    [Purpose] This study investigated the efficacy on postural control of a bridging exercise in order to suggest a pertinent procedure for the bridging exercise. [Subject] One poststroke hemiplegic patient who had received surgery for lumbar spinal stenosis participated in this study [Methods] A reverse ABAB single-case experimental design was used. To assess postural control, foot pressure and the stability limit test were evalulated once a week a total of 4 times during the intervention period. [Results] Noticeable improvement in the distribution of foot pressure and increased stability limit were shown after performing the bridging exercise supervised by a physical therapist. [Conclusion] Bridging exercise on a plinth is effective at balancing body weight-bearing and resulted in the patient putting her weight on both feet evenly and in both the anterior and posterior directions.

  17. Resting State and Diffusion Neuroimaging Predictors of Clinical Improvements Following Constraint-Induced Movement Therapy in Children With Hemiplegic Cerebral Palsy.

    Science.gov (United States)

    Manning, Kathryn Y; Fehlings, Darcy; Mesterman, Ronit; Gorter, Jan Willem; Switzer, Lauren; Campbell, Craig; Menon, Ravi S

    2015-10-01

    The aim was to identify neuroimaging predictors of clinical improvements following constraint-induced movement therapy. Resting state functional magnetic resonance and diffusion tensor imaging data was acquired in 7 children with hemiplegic cerebral palsy. Clinical and magnetic resonance imaging (MRI) data were acquired at baseline and 1 month later following a 3-week constraint therapy regimen. A more negative baseline laterality index characterizing an atypical unilateral sensorimotor resting state network significantly correlated with an improvement in the Canadian Occupational Performance Measure score (r = -0.81, P = .03). A more unilateral network with decreased activity in the affected hemisphere was associated with greater improvements in clinical scores. Higher mean diffusivity in the posterior limb of the internal capsule of the affect tract correlated significantly with improvements in the Jebsen-Taylor score (r = -0.83, P = .02). Children with more compromised networks and tracts improved the most following constraint therapy.

  18. WtsE, an AvrE-family effector protein from Pantoea stewartii subsp. stewartii, causes disease-associated cell death in corn and requires a chaperone protein for stability.

    Science.gov (United States)

    Ham, Jong Hyun; Majerczak, Doris R; Arroyo-Rodriguez, Angel S; Mackey, David M; Coplin, David L

    2006-10-01

    The pathogenicity of Pantoea stewartii subsp. stewartii to sweet corn and maize requires a Hrp type III secretion system. In this study, we genetically and functionally characterized a disease-specific (Dsp) effector locus, composed of wtsE and wtsF, that is adjacent to the hrp gene cluster. WtsE, a member of the AvrE family of effector proteins, was essential for pathogenesis on corn and was complemented by DspA/E from Erwinia amylovora. An intact C-terminus of WtsE, which contained a putative endoplasmic reticulum membrane retention signal, was important for function of WtsE. Delivery of WtsE into sweet corn leaves by an Escherichia coli strain carrying the hrp cluster of Erwinia chrysanthemi caused water-soaking and necrosis. WtsE-induced cell death was not inhibited by cycloheximide treatment, unlike the hypersensitive response caused by a known Avr protein, AvrRxol. WtsF, the putative chaperone of WtsE, was not required for secretion of WtsE from P. stewartii, and the virulence of wtsF mutants was reduced only at low inoculum concentrations. However, WtsF was required for full accumulation of WtsE within the bacteria at low temperatures. In contrast, WtsF was needed for efficient delivery of WtsE from E. coli via the Erwinia chrysanthemi Hrp system. PMID:17022173

  19. Effectiveness of Constraint induced movement therapy as compared to bimanual therapy in Upper motor function outcome in child with hemiplegic Cerebral palsy

    Science.gov (United States)

    Zafer, Hira; Amjad, Imran; Malik, Arshad Nawaz; Shaukat, Enfall

    2016-01-01

    Objective: This study aims at determining the effectiveness of constraint induced movement therapy as compared to bimanual therapy for improving functional status in children with hemiplegic cerebral palsy. Methods: This study was a randomized control trial, children (n = 20) with spastic hemiplegic cerebral palsy was randomly allocated to CIMT (constraint induced movement therapy) and BMT (bimanual therapy) group. The children with spastic hemiplegia, age between 1.5 and 12 year and having 10 degrees of wrist extension and 10 degrees of finger extension were included in study. Treatment regime was two hours of daily training six days a week for two weeks. Constraint was applied to CIMT group for six hours. The outcome tool QUEST was used for baseline and post treatment assessment. Result: CIMT had superior outcome as compared to BMT in improving functional status (p=0.007). On QUEST tool grasp and dissociated movements results were significant (p=0.005) and (p=0.028) respectively. Weight bearing and protective extension resulted in no significant outcome (p=0.080) and (p=0.149) respectively. Dissociated movements and grasp are significantly improved but there is no difference for weight bearing and protective extension in CIMT treated group as compared to BMT treated group. Conclusion: CIMT approach is better in improving functional status of child with cerebral palsy as compared to BMT. Significant improvement in grasp and dissociated movement is noted in group of CIMT while there was no significant improvement in weight bearing and protective extension in CIMT group when compared to BMT. CIMT is considered the appropriate treatment approach for unilateral conditions while BMT for bilateral conditions. PMID:27022371

  20. Muscle Recruitment and Coordination following Constraint-Induced Movement Therapy with Electrical Stimulation on Children with Hemiplegic Cerebral Palsy: A Randomized Controlled Trial.

    Directory of Open Access Journals (Sweden)

    Kaishou Xu

    Full Text Available To investigate changes of muscle recruitment and coordination following constraint-induced movement therapy, constraint-induced movement therapy plus electrical stimulation, and traditional occupational therapy in treating hand dysfunction.In a randomized, single-blind, controlled trial, children with hemiplegic cerebral palsy were randomly assigned to receive constraint-induced movement therapy (n = 22, constraint-induced movement therapy plus electrical stimulation (n = 23, or traditional occupational therapy (n = 23. Three groups received a 2-week hospital-based intervention and a 6-month home-based exercise program following hospital-based intervention. Constraint-induced movement therapy involved intensive functional training of the involved hand during which the uninvolved hand was constrained. Electrical stimulation was applied on wrist extensors of the involved hand. Traditional occupational therapy involved functional unimanual and bimanual training. All children underwent clinical assessments and surface electromyography (EMG at baseline, 2 weeks, 3 and 6 months after treatment. Surface myoelectric signals were integrated EMG, root mean square and cocontraction ratio. Clinical measures were grip strength and upper extremity functional test.Constraint-induced movement therapy plus electrical stimulation group showed both a greater rate of improvement in integrated EMG of the involved wrist extensors and cocontraction ratio compared to the other two groups at 3 and 6 months, as well as improving in root mean square of the involved wrist extensors than traditional occupational therapy group (p<0.05. Positive correlations were found between both upper extremity functional test scores and integrated EMG of the involved wrist as well as grip strength and integrated EMG of the involved wrist extensors (p<0.05.Constraint-induced movement therapy plus electrical stimulation is likely to produce the best outcome in improving muscle recruitment

  1. Family Life

    Science.gov (United States)

    ... Family and Friends > Family Life Request Permissions Family Life Approved by the Cancer.Net Editorial Board , 07/ ... treatment become as overwhelming for others in your life as they are for you. Understanding the potential ...

  2. Familial hypertriglyceridemia

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000397.htm Familial hypertriglyceridemia To use the sharing features on this page, please enable JavaScript. Familial hypertriglyceridemia is a common disorder passed down through families. ...

  3. Family Disruptions

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Life Listen Español Text Size Email Print Share Family Disruptions Page Content Article Body No matter how ...

  4. Family Arguments

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Life Listen Español Text Size Email Print Share Family Arguments Page Content Article Body We seem to ...

  5. Family Meals

    Science.gov (United States)

    ... Story" 5 Things to Know About Zika & Pregnancy Family Meals KidsHealth > For Parents > Family Meals Print A ... even more important as kids get older. Making Family Meals Happen It can be a big challenge ...

  6. Study of position control to cervical spinal cord injury of hemiplegic patients during functional activities%颈髓挫伤致偏瘫患者功能锻炼中抗肌痉挛体位的研究

    Institute of Scientific and Technical Information of China (English)

    何瑞琼

    2009-01-01

    目的 抗痉挛体位对颈髓挫伤致瘫痪患者功能锻炼中降低肌痉挛的效果.方法 观察82例颈髓挫伤致偏瘫患者功能锻炼时肌痉挛情况及抗痉挛降低肌痉挛的情况.结果 颈髓挫伤致瘫痪患者,体位转换、移动活动、平衡活动及一些力量性训练过程中发生患侧上肢屈肌痉挛(不自主屈肘或握拳)和下肢伸肌痉挛(不自主膝过伸或踝趾屈)的阳性率,以及采取对抗痉挛体位1个月后,患者肌痉挛被抑制.结论 颈髓挫伤致瘫痪患者早期一些功能活动可以诱发肌肉痉挛产生,抗痉挛抑制体位对此有控制效果.%Objective To study position control to cervical spinal cord injury of hemiplegic patients during functional activities. Methods 82 cases of cervical spinal cord injury of hemiplegic patients functional activities and position control was observated. Results The cervical spinal cord injury of hemiplegic patients while body transfer, balance and strengthening, functional activities easily induced muscles spasticity, against muscles spasticity can in-crease the muscles spasticity. Conclusion The inhibition of muscles spasticity can increased the muscles spasticity the patients of cervical spinal cord injury of hemiplegic.

  7. 家族性高胆固醇血症(FH)致病基因的研究进展%Research progress of genetic causes of familial hypercholesterolemia (FH)

    Institute of Scientific and Technical Information of China (English)

    陈晨

    2012-01-01

    家族性高胆固醇血症( familial hypercholesterolemia,FH)的临床特征为血总胆固醇升高,尤其是低密度脂蛋白胆固醇(low density lipoprotein cholesterol,LDL-c)升高,沉积于组织,形成皮肤或肌腱黄色瘤,导致动脉粥样硬化甚至早发冠心病.FH的发病机制为LDL受体(LDL receptor,LDLR)或apoB基因突变引起LDL受体途径功能缺陷,主要为常染色体显性遗传疾患,具有基因剂量效应;部分患者为常染色体隐性遗传,机制为LDL受体衔接蛋白1(LDL receptor adaptor protein 1,LDLRAP1)失功能型突变,导致LDL内化活性降低.罕见的人类枯草溶菌素转化酶9 (proprotein convertase subtilisin/kexin type 9,PCSK9)发生功能型突变也可引起严重的FH表型.PCSK9通过降解LDLR蛋白间接下调LDL受体途径,其失功能突变可致血浆LDL水平下降.因此PCSK9是目前降脂药物的研究热点.%Familial hypercholesterolemia (FH) is characterized by raised serum low density lipoprotein cholesterol (LDL-c) levels, which result in excess deposition of cholesterol in tissues, and then lead to atherosclerosis and premature coronary heart disease. The mutations of LDL receptor or apoB play main roles in this disease. FH results from defects in the uptake and degradation of LDL via the LDL receptor pathway. FH is primarily an autosomal dominant disorder with a gene-dosage effect. An autosomal recessive form of FH caused by loss-of-function mutations in LDL receptor adaptor protein 1 (LDLRAP1), which encodes a protein required for internalization of the LDL receptor ( LDLR). Rare gain-of-function mutations in proprotein convertase subtilisin/kexin type 9 (PCSK9) cosegregate with hypercholesterolemia, and one mutation is associated with a particularly severe FH phenotype. Expression of PCSK9 normally down-regulates the LDLR pathway by indirectly causing degradation of LDLR protein, and loss-of-function mutations in PCSK9 result in low plasma LDL levels. Thus,PCSK9 is an

  8. Clasificación difusa de la marcha hemipléjica utilizando indicadores cinemáticos en pelvis (Fuzzy Classification of hemiplegic gait using kinematic indicators in pelvis

    Directory of Open Access Journals (Sweden)

    Ubaldo Padilla-Liendo

    2015-05-01

    Full Text Available This research aims to model fuzzy characteristics of hemiplegic indicators in the pelvis. These indicators are consistent with those used by specialists to classify spastic hemiplegia following the classification proposed by Dr. Gage. The sample consisted of 83 patients with motor dysfunction subtype of spastic hemiplegia. These patients have been treated with protocols of Children's Orthopedic Hospital (HOI in Caracas, Venezuela, between 1999 and 2008. Using statistical tools to indicators in pelvis, the average, the standard deviation and analysis of variance (ANOVA are calculated. These statistics are suitable for building a fuzzy model with membership functions to discriminate types of hemiplegia comparable to the real world. If ANOVA has a value of p << 0.05; hemiplegic indicators in the pelvis are appropriate for the classification. 75% of records were processed and the remaining 25% were used to validate the results according to membership degree and sensitivity. The sensitivity obtained was 89% for type 1, 100% for type 2, 67% for type 3 and 90% for type 4. Experts said that the terms that describe the indicators pelvis, have a natural language, which allows classifying hemiplegic patients in a fuzzy way by degrees of membership

  9. Causes of Child Abuse

    OpenAIRE

    S. Erhan Deveci; Yasemin Acik

    2003-01-01

    Child abuse is an important public health problem that is present almost in every society and environment at different level and intensities. For implementation of child abuse protection measures it is necessary to investigate its causes. In this review, causes of child abuse was attempted to investigate with respects to the society and institution, family and individual and child related factors. [Archives Medical Review Journal 2003; 12(4.000): 396-405

  10. Causes of Child Abuse

    Directory of Open Access Journals (Sweden)

    S. Erhan Deveci

    2003-08-01

    Full Text Available Child abuse is an important public health problem that is present almost in every society and environment at different level and intensities. For implementation of child abuse protection measures it is necessary to investigate its causes. In this review, causes of child abuse was attempted to investigate with respects to the society and institution, family and individual and child related factors. [Archives Medical Review Journal 2003; 12(4.000: 396-405

  11. Family Privilege

    Science.gov (United States)

    Seita, John R.

    2014-01-01

    Family privilege is defined as "strengths and supports gained through primary caring relationships." A generation ago, the typical family included two parents and a bevy of kids living under one roof. Now, every variation of blended caregiving qualifies as family. But over the long arc of human history, a real family was a…

  12. Familial hemiplegic migraine type 2 (FHM2) associated mutation in the 2 isoform of Na,KATPase leads to elevated contractility and vasodilatation

    DEFF Research Database (Denmark)

    Hangaard, Lise; Lykke-Hartmann, Karin; Xie, Zijian;

    is associated with few point mutations in the 2 isoform Na,K-ATPase. Mice bearing a mutation corresponding to the inherited mutation in FHM2 patients (G301R) were used in functional studies of middle cerebral arteries. Arteries from heterozygote G301R mice were not different in total 2 Na,K-ATPase m...

  13. Identification of a key recombinant narrows the CADASIL gene region to 8 cM and argues against allelism of CADASIL and familial hemiplegic migraine

    Energy Technology Data Exchange (ETDEWEB)

    Dichgans, M.; Mayer, M.; Straube, A. [Univ. of Munich (Germany)] [and others

    1996-02-15

    This article reports on new information regarding the genetic mapping of the human CADASIL gene region. Previously, the gene had been mapped to human chromosome 19q12. Using the identification of a chromosomal crossover, the region has been refined to an 8-cM interval. 11 refs., 2 figs., 1 tab.

  14. Familial hemiplegic migraine with prolonged global aura: follow-up findings of subtraction ictal SPECT co-registered to MRI (SISCOM).

    Science.gov (United States)

    Arias-Rivas, Susana; Rodríguez-Yañez, Manuel; Cortés, Julia; Pardo-Parrado, María; Aguiar, Pablo; Leira, Rogelio; Castillo, José; Blanco, Miguel

    2012-10-01

    All authors contributed equally to this work. Susana Arias-Rivas wrote the main paper. Manuel Rodriguez-Yáñez investigated the supplementary data. Julia Cortés and Pablo Aguiar performed the nuclear image studies and analysed and described the neuroimaging results. María Pardo, Rogelio Leira and Jose Castillo jointly conceived the study, followed the patient and prepared the manuscript. Miguel Blanco discussed the results. All authors discussed the results and implications and commented on the manuscript at all stages.

  15. Muslim Families and Family Therapy.

    Science.gov (United States)

    Daneshpour, Manijeh

    1998-01-01

    Examines the applicability of the Anglo-American models of family therapy to Muslim immigrant families. The differences in value systems are the Muslim families' preferences for greater connectedness, a less flexible and more hierarchical family structure, and an implicit communication style. Suggests that directions for change for Muslims need to…

  16. Blood oxygenation-level dependent functional MRI in evaluating the selective activation of motor cortexes associated with recovery of motor function in hemiplegic patients with ischemic stroke

    Institute of Scientific and Technical Information of China (English)

    Yuechun Li; Xiaoyan Liu; Guorong Liu; Ying He; Baojun Wang; Furu Liang; Li Wang; Hui Zhang; Jingfen Zhang; Ruiming Li

    2006-01-01

    BACKGROUND: Previous studies about blood oxygenation-level dependent (BOLD) functional MRI (fMRI) have indicated that the poststroke recovery of motor function is accompanied by the selective activation of motor cor texes with high correlation.OBJECTIVE: To evaluate the short-term outcomes after rehabilitative interventions with BOLD fMRI in hemi plegic patients with acute stroke, and analyze the correlation of the excitement of brain function in the passive and active movements of the affected limb with the recovery of motor function. DESIGN : A case observation. SETTING: Department of Neurology, Baotou Central Hospital. PARTICIPANTS: Thirty hemiplegic inpatients with ischemic stroke were selected from the Department of Neurology, Baotou Central Hospital from January to December in 2005, including 16 males and 14 females, aging 44-71 years with an average age of (56±5) years, and the disease course ranged from 12 to 72 hours. Inclusive criteria: In accordance with the diagnostic standard of ischemic stroke revised by the Fourth National Academic Meeting for Cerebrovascular Disease; Confirmed by cranial CT or MRI. They were all informed agreed with the detected items.METHODS: ① The Bobath technique was adopted in the rehabilitative interventions of the 30 patients, 30 minutes for each time, twice a day for three weeks continuously. ② The hand motor recovery of the stroke patients was graded by the Brunnstrom,stages ( Ⅰ -Ⅵ), and be able to grasp various objects and extend for the whole range was taken as grade Ⅵ. ③ The patients were examined with fMRI BOLD before rehabilitation and 3 weeks after rehabilitation. All the patients were trained with finger movements, the distracting thoughts should be eliminated as much as possible especially during the movement phase, the patients should highly concentrate on the hand movements. The range for the finger movements should be as large as possible with moderate frequency. The hand movements should be 10 s with

  17. Another way to teach family: family nursing game

    Directory of Open Access Journals (Sweden)

    Carla Sílvia Neves da Nova Fernandes

    2014-10-01

    Full Text Available Current paper describes the application of an innovative strategy to teach family, within a hospital context, by sensitizing nurses on the family subject through the use of a game. Given the hospitalization of a relative, the family faces changes in its dynamics caused by the crisis it is exposed to. It is the relevance for including the family within the care process. Since nurses are expected to assume a key role for which they need specific competence to intervene in families when experiencing an eventual crisis. The in-service education becomes a strategy of generating new skills and enhances human capital to improve the quality of nursing care. Considering the importance of including family in the care context, a playful tool called Family Nursing Game has been invented for teaching the family, especially by passing a model of family intervention. The strategy is based on the belief of the existence of relationship between game and learning.

  18. Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin.

    NARCIS (Netherlands)

    Boccalandro, C.; Mattia, F.P. de; Guo, D.C.; Xue, L.; Orlander, P.; King, T.M.; Gupta, P.; Deen, P.M.T.; Lavis, V.R.; Milewicz, D.M.

    2004-01-01

    A Mexican family with partial congenital nephrogenic diabetes insipidus (NDI) that resulted from a mutation in the aquaporin-2 water channel (AQP2) was characterized, and the source of this rare mutation was traced to the family's town of origin in Mexico. Affected individuals with profound polyuria

  19. Familial gigantism

    Directory of Open Access Journals (Sweden)

    Wouter W. de Herder

    2012-01-01

    Full Text Available Familial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

  20. The Causes and Countermeasures of Family Governance Based on Team Production Contract%团队生产契约下家族治理的动因与对策

    Institute of Scientific and Technical Information of China (English)

    吴炯

    2013-01-01

    从家族社会资本的可占用准租的创造和分配的视角,文章界定了家族企业的家族边界和家庭边界,进而挖掘出家族企业的团队生产的契约本质,并由此得出家族治理动因,即家庭边界与家族边界分离后,家庭产权单元在家族团队生产活动中的机会主义倾向。而家族治理的对策是,一方面通过树立家族权威提供监管家族团队生产的委托人,另一方面通过打破团队生产边界保证博弈策略的动态一致性。%Based on the perspective of the creation and distribution about the appropriable rents of family social capital, this paper defines the boundary of relationship family and the boundary of property right family, and restricts altruism hypothesis within the boundary of property right family, then, the nature of team production is endowed to family business. From these bases,this paper points out that the motivation of family governance is the opportunism intention of the property right families in team production after the separating of family boundaries. Moreover, the approaches of family governance can be combined with two strategies. One is to provide team production principal by setting up family authority;the other is to break the bound-ary of team production to ensure the dynamic consistency of game strategies.

  1. Family Burdens Caused by Pediatric Patients with Trisomy -21 Syndrome in Jining City%济宁地区21-三体综合征患儿致家庭负担情况调查

    Institute of Scientific and Technical Information of China (English)

    高立; 王倩飞; 潘兴丽; 武艳群; 张秋梅; 关晶

    2015-01-01

    Objective To explore the family economic and mental burdens caused by children with trisomy - 21 syndrome in jining City. Methods From january to August 2013,a questionnaire survey in 78 children with trisomy - 21 and 170 their carers( study group)were carried out,100 health children of similar age and 190 their carers( control group)in jining. Life Satisfaction Rating( LSR)scale and Life Satisfaction Index A( LSIA)were used to evaluate the subjectsˊ life satisfaction,Symptom Checklist(SCL - 90)to assess the familiesˊ burdens. Results In rural and urban areas,the pediatric patientsˊ treatment costs accounted for 68. 56% ,55. 91% of the familiesˊ incomes in study group. The LSR,LSIA scores were lower in study group than in control group(P < 0. 05);LSIA score was lower in subjects of rural areas than in urban areas in study group,the difference was significant(P < 0. 05). There was difference in scores of somatization,interpersonal relation, depression,anxiety and psychotism in SCL - 90 between 2 groups(P < 0. 05). The scores of interpersonal relation in SCL - 90 were higher in subjects of rural areas than in those of urban areas in study group( P < 0. 05). Conclusion Trisomy - 21 syndrome children may not only bring economic burdens to their families but also affect their carersˊ QOL and mental health, which should be paid enough attention to.%目的:调查济宁地区21-三体综合征患儿致家庭经济负担及精神负担情况。方法2013年1—8月对济宁市78例21-三体综合征患儿的170名陪护人(试验组)及同期济宁市年龄与患儿相仿的、近期无任何重大疾病的100例健康儿童的190名陪护人(对照组)进行问卷调查。采用生活满意度评定量表(LSR)及生活满意度指数 A (LSIA)评定两组陪护人生活满意度,采用症状自评量表(SCL -90)评定两组家庭负担情况。结果试验组农村地区和城镇地区患儿治疗支出占家庭收入的68.56%、55.91

  2. Causes and Countermeasures of the Students with Difficulty in Family, Learning and Idea in Colleges and Universities%浅析高校“三困生”问题的成因及对策

    Institute of Scientific and Technical Information of China (English)

    胡晓璐

    2012-01-01

    在高校中,客观存在着或多或少的“家庭困难、学习困难、思想困惑”的“三困生”.他们极有可能是面临勉强毕业、难就业、退学等情况的高危学生群体,有的“三困生”甚至会做出极端的危害他人、社会的事情来(比如马加爵).因此,笔者认为,三国生问题已经成为一个复杂的社会问题,做好“三困生”工作,不仅是学生发展、学校稳定的要求,也是建设和谐社会的要求.目前高校的帮困体系以物质资助为主,“三困生”的脱困处于被动状态.本文着重分析三困生的成因,从内外因果关系上寻找主动脱困的方法.%In the universities, there are more or less students with difficulty in family, learning and idea, and these students may face difficulty in bare graduation, employment, and withdrawal and some of them may do some things which have extreme harm to others and society (like Ma Jiajue). Therefore, the author believed that this problem had become a complex social problem. To do well the work for these students is not only the requirement for the stable development of students, schools, and is also the requirement for building a harmonious society. The core of the current helping system in colleges and universities is only the material assistance, so the turnaround of these poor students is in a passive state. This paper analyzes the causes and tries to find the method to resolve this problems from the inside and outside causal relationship.

  3. 痉挛型偏瘫脑电图癫癎样放电危险因素分析%Risk factors for interictal epileptiform discharges on electroencephalogram in children with spastic hemiplegic cerebral palsy

    Institute of Scientific and Technical Information of China (English)

    李素云; 钱旭光; 赵伊黎; 符文杰; 谭晓如; 刘振寰

    2015-01-01

    目的:探讨痉挛型偏瘫的临床表现及脑电图发作间期癫癎样放电(IED)特征,并分析IED相关危险因素。方法收集83例痉挛型偏瘫患儿的临床资料、视频脑电图、影像学检查及认知功能评定结果等。采用多因素logistic回归分析IED的影响因素。结果13%痉挛型偏瘫患儿伴有癫癎。34%患儿伴IED,IED组癫癎发生率(32%)较非IED组者(4%)显著升高(P<0.01)。存在合并症、皮层受累者IED发生率显著增高(P<0.01);不同认知水平组其IED发生率差异有统计学意义(P<0.01)。皮层受累、认知水平低下是痉挛型偏瘫伴IED的危险因素(OR分别为11.521、2.238,P<0.05)。结论痉挛型偏瘫常伴IED,存在IED者癫癎发生率更高。皮层受累及认知水平低下对痉挛型偏瘫伴IED有预测价值。%ObjectiveTo investigate the clinical symptoms and features of interictal epileptiform discharges (IED) on electroencephalogram (EEG) in children with spastic hemiplegic cerebral palsy (CP) and to analyze the risk factors for IED.MethodsEighty-three children with spastic hemiplegic CP were recruited, and their clinical data, results of video-electroencephalogram, imaging ifndings, and cognitive levels were collected. The inlfuencing factors for IED were determined by multiple logistic regression analysis.ResultsThe incidence of epilepsy was 13% in children with spastic hemiplegic CP; 34% of these cases had IED. The incidence of epilepsy in children with IED (32%) was signiifcantly higher than that in those without IED (4%) (P<0.01). The incidence of IED in children with complications and brain cortex impairment increased signiifcantly (P<0.01). The incidence of IED varied signiifcantly between patients with different cognitive levels (P<0.01). Brain cortex impairment (OR=11.521) and low cognitive level (OR=2.238) were risk factors for IED in children with spastic hemiplegic CP (P<0.05).ConclusionsSpastic hemiplegic CP

  4. Family therapy

    Directory of Open Access Journals (Sweden)

    Shaikh Altamash

    2013-01-01

    Full Text Available Another major force not letting us succeed in the treatment of diabetes remains right inside the patients home, their family members. Hence, it is important to know the perception of the close family members about this simple and strong tool in diabetes, ′insulin′. The drug is nearing its century, it has not fully being accepted gracefully even in todays electronic savvy society. So, we need to strongly discover the reason for its non-acceptance, while trials are out inventing new drugs. One vital thing that can change this attitude is increasing the understanding of this drug, insulin in depth to close people around the patient, the ′family′. Underestimating family′s perception about disease and treatment for diabetes is detrimental to both diseased and the doctor. This consists of a biopsychosocial model; biological, psychological and social factors. Family forms the most important part of it. The strategies in family therapy include psychodynamic, structural, strategic, and cognitive-behavioral component. Diabetes has and will continue to rise, so will be the treatment options. From the clinicians side its to fix fasting first but from patients its fix family first. Family therapy demonstrates the importance of insulin initiation and maintenance in insulin naive patients, and continuation for others. The specific needs of such patients and their impact on family life are met with family therapy. Who needs family therapy? Benefits of family therapy and a case based approach is covered.

  5. 电针结合康复治疗中风后偏瘫肩痛的临床效果%Clinical Effects in Electro-acupuncture Combined with Rehabilitation Therapy on Hemiplegic Shoulder Pain after Stroke

    Institute of Scientific and Technical Information of China (English)

    车革方

    2013-01-01

    Objective:To investigate the clinical effects of electro-acupuncture combined with rehabilitation therapy on hemiplegic shoulder pain after stroke. Methods:129 cases of hemiplegic shoulder pain after stroke were divided into comprehensive group of 46 cases, rehabilitation group of 42 cases and electro-acupuncture group of 41 cases, comprehensive group was treated with electro-acupuncture and rehabilitation, rehabilitation group with routine rehabilitation therapy, electro-acupuncture group with routine treatment of electro-acupuncture, the efficacy of three groups were com-pared. Results:Motor function of upper limbs and activity score of shoulder joint of comprehensive group were significantly higher than those of electro-acupuncture group and rehabilitation group (P<0.05). Conclusion: Electro-acupuncture combined with rehabilitation therapy on hemiplegic shoulder pain after stroke can effectively improve activity of shoulder joint and motor function of upper limbs.%目的:探讨电针结合康复治疗中风后偏瘫肩痛的临床效果。方法:129名中风后偏瘫肩痛患者分为综合组46例、康复组42例及电针组41例,综合组采用电针结合康复治疗,康复组予常规康复治疗,电针组予常规电针治疗,比较三组效果。结果:综合组上肢运动功能与肩关节活动度评分均高于电针组与康复组(P<0.05)。结论:电针结合康复治疗中风后偏瘫肩痛能够有效改善肩关节活动度及上肢运动功能。

  6. 针灸配合康复训练治疗脑卒中后半身不遂的临床研究%Clinic Analysis of Half- length - flabbiness After Hemiplegic Stroke Treated by Acupuncture Combined with Rehabilitation Training

    Institute of Scientific and Technical Information of China (English)

    黄振俊; 陈建新; 常智跃

    2011-01-01

    目的:探索针灸配合康复训练治疗脑卒中后半身不遂的有效方法.方法:将81例脑卒中后半身不遂患者随机随机分为3组,针灸治疗组27例,取头颈部和体穴治疗;康复治疗组27例,给予一对一肢体训练治疗;综合治疗组27例.结果:经过3月的治疗,针灸治疗组基本治愈3例,康复治疗组基本治愈2例,针灸配合康复治疗组基本治愈6例.结论:针灸配合康复训练治疗脑卒中后半身不遂疗效确切.%Objective:To observe and investigate the treatment of acupuncture combined with rehabilitation training for half - length -flabbiness after hemiplegic stroke clinical efficacy. Methods:60 patients with hemiplegic stroke were randomly into 3 groups,The acupuncture group,Rehebitlitation trailing group and acupuncture combined with rehabilition group;Results:During the 3months treatment, acupunture group recoverd3persons,rehabilitation grouprecoverd 2 persons,acuouncture combined rehabilition traning group recovred 6 persons;Conclusion;Acuouncture combined rehabilition traning is most effictive method to treat hemiplegic stroke.

  7. Effect of Constraint-induced Movement Therapy on Hemiplegic Cerebral Palsy in Occupational Therapy%强制性诱导运动在偏瘫型脑瘫患儿作业治疗中的应用

    Institute of Scientific and Technical Information of China (English)

    左月仙; 李爱霞; 杨花芳

    2011-01-01

    Objective To explore the effect of constraint-induced movement therapy on upper limbs of hemiplegic cerebral palsy in occupational therapy. Methods 30 children of hemiplegic cerebral palsy were divided into control group (n=15) and observation group (n=15). Both groups received conventional occupational therapy, the observation group received constraint-induced movement therapy additionally. Their upper limb function were assessed before and 6 months after treatment. Results The scores improved in both groups after treatment (P<0.05). The score were significantly higher in observation group than control group (P<0.0l). Conclusion Constraint-induced movement therapy can improve the upper limb function of hemiplegic cerebral palsy in occupational therapy.%目的 探讨强制性诱导运动疗法在偏瘫型脑瘫患儿上肢作业疗法中的疗效.方法 30例偏瘫型脑瘫患儿分为对照组(n=15)和观察组(n=15),两组均进行常规作业治疗,观察组在此基础上采用强制性诱导运动疗法,治疗前后对所有患儿上肢功能进行评定并比较.结果 两组患儿治疗后上肢功能评分较治疗前均明显提高(P<0.01),治疗组的评分高于对照组(P<0.05).结论 强制性诱导运动疗法可提高偏瘫型脑瘫患儿上肢作业治疗的康复疗效.

  8. Diagnosis and treatment of pulmonary hypertension caused by sleep hypoventilation: analysis of 4 cases in a family%睡眠低通气致肺动脉高压一家系四例临床分析

    Institute of Scientific and Technical Information of China (English)

    周敏; 崔小川; 钱秀芬; 袁民宇; 朱建荣; 陆明华; 陈志萍

    2008-01-01

    Objective To summarize the experience in diagnosis and treatment of pulmonary hypertension caused by sleep hypoventilation. Methods The clinical data of 4 patients in a family with pulmonary hypertension caused by sleep hypoventilation, full brothers and sisters, 2 (Cases 1 and 2) being treated presently and 2 (Cases 3 and 4) being deceased and traced by family medical history, were retrospectively analyzed. Results Three of the 4 cases (cases 1, 3, and 4) were misdiagnosed as with cor pulmonale combined with pulmonary hypertension, and one case (case 2) was misdiagnosed as with primary pulmonary hypertension. Polysomnography (PSG) revealed alveolar hypoventilation-indueed long period of oxygen desaturation at sleep in Cases 1 and 2, thus confirming the diagnosis. Pulmonary function test showed that the percentage of maximum inspiratory pressure (PImax) in predicted value (51.5% and 20. 9%) and the maximum expiratory pressure (PEmax) in predicted value (51.3% and 29. 6%) decreased, the percentage of mouth occlusion pressure (PO. 1) in predicted value (141% and 133%) compensatively increased, and the respiratory muscle strength decreased in Cases 1 and 2, which suggested that there was neuromuscular disorder in these patients. Treated by noninvasive ventilation the symptoms of these 2 patients were improved and they were discharge at last. Subsequently, they were treated by long-term night noninvasive ventilation at home, and returned to normal work and life. During the follow-up for 22 and 12 months respectively after discharge, PSG showed that the alveolar hypoventilation-induced long period oxygen desataration at sleep had been greatly improved, and echocardiogram showed that the pulmonary pressure was greatly decreased. Conclusion For the patients with unexplained pulmonary hypertension, PSG monitoring and pulmonary function tests such as Plmax, PEmax, and P0. 1 help determine the etiology, and long-term night noninvasive ventilation at home can improve the

  9. Effect of Community-based Rehabilitation on Typical Hemiplegic Gait Post Stroke%社区康复对脑卒中后典型偏瘫步态的疗效观察

    Institute of Scientific and Technical Information of China (English)

    罗峰; 马丹; 秦宏

    2011-01-01

    Objective To observe the effect of the ambulation training on the typical hemiplegic gait in community. Methods 50 stroke patients with typical hemiplegic gait were divided into two groups: treatment group was treated with systematic rehabilitation training, 5 times each week for 3 months, and control group accepted self-walking training. The follow-up was performed every week at home. The two groups were assessed by the timed "up & go" test, the Fugl-Meyer Assessment(FMA) and Satisfaction with Life Scale(SWLS). Results The scores of the timed "up & go" test, FMA, and SWLS showed that there weren't significant difference between the treatment group and the control group 1 month after treatment; but the scores in the treatment group were obviously higher than those in the control group 3 months after treatment. Conclusion Ambulation training could improve the typical hemiplegic gait and quality of walking of stroke patients with hemiplegic gait in community.%目的 观察社区康复中步行训练对脑卒中后典型偏瘫步态的疗效.方法 符合入选标准的50例脑卒中患者分为两组:治疗组25例,在社区医院接受系统的步行训练,每周5次,连续干预3个月;对照组25例,在家中自行步行训练,每周随访1次.分别在入组时和治疗1个月、3个月后进行"起立-行走"计时测试、Fugl-Meyer下肢运动功能评测及生活满意度评分(SWLS).结果 两组在治疗1个月后,"起立-行走"计时测试、Fugl-Meyer下肢运动功能评测、生活满意度评分无显著差异.治疗3个月后治疗组较治疗前有明显好转,并优于对照组(P<0.05).结论 在社区中开展步行训练能改善脑卒中后典型偏瘫步态,提高患者的步行质量.

  10. 脑卒中偏瘫患者下肢深静脉血栓的预防和护理%Prevention and nursing of lower extremity deep venous thrombosis in the hemiplegic patients after stroke

    Institute of Scientific and Technical Information of China (English)

    马海萍

    2014-01-01

    The pathogenic factors, clinical manifestation, prevention and nursing of lower extremity deep venous thrombosis in the hemiplegic patients after stroke were reviewed. The suggestions concerned prevention and nursing of the lower extremity deep venous thrombosis were proposed for the clinical nurses.%分析脑卒中偏瘫患者下肢深静脉血栓的形成因素、临床表现、预防及护理要点,为护理人员预防和护理脑卒中偏瘫患者下肢深静脉血栓形成提供参考。

  11. 脑卒中偏瘫上肢功能康复的技术与方法%Techniques and Approaches of Rehabilitation of Upper Limb Function in Hemiplegic Patients after Stroke (review)

    Institute of Scientific and Technical Information of China (English)

    梁天佳

    2012-01-01

    The incidence of upper limb dysfunction of stroke patients was high, and the recovery was difficult, which has serious impact on their activities of daily living and quality of life. This article reviewed the new techniques and methods for hemiplegic patients after stroke.%脑卒中后上肢功能障碍的发生率较高,而且恢复较为困难,严重影响患者日常生活能力和生活质量.本文对脑卒中后偏瘫上肢功能康复的新技术、新方法作一综述.

  12. Application of col ective gymnastics for hemiplegic rehabilitation to stroke patients with hemiplegia%集体偏瘫康复操在脑卒中偏瘫患者中的应用

    Institute of Scientific and Technical Information of China (English)

    蒋芙蓉; 李国民; 冯芳

    2014-01-01

    目的:探讨集体偏瘫康复操在脑卒中偏瘫患者中的应用效果。方法:将120例脑卒中患者按入院顺序随机分为对照组和治疗组各60例,对照组行针灸、理疗、偏瘫肢体康复训练等,治疗组在此基础上进行集体康复操训练。分别对两组入院时及康复操锻炼后1个月进行Fugl-Meyer 和生活自理能力评定(采用改良的Barthel量表)来评价康复操锻炼后上述参数的变化。结果:治疗组治疗后1个月Fugl-meye、Barthel指数与对照组比较差异有统计学意义( P<0.01)。结论:集体偏瘫康复操锻炼能改善脑卒中患者肢体功能,提高患者日常生活自理能力,改善其生活质量。%Objective:To investigate the application effect of collective gymnastics for hemiplegic rehabilitation to stroke patients with hemiplegia. Methods:120 patients with stroke were randomly divided into the control group and the treatment group( 60 cases in each group)according to the admission order. The patients in the control group received acupuncture,physiotherapy and rehabilitation training;the patients in the treatment group received additional collective gymnastics for hemiplegic rehabilitation. The Fugl-Meyer index and self-care ability of the patients were assessed in both groups respectively on admission and after receiving collective gymnastics for hemiplegic rehabilitation for one month. Results:There were statistically significant differences in the comparison of Fugl-meye and Barthel indexes between the two groups after treatment for one month(P<0. 01). Conclusion:The collective gymnastics for hemiplegic rehabilitation can improve the limb functions and the ability of ADL of patients with stroke so as to improve their quality of life.

  13. Effect of early rehabilitation training on the hemiplegic limbs of the patients with severe head injury%早期康复训练对重型颅脑损伤患者偏瘫肢体的影响

    Institute of Scientific and Technical Information of China (English)

    万继平

    2011-01-01

    Objective: To investigate the rehabilitation effect of early rehabilitation training on the hemiplegic limbs of the patients with severe head injury. Methods: 62 hemiplegic patients induced by severe head injury were randomly divided into an observation group and a control group ( 31 cases for each group ). The prescription was almost the same in the two groups, and the patients in the observation group were provided the rehabilitation training of limb function at the early stage of the disease ( brain edema stage ) and in the stable period of the patient's condition based on routine treatment and nursing care; the patients in the control group received routine treatment and nursing care and had random functional exercise. Results: The muscle strength recovery progress of the patient's hemiplegic limbs was significantly faster in the observation group than the control group ( P < 0.01 ). Conclusions: The early rehabilitation training can obviously reduce the degree of disability of the patients with hemiplegic limbs induced by severe head injury and markedly improve their quality of life.%目的:探讨早期康复训练对重型颅脑损伤偏瘫肢体的康复效果.方法:将62例重型颅脑损伤偏瘫患者随机分为观察组和对照组各31例,两组药物治疗基本相同,观察组按常规治疗护理的同时,于病情早期(脑水肿期)及病情稳定期分阶段进行肢体功能康复训练,对照组进行常规护理并随意进行功能锻炼.结果:观察组患者偏瘫肢体肌力恢复进展明显优于对照组(P<0.01).结论:对重型颅脑损伤偏瘫肢体进行早期康复训练可明显减轻患者偏瘫肢体的致残程度,显著提高患者的生活质量.

  14. Family Finance

    OpenAIRE

    Christopher Kobrak

    2008-01-01

    As Mira Wilkins has argued, there is a curious disconnect between business and financial history. (Wilkins, 2003) Whereas business history literature has rediscovered the importance of family business in many countries and in many sectors of contemporary commercial life, for example, little has been written about family banking as an alternative to joint-stock, management-run financial institutions. This lacuna is odd for many reasons. First, family banking is one of the best-known examples o...

  15. My Family

    Institute of Scientific and Technical Information of China (English)

    2012-01-01

    Everyone has a family.We live in it and feel very warm.There are three persons in my family,my mother,father and I.We live together very happily and there are many interesting stories about my family. My father is a hard-working man.He works as a doctor.He always tries his best to help every,patient and make patients comfortable.But sonetimes he works so hard

  16. Celibacy and Family Disruption

    OpenAIRE

    Emaletdinov B. M.

    2013-01-01

    Causes for celibacy, divorces and successful marriage are discussed in the article. Absence of true love and inability to build and keep it are the main reasons for family disruption. Amorousness, immature love and various forms of false or flawed love substitute the true feeling. It is caused by increased women’s independence, loss of mutual understanding and trust (due to infidelity or jealousy), incompatibility of characters or values. Celibacy is often conditioned by physical disability, ...

  17. Family literacy

    DEFF Research Database (Denmark)

    Sehested, Caroline

    2012-01-01

    I Projekt familielæsning, der er et samarbejde mellem Nationalt Videncenter for Læsning og Hillerød Bibliotek, arbejder vi med at få kontakt til de familier, som biblioteket ellers aldrig ser som brugere og dermed også de børn, der vokser op i familier, for hvem bøger og oplæsningssituationer ikke...... er en selvfølgelig del af barndommen. Det, vi vil undersøge og ønsker at være med til at udvikle hos disse familier, er det, man kan kalde family literacy....

  18. Character Causes and Educational Strategy of Rural Special Family Children%农村特殊家庭儿童的性格成因及教育策略

    Institute of Scientific and Technical Information of China (English)

    相玛玲

    2014-01-01

    The family is the cradle of child development,happy family is children shelter harbor,however,in recent years,the divorce rate is growing,more and more children in single parent families,as teachers,often with some unfortunate children to experience the lack of parental pain,these special family children compared to other children more or less,by the impact of the family,they have excellent blood, but the character is selfish and narrow-minded,jealous,poor self-esteem.%家庭是孩子成长的摇篮,幸福的家庭是孩子避风遮雨的港湾,然而,随着近些年离婚率的不断增长,单亲家庭的孩子越来越多,作为教师,时常要与一些不幸的孩子一起经历着缺少父母的苦痛,这些特殊家庭的孩子同其他孩子相比,或多或少都受到了家庭的影响,他们有的学业优秀,但性格自私狭隘,嫉妒心强,有的自尊心差。

  19. Familial pancreatic cancer.

    Science.gov (United States)

    Klein, A P; Hruban, R H; Brune, K A; Petersen, G M; Goggins, M

    2001-01-01

    Pancreatic cancer is the fourth leading cause of cancer death in both men and women in the United States and will be responsible for an estimated 28,900 deaths in 2001. Relatively little is known of its etiology, and the only well-established risk factor is cigarette smoking. Studies over the past 3 decades have shown that 4%-16% of patients with pancreatic cancer have a family history of the disease. A small fraction of this aggregation can be accounted for in inherited cancer syndromes, including familial atypical multiple-mole melanoma, Peutz-Jeghers syndrome, hereditary breast-ovarian cancer, hereditary pancreatitis, and hereditary nonpolyposis colorectal cancer. These syndromes arise as a result of germline mutations in the BRCA2, pl6 (familial atypical multiple-mole melanoma), mismatch repair (hereditary nonpolyposis colorectal cancer), and STK11 (Peutz-Jeghers syndrome) genes. In addition, hereditary plays a role in predisposing certain patients with apparently sporadic pancreatic cancer. Many patients with pancreatic cancers caused by a germline mutation in a cancer-causing gene do not have a pedigree that is suggestive of a familial cancer syndrome. A recent prospective analysis of the pedigrees in the National Familial Pancreatic Tumor Registry found that individuals with a family history of pancreatic cancer in multiple first-degree relatives have a high risk of pancreatic cancer themselves. The identification of such high-risk individuals will help clinicians target screening programs and develop preventive interventions with the hope of reducing the mortality of pancreatic cancer in these families.

  20. Acculturative Family Distancing (AFD) and Depression in Chinese American Families

    Science.gov (United States)

    Hwang, Wei-Chin; Wood, Jeffrey J.; Fujimoto, Ken

    2010-01-01

    Objective: Knowledge of acculturative processes and their impact on immigrant families remains quite limited. Acculturative family distancing (AFD) is the distancing that occurs between immigrant parents and their children and is caused by breakdowns in communication and cultural value differences. It is a more proximal and problem-focused…

  1. 脑卒中偏瘫早期综合理疗分析%Early comprehensive physiotherapy therapy for hemiplegic stroke

    Institute of Scientific and Technical Information of China (English)

    徐会彬; 陈昱甫; 彭圆圆

    2014-01-01

    Objective To evaluate the methods and prognosis of different early physiotherapy therapy for stroke hemiplegia. Methods Selected 72 cases of hemiplegic stroke from September 2010 to December 2013 in our hospital, accorded to the principle of random draw were divided into treatment group and control group of 36 cases, the control group used conventional rehabilitation therapy, the treatment group received low-frequency current management therapy, all patients were treated with conventional drugs and behavioral interventions, the rehabilitation period were 1 month. Results The daily living ability of the two groups after rehabilitation were significantly improved compared to significant differences (P < 0.05), while the treatment group' scores were also significantly higher compared to the control group(P < 0.05). After the intervention, the physiology function, physiological function, bodily pain, general health, social function and emotional function scores of the treatment group were significantly higher, compared to significant differences(P < 0.05). Conclusion Low-frequency current management therapy applied to the early rehabilitation of stroke hemiplegic migraine can effectively improve their daily living skills, thereby enhance the quality of life outcomes.%目的:评价脑卒中偏瘫早期不同理疗方法与预后效果。方法2010年9月~2013年12月选择在我院进行理疗康复的脑卒中偏瘫患者72例,根据随机抽签原则分为治疗组与对照组各36例,对照组采用常规康复理疗,治疗组给予低频电流理疗法,所有患者都给予常规药物与行为干预,康复周期为1个月。结果两组干预后的日常生活能力都明显提高,评分与干预前对比差异有统计学意义(P<0.05),同时干预后治疗组评分也明显高于对照组(P<0.05)。干预后治疗组的生理机能、生理职能、躯体疼痛、总体健康、社会功能和情感职能评分明显高于对照组,

  2. Dual-career family as an exampleof egalitarian family

    Directory of Open Access Journals (Sweden)

    Joanna Ostrouch-Kamińska

    2011-11-01

    Full Text Available The economic, cultural, and social transformation, growth of women's economic strength as well as the level of their education, and development of ideas of equal rights of women and men on the labour market and in social life cause changes in gender relation in the family. Poles more and more often declare and support egalitarian family, and a new model of a family appears among existing ones – dual-career family.The main aim of the article is to consider the sources of its rise, description of gender positions in marital relation, the division of tasks and responsibilities, possible dilemmas and conflicts, but also emotional, intellectual and social advantages. The analysis were put into context of changes in defining and describing family, and also in context of different family discourses. One of them was underlined the most – egalitarian one as the most approximate to the way of defining and understanding dual-career family model.

  3. Family matters

    DEFF Research Database (Denmark)

    Kieffer-Kristensen, Rikke; Siersma, Volkert Dirk; Teasdale, Thomas William

    2013-01-01

    scores for the children. For the adjusted associations, we again found the family stress variables in the healthy spouse to be related to the risk of emotional and behavioral problems in the children. CONCLUSIONS: The present results suggest that in ABI families, the children’s emotional functioning......OBJECTIVES: To relate illness and family factors to emotional and behavioural problems in school-age children (7–14 years old) of parents with acquired brain injury and their healthy spouses. PARTICIPANTS, MATERIALS/METHODS: Members of 35 families in which a parent had been diagnosed with acquired...... brain injury participated. Family and brain injury characteristics were reported by the ill and healthy parents. Children self-reported post-traumatic stress symptoms (PSS) using the Child Impact of Events revised (CRIES). Emotional and behavioural problems among the children were also identified...

  4. 浅析流动人口子女家庭教育问题成因及对策——基于社会保障理论视角%Analysis of Causes and Solutions of Family Education Problem of Children of Floating PopulationBased on the Angle of Social Security Theory

    Institute of Scientific and Technical Information of China (English)

    王炳锐; 吴莹

    2012-01-01

    流动人口子女家庭教育问题是人口涌入城市、组成家庭后必然出现的教育问题,也是一种社会问题。实际上,家庭保障既是导致问题形成的直接因素,又是社会保障的一部分。文章仅从社会保障理论视角具体分析流动人口子女家庭教育问题成因,并拟从家庭保障、住房保障和教育救助等不同角度,解读社会保障如何为流动人口子女的家庭教育护航——即提出问题解决对策。%The family education problem of children of floating population is an educational problem which inevitably emerges after population's flowing over into cities and forming families, which is also a kind of social problem. Actually, family security is a direct cause of the problem, as well as one part of social security. This paper analyzes causes of family education problem of children of floating population from the angle of social security theory, and plans to interpret how social security convoys for family education of children of floating population, i.e. proposing solutions from different angles of family security, housinR security and education aid.

  5. Advance in Rehabilitation of Upper Limb Function in Hemiplegic Patients after Stroke (review)%脑卒中后上肢功能康复研究进展

    Institute of Scientific and Technical Information of China (English)

    何雯; 王凯

    2014-01-01

    脑卒中后上肢功能障碍的发生率较高,而且恢复较为困难,严重影响患者的日常生活能力和生活质量。本文对脑卒中后偏瘫上肢功能康复治疗技术及方法进展进行综述。主要的康复技术和方法有双侧上肢训练、镜像疗法、体操棒训练方法、音乐疗法、运动想象疗法、上肢康复机器人、虚拟现实游戏、强制性使用运动疗法、功能性电刺激、肌电生物反馈疗法、经颅磁刺激和神经肌肉促进技术等。%The incidence of upper limb dysfunction of stroke patients was high, and the recovery was difficult, which seriously impact-ed their activities of daily living and quality of life. This article reviewed the new techniques and methods for hemiplegic patients after stroke. The main techniques and methods includeed bilateral isokine-matic training, mirror neuron system, gymnastics rods training, music therapy, motor imagery, upper limb rehabilitation robot, virtual reality, constraint induced movement therapy, functional electrostimulation, electromyographic biofeedback therapy, transcranial magnetic stimulation, neurophyisological therapy and so on.

  6. Subcutaneous phaeohyphomycosis in a patient with IgG4-related sclerosing disease caused by a novel ascomycete, Hongkongmyces pedis gen. et sp. nov.: first report of human infection associated with the family Lindgomycetaceae.

    Science.gov (United States)

    Tsang, Chi-Ching; Chan, Jasper F W; Trendell-Smith, Nigel J; Ngan, Antonio H Y; Ling, Ian W H; Lau, Susanna K P; Woo, Patrick C Y

    2014-10-01

    No members of the freshwater ascomycetes family Lindgomycetaceae have been associated with human infections. We isolated a mould (HKU35(T)) from the biopsy specimen of a patient with invasive foot infection and underlying immunoglobulin G4-related sclerosing disease. Histology showed florid, suppurative, granulomatous inflammation in the dermis, with central microabscess formation surrounded by epithelioid histiocytes, scattered giant cells, and a small number of lymphocytes. A Grocott stain revealed fungal elements in the center of the lesion. On Sabouraud glucose agar, HKU35(T) grew as gray and velvety colonies. Among the members of the family Lindgomycetaceae, HKU35(T) was the only strain that grew at 37°C. Microscopically, only sterile mycelia, but no fruiting bodies, were observed. HKU35(T) was susceptible to itrazonazole, voriconazole, and posaconazole, which was in line with the patient's clinical response to itraconazole treatment. Internal transcribed spacer and partial 18S nuclear rDNA (nrDNA), 28S nrDNA, β-tubulin gene, and EF1α gene sequencing showed that HKU35(T) occupied a unique phylogenetic position, most closely related to but distinct from members of the genera Clohesyomyces and Lindgomyces. We propose a new genus and species, Hongkongmyces pedis gen. et sp. nov., to describe this fungus, which belongs to the family Lindgomycetaceae in the orderPleosporales of class Dothideomycetes. This case also represents the first report of human infection associated with the family Lindgomycetaceae. PMID:25147085

  7. MOTOmed智能运动训练对脑卒中偏瘫患者步行能力的影响%Effect of Motomed Intelligent Movement Training on Walking Ability in Hemiplegic Stroke Patients

    Institute of Scientific and Technical Information of China (English)

    张军; 邱智; 潘冠文; 邵秀芹

    2014-01-01

    Objective To investigate the effect of routine rehabilitation training combined with MOTOmed intelligent movement training on walking ability in hemiplegic stroke patients. Methods Sixty-nine hemiplegic stroke patients receive routine rehabilitation training alone (control group,n=31) or in combination with MOTOmed intelligent movement training(treatment group,n=38).Walking ability was assessed with the Functional Ambulation Categories (FAC) after treatment for 8 weeks. Results There were no significant differences in FAC scores between the two groups before treatment (P>0.05). After 8 weeks of treatment, FAC scores significantly increased in both groups(P0.05);经8周治疗后,2组FAC评分较治疗前均明显增加(P<0.01),且治疗组较对照组FAC评分增加更明显(P<0.05)。结论 MOTOmed智能运动训练在抑制偏瘫侧肢体痉挛的同时进行肌力训练,可有效恢复脑卒中患者的步行能力。

  8. FAMILY RHAGIONIDAE.

    Science.gov (United States)

    Santos, Charles Morphy D; Carmo, Daniel D D

    2016-01-01

    The family Rhagionidae is one of the oldest Brachyeran lineages. Its monophyly is still uncertain. There are four rhagionid genera distributed in Neotropical Region but only three species of Chrysopilus are found in Colombia. PMID:27395270

  9. FAMILY PIOPHILIDAE.

    Science.gov (United States)

    Wolff, Marta; Pérez, Sandra; Grisales, Diana

    2016-01-01

    Piophilidae is a little family poorly known in Colombia, with only Piophila casei (L.) and Stearibia nigriceps Meigen reported so far. This catalogue expands the distribution of these species to other localities in the country. PMID:27395294

  10. Family History

    Science.gov (United States)

    ... to your relatives about their health. Draw a family tree and add the health information. Having copies of medical records and death certificates is also helpful. Centers for Disease Control and Prevention

  11. Familial hypercholesterolemia

    Science.gov (United States)

    ... hypercholesterolemia or early heart attacks High level of LDL cholesterol in either or both parents People from families ... called fibroblasts to see how the body absorbs LDL cholesterol Genetic test for the defect associated with this ...

  12. Family Business

    OpenAIRE

    UNAI ARTECHE

    2003-01-01

    Family Business, Pitzhanger Manor. Curated by Danielle Arnaud and Matthew Poole. The artists in the exhibition explore how their 'authorship' or 'individuality' is expressed as images. Here, artworks are produced that deal with the public face of the personal, private or local. In brief, the thematic of this exhibition is interested in the consequence and legitimacy of 'individual choice' as a genre or style. Hence, Family Business looks to artworks that claim, utilise and reflect upon lan...

  13. The study on the coping with fatigue, family cohesion, adaptability in patients suffered high paraplegia caused by cervical spine fracture%颈椎骨折高位截瘫患者的应对疲惫家庭亲密度和适应性研究

    Institute of Scientific and Technical Information of China (English)

    陶伟萍; 毛巧燕; 杨建萍

    2014-01-01

    目的 探讨家庭亲密度和适应性对颈椎骨折并高位截瘫患者应对疲惫的影响.方法 采用家庭亲密度和适应性量表、简明疲惫评估量表对96例颈椎骨折并高位截瘫患者患者进行问卷调查,分成疲惫组和非疲惫组,比较两组家庭亲密度和适应性的差别,并采用pearson相关性分析和多元线性回归分析探讨家庭亲密度和适应性对应对疲惫的影响.结果 ①96例截瘫患者中,63例处于应对疲惫状态,发病率为65.63%.②疲惫组实际亲密度和实际适应性评分均显著低于非疲惫组,亲密度不满意程度和适应性不满意程度评分均显著高于非疲惫组,均差异有统计学意义(t=-2.630,-3.359,10.469,17.821,P<0.05).③应对疲惫与实际亲密度(r=-0.463,P=0.015)、实际适应性(r=-0.486,P=0.021)均显著负相关,与亲密度不满意程度(r=0.395,P=0.036)、适应性不满意程度(r=0.524,P=0.020)均显著正相关.④多元回归分析显示,实际亲密度、实际适应性、亲密度不满意程度和适应性不满意程度均为颈椎骨折并高位截瘫患者应对疲惫的影响因素.结论 家庭亲密度和适应性下降是颈椎骨折并高位截瘫患者应对疲惫的重要原因.%Objective To explore the effect of family cohesion and adaptability on coping with fatigue in patients suffered high paraplegia caused by cervical spine fracture.Methods 96 patients suffered high paraplegia caused by cervical spine fracture were questionnaired by family cohesion and adaptability scale and bricf fatiguc assessment scale after 1 week of operation.And they were divided into the fatigue group and non-fatigue group,the scores of family cohesion and adaptability were compared between the two groups,and thepearson correlation analysis and multivariate linear regression analysis were used to explore the effect of family cohesion and adaptability on coping with fatigue.Results ①65.63% (63/96) patients suffered coping with fatigue

  14. Sensory feedback to ankle plantar flexors is not exaggerated during gait in spastic hemiplegic children with cerebral palsy

    DEFF Research Database (Denmark)

    Willerslev-Olsen, Maria; Andersen, Jacob Buus; Sinkjær, Thomas;

    2014-01-01

    It is commonly assumed that exaggerated stretch reflex activity and the resulting increased muscle tone in ankle plantar flexors contribute to reduced ankle joint movement during gait in children with cerebral palsy (CP). We investigated the contribution of sensory feedback mechanisms to ankle...... in a similar proportion in both groups. Shortening of the plantar flexors in swing caused a larger drop in Soleus EMG in control children than in children with CP. The lack of age related decline in stretch reflexes in the stance phase and the inability to suppress the reflex in the swing phase is likely...

  15. Familial Chiari malformation: case series.

    Science.gov (United States)

    Schanker, Benjamin D; Walcott, Brian P; Nahed, Brian V; Kahle, Kristopher T; Li, Yan Michael; Coumans, Jean-Valery C E

    2011-09-01

    Chiari malformations (Types I-IV) are abnormalities of the posterior fossa that affect the cerebellum, brainstem, and the spinal cord with prevalence rates of 0.1%-0.5%. Case reports of familial aggregation of Chiari malformation, twin studies, cosegregation of Chiari malformation with known genetic conditions, and recent gene and genome-wide association studies provide strong evidence of the genetic underpinnings of familial Chiari malformation. The authors report on a series of 3 family pairs with Chiari malformation Type I: 2 mother-daughter pairs and 1 father-daughter pair. The specific genetic causes of familial Chiari malformation have yet to be fully elucidated. The authors review the literature and discuss several candidate genes. Recent advances in the understanding of the genetic influences and pathogenesis of familial Chiari malformation are expected to improve management of affected patients and monitoring of at-risk family members.

  16. On the Astrid asteroid family

    CERN Document Server

    Carruba, V

    2016-01-01

    Among asteroid families, the Astrid family is peculiar because of its unusual inclination distribution. Objects at $a\\simeq$~2.764 au are quite dispersed in this orbital element, giving the family a "crab-like" appearance. Recent works showed that this feature is caused by the interaction of the family with the $s-s_C$ nodal secular resonance with Ceres, that spreads the inclination of asteroids near its separatrix. As a consequence, the currently observed distribution of the $v_W$ component of terminal ejection velocities obtained from inverting Gauss equation is quite leptokurtic, since this parameter mostly depends on the asteroids inclination. The peculiar orbital configuration of the Astrid family can be used to set constraints on key parameters describing the strength of the Yarkovsky force, such as the bulk and surface density and the thermal conductivity of surface material. By simulating various fictitious families with different values of these parameters, and by demanding that the current value of ...

  17. Correlation between plantar pressure and walking ability in hemiplegic stroke survivors%脑卒中患者足底压力与步行能力的相关性分析

    Institute of Scientific and Technical Information of China (English)

    岳童; 倪朝民; 刘孟; 陈进; 杨洁; 尹傲冉; 王丽

    2015-01-01

    目的 探讨脑卒中后偏瘫患者的足底压力与步行能力(步速)之间的关系.方法 选取脑卒中偏瘫患者30例作为偏瘫组,与其相匹配的健康中老年人30例作为对照组,均采用步态与平衡功能评估系统进行步态检测和分析,获取步速、首次触地期和蹬离期的足底压力峰值、单支撑相压力中心位移(DCOP),并计算上述各项参数的不对称性,用两独立样本t检验分析比较2组各参数的差异,用Pearson相关性分析法分析步速与足底压力峰值及DCOP之间的相关程度.结果 ①偏瘫组患者的步速明显慢于对照组[(0.32±0.26)m/s vs (0.82 ±0.35)m/s,P<0.05];②与对照组相比,偏瘫组双下肢首次触地期的足底压力峰值[患侧(2.26±0.89) kg/cm2,健侧(3.02±0.27) kg/cm2]及患侧下肢蹬离期的足底压力峰值(3.67±1.52) kg/cm2]均明显下降,单支撑相矢状面的DCOP[患侧(3.24 ±3.65) cm,健侧(4.18 ±4.12) cm]亦减小,组间差异均有统计学意义(P<0.05);③偏瘫组足蹬离期、首次触地期的足底压力峰值和矢状面DCOP(DCOPx)的不对称性均较对照组增大(P<0.05),而冠状面DCOP(DCOPy)的不对称性与对照组比较,差异无统计学意义(P>0.05);④应用Pearson相关分析显示,偏瘫患者的步速与双侧下肢的首次触地期、蹬离期的压力峰值及DCOP均呈正相关(r=0.666 ~0.950,P<0.01).结论 脑卒中偏瘫患者双侧足底压力峰值较健康人均有所下降,步行中的重心转移能力下降,且与步行能力(步速)之间有一定的相关性.%Objective To explore the correlation between plantar pressure and walking function in hemiplegic stroke patients.Methods Thirty hemiplegic patients with stroke (a hemiplegic group) and thirty age-matched healthy persons (a control group) were recruited.Gait and balance function training and assessment system (model:AL-600) were used to quantify the walking velocity,peak plantar pressure at heel-strike and push-off periods

  18. Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type I in two families

    Energy Technology Data Exchange (ETDEWEB)

    Lalwani, A.K.; Brister, J.R.; Fex, J.; Grundfast, K.M.; Ploplis, B.; San Agustin, T.B.; Wilcox, E.R. [National Institute on Deafness and Other Communication Disorders, Bethesda, MD (United States)

    1995-01-01

    Waardenburg syndrome is an autosomal dominant disorder characterized by sensorineural deafness and pigmentary disturbances. Previous work has linked the disease to PAX3 on chromosome 2, and several mutations within the highly conserved paired-box and octapeptide motifs, but not the homeobox, have been reported. In this report, we have used the published cDNA sequence to further define the genomic structure of PAX3, using inverse PCR. We have identified exon/intron boundaries between exons 5 and 6 and between exons 6 and 7. Further, we have identified the first two mutations within the homeobox in two different families with type 1 Waardenburg syndrome. The first is a point mutation (G{yields}T) at the first base of exon 6, which substitutes phenylalanine for valine. In another family, we have identified a point mutation (C{yields}G) within the homeobox, in exon 6, which substitutes a glycine for arginine at a highly conserved site. The homeodomain is important in binding of DNA and in effecting transcriptional control. These mutations likely result in structural change within the homeodomain that either change the DNA-binding specificity of the homeodomain or reduce the affinity of the PAX3 protein for DNA. These homeodomain mutations should aid in elucidating the role of the homeodomain in the function of the PAX3 protein. 46 refs., 5 figs., 2 tabs.

  19. Familial neurohypophyseal diabetes insipidus

    DEFF Research Database (Denmark)

    Kvistgaard, Helene

    2011-01-01

    Familial neurohypophyseal diabetes insipidus (FNDI) is characterized by severe low-solute polyuria and polydipisa. The disease is caused by a deficient neurosecretion of the antidiuretic hormone arginine vasopressin (AVP). The hormone is normally synthesized by the magnocellular neurons in the pa......Familial neurohypophyseal diabetes insipidus (FNDI) is characterized by severe low-solute polyuria and polydipisa. The disease is caused by a deficient neurosecretion of the antidiuretic hormone arginine vasopressin (AVP). The hormone is normally synthesized by the magnocellular neurons...... as one sporadic case of early-onset diabetes insipidus. Genetic testing of the sporadic case of diabetes insipidus revealed a highly unusual mosaicism for a variation in the gene encoding the AVP receptor (AVPR2). This mosaicism had resulted in a partial phenotype and initial diagnostic difficulties...

  20. Family business

    OpenAIRE

    KLUZÁKOVÁ, Lucie

    2009-01-01

    This thesis focuses on family business companies and above all on their problem of succession planning. For the purposes of this work, I have chosen a family business company that is owned by two shareholders. Both shareholders are going to leave the company within next 5 to 10 years. The thesis deals with the succession plan of both shareholders and this concerning the rate of preparedness as well as the rate of coordination of both plans. Prior to the research, two hypotheses were fixed. Th...

  1. Family therapy.

    OpenAIRE

    Shaikh Altamash

    1987-01-01

    Another major force not letting us succeed in the treatment of diabetes remains right inside the patients home, their family members. Hence, it is important to know the perception of the close family members about this simple and strong tool in diabetes, ′insulin′. The drug is nearing its century, it has not fully being accepted gracefully even in todays electronic savvy society. So, we need to strongly discover the reason for its non-acceptance, while trials are out inventing new drugs. One ...

  2. Celibacy and Family Disruption

    Directory of Open Access Journals (Sweden)

    Emaletdinov B. M.

    2013-01-01

    Full Text Available Causes for celibacy, divorces and successful marriage are discussed in the article. Absence of true love and inability to build and keep it are the main reasons for family disruption. Amorousness, immature love and various forms of false or flawed love substitute the true feeling. It is caused by increased women’s independence, loss of mutual understanding and trust (due to infidelity or jealousy, incompatibility of characters or values. Celibacy is often conditioned by physical disability, revaluation of freedom and independence, huge requirements to partners, consumer attitude to life, infertility, alcohol and drug abuse, abnormalities in personality and sexuality.

  3. 音乐疗法对脑卒中偏瘫患者肢体运动功能的影响%The Effects of Music Therapy on Motor Function and ADL in the HemipLegic Patients with Stroke

    Institute of Scientific and Technical Information of China (English)

    宋涛; 许光旭; 龙丽华; 符鲲; 李辉萍; 陶希; 张付秀

    2013-01-01

    Objective To investigate the effects of music therapy on the limbs motor function and activity of daily living(ADL) in the hemipLegic patients with stroke. Methods A randomly case control study approach was conducted. Thirty nine hemiplegic patients with storke were randomly divided into experiment group(n=20) and control group (n=19).All patients were treated with routine rehabilitatinon training. Those patients In experiment group were treated with music therapy additionally. All patients were assessed by Fugl-Meyer assessment(FMA) and Modified Barthel Index(MBI) before and after 4-week therapy. Result After 4 weeks treatment in both groups, FMA and MBI scores improved significantly compared with anterior treatment(P<0.01). Meanwhile, FMA and MBI scores in experimental group increased outstanding higher than control group(P<0.01). Conclusion Music therapy can improve the limbs motor function and ADL in the hemiplegic patients with stroke.%目的:探讨音乐疗法对脑卒中偏瘫患者肢体运动功能和日常生活活动(ADL)能力的影响。方法采用随机病例对照方法,将入选的39例脑卒中患者随机分为治疗组(n=20)和对照组(n=19),治疗组音乐疗法进行干预。入选时和治疗4周后,用Fugl-Meyer运动功能评分方法和改良巴氏指数评定患者的肢体运动功能和ADL能力。结果同组间治疗前后比较,FMA和MBI均有明显改善,差异有显著性意义(P<0.01),治疗后治疗组与对照组之间的FMA和MBI值比较差异有显著性意义(P<0.01)。结论音乐疗法可明显地促进脑卒中偏瘫患者肢体运动功能和ADL能力恢复。

  4. Effect of balance training on walking ability of hemiplegic patients with ischemic cerebrovascular disease%平衡训练对缺血性脑血管病偏瘫患者步行能力的影响

    Institute of Scientific and Technical Information of China (English)

    朴明爱

    2015-01-01

    目的:探讨平衡训练对缺血性脑血管病偏瘫患者步行能力的影响。方法:选取2011年10月~2014年6月于本院进行治疗的78例缺血性脑血管病偏瘫患者分为对照组39例和观察组39例,对照组患者给予常规康复训练,观察组患者在常规康复训练基础上给予Biodex平衡功能分析训练仪进行训练,对比观察2种康复治疗对于患者步行能力的影响情况。结果:2组患者治疗后FMA、BBS、MBI和FAC与治疗前比较均有明显改善,P<0.05,差异具有统计学意义;观察组各项指标改善幅度明显优于对照组,P<0.05,差异具有统计学意义。结论:平衡训练对缺血性脑血管病偏瘫患者步行能力提高有显著效果,值得临床推广应用。%Objective:To investigate the effect of balance training on walking ability of hemiplegic patients with ischemic cerebrovas-cular disease.Methods:from 2011 October to 2014 June,78 cases with hemiplegic patients with ischemic cerebral vascular disease in our hospital was divided into a control group(39 cases) and observation group(39 cases);patients were given conventional rehabilitation train-ing in control group, and in the observation group,patients was given Biodex balance function training analysis training instrument on the basis of conventional rehabilitation training.Walking ability were compared between two groups.Results:compared before and after treat-ment, FMA, BBS, MBI and FAC were improved significantly in two groups, P <0.05, the difference had statistical significance.The observation group each index improved significantly better than the control group, P <0.05, with significant difference.Conclusion:balance training on walking ability in hemiplegic patients with ischemic cerebrovascular disease had a significant effect, it is worthy of clin-ical application.

  5. Effect of Low-speed Treadmill Training on Hemiplegic Patients after Stroke%慢速活动平板训练对脑卒中偏瘫患者下肢功能的影响

    Institute of Scientific and Technical Information of China (English)

    李立; 刘建华; 张辉; 杜水英

    2011-01-01

    目的 探讨慢速活动平板训练对脑卒中偏瘫患者下肢功能的影响.方法 脑卒中偏瘫患者26例分成治疗组14例及对照组12例.两组患者均给予常规康复训练,治疗组在此基础上进行3个月慢速活动平板训练.分别于治疗前后进行Fugl-Meyer运动功能评定(FMA)、Berg平衡量表(BBS)评定,10m最大步行速度、自由步行速度及6min步行距离测定.结果 治疗后,两组患者FMA、BBS评分,10m最大步行速度、自由步行速及6 min步行距离均比治疗前提高(P<0.05),治疗组FMA、BBS评分,10m自由步行速度及6 min步行距离优于对照组(P<0.05).结论 慢速活动平板训练能改善脑卒中偏瘫患者步行功能及平衡能力.%Objective To investigate the effect of low-speed treadmill training on function of lower limbs in hemiplegic patients after stroke. Methods 26 hemiplegic patients after stroke were divided into the treatment group (n=14) and control group (n=12). Both groups accepted routine rehabilitation, and the treatment group accepted low-speed treadmill training in addition. They were evaluated with Fugl-Mey-er Assessment (FMA), Berg Balance Scale (BBS), 6-min walk distance, 10-m walking speed before and after treatment. Results The scores of FMA and BBS, and the distance of 6-min walk, speed of 10-m walking improved in both groups (P<0.05), and improved more in the treatment group than in the control group (P<0.05) after 3-mouth treatment. Conclusion Low-speed treadmill training can significantly improve walk ability and balance function of the hemiplegic patients after stroke.

  6. Effects of weight relieving ambulator on walking function of hemiplegic patients with cerebral stroke%减重步态机器人对脑卒中偏瘫患者步行功能的影响

    Institute of Scientific and Technical Information of China (English)

    程明; 崔微; 王雪梅; 余茜

    2013-01-01

    目的 研究步态机器人训练对脑卒中偏瘫患者运动功能的影响.方法 将50例偏瘫患者分为2组,综合康复组行常规康复及减重步态机器人治疗,普通康复组行单纯康复治疗,疗程均为一个月,采用Carr-Shepherd运动功能评定(MAS)中的步行评定法对两组步行能力及临床疗效进行评定并且比较.结果 综合康复组患者步行能力较普通康复组改善明显,总有效率明显高于普通康复组(P<0.05).结论 减重步态机器人对偏瘫患者的恢复步行能力及改善异常步态有积极的作用.%Objective To study the effects of weight relieving ambulator on walking function of hemiplegic patients suffered from cerebral stroke. Methods Fifty hemiplegic patients were randomly divided into two groups: the comprehensive rehabilitation group and the general rehabilitation group. The comprehensive rehabilitation group was treated in the conventional method combined with weight relieving ambulator, while the general rehabilitation group was treated with the conventional method only. The period of treatment was one month. After treatment, the Carr-Shepherd assessment of motor function ( MAS ) was used to compare the walking function between the two groups. Results Patients of the comprehensive rehabilitation group had more improvements in walking ability than those of the general rehabilitation group did. Conclusion It is concluded that the weight relieving ambulator has a positive effect on the improvement of walking ability and abnormal gait of hemiplegic patients.

  7. 节奏性听觉刺激对脑卒中偏瘫患者步态的效果%Effect of Rhythmic Auditory Stimulation on Gait of Stroke Hemiplegic Patients

    Institute of Scientific and Technical Information of China (English)

    张玉阁; 张通; 刘丽旭

    2016-01-01

    Objective To observe the effect of rhythmic auditory stimulation (RAS) on gait of stroke hemiplegic patients. Methods From April, 2014 to April, 2015, eleven stroke hemiplegic patients were divided into RAS group (n=6) and control group (n=5) randomly. Both groups accepted routine rehabilitation, and the RAS group accepted RAS walking exercise, while the control group accepted verbal in-structed walking exercise. They were tested with Brunnstrom's Stage and gait analysis before and three weeks after training. Results There was no significant increase in Brunnstrom's Stage (Z0.05) in both groups after training. The RAS group increased in stride length, velocity and cadence (t>4.829, P0.05). Conclusion Walking exercise under RAS facilitates to improve gait in stroke hemiplegic patients.%目的:探讨在患者进行步行训练时给予节奏性听觉刺激(RAS),对脑卒中偏瘫患者步态的影响。方法2014年4月~2015年4月,11例脑卒中偏瘫患者随机分为试验组(n=6)和对照组(n=5)。在常规康复训练基础上,试验组接受RAS步行训练,对照组接受口头指令步行训练。分别于训练前及训练3周后用Brunnstrom分期、步态分析对患者进行评定。结果训练后,试验组和对照组Brunnstrom分期均无明显变化(Z0.05);试验组跨步长、步速、步频明显提高(t>4.829, P0.05)。结论 RAS步行训练有助于改善脑卒中偏瘫患者步态。

  8. 康复机器人训练对脑卒中偏瘫患者上肢功能的影响%Effect of rehabilitation robot on upper extremity function of hemiplegic patients

    Institute of Scientific and Technical Information of China (English)

    龙耀斌

    2012-01-01

    Objective: To observe the effect of the upper limb rehabilitation robot combined with conventional rehabilitation on upper extremity function of hemiplegic patients. Methods: 80 cases of hemiplegic upper limb dysfunction were divided into two groups. Both groups were given normal limb function training, at the same time the treatment group was given the upper iitnb rehabilitation robot training. Modified ashworth scale (MAS) score, simplified Fugl-Meyer upper limb motor function (FMA) score and the modified Barthel index (MBI) were compared before and after the treatment. Results: After 1 month of treatment, MAS scores in two groups were decreased as compared with those before treatment (F<0. 05), and those in treatment group was reduced as compared with control group (P<0. 05). FMA and ADL in two groups after treatment were improved as compared with those before treatment(Phemiplegic patients, but also can promote the recovery of activities of daily living.%目的:探讨上肢康复机器人训练结合常规康复治疗对脑卒中偏瘫患者上肢功能的影响.方法:80例脑梗死患者随机分为2组,均接受基础药物治疗和常规康复治疗;观察组增加上肢康复机器人训练.治疗前后分别进行上肢肌张力改良Ashworth量表(MAS)评分、上肢运动功能(FMA)评分及改良Barthel指数(MBI)评定.结果:治疗1个月后,2组患者上肢MAS评分均较治疗前明显下降(P<0.05),且观察组更低于对照组(P<0.05);FMA及改良Barthel指数(MBI)评分均较治疗前明显提高(P<0.05),且观察组较对照组更加显著(P<0.05).结论:上肢康复机器人训练结合常规康复治疗不仅能改善脑梗死患者上肢功能,而且能促进日常生活活动能力的恢复.

  9. FAMILY ROPALOMERIDAE.

    Science.gov (United States)

    Ale-Rocha, Rosaly

    2016-01-01

    Ropalomeridae is a small family with most species distributed in the Neotropical Region, from Mexico to Argentina, and only one Nearctic species. In Colombia, eight species distributed in four genera have been found. This catalogue, based on the study of specimens and available literature records, summarizes and updates the information on the Colombian fauna. PMID:27395300

  10. Familial hyperamylasemia

    Directory of Open Access Journals (Sweden)

    Koda Yu Kar Ling

    2002-01-01

    Full Text Available A 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family members were normal in his father and maternal grandmother but elevated in his mother, sister, maternal aunt, and uncle, all of whom asymptomatic. Macroamylasemia was excluded in the child and in the mother. The finding of persistently elevated amylasemia in the child and in the other family members spanning 3 generations, and the exclusion of diseases that lead to hyperamilasemia are consistent with the diagnosis of familial hyperamylasemia. Until now, only 1 similar case has been reported. Familial hyperamylasemia must be considered in the differential diagnosis of hyperamylasemias in childhood.

  11. Familial hyperamylasemia.

    Science.gov (United States)

    Koda, Yu Kar Ling; Vidolin, Eliana

    2002-01-01

    A 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family members were normal in his father and maternal grandmother but elevated in his mother, sister, maternal aunt, and uncle, all of whom asymptomatic. Macroamylasemia was excluded in the child and in the mother. The finding of persistently elevated amylasemia in the child and in the other family members spanning 3 generations, and the exclusion of diseases that lead to hyperamilasemia are consistent with the diagnosis of familial hyperamylasemia. Until now, only 1 similar case has been reported. Familial hyperamylasemia must be considered in the differential diagnosis of hyperamylasemias in childhood. PMID:11981589

  12. Family Circle

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Foster care is conducive to giving orphaned children a better life For most children living in orphanages, having a real home is just a pipe dream. Although they may be well looked after, receive a good education and proper nutrition, the love and care that come from being part of a real family just aren't there.

  13. Finding Family

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    Discovering her birth parents was an exciting adventure for a 15-year-old girl It took 14 years-and just two minutes-for an adopted Chinese girl to find her biological family.July 21 this year marked the first

  14. Family Hypnotherapy.

    Science.gov (United States)

    Araoz, Daniel L.; Negley-Parker, Esther

    1985-01-01

    A therapeutic model to help families activate experiential and right hemispheric functioning through hypnosis is presented in detail, together with a clinical illustration. Different situations in which this model is effective are mentioned and one such set of circumstances is described. (Author)

  15. Application of trans-theoretical model of behavior in ambulation training of stroke hemiplegic patients%行为转变理论在脑卒中偏瘫患者步行训练中的应用

    Institute of Scientific and Technical Information of China (English)

    张艳; 陈剑苹; 蒋辛

    2015-01-01

    Objective To study the effect of trans-theoretical model of behavior on ambulation training in stroke hemiplegic patients. Methods Sixty hospitalized stroke hemiplegic patients from June to December 2013 were selected as control group. The control group was treated with routine nursing and ambulation training guidance. Sixty-two hospitalized stroke hemiplegia patients, from January 2014 to June 2014, were selected as intervention group. Patients in the intervention group received trans-theoretical model of behavior together with ambulation training guidance for 3 weeks and follow-up record for 6 months. Holden functional ambulation categories ( FAC ) and Bathel index were used to evaluate the effect of ambulation training . Result Trans-theoretical model of behavior training improved the walking function and activities of daily living in intervention group patients , compared with those of the control group. Conclusions Taking trans-theoretical model of behavior in walking training health education can improve the ambulation ability and ability of daily living of stroke hemiplegic patients. Therefore this theory can enhance the stroke hemiplegic patients′life quality.%目的:探讨行为转变理论在脑卒中偏瘫患者步行训练中的应用效果。方法将2013年6~12月在本院住院60例脑卒中偏瘫患者设为对照组,实施常规的护理及步行训练指导;将2014年1~6月在本院住院62例脑卒中偏瘫患者设为干预组,将行为转变理论应用于患者步行训练健康教育中,干预时间3周,随访时间6个月。采用Holden步行功能分级(functional ambulation categories, FAC)和Bathel指数对患者进行测评。结果训练后两组患者FAC测评结果和Bathel得分比较,差异均有统计学意义(P<0.05),干预组患者步行功能和日常活动能力均优于对照组。结论将行为转变理论应用于脑卒中偏瘫患者步行训练健康教育中,可提高患者步行能

  16. FAMILY BOMBYLIIDAE.

    Science.gov (United States)

    Lamas, Carlos José Einicker; Evenhuis, Neal L

    2016-01-01

    Bombyliidae is one of the largest Diptera families with more than 4,500 recognized species worldwide. Their species vary from robust to thin, and may be small to large (2-20mm) and looks like bees or wasps. They also present great variation in color. Adults can often be seen either resting and sunning themselves on trails, rocks or twigs or feeding on flowering plants as they are nectar feeders. All reared bee flies are predators or parasitoids of arthropods. The Colombian fauna of bombyliids comprises at the moment 22 species, and 12 genera, of which, six are endemic species. Nonetheless, this number may be much higher, as Colombia is a megadiverse country and there are not many specimens of this family deposited in collections all over the world. PMID:27395279

  17. Family Polymorphism

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

    This paper takes polymorphism to the multi-object level. Traditional inheritance, polymorphism, and late binding interact nicely to provide both flexibility and safety — when a method is invoked on an object via a polymorphic reference, late binding ensures that we get the appropriate...... implementation of that method for the actual object. We are granted the flexibility of using different kinds of objects and different method implementations, and we are guaranteed the safety of the combination. Nested classes, polymorphism, and late binding of nested classes interact similarly to provide both...... safety and flexibility at the level of multi-object systems. We are granted the flexibility of using different families of kinds of objects, and we are guaranteed the safety of the combination. This paper highlights the inability of traditional polymorphism to handle multiple objects, and presents family...

  18. Familial hypercholesterolemia

    OpenAIRE

    Lahiri Koushik; Lahiri Bhabesh Chandra

    2001-01-01

    Familial hypercholesterolemia is a common, inherited disorder of cholesterol metabolism that leads to early cardiovascular morbidity and mortality. It is underdiagnosed and undertreated. Statins, ezetimibe, bile acid sequestrants, niacin, lomitapide, mipomersen and LDL apheresis are treatments that can lower LDL cholesterol levels. Early treatment can lead to substantial reduction of cardiovascular events and death in patients with FH. It is important to increase awareness of this disorder in...

  19. Familial Hypercholesterolemia

    Science.gov (United States)

    Bouhairie, Victoria Enchia; Goldberg, Anne Carol

    2015-01-01

    Familial hypercholesterolemia is a common, inherited disorder of cholesterol metabolism that leads to early cardiovascular morbidity and mortality. It is underdiagnosed and undertreated. Statins, ezetimibe, bile acid sequestrants, niacin, lomitapide, mipomersen and LDL apheresis are treatments that can lower LDL cholesterol levels. Early treatment can lead to substantial reduction of cardiovascular events and death in patients with FH. It is important to increase awareness of this disorder in physicians and patients in order to reduce the burden of this disorder. PMID:25939291

  20. Familial hyperamylasemia

    OpenAIRE

    Koda Yu Kar Ling; Vidolin Eliana

    2002-01-01

    A 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family memb...

  1. Efficacy Observation on Functional Electrical Stimulation Combined with Rehabilitation Training for Hemiplegic after Stroke%功能性电刺激联合康复训练治疗脑卒中偏瘫疗效观察

    Institute of Scientific and Technical Information of China (English)

    任海; 何永红

    2013-01-01

    Objective: To investigate the efficacy of treating hemiplegic by functional electrical stimulation combined with rehabilitation training. Methods:60 cases of patients were randomly divided into experiment group and control group, on the basis of conventional rehabilitation training, the control adopted the conventional ambulation training, while the experiment group adopted functional electrical stimulation, and compared the effi-cacy of two groups. Results:The improvement of MMT, TUG, 10MWT and Barthel index in experiment group were all better than those in control group (P<0.05). Conclusion:The treatment of functional electrical stimulation combined with rehabilitation training has a great effect on motor func-tion recovery of patients with hemiplegic after stroke, which has a high application value.%  目的:探讨功能性电刺激联合康复训练对脑卒中偏瘫的康复效果。方法:将60例患者随机分为实验组和对照组,对照组在常规恢复性训练基础上增加常规步行训练,实验组则增加功能性电刺激步行训练,比较两组临床疗效。结果:实验组MMT、TUG、10MWT及Barthel指数改善程度均优于对照组(P<0.05)。结论:功能性电刺激联合康复训练对脑卒中偏瘫患者的运动功能恢复效果显著,具有较高的应用价值。

  2. Clinical value of timing of walking training on hemiplegic patients%步行训练的时机选择对偏瘫患者康复的临床价值

    Institute of Scientific and Technical Information of China (English)

    王丽芳; 蔡月梅; 张秋云

    2015-01-01

    目的:探讨两种不同步行训练时机对偏瘫疾病患者在康复治疗期间实施干预的效果。方法:收治偏瘫患者84例,随机分为对照组和观察组各42例。对照组采用常规步行训练时机,观察组采用早期步行训练时机。结果:观察组步行能力改善时间和临床干预总时间明显短于对照组,不良反应例数明显少于对照组,治疗效果明显优于对照组。结论:应用早期步行训练时机对偏瘫患者在康复治疗期间实施干预的效果非常明显。%Objective:To explore the effect of intervention of two different walking training timing for hemiplegic patients at rehabilitation period.Methods:84 patients with hemiplegia were selected.They were randomly divided into the control group and the observation group with 42 cases in each group.The control group was given conventional walking training timing,and the observation group was given early walking training timing.Results:In the observation group,the improvement time of walking ability and clinical intervention time were significantly shorter than the control group;the adverse reactions were significantly less than the control group;the treatment effect was significantly better than the control group.Conclusion:The effect of intervention of early walking training timing for hemiplegic patients at rehabilitation period was significant.

  3. Characteristics of family firms with family management

    OpenAIRE

    Søndergaard, Kathrine Lærke; Almli, Line Floan

    2012-01-01

    In this paper we examine what characterizes family firms’ decisions when it comes to having a family member being the CEO or the chairman of the board of the company. We define this as family management, which is the dependent variable in our research. This variable has four non-ordered mutually exclusive values; family CEO, family chairman of the board, family CEO and family chairman of the board, and neither family CEO nor family chairman of the board. Using data from the Center for Corpora...

  4. Family conflict tendency and ADHD.

    Science.gov (United States)

    Niederhofer, H; Hackenberg, B; Lanzendörfer, K

    2004-04-01

    A lack of perseverance, poor attention, and poorly modulated behaviour are important criteria of Attention Deficit Hyperactive Disorder (ADHD). Instructions often have to be repeated, sometimes even by different family members before a child with ADHD attends and complies. We hypothesised that a child with ADHD might cause less disagreement in families with almost no conflicts. Responses to the Mannheim Parents Interview and teacher's form of the Conners scale completed by families of 15 boys (ages 6 to 12 years), diagnosed with ADHD were compared with those of a matched, healthy control group of 15 boys. Parents completed a form assessing the family's cooperation and child-rearing practices. Having few family conflicts, i.e., almost no Verbal Disagreement may reduce Physical Punishment and Anger and Disregard and augment the Openness to another's needs and, for that reason, have protective effects on children's behaviour modulation. PMID:15154188

  5. 245例脑外伤所致精神障碍者家属抑郁状况及相关因素分析%Depression Status of the Family Member and Its Influencing Factors in the Patient with Mental Disorder Caused by Cerebral Trauma: 245 Cases Analysis

    Institute of Scientific and Technical Information of China (English)

    杨成龙; 庞艳霞; 谢岩平; 许海峰

    2013-01-01

    目的 了解脑外伤所致精神障碍者家属抑郁状况及其影响因素. 方法 应用自行设计的一般资料调查问卷和抑郁自评量表(self-rating depression scale,SDS),对245名被鉴定人家属进行抑郁状况调查,并依据SDS评分指数分为抑郁组和非抑郁组,进行单因素以及多元逐步回归分析.结果 245名被鉴定人家属中117名家属存在不同程度的抑郁症状,其中轻度68例、中度42例、重度7例.在多元逐步回归分析中,亲缘关系、家属性格特征、付费方式为被鉴定人家属抑郁状况的主要影响因素. 结论 脑外伤所致精神障碍者家属抑郁状况应引起足够重视,给予针对性的心理干预.%Objective To determine the family member's depression status and its influencing factors in the patient with mental disorder caused by cerebral trauma.Methods The self-designed information questionnaire and self-rating depression scale (SDS) were used to investigate 245 family members' depression conditions.On the basis of SDS score index,all cases were divided into depression group and non-depression group.The data were analyzed by the tmivariate analysis and multiple factors regression analysis.Results In the 245 family members,117 family members had different degrees of depressive symptoms including 68 with mild depression,42 with moderate depression,and 7 with severe depression.In the multiple factors regression analysis,genetic relationship,personality characteristics and payment method were the main influencing factors of the depression status.Conclusion Much attention should be paid to the family member's depression condition of the patient with mental disorder caused by cerebral trauma through specific psychological intervention.

  6. Family Genericity

    DEFF Research Database (Denmark)

    Ernst, Erik

    2006-01-01

    Type abstraction in object-oriented languages embody two techniques, each with its own strenghts and weaknesses. The first technique is extension, yielding abstraction mechanisms with good support for gradual specification. The prime example is inheritance. The second technique is functional...... abstraction, yielding more precise knowledge about the outcome. The prime example is type parameterized classes. This paper argues that these techniques should be clearly separated to work optimally, and also that current languages fail to do this. We have applied this design philosophy to a language based...... the result as family genericity. The presented language design has been implemented....

  7. The efficacy of electromyogram triggered trancutaneous electric nerve stimulation for improving early hemiplegic limbs in the patients with cerebral infarction%肌电触发经皮神经电刺激治疗脑梗死早期偏瘫患者的疗效

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    目的:评价肌电触发经皮神经电刺激(ETTENS)治疗脑梗死早期偏瘫患者的疗效。方法:32例发病1周以内的脑梗塞患者随机分为观察组或对照组各16例。观察组用ETTENS治疗,对照组尽早运动患侧肢体。于治疗前后分别计算SIAS(肢体运动部分)积分及Barthel指数。结果:治疗后二组SIAS积分及Barthel指数的差异有显著性意义。结论:对脑梗死偏瘫患者尽早进行ETTENS治疗有助于功能康复。%Objective:To assess the efficacy of electomyogram triggered trancutaneous electric nerve stimulation(ETTENS) for improving early hemiplegic limbs in the patients with cerebral infarction.Methods:32 patients Who attacked within one week were attributed to observing group(OG) or control group(CG) at random (16 cases each group).ETTENS was added to hemiplegic limbs of OG patients,but only moving hemiplegic limbs given to CG patients.Stroke impairment assessment set (SIAS) scores(limbs) and Barthel Indices were summed up in pretreatment and posttreatment respectively.Results:Differences of partial SIAS scores or Barthel Indices between two groups of patients were significant statistically after treatment.Conclusion :That the hemiplegic patients resulted from cerebral infarction were treated with ETTENS as soon as possibly contributed to rehabilitation of patients.

  8. Family pediatrics: report of the Task Force on the Family.

    Science.gov (United States)

    Schor, Edward L

    2003-06-01

    their basic needs. Children's needs for which only a family can provide include social support, socialization, and coping and life skills. Their self-esteem grows from being cared for, loved, and valued and feeling that they are part of a social unit that shares values, communicates openly, and provides companionship. Families transmit and interpret values to their children and often serve as children's connection to the larger world, especially during the early years of life. Although schools provide formal education, families teach children how to get along in the world. Often, efforts to discuss families and make recommendations regarding practice or policy stumble over disagreements about the definition of a family. The task force recognized the diversity of families and chose not to operate from the position of a fixed definition. Rather, the task force, which was to address pediatrics, decided to frame its deliberations and recommendations around the functions of families and how various aspects of the family context influence child rearing and child health. One model of family functioning that implicitly guided the task force is the family stress model (Fig 1). Stress of various sorts (eg, financial or health problems, lack of social support, unhappiness at work, unfortunate life events) can cause parents emotional distress and cause couples conflict and difficulty with their relationship. These responses to stress then disrupt parenting and the interactions between parent and child and can lead to short-term or lasting poor outcomes. The earlier these events transpire and the longer that the disruption lasts, the worse the outcomes for children. The task force favors efforts to encourage and support marriage yet recognizes that every family constellation can produce good outcomes for children and that none is certain to yield bad ones. (ABSTRACT TRUNCATED)

  9. Family pediatrics: report of the Task Force on the Family.

    Science.gov (United States)

    Schor, Edward L

    2003-06-01

    their basic needs. Children's needs for which only a family can provide include social support, socialization, and coping and life skills. Their self-esteem grows from being cared for, loved, and valued and feeling that they are part of a social unit that shares values, communicates openly, and provides companionship. Families transmit and interpret values to their children and often serve as children's connection to the larger world, especially during the early years of life. Although schools provide formal education, families teach children how to get along in the world. Often, efforts to discuss families and make recommendations regarding practice or policy stumble over disagreements about the definition of a family. The task force recognized the diversity of families and chose not to operate from the position of a fixed definition. Rather, the task force, which was to address pediatrics, decided to frame its deliberations and recommendations around the functions of families and how various aspects of the family context influence child rearing and child health. One model of family functioning that implicitly guided the task force is the family stress model (Fig 1). Stress of various sorts (eg, financial or health problems, lack of social support, unhappiness at work, unfortunate life events) can cause parents emotional distress and cause couples conflict and difficulty with their relationship. These responses to stress then disrupt parenting and the interactions between parent and child and can lead to short-term or lasting poor outcomes. The earlier these events transpire and the longer that the disruption lasts, the worse the outcomes for children. The task force favors efforts to encourage and support marriage yet recognizes that every family constellation can produce good outcomes for children and that none is certain to yield bad ones. (ABSTRACT TRUNCATED) PMID:12777595

  10. Estimates of heritable and environmental components of familial breast cancer using family history information

    OpenAIRE

    Couto, E; Hemminki, K

    2007-01-01

    Using the Swedish Family-Cancer Database, the increased risk of breast cancer in women with relatives with the disease did not vary with paternal/maternal lineage. Familial breast cancer heritable component was 73% and the environmental proportion 27%. Familial aggregation of breast cancer in women below age 51 years is mainly due to heritable causes.

  11. Roles within the Family

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Text Size Email Print Share Roles Within the Family Page Content Article Body Families are not democracies. ...

  12. [Mirror therapy in hemiplegic patient].

    Science.gov (United States)

    Lisalde-Rodríguez, María Elena; Garcia-Fernández, José Antonio

    2016-01-01

    Introduccion. La terapia de espejo es una intervencion relativamente nueva, cada vez mas utilizada y de facil acceso para el tratamiento rehabilitador del paciente hemiplejico. El paciente moviliza el miembro sano frente a un espejo, de modo que mira el reflejo del movimiento del lado sano como si fuera el lado afectado. Objetivo. Analizar el efecto de la terapia de espejo en el paciente hemiplejico en cuanto a funcion sensitivomotora, heminegligencia y actividades de la vida diaria. Desarrollo. Se definio una estrategia de busqueda bibliografica en Medline, EMBASE, PEDro y Cochrane Central Register of Controlled Trials de ensayos clinicos aleatorizados llevados a cabo con pacientes hemiplejicos en los que se utilizara como intervencion rehabilitadora principal la terapia de espejo. Siete estudios cumplieron los criterios de inclusion con nivel medio-alto de calidad metodologica. La mayoria de los estudios valora el efecto de la terapia de espejo sobre el deficit motor, con mejorias significativas. Se encontraron tres ensayos clinicos aleatorizados que evaluan el efecto de la terapia de espejo sobre la heminegligencia, con beneficios tambien significativos. Conclusiones. La terapia de espejo combinada con una rehabilitacion convencional es efectiva sobre todo en la funcion motora y no tanto en la funcion sensitiva y en la funcionalidad global del paciente hemiplejico. En la heminegligencia se obtienen resultados tambien beneficiosos, aunque se basan en pocos ensayos clinicos aleatorizados y con muestras de pacientes reducidas, por lo que los resultados, aunque prometedores, son poco concluyentes.

  13. Integrating Family Resilience and Family Stress Theory.

    Science.gov (United States)

    Patterson, Joan M.

    2002-01-01

    The construct, family resilience, is defined differently by practitioners and researchers. This study tries to clarify the concept of family resilience. The foundation is family stress and coping theory, particularly the stress models that emphasize adaptation processes in families exposed to major adversities. (JDM)

  14. Family Psychology and Family Therapy in Japan.

    Science.gov (United States)

    Kameguchi, Kenji; Murphy-Shigematsu, Stephen

    2001-01-01

    Reviews the development of family psychology and family therapy in Japan, tracing the origins of these movements, explaining how these fields were activated by the problem of school refusal, and describing an approach to family therapy that has been developed to work with families confronting this problem, as well as preventive programs of family…

  15. Credentialing Caregivers. Families Matter.

    Science.gov (United States)

    Dean, Christiana

    The Families Matter series of papers from the Harvard Family Research Project advances the concept of family-centered child care, advocating an approach to early childhood education that addresses the development of the child and family together. Grounded in family support principles, which build on family strengths and work from a community's…

  16. Reclaiming Family Privilege

    Science.gov (United States)

    Seita, John

    2012-01-01

    The pull for family is strong, almost primeval, most likely it is evolutionary, and for those lacking the benefit of family or Family Privilege, the loss of family is painful and profoundly sad. Young people who struggle to cope without stable family connections are profoundly aware of their lack of "Family Privilege." In this article, the author…

  17. Familial colorectal cancer type X

    DEFF Research Database (Denmark)

    Dominguez-Valentin, Mev; Therkildsen, Christina; Da Silva, Sabrina;

    2015-01-01

    Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, histopathologi...... features, and the genetic and epigenetic profiles of the familial colorectal cancer type X (FCCTX) syndrome with the aim to delineate tumor characteristics that may contribute to refined diagnostics and optimized tumor prevention.......Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, histopathologic...

  18. Genetics Home Reference: familial encephalopathy with neuroserpin inclusion bodies

    Science.gov (United States)

    ... Home Health Conditions FENIB familial encephalopathy with neuroserpin inclusion bodies Enable Javascript to view the expand/collapse ... All Close All Description Familial encephalopathy with neuroserpin inclusion bodies ( FENIB ) is a disorder that causes progressive ...

  19. 偏瘫患者与正常人日常生活活动的三维运动学分析%Three-dimensional kinematic analysis of the ability in the activities of daily living of hemiplegic patients and normal subjects

    Institute of Scientific and Technical Information of China (English)

    杨唐柱; 黄晓琳; 陈文斌; 熊蔡华; 孙容磊

    2010-01-01

    目的 采用三维运动学分析方法研究正常人和偏瘫患者在日常生活活动(ADL)中的上肢运动学特点.方法 应用Vcion运动捕捉系统(简称Vicon系统)采集15名正常人(健康组)和10例偏瘫患者(偏瘫组)在执行抬臂、梳头、喝水、摸对侧肩、摸后口袋这5项ADL时的上肢关节三维运动数据.经数据处理得到2组的胸锁关节、肩锁关节、肩关节、肘关节、腕关节的三维运动角度和各动作的运动时间,并进行比较.结果 偏瘫组胸锁关节旋外和外展角度,肩锁关节旋内和后伸角度,肘关节屈曲角度较健康组均显著增大,差异有统计学意义(P<0.05),而其肩锁关节内收角度,肩关节内收、外展、前屈、后伸、旋外和旋内角度较健康组则显著减小,差异有统计学意义(P<0.05);偏瘫组运动时间较健康组显著延长,差异有统计学意义(P<0.05).结论 初步建立了一种基于Vicon系统的上肢三维运动学分析方法,所得结果提示偏瘫患者采用与正常人不同的关节运动模式来完成ADL.%Objective To study the kinematic characteristics of normal subjects and hemiplegic patients in activities of daily living (ADL) by three-dimensional (3D) kinematic analysis. Methods A Vicon motion capture system was used to record 3D kinematic data on 15 normal subjects ( the healthy group) and 10 hemiparetic patients (the hemiplegic group) performing 5 ADL tasks: reaching up, combing, drinking, touching the opposite shoulder and touching the back pocket. The movement times and the 3D motion angles of the sternoclavicular joint,the acromioclavicular joint, the shoulder joint, the elbow joint and the wrist joint were recorded. Three-dimensional joint angles and movement times were compared between the normal group and the hemiplegic group. Results Compared with the normal group, the hemiplegic group had significantly more lateral rotation and abduction of the sternoclavicular joint, medial rotation and

  20. 等速肌力训练对脑卒中偏瘫患者下肢功能恢复的影响%Effect of isokinetic exercise on lower limb function recovery of hemiplegic patients

    Institute of Scientific and Technical Information of China (English)

    杨华中; 吴莹莹; 周永生; 邓雯娇

    2015-01-01

    目的::观察等速肌力训练对偏瘫患者下肢功能恢复的影响。方法:将我院收治的40例偏瘫患者随机分为观察组和对照组各20例,对照组采用常规康复训练,包括运动治疗(神经促进疗法、平衡功能训练、等张肌力训练、桥式运动、重心转移训练、步态训练、协调与运动控制训练等)、作业治疗、传统康复疗法、物理因子治疗。观察组在常规康复训练的基础上增加偏瘫下肢屈、伸膝肌群等速肌力训练,测试及训练模式为普通等速向心/向心模式。治疗前后分别采用等速肌力测试训练仪的峰力矩值(PT)、Fugl-Meyer 运动功能评分、功能独立性评分、Berg 平衡功能评分及改良 Ashworth 肌痉挛分级(MAS)对患者下肢肌痉挛及功能情况进行分析。结果:治疗10周后,2组患者膝关节伸屈膝肌 PT、Fugl-Meyer 评分、Berg 评分及 FIM 评分均较治疗前明显提高,且观察组更高于对照组(P <0.05)。治疗前后 2组患者肌痉挛 MAS 评分组间及组内比较差异均无统计学意义。结论:等速肌力训练对偏瘫患者下肢功能恢复有明显改善作用。%Objective:To investigate the effect of isokinetic exercise on lower limb function recovery of hemiplegia patients.Methods:Forty hemiplegic patients in XiangYa BoAi Rehabilitation Hospital were randomly divided into experimental group and control group.All the cases accepted routine rehabilitation exercise,including therapeutic exercise (neuromuscular facilitation technique,balance exercise,isotonic exercise,bridge motion,transfer exercise, coordination and motor control training,etc),occupational therapy,traditional Chinese medicine rehabilitation ther-apy and physiatrics.The experimental group additionally accepted isokinetic exercise for knee flexion & extension muscles of the hemiplegic side.After therapy,their lower limb function was measured by isokinetic peak torque, Fugl-Meyer motor functional score

  1. Treatment of Hemiplegic Shoulder Pain with Wrist-ankle Acupuncture Combined with Rehabilitation Exercises%腕踝针配合康复训练治疗偏瘫肩痛

    Institute of Scientific and Technical Information of China (English)

    徐磊; 江勇; 曹小芳; 张学云; 史伟娜

    2011-01-01

    目的 研究腕踝针配合康复训练和单纯康复训练治疗偏瘫肩痛的临床疗效.方法 将中风偏瘫后肩痛患者60例随机分为治疗组30例,对照组30例.治疗组采用腕踝针配合康复训练,对照组采用康复训练.10d为一疗程,休息3d后开始下一疗程,2个疗程后观察临床疗效并进行评价.结果 治疗后治疗组显效率为66.7%,好转率26.7%,总有效率为93.3%,对照组显效率为33.3%,好转率为40%,总有效率为73.3%.治疗组在减轻疼痛,增加上肢运动功能方面明显优于对照组(P<0.01).结论 腕踝针配合康复训练和单纯康复训练都对偏瘫肩痛有良好的治疗效果,但腕踝针配合康复训练的疗效明显优于单纯康复训练的疗效.%Objective To compare the clinical effect of simple rehabitition exercises and wrist-ankle acupuncture combined with rehabitition exercises in treating hemiplegic shoulder pain. Methods Sixty patients of hemiplegic shoulder pain were randomly divided into treatment group(30 case) and control group(30 case). The patients in the treatment group were treated with wrist-ankle acupuncture combined with rehabilitation exercises. The patients in the control group were treated with simple rehabilitation exercises only. Ten days were as one course,next course was started 3 days later. The therapeutic effects were elevated after two courses of treatment. Results The cure rate and marked efficacy rate of the treatment group were 66. 7% and 26.7% .respectively; of the control group were 33. 3% and 40% .respectively. The total efficacy rate were 93. 3% in treatment group and 73. 3% in control group. The results of therapy improved more significantly in treatment group than in control group( P <0.01). Conclusion Both wrist-ankle acupuncture combined with rehabilitation exercise and simple rehabilitation exercise have a marked therapeutic effect on hemiplegic shoulder pain. But wrist-ankle acupuncture combined with rehabilitation

  2. 背屈踝足矫形器对偏瘫患者骨盆控制影响的运动学分析%The kinematic analysis of Dorsiflexion Ankle Foot Orthotics on pelvic control of hemiplegic patients

    Institute of Scientific and Technical Information of China (English)

    冯慧; 许光旭; 朱奕

    2013-01-01

    Objective To observe the effects of dorsiflexion ankle foot orthotics (d-AFO) on pelvic control of hemiplegic patients by analyzing the time-space gait parameters and 3D pelvic motion parameters.Methods Fifteen hemiplegic patients (14 male and 1 female) were enrolled in this study.The time-space gait parameters and pelvic 3D motion parameters were collecte with a Motion Analysis System while the patients were asked to walk under 3 conditions:wearing d-AFO (5°dorsiflexion),f-AFO (0°dorsiflexion) or barefoot.Results It was found that,while wearing d-AFO,the velocity,the paralyzed step length and the nonparalyzed step length were significantly increased,and the step width was significantly decreased when compared with those while walking barefoot (P < 0.05).Comparison between wearing d-AFO and f-AFO showed that the sagittal and coronal plane inclinations,but not the transverse rotation of pelvis were significantly decreased when wearing the d-AFO (P < 0.05).Conclusions d-AFO can significantly improve pelvis control and increase gait stability in hemiplegic patients.%目的 通过分析穿戴不同角度踝足矫形器(AFO)偏瘫患者的步态时空参数及骨盆三维运动参数,探讨不同角度AFO对偏瘫患者骨盆控制的影响.方法 对15例偏瘫患者穿戴背屈5°位AFO(d-AFO)、背屈0°位AFO(f-AFO)、裸足状态进行步态对比分析,获取步态时空参数及骨盆三维运动参数,并对3种状态的空间参数及步态不对称指数进行统计学分析比较.结果 与裸足相比,穿戴d-AFO时的步速是(0.54±0.05) m/s,患侧步长是(0.47±0.01)m,健侧步长是(0.44 ±0.03)m,步宽是(0.16±0.02)m,其能显著提高患者步速(P<0.05),增加步长(P<0.05),减少步宽(P<0.01),提高步态的稳定性;佩戴d-AFO步行时,骨盆横断面上的旋转范围(10.2±3.29)°,较佩戴f-AFO步行时无明显减小(P>0.05),但矢状面倾斜范围(6.52±0.84)°及冠状面的倾斜范围(5±0.38)°均明显减小(P<0.05).

  3. Efficacy of functional electrical stimulation on the lower limb function and walking ability of hemiplegic stroke patients%功能性电刺激对偏瘫患者下肢功能及步态的影响

    Institute of Scientific and Technical Information of China (English)

    许佳; 胡世红; 凌晴; 何嫱; 陈丽丹; 陈庆珍

    2015-01-01

    目的:观察功能性电刺激对脑卒中偏瘫患者下肢运动功能及步态的影响。方法:60例脑卒中偏瘫患者分成观察组和对照组,每组30例。对照组采用常规康复训练方法,观察组在此基础上增加佩戴步态诱发功能电刺激仪的步态训练,每次20min ,每周5次,持续8周。于治疗前后采用下肢Fugl‐Meyer运动功能评分(FMA)、功能性步行能力分级(FAC )及足印分析法对2组患者进行评定。结果:治疗8周后,2组患者下肢 FM A评分、FAC分级及患侧的平均步长、步宽及步速均较治疗前显著提高(P<0.05),且观察组更高于对照组(P<0.05)。结论:使用功能性电刺激进行步态训练后可进一步改善脑卒中偏瘫患者的下肢运动功能,提高步行能力。%Objective:To investigate the efficacy of functional electrical stimulation on the lower limb motor func‐tion and walking ability of hemiplegic stroke patients .Methods:Sixty hemiplegic stroke patients were randomly di‐vided into a treatment group and a control group (n=30 each) .Both groups were treated with routine rehabilita‐tion ,but the treatment group also undertook gait training with gait triggered functional electrical stimulation .The training was carried out 20 min every day ,5 days every week for 8 weeks .All patients were assessed with the Fugl‐Meyer lower limb assessment (FMA) ,functional ambulation category (FAC) classification and footprint analysis pretreatment and 8 weeks post‐treatment .Results:Eight weeks post‐treatment ,the FMA motor function ,FAC classification and the average values of step length ,stride width and velocity at the affected side in both two groups were significantly increased as compared with those pretreatment ,more significantly in the treatment group than in the control group (P<0 .05) .Conclusions:Gait training with functional electrical stimulation combined with routine rehabilitation training

  4. Progressive resistance exercise for improving lower limb motor function in hemiplegic stroke patients%渐进式抗阻训练对脑卒中偏瘫患者下肢功能的影响

    Institute of Scientific and Technical Information of China (English)

    黄臻; 闵瑜; 陈佩顺; 李陶韬; 钟陶

    2009-01-01

    目的 观察渐进式抗阻训练对脑卒中偏瘫患者下肢功能的影响.方法 将89例脑卒中偏瘫患者随机分成治疗组及对照组.2组患者均给予常规康复训练,治疗组在此基础上增加渐进式抗阻训练,对照组则采用股四头肌训练仪进行辅助治疗.于治疗前及治疗4周后采用下肢Fugl-Meyer评分、功能性步行能力分级(FAC)及改良Barthel指数(MBI)对2组患者进行评定.结果 治疗前2组患者下肢Fugl-Meyer评分、FAC分级及MBI评分组间差异均无统计学意义(P>0.05),治疗后2组患者上述指标均较治疗前显著改善(P<0.05),且以治疗组的改善幅度较显著,与对照组比较,组间差异均有统计学意义(P<0.05).结论 联合常规康复训练及渐进式抗阻训练治疗脑卒中偏瘫患者,可进一步提高患者下肢运动功能、步行能力及日常生活活动能力.%Objective To investigate the efficacy of progressive resistance exercise for improving the lower limb motor function of hemiplegic stroke patients. Methods Eighty-nine hemiplegic patients were randomly divided into a treatment group (n =46) and a control group ( n = 43 ) . Both groups received routine rehabilitation training, while the treatment group also undertook progressive resistance training. The control group received extra quadriceps femoris training. Before and after the treatment, motor function was evaluated with the Fugl-Meyer lower limb assessment, functional ambulation category (FAC) classification and the modified Barthel index (MBI). Results Before intervention, there were no significant differences between the two groups in any of the assessments. Four weeks later, all the assessment scores obtained with the Fugl-Meyer lower limb assessment, FCA classification and MBI in the treatment group were significantly better than those in the control group. Conclusion Progressive resistance training combined with routine rehabilitation treatment can improve motor function in the

  5. 3D Gait Analysis of Stroke Hemiplegic Patients before and after Rehabilitation%脑卒中偏瘫患者康复治疗前后的三维步态分析

    Institute of Scientific and Technical Information of China (English)

    卢利萍; 桑德春; 邵翠霞; 刘海荣; 刘建华; 李媛媛

    2014-01-01

    Objective To explore the 3D gait analysis of stroke hemiplegic patients. Methods 28 stroke hemiplegic patients were exam-ined with the 3D gait analysis system before and after 6-week rehabilitation. Results After rehabilitation, support phase time of the affected lower limb increased and swing phase time decreased (P<0.05). Step length, stride length and walking speed increased (P<0.05). There was significantly difference in range of motion (ROM) of hip deduction/abduction, flexion/extension, and knee flexion/extension, and ankle inter-nal/external rotation, varus/eversion, dorsiflexion/plantar flexion before and after rehabilitation (P<0.05). Conclusion 3D gait analysis sys-tem can evaluate the patient's gait objectively and quantitatively, and provide the basis for rehabilitation assessment.%目的:分析脑卒中偏瘫患者康复治疗前后的三维步态特点。方法采用三维步态分析仪对28例脑卒中偏瘫患者6周的常规康复训练前后分别进行三维步态分析检查。结果治疗后患侧下肢站立相百分比较前增加(P<0.05),摆动相百分比较前减少(P<0.05),较前接近正常值;患侧下肢的步长、跨步长,步速均较前增加(P<0.05);患者髋关节内收外展、屈曲伸展,膝关节屈曲伸展,踝关节内外旋转、内翻外翻、背屈跖屈均较前改善(P<0.05)。结论三维步态分析系统能定量地评价患者的步态情况,可作为康复疗效评定的指标之一。

  6. Modified constraint-induced movement therapy or bimanual occupational therapy following injection of Botulinum toxin-A to improve bimanual performance in young children with hemiplegic cerebral palsy: a randomised controlled trial methods paper

    Directory of Open Access Journals (Sweden)

    Imms Christine

    2010-07-01

    Full Text Available Abstract Background Use of Botulinum toxin-A (BoNT-A for treatment of upper limb spasticity in children with cerebral palsy has become routine clinical practice in many paediatric treatment centres worldwide. There is now high-level evidence that upper limb BoNT-A injection, in combination with occupational therapy, improves outcomes in children with cerebral palsy at both the body function/structure and activity level domains of the International Classification of Functioning, Disability and Health. Investigation is now required to establish what amount and specific type of occupational therapy will further enhance functional outcomes and prolong the beneficial effects of BoNT-A. Methods/Design A randomised, controlled, evaluator blinded, prospective parallel-group trial. Eligible participants were children aged 18 months to 6 years, diagnosed with spastic hemiplegic cerebral palsy and who were able to demonstrate selective motor control of the affected upper limb. Both groups received upper limb injections of BoNT-A. Children were randomised to either the modified constraint-induced movement therapy group (experimental or bimanual occupational therapy group (control. Outcome assessments were undertaken at pre-injection and 1, 3 and 6 months following injection of BoNT-A. The primary outcome measure was the Assisting Hand Assessment. Secondary outcomes included: the Quality of Upper Extremity Skills Test; Pediatric Evaluation of Disability Inventory; Canadian Occupational Performance Measure; Goal Attainment Scaling; Pediatric Motor Activity Log; modified Ashworth Scale and; the modified Tardieu Scale. Discussion The aim of this paper is to describe the methodology of a randomised controlled trial comparing the effects of modified constraint-induced movement therapy (a uni-manual therapy versus bimanual occupational therapy (a bimanual therapy on improving bimanual upper limb performance of children with hemiplegic cerebral palsy following

  7. Effect of occupational therapy on upper extremity function and daily activities in spastic hemiplegic cerebral palsied children%作业治疗对痉挛型偏瘫患儿上肢运动功能的影响

    Institute of Scientific and Technical Information of China (English)

    张洪梅; 姜南; 赵晓科; 高夫宁

    2012-01-01

    Objective To investigate the occupational therapeutic effect on the upper extremity function and daily activities in spastic hemiplegic cerebral palsied childrea Methods Thirty children with spastic hemiplegic cerebral palsy were equally randomized into two groups of A (treated with occupational therapy plus conventional treatments of exercise, massage and neuromuscular electrostimulation) and B( treated with conventional treatments alone). The fine motor, suitability and individual-society were evaluated with Gesell development scale and the activities of daily living( ADD before and after one month therapy. Results Compared with group B, the scores of Gesell and ADL after treatment in group A were significantly increased (P<0. 05). Conclusion The occupational therapy can improve movement of the upper extremities and daily living activity.%目的 探讨作业治疗对痉挛型偏瘫儿童上肢精细运动功能及日常生活能力的治疗作用.方法 30例痉挛型偏瘫患儿随机均分为治疗组和对照组,均进行运动疗法、推拿、神经肌肉电刺激等常规康复治疗1个月;治疗组在此基础上加用作业治疗.治疗前后采用Gesell发育量表进行评估,计算精细运动、适应性、个人社会的发育商及总发育商及日常生活活动能力.结果 治疗后,治疗组患儿精细运动、适应性、个人社会等能区的发育商、总发育商及日常生活活动能力均较对照组显著改善(P<0.05).结论 作业治疗有助于提高痉挛型偏瘫患儿的精细运动功能及日常生活活动能力.

  8. [Family Health. La Salud de la Familia.

    Science.gov (United States)

    Moreno, Steve

    These three booklets on family and child health are part of a series of 22 booklets specifically designed to help parents understand their children and help them to learn. "The Effects of Stress on Parents and Family Life" (booklet #17), covers issues such as causes and effects of stress, stress and our modern society, and coping with stress. In…

  9. On the Astrid asteroid family

    Science.gov (United States)

    Carruba, V.

    2016-09-01

    Among asteroid families, the Astrid family is peculiar because of its unusual inclination distribution. Objects at a ≃ 2.764 au are quite dispersed in this orbital element, giving the family a `crab-like' appearance. Recent works showed that this feature is caused by the interaction of the family with the s - sC nodal secular resonance with Ceres, that spreads the inclination of asteroids near its separatrix. As a consequence, the currently observed distribution of the vW component of terminal ejection velocities obtained from inverting Gauss equation is quite leptokurtic, since this parameter mostly depends on the asteroids inclination. The peculiar orbital configuration of the Astrid family can be used to set constraints on key parameters describing the strength of the Yarkovsky force, such as the bulk and surface density and the thermal conductivity of surface material. By simulating various fictitious families with different values of these parameters, and by demanding that the current value of the kurtosis of the distribution in vW be reached over the estimated lifetime of the family, we obtained that the thermal conductivity of Astrid family members should be ≃0.001 W m-1 K-1, and that the surface and bulk density should be higher than 1000 kg m-3. Monte Carlo methods simulating Yarkovsky and stochastic Yarkovsky-O'Keefe-Radzievskii-Paddack (YORP) evolution of the Astrid family show its age to be T = 140 ± 30 Myr old, in good agreement with estimates from other groups. Its terminal ejection velocity parameter is in the range V_{EJ}= 5^{+17}_{-5} m s-1. Values of VEJ larger than 25 m s-1 are excluded from constraints from the current inclination distribution.

  10. Unemployment as a Destructive Factor in Family Education

    OpenAIRE

    ANNA MARZEC-TARASIŃSKA

    2011-01-01

    Unemployment in Poland s one of the main factors causing problems in the process of upbringing. It is also the main reason for constant growth of poverty and process of marginalization of many families in Polish society. Family is a basic and irreplaceable environment for a child. It is not child's choice what sort of family she/he was born into, however family situation and environment started to influence a child, from very beginning. Well functioning family, where the social...

  11. Migrânea com afasia: relato de uma família Migraine with aphasia: report of a family

    Directory of Open Access Journals (Sweden)

    DANIEL BENZECRY ALMEIDA

    1999-03-01

    Full Text Available Descrevemos uma família brasileira na qual a mãe e três filhas apresentam episódios compatíveis com migrânea, acompanhados por alteração no conteúdo da linguagem (afasia, sem paresias. Alguns aspectos relativos à genética das migrâneas são revisados. Chamamos a atenção para a necessidade de investigação genética para saber se é uma variante das formas conhecidas de migrânea, como a migrânea hemiplégica familiar.We describe a Brazilian family in which one female patient and her three daughters present a clinical course compatible with migraine, preceded by language disorders (aphasia, without paresis. Several aspects related to genetics of migraine are reviewed. We conclude that further genetical studies are necessary to establish if these cases are different sources of weel-known migraine subtypes as the familial hemiplegic migraine.

  12. Family Reading Night

    Science.gov (United States)

    Hutchins, Darcy; Greenfeld, Marsha; Epstein, Joyce

    2007-01-01

    This book offers clear and practical guidelines to help engage families in student success. It shows families how to conduct a successful Family Reading Night at their school. Family Night themes include Scary Stories, Books We Love, Reading Olympics, Dr. Seuss, and other themes. Family reading nights invite parents to come to school with their…

  13. Do daughters really cause divorce? Stress, pregnancy, and family composition.

    Science.gov (United States)

    Hamoudi, Amar; Nobles, Jenna

    2014-08-01

    Provocative studies have reported that in the United States, marriages producing firstborn daughters are more likely to divorce than those producing firstborn sons. The findings have been interpreted as contemporary evidence of fathers' son preference. Our study explores the potential role of another set of dynamics that may drive these patterns: namely, selection into live birth. Epidemiological evidence indicates that the characteristic female survival advantage may begin before birth. If stress accompanying unstable marriages has biological effects on fecundity, a female survival advantage could generate an association between stability and the sex composition of offspring. Combining regression and simulation techniques to analyze real-world data, we ask, How much of the observed association between sex of the firstborn child and risk of divorce could plausibly be accounted for by the joint effects of female survival advantage and reduced fecundity associated with unstable marriage? Using data from the National Longitudinal Survey of Youth (NLSY79), we find that relationship conflict predicts the sex of children born after conflict was measured; conflict also predicts subsequent divorce. Conservative specification of parameters linking pregnancy characteristics, selection into live birth, and divorce are sufficient to generate a selection-driven association between offspring sex and divorce, which is consequential in magnitude. Our findings illustrate the value of demographic accounting of processes which occur before birth-a period when many outcomes of central interest in the population sciences begin to take shape.

  14. Do daughters really cause divorce? Stress, pregnancy, and family composition.

    Science.gov (United States)

    Hamoudi, Amar; Nobles, Jenna

    2014-08-01

    Provocative studies have reported that in the United States, marriages producing firstborn daughters are more likely to divorce than those producing firstborn sons. The findings have been interpreted as contemporary evidence of fathers' son preference. Our study explores the potential role of another set of dynamics that may drive these patterns: namely, selection into live birth. Epidemiological evidence indicates that the characteristic female survival advantage may begin before birth. If stress accompanying unstable marriages has biological effects on fecundity, a female survival advantage could generate an association between stability and the sex composition of offspring. Combining regression and simulation techniques to analyze real-world data, we ask, How much of the observed association between sex of the firstborn child and risk of divorce could plausibly be accounted for by the joint effects of female survival advantage and reduced fecundity associated with unstable marriage? Using data from the National Longitudinal Survey of Youth (NLSY79), we find that relationship conflict predicts the sex of children born after conflict was measured; conflict also predicts subsequent divorce. Conservative specification of parameters linking pregnancy characteristics, selection into live birth, and divorce are sufficient to generate a selection-driven association between offspring sex and divorce, which is consequential in magnitude. Our findings illustrate the value of demographic accounting of processes which occur before birth-a period when many outcomes of central interest in the population sciences begin to take shape. PMID:25024115

  15. Do Daughters Really Cause Divorce? Stress, Pregnancy, and Family Composition

    OpenAIRE

    Hamoudi, Amar; Nobles, Jenna

    2014-01-01

    Provocative studies have reported that in the United States, marriages producing firstborn daughters are more likely to divorce than those producing firstborn sons. The findings have been interpreted as contemporary evidence of fathers' son preference. Our study explores the potential role of another set of dynamics that may drive these patterns: namely, selection into live birth. Epidemiological evidence indicates that the characteristic female survival advantage may begin before birth. If s...

  16. 孤儿家庭支持功能缺失的心理应对研究——以玉树地震致孤儿童为例%How to Enhance Psychological Assistance of the Young Orphans Lacking of Family Supporting ---By the Case of Young Orphans Caused by the Yushu Earthquake

    Institute of Scientific and Technical Information of China (English)

    颜农秋; 王建民; 祁乐平

    2012-01-01

    The orphans' health and socialization process is directly influenced by the losing of the family supporting functions and tending environment,which becomes an urgent issue in the practical assistance to the orphans caused by earthquake. The psychological assistance strategies of orphan, which takes enhancing the internal psychological dynamic mechanism and the external motivating conditions of orphan as the foundation point, is a rational check and innovative research result based on the current set of three placement models of the orphans caused by the Yushu Earthquake, and it meets the orphan's socialization development needs.%孤儿家庭支持功能缺失直接影响到孤几的心理健康及其正常的社会化过程,这已成为地震孤儿救助实践中亟需解决的突出问题。以增强孤儿内在心理动力机制和外在促动条件为根本点的孤儿心理援助策略,是针对当前玉树地震致孤儿童安置模式的理性审视与创新研究的结果,它顺应了孤儿心理及社会化发展的需求。

  17. Familial adenomatous polyposis.

    Science.gov (United States)

    Half, Elizabeth; Bercovich, Dani; Rozen, Paul

    2009-01-01

    Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC) cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after the appearance of the polyps. Nonspecific symptoms may include constipation or diarrhea, abdominal pain, palpable abdominal masses and weight loss. FAP may present with some extraintestinal manifestations such as osteomas, dental abnormalities (unerupted teeth, congenital absence of one or more teeth, supernumerary teeth, dentigerous cysts and odontomas), congenital hypertrophy of the retinal pigment epithelium (CHRPE), desmoid tumors, and extracolonic cancers (thyroid, liver, bile ducts and central nervous system). A less aggressive variant of FAP, attenuated FAP (AFAP), is characterized by fewer colorectal adenomatous polyps (usually 10 to 100), later age of adenoma appearance and a lower cancer risk. Some lesions (skull and mandible osteomas, dental abnormalities, and fibromas on the scalp, shoulders, arms and back) are indicative of the Gardner variant of FAP. Classic FAP is inherited in an autosomal dominant manner and results from a germline mutation in the adenomatous polyposis (APC) gene. Most patients (~70%) have a family history of colorectal polyps and cancer. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition, MUTYH-associated polyposis (MAP), which is characterized by a slightly increased risk of developing CRC and polyps/adenomas in both the upper and lower gastrointestinal tract. Diagnosis is based on a suggestive family history

  18. Familial adenomatous polyposis

    Directory of Open Access Journals (Sweden)

    Rozen Paul

    2009-10-01

    Full Text Available Abstract Familial adenomatous polyposis (FAP is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after the appearance of the polyps. Nonspecific symptoms may include constipation or diarrhea, abdominal pain, palpable abdominal masses and weight loss. FAP may present with some extraintestinal manifestations such as osteomas, dental abnormalities (unerupted teeth, congenital absence of one or more teeth, supernumerary teeth, dentigerous cysts and odontomas, congenital hypertrophy of the retinal pigment epithelium (CHRPE, desmoid tumors, and extracolonic cancers (thyroid, liver, bile ducts and central nervous system. A less aggressive variant of FAP, attenuated FAP (AFAP, is characterized by fewer colorectal adenomatous polyps (usually 10 to 100, later age of adenoma appearance and a lower cancer risk. Some lesions (skull and mandible osteomas, dental abnormalities, and fibromas on the scalp, shoulders, arms and back are indicative of the Gardner variant of FAP. Classic FAP is inherited in an autosomal dominant manner and results from a germline mutation in the adenomatous polyposis (APC gene. Most patients (~70% have a family history of colorectal polyps and cancer. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition, MUTYH-associated polyposis (MAP, which is characterized by a slightly increased risk of developing CRC and polyps/adenomas in both the upper and lower gastrointestinal tract. Diagnosis is based on a

  19. Family Smoking, Exposure to Secondhand Smoke at Home and Family Unhappiness in Children

    Directory of Open Access Journals (Sweden)

    Jian Jiu Chen

    2015-11-01

    Full Text Available Tobacco use adversely affects many aspects of well-being and is disliked by non-smokers. However, its association with family happiness is unknown. We investigated the associations of family unhappiness with smoking in family members and secondhand smoke (SHS exposure at home in Hong Kong children. In a school-based survey in 2012–2013, 1238 primary school students (mean age 8.5 years, standard deviation 0.9; 42.6% boys reported family smoking, SHS exposure at home and whether their families had any unpleasant experience caused by smoking or SHS in the past 30 days (tobacco-related unpleasant experience, and rated the overall level of happiness in their families (family unhappiness. Multivariable logistic regression was used to study the associations of tobacco-related unpleasant experience and family unhappiness with family smoking and SHS exposure at home. Tobacco-related unpleasant experience and family unhappiness were reported by 27.5% and 16.5% of students. Unpleasant experience was more strongly associated with family smoking than SHS exposure at home. Family unhappiness was associated with both family smoking (odds ratio 2.37; 95% confidence interval 1.51–3.71 and SHS exposure at home (1.82; 1.39–2.40. These results suggest a previously neglected possible impact of tobacco use on family happiness.

  20. Familial tularaemia

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    Peker E

    2009-01-01

    Full Text Available Tularaemia is a zoonotic disease caused by Francisella tularensis . In this report, we have presented an early stage case of tularemia with fever and pharyngitis and two cases from the same non-endemic region with typical lymphadenitis. All three patients were treated with non-specific medications in healthcare centres, the treatment being directed towards symptoms resembling those of upper respiratory tract infections. However, there was no regression in their complaints. Because the first case had been treated earlier, his lymphadenopaties regressed and there was no suppuration. The other two cases, which had been suspected to be exposed to the same pathogen based on their histories, were at a mild acute phase and presented to our clinic with typical lymphadenitis. The diagnoses of each of the three patients were made serologically. An early clinical recovery was achieved in the first patient with streptomycin (1 x 1 g/day im and doxycyline (2 x 100 mg/day peroral therapy. The therapy was prolonged to 4 weeks in the other two cases according to lymph node response and no complications occurring in their follow-ups. It can be concluded that tularaemia should be considered in the differential diagnosis of patients with fever, pharyngitis, conjunctivitis and cervical lymphadenopathies that do not respond to β -lactam antibiotics.

  1. Family Capital: Implications for Interventions with Families

    Science.gov (United States)

    Belcher, John R.; Peckuonis, Edward V.; Deforge, Bruce R.

    2011-01-01

    Social capital has been extensively discussed in the literature as building blocks that individuals and communities utilize to leverage system resources. Similarly, some families also create capital, which can enable members of the family, such as children, to successfully negotiate the outside world. Families in poverty confront serious…

  2. PSYCHOLOGY OF FAMILY BUSINESS

    OpenAIRE

    Taylyakova, Feruzahon

    2014-01-01

    This article analyzes the basic psychological characteristics of family businesses. The author describes the psychological properties that contribute to improve individual and family businesses. The article also discusses mental properties adversely affect the development of a family business.

  3. Family Reunion Health Guide

    Science.gov (United States)

    ... can post this message as a note on Facebook, tagging family members and loved ones. You also may include ... gov . Planning Tip 2. | Develop a Family Reunion Facebook page and help family members stay in touch throughout the year. Share ...

  4. Normal Functioning Family

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Español Text Size Email Print Share Normal Functioning Family Page Content Article Body Is there any way ...

  5. Family Adjustment to Aphasia

    Science.gov (United States)

    ... Public / Speech, Language and Swallowing / Disorders and Diseases Family Adjustment to Aphasia Richard S. was a senior manager ... It also presents a great challenge to the family. There may be tension among family members and ...

  6. Family Activities for Fitness

    Science.gov (United States)

    Grosse, Susan J.

    2009-01-01

    This article discusses how families can increase family togetherness and improve physical fitness. The author provides easy ways to implement family friendly activities for improving and maintaining physical health. These activities include: walking, backyard games, and fitness challenges.

  7. Branding a family business

    OpenAIRE

    Pohjola, Matti

    2016-01-01

    This master’s thesis main object was to understand better the very little researched topic: branding a family business. The main aim was to seek the values used behind family business that are the family values used in the brand and how the branding has been implemented in a family company. A qualitative method was chosen for this research for an interpretative analysis of the subject. Five family companies were chosen for the interviews. All these family companies are known Fi...

  8. Improvement of Usage Rate of Good Limb Position in Patients with Acute Hemiplegic%提高偏瘫急性期患者良肢位使用率

    Institute of Scientific and Technical Information of China (English)

    赵秀娟

    2011-01-01

    目的 提高偏瘫急性期患者良肢位使用率.方法 QC小组活动.结果 良肢位使用率由活动前的10.04%提高到活动后的86.92%.结论 偏瘫急性期患者使用良肢位,是脑卒中患者早期康复的重要措施.提高良肢位使用率,对患者的早期康复有着十分重要的现实意义.%Objective To improve usage rate of good - limb - position in patients with acute hemiplegic. Method QC group activities. Result The usage rate of good - limb - position increased from 10.04% to 86.92% after the activity. Conclusion Patients with acute hemiplegia using good - limb - position is an important measure for early rehabilitation of stroke patients. Improvement of usage rate of good - limb - position has important practical significance for early rehabilitation.

  9. Correlation between motor function and activity of daily living in hemiplegic patient%偏瘫患者运动能力与日常生活能力的相关性

    Institute of Scientific and Technical Information of China (English)

    陆晓; 陈旗

    2005-01-01

    背景:偏瘫患者日常生活能力的恢复一定程度上涉及到运动能力的恢复情况,但两者是不是有高度的相关性,既往的研究没有定论.目的:探讨脑卒中偏瘫患者上、下肢运动能力与日常生活能力的相关性.设计:病例分析.单位:南京医科大学第一附属医院康复科.对象:选择2002-08/2003-06在江苏省人民医院康复科住院的脑卒中偏瘫患者30例.男20例,女10例;年龄39~76岁.方法:采用简易Fugl-Meyer运动功能评分方法评定患者运动能力,改良Barthel指数评定患者的日常生活能力.主要观察指标:①脑卒中偏瘫患者运动功能评分和改良Barthel指数评分.②脑卒中偏瘫患者运动能力与日常生活能力的相关性.结果:30例患者进入结果分析.①全身Fugl-Meyer运动功能评分平均为40.96±32.04,上肢运动功能评分平均为21.78±22.87,下肢运动功能评分平均为18.43±10.29.改良Barthel指数评分平均为39.46±25.94.②全身总Fugl-Meyer运动功能评分与改良Barthel指数评分的相关系数为0.65,其中上肢运动功能评分与改良Barthel指数评分的相关系数为0.62,下肢运动功能评分与改良Barthel指数评分的相关系数为0.61.结论:偏瘫患者的运动能力与日常生活能力有一定的相关性,且上、下肢运动能力对日常生活能力的影响几乎相等.%BACKGROUND: The recovery of activity of daily living (ADL) in hemiplegic patient is related to the recovery of motor function to certain extent. But the correlation between two aspects has not been determined yet over the past study.OBJECTIVE: To probe into the correlation between the motor function of upper and lower limbs and ADL of hemiplegic patients after cerebral apoplexy.DESIGN: Case analysis.SETTING: Department of Rehabilitation of First Affiliated Hospital of Nanjing Medical University.PARTICIPANTS: Thirty cases of hemiplegia of cerebral apoplexy were selected from inpatients of Department of

  10. The characteristic appearance and analysis of H reflex in lower extremity of hemiplegic patients with post-stroke%脑卒中后偏瘫患者下肢H反射的特征表现

    Institute of Scientific and Technical Information of China (English)

    李红玲; 徐凌娇; 潘拴珍; 王淑英

    2011-01-01

    目的:通过研究脑卒中后偏瘫患者下肢H反射的特征表现及其与偏瘫下肢肢体功能评定的关系,探讨H反射在脑卒中后偏瘫患者神经电生理评定中的应用价值.方法:选择脑卒中恢复期偏瘫患者40例,分别对患者双侧胫神经和腓总神经所支配的腓肠肌和胫骨前肌进行H反射检查,并对患侧下肢给予临床痉挛指数(CSI)评定.计算胫神经和腓总神经H反射的引出率,并对其所引出的H反射结果以及与CSI的相关性进行比较和分析.结果:患者双侧胫神经所支配的腓肠肌H反射引出率100%,胫骨前肌H反射引出率为10%.患侧胫神经H反射潜伏期平均为(30.09±1.87 )ms;非患侧胫神经H反射潜伏期平均为(31.99±2.31 )ms.患侧胫神经Hmax/Mmax比值均数中位数平均为0.476;非患侧胫神经Hmax/Mmax比值平均为0.189.患侧与非患侧相比,患侧H反射潜伏期缩短,Hmax/Mmax比值增大,且差异有显著性意义(P<0.05).将患侧下肢胫神经H反射潜伏期分别与CSI进行Spearman 秩相关检验,结果显示患侧下肢胫神经H反射潜伏期与CSI不相关,而患侧下肢胫神经Hmax/Mmax比值与CSI存在秩相关关系.结论:用H反射来评价脑卒中后偏瘫患者患侧痉挛的存在和严重程度,比CSI量表更客观、量化.其中Hmax/Mmax 比值是评估下运动神经元兴奋性的较好指标.%Objective: To investigate the value of application of H reflex in electrophysiological evaluation by studying relationship between the characteristic appearance of H reflex and functional assessment of affected lower extremity of hemiplegic patients post-stroke.Method: Forty hemiplegic inpatients in post-stroke convalescence stage were in various severities of limb dysfunction. The H reflex examination was administered on gastrocnemius (GS) innervated by tibial nerve and tibialis anterior (TA) innervated by common peroneal nerve of patients' extremities of both sides. At the same time, affected

  11. Ankle-foot orthosis improves walking ability of hemiplegic patients:a Meta-analysis%踝足矫形器改善偏瘫患者步行能力的荟萃分析

    Institute of Scientific and Technical Information of China (English)

    刘维红; 刘涛; 易莉; 付丽娜

    2014-01-01

    BACKGROUND:Studies have shown that ankle-foot orthosis can increase the feedback on the input information from receptors in the skin of the foot and leg to improve the ankle joint position sense, and promote brain function reorganization. OBJECTIVE:To systematical y evaluate the effect of ankle-foot orthosis on the improvement of walking in hemiplegic patients. METHODS:The Chinese Biomedical Literature Database, CNKI, WanFang Data and VIP database were searched for reports of randomized control ed trials of ankle-foot orthosis to improve walking ability in hemiplegic patients, from the date of establishment of each database to June 2013. The randomized control ed trials which met the criteria were included for the Meta-analysis. RESULTS AND CONCLUSION:A total of 9 randomized control ed trials involving 456 patients were included. Meta-analysis showed that, compared with conventional treatment and drug therapy, ankle foot orthosis via the continuous treatment shows certain advantages to improve lower extremity motor function in hemiplegic patients, life skil s and 10-meter maximum walking speed. Due to a limited number of included documents, the remaining indicators such as walking speed, stride difference and balance function were only for appropriate descriptive analysis. The results suggested that, by improving abnormal gait, walking speed, stride frequency, gait cycle, space asymmetry, ankle muscle spasms and balancing, the ankle-foot orthosis could achieve the goal of improving walking function. Ankle-foot orthoses could not be confirmed to exert the role in the fol owing indicators, including time asymmetry, double support phase prolongation and stride length. This evidence shows that ankle-foot orthoses in hemiplegic patients may promote recovery of motor function of the lower limbs and activities of daily living to a certain extent, but the more high-quality, multi-center randomized control ed trials with large samples are necessary.%背景:已有研究

  12. Entrepreneurial Families : From a Family Enterprise to an Entrepreneurial Family

    OpenAIRE

    Sieger, Philipp; Zellweger, Thomas

    2013-01-01

    How do family firms succeed from generation to generation? While this is likely the most important question for the members of a family business, little is known about the central success factors in creating value across the generations. For this reason, our study aims to explore the secrets of family firms with a long, successful track record and to expand the current state of knowledge. In so doing, we want to look not only at «the family firm» but also broaden our scope to the entire entre...

  13. Families and family therapy in Hong Kong.

    Science.gov (United States)

    Tse, Samson; Ng, Roger M K; Tonsing, Kareen N; Ran, Maosheng

    2012-04-01

    Family therapy views humans not as separate entities, but as embedded in a network of relationships, highlighting the reciprocal influences of one's behaviours on one another. This article gives an overview of family demographics and the implementation of family therapy in Hong Kong. We start with a review of the family demographics in Hong Kong and brief notes on families in mainland China. Demographics show that the landscape has changed markedly in the past decade, with more cross-border marriages, an increased divorce rate, and an ageing overall population - all of which could mean that there is increasing demand for professional family therapy interventions. However, only a limited number of professionals are practising the systems-based approach in Hong Kong. Some possible reasons as to why family therapy is not well disseminated and practised are discussed. These reasons include a lack of mental health policy to support family therapy, a lack of systematic family therapy training, and a shortage of skilled professionals. Furthermore, challenges in applying the western model in Chinese culture are also outlined. We conclude that more future research is warranted to investigate how family therapy can be adapted for Chinese families. PMID:22515459

  14. Families and family therapy in Hong Kong.

    Science.gov (United States)

    Tse, Samson; Ng, Roger M K; Tonsing, Kareen N; Ran, Maosheng

    2012-04-01

    Family therapy views humans not as separate entities, but as embedded in a network of relationships, highlighting the reciprocal influences of one's behaviours on one another. This article gives an overview of family demographics and the implementation of family therapy in Hong Kong. We start with a review of the family demographics in Hong Kong and brief notes on families in mainland China. Demographics show that the landscape has changed markedly in the past decade, with more cross-border marriages, an increased divorce rate, and an ageing overall population - all of which could mean that there is increasing demand for professional family therapy interventions. However, only a limited number of professionals are practising the systems-based approach in Hong Kong. Some possible reasons as to why family therapy is not well disseminated and practised are discussed. These reasons include a lack of mental health policy to support family therapy, a lack of systematic family therapy training, and a shortage of skilled professionals. Furthermore, challenges in applying the western model in Chinese culture are also outlined. We conclude that more future research is warranted to investigate how family therapy can be adapted for Chinese families.

  15. Screening Children for Familial Aortopathies: Tread With Caution.

    Science.gov (United States)

    Richer, Julie; Laberge, Anne-Marie

    2016-01-01

    The knowledge surrounding the genetic etiologies of familial aortopathies and familial thoracic aortic aneurysms and dissections has greatly expanded over the past few years. However, despite these advances, the underlying molecular etiology remains unidentified in most families with nonsyndromic familial aortopathies, and in a subset of families with syndromic aortopathies. In these families we cannot offer a genetic test to establish which family members are at risk. Although the general consensus has been to clinically follow all at-risk family members on the basis of family history, it remains unclear at the age at which to initiate clinical surveillance and the frequency which to screen asymptomatic relatives, whether or not a genetic etiology has been established in the family. These questions are particularly troublesome in a pediatric context where the risks of screening are potentially higher and the likelihood that such screening will provide immediate benefits is often lower than in adults. In this report we aim to: (1) provide clinicians with a framework within which to evaluate risks and benefits of screening asymptomatic pediatric patients for a family history of thoracic aortic aneurysms and dissections; and (2) provide a potential approach for patients (a) in whose family a disease-causing mutation has been identified, (b) patients in whose family the proband is syndromic, but does not have an identified disease-causing mutation, and (c) patients in whose family the proband is nonsyndromic and does not have an identified disease-causing mutation. PMID:26724511

  16. FAMILIAL ADENOMATOUS POLYPOSIS

    Institute of Scientific and Technical Information of China (English)

    XU Ning; DING Yan-qing; XU Li

    1999-01-01

    @@ Clinical History A 41-year-old female was admitted into Nan Fang Hospital for severe abdominal pain with bloody-mucoid stool for a month. The symptoms started a year ago without obvious causes and she did not have any systemic treatment.The patient felt fatigue and loss of weight for the last three months and increased frequency of bloody-mucoid discharge from 2-4 times/day to 10 times/day for the last month. Two weeks ago the patient had a proctoscope with biopsy in Pan Yu people's Hospital. The pathological diagnosis was rectal villous adenoma with focal malignant changes. Rectal examination in this hospital found a rectal mass, 4 cm from the anus, longitudinal growing and occupying a quarter of the circumference. Further colonofiberscope diagnosis was familial polyposis of colon.Family history showed that her father died of lung cancer,her mother died of colonic cancer and her brother and sister were healthy. A total colo-rectectomy with ileostomy was performed.

  17. Why family planning matters.

    Science.gov (United States)

    Jensen, Jeffrey T

    2011-06-01

    Family planning is one of the principle tools of human development. Ensuring that all babies are wanted and planned reduces health care and social costs. Human numbers will increase to 11 billion by the end of this century, and human activities are the leading cause of environmental change that threaten our health and happiness. Therefore, the provision of highly effective contraceptive methods represents an important priority of primary medical care. Since women and men with complicated medical problems remain interested in sex, medical and surgical specialists need to understand how contraception and pregnancy will interact with the underlying condition. This paper discusses the interaction between population growth and the environment, and reviews modern methods of contraception.

  18. 电子生物反馈结合康复训练对脑卒中偏瘫患者步行能力的影响%Effects of electronic biofeedback combined with rehabilitation training on walking ability of hemiplegic patients with stroke

    Institute of Scientific and Technical Information of China (English)

    徐文玉; 苏玉萍; 苏祎; 刘新; 王海燕; 文琦

    2012-01-01

    目的 探讨电子生物反馈结合康复训练对脑卒中偏瘫患者步行能力的影响.方法 选择2010年10月~2012年5月我院收治的脑卒中偏瘫患者60例,随机分为两组,治疗组(30例)采用电子生物反馈结合常规康复训练;对照组(30例)仅接受常规康复训练,评价1个月后的疗效.结果 治疗前后,治疗组和对照组患者步行能力均有提高(均P < 0.01),其中治疗组的疗效优于对照组,差异均有高度统计学意义(均P < 0.01).结论 电子生物反馈结合康复训能显著提高脑卒中偏瘫患者的步行能力.%Objective To investigate the effects of electronic biofeedback combined with rehabilitation training on the walking ability of hemiplegic patients with stroke. Methods 60 hemiplegic patients with stroke from October 2010 to May 2012 in our hospital were randomly divided into two groups. Patients in observation group (n =30) were treated with the electronic biofeedback combined with conventional rehabilitation, and patients in control group (n =30) were only received the conventional rehabilitation training. Curative effect was evaluated after 1 month. Results Before and after the treatment, the patients' walking ability of two groups has been improved (P < 0.01), and the curative effect in observation group was found better than that in control group, the difference swere all statistically significant (all P < 0.01). Conclusion Electronic biofeedback combined with rehabilitation training can significantly increase the walking ability of hemiplegic patients with stroke. Objective To investigate the effects of electronic biofeedback combined with rehabilitation training on the walking ability of hemiplegic patients with stroke. Methods 60 hemiplegic patients with stroke from October 2010 to May 2012 in our hospital were randomly divided into two groups. Patients in observation group (n - 30) were treated with the electronic biofeedback combined with conventional rehabilitation, and

  19. Therapeutic effect and mechanism of neuromuscular facilitation techniques in treatment of hemiplegic stroke patients'osteoporosis%神经肌肉促进技术对脑卒中后偏瘫患者肢体骨质疏松的疗效及作用机制

    Institute of Scientific and Technical Information of China (English)

    贾立坤; 王聪聪; 李秀华; 张秀清

    2014-01-01

    目的:通过检测脑卒中后偏瘫患者的骨密度( BMD )及血清瘦素( LP )、碱性磷酸酶( ALP )、骨钙素(BGP)、白介素-6(IL-6)水平,观察神经肌肉促进技术(NFT)对其肢体骨质疏松的影响。方法将52例脑卒中偏瘫患者随机分为治疗组和对照组,对照组行常规治疗,治疗组在常规治疗基础上早期给予NFT治疗。采用双能X线吸收法检测两组入院第2天及治疗6个月后的BMD,采用ELISA法检测两组血清LP、ALP、BGP、IL-6水平,并进行比较。结果6个月后两组患肢BMD、对照组健肢与患肢BMD比较差异均有统计学意义(P均<0.05);两组血清LP、ALP、BGP、IL-6水平比较差异均有统计学意义(P<0.05或<0.01)。结论 NFT能影响脑卒中后偏瘫患者骨代谢指标,增加偏瘫肢体BMD;NFT对防治脑卒中后偏瘫患者的骨质疏松有效。%Objective To observe the therapeutic effect of neuromuscular facilitation techniques (NFT) on hemiplegic stroke patients'osteoporosis through the detections of serum leptin (LP), alkaline phosphatase (ALP), bone gla-protein (BGP), interleukin-6 (IL-6) and bone mineral density (BMD).Methods Fifty-two hemiplegic stroke patients were randomly divided into 2 groups:the control group which received conventional treatment, and the treatment group which received NFT early be-sides conventional treatment.The serum LP, ALP, BGP, IL-6 and BMD of all cases in the second day of admission and 6 months after the treatment were detected by using ELISA method and double X-ray absorption method, and then contrastive analysis was conducted.Results The BMD of hemiplegic limbs between the two groups 6 months later, and the BMD between the hemiplegic limbs and the healthy limbs in the control group 6 months later all had statistically significant differences (all P<0.05).The se-rum ALP, BGP, IL-6 and LP levels 6 months later all had statistically significant differences

  20. A 'family affair'? The impact of family psychoeducational interventions on depression.

    Science.gov (United States)

    Luciano, Mario; Del Vecchio, Valeria; Giacco, Domenico; De Rosa, Corrado; Malangone, Claudio; Fiorillo, Andrea

    2012-01-01

    Major depressive disorder is reported to be the most common mental disorder, and one of the leading causes of disability-adjusted life years. It causes high levels of family burden and of expressed emotions. Research interest in family functioning in mental disorders has recently shifted from schizophrenia to unipolar and bipolar affective disorders. However, studies on family burden and on the effect of family psychoeducational interventions on major depression are still very few in number and lack a rigorous methodology, clear outcome measures and adequate follow-ups. Despite this, the few available studies on the efficacy of psychoeducational family intervention in unipolar major depression have had promising results. A comprehensive management of unipolar major depression should include psychoeducational family intervention.

  1. 想象足背屈训练对脑梗死偏瘫患者下肢功能恢复的影响%Efficacy of foot dorsiflexion-centered motor imagery training on lower limb function of poststroke hemiplegic patients

    Institute of Scientific and Technical Information of China (English)

    雷艳; 李平; 陈少玲; 王芳; 陈尚杰; 赖伏虎

    2012-01-01

    目的 探讨想象足背屈训练对脑梗死偏瘫患者下肢运动功能恢复的促进作用.方法 将58例脑梗死下肢偏瘫患者随机分为干预组(30例)和对照组(28例),两组患者均接受常规康复治疗,干预组在此基础上进行连续5周的想象足背屈训练.结果 治疗后干预组患者Brunnstrom分期、FMA和MBI评分显著优于对照组(均P<0.01).结论 想象足背屈训练有效促进患者下肢运动功能的恢复及日常生活活动能力的改善.%Objective To observe the effects of foot dorsiflexion-centered motor imagery training on lower limb function of poststroke hemiplegic patients. Methods Fifty-eight poststroke hemiplegic patients were randomly divided into an intervention group of 30 and a control group of 28. All patients were given routine rehabilitation treatment, while the intervention group additionally received foot dorsiflexion-centered motor imagery training for 5 weeks. Results The Brunnstrom staging, the Fugl-Meyer assessment (FMA) score, and the modified Barthel index (MBI) score in the intervention group were significantly higher than those in the control group (P<0. 01 for all). Conclusion Foot dorsiflexion-centered motor imagery training can boost recovery of lower limb function and improve daily life activity of poststroke hemiplegic patients.

  2. What Causes Respiratory Failure?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Causes Respiratory Failure? Diseases and conditions that impair breathing can cause ... injure your lungs. Normal Lungs and Conditions Causing Respiratory Failure Figure A shows the location of the lungs, ...

  3. Causes of Diabetes

    Science.gov (United States)

    ... Help for Diabetes Care Diabetes Statistics Causes of Diabetes What is diabetes? Diabetes is a complex group of diseases with ... and type 2 diabetes. What causes type 1 diabetes? Type 1 diabetes is caused by a lack ...

  4. Families in Transition .

    Science.gov (United States)

    Bundy, Michael L., Ed.; Gumaer, James, Ed.

    1984-01-01

    Focuses on disrupted families and the role of the school counselor in helping children adjust. Describes characteristics of healthy families, and discusses the transition to the blended family, effects of divorce groups on children's classroom behavior, counseling children in stepfamilies, single-parent families, and parenting strengths of single…

  5. Competitiveness of Family Businesses

    NARCIS (Netherlands)

    M.A.A.M. Leenders (Mark); E. Waarts (Eric)

    2001-01-01

    textabstractThe purpose of this study is to systematically examine the advantages and disadvantages of different types of family businesses. We distinguish four different types of family businesses based on their family and business orientation: (1) House of Business, (2) Family Money Machine, (3) F

  6. For Family and Friends: How Can I Help?

    Science.gov (United States)

    Fact Sheet - For Family and Friends: How Can I Help? What Can I Do? It is often difficult for family and friends to know what to do to help a ... say them. This uncertainty can cause family and friends to withdraw and distance themselves, leaving the patient ...

  7. Causes of Infertility

    Science.gov (United States)

    Infertility Causes of male infertility Causes of female infertility Infertility is clinically defined as the inability to conceive naturally after one year of frequent, unprotected intercourse. Approximately 7. ...

  8. The mechanism of functional up-regulation of P2X3 receptors of trigeminal sensory neurons in a genetic mouse model of familial hemiplegic migraine type 1 (FHM-1.

    Directory of Open Access Journals (Sweden)

    Swathi K Hullugundi

    Full Text Available A knock-in (KI mouse model of FHM-1 expressing the R192Q missense mutation of the Cacna1a gene coding for the α1 subunit of CaV2.1 channels shows, at the level of the trigeminal ganglion, selective functional up-regulation of ATP -gated P2X3 receptors of sensory neurons that convey nociceptive signals to the brainstem. Why P2X3 receptors are constitutively more responsive, however, remains unclear as their membrane expression and TRPV1 nociceptor activity are the same as in wildtype (WT neurons. Using primary cultures of WT or KI trigeminal ganglia, we investigated whether soluble compounds that may contribute to initiating (or maintaining migraine attacks, such as TNFα, CGRP, and BDNF, might be responsible for increasing P2X3 receptor responses. Exogenous application of TNFα potentiated P2X3 receptor-mediated currents of WT but not of KI neurons, most of which expressed both the P2X3 receptor and the TNFα receptor TNFR2. However, sustained TNFα neutralization failed to change WT or KI P2X3 receptor currents. This suggests that endogenous TNFα does not regulate P2X3 receptor responses. Nonetheless, on cultures made from both genotypes, exogenous TNFα enhanced TRPV1 receptor-mediated currents expressed by a few neurons, suggesting transient amplification of TRPV1 nociceptor responses. CGRP increased P2X3 receptor currents only in WT cultures, although prolonged CGRP receptor antagonism or BDNF neutralization reduced KI currents to WT levels. Our data suggest that, in KI trigeminal ganglion cultures, constitutive up-regulation of P2X3 receptors probably is already maximal and is apparently contributed by basal CGRP and BDNF levels, thereby rendering these neurons more responsive to extracellular ATP.

  9. Mutation in the α2 isoform of Na,K-ATPase associated Familial Hemiplegic Migraine type 2 (FHM2) leads to elevated contractility and vasodilatation of cerebral arteries in mice

    DEFF Research Database (Denmark)

    Hangaard, Lise; Lykke-Hartmann, Karin; Xie, Zijian;

    is associated with few point mutations in the α2 isoform Na,K-ATPase. Mice bearing a mutation corresponding to the inherited mutation in FHM2 patients (G301R) were used in functional studies of middle cerebral arteries. Middle cerebral arteries from heterozygote G301R mice were not different in total α2 Na...

  10. Familial varieties of primary aldosteronism.

    Science.gov (United States)

    Stowasser, M; Gunasekera, T G; Gordon, R D

    2001-12-01

    1. Improved approaches to screening and diagnosis have revealed primary aldosteronism (PAL) to be much more common than previously thought, with most patients normokalaemic. The spectrum of this disorder has been further broadened by the study of familial varieties. 2. Familial hyperaldosteronism type I (FH-I) is a glucocorticoid-remediable form of PAL caused by the inheritance of an adrenocorticotrophic hormone (ACTH)- regulated, hybrid CYP11B1/CYP11B2 gene. Diagnosis has been greatly facilitated by the advent of genetic testing. The severity of hypertension varies widely in FH-I, even among members of the same family, and has demonstrated relationships with gender, degree of biochemical disturbance and hybrid gene crossover point position. Hormone "day curve" studies show that the hybrid gene dominates over wild-type CYP11B2 in terms of aldosterone regulation. This may be due, in part, to a defect in wild-type CYP11B2-induced aldosterone production. Control of hypertension in FH-I requires only partial suppression of ACTH and much smaller glucocorticoid doses than previously recommended. 3. Familial hyperaldosteronism type II (FH-II) is not glucocorticoid remediable and is not associated with the hybrid gene mutation. Familial hyperaldosteronism type II is clinically, biochemically and morphologically indistinguishable from apparently non-familial PAL. Linkage studies in one informative family did not show segregation of FH-II with the CYP11B2, AT1 or MEN1 genes, but a genome-wide search has revealed linkage with a locus in chromosome 7. As has already occurred in FH-I, elucidation of causative mutations is likely to facilitate earlier detection of PAL. PMID:11903322

  11. Inside the Family Firm

    OpenAIRE

    Bennedsen, Morten; Nielsen, Kasper; Pérez-González, Francisco; Wolfenzon, Daniel

    2005-01-01

    This paper uses a unique dataset from Denmark to investigate (1) the role of family characteristics in corporate decision making, and (2) the consequences of these decisions on firm performance. We focus on the decision to appoint either a family or an external chief executive officer (CEO). We show that a departing CEO’s family characteristics have a strong predictive power in explaining CEO succession decisions: family CEOs are more frequently selected the larger the size of the family, the...

  12. FAMILIES AND HEALTH INTERACTIONS

    OpenAIRE

    Zdanowicz, Nicolas; Lepièce, Brice; Tordeurs, David; Jacques, Denis; Janne, Pascal; Reynaert, Christine

    2011-01-01

    Background: In recent years, psychologists of health have attempted to understand the relations between family dynamics and health. The aim of our study is not only to study relations inside families and couples (relations between family of origin, nuclear and ideal family, current and ideal couple) but also outside between families and couples and different health indicator (physical and mental health, consumption of medications, and frequency of medical consultations). Subjects and methods:...

  13. 医患关系紧张的心理成因探究——以急诊患者家属为例%The Causes of Tension between Doctors and Patients——Take the Family of Emergency Patients for Example

    Institute of Scientific and Technical Information of China (English)

    刘涵

    2013-01-01

    With the development of economy and society, the doctor-patient relationship is increasingly becoming the focus of attention. Take the family of emergency patients for example, we explore from the psychological aspects of the relationship between doctors and patients, such as conflicts of interest, psychological stress, and lack of communication. Analyzes the causes of tension between doctors and patients, put forward its countermeasure. For example, strengthen doctors' a-bility of psychological counseling and psychotherapy for them, strengthen communication, continuously improve their ability and quality.%随着经济社会的发展,医患关系日益成为人们关注的焦点.本文以急诊患者家属为例,从心理方面来探讨医患关系,分析医患关系紧张的原因:利益冲突、心理应激和缺乏沟通等;提出拉近医患关系的见解:医方要注重对患者家属的心理疏导与心理治疗,加强沟通,不断提高自身的能力素质.

  14. Family issues in child anxiety: attachment, family functioning, parental rearing and beliefs.

    Science.gov (United States)

    Bögels, Susan M; Brechman-Toussaint, Margaret L

    2006-11-01

    Family studies have found a large overlap between anxiety disorders in family members. In addition to genetic heritability, a range of family factors may also be involved in the intergenerational transmission of anxiety. Evidence for a relationship between family factors and childhood as well as parental anxiety is reviewed. Four groups of family variables are considered: (I) attachment; (II), aspects of family functioning, such as marital conflict, co-parenting, functioning of the family as a whole, and sibling relationships; (III) parental rearing strategies; and (IV) beliefs that parents hold about their child. The reviewed literature provides evidence for an association between each of these family factors and child anxiety. However, there is little evidence as yet that identified family factors are specific to child anxiety, rather than to child psychopathology in general. Moreover, evidence for a relationship between child anxiety and family factors is predominantly cross-sectional. Therefore, whether the identified family factors cause childhood anxiety still needs to be investigated. Further research that investigates mechanisms mediating the relationship between family factors and child anxiety is also called for. Finally, parental beliefs are identified as important predictors of parental behaviour that have largely not been investigated in relation to child anxiety disorders. PMID:16473441

  15. Unusual causes of intrahepatic cholestatic liver disease

    Institute of Scientific and Technical Information of China (English)

    Elias E Mazokopakis; John A Papadakis; Diamantis P Kofteridis

    2007-01-01

    We report five cases with unusual causes of intrahepatic cholestasis,including consumption of Teucrium polium (family Lamiaceae) in the form of tea,Stauffer's syndrome,treatment with tamoxifen citrate for breast cancer,infection with Coxiella Burnetii (acute Q fever),and infection with Brucella melitensis (acute brucellosis).

  16. Unusual causes of intrahepatic cholestatic liver disease

    OpenAIRE

    Mazokopakis, Elias E.; Papadakis, John A; Kofteridis, Diamantis P.

    2007-01-01

    We report five cases with unusual causes of intrahepatic cholestasis, including consumption of Teucrium polium (family Lamiaceae) in the form of tea, Stauffer’s syndrome, treatment with tamoxifen citrate for breast cancer, infection with Coxiella Burnetii (acute Q fever), and infection with Brucella melitensis (acute brucellosis).

  17. TRANSFORMATION OF FAMILY IN MODERN RUSSIAN SOCIETY

    Directory of Open Access Journals (Sweden)

    Olga Anatolevna Otradnova

    2014-09-01

    Full Text Available The article examines concept of family in Russian society, changes in interpretation of family, connected with modern tendencies and processes in different sociocultural spheres.   The article is structured and has accurate limits of introduction, main part and conclusion. The relevance of the research is caused by present-day crisis tendencies connected with suicide actions, atomization and hedonization of society, value depreciation of family.  The object of the research is to analyze the conception of family and its transformation in condition of modern Russian society. The tasks are to determine the term family, to analyze approaches to understanding of the family and its genesis, detect some peculiarities of modern Russian society, research the transformation of interpretation of family in modern society; the matter of investigation is modern Russian society, the subject is the transformation of family structures; the following methods of research are used: historical and cultural approach, typological method, existential method, common logic procedures. The research contains author’s definition of the term family, historical and cultural analysis and typological explication of the approaches to interpretation of the problem, classification of family structures - which have been formed in Russian society- on the base of statistic and sociological data.   Some interweaving of concept family with the most important existential values (love, freedom, responsibility were investigated and some tendencies for further development of family relationship in Russian society were revealed, its problems and prospect were emphasized. The results of the investigation testify that modern types of matrimonial relationship differ in limitation of functionality, mutual responsibility, thereby it is possible to state that interpretation of family in modern Russian society has transformed.

  18. Family Therapy for the "Truncated" Nuclear Family.

    Science.gov (United States)

    Zuk, Gerald H.

    1980-01-01

    The truncated nuclear family consists of a two-generation group in which conflict has produced a polarization of values. The single-parent family is at special risk. Go-between process enables the therapist to depolarize sharply conflicted values and reduce pathogenic relating. (Author)

  19. Strengthening Family Practices for Latino Families

    Science.gov (United States)

    Chartier, Karen G.; Negroni, Lirio K.; Hesselbrock, Michie N.

    2010-01-01

    This study examined the effectiveness of a culturally adapted Strengthening Families Program (SFP) for Latinos to reduce risks for alcohol and drug use in children. Latino families, predominantly Puerto Rican, with a 9- to 12-year-old child and a parent(s) with a substance abuse problem participated in the study. Pre- and post-tests were conducted…

  20. Influence of Head Acupuncture with Exercise Therapy on SEP Treating Hemiplegic Patient Due to Stroke%头针运动疗法对卒中偏瘫患者体感诱发电位的影响

    Institute of Scientific and Technical Information of China (English)

    李小军; 胡彩虹; 柳文丹; 王玲玲; 郑斌; 王潇依

    2012-01-01

    Objective:The influence of head acupuncture with exercise therapy on rehabilitation of hemiplegic patients due to stroke was observed to optimize the rehabilitation treatment of stroke. Methods; 150 acute stroke cases with stable vital signs and neurological signs without progress were selected and divided into three groups randomly, each group contained 50 cases. Head acupuncture with synchronous exercise therapy, exercise therapy after head acupuncture and head acupuncture after exercise therapy, these three treatments were used in groups respectively. After treating 4 weeks, SEP changes was the objective index as well as the Simple Fugl - Meyer score, Barthel index and neurological deficit scores. Results; After treating 4 weeks, the Fugl - Meyer score and Barthel index in three groups all had been higher and increased the N20 amplitude of SEP on the affected side, showing significant differences compared before treatment (P < 0.001). Compared with control I group and control II group, the increases of Fugl - Meyer score,Barthel index and N20 amplitude of SEP were obviously significant (P < 0.001). The treating marked effective rate of treatment group was higher than that of control I group and control II group (P < 0.05). Conclusion: It is more effective to recover brain functions of hemiplegic patients due to stroke with head acupuncture and synchronous exercise therapy.%目的:观察头针同步进行运动疗法对脑卒中后偏瘫患者康复的影响,优化脑卒中的中西医结合康复治疗方案.方法:选择150例生命体征稳定,神经病学体征不再进展的急性脑卒中患者,随机分为3组,每组各50例,分别采用头针留针时同步进行运动疗法、先头针后进行运动疗法和先运动疗法后进行头针疗法.治疗4周后,以体感诱发电位(SEP)波幅变化为客观指标以及采用简式Fugl - Meyer评分、Barthel指数、神经功能缺损程度评分作为评定标准进行统计学处理.结果:治疗4

  1. Application of virtual reality technique in rehabilitation of hemiplegic upper extremities function of stroke patients%虚拟现实技术在脑卒中患者偏瘫上肢功能康复中的应用

    Institute of Scientific and Technical Information of China (English)

    梁明; 窦祖林; 王清辉; 熊巍; 郑雅丹; 陈颖蓓; 杨琼; 邱雅贤

    2013-01-01

    目的:初步观察虚拟厨房上肢康复训练结合常规作业治疗对脑卒中恢复期患者偏瘫上肢功能康复的临床疗效.方法:将33例脑卒中恢复期偏瘫上肢功能障碍的患者随机分为治疗组(16例)和对照组(17例).对照组接受常规作业治疗每次40min,每日1次,每周5次,共3周.治疗组接受常规作业治疗和虚拟厨房上肢康复训练各20min,每次共40min,每日1次,每周5次,共3周.其余康复治疗如运动疗法和日常生活活动训练等两组均相同.两组患者分别于治疗前、治疗后予以FMA上肢部分(FMA-UE)、MAS上肢部分(MAS-UE)和MBI评定,比较两组的疗效.结果:两组患者治疗后FMA-UE、MAS-UE及MBI的评分均较治疗前提高,治疗前、后各量表的评分差异具有显著性(P< 0.05);与对照组相比,治疗组患者FMA-UE、MBI的评分提高幅度更大(P<0.05).结论:虚拟厨房上肢康复训练结合常规康复作业治疗能更好地改善脑卒中恢复期患者偏瘫上肢的运动功能,更有效地提高患者日常生活活动能力.%Objective: To observe the effect of virtual kitchen upper extremities training combined with traditional occupational therapy on hemiplegic upper extremities function of stroke patients in convalescent phase. Method: Thirty-three stroke patients with hemiplegic upper extremities dysfunction in convalescent phase, were divided into therapy group (n=16) and control group (n=17). The patients in control group accepted traditional occupational therapy, 40 min/d, 5d/week for 3 weeks. The patients in therapy group accepted virtual kitchen upper extremities training and traditional occupational therapy. Each part of virtual reality trainning lasted 20 min and the total was 40 min, the training schedule in therapy group was 40min/rl, 5d/week for 3 weeks. Physical therapy and training of activities of daily living were the same in both groups. Fugl-Meyer assessment of upper extremity (FMA-UE), motor assessment scale

  2. COL1A1基因新的剪接突变c.3208G>A导致Ⅰ型成骨不全一家系%A novel splicing mutation in COL1A1 gene caused type Ⅰ osteogenesis imperfecta in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    赵鼎; 杨俊梅; 郭振欣; 李瑞

    2014-01-01

    目的 探讨一个成骨不全家系中COL1A 1基因的突变.方法 收集一个成骨不全家系的临床资料,采用聚合酶链反应以及直接测序法对所有成员进行COL1A1基因突变的检测,同时在20名健康亲属以及200名非亲属对照中对发现的突变进行检测.结果 RNA剪接分析发现一个c.3208G>A突变,后者造成了一种新的剪接位点,从而导致移码突变.在患者的健康亲属及正常对照中未发现同样的突变.结论 COL1A1基因突变是导致成骨不全的主要原因之一,本研究结果进一步丰富了Ⅰ型胶原基因的突变谱.%Objective To study a family affected with osteogenesis imperfecta for potential mutations in COL1A1 gene.Methods Clinical data of an affected family was collected.Potential mutation of the COL1A1 gene was screened using polymerase chain reaction and direct sequencing.Suspected mutation was detected in 20 unaffected relatives and 200 unrelated healthy controls.Results Analysis of RNA splicing has revealed a c.3208G/A mutation,which created a new splice sites and led to a frameshift mutation.The same mutation was not detected in the unaffected relatives or the 200 healthy controls.Conclusion Mutations of the COL1A1 gene are one of the major causes of osteogenesis imperfecta in Chinese population.Our finding has enriched the mutation spectrum of type Ⅰ collagen genes.

  3. Loosely coupled class families

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

    are expressed using virtual classes seem to be very tightly coupled internally. While clients have achieved the freedom to dynamically use one or the other family, it seems that any given family contains a xed set of classes and we will need to create an entire family of its own just in order to replace one...... of the members with another class. This paper shows how to express class families in such a manner that the classes in these families can be used in many dierent combinations, still enabling family polymorphism and ensuring type safety....

  4. Rehabilitation Effects of BWSTT for Hemiplegic Patient with Stroke at Sequela Phase%减重步行训练对卒中后遗症期偏瘫患者的康复疗效

    Institute of Scientific and Technical Information of China (English)

    江容安

    2015-01-01

    目的:研究卒中后遗症期偏瘫患者进行减重步行康复训练的临床效果。方法选取该院2010年8月—2014年8月期间收治的100例卒中后遗症期偏瘫患者,将所有患者按随机抽样法分为两组各50例。其中50例患者使用常规康复治疗作为对照组,另50例患者在常规康复治疗的基础上进行减重步行训练作为观察组。结果康复训练前观察两组患者FAC、FMA、ADL评分以及辅助步行、独立步行人数所占比例均无差异,P>0.05;而康复训练后观察组辅助步行、独立步行人数所占比例明显高于对照组,P0.05);after treatment of BWSTT, the proportion of conducting the aid walking and independent walking was significantly higher than that of control group(P<0.05);the scores of FAC, FMA and ADL were significantly higher than that of control group(P<0.05). Conclusion For treatment of hemiplegic patient with stroke at sequela phase, BWSTT has a significant clinical efficacy and greatly improved the patients’movement function and recovery of walking ability. It is worthy of clinical application and promotion.

  5. Application of Traditional Chinese Medicine Massage Therapy in Brain Stroke Hemiplegic Patients Nursing%中医穴位按摩疗法在脑中风偏瘫患者护理中的应用

    Institute of Scientific and Technical Information of China (English)

    孟慧芳

    2016-01-01

    目的:探讨临床上对患有脑中风偏瘫的患者实施中医穴位按摩疗法的效果。方法:我院收治的60例脑中风偏瘫患者为研究对象进,均分为实验组和对照组,对对照组患者实施常规护理干预措施,对实验组患者加以实施中医穴位按摩疗法。结果:实验组患者的临床恢复效果明显优于对照组,结果差异明显。结论:在临床上对患有脑中风偏瘫的患者实施中医穴位按摩疗法,能够促进患者的康复速度,在临床上具有广泛的推广意义。%ABSTRACT:Objective:To investigate the clinical for patients with cerebral apoplexy hemiplegia patients of TCM acupoint massage therapy. Methods:In our hospital 60 cases of stroke patients with hemiplegia as the research object, sharing into the experimental group and the control group, the control group received routine nursing intervention measures, the patients in the experimental group be implementation of traditional Chinese medicine acupoint massage therapy. Results:The Clinical recovery of the experimental group was signiifcantly better than that of the control group, the difference was signiifcant.Conclusion:In clinical practice for patients suffering from stroke hemiplegic patients with TCM acupuncture massage therapy, can promote the recovery rate of patients, in clinical practice is widely popularized signiifcance.

  6. 强化家庭干预对改善长期鼻饲致胃食管反流诱发哮喘发作的效果评价%Effectiveness evaluation of family intervention on asthma attacks induced by gastroesophageal reflux which caused by long-term nasal feeding trigger

    Institute of Scientific and Technical Information of China (English)

    毕见涛; 鞠贞会; 徐向英; 李军鹏; 张淑丽; 王丽萍

    2015-01-01

    目的探讨强化家庭干预对改善长期鼻饲致胃食管反流诱发支气管哮喘急性发作的效果。方法选取2010年1月至2014年1月山东省荣成市人民医院收治的49例有哮喘病史留置胃管时间1个月以上,且由于胃食管反流刺激出现1次以上哮喘急性发作而需要社区医疗救助的患者,其中观察组24例(3例退出),对照组25例(1例退出)。由社区医护人员组成家庭管理小组,以集中培训、电话随访、家庭访视等形式,对观察组患者及其家属进行教育、培训、指导、督导;对照组按照社区医疗服务常规电话随访1次/月,家庭访视1次/6个月。干预结束后,对两组患者的反流症状评分、哮喘用药方式、哮喘控制情况及照顾者负担评分进行比较分析。两组间反流症状及照顾者负担评分的比较采用t检验,主要给药方式的比较采用χ2检验,症状控制情况的比较采用秩和检验。结果经1年的强化家庭干预,观察组患者胃食管反流评分明显低于对照组(2.7±0.4,3.5±0.8;t=4.15,P<0.01);观察组控制哮喘的主要用药方式为粉剂吸入和雾化吸入,对照组主要为口服;观察组哮喘控制水平明显优于对照组(观察组控制、部分控制、未控制分别为7、14、0例,对照组分别为0、14、10例;r=16.93,P<0.01);观察组家庭照顾者个人负担、角色负担、总负担评分均明显优于对照组(27.9±6.4、10.2±3.4、38.9±5.1,32.6±5.1、12.7±4.1、43.2±7.4;t=2.74、2.22、2.24,P<0.05或0.01)。结论强化家庭干预能提高家庭照顾者的照顾和管理能力,减轻患者胃食管反流症状,减少患者哮喘急性发作次数,明显减轻家庭照顾者负担。%Objective To investigate the effect of family intervention on acute attack of bronchial asthma induced by gastroesophageal relfux which caused by long-term nasal feeding.Methods Patients

  7. 早期偏瘫肢体综合训练对脑卒中患者生活质量的影响%The Impact of Early Hemiplegic Limb Comprehensive Training on the Quality of Life of Stroke Patients

    Institute of Scientific and Technical Information of China (English)

    张万青; 张小红

    2014-01-01

    目的:探讨早期偏瘫肢体综合训练对脑卒中患者生活质量(QOL)的影响。方法将60例脑卒中患者随机分为治疗组和对照组各30例。两组患者均经过神经内科常规治疗和康复护理,治疗组除接受上述治疗外,病情稳定后早期由康复治疗师进行偏瘫肢体综合训练,治疗前及治疗6周后,分别采用简化Fugl-Meyer评分,Lindmark评分及改良Barthel指数评分(MBl)对两组患者肢体感觉运动功能和ADL能力进行评定。结果经6周治疗后发现治疗组患者肢体感觉(27.38±7.69)分、上肢Fugl-Meyer运动功能(23.06±7.26)分、下肢Fugl-Meyer运动功能(25.74±9.24)分、MBI能力(74.98±14.65)分;对照组患者肢体感觉(18.92±5.79)分、上肢Fugl-Meyer运动功能(25.74±9.24)分、下肢Fugl-Meyer运动功能(17.49±4.86)分、MBI能力(43.21±12.57)分;两组治疗后较治疗前各项评分明显改善,且治疗组改善幅度均显著优于对照组(P<0.05)。结论脑卒中患者早期(病情稳定后48 h)尽早进行偏瘫肢体综合训练,对患者的QOL有显著提高,可提高患者的生存质量。%Objective To explore the impact of early hemiplegic limb comprehensive training on the quality of life (QOL) of stroke patients. Methods 60 patients with stroke were randomly divided into the treatment group and the control group with 30 cases in each. Both groups of patients were given the conventional treatment and rehabilitation of neurology. In addition, the treatment group were given the hemiplegic limb comprehensive training by rehabilitation therapists in the early period of stability. Simplified Fugl-Meyer Assessment Scale, Lindmark score and Modified Barthel Index(MBI) score were used to evaluate the limb sensorimotor function of two groups of patients and the ability of ADL before treatment and after 6 weeks of treatment. Results After 6 weeks of treatment, the limb sensory motor function of

  8. 脑卒中偏瘫患者步行时足底压力中心的特点%Center of pressure excursions while walking for hemiplegic stroke survivors

    Institute of Scientific and Technical Information of China (English)

    刘丽玲; 倪朝民; 岳童; 刘孟; 刘郑; 陈进; 张金龙; 庄建海

    2015-01-01

    Objective To explore the gait characteristics of hemiplegic stroke survivors related to center of pressure (COP) and their correlation with velocity and gait asymmetry.Methods Thirty hemiplegic stroke survivors who could walk at least 10 metres were recruited as the experimental group and thirty healthy elderly persons as tihe control group.All of the participants were asked to walk along a pressure-sensitive mat.Single support time, double support time, anterior-posterior (AP) COP displacement during the single-support phase (AP-COPDS), AP-COP velocity during the single-support phase (AP-COPVS), AP-COPD during the double-support phase (AP-COPDD), AP-COPV during the double-support phase (AP-COPVD) and the single-support-time symmetry ratio were all recorded.Student's t test was used to compare these data between the two groups.Pearson correlation coefficients were computed to assess any correlation with velocity and the single-support-time symmetry ratio.Results Among the control group there was no significant difference in any of the observations between their two limbs.Compared with the control group, the experimental group had shorter single support times for the paretic limb and prolonged single support time for the non-paretic limb.They also showed prolonged double support time, shorter AP-COPDS and AP-COPDD, and slower AP-COPVS and AP-COPVD for both limbs.The differences were all significant.All the COP-related parameters were positively correlated with velocity and the single-support-time symmetry ratio.Conclusions Hemiplegia impairs the ability to transfer load from one foot to the other.Improving that ability can help increase walking speed and improve gait symmetry.COP-related variables can provide useful references in gait evaluation and the rehabilitation of hemiplegic patients following stroke.%目的 探讨脑卒中偏瘫患者步行时足底压力中心(COP)相关参数的特点及其与步速、不对称性的相关性.方法 选取60例能够独

  9. 痉挛型偏瘫脑性瘫痪患儿表面肌电特征%Features of Surface Electromyographic Signal in Children with Hemiplegic Cerebral Palsy

    Institute of Scientific and Technical Information of China (English)

    许晶莉; 潘速跃

    2011-01-01

    Objective To explore the surface electromyography(sEMG) characteristics of biceps brachii and quadriceps during maximum isometric voluntary contraction ( MIVC) in children with hemiplegic cerebral palsy. Methods Self - control design significance test was used in 11 children with hemiplegic cerebral palsy [ 5 male and 6 female; aged (10.09 ± 2.47) years ] in Rehabilitation Center of Guangzhou from Sep. 2008 to Jul. 2010. The FexComp EMG machine and Ag/Agcl electrodes were used. All subjects were measured before the rehabilitation training and took the same posture. Surface electrodes were applied on the skin of both biceps brachii and quadriceps. During the elbows and knees MIVC, the surface electromyograms of the biceps brachii and quadriceps were recorded. The parameters were analyzed in the frequency domain quantificationally,including mean power frequency(MPF) and median frequency(MF). SPSS 13.0 statistical analysis software was used to process data. Results During MIVC, the biceps brachii and quadriceps of the intact side gave a stronger MPF than the affected side(P 0.05). The sEMG signals in the power spectrum of the healthy side were much stronger than the affected side. Conclusions The sEMG of biceps brachii and quadriceps in children with hemiplegic cerebral palsy is abnormal. Electromyographic analysis can provide a satisfactory evaluation of the muscle function.%目的 探讨痉挛型偏瘫脑性瘫痪(脑瘫)患儿肱二头肌、股四头肌在最大自主等长收缩( MIVC)过程中的表面肌电图(sEMG)的特征变化.方法 采用患、健侧自身对照试验方法设计.选择2008年9月-2010年7月在广州市康复训练中心进行康复的痉挛型偏瘫脑瘫患儿11例.其中男5例,女6例;年龄(10.09±2.47)岁.采用FexComp型表面肌电仪及Ag/Agcl表面电极,在康复训练前对受试者进行测试,采样时令所有受试者保持相同姿势.将EMG的表面电极固定于其双侧肱二头肌、股四头肌体表上,在进

  10. Family Theory and Family Health Research: Understanding the family health and illness cycle

    OpenAIRE

    Doherty, William J.

    1991-01-01

    Different family theories can be applied to different aspects of how families experience health and illness. The family health and illness cycle describes the phases of a family's experience, beginning with health promotion and risk reduction, then family vulnerability and disease onset or relapse, family illness appraisal, family acute response, and finally family adaptation to illness and recovery. For each phase, specific family theories that are most appropriate for guiding family and hea...

  11. Xeroderma Pigmentosum - A Family

    Directory of Open Access Journals (Sweden)

    Garg Anush

    2000-01-01

    Full Text Available A family of xeroderma pigmentosum is reported. Four children of different ages were afflicted with varying clinical presentation. Sequential development and progression of the disease from freckling to malignancy within the family are discussed.

  12. Xeroderma Pigmentosum - A Family

    OpenAIRE

    Garg Anush; Singhi M.K

    2000-01-01

    A family of xeroderma pigmentosum is reported. Four children of different ages were afflicted with varying clinical presentation. Sequential development and progression of the disease from freckling to malignancy within the family are discussed.

  13. Importance of Family Routines

    Science.gov (United States)

    ... Listen Español Text Size Email Print Share The Importance of Family Routines Page Content ​Every family needs ... child to sleep. These rituals can include storytelling, reading aloud, conversation, and songs. Try to avoid exciting ...

  14. Resilience of refugee families

    Directory of Open Access Journals (Sweden)

    Batić Dragana

    2012-01-01

    Full Text Available This study attempted to find a correlation between the trauma of family members of war and exile, and the characteristics of family functioning and lasted from 1992-1995. The term “family resilience” refers to the processes of adaptation and coping in the family as a functional unit. This paper presents a study of refugee families from Bosnia, who lived in refugee camps in Macedonia during the war of 1992- 1995. Data were obtained by interviews, observations, and a number of psychological instruments especially for children and parents, which measured the effects of psychological stress and family relationships. Based on the results obtained by quantitative and qualitative analysis, and application of theoretical models of systemic theory and family therapy, existence for four types of refugee families has been found and described, depending on the structure and the level of functionality.

  15. Family Caregiver Alliance

    Science.gov (United States)

    ... path forward. Discover ways to survive, post-caregiving. >> FAMILY CARE NAVIGATOR ─ Click on Your State AL AK ... our Advanced Search FCA Blog A Complex Web: Family Caregiving and Healthcare [Editor's note: This blog was ...

  16. Assessing postpartum family functioning.

    Science.gov (United States)

    Midmer, D; Talbot, Y

    1988-09-01

    The birth of a child requires adaptation and reorganization within the family system in order to accommodate the new family member and to allow the family to continue in its psychosocial development. Knowledge of the normative and transitional changes required at this stage of family life will enhance family practitioners' understanding of some of the common concerns and complaints related to them by various family members during the postpartum period. The Family FIRO model represents a helpful conceptual framework to increase the family physician's understanding of the issues of inclusion, control, and intimacy that are highlighted during the transition to parenthood. The authors briefly present this model and discuss its application to postpartum adjustment and its implications for health-care professionals.

  17. Family Patterns in Dogmatism

    Science.gov (United States)

    Lesser, Harvey; Steininger, Marion

    1975-01-01

    Explored Rokeach's theory that dogmatism develops within the family. Subjects were college students and their parents who took the 40-item Dogmatism Scale. Results indicated that family experiences are one source of children's dogmatism but not the only source. (SDH)

  18. Familial lipoprotein lipase deficiency

    Science.gov (United States)

    ... medlineplus.gov/ency/article/000408.htm Familial lipoprotein lipase deficiency To use the sharing features on this page, please enable JavaScript. Familial lipoprotein lipase deficiency is a group of rare genetic disorders ...

  19. National Military Family Association

    Science.gov (United States)

    ... 931.6632 info@MilitaryFamily.org © 2016 - National Military Family Association Twitter Facebook Pinterest Instagram Charity Navigator Four Star Charity GuideStar Exchange Better Business Bureau Charity Watch Independent Charity of America nonprofit ...

  20. IGSF9 Family Proteins

    DEFF Research Database (Denmark)

    Hansen, Maria; Walmod, Peter Schledermann

    2013-01-01

    The Drosophila protein Turtle and the vertebrate proteins immunoglobulin superfamily (IgSF), member 9 (IGSF9/Dasm1) and IGSF9B are members of an evolutionarily ancient protein family. A bioinformatics analysis of the protein family revealed that invertebrates contain only a single IGSF9 family gene......, the longest isoforms of the proteins have the same general organization as the neural cell adhesion molecule family of cell adhesion molecule proteins, and like this family of proteins, IGSF9 family members are expressed in the nervous system. A review of the literature revealed that Drosophila Turtle...... facilitates homophilic cell adhesion. Moreover, IGSF9 family proteins have been implicated in the outgrowth and branching of neurites, axon guidance, synapse maturation, self-avoidance, and tiling. However, despite the few published studies on IGSF9 family proteins, reports on the functions of both Turtle...