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Sample records for causing familial hemiplegic

  1. 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-...

  2. 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....

  3. 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.

  4. 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

    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...... without aura. This indicates that the pathophysiologic pathways underlying migraine headache in FHM may be different from the common types of migraine and questions whether CGRP antagonists would be effective in the treatment of FHM patients Udgivelsesdato: 2008/9/9...... 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...

  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. 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.)

  13. Severe attacks of familial hemiplegic migraine, childhood epilepsy and ATP1A2 mutation.

    Science.gov (United States)

    Lebas, A; Guyant-Maréchal, L; Hannequin, D; Riant, F; Tournier-Lasserve, E; Parain, D

    2008-07-01

    We studied four members of a family suffering from typical attacks of familial hemiplegic migraine (FHM) caused by a new mutation, R548C, of ATP1A2 gene in exon 12. One individual had also childhood absence epilepsy and generalized tonic-clonic seizures (GTCS). GTCS were followed by a severe attack of hemiplegic migraine at four times. Sodium valproate enabled control of both the epileptic seizures and the most severe FHM attacks. This association of FHM and epileptic seizures and their control with the same treatment suggest similar pathophysiological mechanisms.

  14. 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...

  15. 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...

  16. 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.

  17. Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2.

    Science.gov (United States)

    Capuani, Clizia; Melone, Marcello; Tottene, Angelita; Bragina, Luca; Crivellaro, Giovanna; Santello, Mirko; Casari, Giorgio; Conti, Fiorenzo; Pietrobon, Daniela

    2016-08-01

    Migraine is a common disabling brain disorder. A subtype of migraine with aura (familial hemiplegic migraine type 2: FHM2) is caused by loss-of-function mutations in α2 Na(+),K(+) ATPase (α2 NKA), an isoform almost exclusively expressed in astrocytes in adult brain. Cortical spreading depression (CSD), the phenomenon that underlies migraine aura and activates migraine headache mechanisms, is facilitated in heterozygous FHM2-knockin mice with reduced expression of α2 NKA The mechanisms underlying an increased susceptibility to CSD in FHM2 are unknown. Here, we show reduced rates of glutamate and K(+) clearance by cortical astrocytes during neuronal activity and reduced density of GLT-1a glutamate transporters in cortical perisynaptic astrocytic processes in heterozygous FHM2-knockin mice, demonstrating key physiological roles of α2 NKA and supporting tight coupling with GLT-1a. Using ceftriaxone treatment of FHM2 mutants and partial inhibition of glutamate transporters in wild-type mice, we obtain evidence that defective glutamate clearance can account for most of the facilitation of CSD initiation in FHM2-knockin mice, pointing to excessive glutamatergic transmission as a key mechanism underlying the vulnerability to CSD ignition in migraine.

  18. 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

  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...... 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....

  20. 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.

  1. 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.

  2. 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.

  3. 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

    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.......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...... have associated with disturbed ion homeostasis, altered cellular excitability, neurotransmitter release, and decreased threshold for cortical spreading depression. The common forms of migraine are characterized interictally by a habituation deficit of cortical and subcortical evoked responses that has...

  4. 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

    . 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...... patients do not show hypersensitivity of the NO-cGMP pathway, as characteristically seen in migraine patients with and without aura. This indicates that the pathophysiological pathways underlying migraine headache in FHM-1 may be different from the common types of migraine Udgivelsesdato: 2008/5......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...

  5. 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.

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

    DEFF Research Database (Denmark)

    Bøttger, Pernille; Glerup, Simon; Gesslein, Bodil

    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...... 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...

  7. Impaired plasma membrane targeting or protein stability by certain ATP1A2 mutations identified in sporadic or familial hemiplegic migraine.

    NARCIS (Netherlands)

    Tavraz, N.N.; Durr, K.L.; Koenderink, J.B.; Freilinger, T.; Bamberg, E.; Dichgans, M.; Friedrich, T.

    2009-01-01

    Mutations in three different genes have been implicated in familial hemiplegic migraine (FHM), two of them code for neuronal voltage-gated cation channels, CACNA1A and SCN1A, while the third encodes ATP1A2, the alpha(2)-isoform of the Na(+)/K(+)-ATPase's catalytic subunit, thus classifying FHM as an

  8. 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......(VmeanMCA) (P = 0.77) or AUC(STA) (P = 0.53) between FHM-2 patients and controls. GTN infusion failed to induce more migraine in FHM-2 patients than in controls. The pathophysiological pathways underlying migraine headache in FHM-2 may be different from the common types of migraine Udgivelsesdato: 2008/4...... recorded the following variables: headache intensity on a verbal rating scale; mean flow velocity in the middle cerebral artery (V-meanMCA) by transcranial Doppler; diameter of the superficial temporal artery (STA) by ultrasound. The primary end-points were differences in incidence of migraine headache...

  9. 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...

  10. 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...... 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...

  11. 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...

  12. TNFα levels and macrophages expression reflect an inflammatory potential of trigeminal ganglia in a mouse model of familial hemiplegic migraine.

    Directory of Open Access Journals (Sweden)

    Alessia Franceschini

    Full Text Available Latent changes in trigeminal ganglion structure and function resembling inflammatory conditions may predispose to acute attacks of migraine pain. Here, we investigated whether, in trigeminal sensory ganglia, cytokines such as TNFα might contribute to a local inflammatory phenotype of a transgenic knock-in (KI mouse model of familial hemiplegic migraine type-1 (FHM-1. To this end, macrophage occurrence and cytokine expression in trigeminal ganglia were compared between wild type (WT and R192Q mutant Ca(V2.1 Ca(2+ channel (R192Q KI mice, a genetic model of FHM-1. Cellular and molecular characterization was performed using a combination of confocal immunohistochemistry and cytokine assays. With respect to WT, R192Q KI trigeminal ganglia were enriched in activated macrophages as suggested by their morphology and immunoreactivity to the markers Iba1, CD11b, and ED1. R192Q KI trigeminal ganglia constitutively expressed higher mRNA levels of IL1β, IL6, IL10 and TNFα cytokines and the MCP-1 chemokine. Consistent with the report that TNFα is a major factor to sensitize trigeminal ganglia, we observed that, following an inflammatory reaction evoked by LPS injection, TNFα expression and macrophage occurrence were significantly higher in R192Q KI ganglia with respect to WT ganglia. Our data suggest that, in KI trigeminal ganglia, the complex cellular and molecular environment could support a new tissue phenotype compatible with a neuroinflammatory profile. We propose that, in FHM patients, this condition might contribute to trigeminal pain pathophysiology through release of soluble mediators, including TNFα, that may modulate the crosstalk between sensory neurons and resident glia, underlying the process of neuronal sensitisation.

  13. 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.

  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. 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.

  16. Sporadic Hemiplegic Migraine with Seizures and Transient MRI Abnormalities

    Directory of Open Access Journals (Sweden)

    Harsha Bhatia

    2011-01-01

    Full Text Available Hemiplegic migraines are characterised by attacks of migraine with aura accompanied by transient motor weakness. There are both familial and sporadic subtypes, which are now recognised as separate entities by the International Classification of Headache Disorders, edition II (ICHD-II. Sporadic hemiplegic migraine is a rare variant of migraine, We report a case of sporadic hemiplegic migraine and seizures with MRI features suggestive of cortical hyper intensity and edema on T2 and FLAIR images with no restriction pattern on diffusion and these changes completely resolving over time, suggesting that these changes are due prolonged neuronal depolarization and not of ischemic origin.

  17. 家族性偏瘫型偏头痛的遗传学研究进展%Progress of Genetic Research on Familial Hemiplegic Migraine

    Institute of Scientific and Technical Information of China (English)

    陈芳; 朱希芳; 孙涛; 徐文香; 张青青; 韩笑峰

    2013-01-01

    偏头痛是一种常见的慢性发作性疾病,普通人群中约有6%的男性和18%的女性罹患此病.根据2004年国际头痛协会(HIS)分类标准,偏头痛分为有先兆偏头痛(MA)和无先兆偏头痛(MO).家族性偏瘫型偏头痛(FHM)是少见的常染色体显性遗传、具有先兆症状的偏头痛,是目前惟一明确的单基因遗传偏头痛.本文就FHM的遗传学研究进展及有待解决的问题进行综述,为临床提供参考.%Migraine is a common recurrent neurological disease,and about 6% of men and 18% of women in the general population are affected. In 2004 , the International Headache Society( HIS)divided the migraine into two classes: migraine with aura ( MA )and migraine without aura( MO ). Migraine is a disease with an obviously familial concentration. Its etiology is still unclear. Familial hemiplegic migraine( FHM ), being autosomal dominant inheritance, is the only one known as single gene inheritance. This paper reviews a variety of factors and candidate genes associated with FHM, and focuses on the known genes of CAC-NL1A4 and ATP1A2 in order to provide references for clinical physicians.

  18. Familial hemiplegic migraine type 1 mutations W1684R and V1696I alter G protein-mediated regulation of Ca(V)2.1 voltage-gated calcium channels.

    Science.gov (United States)

    Garza-López, Edgar; Sandoval, Alejandro; González-Ramírez, Ricardo; Gandini, María A; Van den Maagdenberg, Arn; De Waard, Michel; Felix, Ricardo

    2012-08-01

    Familial hemiplegic migraine type 1 (FHM-1) is a monogenic form of migraine with aura that is characterized by recurrent attacks of a typical migraine headache with transient hemiparesis during the aura phase. In a subset of patients, additional symptoms such as epilepsy and cerebellar ataxia are part of the clinical phenotype. FHM-1 is caused by missense mutations in the CACNA1A gene that encodes the pore-forming subunit of Ca(V)2.1 voltage-gated Ca(2+) channels. Although the functional effects of an increasing number of FHM-1 mutations have been characterized, knowledge on the influence of most of these mutations on G protein regulation of channel function is lacking. Here, we explored the effects of G protein-dependent modulation on mutations W1684R and V1696I which cause FHM-1 with and without cerebellar ataxia, respectively. Both mutations were introduced into the human Ca(V)2.1α(1) subunit and their functional consequences investigated after heterologous expression in human embryonic kidney 293 (HEK-293) cells using patch-clamp recordings. When co-expressed along with the human μ-opioid receptor, application of the agonist [d-Ala2, N-MePhe4, Gly-ol]-enkephalin (DAMGO) inhibited currents through both wild-type (WT) and mutant Ca(V)2.1 channels, which is consistent with the known modulation of these channels by G protein-coupled receptors. Prepulse facilitation, which is a way to characterize the relief of direct voltage-dependent G protein regulation, was reduced by both FHM-1 mutations. Moreover, the kinetic analysis of the onset and decay of facilitation showed that the W1684R and V1696I mutations affect the apparent dissociation and reassociation rates of the Gβγ dimer from the channel complex, suggesting that the G protein-Ca(2+) channel affinity may be altered by the mutations. These biophysical studies may shed new light on the pathophysiology underlying FHM-1.

  19. 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 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....

  20. 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.

  1. CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.

    NARCIS (Netherlands)

    Stam, A.H.; Molkot, K.R. van; Kremer, H.P.H.; Gartner, J.; Brown, J.; Leshinsky-Silver, E.; Gilad, R.; Kors, E.E.; Frankhuizen, W.S.; Ginjaar, H.B.; Haan, J.; Frants, R.R.; Ferrari, M.D.; Maagdenberg, A.M. van den; Terwindt, G.M.

    2008-01-01

    Of the 18 missense mutations in the CACNA1A gene, which are associated with familial hemiplegic migraine type 1 (FHM1), only mutations S218L, R583Q and T666M were identified in more than two independent families. Including the four novel families presented here, of which two represent de novo cases,

  2. Rare missense variants in ATP1A2 in families with clustering of common forms of migraine.

    NARCIS (Netherlands)

    Todt, U.; Dichgans, M.; Jurkat-Rott, K.; Heinze, A.; Zifarelli, G.; Koenderink, J.B.; Goebel, I.; Zumbroich, V.; Stiller, A.; Ramirez, A.; Friedrich, T.; Gobel, H.; Kubisch, C.

    2005-01-01

    Migraine is a recurrent neurovascular disease. Its two most common forms-migraine without aura (MO) and migraine with aura (MA)-both show familial clustering and a complex pattern of inheritance. Familial hemiplegic migraine (FHM) is a rare monogenic subform caused by mutations in the calcium channe

  3. 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.

  4. 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.

  5. Family Stressors as the Cause of Rehospitalization in Psychotic Disorders

    Directory of Open Access Journals (Sweden)

    Victoria Omranifard

    2008-09-01

    Full Text Available Objective: This study aimed to describe attributors of family stressors which cause rehospitalizations in patients with psychotic disorders.Materials and methods: In a cross sectional study (during 2006-7 203 randomly selected psychiatric readmitted patients with psychotic diagnosis and registered demographic and psychiatric clinical data were included. Family stressors as the possible cause of readmission were asked through a structured interview by the psychiatrist.Results: Family factors were reported as a cause in 132 (60.6% cases. Poor family support (n=88; 43.3% and family conflict (n=58; 28.6% were the two most prevalent family stressors, respectively. Bivariate analysis showed that admission due to family issues was different among men and women (79.1% vs. 38.7%, respectively p<0.001 and according to job situation (p<0.001, and literacy (p=0.036. According to logistic regression, gender (men was the only predictor of admission due to family issues (OR=5.989, CI=3.220-11.141, p<0.001.Conclusion: Family factors are prevalent causes of return to hospital in patients with psychotic disorders, and this is more prevalent in men. An approach to decrease the marital stressors is needed in patients with psychotic disorders. In this approach, increasing family support and decreasing family conflict are essential.

  6. 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.

  7. 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 ...

  8. KITLG Mutations Cause Familial Progressive Hyper- and Hypopigmentation

    DEFF Research Database (Denmark)

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

    2011-01-01

    Familial progressive hyper- and hypopigmentation (FPHH) is thought to be an autosomal dominant disorder with reduced penetrance. Clinical signs consist of progressive diffuse, partly blotchy hyperpigmented lesions, multiple café-au-lait spots, intermingled with scattered hypopigmented-appearing m......Familial progressive hyper- and hypopigmentation (FPHH) is thought to be an autosomal dominant disorder with reduced penetrance. Clinical signs consist of progressive diffuse, partly blotchy hyperpigmented lesions, multiple café-au-lait spots, intermingled with scattered hypopigmented...... 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...

  9. 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

  10. 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…

  11. Genetics Home Reference: familial hemiplegic migraine

    Science.gov (United States)

    ... on PubMed Colson NJ, Fernandez F, Lea RA, Griffiths LR. The search for migraine genes: an overview ... Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, ...

  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. Rhabdomyolysis following severe hypokalemia caused by familial hypokalemic periodic paralysis

    Science.gov (United States)

    Jung, Young-Lee; Kang, Jae-Young

    2017-01-01

    Rhabdomyolysis continues to appear with increasing frequency and represents a medical emergency requiring rapid appropriate treatment. One of the unusual causes of nontraumatic rhabdomyolysis is hypokalemic periodic paralysis without secondary causes. Primary hypokalemic periodic paralysis is a rare genetic disease characterized by episodic attacks of muscle weakness due to decreases in serum potassium. A 30-year-old woman who had 3 episodic attacks of hypokalemic periodic paralysis was admitted in emergency room with sudden onset symmetrical muscle weakness. After several hours, she started to complain myalgia and severe ache in both calves without any changes. Laboratory test showed markedly elevated creatine phosphokinase, lactic dehydrogenase levels with hypokalemia, rhabdomyolysis resulting from hypokalemia was diagnosed. Here, we report an unusual case of rhabdomyolysis caused by severe hypokalemia, which was suggested a result of familial hypokalemic periodic paralysis. PMID:28255549

  14. A Japanese Family with Congenital Erythrocytosis Caused by Haemoglobin Bethesda.

    Science.gov (United States)

    Tamura, Shinobu; Tamura, Tadahiko; Gima, Hiroya; Nishikawa, Akinori; Okamoto, Yukiharu; Kanazawa, Nobuo; Relvas, Luis; Cunha, Elizabete; Frances McMullin, Mary; Bento, Celeste

    2015-01-01

    We herein present a case of congenital erythrocytosis caused by haemoglobin (Hb) Bethesda in a Japanese family. A 55-year-old asymptomatic man was referred to our hospital for the investigation of erythrocytosis, which was present in other members of his family. The patient's serum erythropoietin level was normal, and the JAK2 V617F mutation was not detected. His P50 value was mildly decreased, thus we suspected the presence of an Hb variant with a high oxygen affinity. The high-performance liquid chromatography analysis showed an abnormal Hb, and by direct sequencing we identified the Hb Bethesda variant in this patient. For the differential diagnosis, we recommend the estimation of the P50 value as a practical and useful test.

  15. Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.

    Science.gov (United States)

    García Segarra, Nuria; Gautschi, Ivan; Mittaz-Crettol, Laureane; Kallay Zetchi, Christine; Al-Qusairi, Lama; Van Bemmelen, Miguel Xavier; Maeder, Philippe; Bonafé, Luisa; Schild, Laurent; Roulet-Perez, Eliane

    2014-07-15

    Mutations in the CACNA1A gene, encoding the α1 subunit of the voltage-gated calcium channel Ca(V)2.1 (P/Q-type), have been associated with three neurological phenotypes: familial and sporadic hemiplegic migraine type 1 (FHM1, SHM1), episodic ataxia type 2 (EA2), and spinocerebellar ataxia type 6 (SCA6). We report a child with congenital ataxia, abnormal eye movements and developmental delay who presented severe attacks of hemiplegic migraine triggered by minor head traumas and associated with hemispheric swelling and seizures. Progressive cerebellar atrophy was also observed. Remission of the attacks was obtained with acetazolamide. A de novo 3 bp deletion was found in heterozygosity causing loss of a phenylalanine residue at position 1502, in one of the critical transmembrane domains of the protein contributing to the inner part of the pore. We characterized the electrophysiology of this mutant in a Xenopus oocyte in vitro system and showed that it causes gain of function of the channel. The mutant Ca(V)2.1 activates at lower voltage threshold than the wild type. These findings provide further evidence of this molecular mechanism as causative of FHM1 and expand the phenotypic spectrum of CACNA1A mutations with a child exhibiting severe SHM1 and non-episodic ataxia of congenital onset.

  16. 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.

  17. Clinical and electroencephalographic abnormalities during the full duration of a sporadic hemiplegic migraine attack.

    Science.gov (United States)

    Chastan, Nathalie; Lebas, Axel; Legoff, Floriane; Parain, Dominique; Guyant-Marechal, Lucie

    2016-11-01

    Electroencephalographic (EEG) abnormalities have been reported during migraine attacks but their spatial and temporal distributions are not well known. We report the temporospatial dynamics of EEG during the full duration of a migraine attack with aura in a 19-year-old woman. She experienced episodes of hemiplegic migraine since the age of 2.5 years, with right hemibody paralysis preceded by visual symptoms. She reported severe pain of the right hemibody just before hemiplegia that was enventually suggestive of possible epileptic seizure, justifying diagnostic video-EEG monitoring. Sporadic hemiplegic migraine was diagnosed in the absence of family history. EEG was normal at the beginning of visual aura. After 15minutes, posterior slow waves appeared over the migrainous hemisphere, spreading progressively towards anterior regions: first the central region (5minutes after onset of contralateral hemiplegia), then the frontal region and over both hemispheres. A new de novo mutation was identified in the SCN1A gene.

  18. Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer

    OpenAIRE

    Gara, Sudheer Kumar; Jia, Li; Merino, Maria J.; Agarwal, Sunita K.; Zhang, Lisa; Cam, Maggie; Patel, Dhaval; Kebebew, Electron

    2015-01-01

    Familial nonmedullary thyroid cancer accounts for 3 to 9% of all cases of thyroid cancer, but the susceptibility genes are not known. Here, we report a germline variant of HABP2 in seven affected members of a kindred with familial nonmedullary thyroid cancer and in 4.7% of 423 patients with thyroid cancer. This variant was associated with increased HABP2 protein expression in tumor samples from affected family members, as compared with normal adjacent thyroid tissue and samples from sporadic ...

  19. Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer.

    Science.gov (United States)

    Gara, Sudheer Kumar; Jia, Li; Merino, Maria J; Agarwal, Sunita K; Zhang, Lisa; Cam, Maggie; Patel, Dhaval; Kebebew, Electron

    2015-07-30

    Familial nonmedullary thyroid cancer accounts for 3 to 9% of all cases of thyroid cancer, but the susceptibility genes are not known. Here, we report a germline variant of HABP2 in seven affected members of a kindred with familial nonmedullary thyroid cancer and in 4.7% of 423 patients with thyroid cancer. This variant was associated with increased HABP2 protein expression in tumor samples from affected family members, as compared with normal adjacent thyroid tissue and samples from sporadic cancers. Functional studies showed that HABP2 has a tumor-suppressive effect, whereas the G534E variant results in loss of function.

  20. 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.

  1. 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

  2. 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.

  3. 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.

  4. 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...

  5. 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

  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

    2016-08-15

    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.

  7. 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.

  8. 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.

  9. 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.)

  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.

  11. A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family

    Science.gov (United States)

    Zhou, Yu; Zhai, Yaru; Huang, Lulin; Gong, Bo; Li, Jie; Hao, Fang; Wu, Zhengzheng

    2016-01-01

    Congenital cataract is the most common cause of the visual disability and blindness in childhood. This study aimed to identify gene mutations responsible for autosomal dominant congenital cataract (ADCC) in a Chinese family using next-generation sequencing technology. This family included eight unaffected and five affected individuals. After complete ophthalmic examinations, the blood samples of the proband and two available family members were collected. Then the whole exome sequencing was performed on the proband and Sanger sequencing was applied to validate the causal mutation in the two family members and control samples. After the whole exome sequencing data were filtered through a series of existing variation databases, a heterozygous mutation c.499Tcongenital cataract population and illustrated the important role of CRYBB2 in the genetics research of congenital cataract. PMID:28025620

  12. 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

  13. 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.

  14. A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family

    Directory of Open Access Journals (Sweden)

    Yu Zhou

    2016-01-01

    Full Text Available Congenital cataract is the most common cause of the visual disability and blindness in childhood. This study aimed to identify gene mutations responsible for autosomal dominant congenital cataract (ADCC in a Chinese family using next-generation sequencing technology. This family included eight unaffected and five affected individuals. After complete ophthalmic examinations, the blood samples of the proband and two available family members were collected. Then the whole exome sequencing was performed on the proband and Sanger sequencing was applied to validate the causal mutation in the two family members and control samples. After the whole exome sequencing data were filtered through a series of existing variation databases, a heterozygous mutation c.499Tfamily and was absolutely absent in 1000 ethnicity-matched control samples. Thus, the heterozygous mutation c.499Tfamily. In conclusion, our findings revealed a novel stopgain mutation c.499T

  15. Understanding the causes and consequences of work-family conflict: an exploratory study of Nigerian employees

    OpenAIRE

    Adisa, T.; Ellis, O.; Gbadamosi, Gbola

    2016-01-01

    Abstract Purpose - An important theme for a 21st century employee is a desire for work and family balance which is devoid of conflict. Drawing on detailed empirical research, this article examines the multi-faceted causes and consequences of work-family conflict in a non-western context (Nigeria). Methodology - The paper uses qualitative data gleaned from the semi-structured interviews of 88 employees (44 university lecturers and 44 medical doctors) in cities in the six geo-political zones of...

  16. Familial aortic coarctation: a rare cause of refractory hypertension in the elderly: a case report.

    Science.gov (United States)

    Lara-Rojas, Carmen M; Bernal-Lopez, M Rosa; Lopez-Carmona, M Dolores; Gomez-Huelgas, Ricardo

    2015-01-01

    We report the first case of late presentation of familial aortic coarctation, a rare cause of hypertension. Diagnosis of familial aortic coarctation in the elderly is exceptional, given that in the absence of endovascular or surgical repair patients do not usually survive beyond 50 years of age. Our case concerns a 72-year-old woman with hypertension of long evolution, control of which improved markedly after endovascular repair of the coarctation. Her son had undergone surgery for repair of aortic coarctation at the age of 23 years.

  17. 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.

  18. 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

  19. Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations.

    Science.gov (United States)

    Scimone, Concetta; Bramanti, Placido; Ruggeri, Alessia; Katsarou, Zoe; Donato, Luigi; Sidoti, Antonina; D'Angelo, Rosalia

    2015-11-01

    Cerebral cavernous malformations are vascular lesions that usually involve brain micro-vessels. They can occur both in a sporadic form and familial one. Causes of familial forms are mutations at three loci: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. Here, we describe a novel CCM3 missense mutation (c.422T>G) detected in two Greek brothers showing multiple lesions at magnetic resonance imaging; to date, only the youngest is symptomatic. Bioinformatics tools showed this novel variant causes a loss of function in Pdcd10 protein due to its localization in the eighth helix and, particularly, affects Leu141, a highly conserved amino acid. Roles of Pdcd10 in angiogenesis regulation and its association with early development of cerebral cavernous malformations were also considered.

  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. 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.

  2. 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…

  3. 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....

  4. 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

  5. A FRMD7 variant in a Japanese family causes congenital nystagmus.

    Science.gov (United States)

    Kohmoto, Tomohiro; Okamoto, Nana; Satomura, Shigeko; Naruto, Takuya; Komori, Takahide; Hashimoto, Toshiaki; Imoto, Issei

    2015-01-01

    Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder that causes a large proportion of childhood visual impairment. Here we describe a missense variant (p.L292P) within a mutation-rich region of FRMD7 detected in three affected male siblings in a Japanese family with X-linked ICN. Combining sequence analysis and results from structural and functional predictions, we report p.L292P as a variant potentially disrupting FRMD7 function associated with X-linked ICN.

  6. 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.

  7. 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.

  8. 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

  9. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

    Science.gov (United States)

    Jiang, Chen; Gai, Nan; Zou, Yongyi; Zheng, Yu; Ma, Ruiyu; Wei, Xianda; Liang, Desheng; Wu, Lingqian

    2017-01-01

    Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. WDR73 is the only gene known to cause GMS, and has never been implicated in other disease. Here we present a Chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly. Whole exome sequencing identified a WDR73 p.W371G missense mutation. The mutation is confirmed to be segregated in this family by Sanger sequencing according to a recessive inheritance pattern. It is predicted to be deleterious by multiple algorithms and affect highly conserved site. Structural modeling revealed conformational differences between the wild type protein and the p.W371G protein. Real-time PCR and Western blotting revealed altered mRNA and protein levels in mutated samples. Our study indicates the novel WDR73 p.W371G missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in recessive mode of inheritance. Our findings imply that microcephaly is a variable phenotype in WDR73-related disease, suggest WDR73 to be a candidate gene of severe intellectual disability and cerebellar hypoplasia, and expand the molecular spectrum of WDR73-related disease.

  10. Impaired mitochondrial function due to familial Alzheimer's disease-causing presenilins mutants via Ca(2+) disruptions.

    Science.gov (United States)

    Toglia, Patrick; Cheung, King-Ho; Mak, Don-On Daniel; Ullah, Ghanim

    2016-05-01

    Mutants in presenilins (PS1 or PS2) is the major cause of familial Alzheimer's disease (FAD). FAD causing PS mutants affect intracellular Ca(2+) homeostasis by enhancing the gating of inositol trisphosphate (IP3) receptor (IP3R) Ca(2+) release channel on the endoplasmic reticulum, leading to exaggerated Ca(2+) release into the cytoplasm. Using experimental IP3R-mediated Ca(2+) release data, in conjunction with a computational model of cell bioenergetics, we explore how the differences in mitochondrial Ca(2+) uptake in control cells and cells expressing FAD-causing PS mutants affect key variables such as ATP, reactive oxygen species (ROS), NADH, and mitochondrial Ca(2+). We find that as a result of exaggerated cytosolic Ca(2+) in FAD-causing mutant PS-expressing cells, the rate of oxygen consumption increases dramatically and overcomes the Ca(2+) dependent enzymes that stimulate NADH production. This leads to decreased rates in proton pumping due to diminished membrane potential along with less ATP and enhanced ROS production. These results show that through Ca(2+) signaling disruption, mutant PS leads to mitochondrial dysfunction and potentially to cell death.

  11. 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.

  12. 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.

  13. 家族性偏瘫型偏头痛合并弥漫性脑水肿一例并文献复习%Familial hemiplegic migraine complicated with diffuse cerebral edema: report of one case and review of literature

    Institute of Scientific and Technical Information of China (English)

    李伟; 陈玉辉; 武冬冬; 徐蕾; 武连哲; 王迎紫; 龚涛

    2014-01-01

    目的 总结分析合并脑水肿偏头痛的临床特点,提高对该类偏头痛发作的认识.方法 报告我院2013年12月收治的1例(国内首例)家族性偏瘫型偏头痛合并弥漫性脑水肿病例资料,结合国外文献报道的19例,进行临床资料总结.结果 20例患者均合并脑水肿,男∶女=1.2∶1;平均发病年龄(16.0±10.2)岁,其中家族性偏瘫型偏头痛8例(40%),散发性偏瘫型偏头痛8例(40%),有先兆偏头痛4例(20%).常见神经系统症状体征依次为瘫痪15例(75%),失语13例(65%),意识障碍12例(60%),视觉异常8例(40%),感觉障碍7例(35%).11例(55%)存在永久性神经功能缺损.结论 伴发脑水肿的偏头痛患者临床表现复杂,神经系统症状体征程度重、持续时间长,应争取早期诊断和治疗,并重视间歇期的预防性治疗.%Objective To analyze clinical characteristics of migraine complicated with cerebral edema.Methods We first time reported a case of familiar hemiplegic migraine complicated with diffuse cerebral edema in China,another 19 cases of migraine complicated with cerebral edema were reported in literature.The clinical characteristics of these 20 cases were analyzed.Results In 20 cases,the male:female ratio was 1.2∶ 1,the mean age of onset was (16.0 ± 10.2) years.All 20 cases were complicated with cerebral edema,among whom 8 (40%) were familiar hemiplegic migraine,8 (40%) were sporadic hemiplegic migraine,4 (20%) were migraine with aura.Common neurological symptoms and signs included paralysis (75%),aphasia (65%),disturbance of consciousness (60%),disordered vision (40%),Paresthesia (35%).Eleven cases (55%) had permanent neurological deficit.Conclusions The clinical manifestations of migraine with cerebral edema are complicated,the neurological disturbance is severe and usually has a long duration.The early diagnosis and treatment is beneficial,and preventive treatment in intermittent period is recommended.

  14. 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.

  15. Computed tomographic studies of the basis pedunculi in chronic hemiplegic patients: Topographic correlation between cerebral lesion and midbrain shrinkage

    Energy Technology Data Exchange (ETDEWEB)

    Warabi, T.; Miyasaka, K.; Inoue, K.; Nakamura, N.

    1987-09-01

    A computed tomographic method for analyzing the shrinkage of the basis pedunculi (BP) due to the secondary degeneration of the descending fibers was applied in correlation to the site of cerebral lesions in 89 chronic hemiplegic patients. Cerebral lesions in the anterior corona radiata or the anterior limb of the capsula interna caused shrinkage of the medial BP. Lesions in the central corona radiata or the genu and posterior limb of the capsula interna caused shrinkage of the central BP, while lesions of the posterior corona radiata or the posterior limb of the capsula interna caused shrinkage of the lateral BP. These results suggested that CT images are able to reveal the principle sites of atrophy of the descending fiber tracts in chronic hemiplegia.

  16. 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

  17. 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.

  18. 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.

  19. 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

  20. 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

  1. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.

    Science.gov (United States)

    Slaugenhaupt, S A; Blumenfeld, A; Gill, S P; Leyne, M; Mull, J; Cuajungco, M P; Liebert, C B; Chadwick, B; Idelson, M; Reznik, L; Robbins, C; Makalowska, I; Brownstein, M; Krappmann, D; Scheidereit, C; Maayan, C; Axelrod, F B; Gusella, J F

    2001-03-01

    Familial dysautonomia (FD; also known as "Riley-Day syndrome"), an Ashkenazi Jewish disorder, is the best known and most frequent of a group of congenital sensory neuropathies and is characterized by widespread sensory and variable autonomic dysfunction. Previously, we had mapped the FD gene, DYS, to a 0.5-cM region on chromosome 9q31 and had shown that the ethnic bias is due to a founder effect, with >99.5% of disease alleles sharing a common ancestral haplotype. To investigate the molecular basis of FD, we sequenced the minimal candidate region and cloned and characterized its five genes. One of these, IKBKAP, harbors two mutations that can cause FD. The major haplotype mutation is located in the donor splice site of intron 20. This mutation can result in skipping of exon 20 in the mRNA of patients with FD, although they continue to express varying levels of wild-type message in a tissue-specific manner. RNA isolated from lymphoblasts of patients is primarily wild-type, whereas only the deleted message is seen in RNA isolated from brain. The mutation associated with the minor haplotype in four patients is a missense (R696P) mutation in exon 19, which is predicted to disrupt a potential phosphorylation site. Our findings indicate that almost all cases of FD are caused by an unusual splice defect that displays tissue-specific expression; and they also provide the basis for rapid carrier screening in the Ashkenazi Jewish population.

  2. A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family.

    Science.gov (United States)

    Singh, Nivedita; Kumble Bhat, Vishwanath; Tiwari, Ankana; Kodaganur, Srinivas G; Tontanahal, Sagar J; Sarda, Astha; Malini, K V; Kumar, Arun

    2017-01-13

    Anencephaly is characterized by the absence of brain tissues and cranium. During primary neurulation stage of the embryo, the rostral part of the neural pore fails to close, leading to anencephaly. Anencephaly shows a heterogeneous etiology, ranging from environmental to genetic causes. The autosomal recessive inheritance of anencephaly has been reported in several populations. In this study, we employed whole-exome sequencing and identified a homozygous missense mutation c.1522C>A (p.Pro508Thr) in the TRIM36 gene as the cause of autosomal recessive anencephaly (APH) in an Indian family. The TRIM36 gene is expressed in the developing brain, suggesting a role in neurogenesis. In silco analysis showed that proline at codon position 508 is highly conserved in 26 vertebrate species, and the mutation is predicted to affect the conformation of the B30.2/SPRY domain of TRIM36. Both in vitro and in vivo results showed that the mutation renders the TRIM36 protein less stable. TRIM36 is known to associate with microtubules. Transient expression of the mutant TRIM36 in HeLa and LN229 cells resulted in microtubule disruption, disorganized spindles, loosely arranged chromosomes, multiple spindles, abnormal cytokinesis, reduced cell proliferation and increased apoptosis as compared to cells transfected with its wild-type counterpart. The siRNA knock down of TRIM36 in HeLa and LN229 cells also led to reduced cell proliferation and increased apoptosis. We suggest that microtubule disruption and disorganized spindles mediated by mutant TRIM36 affect neural cell proliferation during neural tube formation, leading to anencephaly.

  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. 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.

  7. 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.

  8. Damage to lens fiber cells causes TRPV4-dependent Src family kinase activation in the epithelium.

    Science.gov (United States)

    Shahidullah, M; Mandal, A; Delamere, N A

    2015-11-01

    The bulk of the lens consists of tightly packed fiber cells. Because mature lens fibers lack mitochondria and other organelles, lens homeostasis relies on a monolayer of epithelial cells at the anterior surface. The detection of various signaling pathways in lens epithelial cells suggests they respond to stimuli that influence lens function. Focusing on Src Family Kinases (SFKs) and Transient Receptor Potential Vanilloid 4 (TRPV4), we tested whether the epithelium can sense and respond to an event that occurs in fiber mass. The pig lens was subjected to localized freeze-thaw (FT) damage to fibers at posterior pole then the lens was incubated for 1-10 min in Krebs solution at 37 °C. Transient SFK activation in the epithelium was detectable at 1 min. Using a western blot approach, the ion channel TRPV4 was detected in the epithelium but was sparse or absent in fiber cells. Even though TRPV4 expression appears low at the actual site of FT damage to the fibers, SFK activation in the epithelium was suppressed in lenses subjected to FT damage then incubated with the TRPV4 antagonist HC067047 (10 μM). Na,K-ATPase activity was examined because previous studies report changes of Na,K-ATPase activity associated with SFK activation. Na,K-ATPase activity doubled in the epithelium removed from FT-damaged lenses and the response was prevented by HC067047 or the SFK inhibitor PP2 (10 μM). Similar changes were observed in response to fiber damage caused by injection of 5 μl hyperosmotic NaCl or mannitol solution beneath the surface of the posterior pole. The findings point to a TRPV4-dependent mechanism that enables the epithelial cells to detect remote damage in the fiber mass and respond within minutes by activating SFK and increasing Na,K-ATPase activity. Because TRPV4 channels are mechanosensitive, we speculate they may be stimulated by swelling of the lens structure caused by damage to the fibers. Increased Na,K-ATPase activity gives the lens greater capacity to

  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. 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…

  13. TRUNK FUNCTION IN HEMIPLEGIC PATIENTS KINEMATIC ANALYSIS OF TRUNK BENDING AND GAIT PERFORMANCE

    Directory of Open Access Journals (Sweden)

    FumikoKamijo

    2016-06-01

    Full Text Available Background: Trunk function is considered important for stroke patients in rehabilitation, but the significance of this factoris unclear. In this study, we examined trunk function, defined as the ability to keep the trunk stable against gravity during movement. In addition, we aimed to elucidate the relationship between gait performance and trunk function. Methods: The subjects were 14 hemiplegic men and 20 healthy elderly men. Movement was assessed by a three-dimensional motion analysis system focusing on the trunk. The trunk was divided into three parts: the pelvis, the middle trunk, and the upper trunk. The parameters assessed were static standing, anterior tilt of the trunk in the standing position, and gait. We examined the relationship of each of these trunk movement factors with gait speed. All data was analyzed using SPSS program version 21 (p < 0.05. Results: Comparing data of hemiplegic patients to that of normal subjects, during trunk bending, a large rotation angle toward the non-affected side was found and that toward the affected side of the middle trunk at the toe off time of the affected limb during gait was found in hemiplegic patients (p < 0.01. The degrees of both rotation angles were related to the gait performance. Conclusion: The movement of the middle trunk during bending in hemiplegic patients affected gait performance. The results indicated that gravity and movements of lower limbs easily affected the middle trunk. This is an important factor to consider in the rehabilitation of hemiplegic patients.

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

    OpenAIRE

    Vogelaar Ingrid P; van der Post Rachel S; Bisseling Tanya M; van Krieken J Han JM; Ligtenberg Marjolijn JL; Hoogerbrugge Nicoline

    2012-01-01

    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. ...

  16. 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.

  17. A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

    Science.gov (United States)

    Edwards, Noel; Rice, Sarah J; Raman, Shreya; Hynes, Ann Marie; Srivastava, Shalabh; Moore, Iain; Al-Hamed, Mohamed; Xu, Yaobo; Santibanez-Koref, Mauro; Thwaites, David T; Gale, Daniel P; Sayer, John A

    2015-02-01

    End-stage renal disease (ESRD) presenting in a familial autosomal dominant pattern points to an underlying monogenic cause. Nail-patella syndrome (NPS) is an autosomal dominant disorder that may lead to ESRD caused by mutations in the transcription factor LMX1B. Renal-limited forms of this disease, termed nail-patella-like renal disease (NPLRD), and LMX1B nephropathy have recently been described. We report a large family, from the North East of England, with seven affected members with varying phenotypes of renal disease, ranging from ESRD at 28 years of age to microscopic haematuria and proteinuria and relatively preserved renal function. In this family, there were no extra-renal manifestations to suggest NPS. Genome-wide linkage studies and inheritance by descent (IBD) suggested disease loci on Chromosome 1 and 9. Whole exome sequencing (WES) analysis identified a novel sequence variant (p.R249Q) in the LMX1B gene in each of the three samples submitted, which was confirmed using Sanger sequencing. The variant segregated with the disease in all affected individuals. In silico modelling revealed that R249 is putatively located in close proximity to the DNA phosphoskeleton, supporting a role for this residue in the interaction between the LMX1B homeodomain and its target DNA. WES and analysis of potential target genes, including CD2AP, NPHS2, COL4A3, COL4A4 and COL4A5, did not reveal any co-inherited pathogenic variants. In conclusion, we confirm a novel LMX1B mutation in a large family with an autosomal dominant pattern of nephropathy. This report confirms that LMX1B mutations may cause a glomerulopathy without extra-renal manifestations. A molecular genetic diagnosis of LMX1B nephropathy thus provides a definitive diagnosis, prevents the need for renal biopsies and allows at risk family members to be screened.

  18. A new mutation causing autosomal dominant periodic fever syndrome in a Danish family

    DEFF Research Database (Denmark)

    Weyhreter, Heike; Schwartz, Marianne; Kristensen, Tim D;

    2003-01-01

    We describe four members in a family of 8 individuals over 3 generations with the autosomal dominant inherited periodic fever syndrome tumor necrosis factor receptor-associated periodic syndrome (TRAPS). The patients had recurrent episodes of fever, abdominal pain, arthritis, and rash. We examine...

  19. A new mutation causing autosomal dominant periodic fever syndrome in a Danish family

    DEFF Research Database (Denmark)

    Weyhreter, Heike; Schwartz, Marianne; Kristensen, Tim D

    2003-01-01

    We describe four members in a family of 8 individuals over 3 generations with the autosomal dominant inherited periodic fever syndrome tumor necrosis factor receptor-associated periodic syndrome (TRAPS). The patients had recurrent episodes of fever, abdominal pain, arthritis, and rash. We examined...

  20. Exome sequencing reveals VCP mutations as a cause of familial ALS

    Science.gov (United States)

    Johnson, Janel O.; Mandrioli, Jessica; Benatar, Michael; Abramzon, Yevgeniya; Van Deerlin, Vivianna M.; Trojanowski, John Q.; Gibbs, J Raphael; Brunetti, Maura; Gronka, Susan; Wuu, Joanne; Ding, Jinhui; McCluskey, Leo; Martinez-Lage, Maria; Falcone, Dana; Hernandez, Dena G.; Arepalli, Sampath; Chong, Sean; Schymick, Jennifer C.; Rothstein, Jeffrey; Landi, Francesco; Wang, Michael; Calvo, Andrea; Mora, Gabriele; Sabatelli, Mario; Monsurrò, Maria Rosaria; Battistini, Stefania; Salvi, Fabrizio; Spataro, Rossella; Sola, Patrizia; Borghero, Giuseppe; Galassi, Giuliana; Scholz, Sonja W.; Taylor, J. Paul; Restagno, Gabriella; Chiò, Adriano; Traynor, Bryan J.

    2010-01-01

    Summary Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget’s disease and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically-proven case of ALS. VCP protein is essential for maturation of ubiquitin-containing autophagosomes, and mutant VCP toxicity is partially mediated through its effect on TDP-43 protein, a major constituent of ubiquitin inclusions that neuropathologically characterize ALS. Our data broaden the phenotype of IBMPFD to include motor neuron degeneration, suggest that VCP mutations may account for ~1–2% of familial ALS, and represent the first evidence directly implicating defects in the ubiquitination/protein degradation pathway in motor neuron degeneration. PMID:21145000

  1. 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.

  2. 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.

  3. 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...... are distinct, they overlap in phenotypical presentation. Two Na+,K+-ATPase mutations, extending the C-terminus by either 28 residues ("+28" mutation) or an extra tyrosine ("+Y"), are associated with FHM2 and RDP, respectively. We describe here functional consequences of these and other neurological disease......, addressing the question to what extent they cause a change of the intracellular Na+ and K+ concentrations ([Na+]i and [K+]i) in COS cells. C-terminal extension mutants generally showed dramatically reduced Na+ affinity without disturbance of K+ binding, as did other RDP mutants. No phosphorylation from ATP...

  4. 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.

  5. 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)

  6. 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

  7. 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.

  8. 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

  9. 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.

  10. Wheelchair propulsion: descriptive comparison of hemiplegic and two-hand patterns during selected activities.

    Science.gov (United States)

    Kirby, R L; Ethans, K D; Duggan, R E; Saunders-Green, L A; Lugar, J A; Harrison, E R

    1999-01-01

    Most manual wheelchair users with hemiplegia use both the unaffected arm and leg to propel their wheelchairs. The objective of this study was to compare the wheelchair propulsion of subjects using the hemiplegic pattern (one arm and one leg) with subjects using two hands. In a case-controlled study in a kinesiologic laboratory, nine wheelchair users who used the hemiplegic pattern were compared with nine matched controls who used the two-handed pattern. Participants were tested for propelling and stopping the wheelchair, forward and backward, on a level surface and on a 5 degree incline. Video recording was used to assess deviation from the midline, foot slippage, the number of propulsive cycles, and the propelling velocity. Also, on the 5 degree incline, we noted the need for support when unlocking the wheel locks, instances of grabbing the side rail, or rollback between propulsions. The participants using the hemiplegic pattern when propelling up the incline deviated more to the hemiparetic side (P wheelchair users who use the hemiplegic pattern experience more difficulties than those using two hands, some of which may be amenable to improvements in wheelchair prescription and training.

  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. Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

    Science.gov (United States)

    Wielaender, Franziska; Sarviaho, Riika; James, Fiona; Hytönen, Marjo K.; Cortez, Miguel A.; Kluger, Gerhard; Koskinen, Lotta L. E.; Arumilli, Meharji; Kornberg, Marion; Bathen-Noethen, Andrea; Tipold, Andrea; Rentmeister, Kai; Bhatti, Sofie F. M.; Hülsmeyer, Velia; Boettcher, Irene C.; Tästensen, Carina; Flegel, Thomas; Leeb, Tosso; Matiasek, Kaspar; Fischer, Andrea; Lohi, Hannes

    2017-01-01

    The clinical and electroencephalographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in young Rhodesian Ridgeback dogs (6 wk to 18 mo) are described. A fully penetrant recessive 4-bp deletion was identified in the DIRAS family GTPase 1 (DIRAS1) gene with an altered expression pattern of DIRAS1 protein in the affected brain. This neuronal DIRAS1 gene with a proposed role in cholinergic transmission provides not only a candidate for human myoclonic epilepsy but also insights into the disease etiology, while establishing a spontaneous model for future intervention studies and functional characterization. PMID:28223533

  15. Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia

    OpenAIRE

    Slaugenhaupt, Susan A; Blumenfeld, Anat; Gill, Sandra P.; Leyne, Maire; Mull, James; Cuajungco, Math P.; Liebert, Christopher B.; Chadwick, Brian; Idelson, Maria; Reznik, Luba; Robbins, Christiane M.; Makalowska, Izabela; Brownstein, Michael J.; Krappmann, Daniel; Scheidereit, Claus

    2001-01-01

    Familial dysautonomia (FD; also known as “Riley-Day syndrome”), an Ashkenazi Jewish disorder, is the best known and most frequent of a group of congenital sensory neuropathies and is characterized by widespread sensory and variable autonomic dysfunction. Previously, we had mapped the FD gene, DYS, to a 0.5-cM region on chromosome 9q31 and had shown that the ethnic bias is due to a founder effect, with >99.5% of disease alleles sharing a common ancestral haplotype. To investigate the molecular...

  16. The HABP2 G534E Variant Is an Unlikely Cause of Familial Nonmedullary Thyroid Cancer

    OpenAIRE

    Sahasrabudhe, R; Stultz, J; Williamson, J; Lott, P; A. Estrada; Bohorquez, M; Palles, C; Polanco-Echeverry, G; Jaeger, E; Martin, L.; Magdalena Echeverry, M; Tomlinson, I.; Carvajal-Carmona, LG; TCUKIN,

    2016-01-01

    A recent study reported the non-synonymous G534E (rs7080536, allele A) variant in the HABP2 gene as causal in familial non-medullary thyroid cancer (NMTC).The objective of this study was to evaluate the causality of HABP2 G534E in the TCUKIN study, a multi-center population based study of NMTC cases from the British Isles.A case-control analysis of rs7080536 genotypes was performed using 2,105 TCUKIN cases and 5,172 UK controls.Cases comprised 2,105 NMTC cases. Patients sub-groups with papill...

  17. 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.

  18. A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family

    Science.gov (United States)

    Zhang, Liping; Shi, Wei; Song, Liming; Zhang, Xiao; Cheng, Lulu; Wang, Yanfang; Ge, Xianglian; Li, Wei; Zhang, Wei; Min, Qingjie; Jin, Zi-Bing; Qu, Jia; Gu, Feng

    2014-11-01

    Autosomal dominant optic atrophy (ADOA) is the most frequent form of hereditary optic neuropathy and occurs due to the degeneration of the retinal ganglion cells. To identify the genetic defect in a family with putative ADOA, we performed capture next generation sequencing (CNGS) to screen known retinal disease genes. However, six exons failed to be sequenced by CNGS in optic atrophy 1 gene (OPA1). Sequencing of those exons identified a 4 bp deletion mutation (c.2983-1_2985del) in OPA1. Furthermore, we sequenced the transcripts of OPA1 from the patient skin fibroblasts and found there is six-nucleotide deletion (c.2984-c.2989, AGAAAG). Quantitative-PCR and Western blotting showed that OPA1 mRNA and its protein expression have no obvious difference between patient skin fibroblast and control. The analysis of protein structure by molecular modeling suggests that the mutation may change the structure of OPA1 by formation of an alpha helix protruding into an existing pocket. Taken together, we identified an OPA1 mutation in a family with ADOA by filling the missing CNGS data. We also showed that this mutation affects the structural intactness of OPA1. It provides molecular insights for clinical genetic diagnosis and treatment of optic atrophy.

  19. Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.

    Science.gov (United States)

    Yang, W; Lee, P P W; Thong, M-K; Ramanujam, T M; Shanmugam, A; Koh, M-T; Chan, K-W; Ying, D; Wang, Y; Shen, J J; Yang, J; Lau, Y L

    2015-12-01

    Familial multiple intestinal atresias is an autosomal recessive disease with or without combined immunodeficiency. In the last year, several reports have described mutations in the gene TTC7A as causal to the disease in different populations. However, exact correlation between different genotypes and various phenotypes are not clear. In this study, we report identification of novel compound heterozygous mutations in TTC7A gene in a Malay girl with familial multiple intestinal atresias and severe combined immunodeficiency (MIA-SCID) by whole exome sequencing. We found two mutations in TTC7A: one that destroyed a putative splicing acceptor at the junction of intron 17/exon 18 and one that introduced a stop codon that would truncate the last two amino acids of the encoded protein. Reviewing the recent reports on TTC7A mutations reveals correlation between the position and nature of the mutations with patient survival and clinical manifestations. Examination of public databases also suggests carrier status for healthy individuals, making a case for population screening on this gene, especially in populations with suspected frequent founder mutations.

  20. 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.

  1. 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

  2. Methylenetetrahydrofolate reductase mutations, a genetic cause for familial recurrent neural tube defects

    Directory of Open Access Journals (Sweden)

    Laxmi V Yaliwal

    2012-01-01

    Full Text Available Methylenetetrahydrofolate reductase (MTHFR gene mutations have been implicated as risk factors for neural tube defects (NTDs. The best-characterized MTHFR genetic mutation 677C→T is associated with a 2-4 fold increased risk of NTD if patient is homozygous for this mutation. This risk factor is modulated by folate levels in the body. A second mutation in the MTHFR gene is an A→C transition at position 1298. The 1298A→C mutation is also a risk factor for NTD, but with a smaller relative risk than 677C→T mutation. Under conditions of low folate intake or high folate requirements, such as pregnancy, this mutation could become of clinical importance. We present a case report with MTHFR genetic mutation, who presented with recurrent familial pregnancy losses due to anencephaly/NTDs.

  3. 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.

  4. 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

  5. A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation

    Directory of Open Access Journals (Sweden)

    Faruk Incecik

    2013-01-01

    Full Text Available Sjögren-Larsson syndrome (SLS is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2 gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T > A (p.Y279N mutation in exon 6 in two patients.

  6. 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

  7. The HABP2 G534E Variant Is an Unlikely Cause of Familial Nonmedullary Thyroid Cancer

    Science.gov (United States)

    Sahasrabudhe, Ruta; Stultz, Jacob; Williamson, John; Lott, Paul; Estrada, Ana; Bohorquez, Mabel; Palles, Claire; Polanco-Echeverry, Guadalupe; Jaeger, Emma; Martin, Lynn; Echeverry, Maria Magdalena; Tomlinson, Ian

    2016-01-01

    Context: A recent study reported the nonsynonymous G534E (rs7080536, allele A) variant in the HABP2 gene as causal in familial nonmedullary thyroid cancer (NMTC). Objective: The objective of this study was to evaluate the causality of HABP2 G534E in the TCUKIN study, a multicenter population-based study of NMTC cases from the British Isles. Design and Setting: A case-control analysis of rs7080536 genotypes was performed using 2105 TCUKIN cases and 5172 UK controls. Participants: Cases comprised 2105 NMTC cases. Patient subgroups with papillary (n = 1056), follicular (n = 691), and Hürthle cell (n = 86) thyroid cancer cases were studied separately. Controls comprised 5172 individuals from the 1958 Birth Cohort and the National Blood Donor Service study. The controls had previously been genotyped using genome-wide single nucleotide polymorphism arrays by the Wellcome Trust Case Control Consortium study. Outcome Measures: Association between HABP2 G534E (rs7080536A) and NMTC risk was evaluated using logistic regression. Results: The frequency of the HABP2 G534E was 4.2% in cases and 4.6% in controls. We did not detect an association between this variant and NMTC risk (odds ratio [OR] = 0.896; 95% confidence interval, 0.746–1.071; P = .233). We also failed to detect an association between the HABP2 G534E and cases with papillary (1056 cases; G534E frequency = 3.5%; OR = 0.74; P = .017), follicular (691 cases; G534E frequency = 4.7%; OR = 1.00; P = 1.000), or Hürthle cell (86 cases; G534E frequency = 6.3%; OR = 1.40; P = .279) histology. Conclusions: We found that HABP2 G534E is a low-to-moderate frequency variant in the British Isles and failed to detect an association with NMTC risk, independent of histological type. Hence, our study does not implicate HABP2 G534E or a correlated polymorphism in familial NMTC, and additional data are required before using this variant in NMTC risk assessment. PMID:26691890

  8. 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; ZHOU Xueyan; LI Yang; ZHAO Dan; LIANG Shuyuan; ZHAO Xuejian; YANG Baoxue

    2005-01-01

    Urea transporters are a group of proteins that facilitate urea movement across biological membranes. Kidd blood group (JK antigen) and urea transporter of human erythrocytes are carried by the same protein UT-B. To investigate the molecular basis of the Jknull phenotype in the Chinese population, blood samples from Chinese individuals were screened using the 2 mol/L urea solution hemolysis test. Urea and water permeability of erythrocytes membrane was measured by stopped-flow light scattering. Genomic DNA was extracted from lymphocytes. UT-B gene of Jknull's family was analyzed using genomic PCR by primers designed to cover sequences of all exons and exon-intron boundaries in human UT-B gene. One Jknull subject was found from twenty thousand screened Chinese individuals, and it was confirmed that this individual did not express the erythrocyte urea transporter. Genomic sequence analysis of the Jknull individual showed that there were two point mutations, G→C, which is novel, and G→A, at the 3(-acceptor splice site (AG) of intron 5 of UT-B gene. Exon 6 is spliced out in the UT-B transcript due to either of these mutations. Water permeability in Jknull erythrocytes (Pf, ~0.00037 cm/s) was significantly lower than that in normal erythrocytes (Pf, ~0.00062 cm/s) after HgCl2 incubation, providing evidence for UT-B facilitated water transport in human erythrocytes.

  9. 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.

  10. A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation.

    Science.gov (United States)

    Orr, Nathan; Arnaout, Rima; Gula, Lorne J; Spears, Danna A; Leong-Sit, Peter; Li, Qiuju; Tarhuni, Wadea; Reischauer, Sven; Chauhan, Vijay S; Borkovich, Matthew; Uppal, Shaheen; Adler, Arnon; Coughlin, Shaun R; Stainier, Didier Y R; Gollob, Michael H

    2016-04-12

    Atrial fibrillation (AF), the most common arrhythmia, is a growing epidemic with substantial morbidity and economic burden. Mechanisms underlying vulnerability to AF remain poorly understood, which contributes to the current lack of highly effective therapies. Recognizing mechanistic subtypes of AF may guide an individualized approach to patient management. Here, we describe a family with a previously unreported syndrome characterized by early-onset AF (age <35 years), conduction disease and signs of a primary atrial myopathy. Phenotypic penetrance was complete in all mutation carriers, although complete disease expressivity appears to be age-dependent. We show that this syndrome is caused by a novel, heterozygous p.Glu11Lys mutation in the atrial-specific myosin light chain gene MYL4. In zebrafish, mutant MYL4 leads to disruption of sarcomeric structure, atrial enlargement and electrical abnormalities associated with human AF. These findings describe the cause of a rare subtype of AF due to a primary, atrial-specific sarcomeric defect.

  11. 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

  12. 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.

  13. 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.

  14. 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.

  15. 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.

  16. An evaluation of the hemiplegic subject based on the Bobath approach. Part II: The evaluation protocol.

    Science.gov (United States)

    Corriveau, H; Guarna, F; Dutil, E; Riley, E; Arsenault, A B; Drouin, G

    1988-01-01

    A protocol of evaluation of the hemiplegic patient based on the Bobath approach to treatment is presented. Six parameters are evaluated: sensorium, muscle tone, reflex activity, active movement, postural reactions and pain. The first and last of these are included because of their possible effects on the motor recovery process of the hemiplegic patient. The other four are directly borrowed from the Bobath modality of treatment. For each of these parameters, the procedures are given for its evaluation along with its respective rating scales. These scales are of an ordinal nature ranging from 0 to 3. It is suggested that this new evaluation protocol is fully compatible with the therapeutic modality developed by Bobath and as well is adequate to quantify patient progress in the principle aspects treated by this well used rehabilitation approach.

  17. 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.

  18. 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.

  19. 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.

  20. Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment

    Science.gov (United States)

    Wang, Guo-Jian; Xu, Jin-Cao; Su, Yu

    2017-01-01

    Autosomal recessive hearing impairment with postlingual onset is rare. Exceptions are caused by mutations in the TMPRSS3 gene, which can lead to prelingual (DFNB10) as well as postlingual deafness (DFNB8). TMPRSS3 mutations can be classified as mild or severe, and the phenotype is dependent on the combination of TMPRSS3 mutations. The combination of two severe mutations leads to profound hearing impairment with a prelingual onset, whereas severe mutations in combination with milder TMPRSS3 mutations lead to a milder phenotype with postlingual onset. We characterized a Chinese family (number FH1523) with not only prelingual but also postlingual hearing impairment. Three mutations in TMPRSS3, one novel mutation c.36delC [p.(Phe13Serfs⁎12)], and two previously reported pathogenic mutations, c.916G>A (p.Ala306Thr) and c.316C>T (p.Arg106Cys), were identified. Compound heterozygous mutations of p.(Phe13Serfs⁎12) and p.Ala306Thr manifest as prelingual, profound hearing impairment in the patient (IV: 1), whereas the combination of p.Arg106Cys and p.Ala306Thr manifests as postlingual, milder hearing impairment in the patient (II: 2, II: 3, II: 5), suggesting that p.Arg106Cys mutation has a milder effect than p.(Phe13Serfs⁎12). We concluded that different combinations of TMPRSS3 mutations led to different hearing impairment phenotypes (DFNB8/DFNB10) in this family. PMID:28246597

  1. 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.

  2. A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.

    Science.gov (United States)

    Luedecke, Daniel; Becktepe, Jos S; Lehmbeck, Jan T; Finckh, Ulrich; Yamamoto, Raina; Jahn, Holger; Boelmans, Kai

    2014-04-30

    Mutations in the presenilin 1 (PS1) gene (PSEN1) are associated with familial Alzheimer disease (FAD). Here, we report on a 50-year-old patient presenting with progressive deterioration of his short-term memory and a family history of early-onset dementia. Diagnostic workup included a neuropsychological examination, structural magnetic resonance (MR) imaging, cerebrospinal fluid (CSF) biomarkers including total tau, phosphorylated tau, and Aβ42 levels, as well as sequencing relevant fragments of the genes PSEN1, PSEN2, and APP. Additionally, we were able to obtain archival paraffin-embedded cerebellar tissue from the patient's father for cosegregation analysis. Clinical, neuropsychological and MR imaging data were indicative of early-onset Alzheimer disease. Furthermore, CSF biomarkers showed a typical pattern for Alzheimer disease. DNA sequencing revealed a heterozygous nucleotide transition (c.824C>T) in exon 8 of PSEN1, leading to an amino acid change from alanine to valine at codon 275 (Ala275Val). The same mutation was found in an archival brain specimen of the patient's demented father, but not in a blood sample of the non-demented mother. This mutation alters a conserved residue in the large hydrophilic loop of PS1, suggesting pathogenic relevance. Cosegregegation analysis and the structural as well as the presumed functional role of the mutated and highly conserved residue suggest FAD causing characteristics of the novel PSEN1 mutation Ala275Val.

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)] in a Chinese Family as a Cause of Familial Erythrocytosis.

    Science.gov (United States)

    Ip, Ka Ling Rosalina; So, Jason Chi-Chiu; Law, Man-Fai; Wong, Raymond S M; Tam, Ho Chi; Ng, Margaret H L

    2016-08-01

    Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)], is a rare high oxygen affinity hemoglobin (Hb) variant that causes erythrocytosis, previously described in a few Mexican-American families. Here we report the first Chinese family with this Hb variant presenting with unexplained familial erythrocytosis. No evidence of hemolysis was seen. A locally adapted approach to the diagnostic process in clinical laboratories is discussed. Molecular analysis has an important role in confirmation of the diagnosis. Proper identification of this rare but clinically significant Hb variant is helpful for family counseling and will help to guide appropriate management of absolute erythrocytosis.

  8. 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.

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia

    Directory of Open Access Journals (Sweden)

    E. L. Dadali

    2016-01-01

    Full Text Available The clinical and genetic features of hereditary motor and sensory neuropathy (HMSN; Charcot–Marie–Tooth disease, CMT caused by newly identified missense mutation s.65G>T (p.Pro22His in NEFL gene located on the chromosome 8р21.2 are described. The disease was diagnosed in a large family from Ust-Dzhegutinsky district of the Karachay-Cherkess Republic with the segregation of the disease in four generations. The prevalence of the HMSN in that district was found to be 1:4340 persons, including 1:3376 among Karachays. The clinical picture of the disease was characterized by onset at the age of 11–14 years, weakness in foot muscles and steppage gait. The specific features in the majority of patients were the absence of major sensory disturbances, as well as long-term preserved distal arm muscles. Nerve conduction velocity in the median nerve varied from 30 to 42 m/s, which corresponds to values in patients with CMT2E, previously described.

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

    OpenAIRE

    Atilla Senih MAYDA; Tugba ARSLAN; Hakan Bahadir BOZKURT; Ilker DEDELI; Meryem Ozlem OZKAN

    2005-01-01

    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 ca...

  15. 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

  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. 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.

  19. 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

  20. 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

    the processing of the LDL receptor protein. Using flow cytometric analysis of the transfected cells a decreased binding and internalization of LDL by the mutant receptor was documented. By means of a mutation-specific PCR-based assay the Glu119-Lys mutation was not detected in another 85 apparently unrelated...... 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...

  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. 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。

  3. 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

    . The distinctive radiological signs and the X-linked mode of inheritance make it easy to diagnose. Here a four-generation Chinese SEDT family has been analyzed and the disease-causing mutation has been found. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA...

  4. 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.

  5. Effect of the modulation of optic flow speed on gait parameters in children with hemiplegic cerebral palsy.

    Science.gov (United States)

    Lim, Hyungwon

    2014-01-01

    [Purpose] We investigated the effects of modulation of the optic flow speed on gait parameters in children with hemiplegic cerebral palsy. [Methods] We examined 10 children with hemiplegic cerebral palsy. The children underwent gait analysis under 3 different conditions of optic flow speed: slow, normal, and fast optic flow speed. The children walked across the walkway of a GAITRite system, while watching a virtual reality screen, and walking velocity, cadence, stride length, step length, single support time, and double support time were recorded. [Results] Compared with the other applied flow speed conditions, the fast optic flow speed (2 times the normal speed) significantly increased walking velocity, cadence, normalized step length, base of support, and single support cycle of both the paretic and non-paretic lower limbs. Moreover, compared with the other applied flow speed conditions, the slow optic flow speed (0.25 times the normal speed) yielded a significantly decreased walking velocity, cadence, normalized step length, base of support, and single support cycle for both the paretic and non-paretic lower limbs. [Conclusion] The gait parameters of children with hemiplegic cerebral palsy are altered by modulation of the optic flow speed. Thus, we believe that gait training involving modulation of the optic flow speed is feasible and suitable for resolving abnormal gait patterns in children with hemiplegic cerebral palsy.

  6. Fingertip force planning during grasp is disrupted by impaired sensorimotor integration in children with hemiplegic cerebral palsy

    NARCIS (Netherlands)

    Gordon, A.M.; Charles, J.; Steenbergen, B.

    2006-01-01

    In the present study we examine the ability of children with hemiplegic cerebral palsy (CP) to use anticipatory control of fingertip forces during grasping, and whether anticipatory control is facilitated by lifts with the contralateral hand. Eight children with CP (age 4-13) were asked to perform s

  7. 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…

  8. 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.

  9. Relationship between the Berg Balance Scale and Static Balance Test in Hemiplegic Patients with Stroke.

    Science.gov (United States)

    Suzuki, Makoto; Fujisawa, Hiroyuki; Machida, Yooichiro; Minakata, Shin

    2013-08-01

    [Purpose] The purpose of this study was to analyze the relationship between results of the Berg Balance Scale (BBS) and Static Balance Test (SBT) in hemiplegic patients with stroke. [Subjects] The subjects were 39 hemiplegic patients (25 men, 14 women; mean age, 69.4 ± 11.0 years) with stroke that had occurred within the preceding 6 months and who had good understanding of verbal instructions. [Methods] The SBT consists of five posture-holding tasks (sitting, stride standing, close standing, one-foot standing on the unparalyzed leg, and one-foot standing on the paralyzed leg). Four grades, 1-4, are used to judge the ability of patients to hold these postures. The SBT and BBS were each implemented, and the relationship between test results was analyzed using correlation coefficients. [Results] The correlation coefficient for the BBS score and SBT score was 0.87. Thus, a strong correlation was seen between the BBS and SBT. [Conclusion] The SBT is thought to be an assessment index that can predict overall balance ability.

  10. 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.

  11. 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.

  12. 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.

  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 Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family

    Institute of Scientific and Technical Information of China (English)

    Jia-Ze Tan; Yuan Man; Fei Xiao

    2016-01-01

    Background:Congenital myasthenic syndromes are a group orrare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction.Here,we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome (SCCMS).Methods:Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined,and next-generation sequencing followed by direct sequencing was carried out.Results:The patients revealed variability in clinical and electrophysiological features.However,weakness,scoliosis,and repetitive-compound muscle action potential were found in all affected members in the family.A heterozygous C>T missense mutation at nucleotide 865 in acetylcholine receptor epsilon-subunit (CHRNE) gene that causes a leucine-to-phenylalanine substitution at position 289 (L289F) was found.Conclusions:We reported a SCCMS family of Chinese origin.In the family,classical clinical phenotype with phenotypic variability among different members was found.Genetic testing could help diagnose this rare disease.

  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. Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testing.

    Science.gov (United States)

    Summers, Kim M; Bokil, Nilesh J; Lu, Foong Teng; Low, Jiun Tsuen; Baisden, John M; Duffy, David; Radford, Dorothy J

    2010-03-01

    A large Australian family affected with long QT syndrome (LQTS) was studied. The medical characteristics of the 16 clinically affected members were consistent with LQT1. A previously identified mutation in KCNQ1 was found in 12 affected individuals and 1 unaffected infant but absent in 4 affected family members. A haplotype consisting of specific alleles for microsatellites flanking in KCNQ1 was associated with the mutation. This was absent from the four affected individuals without the mutation, who had three different haplotypes in this region, indicating that LQTS is unlikely to be segregating with KCNQ1 in these anomalous family members. A genome scan revealed 12 regions where all four of these individuals shared alleles. One region on chromosome 21 contained the KCNE1, KCNE2, KCNJ6, and KCNJ15 genes. A common variant of KCNE1 was segregating in the family but did not explain the anomalous cases. A candidate region on chromosome 7 contained the AKAP9 and KCND2 genes. A previously reported mutation in the N-terminal Yotiao region of AKAP9 was absent from the family. No evidence was found implicating any other known or suspected LQTS gene. This family shows that there remain unidentified genetic causes of LQTS which are clinically significant and highlights the difficulties associated with genetic testing in LQTS, since we cannot rule out risk in individuals who are negative for the known mutation in KCNQ1 without knowing the second disease locus.

  17. A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation

    Directory of Open Access Journals (Sweden)

    Marco Ceccanti

    2016-11-01

    Full Text Available Tangier disease is an autosomal recessive disorder characterized by severe reduction in HDL-cholesterol and peripheral lipid storage. We describe a family with c.5094C>A p.Tyr16980* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia, demyelinating multineuropathy and reduction in intraepidermal small fibers innervation. In the proband patient, cardiac involvement determined a myocardial infarction; lipid storage was demonstrated in gut, cornea and aortic wall. The reported ABCA1 mutation has never been described before in a Tangier family.

  18. 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

    PURPOSE: Aphakia is the complete absence of any lens in the eye, either due to surgical removal of the lens as a result of a perforating wound or ulcer, or due to a congenital anomaly. The purpose of this study was to elucidate the molecular genetics for a large consanguineous Pakistani family...... 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...

  19. 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…

  20. 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

  1. A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family

    Directory of Open Access Journals (Sweden)

    Jing Liu

    2016-01-01

    Full Text Available Background: Congenital nystagmus (CN is characterized by conjugated, spontaneous, and involuntary ocular oscillations. It is an inherited disease and the most common inheritance pattern is X-linked CN. In this study, our aim is to identify the disease-causing mutation in a large sixth-generation Chinese family with X-linked CN. Methods: It has been reported that mutations in four-point-one, ezrin, radixin, moesin domain-containing 7 gene (FRMD7 and G protein-coupled receptor 143 gene (GPR143 account for the majority patients of X-linked nystagmus. We collected 8 ml blood samples from members of a large sixth-generation pedigree with X-linked CN and 100 normal controls. FRMD7 and GPR143 were scanned by polymerase chain reaction (PCR-based DNA sequencing assays, and multiplex PCR assays were applied to detect deletions. Results: We identified a previously unreported deletion covering 7 exons in GPR143 in a Chinese family. The heterozygous deletion from exon 3 to exon 9 of GPR143 was detected in all affected males in the family, while it was not detected in other unaffected relatives or 100 normal controls. Conclusions: This is the first report of molecular characterization in GPR143 gene in the CN family. Our results expand the spectrum of GPR143 mutations causing CN and further confirm the role of GPR143 in the pathogenesis of CN.

  2. Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene

    DEFF Research Database (Denmark)

    Toustrup, Lise Bols; Zhou, Yan; Kvistgaard, Helene

    2017-01-01

    Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is caused by variants in the arginine vasopressin (AVP) gene. Here we report the generation of induced pluripotent stem cells (iPSCs) from a 42-year-old man carrying an adFNDI causing variant in exon 1 of the AVP gene using...... lentivirus-mediated nuclear reprogramming. The iPSCs carried the expected variant in the AVP gene. Furthermore, the iPSCs expressed pluripotency markers; displayed in vitro differentiation potential to the three germ layers and had a normal karyotype consistent with the original fibroblasts. This iPSC line...

  3. 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.

  4. Principal components analysis of an evaluation of the hemiplegic subject based on the Bobath approach.

    Science.gov (United States)

    Corriveau, H; Arsenault, A B; Dutil, E; Lepage, Y

    1992-01-01

    An evaluation based on the Bobath approach to treatment has previously been developed and partially validated. The purpose of the present study was to verify the content validity of this evaluation with the use of a statistical approach known as principal components analysis. Thirty-eight hemiplegic subjects participated in the study. Analysis of the scores on each of six parameters (sensorium, active movements, muscle tone, reflex activity, postural reactions, and pain) was evaluated on three occasions across a 2-month period. Each time this produced three factors that contained 70% of the variation in the data set. The first component mainly reflected variations in mobility, the second mainly variations in muscle tone, and the third mainly variations in sensorium and pain. The results of such exploratory analysis highlight the fact that some of the parameters are not only important but also interrelated. These results seem to partially support the conceptual framework substantiating the Bobath approach to treatment.

  5. 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.

  6. 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.

  7. 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.

  8. 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

  9. X-linked familial exudative vitreoretinopathy caused by an arginine to leucine substitution in exon 3 of the Norrie gene

    Energy Technology Data Exchange (ETDEWEB)

    Johnson, K.; Perry, Y.M.; Ferrell, R.E. [Univ. of Pittsburg, PA (United States)] [and others

    1994-09-01

    Familial exudative vitreoretinopathy (FEVR) is a disorder characterized by abnormal vascularization of the peripheral retina affecting both the retina and the vitreous body. This is a bilateral disorder and leads to a clinical phenotype resembling retinopathy of prematurity, but affected individuals experience a normal gestational period, and they do not have a history of oxygen therapy. Manifestations of the disorder may include retinal folds, retinal traction, sub- or intraretinal exudates, and in severe cases enophthalmos or phthisis ultimately leading to blindness. Autosomal dominant and X-linked patterns of segregation have been reported. We studied a large three-generation family in which FEVR segregated as an X-linked recessive trait. The Norrie gene was examined because of a prior report of mutation in this gene in a small X-linked FEVR family. Exons 1-3 of the Norrie gene were amplified and screened for mutations by single stranded conformational analysis. A variant conformer of exon 3 was observed in an affected male and in combination with the normal conformer in an obligate carrier female. Sequence analysis revealed a G{r_arrow}T transversion destroying an MspI restriction site. The mutation was present in all affected males, and all obligate carrier females were heterozygous for the mutation. The mutation was not present in unaffected males or in 108 randomly selected normal females. The G{r_arrow}T mutation leads to the substitution of a hydrophobic leucine residue for the positively charged arginine normally present at position 121 of the Norrie gene product. This study confirms that mutation in the Norrie gene can lead to the FEVR phenotype and the existence of allelic heterogeneity.

  10. Q289p Mutation In Fgfr2 Gene Causes Saethre-chotzen Syndrome: Some Considerations About Familial Heterogeneity.

    OpenAIRE

    2015-01-01

    Objective: To describe the first report on a three-generation family presenting typical features of Saethre-Chotzen syndrome, in which the Q289P mutation in the FGFR2 gene was detected. Design: Dysmorphological evaluation was performed by a clinical geneticist. Direct sequencing of the polymerase chain reaction-amplified coding region of TWIST and screening for the P250R mutation in the FGFR3 gene were performed. Exons IIIa and IIIc of FGFR2 were sequenced also. The mutation was confirmed by ...

  11. 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.

  12. 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.

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

    OpenAIRE

    Marise Bueno Zonta; Amâncio Ramalho-Júnior; Marilene Puppi; Isac Bruck,; Neiva Magdalena; Muzzolon, Sandra Regina B.; Arnolfo Carvalho-Neto; Lúcia H Coutinho dos Santos

    2014-01-01

    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)....

  14. 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.

  15. 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...

  16. 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.

  17. 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.

  18. 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.

  19. Clinical application of peroneal nerve stimulator system using percutaneous intramuscular electrodes for correction of foot drop in hemiplegic patients.

    Science.gov (United States)

    Shimada, Yoichi; Matsunaga, Toshiki; Misawa, Akiko; Ando, Shigeru; Itoi, Eiji; Konishi, Natsuo

    2006-10-01

    Objective.  To assess the orthotic effect of a functional electrical stimulation device (Akita Heel Sensor System; AHSS) in the treatment of hemiplegic gait with foot drop. Materials and Methods.  In the AHSS, a heel sensor is attached to a small plastic heel brace, and the peroneal nerve is stimulated via percutaneous intramuscular electrodes. During the swing phase of the hemiplegic gait, the common peroneal nerve is stimulated by the AHSS. Eight patients in chronic stages of hemiplegia participated in this study. Walking speeds and step cadences on a 10-m course were compared between walking with stimulation and walking without stimulation. Results.  Mean walking speed (± SD) was 0.50 ± 0.26 m/sec without stimulation and 0.64 ± 0.31 m/sec with stimulation. The mean percentage increase in walking speed with stimulation was 30.1%. Mean step cadence was 31 ± 7 steps/10 m without stimulation and 27 ± 7 steps/10 m with stimulation. By correcting foot drop, the AHSS significantly increased walking speed and decreased cadence (p AHSS can significantly improve walking in hemiplegic patients with foot drop.

  20. 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.

  1. 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.

  2. 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.

  3. 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.

  4. Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.

    Science.gov (United States)

    Takamura, N; Hombrados, I; Tanigawa, K; Namba, H; Nagayama, Y; de Verneuil, H; Yamashita, S

    1997-06-13

    The molecular basis of the uroporphyrinogen III synthase (UROIIIS) deficiency was investigated in a member of a Japanese family. This defect in heme biosynthesis is responsible for a rare autosomal recessive disease: congenital erythropoietic porphyria (CEP) or Günther's disease. The patient was homozygous for a novel missense mutation: a G to T transition of nucleotide 7 that predicted a valine to phenylalanine substitution at residue 3 (V3F). The parents were heterozygous for the same mutation. The loss of UROIIIS activity was verified by an in vitro assay system. The corresponding mutated protein was expressed in Escherichia coli and no residual activity was observed. Further studies are needed to determine whether the mutations of the UROIIIS gene (UROS) have a specific profile in Japan compared to European or American countries.

  5. A Very Rare Cause of Pleuritic Chest Pain: Bilateral Pleuritis as a First Sign of Familial Mediterranean Fever

    Directory of Open Access Journals (Sweden)

    Sevket Ozkaya

    2013-01-01

    Full Text Available The familial Mediterranean fever (FMF, also called recurrent polyserositis, is characterized by reccurrent episodes of serositis at pleura, peritoneum, and synovial membrane and fever. We present a patient with recurrent bilateral pleural effusion due to serositis attacks as a first sign of FMF. A 59-year-old Turkish man suffered from recurrent pleuritic chest pain due to pleural effusion and atelectasis. The etiology was not found, and his symptoms were spontaneously recovered during several weeks. The pleuritic chest pain was associated with abdominal pain in the last attack. The gene mutation analysis revealed the homozygosity of FMF (F479L gene mutation in both our patient and his grandchild. After the colchicine treatment, the attack has not developed. In conclusion, recurrent pleural effusion and pleuritic chest pain may be the first signs of the FMF.

  6. Tickling stimulation causes the up-regulation of the kallikrein family in the submandibular gland of the rat.

    Science.gov (United States)

    Yamamuro, Takuya; Hori, Miyo; Nakagawa, Yoshimi; Hayashi, Takashi; Sakamoto, Shigeko; Ohnishi, Junji; Takeuchi, Shino; Mihara, Yuko; Shiga, Takashi; Murakami, Kazuo; Urayama, Osamu

    2013-01-01

    We recently showed that tactile stimulation (tickling) accompanied by positive emotion altered the expression of many genes in the rat hypothalamus (Hori et al., 2009 [15]). In this study, the effect of repeated tickling on gene expressions of the rat salivary gland was examined. After 4-week stimulation, several genes of the kallikrein (Klk) family were remarkably up-regulated and the alpha-amylase (amylase) gene was down-regulated in DNA microarray analysis. In quantitative analysis using real-time PCR of the submandibular gland of the rats tickled for 2 weeks, mRNAs of Klk1, Klk2 (Klk1c2, Tonin), Klk7 (Klk1l), Klk1b3 (Nerve growth factor, gamma), Klk1c10, Klks3 (Klk1c9) and GK11 were significantly 2-5-fold increased among 18 members of the Klk gene family examined and the submandibular amylase was decreased compared with the lightly touched and untouched control rats. In immunoblot analysis the increase in Klk7 protein was observed in the whole cell lysate fraction of the submandibular gland. In immunohistochemical analysis with anti-Klk7 polyclonal antibody, the immunostain was increased in duct cells of the submandibular gland of the tickled rat when compared with the lightly touched and untouched control rats. These results suggest that tactile sensory processing in the central nervous system affects the gene expression in the peripheral tissue probably via hormonal and/or autonomic neural activities. Submandibular Klks may be biochemical markers indicating positive emotional states.

  7. A novel HSF4 gene mutation (p.R405X causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

    Directory of Open Access Journals (Sweden)

    Cheema Abdul

    2008-11-01

    Full Text Available Abstract Background Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have been mapped including a locus on chromosome 16q22 containing the disease-causing gene HSF4 (Genbank accession number NM_001040667. Here, we describe a family from Pakistan with the first nonsense mutation in HSF4 thus expanding the mutational spectrum of this heat shock transcription factor gene. Methods A large consanguineous Pakistani family with autosomal recessive cataracts was collected from Quetta. Genetic linkage analysis was performed for the common known autosomal recessive cataracts loci and linkage to a locus containing HSF4 (OMIM 602438 was found. All exons and adjacent splice sites of the heat shock transcription factor 4 gene (HSF4 were sequenced. A mutation-specific restriction enzyme digest (HphI was performed for all family members and unrelated controls. Results The disease phenotype perfectly co-segregated with markers flanking the known cataract gene HSF4, whereas other autosomal recessive loci were excluded. A maximum two-point LOD score with a Zmax = 5.6 at θ = 0 was obtained for D16S421. Direct sequencing of HSF4 revealed the nucleotide exchange c.1213C > T in this family predicting an arginine to stop codon exchange (p.R405X. Conclusion We identified the first nonsense mutation (p.R405X in exon 11 of HSF4 in a large consanguineous Pakistani family with autosomal recessive cataract.

  8. A Presenilin-1 Mutation Identified in Familial Alzheimer Disease with Cotton Wool Plaques Causes a Nearly Complete Loss of γ-Secretase Activity*

    Science.gov (United States)

    Heilig, Elizabeth A.; Xia, Weiming; Shen, Jie; Kelleher, Raymond J.

    2010-01-01

    Mutations in presenilin-1 and presenilin-2 (PS1 and PS2) are the most common cause of familial Alzheimer disease. PS1 and PS2 are the presumptive catalytic components of the multisubunit γ-secretase complex, which proteolyzes a number of type I transmembrane proteins, including the amyloid precursor protein (APP) and Notch. APP processing by γ-secretase produces β-amyloid peptides (Aβ40 and Aβ42) that accumulate in the Alzheimer disease brain. Here we identify a pathogenic L435F mutation in PS1 in two affected siblings with early-onset familial Alzheimer disease characterized by deposition of cerebral cotton wool plaques. The L435F mutation resides in a conserved C-terminal PAL sequence implicated in active site conformation and catalytic activity. The impact of PS1 mutations in and around the PAL motif on γ-secretase activity was assessed by expression of mutant PS1 in mouse embryo fibroblasts lacking endogenous PS1 and PS2. Surprisingly, the L435F mutation caused a nearly complete loss of γ-secretase activity, including >90% reductions in the generation of Aβ40, Aβ42, and the APP and Notch intracellular domains. Two nonpathogenic PS1 mutations, P433L and L435R, caused essentially complete loss of γ-secretase activity, whereas two previously identified pathogenic PS1 mutations, P436Q and P436S, caused partial loss of function with substantial reductions in production of Aβ40, Aβ42, and the APP and Notch intracellular domains. These results argue against overproduction of Aβ42 as an essential property of presenilin proteins bearing pathogenic mutations. Rather, our findings provide support for the hypothesis that pathogenic mutations cause a general loss of presenilin function. PMID:20460383

  9. [Reflex responses from the sural nerve to tibialis anterior muscle in hemiplegic patients: the relation between the responses and Babinski sign].

    Science.gov (United States)

    Kagamihara, Yasuhiro; Masakado, Yoshihisa

    2005-11-01

    Stimulation of the sural nerve of healthy subjects induced short latency inhibition in the ipsilateral tibialis anterior muscle and facilitation in peroneal muscle. We examined lower limb muscle responses after stimulation of the sural nerve in 19 patients with hemiplegia caused by cerebro-vascular disease and compared them with the control responses. The sural nerve was stimulated electrically (3 or 5 square wave pulses of 0.5 ms repeated at 250 Hz) during weak tonic contraction. Stimulation was triggered to average the rectified surface electromyography (EMG) of the test muscle. Usually 100 - 200 sweeps were averaged. After stimulation, the tibialis anterior muscle on the affected side of the hemiplegic patients showed the patterns of inhibition, facilitation, and no response, whereas all responses on the unaffected side, except those of one patient, were inhibition. The peroneal muscle on both sides showed only facilitation as in the controls. Abnormal responses of the tibialis anterior muscle on the affected side were present in many patients who had the Babinski sign. Abnormal responses in the tibialis anterior muscle of the affected side may have been due to contributions by disinhibition of the flexor reflex, late-recruited motor units or both.

  10. A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family

    Science.gov (United States)

    Dursun, Fatma; Mohamoud, Hussein Sheikh Ali; Karim, Noreen; Naeem, Muhammad; Jelani, Musharraf; Kırmızıbekmez, Heves

    2016-01-01

    Perrault syndrome (PRLTS) is a heterogeneous group of clinical and genetic disorders characterized by sensory neuronal hearing loss in both sexes and premature ovarian failure or infertility in females. Neurological and hearing loss symptoms appear early in life, but female infertility cannot be detected before puberty. Spastic limbs, muscle weakness, delayed puberty and irregular menstrual cycles have also been observed in PRLTS patients. Mutations in five genes, i.e. HSD17B4, HARS2, CLPP, LARS2, and C10orf2, have been reported in five subtypes of PRLTS. Here, we report a milder phenotype of PRLTS in a Turkish family in which two affected patients had no neurological findings. However, both were characterized by sensory neuronal hearing loss and the female sibling had secondary amenorrhea and gonadal dysgenesis. Genome-wide homozygosity mapping using 300K single-nucleotide polymorphism microarray analysis together with iScan platform (Illumina, USA) followed by candidate gene Sanger sequencing with ABI 3500 Genetic Analyzer (Life Technologies, USA) were used for molecular diagnosis. We found a novel missense alteration c.624C>G; p.Ile208Met in exon 5 of the CLPP at chromosome 19p13.3. This study expands the mutation spectrum of CLPP pathogenicity in PRLTS type 3 phenotype. PMID:27087618

  11. Familial Congenital Hypothyroidism Caused by Abnormal and Bioinactive TSH due to Mutations in the beta-Subunit Gene.

    Science.gov (United States)

    Medeiros-Neto, G; de Lacerda, L; Wondisford, F E

    1997-01-01

    Hereditary TSH deficiency is a rare autosomal recessive disease described in inbred Japanese families and in Greek and Brazilian kindreds. The TSH-beta-subunit gene has been shown to be the site of mutations that will give rise to truncated proteins that cannot dimerize with the alpha subunit or, alternatively, will produce a mutated TSH that is present in the circulation of the affected patients, but it is biologically inactive. Characteristically, the patients with TSH-beta-subunit-defects are born with congenital hypothyroidism, with very low levels of serum thyroid hormones and serum thyroglobulin and, paradoxically, with serum TSH levels that are consistently undetectable or at very low levels. Goiter is not present at birth, but the low radioactive thyroid uptake will increase after bovine TSH stimulation. Other pituitary hormones responses to provocative tests are normal. The subunit levels are at high concentration and are significantly increased following TRH stimulation. In two kindreds, molecular biological studies have indicated mutations in two different sites of exon 2, generating a peptide that would not dimerize with subunits to synthesize TSH molecules. In one kindred, a truncated TSH-beta protein was translated that generated a biologically inactive but detectable serum TSH molecule. (c) 1997, Elsevier Science Inc. (Trends Endocrinol Metab 1997;8:15-20).

  12. Members of the family caliciviridae (Norwalk virus and Sapporo virus) are the most prevalent cause of gastroenteritis outbreaks among infants in Japan.

    Science.gov (United States)

    Nakata, S; Honma, S; Numata, K K; Kogawa, K; Ukae, S; Morita, Y; Adachi, N; Chiba, S

    2000-06-01

    Norwalk virus (NV) and Sapporo virus (SV) were approved as type species of the genus Norwalk-like viruses and the genus Sapporo-like viruses, respectively, within the family Caliciviridae. To clarify the importance of NV and SV as causes of gastroenteritis outbreaks in infants, stool samples obtained from 36 outbreaks of nonbacterial gastroenteritis that occurred during 1976-1995 in an infant home in Sapporo, Japan, were examined for diarrhea viruses using electron microscopy, enzyme immunoassays, reverse transcriptase-polymerase chain reaction (PCR), and sequencing of the PCR products. NV and SV were associated with 15 (42%) of the 36 outbreaks and were more prevalent than rotavirus (RV) A, which was associated with 10 (28%) of the 36 outbreaks. Our data indicate that NV and SV were the most common cause of outbreaks of viral gastroenteritis in infants and were indeed more prevalent than RV-A in Sapporo, Japan, during 1976-1995.

  13. TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome

    Science.gov (United States)

    Boileau, Catherine; Guo, Dong-Chuan; Hanna, Nadine; Regalado, Ellen S.; Detaint, Delphine; Gong, Limin; Varret, Mathilde; Prakash, Siddharth; Li, Alexander H.; d’Indy, Hyacintha; Braverman, Alan C.; Grandchamp, Bernard; Kwartler, Callie S.; Gouya, Laurent; Santos-Cortez, Regie Lyn P.; Abifadel, Marianne; Leal, Suzanne M.; Muti, Christine; Shendure, Jay; Gross, Marie-Sylvie; Rieder, Mark J.; Vahanian, Alec; Nickerson, Deborah A.; Michel, Jean Baptiste; Jondeau, Guillaume; Milewicz, Dianna M.

    2014-01-01

    A predisposition for thoracic aortic aneurysms leading to acute aortic dissections can be inherited in families in an autosomal dominant manner. Genome-wide linkage analysis of two large unrelated families with thoracic aortic disease, followed by whole exome sequencing of affected relatives, identified causative mutations in TGFB2. These mutations, a frameshift mutation in exon 6 and a nonsense mutation in exon 4, segregated with disease with a combined LOD score of 7.7. Sanger sequencing of 276 probands from families with inherited thoracic aortic disease identified two additional TGFB2 mutations. TGFB2 encodes the transforming growth factor beta-2 (TGF-β2) and the mutations are predicted to cause haploinsufficiency for TGFB2, but aortic tissue from cases paradoxically shows increased TGF-β2 expression and immunostaining. Thus, haploinsufficiency of TGFB2 predisposes to thoracic aortic disease, suggesting the initial pathway driving disease is decreased cellular TGF-β2 levels leading to a secondary increase in TGF-β2 production in the diseased aorta. PMID:22772371

  14. 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

    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 ...... homozygous inactivation of APC allowing for alternative genetic models as basis for adenoma formation.Oncogene advance online publication, 6 June 2011; doi:10.1038/onc.2011.201....... 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...... 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...

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

    Energy Technology Data Exchange (ETDEWEB)

    Xiao Cuiying; Zhang Sizhong; Wang Jun; Qiu Weimin; Chi Leiting; Li Yunqing; Su Zhiguang

    2003-04-09

    Spondyloepiphyseal Dysplasia Tarda (SEDT; MIM 313400) is a rare genetically heterogeneous disorder of vertebral and epiphyseal growth resulting in disproportionally short-trunked short stature, barrel-shaped chest, and dysplasia of the large joints. It is caused by the mutations of SEDL gene. The distinctive radiological signs and the X-linked mode of inheritance make it easy to diagnose. Here a four-generation Chinese SEDT family has been analyzed and the disease-causing mutation has been found. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA 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 of the gene could be predicted. However, this mutation has not been detected in 50 age and sex matched unrelated controls.

  16. A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.

    Science.gov (United States)

    Knijnenburg, Jeroen; van Bever, Yolande; Hulsman, Lorette O M; van Kempen, Chantal A P; Bolman, Galhana M; van Loon, Rosa Laura E; Beverloo, H Berna; van Zutven, Laura J C M

    2012-09-01

    Cat eye syndrome (CES) is caused by a gain of the proximal part of chromosome 22. Usually, a supernumerary marker chromosome is present, containing two extra copies of the chromosome 22q11.1q11.21 region. More sporadically, the gain is present intrachromosomally. The critical region for CES is currently estimated to be about 2.1 Mb and to contain at least 14 RefSeq genes. Gain of this region may cause ocular coloboma, preauricular, anorectal, urogenital and congenital heart malformations. We describe a family in which a 600 kb intrachromosomal triplication is present in at least three generations. The copy number alteration was detected using MLPA and further characterized with interphase and metaphase FISH and SNP-array. The amplified fragment is located in the distal part of the CES region. The family members show anal atresia and preauricular tags or pits, matching part of the phenotype of this syndrome. This finding suggests that amplification of the genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for CES, may be responsible for anorectal, renal and preauricular anomalies in patients with CES.

  17. 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.

  18. Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

    Science.gov (United States)

    Coppieters, Frauke; Roels, Dimitri; De Jaegere, Sarah; Flipts, Helena; De Zaeytijd, Julie; Walraedt, Sophie; Claes, Charlotte; Fransen, Erik; Van Camp, Guy; Depasse, Fanny; Casteels, Ingele; de Ravel, Thomy

    2017-01-01

    Purpose Autosomal dominant retinitis pigmentosa (adRP) is characterized by an extensive genetic heterogeneity, implicating 27 genes, which account for 50 to 70% of cases. Here 86 Belgian probands with possible adRP underwent genetic testing to unravel the molecular basis and to assess the contribution of the genes underlying their condition. Methods Mutation detection methods evolved over the past ten years, including mutation specific methods (APEX chip analysis), linkage analysis, gene panel analysis (Sanger sequencing, targeted next-generation sequencing or whole exome sequencing), high-resolution copy number screening (customized microarray-based comparative genomic hybridization). Identified variants were classified following American College of Medical Genetics and Genomics (ACMG) recommendations. Results Molecular genetic screening revealed mutations in 48/86 cases (56%). In total, 17 novel pathogenic mutations were identified: four missense mutations in RHO, five frameshift mutations in RP1, six mutations in genes encoding spliceosome components (SNRNP200, PRPF8, and PRPF31), one frameshift mutation in PRPH2, and one frameshift mutation in TOPORS. The proportion of RHO mutations in our cohort (14%) is higher than reported in a French adRP population (10.3%), but lower than reported elsewhere (16.5–30%). The prevalence of RP1 mutations (10.5%) is comparable to other populations (3.5%-10%). The mutation frequency in genes encoding splicing factors is unexpectedly high (altogether 19.8%), with PRPF31 the second most prevalent mutated gene (10.5%). PRPH2 mutations were found in 4.7% of the Belgian cohort. Two families (2.3%) have the recurrent NR2E3 mutation p.(Gly56Arg). The prevalence of the recurrent PROM1 mutation p.(Arg373Cys) was higher than anticipated (3.5%). Conclusions Overall, we identified mutations in 48 of 86 Belgian adRP cases (56%), with the highest prevalence in RHO (14%), RP1 (10.5%) and PRPF31 (10.5%). Finally, we expanded the molecular

  19. [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

  20. 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.

  1. 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

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

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    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.

  3. 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...

  4. 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.

  5. An evaluation of the hemiplegic subject based on the Bobath approach. Part III. A validation study.

    Science.gov (United States)

    Arsenault, A B; Dutil, E; Lambert, J; Corriveau, H; Guarna, F; Drouin, G

    1988-01-01

    Sixty-two hemiplegic subjects were treated with the Bobath approach for a period of three months. During this time they were evaluated on three occasions. The testing battery consisted of a Bobath evaluation, the Brunnstrom scale, the Fugl-Meyer test, the Upper Extremity Functional Test (UEFT) and the Present Pain Intensity (PPI) of the McGill pain questionnaire. A Friedman analysis of variance showed that, except for pain, all the protocols used disclosed significant progress (p less than 0.001) over time in terms of motor recovery. Except for pain, the results of the Bobath evaluation were significantly correlated (Spearman's Rho, p less than 0.001) with the results of the other testing procedures. It is concluded that the new Bobath evaluation proposed in a previous paper is as sensitive in depicting progress in motor recovery over time as are the other testing procedures used. Furthermore, this new evaluation seems to be measuring similar properties to the other tests. However, pain (PPI) appears not to be an important dependent variable.

  6. Effects of early spasticity treatment on children with hemiplegic cerebral palsy: a preliminary study

    Directory of Open Access Journals (Sweden)

    Marise Bueno Zonta

    2013-07-01

    Full Text Available Objective To compare motor and functional performance of two groups of children with hemiplegic cerebral palsy (HCP. Only the study group (SG received early treatment of spasticity with botulinum neurotoxin type A (BXT-A. Methods Gross Motor Function Measure (GMFM, functional performance (Pediatric Evaluation of Disability Inventory - PEDI, range of movement, gait pattern (Physician Rating Scale - PRS and the speed of hand movements were considered. Results The SG, composed of 11 HCP (45.64±6.3 months, was assessed in relation to the comparison group, composed of 13 HCP (45.92±6.4 months. SG showed higher scores in four of the five GMFM dimensions, which included scores that were statistically significant for dimension B, and higher scores in five of the six areas evaluated in the PEDI. Active wrist extension, the speed of hand movements and PRS score were higher in the SG. Conclusion Children who received early BXT-A treatment for spasticity showed higher scores in motor and functional performance.

  7. Kinematic head and trunk strategies used by hemiplegic stroke patients crossing over obstacles of different heights

    Science.gov (United States)

    Han, Jin-Tae; Lee, Jung-Hoon; Fell, Dennis W.

    2017-01-01

    [Purpose] The purpose of this study was to compare kinematic data regarding the head, trunk, and pelvis strategies used by individuals with hemiplegia when crossing over obstacles of different heights. [Subjects and Methods] Nine adults with hemiplegia from stroke (7 males and 2 females) participated in this study. A motion analysis system with six infrared cameras was used to measure the kinematic data of the head, trunk, and pelvis while the subjects crossed over obstacles of different heights. Repeated measures ANOVA analysis was performed to compare the resulting kinematic data. [Results] An increase in the magnitude of the kinematic data of the head, trunk, and pelvis of the hemiparetic stroke patients was observed when the height of the obstacles, which they crossed over, increased. [Conclusion] This study described the kinematic strategies, with regard to the head, trunk, and pelvis, used by hemiplegic patients crossing over obstacles of different heights. The results indicate that these kinematic strategies primarily change when the obstacle height was 20% of the height of the subjects. PMID:28210053

  8. Recovery of atrophic leg muscles in the hemiplegics due to cerebrovascular accidents. Computed tomographic study

    Energy Technology Data Exchange (ETDEWEB)

    Odajima, Natsu; Ishiai, Sumio; Okiyama, Ryouichi; Furukawa, Tetsuo; Tsukagoshi, Hiroshi.

    1988-02-01

    Thirty-five patients with hemiplegia due to cerebrovascular accidents were studied with regared to the muscle wastings before and after rehabilitation training. Hemiplegics were composed of 12 improved and 23 non-improved patients. The CT scan was carried out at the midportion of the thigh and largest-diameter section of the calf. Muscle size of each cross-sectional area was measured on CT image and the increase of size (..delta..S) in each muscle after training was calculated. The ..delta..S of quadriceps femoris was correlated with that of whole cross-section of the thigh. The gracilis in non-affected side was not correlated with that of whole muscles. In both legs, there was an increase in leg muscle size after training. These changes were nost marked in the non-affected side of the improved patients. After training the difference between the two limbs remained unchanged. Recovery of muscle wasting in both legs was seen first in the quadriceps in thigh and flexors in calf. Gracilis was relatively unchanged in comparison with other muscles. Remarkable increase of muscle size in non-affected side was worthwhile to note.

  9. 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.

  10. 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.

  11. Effect of prolotherapy on hemiplegic shoulder pain due to rotator cuff tendinopathy: a pilot study

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    Serdar Kesikburun

    2017-03-01

    Full Text Available Purpose: The aim of this study was to investigate the effect of prolotherapy on pain and shoulder range of motion in stroke patients with hemiplegic shoulder pain due to rotator cuff tendinopathy. Material and Methods: The data of 10 patients (mean age, 64.2+/-11.6 years who had a history stroke of more than six months and underwent prolotherapy treatment were collected retrospectively. The treatment included 3 sessions of dextrose pr olotherapy injections applied to rotator cuff tendon. Visual analogue scale pain scores and shoulder range of motions measured at baseline and two weeks later after end of the treatment were assessed. Results: Visual analogue scale shoulder pain scores of the patients decreased from 8.2+/-1.1 at baseline to 4.8+/-1.9 after prolotherapy The degrees of shoulder flexion and abduction increased significantly after the treatment. Conclusion: Preliminary results in this pilot study suggested the beneficial effect of proloterapi in the treatmentof hemiplegicshoulderpain. [Cukurova Med J 2017; 42(1.000: 13-18

  12. 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.

  13. 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.

  14. 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.

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

    Science.gov (United States)

    Al-Haggar, Mohammad; Sakamoto, Osamu; Shaltout, Ali; El-Hawary, Amany; Wahba, Yahya; Abdel-Hadi, Dina

    2011-01-01

    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.

  16. c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family

    Science.gov (United States)

    Dantas, Vitor G.L.; Lezirovitz, Karina; Yamamoto, Guilherme L.; Moura de Souza, Carolina Fischinger; Ferreira, Simone Gomes; Mingroni-Netto, Regina C.

    2014-01-01

    We studied a family presenting 10 individuals affected by autosomal dominant deafness in all frequencies and three individuals affected by high frequency hearing loss. Genomic scanning using the 50k Affymetrix microarray technology yielded a Lod Score of 2.1 in chromosome 14 and a Lod Score of 1.9 in chromosome 22. Mapping refinement using microsatellites placed the chromosome 14 candidate region between markers D14S288 and D14S276 (8.85 cM) and the chromosome 22 near marker D22S283. Exome sequencing identified two candidate variants to explain hearing loss in chromosome 14 [PTGDR – c.G894A:p.R298R and PTGER2 – c.T247G:p.C83G], and one in chromosome 22 [MYH9, c.G2114A:p.R705H]. Pedigree segregation analysis allowed exclusion of the PTGDR and PTGER2 variants as the cause of deafness. However, the MYH9 variant segregated with the phenotype in all affected members, except the three individuals with different phenotype. This gene has been previously described as mutated in autosomal dominant hereditary hearing loss and corresponds to DFNA17. The mutation identified in our study is the same described in the prior report. Thus, although linkage studies suggested a candidate gene in chromosome 14, we concluded that the mutation in chromosome 22 better explains the hearing loss phenotype in the Brazilian family. PMID:25505834

  17. Recombinant vacuolar iron transporter family homologue PfVIT from human malaria-causing Plasmodium falciparum is a Fe2+/H+exchanger

    Science.gov (United States)

    Labarbuta, Paola; Duckett, Katie; Botting, Catherine H.; Chahrour, Osama; Malone, John; Dalton, John P.; Law, Christopher J.

    2017-01-01

    Vacuolar iron transporters (VITs) are a poorly understood family of integral membrane proteins that can function in iron homeostasis via sequestration of labile Fe2+ into vacuolar compartments. Here we report on the heterologous overexpression and purification of PfVIT, a vacuolar iron transporter homologue from the human malaria-causing parasite Plasmodium falciparum. Use of synthetic, codon-optimised DNA enabled overexpression of functional PfVIT in the inner membrane of Escherichia coli which, in turn, conferred iron tolerance to the bacterial cells. Cells that expressed PfVIT had decreased levels of total cellular iron compared with cells that did not express the protein. Qualitative transport assays performed on inverted vesicles enriched with PfVIT revealed that the transporter catalysed Fe2+/H+ exchange driven by the proton electrochemical gradient. Furthermore, the PfVIT transport function in this system did not require the presence of any Plasmodium-specific factor such as post-translational phosphorylation. PfVIT purified as a monomer and, as measured by intrinsic protein fluorescence quenching, bound Fe2+ in detergent solution with low micromolar affinity. This study of PfVIT provides material for future detailed biochemical, biophysical and structural studies to advance understanding of the vacuolar iron transporter family of membrane proteins from important human pathogens. PMID:28198449

  18. 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.

  19. Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.

    Science.gov (United States)

    Al-Owain, M; Wakil, S; Shareef, F; Al-Fatani, A; Hamadah, E; Haider, M; Al-Hindi, H; Awaji, A; Khalifa, O; Baz, B; Ramadhan, R; Meyer, B

    2011-07-01

    Desmoplakin is an important cytoskeletal linker for the function of the desmosomes. Linking desmoplakin to certain types of cardiocutaneous syndromes has been a hot topic recently. Skin fragility-woolly hair syndrome is a rare autosomal recessive disorder involving the desmosomes and is caused by mutation in the desmoplakin gene (DSP). We report five members from a large family with skin fragility-woolly hair syndrome. The index is a 14-year-old girl with palmoplantar keratoderma, woolly hair, variable alopecia, dystrophic nails, and excessive blistering to trivial mechanical trauma. No cardiac symptoms were reported. Although formal cardiac examination was not feasible, the echocardiographic evaluation of the other two affected younger siblings was normal. Homozygosity mapping and linkage analysis revealed a high LOD score region in the short arm of chromosome 6 that harbors the DSP. Full sequencing of the DSP showed a novel homozygous c.7097 G>A (p.R2366H) mutation in all affected members, and the parents were heterozygous. This is the report of the third case/family of the skin fragility-woolly hair syndrome in the literature. We also present a clinical and molecular review of various desmoplakin-related phenotypes, with emphasis on onset of cardiomyopathy. The complexity of the desmoplakin and its variable presentations warrant introducing the term 'desmoplakinopathies' to describe all the phenotypes related to defects in the desmoplakin.

  20. Effects of 3-Dimensional Lumbar Stabilization Training for Balance in Chronic Hemiplegic Stroke Patients: A Randomized Controlled Trial

    Science.gov (United States)

    2016-01-01

    Objective To investigate the effects of the newly developed Spine Balance 3D system on the balance and gait abilities of hemiplegic stroke patients. Methods Twenty-eight hemiplegic patients with chronic stroke were randomly assigned to an experimental (n=14) or control group (n=14). The experimental and control groups performed balance training by using the newly developed Spine Balance 3D system and the well-known Biodex Balance System 30 minutes per day, three times a week for 7 weeks. The Berg Balance Scale (BBS), 10-m walking test (10mWT), Timed Up and Go Test (TUG), Functional Reach Test (FRT), the Korean version of the Fall Efficacy Scale-International (KFES-I), trunk muscle strength and stability were evaluated before and after 7 weeks of intervention. Results The 10mWT improved significantly (p=0.001) in the experimental group (using the Spine Balance 3D system) but not in the control group, and core muscle strength, which we checked using Spine Balance 3D system evaluation program, improved more in the experimental group as well. The results of the BBS, FRT, TUG, KFES-I, and Biodex Balance System evaluation program improved in both groups after 7 weeks of balance training. Conclusion We suggest that the newly-developed Spine Balance 3D system can be a more useful therapeutic tool for gait and dynamic balance rehabilitation in hemiplegic patients than a conventional 2D-based balance training system. A large-scale randomized controlled study is needed to prove the effect of this system. PMID:28119826

  1. 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.

  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. 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.

  4. 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.

  5. Past recreational physical activity, body size, and all-cause mortality following breast cancer diagnosis: results from the Breast Cancer Family Registry.

    Science.gov (United States)

    Keegan, Theresa H M; Milne, Roger L; Andrulis, Irene L; Chang, Ellen T; Sangaramoorthy, Meera; Phillips, Kelly-Anne; Giles, Graham G; Goodwin, Pamela J; Apicella, Carmel; Hopper, John L; Whittemore, Alice S; John, Esther M

    2010-09-01

    Few studies have considered the joint association of body mass index (BMI) and physical activity, two modifiable factors, with all-cause mortality after breast cancer diagnosis. Women diagnosed with invasive breast cancer (n = 4,153) between 1991 and 2000 were enrolled in the Breast Cancer Family Registry through population-based sampling in Northern California, USA; Ontario, Canada; and Melbourne and Sydney, Australia. During a median follow-up of 7.8 years, 725 deaths occurred. Baseline questionnaires assessed moderate and vigorous recreational physical activity and BMI prior to diagnosis. Associations with all-cause mortality were assessed using Cox proportional hazards regression, adjusting for established prognostic factors. Compared with no physical activity, any recreational activity during the 3 years prior to diagnosis was associated with a 34% lower risk of death [hazard ratio (HR) = 0.66, 95% confidence interval (CI): 0.51-0.85] for women with estrogen receptor (ER)-positive tumors, but not those with ER-negative tumors; this association did not appear to differ by race/ethnicity or BMI. Lifetime physical activity was not associated with all-cause mortality. BMI was positively associated with all-cause mortality for women diagnosed at age > or =50 years with ER-positive tumors (compared with normal-weight women, HR for overweight = 1.39, 95% CI: 0.90-2.15; HR for obese = 1.77, 95% CI: 1.11-2.82). BMI associations did not appear to differ by race/ethnicity. Our findings suggest that physical activity and BMI exert independent effects on overall mortality after breast cancer.

  6. Shoulder uptake in the bone scintigraphy in patients with hemiplegic reflex sympathetic dystrophy syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jong Jin; Chung, June Key; Lee, Dong Soo; Hong, Joon Beom; Han, Tai Ryoon; Lee, Myung Chul [College of Medicine, Seoul National Univ., Seoul (Korea, Republic of)

    2004-08-01

    Increased uptake of wrist and hand joints in three phase bone scintigraphy (TPBS) have been used in the detection of reflex sympathetic dystrophy syndrome (RSDS). TPBS frequently shows increased shoulder uptake in the hemiplegic RSDS patients. We investigated the significance of the shoulder uptake in the detection of these patients. Twenty three patients who had hemiplegia due to brain stroke and diagnosed as RSD were enrolled in this study (M:F=16:7, R:L=11:12). The mean age was 63{+-}10 yrs. Ten normal volunteer (mean age: 60{+-}5, M:F=1:9) data was used as control group. TPBS was performed 59{+-}32 days after stoke (acute stage). We obtained the count ratios of bilateral hands by drawing a region of interest (ROI) in three phase images and compared to the count ratios of shoulders in the delayed image. Hand ROI included an ipsilateral wrist. Sensitivity of detecting the affected limb was defined using the right/left count ratio of normal control. Sensitivities using count ratios of hand blood flow, blood pool and delayed image were 45%, 76% and 78%, respectively. Sensitivity of shoulder count ratio was 74%. Log of right/left counts of hand delayed image and that of shoulder delayed image were correlated well with statistical significance (Spearman's R=0.824, p<0.001). Shoulder uptake showed good correlation with hand uptake in the delayed image of TPBS. Shoulder uptake maybe helpful in the diagnosis of reflex sympathetic dystrophy syndrome in patients with hemiplegia.

  7. Non-linear analysis of body responses to functional electrical stimulation on hemiplegic subjects.

    Science.gov (United States)

    Yu, W W; Acharya, U R; Lim, T C; Low, H W

    2009-08-01

    Functional electrical stimulation (FES) is a method of applying low-level electrical currents to restore or improve body functions lost through nervous system impairment. FES is applied to peripheral nerves that control specific muscles or muscle groups. Application of advanced signal computing techniques to the medical field has helped to achieve practical solutions to the health care problems accurately. The physiological signals are essentially non-stationary and may contain indicators of current disease, or even warnings about impending diseases. These indicators may be present at all times or may occur at random on the timescale. However, to study and pinpoint these subtle changes in the voluminous data collected over several hours is tedious. These signals, e.g. walking-related accelerometer signals, are not simply linear and involve non-linear contributions. Hence, non-linear signal-processing methods may be useful to extract the hidden complexities of the signal and to aid physicians in their diagnosis. In this work, a young female subject with major neuromuscular dysfunction of the left lower limb, which resulted in an asymmetric hemiplegic gait, participated in a series of FES-assisted walking experiments. Two three-axis accelerometers were attached to her left and right ankles and their corresponding signals were recorded during FES-assisted walking. The accelerometer signals were studied in three directions using the Hurst exponent H, the fractal dimension (FD), the phase space plot, and recurrence plots (RPs). The results showed that the H and FD values increase with increasing FES, indicating more synchronized variability due to FES for the left leg (paralysed leg). However, the variation in the normal right leg is more chaotic on FES.

  8. ROMK expression remains unaltered in a mouse model of familial hyperkalemic hypertension caused by the CUL3Δ403-459 mutation.

    Science.gov (United States)

    Murthy, Meena; Kurz, Thimo; O'Shaughnessy, Kevin M

    2016-07-01

    Familial hyperkalemic hypertension (FHHt) is a rare inherited form of salt-dependent hypertension caused by mutations in proteins that regulate the renal Na(+)-Cl(-) cotransporter NCC Mutations in four genes have been reported to cause FHHt including CUL3 (Cullin3) that encodes a component of a RING E3 ligase. Cullin-3 binds to WNK kinase-bound KLHL3 (the substrate recognition subunit of the ubiquitin ligase complex) to promote ubiquitination and proteasomal degradation of WNK kinases. Deletion of exon 9 from CUL3 (affecting residues 403-459, CUL3(Δ403-459)) causes a severe form of FHHt (PHA2E) that is recapitulated closely in a knock-in mouse model. The loss of functionality of CUL3(Δ403-459) and secondary accumulation of WNK kinases causes substantial NCC activation. This accounts for the hypertension in FHHt but the origin of the hyperkalemia is less clear. Hence, we explored the impact of CUL3(Δ403-459) on expression of the distal secretory K channel, ROMK, both in vitro and in vivo. We found that expressing wild-type but not the CUL3(Δ403-459) mutant form of CUL3 prevented the suppression of ROMK currents by WNK4 expressed in Xenopus oocytes. The mutant CUL3 protein was also unable to affect ROMK-EGFP protein expression at the surface of mouse M-1 cortical collecting duct (CCD) cells. The effects of CUL3 on ROMK expression in both oocytes and M-1 CCD cells was reduced by addition of the neddylation inhibitor, MLN4924. This confirms that neddylation is important for CUL3 activity. Nevertheless, in our knock-in mouse model expressing CUL3(Δ403-459) we could not show any alteration in ROMK expression by either western blotting whole kidney lysates or confocal microscopy of kidney sections. This suggests that the hyperkalemia in our knock-in mouse and human PHA2E subjects with the CUL3(Δ403-459) mutation is not caused by reduced ROMK expression in the distal nephron.

  9. 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

  10. 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.

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. A missense mutation in the alpha-actinin 1 gene (ACTN1 is the cause of autosomal dominant macrothrombocytopenia in a large French family.

    Directory of Open Access Journals (Sweden)

    Paul Guéguen

    Full Text Available Inherited thrombocytopenia is a heterogeneous group of disorders characterized by a reduced number of blood platelets. Despite the identification of nearly 20 causative genes in the past decade, approximately half of all subjects with inherited thrombocytopenia still remain unexplained in terms of the underlying pathogenic mechanisms. Here we report a six-generation French pedigree with an autosomal dominant mode of inheritance and the identification of its genetic basis. Of the 55 subjects available for analysis, 26 were diagnosed with isolated macrothrombocytopenia. Genome-wide linkage analysis mapped a 10.9 Mb locus to chromosome 14 (14q22 with a LOD score of 7.6. Candidate gene analysis complemented by targeted next-generation sequencing identified a missense mutation (c.137GA; p.Arg46Gln in the alpha-actinin 1 gene (ACTN1 that segregated with macrothrombocytopenia in this large pedigree. The missense mutation occurred within actin-binding domain of alpha-actinin 1, a functionally critical domain that crosslinks actin filaments into bundles. The evaluation of cultured mutation-harboring megakaryocytes by electron microscopy and the immunofluorescence examination of transfected COS-7 cells suggested that the mutation causes disorganization of the cellular cytoplasm. Our study concurred with a recently published whole-exome sequence analysis of six small Japanese families with congenital macrothrombocytopenia, adding ACTN1 to the growing list of thrombocytopenia genes.

  19. 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 .

  20. 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

  1. 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.

  2. 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.

  3. 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...

  4. 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...

  5. Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection with Intracranial and Other Arterial Aneurysms

    Science.gov (United States)

    Regalado, Ellen S.; Guo, Dong-chuan; Villamizar, Carlos; Avidan, Nili; Gilchrist, Dawna; McGillivray, Barbara; Clarke, Lorne; Bernier, Francois; Santos-Cortez, Regie L.; Leal, Suzanne M.; Bertoli-Avella, Aida M.; Shendure, Jay; Rieder, Mark J.; Nickerson, Deborah A; Milewicz, Dianna M.

    2014-01-01

    Rationale Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) can be inherited in families in an autosomal dominant manner. As part of the spectrum of clinical heterogeneity of familial TAAD, we recently described families with multiple members that had TAAD and intracranial aneurysms or TAAD and intracranial and abdominal aortic aneurysms inherited in an autosomal dominant manner. Objective To identify the causative mutation in a large family with autosomal dominant inheritance of TAAD with intracranial and abdominal aortic aneurysms by performing exome sequencing of two distantly related individuals with TAAD and identifying shared rare variants. Methods and Results A novel frame shift mutation, p. N218fs (c.652delA), was identified in the SMAD3 gene and segregated with the vascular diseases in this family with a LOD score of 2.52. Sequencing of 181 probands with familial TAAD identified three additional SMAD3 mutations in 4 families, p.R279K (c.836G>A), p.E239K (c.715G>A), and p.A112V (c.235C>T) resulting in a combined LOD score of 5.21. These four mutations were notably absent in 2300 control exomes. SMAD3 mutations were recently described in patients with Aneurysms Osteoarthritis Syndrome and some of the features of this syndrome were identified in individuals in our cohort, but these features were notably absent in many SMAD3 mutation carriers. Conclusions SMAD3 mutations are responsible for 2% of familial TAAD. Mutations are found in families with TAAD alone, along with families with TAAD, intracranial aneurysms, aortic and bilateral iliac aneurysms segregating in an autosomal dominant manner. PMID:21778426

  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. 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.

  8. 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.

  9. "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.

  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. 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…

  12. 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.

  13. 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

  14. A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome

    Science.gov (United States)

    Al-Haggar, Mohammad; Madej-Pilarczyk, Agnieszka; Kozlowski, Lukasz; Bujnicki, Janusz M; Yahia, Sohier; Abdel-Hadi, Dina; Shams, Amany; Ahmad, Nermin; Hamed, Sahar; Puzianowska-Kuznicka, Monika

    2012-01-01

    Mandibuloacral dysplasia (MAD) is a rare disease resulting from a mutation of LMNA gene encoding lamins A and C. The most common mutation associated with this disease is a homozygous arginine 527 replacement by histidine. Three female patients originating from two unrelated families from Northeast Egypt were examined. Their growth was retarded; they had microcephaly, widened cranial sutures, prominent eyes and cheeks, micrognathia, dental crowding, hypoplastic mandible, acro-osteolysis of distal phalanges, and joint contractures. In addition, they presented some progeroid features, such as pinched nose, premature loss of teeth, loss of hair, scleroderma-like skin atrophy, spine rigidity, and waddling gait. The clinical presentation of the disease varied between the patient originating from Family 1 and patients from Family 2, suggesting that unknown, possibly epigenetic factors, modify the course of the disease. The first symptoms of the disease appeared at the age of 2.5 (a girl from Family 1), 5, and 3 years (girls from Family 2). All patients had the same, novel homozygous c.1580G>T LMNA mutation, resulting in the replacement of arginine 527 by leucine. Computational predictions of such substitution effects suggested that it might alter protein stability and increase the tendency for protein aggregation, and as a result, might influence its interaction with other proteins. In addition, restriction fragment-length polymorphism analysis performed in 178 unrelated individuals showed that up to 1.12% of inhabitants of Northeast Egypt might be heterozygous carriers of this mutation, suggesting the presence of a founder effect in this area. PMID:22549407

  15. Early onset Paget's disease of bone caused by a novel mutation (78dup27) of the TNFRSF11A gene in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    Yao-hua KE; Hua YUE; Jin-wei HE; Yu-juan LIU; Zhen-lin ZHANG

    2009-01-01

    Aim: A previous study showed that individuals of Japanese descent affected by early onset familial Paget's disease of bone (PDB) car-ried a 27-bp duplication at position 75 (75dup27) in the TNFRSF11A gene encoding RANK. Here we report the identification of a novel mutation (78dup27) in exon 1 of TNFRSF11A in a Chinese family with early onset PDB. Methods: We conducted clinical and genetic studies in a non-consanguineous Chinese family with early onset PDB. The entire coding region of TNFRSF11A was amplified and directly sequenced directly.Results: A novel 27-bp duplication in exon 1 (78dup27) in TNFRSF11A was found in four affected individuals and one asymptomatic individual. Although this duplication was the same length as the previously identified mutation (27 bp, from bases 78 to 104), in our patients the nine duplicated amino acids in the RANK signal peptide were LLLLCALLA. The phenotypes of affected individuals in this family overlapped with both early onset PDB and classic PDB, but several distinguishing features were found in our patients. The key difference between our familial PDB and the Japanese early onset PDB was the age of onset, which in most of our patients was during their late 20s (except for the propositus' niece). Another notable difference was that the propositus' son (24 years old), who carried the 78dup27 mutation, had no clinical symptoms or bone abnormalities, except for increased serum ALP, OC and CTX.Conclusion: Our findings may provide a better understanding of the clinical features of early onset PDB and support the notion of a hot spot for mutations in exon 1 of the TNFRSF11A gene.

  16. 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

  17. 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

  18. 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

  19. Family Food Providers’ Perceptions of the Causes of Obesity and Effectiveness of Weight Control Strategies in Five Countries in the Asia Pacific Region: A Cross-Sectional Survey

    OpenAIRE

    Anthony Worsley; Wei Wang(College of William and Mary); Rani Sarmugam; Quynh Pham; Judhiastuty Februhartanty; Stacey Ridley

    2017-01-01

    The rise of the middle classes in developing countries and the associated epidemiological transition raises the importance of assessing this population group’s awareness of the causes of obesity and effective weight control strategies in order to develop effective health promotion strategies. The study aimed to examine the perceptions of the causes of obesity and weight control strategies held by middle class household food providers in Melbourne, Singapore, Shanghai, Indonesia and Vietnam. A...

  20. Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.

    Science.gov (United States)

    Scalais, Emmanuel; Bottu, Jean; Wanders, Ronald J A; Ferdinandusse, Sacha; Waterham, Hans R; De Meirleir, Linda

    2015-01-01

    In neonates, very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is often characterized by cardiomyopathy, hepatic encephalopathy, or severe hypoketotic hypoglycemia, or a combination thereof. The purpose of this study was to further elucidate a familial VLCAD deficiency in three patients, two of whom died in the neonatal period. We report on a family with VLCAD deficiency. Acyl-carnitine profiles were obtained from dried blood spot and/or from oxidation of (13) C-palmitate by cultured skin fibroblasts. In the index patient, VLCAD deficiency was ascertained by enzyme activity measurement in fibroblasts and by molecular analysis of ACADVL. At 30 hr of life, the proband was diagnosed with hypoglycemia (1.77 mmol/L), rhabdomyolysis (CK: 12966 IU/L) and hyperlactacidemia (10.6 mmol/L). Acylcarnitine profile performed at 31 hr of life was consistent with VLCAD deficiency and confirmed by cultured skin fibroblast enzyme activity measurement. Molecular analysis of ACADVL revealed a homozygous splice-site mutation (1077 + 2T>C). The acyl-carnitine profile obtained from the sibling's original newborn screening cards demonstrated a similar, but less pronounced abnormal profile. In the proband, the initial metabolic crisis was controlled with 10% dextrose solution and oral riboflavin followed by specific diet (Basic-F and medium chain triglyceride (MCT). This clinical report demonstrates a familial history of repeated neonatal deaths explained by VLCAD deficiency, and the clinical evolution of the latest affected, surviving sibling. It shows that very early metabolic screening is an effective approach to avoid sudden unexpected death.

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

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    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.

  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. Are movements necessary for the sense of body ownership? Evidence from the rubber hand illusion in pure hemiplegic patients.

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    Dalila Burin

    Full Text Available A question still debated within cognitive neuroscience is whether signals present during actions significantly contribute to the emergence of human's body ownership. In the present study, we aimed at answer this question by means of a neuropsychological approach. We administered the classical rubber hand illusion paradigm to a group of healthy participants and to a group of neurological patients affected by a complete left upper limb hemiplegia, but without any propriceptive/tactile deficits. The illusion strength was measured both subjectively (i.e., by a self-report questionnaire and behaviorally (i.e., the location of one's own hand is shifted towards the rubber hand. We aimed at examining whether, and to which extent, an enduring absence of movements related signals affects body ownership. Our results showed that patients displayed, respect to healthy participants, stronger illusory effects when the left (affected hand was stimulated and no effects when the right (unaffected hand was stimulated. In other words, hemiplegics had a weaker/more flexible sense of body ownership for the affected hand, but an enhanced/more rigid one for the healthy hand. Possible interpretations of such asymmetrical distribution of body ownership, as well as limits of our results, are discussed. Broadly speaking, our findings suggest that the alteration of the normal flow of signals present during movements impacts on human's body ownership. This in turn, means that movements have a role per se in developing and maintaining a coherent body ownership.

  4. Are movements necessary for the sense of body ownership? Evidence from the rubber hand illusion in pure hemiplegic patients.

    Science.gov (United States)

    Burin, Dalila; Livelli, Alessandro; Garbarini, Francesca; Fossataro, Carlotta; Folegatti, Alessia; Gindri, Patrizia; Pia, Lorenzo

    2015-01-01

    A question still debated within cognitive neuroscience is whether signals present during actions significantly contribute to the emergence of human's body ownership. In the present study, we aimed at answer this question by means of a neuropsychological approach. We administered the classical rubber hand illusion paradigm to a group of healthy participants and to a group of neurological patients affected by a complete left upper limb hemiplegia, but without any propriceptive/tactile deficits. The illusion strength was measured both subjectively (i.e., by a self-report questionnaire) and behaviorally (i.e., the location of one's own hand is shifted towards the rubber hand). We aimed at examining whether, and to which extent, an enduring absence of movements related signals affects body ownership. Our results showed that patients displayed, respect to healthy participants, stronger illusory effects when the left (affected) hand was stimulated and no effects when the right (unaffected) hand was stimulated. In other words, hemiplegics had a weaker/more flexible sense of body ownership for the affected hand, but an enhanced/more rigid one for the healthy hand. Possible interpretations of such asymmetrical distribution of body ownership, as well as limits of our results, are discussed. Broadly speaking, our findings suggest that the alteration of the normal flow of signals present during movements impacts on human's body ownership. This in turn, means that movements have a role per se in developing and maintaining a coherent body ownership.

  5. 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.

  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. Family Food Providers’ Perceptions of the Causes of Obesity and Effectiveness of Weight Control Strategies in Five Countries in the Asia Pacific Region: A Cross-Sectional Survey

    Directory of Open Access Journals (Sweden)

    Anthony Worsley

    2017-01-01

    Full Text Available The rise of the middle classes in developing countries and the associated epidemiological transition raises the importance of assessing this population group’s awareness of the causes of obesity and effective weight control strategies in order to develop effective health promotion strategies. The study aimed to examine the perceptions of the causes of obesity and weight control strategies held by middle class household food providers in Melbourne, Singapore, Shanghai, Indonesia and Vietnam. An online survey was conducted in late 2013, early 2014 among 3945 respondents. Information about body weight concerns, perceived causes of obesity, effectiveness of weight control methods, demographics, self-reported height and weight, and personal values was elicited. Confirmatory factor analyses (CFA derived nine reliable factors which were used in structural equation modelling (SEM. Two thirds of respondents were trying to change their body weight, of them, 71% were trying to lose weight. The CFA and SEM showed that demographics, region of residence, personal values and perceptions of the causes of obesity (Unhealthy food behaviours, influences Beyond personal control and Environmental influences had direct and indirect associations with three weight control methods factors, named: Healthy habits, Eat less, sit less, and Dieting. Middle class food providers in the study regions share public health views of obesity causation and personal weight control. These findings could inform public health and food policies, and the design of public health interventions and communications. Further research is required among lower socio economic status (SES populations.

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

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    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. Hunting for the genetic cause in a case with familial Peripartum/Dilated cardiomyopathy using haplotype sharing analysis and exome sequencing

    NARCIS (Netherlands)

    Van Spaendonck-Zwarts, K.Y.; Jongbloed, J.D.H.; Van Der Zwaag, P.A.; Posafalvi, A.; Koetsier, W.; Van Langen, I.M.; Van Veldhuisen, D.J.; Sinke, R.J.; Van Den Berg, M.P.; Van Tintelen, J.P.

    2011-01-01

    Background/purpose: Peripartum cardiomyopathy (PPCM) is a cause of pregnancyassociated heart failure. It typically develops during the last month of pregnancy and up to six months after delivery in women without known cardiovascular disease. Recently, we showed that some cases of PPCM are part of th

  10. 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.

  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. A comparative study of the effects of trunk exercise program in aquatic and land-based therapy on gait in hemiplegic stroke patients.

    Science.gov (United States)

    Park, Byoung-Sun; Noh, Ji-Woong; Kim, Mee-Young; Lee, Lim-Kyu; Yang, Seung-Min; Lee, Won-Deok; Shin, Yong-Sub; Kim, Ju-Hyun; Lee, Jeong-Uk; Kwak, Taek-Yong; Lee, Tae-Hyun; Park, Jaehong; Kim, Junghwan

    2016-06-01

    [Purpose] The purpose of this study was to compare the effects of aquatic and land-based trunk exercise program on gait in stroke patients. [Subjects and Methods] The subjects were 28 hemiplegic stroke patients (20 males, 8 females). The subjects performed a trunk exercise program for a total of four weeks. [Results] Walking speed and cycle, stance phase and stride length of the affected side, and the symmetry index of the stance phase significantly improved after the aquatic and land-based trunk exercise program. [Conclusion] These results suggest that the aquatic and land-based trunk exercise program may help improve gait performance ability after stroke.

  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. Bioequivalence studies of tibolone in premenopausal women and effects on expression of the tibolone-metabolizing enzyme AKR1C (aldo-keto reductase) family caused by estradiol.

    Science.gov (United States)

    Kang, Keon W; Kim, Yoon G

    2008-12-01

    This study aimed to investigate the bioequivalence of a test formulation of tibolone with the marketed reference formulation in 24 young healthy female volunteers. Tibolone is a synthetic steroid hormone for menopausal women. Volunteers were treated with the 2 formulations of tibolone (total dose of active ingredient 2.5 mg) according to a 2 x 2 crossover design with a 1-week washout period. Plasma concentrations of 3alpha- and 3beta-hydroxytibolone, which are major metabolites of tibolone, were assayed in timed samples over a 24-hour period with a validated gas chromatography/mass spectrometry (GC/MS) method that had a lower limit of quantification of 0.5 ng/mL. The reference and test formulations gave a mean 3alpha-hydroxytibolone C(max) of 5.0 and 5.2 ng/mL, respectively, and a mean 3beta-hydroxytibolone C(max) of 16.4 and 16.5 ng/mL, respectively. The mean AUC(t) of 3alpha-hydroxytibolone was 24.7 and 24.3 ng h/mL, whereas the mean AUC(t) of 3beta-hydroxytibolone was 57.6 and 54.8 ng h/mL for the test and reference formulations, respectively. The authors did not find significant differences in pharmacokinetic parameters between the 2 formulations, but metabolite formation was different from reports in postmenopausal women. The authors therefore measured the effects of estradiol on the expression of the tibolone-metabolizing enzymes, from the aldo-keto reductase (AKR1C) family, using HepG2 cell (human hepatoma cells) and MCF-7 cell (human breast cancer cells). Estradiol increased mRNA levels of AKR1C1, AKR1C2, and AKR1C3 and protein levels of total AKR1C in HepG2 cells. Estradiol selectively enhanced levels of AKR1C2 mRNA in MCF-7 cells. Thus, changes in the major metabolites of tibolone might result from changes in AKR1C family expression by patient estrogen status.

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

    Science.gov (United States)

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

    2008-06-01

    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 of 128 seemingly neutral exonic and intronic DNA variants, discovered by routine sequencing of these genes. Two variants, G186G and R385R, were found to be associated with altered splicing. The nucleotide change leading to G186G resulted in the generation of new 3'-splice donor site in exon 4 and R385R was associated with a new 5'-splice acceptor site in exon 9 of the LDL receptor gene. Splicing of these alternate splice sites leads to an in-frame 75-base pair deletion in a stable mRNA of exon 4 in case of G186G and R385R resulted in a 31-base pair frame-shift deletion in exon 9 and non-sense-mediated mRNA decay.

  16. 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.

  17. 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

  18. 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 

  19. 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.

  20. 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.

  1. Implementation of an iPod wireless accelerometer application using machine learning to classify disparity of hemiplegic and healthy patellar tendon reflex pair.

    Science.gov (United States)

    LeMoyne, Robert; Kerr, Wesley T; Zanjani, Kevin; Mastroianni, Timothy

    2014-03-01

    The characteristics of the patellar tendon reflex provide fundamental insight regarding the diagnosis of neurological status. Based on the features of the tendon reflex response, a clinician may establish preliminary perspective regarding the global condition of the nervous system. Current techniques for quantifying the observations of the reflex response involve the application of ordinal scales, requiring the expertise of a highly skilled clinician. However, the reliability of the ordinal scale approach is debatable. Highly skilled clinicians have even disputed the presence of asymmetric reflex pairs. An alternative strategy was the implementation of an iPod wireless accelerometer application to quantify the reflex response acceleration waveform. An application enabled the recording of the acceleration waveform and later wireless transmission as an email attachment by connectivity to the Internet. A potential energy impact pendulum enabled the patellar tendon reflex to be evoked in a predetermined and targeted manner. Three feature categories of the reflex response acceleration waveform (global parameters, temporal organization, and spectral features) were incorporated into machine learning to distinguish a subject's hemiplegic and healthy reflex pair. Machine learning attained perfect classification of the hemiplegic and healthy reflex pair. The research findings implicate the promise of machine learning for providing increased diagnostic acuity regarding the acceleration waveform of the tendon reflex response.

  2. 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.

  3. Mitochondrial protein alterations in a familial peripheral neuropathy caused by the V144D amino acid mutation in the sphingolipid protein, SPTLC1.

    Science.gov (United States)

    Stimpson, Scott E; Coorssen, Jens R; Myers, Simon J

    2015-01-01

    Axonal degeneration is the final common path in many neurological disorders. Subsets of neuropathies involving the sensory neuron are known as hereditary sensory neuropathies (HSNs). Hereditary sensory neuropathy type I (HSN-I) is the most common subtype of HSN with autosomal dominant inheritance. It is characterized by the progressive degeneration of the dorsal root ganglion (DRG) with clinical symptom onset between the second or third decade of life. Heterozygous mutations in the serine palmitoyltransferase (SPT) long chain subunit 1 (SPTLC1) gene were identified as the pathogenic cause of HSN-I. Ultrastructural analysis of mitochondria from HSN-I patient cells has displayed unique morphological abnormalities that are clustered to the perinucleus where they are wrapped by the endoplasmic reticulum (ER). This investigation defines a small subset of proteins with major alterations in abundance in mitochondria harvested from HSN-I mutant SPTLC1 cells. Using mitochondrial protein isolates from control and patient lymphoblasts, and a combination of 2D gel electrophoresis, immunoblotting and mass spectrometry, we have shown the increased abundance of ubiquinol-cytochrome c reductase core protein 1, an electron transport chain protein, as well as the immunoglobulin, Ig kappa chain C. The regulation of these proteins may provide a new route to understanding the cellular and molecular mechanisms underlying HSN-I.

  4. 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

  5. Family Life

    Science.gov (United States)

    ... With Family and Friends > Family Life Request Permissions Family Life Approved by the Cancer.Net Editorial Board , ... your outlook on the future. Friends and adult family members The effects of cancer on your relationships ...

  6. Dissolved families

    DEFF Research Database (Denmark)

    Christoffersen, Mogens

    The situation in the family preceding a family separation is studied here, to identify risk factors for family dissolution. Information registers covering prospective statistics about health aspects, demographic variables, family violence, self-destructive behaviour, unemployment, and the spousal...

  7. Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi.

    Science.gov (United States)

    Tanphaichitr, Voravarn S; Hirono, Akira; Pung-amritt, Parichat; Treesucon, Ajjima; Wanachiwanawin, Wanchai

    2011-07-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common hereditary enzymopathies worldwide. Mostly G6PD deficient cases are asymptomatic though they may have the risk of neonatal jaundice (NNJ) and acute intravascular hemolysis during oxidative stress. Chronic nonspherocytic hemolytic anemia (CNSHA) due to G6PD deficiency is rare. In Thailand, one case was reported 40 years ago and by biochemical study this G6PD was reported to be a new variant G6PD Bangkok. We, herein, report two families with CNSHA due to G6PD deficiency. In the first family, we have been following up the clinical course of the patient with G6PD Bangkok. In addition to chronic hemolysis, he had three acute hemolytic episodes requiring blood transfusions during childhood period. Multiple gallstones were detected at the age of 27. His two daughters who inherited G6PD Bangkok from him and G6PD Vanua Lava from his wife are asymptomatic. Both of them had NNJ and persistent evidences of compensated hemolysis. Molecular analysis revealed a novel missense mutation 825 G→C predicting 275 Lys→Asn causing G6PD Bangkok. In the second family, two male siblings are affected. They had NNJ and several hemolytic episodes which required blood transfusions. On follow-up they have been diagnosed with chronic hemolysis as evidenced by reticulocytosis and indirect hyperbilirubinemia. Molecular analysis revealed combined missense mutations in exons 12 and 13. The first mutation was 1376 G→T predicting 459 Arg→Leu (known as G6PD Canton) and the second one was 1502 T→G predicting 501 Phe→Cys. We designated the resulting novel G6PD variant, G6PD Bangkok Noi.

  8. 家庭承包经营权主体二元化成因及影响探析%Exploration of Causes and Impact of the Subject Dualization in Family Contractual Operation Right

    Institute of Scientific and Technical Information of China (English)

    武奎

    2012-01-01

    2002年颁布的《农村土地承包法》突破了原有法律关于家庭承包经营权主体一元化的规定,采取了二元化的立法模式。本文通过对家庭承包经营权主体的立法沿革进行分析,明晰立法转变的原因,并探究二元化的立法模式所带来的问题及影响。%The Contract Law of Rural Land was promulgated in 2002, breaking through the pro- visions of the existing laws of the family centralized contractual right and adopting the dualized legisla- tion. Based on the analysis of the legislative history of the family contractual operation right, the paper makes clear of the causes of legislative changes and mode of dualization. explores the problems and the impact of legislative

  9. 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。

  10. 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.

  11. 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.

  12. 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.

    Science.gov (United States)

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

    2011-03-01

    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 increased his plegic forearm bone health during a 14-month virtual reality videogame hand telerehabilitation intervention. A total of 14 months after the intervention ended, repeat evaluation demonstrated maintenance of both increased hand function and forearm bone health. The implications of this work for the future of rehabilitation in children with neurological disabilities are discussed in this article.

  13. 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.

  14. Retraction: 'Beneficial Effect of Intermittent Cyclical Etidronate Therapy in Hemiplegic Patients Following an Acute Stroke' by Y. Sato, T. Asoh, M. Kaji and K. Oizumi.

    Science.gov (United States)

    2016-10-01

    The above article, published online on 1 December 2000 in Wiley Online Library (wileyonlinelibrary.com), and in Volume 15, Issue 12, pages 2487-2494, has been retracted by agreement between the authors, the Journal Editor in Chief, Juliet Compston, and Wiley Periodicals, Inc. The retraction has been agreed due to concerns about the underlying data to which the authors have given no satisfactory response. Dr Sato acknowledges that his co-authors are named as such for honorary reasons and are not responsible for the content of the manuscript. Reference Sato, Y., Asoh, T., Kaji, M. and Oizumi, K. (2000) Beneficial Effect of Intermittent Cyclical Etidronate Therapy in Hemiplegic Patients Following an Acute Stroke. J Bone Miner Res, 15:2487-2494. doi: 10.1359/jbmr.2000.15.12.2487.

  15. To compare the effectiveness of constraint induced movement therapy versus motor relearning programme to improve motor function of hemiplegic upper extremity after stroke

    Science.gov (United States)

    Batool, Sana; Soomro, Nabila; Amjad, Fareeha; Fauz, Rabia

    2015-01-01

    Objective: To compare the effectiveness of constraint induced movement therapy versus motor relearning programme to improve motor function of hemiplegic upper extremity after stroke. Method: A sample of 42 patients was recruited from the Physiotherapy Department of IPM&R and Neurology OPD of Civil Hospital Karachi through non probability purposive sampling technique. Twenty one patients were placed to each experimental and control groups. Experimental group was treated with Constraint Induced Movement Therapy (CIMT) and control group was treated with motor relearning programme (MRP) for three consecutive weeks. Pre and post treatment measurements were determined by upper arm section of Motor Assessment Scale (MAS) and Self Care item of Functional Independence Measure (FIM) Scale. Results: Intra group analysis showed statistically significant results (p-value<0.05) in all items of MAS in both groups. However, advanced hand activities item of MAS in MRP group showed insignificant result (p-value=0.059). Self-care items of FIM Scale also showed significant result (p-value< 0.05) in both groups except dressing upper body item (p-value=0.059) in CIMT group and grooming and dressing upper body items (p-value=0.059 & 0.063) in MRP group showed insignificant p-values. Conclusion: CIMT group showed more significant improvement in motor function and self-care performance of hemiplegic upper extremity as compared to MRP group in patients with sub-acute stroke assessed by the MAS and FIM scales. Thus CIMT is proved to be more statistically significant and clinically effective intervention in comparison to motor relearning programme among the patients aged between 35-60 years. Further studies are needed to evaluate CIMT effects in acute and chronic post stroke population. PMID:26649007

  16. 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

  17. Family History

    Science.gov (United States)

    Your family history includes health information about you and your close relatives. Families have many factors in common, including their genes, ... as heart disease, stroke, and cancer. Having a family member with a disease raises your risk, but ...

  18. 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 ...

  19. 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 ...

  20. Family Therapy

    Science.gov (United States)

    ... may be credentialed by the American Association for Marriage and Family Therapy (AAMFT). Family therapy is often short term. ... challenging situations in a more effective way. References Marriage and family therapists: The friendly mental health professionals. American Association ...

  1. 高校家庭经济困难学生心理困境的成因和疏解%The Cause and Solution to Psychological Difficultiesof Family Economic Difficulties Students in Universities

    Institute of Scientific and Technical Information of China (English)

    李雪菲; 蒋鹏翔

    2015-01-01

    高校家庭经济困难学生作为高校中的特殊群体,他们经济困难、存在地域差异,接受的教育资源匮乏,这些因素容易使他们走入心理困境,尽管各高校都建立了多元化的资助政策体系,但物质上的扶助并不能根本解决心理上的困境。因此,本文从心理角度出发,研究心理困境形成的原因,提出策略帮助家庭经济困难学生走出心理困境,学会自我调适,保持身心健康。%Family economic difficulties students in colleges and universities as a special group,the factors of economic difficul-ties,regional differences and lack of education resources make them in the psychological delima.Although universities have es-tablished diversified financing policy system,material aids cannot fundamentally solve their psychological dilemma.Therefore, this article studies the causes of the formation of psychological difficulties from the psychological perspective,and puts forward the strategy to help family economic difficulties students out of psychological trouble,learn to self adjustment,maintain physical and mental health.

  2. Discussion of the Community Rehabilitation Modality for Hemiplegic Patients Caused By Stroke%脑卒中偏瘫患者社区康复模式探讨

    Institute of Scientific and Technical Information of China (English)

    郑东鹏

    2010-01-01

    由于人口老龄化、脑卒中偏瘫患者的增多及人们对康复治疗进一步认识和需求增加,凭三级和二级医院康复科已远不能满足人们对康复的需求,社区医院以其经济、有效、方便的特点越来越凸显出它的优越性.因此大力推广社区康复显得尤为重要.运用多种Bobath疗法、Brunnstroom疗法、Rood疗法、PNF、作业疗法、心理疗法、传统治疗等技术对患者进行综合的康复治疗,使脑卒中患者提高肢体运动功能及ADL能力、社会适应能力及对于改善生活质量起到重要作用.同时降低康复费用减少家庭负担并取得较大的康复效果.

  3. 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

  4. 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.

  5. 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

  6. 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…

  7. 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...

  8. 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.

  9. 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.

  10. Pars planitis in a family.

    Science.gov (United States)

    Tejada, P; Sanz, A; Criado, D

    1994-01-01

    The familial occurrence of pars planitis is rare. We have found ten cases reported previously. We describe a new case of pars planitis in a family. The affected members included a mother and two of her four children. The family was tested for HLA antigens in order to establish a comparison with others HLA types by different authors. We have not identified any cause for the familial occurrence of this disease. We discuss the role of genetic and ambiental factors.

  11. 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.

  12. 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

  13. The effects of a 12-week program of static upper extremity weight bearing exercises on weight bearing in children with hemiplegic type of cerebral palsy

    Directory of Open Access Journals (Sweden)

    P. Jayaraman

    2010-02-01

    Full Text Available The  major  objective  of  this  study  was  to  quantify  the  effects  of a  12-week  program  of  weight  bearing  exercises  on  weight  borne  through  the hand and grip pressures in children with hemiplegic cerebral palsy. This study also sought to monitor the change in spasticity immediately following weight-bearing  exercises.  A  quasi-experimental,  one  group  pre-test,  post-test  study  was used. Eleven children with hemiplegic type of cerebral palsy from a special school in KwaZulu Natal participated after fully informed written consent. The intervention consisted of a 12-week program of weight bearing. The Tekscan Grip system was used to quantify weight borne through the hand during extended arm prone and quadruped positions and whilst holding a pencil and a tumbler. The modified Ashworth grading of spasticity was used to monitor spasticity. The data was analysed using the random effects GLS model Wald Chi Square test. Significant increases in contact pressure in extended arms prone (p=0,012 and quadruped (p=0,002 and when holding a pencil (p=0,045 was noted post-test compared to pre-test. Significant increases in contact area of the hand was also noted in prone (p=0,000, quadruped (p=0, 03 at assessment 7 and when holding a pencil (p=0,035.  A significant decrease in spasticity during elbow extension (p=0,004, and wrist flexion (p=0,026 and extension (p=0,004 was noted. An overall significant effect of static weight bearing exercises on weight borne through the hands, grip strength and spasticity justifies the use of static weight-bearing in therapy.

  14. 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.

  15. 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

  16. Familial dermographism.

    Science.gov (United States)

    Jedele, K B; Michels, V V

    1991-05-01

    Urticaria in response to various physical stimuli has been reported in sporadic and familial patterns. The most common of these physical urticarias, dermographism, is a localized urticarial response to stroking or scratching of the skin and has not been reported previously to be familial. A four-generation family with dermographism, probably inherited as an autosomal dominant trait, is presented along with a discussion of sporadic dermographism and other types of familial physical urticarias.

  17. 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.

  18. Reliability and validity of the Visual Gait Assessment Scale for children with hemiplegic cerebral palsy when used by experienced and inexperienced observers.

    Science.gov (United States)

    Brown, C R; Hillman, S J; Richardson, A M; Herman, J L; Robb, J E

    2008-05-01

    This study investigated the reliability and validity of the Visual Gait Assessment Scale when used by experienced and inexperienced observers. Four experienced and six inexperienced observers viewed videotaped footage of four children with hemiplegic cerebral palsy on two separate occasions. Validity of the Scale was obtained by comparison with three-dimensional gait analysis (3DGA). The experienced observers generally had higher inter-observer and intra-observer reliability than the inexperienced observers. Both groups showed higher agreement for assessments made at the ankle and foot than at the knee and hip. The experienced observers had slightly higher agreement with 3DGA than the inexperienced observers. The inexperienced observers showed a learning effect and had higher inter-observer agreement and higher agreement with 3DGA in the second assessment of the videotapes. This scale can be used by inexperienced observers but is limited to observations in the sagittal plane and by poor reliability at the knee and hip for experienced and inexperienced observers.

  19. The Rafita asteroid family

    Science.gov (United States)

    Aljbaae, S.; Carruba, V.; Masiero, J. R.; Domingos, R. C.; Huaman, M.

    2017-01-01

    The Rafita asteroid family is an S-type group located in the middle main belt, on the right side of the 3J:-1A mean-motion resonance. The proximity of this resonance to the family left side in semi-major axis caused many former family members to be lost. As a consequence, the family shape in the (a, 1/D) domain is quite asymmetrical, with a preponderance of objects on the right side of the distribution. The Rafita family is also characterized by a leptokurtic distribution in inclination, which allows the use of methods of family age estimation recently introduced for other leptokurtic families such as Astrid, Hansa, Gallia, and Barcelona. In this work we propose a new method based on the behavior of an asymmetry coefficient function of the distribution in the (a, 1/D) plane to date incomplete asteroid families such as Rafita. By monitoring the time behavior of this coefficient for asteroids simulating the initial conditions at the time of the family formation, we were able to estimate that the Rafita family should have an age of 490 ± 200 Myr, in good agreement with results from independent methods such as Monte Carlo simulations of Yarkovsky and Yorp dynamical induced evolution and the time behaviour of the kurtosis of the sin (i) distribution. Asteroids from the Rafita family can reach orbits similar to 8% of the currently known near Earth objects. ≃1% of the simulated objects are present in NEO-space during the final 10 Myr of the simulation, and thus would be comparable to objects in the present-day NEO population.

  20. 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

  1. Family Polymorphism

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

    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...... polymorphism as a way to overcome this problem. Family polymorphism has been implemented in the programming language gbeta, a generalized version of Beta, and the source code of this implementation is available under GPL....

  2. 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

  3. 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

  4. 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....

  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. 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。

  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. 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.

  13. 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.

  14. 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.

  15. FAMILY PLATYSTOMATIDAE.

    Science.gov (United States)

    Wendt, Lisiane Dilli

    2016-06-14

    Platystomatidae (Signal Flies) are one of the largest families of Tephritoidea, with about 1200 species and four subfamilies, worldwide distributed. However, Platystomatidae are not well represented in the New World, and in the Neotropical Region only four genera and 26 species, belonging to Platystomatinae, are recorded. The family is a group understudied in Colombia and only one species is recorded to the country.

  16. 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…

  17. 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.

  18. Family solidarity in the Netherlands

    NARCIS (Netherlands)

    Dykstra, P.A.; Kalmijn, M.; Knijn, T.C.M.; Komter, A.E.; Liefbroer, A.C.; Mulder, C.H.

    2007-01-01

    So far, little is understood about the causes and potential implications of changing family patterns. Insight into these processes is essential in framing policies to safeguard the solidarity thal families help providing.This volume aims to contribute to this insight by offering a first overview of

  19. 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,

  20. 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.

  1. Family matters

    DEFF Research Database (Denmark)

    Kieffer-Kristensen, Rikke; Siersma, Volkert Dirk; Teasdale, Thomas William

    2013-01-01

    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...... by the parents using the Achenbach’s Child Behaviour Checklist (CBCL). RESULTS: The family stress variables relating to the healthy spouse in all six comparisons were significant (p

  2. Small Families

    Science.gov (United States)

    ... neighborhood activity centers also can fulfill these needs. Even if your relatives are scattered, try to strengthen your child's sense of family by keeping in touch by phone and letters. Encourage your child to draw pictures for relatives, ...

  3. 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 ...

  4. 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。

  5. 家庭安装漏电开关后发生触电事故原因分析%Analysis on the Cause of Electric Shock After Installing GFCI in Family

    Institute of Scientific and Technical Information of China (English)

    何伟洪; 陈树东

    2015-01-01

    This paper introduces the electric shock accidents, and discusses the reasons for the cases though installing the GFCI in family.%本文通过已经发生的触电案例,论述为什么电器或者住宅安装了漏电开关,但还是发生触电事故的原因,并提出合理化建议.

  6. 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

  7. CACNA1A基因的错义突变R1345Q导致一种新的共济失调伴随发作性全身震颤:临床特征、基因诊断及治疗的家系分析%Missense mutation R1345Q in CACNA1A gene causes a new type of ataxia with episodic tremor:clinical features, genetic analysis and treatment in a familial case

    Institute of Scientific and Technical Information of China (English)

    蒋海山; 王冬梅; 王群; 杨曼; 王伟; 潘速跃; 胡亚芳

    2016-01-01

    目的: CACNA1A基因编码P/Q型钙离子通道的亚单位,它的突变至少造成3种等位基因病:发作性共济失调2型(EA-2)、家族性偏瘫性偏头痛1型(FHM1)和小脑脊髓共济失调6型(SCA 6)。本研究对一例19岁男性的发作性全身震颤患者的临床表现、基因分析结果和治疗效果进行研究。方法对病人及家系中有类似症状的成员进行专科查体;对先证者的DNA进行下一代测序分析以寻找致病基因,并用Sanger测序方法对家系成员进行基因变异的验证。结果神经专科查体显示患者共济失调体征,醉酒步态,头和躯干震颤。家系中另4个成员的症状和体征较轻。基因检测发现先证者携带有CACNA1A基因的杂合错义突变(NM_001127221.1 c.4034G->A, p.R1345Q, exon 25),为致病突变。家系中4个患病成员中也携带同样杂合突变。病人经醋甲唑胺治疗后效果不佳,但钙离子通道阻断剂西比灵治疗效果良好。结论根据患者的临床表现、基因突变类型和治疗效果,我们认为患者CACNA1A基因突变R1345Q所引起的疾病不属于EA2,FHM1,或SCA 6任何一种,而是一种新的伴有发作性震颤共济失调。%Objective Mutations in CACNA1A, which encodes the P/Q-type calcium channel subunit, are responsible for at least 3 allelic diseases, namely type 2 episodic ataxia (EA-2), familial hemiplegic migraine type-1 (FHM1), and spinocerebellar ataxia type-6 (SCA 6). Herein we present a case of ataxia with episodic tremors in a 19-year-old man with a missense mutation of CACNA1A gene and summarize the clinical features, genetic analysis and treatment in this case and in his affected family members. Methods Physical examinations were conducted for the patient and his affected family members. DNA sample from the proband was analyzed with next-generation sequencing technology to identify the causative mutation. Sanger sequencing was used to confirm the gene

  8. 晋商衰落的原因探析——以介休范氏为切入点的考察%On Causes of Jin Merchants' Decline --A Case Study of the Fan Family of Jiexiu

    Institute of Scientific and Technical Information of China (English)

    王晓媛

    2012-01-01

    Jin merchants was one of the earliest business cartels in the Ming Dynasty and early Qing Dynasty, ranking first in its field in China. However in the middle of Qing Dynasty, the Jin merchants' business cartel began to decline, and ultimately unknown in history. The Fan family of Jiexiu in Jin merchants had once been a prominent family, bearing special status and conducting special business activities. In Ming and Qing dynasties, the Fan family had under- gone the process of rise, prosperity and decline. The decline and fall of the them may be due to historical inevitability, but has their own reasons. The study of the process of the Fans' rise, development and fall may provide reference for the study of Jin merchants.%晋商是中国最早的商帮之一,在明代及清代初期,都是国内商帮中的佼佼者。但从清代中期开始,晋商开始走下坡路,最终默默无闻,淹没在历史的长河中。介休范氏是晋商中身份、地位以及经营活动都比较特殊的一个望族。明清两代,介休范氏经历发端、崛起、鼎盛乃至衰亡的过程。介休范氏的衰亡,有其历史必然性,也有其自身的原因。研究介休范氏兴起、发展乃至消亡的过程,对研究晋商具有一定的借鉴意义。

  9. 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 ...

  10. 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.

  11. Family Structure and Family Processes in Mexican American Families

    OpenAIRE

    Zeiders, Katharine H.; Roosa, Mark W.; Tein, Jenn-Yun

    2011-01-01

    Despite increases in single-parent families among Mexican Americans (MA), few studies have examined the association of family structure and family adjustment. Utilizing a diverse sample of 738 Mexican American families (21.7% single parent), the current study examined differences across family structure on early adolescent outcomes, family functioning, and parent-child relationship variables. Results revealed that early adolescents in single parent families reported greater school misconduct,...

  12. 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...

  13. 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.

  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. 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.

  16. 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

  17. Motor Learning Abilities Are Similar in Hemiplegic Cerebral Palsy Compared to Controls as Assessed by Adaptation to Unilateral Leg-Weighting during Gait: Part I

    Science.gov (United States)

    Damiano, Diane L.; Stanley, Christopher J.; Bulea, Thomas C.; Park, Hyung Soon

    2017-01-01

    Introduction: Individuals with cerebral palsy (CP) demonstrate high response variability to motor training insufficiently accounted for by age or severity. We propose here that differences in the inherent ability to learn new motor tasks may explain some of this variability. Damage to motor pathways involving the cerebellum, which may be a direct or indirect effect of the brain injury for many with CP, has been shown to adversely affect the ability to learn new motor tasks and may be a potential explanation. Classic adaptation paradigms that evaluate cerebellar integrity have been utilized to assess adaptation to gait perturbations in adults with stroke, traumatic brain injury and other neurological injuries but not in children with CP. Materials and Methods: A case-control study of 10 participants with and 10 without hemiplegic CP within the age range of 5–20 years was conducted. Mean age of participants in the CP group was slightly but not significantly higher than controls. Step length and swing time adaptation, defined as gradual accommodation to a perturbation, and aftereffects, or maintenance of the accommodation upon removal of the perturbation, to unilateral leg weighing during treadmill gait were quantified to assess group differences in learning. Results: Adaptation and aftereffects were demonstrated in step length across groups with no main effect for group. In CP, the dominant leg had a greater response when either leg was weighted. Swing time accommodated immediately (no adaptation) in the weighted leg only, with the non-dominant leg instead showing a more pronounced response in CP. Discussion: This group of participants with unilateral CP did not demonstrate poorer learning or retention similar to reported results in adult stroke. Deficits, while not found here, may become evident in those with other etiologies or greater severity of CP. Our data further corroborate an observation from the stroke literature that repeated practice of exaggerating the

  18. Finding Family

    Institute of Scientific and Technical Information of China (English)

    LIU YUNYUN

    2010-01-01

    @@ It took 14 years--and just two min-utes-for an adopted Chinese girl to find her biological family. July 21 this year marked the first anniversary of Haley Butler's finding of her biological parents in Maanshan in east China's Anhui Province.

  19. 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

  20. 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 abst...... the result as family genericity. The presented language design has been implemented....

  1. My Family

    Institute of Scientific and Technical Information of China (English)

    刘才来

    2002-01-01

    There are four people in my family. They are grandma, father,mother and I. Now we all live in Wuhan. They are from different places. My grandma comes from Sichuan. She likes hot(辣4的) meat very much. She doesn't like bread or noodles at all. She likes vegetables a little. My father is from Guang Zhou.

  2. 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.

  3. FAMILY RICHARDIIDAE.

    Science.gov (United States)

    Wendt, Lisiane Dilli; Ale-Rocha, Rosaly

    2016-06-14

    Richardiidae are a family of "acalyptrate" Diptera represented by ca. 180 species distributed in the New World, mostly in the Neotropical region. The species that occur in Colombia have received little attention from taxonomists, and the great majority of them are known only from their type localities. Currently, 14 genera and 23 species are known to occur in the country.

  4. My Family

    Institute of Scientific and Technical Information of China (English)

    李梅

    2012-01-01

    There are four people in my family--my parents, my brother and I. My name is Li Mei. I'm fifteen years old. I am of medium height and build. I like English very much. It's very interesting. I can play the piano very well. It makes me feel very happy.

  5. 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。

  6. 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.

  7. 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.

  8. 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.

  9. 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。

  10. 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.

  11. Natural Family Planning

    Science.gov (United States)

    ... Sex and Birth Control Birth Control Natural Family Planning Natural Family Planning Birth ControlPrevention and WellnessSex and Birth Control Share Natural Family Planning Natural Family PlanningWhat is natural family planning?Natural ...

  12. ZASP基因突变所致肌原纤维病一家系报道及文献复习%Case Report of A Family with Myoifbrillar Myopathy Caused byZASP Gene Mutation and Literature Review

    Institute of Scientific and Technical Information of China (English)

    陈阳; 奚剑英; 罗苏珊; 卢家红; 赵重波

    2016-01-01

    目的:通过对ZASP基因突变所致肌原纤维病一家系报道及文献复习,了解该病的临床、病理及基因突变特点。方法分析1例远端肌病患者的临床、肌肉MRI及肌肉病理特点,并追踪其家系家族史。先证者外周血提取DNA,进行目标区序列捕获二代测序(含58个肌病相关基因),明确存在ZASP基因变异。对家系其他成员进行Sanger测序进一步明确及验证突变位点。结果先证者为中年女性,52岁起病,表现为进行性双下肢无力伴双腿变细。先证者家系2代15名中,除先证者外共6名存在肌肉受累,4名为先证者同代亲属,临床特点与先证者类似;2名为先证者下一代亲属,其中1名仅有闭目肌受累及肌酸激酶(CK)轻度升高(291 U·L-1),另1名仅有CK轻度升高(199 U·L-1)。先证者肌肉病理发现肌细胞内有异常嗜伊红物质沉积和镶边空泡形成,免疫组化染色可见肌纤维内desmin蛋白沉积。电镜下可见Z线附近致密颗粒沉积。目标区序列捕获二代测序及Sanger测序确定该家系致病基因为ZASP基因已报道错义突变p.A147T(c.G439A)。结论 ZASP基因突变所致的肌原纤维病家系为国内首次报道。%Aim To explore the clinical, pathological genetic findings of a family with Z-disc alternatively spliced PDZ-domain containing protein (ZASP) myopathy.MethodsThe clinical features, muscle MRI presents and pathological ifndings of a family with distal myopathy was analyzed. Genomic DNA of the proband was extracted from peripheral blood and the next generation sequencing of target gene (including 58 myopathy genes) was performed to explore the mutation ofZASP gene. Sanger sequencing was performed in other members of the family to identify the mutation.ResultsThe proband was a middle age woman and she suffered progressive lower limbs weakness and atrophy at her age of 52 years old. And there were six other members suffered involvement of

  13. 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

  14. 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。

  15. 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.

  16. 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.

  17. 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)

  18. 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.

  19. 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.

  20. Study on the causes of deafness in a consanguineous marriage family using DNA microarray%应用基因芯片技术对一近亲婚配耳聋家系致聋机制的分析

    Institute of Scientific and Technical Information of China (English)

    金鹏; 于姝媛; 祝威; 汤勇; 杜波; 王苹

    2011-01-01

    Objective: To determine the possible gene mutation and its different sites that leads to hearing loss in a consanguineous marriage pedigree. Method: Blood samples from a Changchun pedigree were obtained with informed consent. Their genomic DNA were extracted from peripheral blood and PCR was performed. Nine of hot spot mutations in four most common deafness pathologic gene were detected with the DNA microarray, including GJB2, GJB3, PDS and mtDNA 12S RNA gene. At the same time, the results were confirmed with the traditional methods of sequencing. Result: GJB2 gene of 235 delC and 299-300 delAT compound heterozygous mutation was found in propositus. His father was 299-300 delAT homozygous mutation and mother was 235 delC homozygous mutation. In the relatives on the paternal side, the affected patients all were 299-300 delAT homozygous mutation and normal hearing member was 299-300 delAT heterozygous carrier. This GJB2 mutation come from grandparents of consanguineous marriage. Conclusion:GJB2 gene mutation played on an important role in this deafness family. It is essential approach for genetic diagnosis of non - syndromic sensorineural hearing loss.%目的:在DNA水平上对一个非综合征型耳聋家系进行耳聋易感基因的突变筛查,确定家系成员的致病基因及分型.方法:收集家系成员外周血,提取DNA进行等位基因多重PCR,基因芯片杂交筛查GJB2、GJB3、PDS和mtDNA 12S RNA基因突变,DNA测序验证基因芯片结果.结果:先证者为GJB2基因235 delC和299-300 delAT复合杂合,其父母分别为GJB2基因235 delC和299-300 delAT纯合突变基因型,父系亲属中耳聋者均为299-300 delAT纯合突变基因型,听力正常成员为杂合基因型,该致病基因来源于近亲婚配祖父母.结论:GJB2基因突变是导致该家系发生耳聋的致病因素,耳聋基因芯片检测是确定遗传性聋病因的必要手段.

  1. 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. ...

  2. Na+,K+ pumpen vedbliver at overraske

    DEFF Research Database (Denmark)

    Vilsen, Bente

    2008-01-01

    and the regulation of Na+ transport by a strategically located C-terminus of the protein. Focus is also on the pathophysiology of two neurological disorders, familial hemiplegic migraine and rapid-onset dystonia-parkinsonism, recently shown to be caused by mutations in the Na+,K+-ATPase. Udgivelsesdato: may 19...

  3. 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)

  4. [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.

  5. 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, histopathologic...

  6. Nebraska's Families: Poverty Despite Work.

    Science.gov (United States)

    Lazere, Edward B.; Ostrom, Kristin Anderson

    The high poverty rate (13.8 percent) among Nebraska's children is cause for concern, since there is strong evidence that poverty can hinder development and adversely affect children's ability to become productive adults. It is commonly assumed that poor children live in families where parents could work but do not. Yet in Nebraska, of poor…

  7. IL2RG基因新突变致X-连锁重症联合免疫缺陷病二例及产前诊断研究%Mutation analyses and prenatal diagnosis in two families of X linked severe combined immunodeficiency caused by IL2RG gene novel mutation

    Institute of Scientific and Technical Information of China (English)

    孔祥东; 刘宁; 徐学聚; 吴庆华; 赵振华; 白巧玲; 孟静静

    2014-01-01

    2013 were collected.Eight exons comprising IL2RG open reading frame and their exon/intron boundaries were analyzed by bi-directional direct sequencing of polymerase chain reaction (PCR) products.Prenatal genetic diagnoses were performed by chorionic villus sampling after the genotypes of maternal probands were identified in family 1.Results Two mutations of IL2RG gene were identified in these two families.The c.361-363delGAG (p.E121del) mutation was identified in family 1.The c.510-511insGAACT (p.W173X) mutation appeared in family 2.The two mutations of c.361-363delGAG (p.E121del) and c.510-511insGAACT (p.W173X) were novel.The two novel mutations were absent in 100 normal controls.The pregnancy in family 1 continued and the infant showed no symptom of X-SCID at 1 year after birth.The aunt (Ⅱ-3) of proband in family 1 was not a carrier.The female fetus in family 1 had no mutation.Conclusions Two novel mutations of c.361-363delGAG(p.E121del) and c.510-511insGAACT (p.W173X) in IL2RG gene may be a major cause of disease in two families with X-SCID.And direct sequencing of IL2RG gene provides genetic counseling,prenatal diagnosis and carrier screening for families with X-SCID.

  8. 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

  9. 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

  10. 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

  11. 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

  12. Prosthetic replacement in elderly with femoral neck fracture of hemiplegic extremity%人工关节置换治疗老年人卒中后偏瘫侧股骨颈骨折

    Institute of Scientific and Technical Information of China (English)

    周伟; 倪江东; 贺学军; 易惠军

    2014-01-01

    Objective:To study the curative of prosthetic replacement in the elderly with femoral neck fracture of the hemiplegic ex -tremity.Methods:From June 2010 to June 2012,37 cases of the femoral neck fracture (Garden typeⅢand typeⅣ) of the hemiplegic ex-tremity were treated by prosthetic replacement .All the cases were followed up , the follow-up time was from 10 months to 34 months, av-eraging 20 months.The curative effects were evaluated by harris hip score .The harris hip scores before and after operation was observed , at the same time, according to its content was divided into pain , function, degree of motion, limb deformities four aspects to rate respec-tively.Resulst :The average harris hip score improved from 14.61 ±6.51 point preoperatively to 81.13 ±8.76 point at the last follow -up.Patients with postoperative scores were significantly higher than the former , and pain, function, degree of motion, limb deformities preoperative postoperative evaluation of the project were significant difference .Conclusion:Prosthetic replacement in the treatment of the elderly with femoral neck fracture of the hemiplegic extremity might be safe and effective method .%目的:观察和分析人工关节置换治疗脑卒中患者偏瘫侧股骨颈骨折的疗效和方法。方法:自2010年6月~2012年6月,我院采用人工关节置换术治疗老年人脑卒中患者偏瘫侧股骨颈骨折 GardenⅢ、Ⅳ型37例,随访10个月-34个月,平均20个月,观察手术前后harris评分,同时按其内容分为疼痛、功能、关节活动度、肢体畸形四方面分别进行评分。结果:患者harris评分由术前的(14.61±6.51)分恢复到术后末次随访时的(81.13±8.76)分。患者术后评分明显高于前者,而且疼痛、功能、关节活动度、肢体畸形各项目术前术后评定均差异显著。结论:人工关节置换治疗老年人卒中后偏瘫侧股骨颈骨折是安全有效的方法,在缓解疼痛

  13. 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).

  14. 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

  15. [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…

  16. [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…

  17. Family and family therapy in Russia.

    Science.gov (United States)

    Bebtschuk, Marina; Smirnova, Daria; Khayretdinov, Oleg

    2012-04-01

    This article represents the information about family and family therapy in the context of culture, traditions and contemporary changes of social situations in Russia. The legislation of family rights are mentioned within items about marriage and family in the Constitution, Civil Code and Family Code of the Russian Federation which has changed during recent years. The definition of family and description of family structure are given through the prism of the current demographic situation, dynamics of statistics of marriage and divorce rates, mental disorders, disabilities and such phenomena as social abandonment. The actual curriculum, teaching of family therapy and its disadvantages, system of continuous education, supervision and initiatives of the Institute of Integrative Family Therapy in improvement of preparing of specialists who can provide qualified psychosocial assistance for the family according to the actual needs of society are noted. The directions of state and private practice of family counselling and therapy both for psychiatric patients and medical patients, for adults and children in a family systemic approach are highlighted with an indication of the spectrum of techniques and methods used by Russian professionals. The main obstacles and perspectives of development of family therapy in Russia are summarized.

  18. 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…

  19. 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。

  20. 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.

  1. 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

  2. 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

  3. 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.

  4. New Ways of Life, Thinking, Cause Distress in Modern Families

    Institute of Scientific and Technical Information of China (English)

    1994-01-01

    THE social news that has appeared in the media comes in all forms. Some people regard an increase in the number of divorce cases brought by omen as a sign that society has advanced. Others look at the activity of selecting "model husbands" as a trend that women are prospering, while the age of male dominance is in decline. Some say that the "single child" is an expedient measure for the state population policy, while in reality, the state has reached its goal of "fewer births, but excellent child-rearing and

  5. 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.

  6. Mutations in ANKH cause chondrocalcinosis.

    Science.gov (United States)

    Pendleton, Adrian; Johnson, Michelle D; Hughes, Anne; Gurley, Kyle A; Ho, Andrew M; Doherty, Michael; Dixey, Josh; Gillet, Pierre; Loeuille, Damien; McGrath, Rodney; Reginato, Antonio; Shiang, Rita; Wright, Gary; Netter, Patrick; Williams, Charlene; Kingsley, David M

    2002-10-01

    Chondrocalcinosis (CC) is a common cause of joint pain and arthritis that is caused by the deposition of calcium-containing crystals within articular cartilage. Although most cases are sporadic, rare familial forms have been linked to human chromosomes 8 (CCAL1) or 5p (CCAL2) (Baldwin et al. 1995; Hughes et al. 1995; Andrew et al. 1999). Here, we show that two previously described families with CCAL2 have mutations in the human homolog of the mouse progressive ankylosis gene (ANKH). One of the human mutations results in the substitution of a highly conserved amino acid residue within a predicted transmembrane segment. The other creates a new ATG start site that adds four additional residues to the ANKH protein. Both mutations segregate completely with disease status and are not found in control subjects. In addition, 1 of 95 U.K. patients with sporadic CC showed a deletion of a single codon in the ANKH gene. The same change was found in a sister who had bilateral knee replacement for osteoarthritis. Each of the three human mutations was reconstructed in a full-length ANK expression construct previously shown to regulate pyrophosphate levels in cultured cells in vitro. All three of the human mutations showed significantly more activity than a previously described nonsense mutation that causes severe hydroxyapatite mineral deposition and widespread joint ankylosis in mice. These results suggest that small sequence changes in ANKH are one cause of CC and joint disease in humans. Increased ANK activity may explain the different types of crystals commonly deposited in human CCAL2 families and mutant mice and may provide a useful pharmacological target for treating some forms of human CC.

  7. Familial tularaemia

    Directory of Open Access Journals (Sweden)

    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.

  8. 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 ...

  9. Improving Family Communications

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Listen Español Text Size Email Print Share Improving Family Communications Page Content Article Body How can I ...

  10. 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 ...

  11. Families in the Military

    Science.gov (United States)

    ... Families Guide - Search Spanish Facts for Families Guide Military Families No. 88; updated March 2017 Global conflict ... have led to deployment of large numbers of military personnel (active duty, Reserves, National Guard). As a ...

  12. 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.

  13. Scattered Families : Transnational family life of Afghan refugees in the Netherlands in the light of the human rights based protection of the family

    NARCIS (Netherlands)

    Muller, P.H.A.M

    2009-01-01

    This study focuses on family life of Afghan refugees in the Netherlands, within and across borders. While family life constitutes a foundation in the lives of human beings, the disruption of the family through external causes has a huge impact on the people involved. In the case of refugees, many of

  14. 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...

  15. Trichophyton tonsurans in a family microepidemic.

    Science.gov (United States)

    Salci, Tânia Pereira; Salci, Maria Aparecida; Marcon, Sonia Silva; Salineiro, Paulo Hércules Biagi; Svidzinski, Terezinha Inez Estivalet

    2011-01-01

    Trichophyton tonsurans is a highly transmissible anthropophilic dermatophyte fungus, which invades keratinized tissues. This study reports a case of family microepidemic caused by this dermatophyte. Despite their excellent hygiene conditions, it remained active for several years, spreading to all family members. The hypothesis that the fungus was being kept alive in the family home was confirmed after samples collected from it were analyzed. Pure cultures of the fungus were isolated and identified. After diagnosis, the house was disinfected with concomitant oral treatment for all family members.

  16. 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.

  17. Analysis of the clinical application of WHOQOL-BREF in hemiplegic patients caused by stroke%WHOQOL-BREF在脑卒中偏瘫患者中的应用

    Institute of Scientific and Technical Information of China (English)

    陆敏; 彭军; 尤春景; 黄晓琳; 郭铁成

    2004-01-01

    目的应用WHOQOL-BREF研究脑卒中偏瘫患者不同时期生存质量的变化以及康复治疗对生存质量的影响.;方法;50例急性脑卒中患者被随机分为康复组和对照组,每组各25例,两组患者均接受药物治疗,康复组同时进行以运动训练为主的康复治疗.采用WHOQOL-BREF量表和生存质量主观感受评分分别于病程1,3和6个月对患者进行评估.;结果康复组病程3个月、6个月与对照组病程6个月时,WHOQOL-BREF在生理、心理和环境领域评分均显著高于同组病程1个月时(P<0.05),这3个领域评分在康复组病程3个月和6个月时均显著高于同期对照组(P<0.05).康复组病程6个月时主观感受评分显著高于同组病程1个月时(P<0.05),与对照组同期比较,差异也有显著性意义(P<0.05).;结论临床上应用WHOQOL-BREF可反映脑卒中偏瘫患者不同时期生存质量的变化,同时证明康复治疗有利于改善患者的生存质量.

  18. Family doctors' involvement with families in Estonia

    Directory of Open Access Journals (Sweden)

    Lember Margus

    2004-10-01

    Full Text Available Abstract Background Family doctors should care for individuals in the context of their family. Family has a powerful influence on health and illness and family interventions have been shown to improve health outcomes for a variety of health problems. The aim of the study was to investigate the Estonian family doctors' (FD attitudes to the patients' family-related issues in their work: to explore the degree of FDs involvement in family matters, their preparedness for management of family-related issues and their self-assessment of the ability to manage different family-related problems. Methods A random sample (n = 236 of all FDs in Estonia was investigated using a postal questionnaire. Altogether 151 FDs responded to the questionnaire (response rate 64%, while five of them were excluded as they did not actually work as FDs. Results Of the respondents, 90% thought that in managing the health problems of patients FDs should communicate and cooperate with family members. Although most of the family doctors agreed that modifying of the health damaging risk factors (smoking, alcohol and drug abuse of their patients and families is their task, one third of them felt that dealing with these problems is ineffective, or perceived themselves as poorly prepared or having too little time for such activities. Of the respondents, 58% (n = 83 were of the opinion that they could modify also relationship problems. Conclusions Estonian family doctors are favourably disposed to involvement in family-related problems, however, they need some additional training, especially in the field of relationship management.

  19. 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.

  20. 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

  1. 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

  2. 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.

  3. 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.

  4. 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.

  5. Family therapy in the treatment of adolescents.

    Science.gov (United States)

    Matorin, S; Greenberg, L

    1992-06-01

    A family with an adolescent must transform itself from a predominantly nurturant unit to one that can tolerate and encourage the adolescent's need to separate. When an adolescent presents with symptoms that disrupt the developmental process, the clinician who is familiar with several models of family therapy is better able to select a therapeutic and cost-effective intervention. For family assessments, the authors recommend a biopsychosocial approach, which has replaced the outdated view that families cause psychiatric problems and which acknowledges the family as a potential source of healing. The authors describe several models of family therapy--Satir's communication model, the structural model of Minuchin, Bowen's cross-generational model, and psycho-education--and examine features of these approaches useful for working with adolescents. Illustrative vignettes and some guiding principles for matching model and problem are offered.

  6. Family stressors as predictors of codependency.

    Science.gov (United States)

    Fuller, J A; Warner, R M

    2000-02-01

    Codependency has been defined as an extreme focus on relationships, caused by a stressful family background (J. L. Fischer, L. Spann, & D. W. Crawford, 1991). In this study the authors assessed the relationship of the Spann-Fischer Codependency Scale (J. L. Fischer et al., 1991) and the Potter-Efron Codependency Assessment (L. A. Potter-Efron & P. S. Potter-Efron, 1989) with self-reported chronic family stress and family background. Students (N = 257) completed 2 existing self-report codependency measures and provided family background information. Results indicated that women had higher codependency scores than men on the Spann-Fischer scale. Students with a history of chronic family stress (with an alcoholic, mentally ill, or physically ill parent) had significantly higher codependency scores on both scales. The findings suggest that other types of family stressors, not solely alcoholism, may be predictors of codependency.

  7. 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

  8. 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…

  9. 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

  10. 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

  11. The Changing Family in a Changing World: America First?

    Science.gov (United States)

    Bronfenbrenner, Urie

    1984-01-01

    The American family has experienced rapid and radical changes since World War II. The effects and possible causes of the increase in the number of single-parent families, entry of mothers into the labor force, and rise in number of families at the poverty level are explored. Implications for changes in policy and practice are discussed. (DF)

  12. What Causes Thyroid Cancer?

    Science.gov (United States)

    ... Cancer Causes, Risk Factors, and Prevention What Causes Thyroid Cancer? Thyroid cancer is linked with a number of ... inside a cell, without an outside cause. Papillary thyroid cancer Several DNA mutations (changes) have been found in ...

  13. OPA1基因G401D突变导致常染色体视神经萎缩和听力受损%The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    柯铁; 聂尚武; 杨琴波; 刘剑萍; 周琳娜; 任翔; 刘静宇; 王擎; 刘木根

    2006-01-01

    Objective To describe the clinical and genetic characteristics of a Chinese family affected with optic atrophy 1 (OPA1). Methods Linkage analysis and DNA sequencing as well as PCR/restriction fragment length polymorphism (RFLP) analysis were performed to identify the disease-causing mutation. Results A missense mutation, G401D in the OPA1 gene was identified, and the patients demonstrate inherited syndrome of optic atrophy and hearing loss. Conclusion The present study demonstrates that a mutation in the OPA1 gene can cause optic atrophy in Chinese patients, and supports the notion that OPA1 mutation may lead to OPA1 combined with hearing loss.%目的 对一个中国视神经萎缩1(optic atrophy 1, OPA1)家系进行临床和基因分析. 方法 对家系进行连锁分析,通过测序和限制性片段长度多态鉴定致病基因突变. 结果 在家系患者中均发现OPA1基因的一个错义突变1202(G→A),即G401D, 而且患者呈现出视神经萎缩以及听力受损的综合征症状.结论 在中国OPA1患者中鉴定了OPA1基因突变,并支持OPA1基因突变可导致伴随有听力受损的视神经萎缩.

  14. 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.

  15. UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands.

    Science.gov (United States)

    van Doormaal, Perry T C; van Rheenen, Wouter; van Blitterswijk, Marka; Schellevis, Raymond D; Schelhaas, Helenius J; de Visser, Marianne; van der Kooi, Anneke J; Veldink, Jan H; van den Berg, Leonard H

    2012-09-01

    Recently it was discovered that mutations in the UBQLN2 gene were a cause of an X-linked dominant type of familial amyotrophic lateral sclerosis (ALS). We investigated the frequency of mutations in this gene in a cohort of 92 families with ALS in the Netherlands. Eight families were excluded because of male-to-male transmission. In the remaining 84 familial ALS cases no mutations were discovered in UBQLN2. Hence, UBQLN2 was not found to be a cause of familial ALS in the Netherlands.

  16. 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.

  17. Familial amyloid polyneuropathy.

    Science.gov (United States)

    Planté-Bordeneuve, Violaine; Said, Gerard

    2011-12-01

    Familial amyloid polyneuropathies (FAPs) are a group of life-threatening multisystem disorders transmitted as an autosomal dominant trait. Nerve lesions are induced by deposits of amyloid fibrils, most commonly due to mutated transthyretin (TTR). Less often the precursor of amyloidosis is mutant apolipoprotein A-1 or gelsolin. The first identified cause of FAP-the TTR Val30Met mutation-is still the most common of more than 100 amyloidogenic point mutations identified worldwide. The penetrance and age at onset of FAP among people carrying the same mutation vary between countries. The symptomatology and clinical course of FAP can be highly variable. TTR FAP typically causes a nerve length-dependent polyneuropathy that starts in the feet with loss of temperature and pain sensations, along with life-threatening autonomic dysfunction leading to cachexia and death within 10 years on average. TTR is synthesised mainly in the liver, and liver transplantation seems to have a favourable effect on the course of neuropathy, but not on cardiac or eye lesions. Oral administration of tafamidis meglumine, which prevents misfolding and deposition of mutated TTR, is under evaluation in patients with TTR FAP. In future, patients with FAP might benefit from gene therapy; however, genetic counselling is recommended for the prevention of all types of FAP.

  18. 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...

  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. 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.

  1. 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).

  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. 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

  4. Effectiveness of nursing interventions based on family needs on family satisfaction in the neurosurgery intensive care unit

    OpenAIRE

    Yousefi, Hojatollah; Afsaneh KARAMI; Moeini, Mahin; Ganji, Hamid

    2012-01-01

    Background: Since the family is a social system, the impairment in each of its component members may disrupt the entire family system. One of the stress sources for families is accidents leading to hospitalization particularly in the intensive care unit (ICU). In many cases, the families’ needs in patient care are not met that cause dissatisfaction. Since the nurses spend a lot of time with patients and their families, they are in a good position to assess their needs and perform appropriate ...

  5. A conceptual model of psychosomatic illness in children. Family organization and family therapy.

    Science.gov (United States)

    Minuchin, S; Baker, L; Rosman, B L; Liebman, R; Milman, L; Todd, T C

    1975-08-01

    Linear and open systems (multiple feedback) models of psychosomatic illness in children are contrasted in terms of their implications for cause and treatment. An open systems family model is presented that describes three necessary (but not independently sufficient) conditions for the development and maintenance of severe psychosomatic problems in children: (1) a certain type of family organization that encourages somatization; (2) involvement of the child in parental conflict; and (3) physiological vulnerability. Predisposition for psychosomatic illness, symptom choice, and maintenance are discussed within this conceptual framework. We report on family therapy strategies based on this model and the results of family treatment with 48 cases of "brittle" diabetes, psychosomatic asthma, and anorexia nervosa.

  6. 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

  7. Effects of dynamic postural balance training on balance function of hemiplegic stroke patients%动态姿态平衡仪训练对脑卒中偏瘫患者平衡功能的影响

    Institute of Scientific and Technical Information of China (English)

    黄小静; 窦祖林; 丘卫红; 付奕; 廖迪

    2011-01-01

    Method: Twenty hemiplegic stroke patients were recruited into the study and then randomly divided into the control group (n=10) and the training group (n=10). Conventional balance training was used in the control group; while visual feedback balance training with Smart-EquiTest System was employed in the training group. Both groups were trained 5d per week, for 2 weeks. Quantitative balance functions were evaluated using the sensory organization test(SOT) with Smart-EquiTest System, the Berg balance scale(BBS) and timed up & go test(TUGT) before training as well as 2 weeks after completing the training program.Result: Both groups revealed improvements in SOT, BBS and TUGT after 2-week training, and patients in the training group gained more improvements compared with the control group(P<0.05); In the training group, the scoring of the equilibrium index and exercise strategy in eye closed, sway referenced support(ECSS) and Sway-referenced vision(SVSS) of SOT improved significantly after training, with P<0.05 separately. On the other hand, no obvious difference was found in the equilibrium index in eye open(EO), eye closed(EC), sway-referenced vision (SV) and eye open, sway referenced support(EOSS) of SOT between the training group and the control group.Conclusion: Visual feedback balance training with Smart-EquiTest System is significantly more effective than conventional training to improve balance function of hemiplegic stroke patients. Author's address Dept. of Rehabilitation Medicine, Zhujiang Hospital, Guangzhou, 510282%目的:探讨使用动态姿态平衡仪对脑卒中后偏瘫患者进行平衡功能训练的效果.方法:选取20例符合入选标准的脑卒中患者,随机分为治疗组(n=10)和对照组(n=10).对照组进行传统的平衡功能训练,30min/d;治疗组根据动态姿态平衡仪评估结果采用内置的训练方案进行平衡功能训练,20min/d.两组训练时间均为5d/周,共2周.在治疗前和治疗2周后分别采用

  8. 运动反馈训练对脑卒中后偏瘫上肢痉挛状态的影响%Effects of motional feedback training on spasticity of hemiplegic upper limb in patients with stroke

    Institute of Scientific and Technical Information of China (English)

    万新炉; 叶正茂; 潘翠环; 沈怡

    2013-01-01

    Objective:To investigate the effects of motional feedback training on spasticity of hemiplegic upper limb after stroke. Methods:Forty-three stroke patients with hemiplegia were randomly assigned into two groups receiving motional feedback training and routine rehabilitation therapy,or only normal rehabilitation therapy respectively. Clinical assessments including E-Link Evaluation system (EES) and Modified Ashworth Scale (MAS) were performed before and 4 weeks after treatment. Results: After treatment for two weeks,elbow and forearm rotation degrees,and pronation of the forearm muscular tension were significantly increased as compared with those before treatment, more significantly in experimental group than in control group (P<0. 05). At 4th week after the treatment,the muscular tension of the forearm in experimental group was significantly reduced as compared with control group (P< 0. 05). Conclusion:Motional feedback system to provide entertaining and educational rehabilitation method can improve the training fun and enthusiasm. Motional feedback training can significantly alleviate spasticity of the hemiplegic upper limb due to stroke.%目的:观察运动反馈训练对脑卒中后偏瘫上肢痉挛状态的影响.方法:脑卒中偏瘫患者43例随机分为观察组21例和对照组22例,2组患者均按常规的物理治疗和作业治疗,观察组在此基础上接受运动反馈训练.治疗前后采用E-LINK评估系统评定肘关节屈伸活动度及前臂旋转活动度,并采用改良Ashworth分级评定屈肘肌群及前臂旋前肌群肌张力.结果:治疗4周后,2组患者的肘关节屈伸活动度、前臂旋转活动度均较治疗前明显增加(P<0.05),且观察组更高于对照组(P<0.05);屈肘肌群、前臂旋前肌群肌张力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).结论:运动反馈系统提供的寓教于乐的康复方法能提高训练的趣味性、积极性,对脑卒中后偏瘫上肢

  9. 液电式体外冲击波治疗偏瘫肩痛%Treatment of hemiplegic shoulder pain with liquid-electric extracorporeal shock wave combined with therapeutic exercises

    Institute of Scientific and Technical Information of China (English)

    魏智钧; 欧阳颀; 李华; 侯艳丽; 张秋芬

    2014-01-01

    观察液电式体外冲击波治疗偏瘫肩痛(HSP)的疗效。方法脑卒中患者70例随机分为对照组(n=35)和观察组(n=35),两组患者进行运动疗法治疗,观察组同时对 HSP 肩关节进行体外液电式冲击波治疗。结果治疗4周后,观察组的治愈率为60.0%(21/35),总有效率为91.4%(33/35),对照组的治愈率为34.3%(12/35),总有效率为71.4%(25/35),两组比较差异有统计学意义(P <0.05)。两组治疗后与治疗前比较疼痛视觉模拟(VAS)评分及上肢运动功能(Fugl-Meyer)评分均有显著改善,分别为(5.91±1.70)分 vs (3.49±1.99)分、(5.80±1.47)分 vs (4.69±1.67)分 vs (24.86±9.08)分 vs (46.47±9.91)分、(26.91±9.70)分 vs (31.09±10.07)分,且观察组明显优于对照组(均P<0.01)。结论液电式体外冲击波是一种可供选择的治疗 HSP的较好方法。%Objective To observe the clinical efficacy of liquid-electric extracorporeal shock wave (ESW) combined with therapeutic exercise in treating hemiplegic shoulder pain.Methods Seventy patients with stroke were randomly divided into control group and observation group,the control group received therapeutic exercise,the observation group was used by liquid-electric ESW combined with therapeutic exercise,then,the clinical efficiency of two groups were evaluated before and after treatment by effective rate,visual analogue scale (VAS),Fugl-Meyer Assessment(FMA).Results After treatment of four weeks,the cure rate and the effective rate in the observation group were 60.0%(21/35),91.4%(33/35),while those in the control group were 34.3%(12/35),71.4%(25/35) (both P <0.05 );Before and after treatment,the VAS and FMA of observation group and control group were respectively (5.91±1.70)marks vs (5.80±1.47)marks,(3.49±1.99)marks vs (4.69±1.67)marks;(24.86± 9.08)marks vs (26.91 ± 9.70)marks,(46.47 ± 9.91)marks vs (31.09 ± 10.07)marks.The two groups had significantly improved after treatment in the VAS and Fugl

  10. 音乐干预对脑卒中偏瘫患者焦虑情绪的影响%Effect of music intervention on anxiety in stroke hemiplegic patients

    Institute of Scientific and Technical Information of China (English)

    林家谊; 张冬琼

    2012-01-01

    目的 探讨音乐干预对脑卒中偏瘫患者焦虑情绪的影响.方法 将110例焦虑状态的脑卒中偏瘫患者随机分为实验组和对照组各55例.对照组采用药物、康复治疗及常规护理,实验组在对照组基础上,采用音乐干预及康复训练依从性指导.于干预前及干预14 d后采用焦虑自评量表(self rating anxiety scale,SAS)进行测评,并观察两组患者治疗依从性情况.结果 干预前两组患者SAS得分比较,P> 0.05,差异无统计学意义;干预后两组患者SAS得分比较,P<0.001,差异具有统计学意义,实验组患者得分明显低于对照组;两组患者治疗依从性比较,均P< 0.05,差异具有统计学意义,实验组患者治疗依从性明显高于对照组.结论 音乐干预配合治疗依从性指导,可明显改善脑卒中偏瘫患者焦虑心理状态,提高患者治疗依从性,从而促进患者康复.%Objective To observe the effect of music intervention on anxiety in stroke hemiplegic patients. Methods 110 hemiplegic patients with anxiety were randomly divided into two groups in equal number;the control group treated with medicine, rehabilitation care and routine care and the treatment group treated with music intervention as well as treatment compliance instructions of rehabilitation training. The self rating anxiety scale (SAS) was used in both groups to measure the anxiety levels before treatment and after 14 days. The treatment compliance was observed and compared between the two groups. Results The difference in SAS scores was insignificant between the groups before the music intervention (P > 0.05), but the treatment group was significantly lower in the SAS scores than the control group after the intervention (P < 0.001). The treatment compliance in the treatment group was significantly better than that of control group. Conclusion Music intervention with instruction on treatment compliance may obviously lower the degree of anxiety, promote the

  11. 半导体激光合并运动疗法治疗偏瘫肩痛临床研究%Diode laser combined with exercise therapy in the treatment of hemiplegic omalgia

    Institute of Scientific and Technical Information of China (English)

    杜丽; 雷飚

    2012-01-01

    Objective:To observe the clinical efficacy on the hemiplegic omalgia treated by diode laser combined with exercise therapy. Methods: From March 2006 to June 2010,106 patients with hcmiplegic omalgia were treated in our department. They were randomly divided into treatment group and control group. The treatment group, 59 cases were treated by diode laser. Combined with exercise therapy and the control group, 47 cases were treated by medium freguency electrotherapy combined with exercise therapy. The course of treatraent for the two groups both were 2 - 3 mouths. Results: In treatment group, the cure rate was 64.41%, the total efficient was 98.31%, and in control group, the cure rate was 25.53 %, the total efficient was 93.62%. The cure rates was very significant difference between the two groups (P 〈 0.01 ), but the total effective rates between the two groups were no significant difference (P 〉 0. 05 ). Conclusions: The efficient rates of the two groups are basically sameness. Semiconductor laser therapy combined hemiplegic shoulder movement is a more effective clinical treatment%目的:观察半导体激光合并运动疗法治疗偏瘫肩痛的临床疗效。方法:我科于2006年3月至2010年6月期间治疗的脑中风偏瘫患者共106例,研究半导体激光治疗偏瘫肩痛的临床疗效。病例随机分为治疗组和对照组,治疗组59例采用半导体激光合并运动疗法治疗:对照组47例采用中频电疗合并运动疗法治疗,治疗2至3个疗程后观察比较两组疗效。结果:治疗结果显示治疗组治愈率64.41%,总有效率98.31%;对照组治愈率25.53%,总有效率93.62%,两组结果经统计学处理,治愈率有非常显著性差异(P〈0.01),总有效率无显著性差异(P〉0.05)。结论:研究提示,半导体激光合并运动疗法治疗偏瘫肩痛是一种较有效的临床治疗措施。

  12. 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.

  13. Family Caregiver Alliance

    Science.gov (United States)

    ... on your schedule. Look for our launch soon! FAMILY CARE NAVIGATOR ─ Click on Your State AL AK ... Group) Smart Patients Caregivers Community In partnership with Family Caregiver Alliance Learn more Caregiver Research Caregivers exhibit ...

  14. 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...

  15. 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 ...

  16. Importance of Family Routines

    Science.gov (United States)

    ... Structure Your Child's Nighttime Routine . Weekends: Weekends are good times for family togetherness. You might go grocery shopping as a family, visit museums and zoos, do chores​ that everyone participates in, go on ...

  17. MSUD Family Support Group

    Science.gov (United States)

    ... Group The MSUD Family Support Group is a non-profit 501 (c)(3) organization for those with MSUD ... Family Support Group is a 501(c)(3) non-profit organization with no paid staff. Funds are needed ...

  18. 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......Families of mutually dependent classes that may be accessed polymor- phically provide an advanced tool for separation of concerns, in that it enables client code to use a group of instances of related classes safely without depending on the exact classes involved. However, class families which...... 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....

  19. 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.

  20. 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.