WorldWideScience

Sample records for causing familial hemiplegic

  1. Genetics Home Reference: familial hemiplegic migraine

    Science.gov (United States)

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

  2. 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....

  3. 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....

  4. Familial Hemiplegic Migraine and Spreading Depression

    OpenAIRE

    Kazemi, Hadi; Erwin Josef SPECKMANN; Gorji, Ali

    2014-01-01

    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. R...

  5. 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

  6. Transcranial Doppler sonography in familial hemiplegic migraine

    International Nuclear Information System (INIS)

    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

  7. 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.

  8. Familial hemiplegic migraine type 1 associated with parkinsonism

    DEFF Research Database (Denmark)

    Bruun, Marie; Hjermind, Lena Elisabeth; Thomsen, Carsten; Danielsen, Else; Thomsen, Lise Lykke; Pinborg, Lars Hageman; Khabbazbavani, Nastaran; Nielsen, Joergen Erik

    2015-01-01

    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...

  9. 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.

  10. 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.

  11. 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.)

  12. Serial MRI in a case of familial hemiplegic migraine

    International Nuclear Information System (INIS)

    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. Divergent sodium channel defects in familial hemiplegic migraine

    OpenAIRE

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

    2008-01-01

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

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

    OpenAIRE

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

    2009-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Dania eVecchia

    2015-02-01

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

  16. Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1

    OpenAIRE

    Eikermann-Haerter, Katharina; Dileköz, Ergin; Kudo, Chiho; Savitz, Sean I.; Waeber, Christian; Baum, Michael J.; Ferrari, Michel D.; van den Maagdenberg, Arn M. J. M.; Moskowitz, Michael A.; Ayata, Cenk

    2008-01-01

    Familial hemiplegic migraine type 1 (FHM1) is an autosomal dominant subtype of migraine with aura that is associated with hemiparesis. As with other types of migraine, it affects women more frequently than men. FHM1 is caused by mutations in the CACNA1A gene, which encodes the α1A subunit of Cav2.1 channels; the R192Q mutation in CACNA1A causes a mild form of FHM1, whereas the S218L mutation causes a sev...

  17. 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; de Pasqua, V; Ashina, M; Thomsen, L L; Olesen, J; Schoenen, J

    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...... 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...

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

    DEFF Research Database (Denmark)

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

    2008-01-01

    Familial hemiplegic migraine type 1 (FHM-1) is a dominantly inherited subtype of migraine with aura and transient hemiplegia associated with mutations in the CACNA1A gene. FHM-1 shares many phenotypical similarities with common types of migraine, indicating common neurobiological pathways.......01). In the 14 h following GTN infusion, there was no difference in the AUC(headache) between patients and controls (P = 0.17). We found no difference in the AUC(VmeanMCA) (P = 0.12) or AUC(STA) (P = 0.71) between FHM-1 patients and controls. None of the control persons reported migraine-like headache...

  1. 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.

  2. 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.

  3. 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...

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

    Science.gov (United States)

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

    2016-01-01

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

  5. 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...... 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...... treatment, these cases underscore the importance of an accurate headache history, especially in younger patients....

  6. 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.

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

    NARCIS (Netherlands)

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

    2014-01-01

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

  8. MRI findings in the painful hemiplegic shoulder

    International Nuclear Information System (INIS)

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

  9. 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.

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

    Science.gov (United States)

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

    2015-01-01

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

  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; Lassen, N A

    cerebral vessels (arterioles) alternating with a normal calibre for these vessels and/or short periods of vasodilatation. It isconsidered to be a primary pathological condition of the vessels. When vasoconstriction was present the blood flow decreased to values consistent with ischaemia, which was probably......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...... patients developed transient motor and/or sensory deficits and subsequently severe headache. No signs of arterial occlusion were found. In the over and underperfused regions blood flow fluctuated rapidly because of instability of cerebrovascular tone, defined as transient constriction of the smallest...

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

    OpenAIRE

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

    2012-01-01

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

  13. Genetics Home Reference: sporadic hemiplegic migraine

    Science.gov (United States)

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

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

    OpenAIRE

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

    2014-01-01

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

  15. CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.

    Science.gov (United States)

    de Vries, B; Stam, A H; Beker, F; van den Maagdenberg, A M J M; Vanmolkot, K R J; Laan, Laem; Ginjaar, I B; Frants, R R; Lauffer, H; Haan, J; Haas, J P; Terwindt, G M; Ferrari, M D

    2008-08-01

    Familial hemiplegic migraine (FHM) and alternating hemiplegia of childhood (AHC) are severe neurological disorders that share clinical features. Therefore, FHM genes are candidates for AHC. We performed mutation analysis in the CACNA1A gene in a monozygotic twin pair with clinical features overlapping with both AHC and FHM and identified a novel de novo CACNA1A mutation. We provide the first evidence that a CACNA1A mutation can cause atypical AHC, indicating an overlap of molecular mechanisms causing AHC and FHM. These results also suggest that CACNA1A mutation scanning is indicated in patients with a severe neurological phenotype that includes paroxysmal (alternating) hemiplegia. PMID:18498393

  16. Causes of death in familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Galle, T S; Juel, K; Bülow, S

    1999-01-01

    The prognosis in familial adenomatous polyposis (FAP) has improved over the past decades owing to a reduction in the prevalence of colorectal cancer, resulting from effective early screening. During the same period several polyposis registers have recorded an increasing number of deaths due to du...... 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....

  17. 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.

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

    Science.gov (United States)

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

    2016-09-01

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

  19. Study of reaction time in hemiplegics.

    OpenAIRE

    Malathi A; Parulkar V

    1989-01-01

    Visual reaction time and auditory reaction time (VRT and ART) were measured in 25 right hemiplegics and 25 left hemiplegics in the age group of 40-60 years. There was a significant prolongation of VRT and ART in both the right and left hemiplegics as compared to normals of the same age group. ART following mono-aural stimulation i.e. sound input into the right and left ear separately, was also studied in the subjects. Mono-aural stimulation revealed a prolongation of the ART on contralateral ...

  20. 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.

  1. 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…

  2. 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.

  3. 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.)

  4. Perfusion-weighted MR imaging in persistent hemiplegic migraine

    International Nuclear Information System (INIS)

    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.)

  5. 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. PMID:24836863

  6. Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature.

    Science.gov (United States)

    Mohammad, Shekeeb S; Coman, David; Calvert, Sophie

    2014-12-01

    Glucose transporter 1 deficiency syndrome (OMIM 606777) is a treatable epileptic encephalopathy caused by mutations in the SLC2A1 gene (OMIM 138140) causing impaired glucose transport into the brain. The classical phenotype is associated with seizures, developmental delay, ataxia and spasticity; however, milder phenotypes are emerging. We describe an 8-year-old boy with glucose transporter 1 deficiency syndrome whose clinical presentation was dominated by hemiplegic migraines that resolved with institution of a modified Atkins diet. PMID:25440161

  7. 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...... 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...

  8. [Psychic reality of hemiplegic patients during rehabilitation].

    Science.gov (United States)

    Casale, R; Maiani, G

    1982-01-01

    The authors face psychological problems of the hemiplegic patient through a free re-elaboration of Sacks' and coll.'s Test of Sentences to be Completed with the purpose of pointing out psychosocial and depressive dynamics which can interfere with rehabilitation processes as well as with the re-learning of adaptation motorial successions. Attained results appear to confirm a strict relation among hemiplegia, withdrawal from parenthetical social relation and development of depressive dynamics; they also suggest the opportunity of a systematic deepening of the research. PMID:7089431

  9. Effects of Balance Training on Hemiplegic Stroke Patients

    OpenAIRE

    I-Chun Chen; Pao-Tsai Cheng; Chia-Ling Chen; Shih-Ching Chen; Chia-Ying Chung; Tu-Hsueh Yeh

    2002-01-01

    Background: The purpose of this study was to evaluate the delayed effects of balancetraining program on hemiplegic stroke patients.Methods: A total of 41 ambulatory hemiplegic stroke patients were recruited into thisstudy and randomly assigned into two groups, the control group and trainedgroup. Visual feedback balance training with the SMART Balance Masterwas used in the trained group. Bruunstrom staging of affected limb scoresand Functional Independent Measure (FIM) scores of each patient w...

  10. 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.

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

    Science.gov (United States)

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

    2016-01-01

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

  12. 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.)

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

    International Nuclear Information System (INIS)

    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.)

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

    Science.gov (United States)

    Holdorff, Bernd

    2016-01-01

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

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

    NARCIS (Netherlands)

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

    2013-01-01

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

  16. NEW CONSUMPTION PATTERNS CAUSED BY CHANGES IN FAMILY COMPOSITION

    Directory of Open Access Journals (Sweden)

    Gílson de Lima Garófalo

    2014-12-01

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

  17. NEW CONSUMPTION PATTERNS CAUSED BY CHANGES IN FAMILY COMPOSITION

    OpenAIRE

    Gílson de Lima Garófalo; Patrícia Emídio dos Santos

    2014-01-01

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

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

    Science.gov (United States)

    Levin, Kate A; Kirby, Joanna

    2012-08-01

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

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

    OpenAIRE

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

    2001-01-01

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

  20. 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

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

    OpenAIRE

    Thomson, R B; Johnson, J K

    1986-01-01

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

  3. 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

    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...... nearest older sibling's place of birth had an independent effect; among persons who lived in a rural area during their first 15 years of life, the relative risk was 1.59 (95% confidence interval: 1.10, 2.30) if their nearest older sibling had been born in the capital area as compared with a rural area....... 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....

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

    Directory of Open Access Journals (Sweden)

    Anna Purna Basu

    2015-01-01

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

  5. 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

  6. Effects of Balance Training on Hemiplegic Stroke Patients

    Directory of Open Access Journals (Sweden)

    I-Chun Chen

    2002-09-01

    Full Text Available Background: The purpose of this study was to evaluate the delayed effects of balancetraining program on hemiplegic stroke patients.Methods: A total of 41 ambulatory hemiplegic stroke patients were recruited into thisstudy and randomly assigned into two groups, the control group and trainedgroup. Visual feedback balance training with the SMART Balance Masterwas used in the trained group. Bruunstrom staging of affected limb scoresand Functional Independent Measure (FIM scores of each patient wererecorded. Quantitative balance function was evaluated using the SMARTBalance Master. Data were collected before training and 6 months aftercompleting the training program.Results: Significant improvements in dynamic balance function measurements werefound for patients in the trained group at 6 months after completing the trainingprogram. The ability of self-care and sphincter control also improved forpatients in the trained group. On the other hand, no significant differenceswere found in static balance functions between the trained group and controlgroup at 6 months of follow up. The locomotion and mobility scoring ofFIM also revealed no differences between the groups.Conclusion: Dynamic balance function of patients in the visual feedback training grouphad significant improvements when compared with the control group.Activities of daily living (ADL function in self-care also had significantimprovements at 6 months of follow up in the trained group. The resultsshowed that balance training was beneficial for patients after hemiplegicstroke.

  7. 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

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

    Directory of Open Access Journals (Sweden)

    Alberto F.L.

    1999-01-01

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

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

    OpenAIRE

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

    2013-01-01

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

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

    OpenAIRE

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

    2016-01-01

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

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

    OpenAIRE

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

    2014-01-01

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

  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 T‐cell non‐Hodgkin lymphoma caused by biallelic MSH2 mutations

    OpenAIRE

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

    2007-01-01

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

  14. 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.

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

    Science.gov (United States)

    Yardimci, A; Asilkan, O

    2014-01-01

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

  16. 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....

  17. Computed tomographic findings of leg muscles in the hemiplegics due to cerebrovascular accidents

    International Nuclear Information System (INIS)

    The computed tomography (CT) scan was performed in 52 hemiplegics due to cerebrovascular accidents and 12 normal controls on the mid-portion of the thigh and the largest-diameter section of the calf. Muscle size and average CT density of the muscle were measured. The salient feature was hypertrophic gracilis muscle of the hemiplegic side. Other muscles were more atrophied with lower CT density compared with those of the contralateral side. The size of the quadriceps muscle was especially small. The ratio of the quadriceps to all the thigh muscles in cross section was significantly smaller in affected side of hemiplegics than that of normal controls. This was observed even in normal side of the hemiplegics but the ratios of adductor and flexor muscles of the thigh showed no difference. Hypertrophy of gracilis muscle with high CT density was observed only on hemiplegic side. Muscle atrophies were marked in non-ambulatory patients. The ratios of quadriceps and saltorius muscles of thigh in non-ambulatory patients were significantly smaller than those of ambulatory patients. It could not be detected that there is relationship of the sevirity of the muscle atrophy and parietal lobe dysfunction. This atrophy considered to be the result of disuse of the paralyzed leg and pyramidal tract dysfunction. (author)

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

    OpenAIRE

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

    1999-01-01

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

  19. 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

  20. 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.

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Science.gov (United States)

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

    2015-10-01

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

  3. 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)

  4. 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…

  5. The Effects of Shoulder Slings on Balance in Patients With Hemiplegic Stroke

    Science.gov (United States)

    Sohn, Min Kyun; Jee, Sung Ju; Hwang, Pyoungsik; Jeon, Yumi

    2015-01-01

    Objective To investigate the effects of a shoulder sling on balance in patients with hemiplegia. Methods Twenty-seven hemiplegic stroke patients (right 13, left 14) were enrolled in this study. The subjects' movement in their centers of gravity (COGs) during their static and dynamic balance tests was measured with their eyes open in each sling condition-without a sling, with Bobath's axillary support (Bobath sling), and with a simple arm sling. The percent times in quadrant, overall, anterior/posterior, and medial/lateral stability indexes were measured using a posturography platform (Biodex Balance System SD). Functional balance was evaluated using the Berg Balance Scale and the Trunk Impairment Scale. All balance tests were performed with each sling in random order. Results The COGs of right hemiplegic stroke patients and all hemiplegic stroke patients shifted to, respectively, the right and posterior quadrants during the static balance test without a sling (p<0.05). This weight asymmetry pattern did not improve with either the Bobath or the simple arm sling. There was no significant improvement in any stability index during either the static or the dynamic balance tests in any sling condition. Conclusion The right and posterior deviations of the hemiplegic stroke patients' COGs were maintained during the application of the shoulder slings, and there were no significant effects of the shoulder slings on the patients' balance in the standing still position. PMID:26798614

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

    Directory of Open Access Journals (Sweden)

    Rania E. Mohamed

    2014-12-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1995-12-01

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

  8. Cushing's Syndrome caused by pigmented adrenocortical micro nodular dysplasia - A familial case

    International Nuclear Information System (INIS)

    Introduction: We present a Case of Cushing's syndrome (CS) in a 16 year old male adolescent. Adrenocortical micro nodular dysplasia is a rare cause of CS. It mostly develops in the first two decades of life. In pathogenesis a stimulatory effect of circulating Immunoglobulins on adrenal steroidogenesis has been postulated. Familial cases have been reported in relation to Carney's Syndrome. We report the clinical case at first diagnosis and preoperative follow up of 1 year prior to treatment. The leading symptoms were severe bilateral (fibrotic) gynaecomastia, weight gain and growth retardation, without hypertension,but osteoporosis, secondary hypogonadism and glucose intolerance. Laboratory findings and the results of functional tests were diagnostic for CS. In addition LDH (I-131 Isotopes), CK, Lipoproteins, GPT, Androstendion, Prolactin were elevated. MRI abdomen revealed a slight enlargement of the adrenals, and suspected a bilateral micro nodular dysplasia. Iodo-cholesterol-scan under dexamethason suppression showed a diffuse bilateral Iodo-cholesterol uptake confirming the autonomous production of cortisol bilateral in the adrenals.Whole body bone scan showed a diffuse reduced diphosphonate uptake in the skeleton and the growth plates. The bone mineral density was significantly reduced.Radiologically osteoporosis was overt. The rapid increase of free urinary cortisol excretion/24h within one year of observation led to a total bilateral adrenalectomy. Postoperative 5 year follow up examinations. Documentation of the outcome and recovery of clinical signs,symptoms and laboratory findings, discussion about the most appropriate long-term substitution therapy. Familial anamnesis:affected family member was the father (micro nodular bilateral adrenocortical dysplasia), the aunt (pararenal incidentaloma, histologically lipoma) and a cousin (micro nodular adrenocortical dysplasia). Sequential analysis of the menin gene from the patient was negative.The detection of

  9. 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

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

    OpenAIRE

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

    2015-01-01

    [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. Pro...

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

    OpenAIRE

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

    2016-01-01

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

  12. Plantarflexor training affects propulsive force generation during gait in children with spastic hemiplegic cerebral palsy: a pilot study

    OpenAIRE

    Ishihara, Misako; Higuchi, Yumi; Yonetsu, Ryo; Kitajima, Hiromi

    2015-01-01

    [Purpose] The purpose of this preliminary study was to assess the trade-off relationship between the hip and ankle joints after plantarflexor training in children with spastic hemiplegic cerebral palsy (CP). [Subjects and Methods] Three boys aged 9, 10, and 13 years with spastic hemiplegic CP participated in the study. Gait analysis was performed using a three-dimensional motion analysis device and a floor reaction force detection device before and after plantarflexor training. Data on gait s...

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

    OpenAIRE

    Suvarna Ganvir; Shyam D.Ganvir

    2012-01-01

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

  14. A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis.

    Science.gov (United States)

    Sun, Yu-Min; Wang, Jun; Qiu, Xing-Biao; Yuan, Fang; Li, Ruo-Gu; Xu, Ying-Jia; Qu, Xin-Kai; Shi, Hong-Yu; Hou, Xu-Min; Huang, Ri-Tai; Xue, Song; Yang, Yi-Qing

    2016-01-01

    Congenital heart disease (CHD) is the most common developmental abnormality, and is the leading noninfectious cause of mortality in neonates. Increasing evidence demonstrates that genetic defects play an important role in the pathogenesis of CHD. However, CHD exhibits substantial heterogeneity, and the genetic determinants for CHD remain unknown in the overwhelming majority of cases. In the current study, the coding exons and flanking introns of the HAND2 gene, which encodes a basic helix-loop-helix transcription factor essential for normal cardiovascular development, were sequenced in 192 unrelated patients with CHD, and a novel heterozygous mutation, p.S65I, was identified in a patient with congenital ventricular septal defect (VSD). Genetic analysis of the index patient's pedigree revealed that the mutation was present in all seven affected family members available, but absent in the 13 unaffected family members examined. Besides, in addition to VSD, five of the proband's close relatives also had pulmonary stenosis (PS), and the proband's son also had double outlet right ventricle (DORV). The missense mutation, which altered an evolutionarily conserved amino acid, was absent in 300 unrelated, ethnically matched healthy individuals. Biological analyses using a dual-luciferase reporter assay system showed that the mutant HAND2 was associated with significantly diminished transcriptional activity. Furthermore, the mutation abolished the synergistic activation between HAND2 and GATA4, as well as NKX2.5-two other cardiac core transcriptional factors that have been causally linked to CHD. These findings indicate that HAND2 loss-of-function mutation contributes to human CHD, perhaps via its interaction with GATA4 and NKX2.5. PMID:26865696

  15. A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis

    Directory of Open Access Journals (Sweden)

    Yu-Min Sun

    2016-04-01

    Full Text Available Congenital heart disease (CHD is the most common developmental abnormality, and is the leading noninfectious cause of mortality in neonates. Increasing evidence demonstrates that genetic defects play an important role in the pathogenesis of CHD. However, CHD exhibits substantial heterogeneity, and the genetic determinants for CHD remain unknown in the overwhelming majority of cases. In the current study, the coding exons and flanking introns of the HAND2 gene, which encodes a basic helix-loop-helix transcription factor essential for normal cardiovascular development, were sequenced in 192 unrelated patients with CHD, and a novel heterozygous mutation, p.S65I, was identified in a patient with congenital ventricular septal defect (VSD. Genetic analysis of the index patient’s pedigree revealed that the mutation was present in all seven affected family members available, but absent in the 13 unaffected family members examined. Besides, in addition to VSD, five of the proband’s close relatives also had pulmonary stenosis (PS, and the proband’s son also had double outlet right ventricle (DORV. The missense mutation, which altered an evolutionarily conserved amino acid, was absent in 300 unrelated, ethnically matched healthy individuals. Biological analyses using a dual-luciferase reporter assay system showed that the mutant HAND2 was associated with significantly diminished transcriptional activity. Furthermore, the mutation abolished the synergistic activation between HAND2 and GATA4, as well as NKX2.5—two other cardiac core transcriptional factors that have been causally linked to CHD. These findings indicate that HAND2 loss-of-function mutation contributes to human CHD, perhaps via its interaction with GATA4 and NKX2.5.

  16. A Missense Mutation in Myelin Oligodendrocyte Glycoprotein as a Cause of Familial Narcolepsy with Cataplexy

    OpenAIRE

    Hor, Hyun; Bartesaghi, Luca; Kutalik, Zoltán; Vicário, José L.; de Andrés, Clara; Pfister, Corinne; Lammers, Gert J.; Guex, Nicolas; Chrast, Roman; Tafti, Mehdi; Peraita-Adrados, Rosa

    2011-01-01

    Narcolepsy is a rare sleep disorder characterized by excessive daytime sleepiness and cataplexy. Familial narcolepsy accounts for less than 10% of all narcolepsy cases. However, documented multiplex families are very rare and causative mutations have not been identified to date. To identify a causative mutation in familial narcolepsy, we performed linkage analysis in the largest ever reported family, which has 12 affected members, and sequenced coding regions of the genome (exome sequencing) ...

  17. 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

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

    OpenAIRE

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

    2015-01-01

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

  19. 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.

  20. 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.

  1. 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.

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

    OpenAIRE

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

    2012-01-01

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

  3. 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.

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

    OpenAIRE

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

    2012-01-01

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

  5. Intraarticular hydraulic distension with steroids in the management of hemiplegic shoulder

    OpenAIRE

    Asuman DOĞAN; DEMİRTAŞ, Refika; ÖZGİRGİN, Neşe

    2013-01-01

    The aim of this study is to compare intraarticular steroid administration and steroid administration with hydraulic distention of the glenohumeral joint in hemiplegic patients who had developed shoulder pain and limitation. Materials and methods: The study consisted of 60 patients attending an inpatient rehabilitation program following a stroke. Each patient had shoulder pain and shoulder limitations . The patients were divided into 3 groups consisting of 20 patients each, according to thei...

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

    OpenAIRE

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

    2014-01-01

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

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

    OpenAIRE

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

    2008-01-01

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

  8. 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…

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

    NARCIS (Netherlands)

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

    2004-01-01

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

  10. 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

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

    DEFF Research Database (Denmark)

    Weyhreter, Heike; Schwartz, Marianne; Kristensen, Tim D; Valerius, Niels Henrik; Pærregaard, Anders

    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...... to be healthy nor in 50 normal control patients. The youngest member of the family, a 2-year-old boy, was treated successfully with etanercept....

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

    Science.gov (United States)

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

    2013-05-25

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

  13. Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations.

    Science.gov (United States)

    Brady, Paul D; Van Houdt, Jeroen; Callewaert, Bert; Deprest, Jan; Devriendt, Koenraad; Vermeesch, Joris R

    2014-01-01

    Using exome sequencing we identify a heterozygous nonsense mutation in ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia in 2 affected siblings. This mutation displays variable phenotypic expression being present in a third sibling with a mild diaphragmatic eventration and a cardiovascular malformation. The same variant is seen in 2 additional family members, both of whom are asymptomatic, thus highlighting that ZFPM2 haploinsufficiency is associated with reduced penetrance. Our finding adds further evidence for ZFPM2 having a role in diaphragm and cardiovascular development. PMID:24769157

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

    OpenAIRE

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

    2012-01-01

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

  15. Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

    Science.gov (United States)

    Milunsky, J M; Maher, T A; Michels, V V; Milunsky, A

    2001-05-15

    Familial paragangliomas (PGL) are slow-growing, highly vascular, generally benign neoplasms, usually of the head and neck, that arise from neural crest cells. This rare autosomal dominant disorder is highly penetrant and influenced by genomic imprinting through paternal transmission. Timely detection of these tumors may afford the affected individual the opportunity to avoid the potential serious morbidity associated with surgical removal and the mortality that may accompany local and distant metastases. Linkage to two distinct chromosomal loci, 11q13.1 and 11q23, has been previously reported. Recently, germline mutations in SDHD, a mitochondrial complex II gene on chromosome 11q23, have been demonstrated. We evaluated members of seven families with PGL, five previously studied and shown to have linkage to chromosome 11q23. The entire coding region of the SDHD gene was sequenced and yielded four novel mutations and one mutation shared in three of our unrelated families. Novel mutations found included a truncating mutation in exon 2, as well as a missense mutation, a deletion, and an insertion in exon 4. Three of our families had a common mutation in exon 3 (P81L) that has been reported and thought to be a founder mutation. A restriction enzyme assay was developed for initial screening of this mutation. Molecular analysis is now available and recommended for presymptomatic diagnosis in those at-risk individuals and for confirmatory diagnosis in those having PGL. PMID:11343322

  16. Family Caregiving: Impact of Patient Functioning and Underlying Causes of Dependency.

    Science.gov (United States)

    Silliman, Rebecca A.; Sternberg, Josef

    1988-01-01

    Notes that diseases affect health and functional status of patients in different ways and have variable impacts on family caregivers. Using hip fracture, dementia, and stroke as examples, illustrates how physical, social, psychological, and cognitive disabilities place different demands on caregivers. (Author)

  17. Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P)

    Science.gov (United States)

    Osaki, Yoshinori; Hayashi, Yoshitaka; Nakagawa, Yoshinori; Yoshida, Katsumi; Ozaki, Hiroshi; Fukazawa, Hiroshi

    2016-01-01

    Familial dysalbuminemic hyperthyroxinemia (FDH) is a familial autosomal dominant disease caused by mutation in the albumin gene that produces a condition of euthyroid hyperthyroxinemia. In patients with FDH, serum-free thyroxine (FT4) and free triiodothyronine (FT3) concentrations as measured by several commercial methods are often falsely increased with normal thyrotropin (TSH). Therefore, several diagnostic steps are needed to differentiate TSH-secreting tumor or generalized resistance to thyroid hormone from FDH. We herein report a case of a Japanese man born in Aomori prefecture, with FDH caused by a mutant albumin gene (R218P). We found that a large number of FDH patients reported in Japan to date might have been born in Aomori prefecture and have shown the R218P mutation. In conclusion, FDH needs to be considered among the differential diagnoses in Japanese patients born in Aomori prefecture and showing normal TSH levels and elevated FT4 levels. PMID:27081329

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

    OpenAIRE

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

    1998-01-01

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

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Science.gov (United States)

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

    2016-01-01

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

  1. 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.

  2. Arm posture score and arm movement during walking: a comprehensive assessment in spastic hemiplegic cerebral palsy.

    Science.gov (United States)

    Riad, Jacques; Coleman, Scott; Lundh, Dan; Broström, Eva

    2011-01-01

    Patients with hemiplegic cerebral palsy often have noticeably deviant arm posture and decreased arm movement. Here we develop a comprehensive assessment method for the upper extremity during walking. Arm posture score (APS), deviation of shoulder flexion/extension, shoulder abduction/adduction, elbow flexion/extension and wrist flexion/extension were calculated from three-dimensional gait analysis. The APS is the root mean square deviation from normal, similar to Baker's Gait Profile Score (GPS) [1]. The total range of motion (ROM) was defined as the difference between the maximum and minimum position in the gait cycle for each variable. The arm symmetry, arm posture index (API) was calculated by dividing the APS on the hemiplegic side by that on the non-involved side, and the range of motion index (ROMI) by dividing the ROM on the hemiplegic side by that on the non-involved side. Using the APS, two groups were defined. Group 1 had minor deviations, with an APS under 9.0 and a mean of 6.0 (95% CI 5.0-7.0). Group 2 had more pronounced deviations, with an APS over 9.0 and a mean of 13.1 (CI 10.8-15.5) (p=0.000). Total ROM was 60.6 in group 1 and 46.2 in group 2 (p=0.031). API was 0.89 in group 1 and 1.70 in group 2 (pdynamic measurements of upper extremity abnormality can be useful in following natural progression, evaluating treatment and making prognoses in several categories of patients. PMID:20971011

  3. 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.

  4. 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.

  5. Families in Poverty in the 1990s: Trends, Causes, Consequences, and Lessons Learned.

    Science.gov (United States)

    Seccombe, Karen

    2000-01-01

    During the 1990s, poverty rates in the United States remained relatively stable despite a robust economy. This paper reviews the research and theoretical and conceptual developments during the past decade, including how the poverty line was developed; the causes of the virtually unchanged poverty rate; and the consequences of poverty for children.…

  6. Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

    Science.gov (United States)

    López-Hernández, Tania; Ridder, Margreet C.; Montolio, Marisol; Capdevila-Nortes, Xavier; Polder, Emiel; Sirisi, Sònia; Duarri, Anna; Schulte, Uwe; Fakler, Bernd; Nunes, Virginia; Scheper, Gert C.; Martínez, Albert; Estévez, Raúl; van der Knaap, Marjo S.

    2011-01-01

    Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurological deterioration. Recessive MLC1 mutations are observed in 75% of patients with MLC. Genetic-linkage studies failed to identify another gene. We recently showed that some patients without MLC1 mutations display the classical phenotype; others improve or become normal but retain macrocephaly. To find another MLC-related gene, we used quantitative proteomic analysis of affinity-purified MLC1 as an alternative approach and found that GlialCAM, an IgG-like cell adhesion molecule that is also called HepaCAM and is encoded by HEPACAM, is a direct MLC1-binding partner. Analysis of 40 MLC patients without MLC1 mutations revealed multiple different HEPACAM mutations. Ten patients with the classical, deteriorating phenotype had two mutations, and 18 patients with the improving phenotype had one mutation. Most parents with a single mutation had macrocephaly, indicating dominant inheritance. In some families with dominant HEPACAM mutations, the clinical picture and magnetic resonance imaging normalized, indicating that HEPACAM mutations can cause benign familial macrocephaly. In other families with dominant HEPACAM mutations, patients had macrocephaly and mental retardation with or without autism. Further experiments demonstrated that GlialCAM and MLC1 both localize in axons and colocalize in junctions between astrocytes. GlialCAM is additionally located in myelin. Mutant GlialCAM disrupts the localization of MLC1-GlialCAM complexes in astrocytic junctions in a manner reflecting the mode of inheritance. In conclusion, GlialCAM is required for proper localization of MLC1. HEPACAM is the second gene found to be mutated in MLC. Dominant HEPACAM mutations can cause either macrocephaly and mental retardation with or without autism or benign familial macrocephaly. PMID:21419380

  7. 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.

  8. 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.

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

    Science.gov (United States)

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

    2011-01-01

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

  10. FAMILY DISORGANISATION: A STUDY OF THE CAUSES AND CONSEQUENCES OF DIVORCE IN KARANATAKA

    OpenAIRE

    Surendra.k; Ramadevi.k

    2012-01-01

    This paper is the report of a study carried out on the causes and consequences of Divorce in Karnataka India. Four hundred and thirty (430) people, who were randomly selected from amongst male and female teachers, business literates, social welfare officers and public servants responded to the researcher -made questionnaire on the topic. A 24-item questionnaire was administered to the four hundred and thirty (430) people. Three hundred and eight (380) questionnaires were properly filled and u...

  11. 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…

  12. 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. PMID:26381192

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

    OpenAIRE

    Karthikeyan Thangavelu; A. S. Moorthy

    2013-01-01

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

  14. 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

  15. 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.

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

    Science.gov (United States)

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

    2012-01-10

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

  17. Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear

    Science.gov (United States)

    Aridon, Paolo; Marini, Carla; Di Resta, Chiara; Brilli, Elisa; De Fusco, Maurizio; Politi, Fausta; Parrini, Elena; Manfredi, Irene; Pisano, Tiziana; Pruna, Dario; Curia, Giulia; Cianchetti, Carlo; Pasqualetti, Massimo; Becchetti, Andrea; Guerrini, Renzo; Casari, Giorgio

    2006-01-01

    Sleep has traditionally been recognized as a precipitating factor for some forms of epilepsy, although differential diagnosis between some seizure types and parasomnias may be difficult. Autosomal dominant frontal lobe epilepsy is characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements and has been associated with mutations of the α4 and β2 subunits of the neuronal nicotinic acetylcholine receptor. We performed a clinical and molecular genetic study of a large pedigree segregating sleep-related epilepsy in which seizures are associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking. We identified a new genetic locus for familial sleep-related focal epilepsy on chromosome 8p12.3-8q12.3. By sequencing the positional candidate neuronal cholinergic receptor α2 subunit gene (CHRNA2), we detected a heterozygous missense mutation, I279N, in the first transmembrane domain that is crucial for receptor function. Whole-cell recordings of transiently transfected HEK293 cells expressing either the mutant or the wild-type receptor showed that the new CHRNA2 mutation markedly increases the receptor sensitivity to acetylcholine, therefore indicating that the nicotinic α2 subunit alteration is the underlying cause. CHRNA2 is the third neuronal cholinergic receptor gene to be associated with familial sleep-related epilepsies. Compared with the CHRNA4 and CHRNB2 mutations reported elsewhere, CHRNA2 mutations cause a more complex and finalized ictal behavior. PMID:16826524

  18. 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.

  19. Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

    Science.gov (United States)

    Monroe, Glen R; Harakalova, Magdalena; van der Crabben, Saskia N; Majoor-Krakauer, Danielle; Bertoli-Avella, Aida M; Moll, Frans L; Oranen, Björn I; Dooijes, Dennis; Vink, Aryan; Knoers, Nine V; Maugeri, Alessandra; Pals, Gerard; Nijman, Isaac J; van Haaften, Gijs; Baas, Annette F

    2015-06-01

    Different forms of Ehlers-Danlos syndrome (EDS) exist, with specific phenotypes and associated genes. Vascular EDS, caused by heterozygous mutations in the COL3A1 gene, is characterized by fragile vasculature with a high risk of catastrophic vascular events at a young age. Classic EDS, caused by heterozygous mutations in the COL5A1 or COL5A2 genes, is characterized by fragile, hyperextensible skin and joint laxity. To date, vessel rupture in four unrelated classic EDS patients with a confirmed COL5A1 mutation has been reported. We describe familial occurrence of a phenotype resembling vascular EDS in a mother and her two sons, who all died at an early age from arterial ruptures. Diagnostic Sanger sequencing in the proband failed to detect aberrations in COL3A1, COL1A1, COL1A2, TGFBR1, TGFBR2, SMAD3, and ACTA2. Next, the proband's DNA was analyzed using a next-generation sequencing approach targeting 554 genes linked to vascular disease (VASCULOME project). A novel heterozygous mutation in COL5A1 was detected, resulting in an essential glycine substitution at the C-terminal end of the triple helix domain (NM_000093.4:c.4610G>T; p.Gly1537Val). This mutation was also present in DNA isolated from autopsy material of the index's brother. No material was available from the mother, but the mutation was excluded in her parents, siblings and in the father of her sons, suggesting that the COL5A1 mutation occurred in the mother's genome de novo. In conclusion, we report familial occurrence of lethal arterial events caused by a COL5A1 mutation. PMID:25845371

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

    OpenAIRE

    Kwon, Yong Hyun; Lee, Hye Young

    2015-01-01

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

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

    OpenAIRE

    Emilyn Borba da Silva; Daniela Tonús

    2015-01-01

    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 m...

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

    Science.gov (United States)

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

    2016-03-01

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

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

    Science.gov (United States)

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

    2012-12-01

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

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

    Science.gov (United States)

    Choccalingam, Chidambharam; Samuel, Premila

    2016-01-01

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

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

    Science.gov (United States)

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

    2012-05-01

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

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

    Directory of Open Access Journals (Sweden)

    T. I. Dolgikh

    2010-01-01

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

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

    International Nuclear Information System (INIS)

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

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

    International Nuclear Information System (INIS)

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

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

    Directory of Open Access Journals (Sweden)

    Bijelić Goran

    2004-01-01

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

  10. 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

  11. 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.

  12. Comparison of EMG Biofeedback and Johnstone Pressure Splints in Children with Hemiplegic Cerebral Palsy

    Directory of Open Access Journals (Sweden)

    Ali Kitiş

    2010-10-01

    Full Text Available Objective: This study was carried out to compare Johnstone pressure splints and electromyographic (EMG biofeedback in addition to neurodevelopmental therapy on activities of daily living, sensory perception and motor integration functions, functional hand activities, and muscle tone in children with hemiplegic cerebral palsy (CP. Materials and Methods: Thirty-eight children with spastic hemiplegic cerebral palsy, whose motor development levels were similar, were included in this study and were divided into two groups. In addition to Bobath’s neurodevelopmental therapy, Group I was treated with pressure splints for the upper extremity and Group II-with EMG biofeedback training, also applied to the upper extremity, three times a week for three months. In the biofeedback group the session length was 20 minutes and in the Johnstone group, it was 50 minutes in total, with and without splinting. Patients were evaluated for muscle tone, activities of daily living, sensory perception and motor integration functions, and functional hand activities before and after therapy, and on the third and sixth months following therapy. Results: At the third and sixth months after treatment, significant improvement was found in muscle tone, activities of daily living, sensory perception and motor integration functions, and functional hand activities (p<0.05. Moreover, the findings in Group I were more significant than those in Group II (p<0.001. Conclusion: These results show that both treatment methods are helpful to Bobath approach in cerebral palsy rehabilitation. However, EMG biofeedback treatment is more effective due to the fact that it encourages the child’s active participation. Turk J Phys Med Rehab 2010;56:116-23.

  13. 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.

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

    Science.gov (United States)

    Rhyne, Jeffrey; Mantaring, Myrna M; Gardner, David F; Miller, Michael

    2009-01-01

    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. PMID:19133158

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

    Science.gov (United States)

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

    2016-08-01

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

  17. 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.

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

    Science.gov (United States)

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

    2012-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Hong-Yang Wang

    2015-01-01

    Full Text Available 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.Y136FNx01 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.

  20. The A431E mutation in PSEN1 causing Familial Alzheimer’s Disease originating in Jalisco State, Mexico: an additional fifteen families

    OpenAIRE

    Murrell, Jill; Ghetti, Bernardino; Cochran, Elizabeth; Macias-Islas, Miguel Angel; Medina, Luis; Varpetian, Arousiak; Cummings, Jeffrey L.; Mendez, Mario F.; KAWAS, CLAUDIA; Chui, Helena; Ringman, John M.

    2006-01-01

    Nine families with autosomal dominant Alzheimer’s disease (AD), all of whom had the Ala431Glu substitution in the PSEN1 gene and came from Jalisco State in Mexico, have been previously reported. As they shared highly polymorphic flanking dinucleotide marker alleles, this strongly suggests that this mutation arose from a common founder. In the current letter, we expand this observation by describing an additional 15 independent families with the Ala431Glu substitution in the PSEN1 gene and con...

  1. Family History

    Science.gov (United States)

    ... Brain Aneurysm Statistics and Facts Seeking Medical Attention Pediatric Aneurysms Brain Aneurysm Causes and Risk Factors Family History ... Brain Aneurysm Statistics and Facts Seeking Medical Attention Pediatric Aneurysms Brain Aneurysm Causes and Risk Factors Family History ...

  2. 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

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

    NARCIS (Netherlands)

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

    2011-01-01

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

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

    NARCIS (Netherlands)

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

    2011-01-01

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

  5. 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。

  6. 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; Qiu, Weimin; Chi, Leiting; Li, Yunqing; Su, Zhiguang

    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...

  7. 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.

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

    Directory of Open Access Journals (Sweden)

    José Barros

    2012-06-01

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

  9. 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.

  10. Patients with cancer and family caregivers: management of symptoms caused by cancer or cancer therapy at home

    OpenAIRE

    Hazelwood, Daniela Maria; Koeck, Sabine; Wallner, Martin; Anderson, Kathryn Hoehn; Mayer, Hanna

    2012-01-01

    People are diagnosed with cancer sooner nowadays thanks to increased awareness and improvements in cancer screenings. Patients are able to live longer due to cancer treatment regimens; however, they suffer the consequences of living with cancer and therapy-related symptoms. Symptom management is challenging for both patients and family caregivers. Therefore, family members must be integrated in the patient’s care plan. For this review, a literature search was conducted to determine what types...

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

    Directory of Open Access Journals (Sweden)

    Neil V Morgan

    2010-02-01

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

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

    Directory of Open Access Journals (Sweden)

    Meixia Li

    2015-11-01

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

  13. 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.

  14. 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.

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

    Directory of Open Access Journals (Sweden)

    Harsheen Kaur

    2016-01-01

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

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Science.gov (United States)

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

    2016-09-01

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

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

    OpenAIRE

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

    2005-01-01

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

  19. 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. PMID:19743632

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

    DEFF Research Database (Denmark)

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

    2010-01-01

    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 wi...... quite primitive in origin since the same mutation is responsible for the same phenotypic outcome in two families of geographically different descent.......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...

  1. Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2.

    Science.gov (United States)

    Beristain, Elena; Ibáñez, Berta; Vergara, Itziar; Martínez-Bouzas, Cristina; Guerra, Isabel; Tejada, Maria Isabel

    2010-06-01

    Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer, and their identification allows genetic testing of at-risk relatives. However, estimates of these risks illustrate controversies, depending on the published series. The penetrance, the earlier onset of the disease and the effect of mutations on the risk of developing breast and ovarian cancer were evaluated in 344 females belonging to 34 families from the Basque Country in Spain, in which BRCA1 or BRCA2 mutations were transmitted. Kaplan-Meier survival curves were used to derive cumulative probability curves for breast and ovarian cancer by mutation status, birth cohort and mutation position, and significance of the differences was assessed using the log-rank test. The estimated probability for breast cancer by age 70 is about 64% in BRCA1 and 69% in BRCA2, whereas the probability of developing ovarian cancer is about 37% and 25% for BRCA1 and BRCA2, respectively. There is a marginally significant higher risk of developing ovarian cancer in BRCA1 families than in BRCA2 families. The effect of birth cohort on breast cancer cumulative incidence presents an increased risk for females born after 1966 and a decreased risk for those born before 1940. There is no association between mutation position and breast cancer; however, ovarian cancer is associated to BRCA1, presenting exon 11 as an ovarian cluster. These results are important for the breast and ovarian cancer diagnosis and prevention in at-risk families. PMID:22460208

  2. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

    OpenAIRE

    Hunt, D; Leventer, R.J.; Simons, C.; Taft, R; Swoboda, K.J.; Gawne-Cain, M; Magee, A.C.; Turnpenny, P D; Baralle, D

    2014-01-01

    Background: De novo mutations are emerging as an important cause of neurocognitive impairment, and whole exome sequencing of case-parent trios is a powerful way of detecting them. Here, we report the findings in four such trios. Methods: The Deciphering Developmental Disorders study is using whole exome sequencing in family trios to investigate children with severe, sporadic, undiagnosed developmental delay. Three of our patients were ascertained from the first 1133 children to have been...

  3. 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

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

    Science.gov (United States)

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

    2015-12-01

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

  5. 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.

  6. 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.

  7. 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. PMID:26696708

  8. 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.

  9. Pigmented mesenteric lymphadenopathy in familial adenomatous polyposis - an unusual cause of intraoperative abandonment of ileo-anal pouch.

    OpenAIRE

    Pranesh, N; Haboubi, N Y; O'Dwyer, S T

    2005-01-01

    Familial adenomatous polyposis (FAP) is an autosomal dominant condition with near complete penetrance, characterised by the presence of numerous adenomatous polyps of the colon and rectum. Melanosis coli describes the brownish-black discolouration of the colon resulting from the accumulation of a granular pigment in the phagosomes of macrophages in the colonic lamina propria. The presence of melanosis pigment in pericolonic lymph nodes has been reported in patients with coincidental melanosis...

  10. Downy mildew caused by Hyaloperonospora (Peronospora) spp. on wild rocket (Diplotaxis tenuifolia) and other crops from Brassicaceae family

    OpenAIRE

    Hladilova, Jana Johansen

    2011-01-01

    Abstract Downy mildew is caused by plant parasitic Oomycetes from the genus Hyaloperonospora and the genus Peronospora. Downy mildew is a common disease of brassicas and closely related cruciferous crops. This thesis surveys downy mildew caused by Hyaloperonospora (Peronospora) spp. with focus on the rocket salad species. The susceptibility experiment was carried out to research the host specificity of plant parasitic Oomycetes Hyaloperonospora (Peronospora) spp. on rocket salad (wil...

  11. 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 and...... hippocampi. Microscopy revealed abundant numbers of tau-positive neurofibrillary tangles in all cortical areas and in some brainstem nuclei corresponding to a diagnosis of frontotemporal lobe degeneration on the basis of a MAPT mutation. The clinical and genetic heterogeneity of autosomal dominant inherited...

  12. 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.

  13. 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.

  14. 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.

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

    Directory of Open Access Journals (Sweden)

    Jovana Malešević

    2016-06-01

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

  16. 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.

  17. A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.

    Science.gov (United States)

    Zhang, Manli; Cheng, Jing; Liu, Aijun; Wang, Longxia; Xiong, Lihua; Chen, Meixia; Sun, Yi; Li, Jianzhong; Lu, Yu; Yuan, Huijun; Li, Yali; Lu, Yanping

    2015-01-01

    Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive condition characterized by renal cysts and variably associated features, including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Genetic heterogeneity has been demonstrated at eleven loci, MKS1-11. Here, we present the clinical and molecular characteristics of a Chinese MKS3 family with occipital encephalocele and kidney enlargement. DNA sequencing of affected fetuses revealed a homozygous c.1645C>T substitution in exon 16 of TMEM67, leading to a p.R549C substitution in meckelin. The R549 residue is highly conserved across human, rat, mouse, zebrafish, chicken, wolf and platypus genomes. Hha I restriction analysis demonstrated that the c.1645C>T mutation was absent in 200 unrelated control chromosomes of Chinese background, supporting the hypothesis that it represents causative mutation, not rare polymorphism. Our data provide additional molecular and clinical information for establishing a better genotype-phenotype understanding of MKS. PMID:26191240

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

    OpenAIRE

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

    2016-01-01

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

  19. A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family.

    Science.gov (United States)

    Abu-Rashid, M; Mahajnah, M; Jaber, L; Kornreich, L; Bar-On, E; Basel-Vanagaite, L; Soffer, D; Koenig, M; Straussberg, R

    2013-05-01

    Giant axonal neuropathy is a severe autosomal recessive neurodegenerative disorder of childhood that affects both the peripheral and central nervous systems. It is caused by mutations in the GAN gene linked to chromosome 16q24.1 At least 45 distinct disease-causing mutations have been identified throughout the gene in families of various ethnic origins, with different symptomatologies and different clinical courses. To date, no characteristic mutation or phenotype-genotype correlation has been established. We describe a novel missense mutation in four siblings born to consanguineous parents of Arab original with clinical and molecular features compatible with giant axonal neuropathy. The phenotype was characterized by a predominant motor and sensory peripheral neuropathies and severe skeletal deformities. PMID:23332420

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

    NARCIS (Netherlands)

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

    2015-01-01

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

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

    Science.gov (United States)

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

    2001-10-01

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

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

    OpenAIRE

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

    2015-01-01

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

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

    OpenAIRE

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

    2011-01-01

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

  4. 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

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

    Science.gov (United States)

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

    2003-11-01

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

  6. 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

  7. Neuronal activation by electrical neuromuscular stimulation in hemiplegic patients demonstrated with 99m-Tc-ECD brain SPECT

    International Nuclear Information System (INIS)

    Electrical neuromuscular stimulation (ENS) has been shown to improve volitional movement of upper limbs and decrease muscle hypertonia in hemiplegic patients. Aim: The purpose of this study was to demonstrate regional cerebral perfusion changes secondary to neuronal activation after ENS using 99mTc-ECD SPECT and to correlate these findings with clinical improvement. Materials and Methods: Nine hemiplegic and 3 paraparetic patients, with 14 to 59 years of age, 10 males and 2 females, were studied. ENS was performed for 14 weeks in 45-minute sessions on the muscles involved in hand opening and closing. Each patient was submitted to neurological examination before and after treatment and underwent three 99mTc-ECD SPECT studies: a pre-treatment study; a study performed during the first ENS session; and the third study during the last ENS session (after 14 weeks of treatment). Visual analysis of brain SPECT images was performed by two experienced nuclear physicians. Region-to-pons ratio (R/PO) was obtained for 15 brain regions. An asymmetry index (AI) was also calculated for all regions using the equation: AI=2X(R-L)/(R+L), where R is right and L is left. The visual and semi-quantitative results were compared in the three studies. Results: Visual analysis revealed perfusion improvement mainly in areas adjacent to the brain lesion (penumbra) but also in the contra-lateral cerebral hemisphere. Perfusion improvement was found in the frontal lobe (5 patients), fronto-parietal (1), fronto-temporal (1), temporal (2), basal ganglia (5) and in the thalami (1). In the pre-treatment study, 8 patients showed cerebellar diaschisis, which decreased during treatment in 2 patients and increased in 2. The asymmetry index showed significant variability among the three studies in 8 regions. The R/PO ratio did not correlate with the visual analysis. Neurological examination showed significant improvement in 10 patients, 9 of which showed perilesional brain perfusion improvement

  8. 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

  9. Learning about Familial Hypercholesterolemia

    Science.gov (United States)

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

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

    Science.gov (United States)

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

    2008-09-01

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

  11. 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.

  12. A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family

    Directory of Open Access Journals (Sweden)

    A.C. Batissoco

    2009-02-01

    Full Text Available Mutations in the GJB2 gene, encoding connexin 26 (Cx26, are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T, in compound heterozygosity with a c.35delG mutation, in two Brazilian sibs, one presenting mild and the other profound nonsyndromic neurosensorial hearing impairment. Their father, who carried a wild-type allele and a p.L76P mutation, had normal hearing. The mutation leads to the substitution of leucine (L by proline (P at residue 76, an evolutionarily conserved position in Cx26 as well as in other connexins. This mutation is predicted to affect the first extracellular domain (EC1 or the second transmembrane domain (TM2. EC1 is important for connexon-connexon interaction and for the control of channel voltage gating. The segregation of the c.227C>T (p.L76P mutation together with c.35delG in this family indicates a recessive mode of inheritance. The association between the p.L76P mutation and hearing impairment is further supported by its absence in a normal hearing control group of 100 individuals, 50 European-Brazilians and 50 African-Brazilians.

  13. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2

    DEFF Research Database (Denmark)

    Neilson, Derek E; Adams, Mark D; Orr, Caitlin M D;

    2009-01-01

    susceptibility locus (ANE1) in a family segregating recurrent ANE as an incompletely penetrant, autosomal-dominant trait. We now report that all affected individuals and obligate carriers in this family are heterozygous for a missense mutation (c.1880C-->T, p.Thr585Met) in the gene encoding the nuclear pore...... protein Ran Binding Protein 2 (RANBP2). To determine whether this mutation is the susceptibility allele, we screened controls and other patients with ANE who are unrelated to the index family. Patients from 9 of 15 additional kindreds with familial or recurrent ANE had the identical mutation. It arose de...... novo in two families and independently in several other families. Two other patients with familial ANE had different RANBP2 missense mutations that altered conserved residues. None of the three RANBP2 missense mutations were found in 19 patients with isolated ANE or in unaffected controls. We conclude...

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

    Science.gov (United States)

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

    2016-08-01

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

  15. 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.

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

    Science.gov (United States)

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

    2016-06-01

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

  17. Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

    Science.gov (United States)

    Neilson, Derek E.; Adams, Mark D.; Orr, Caitlin M.D.; Schelling, Deborah K.; Eiben, Robert M.; Kerr, Douglas S.; Anderson, Jane; Bassuk, Alexander G.; Bye, Ann M.; Childs, Anne-Marie; Clarke, Antonia; Crow, Yanick J.; Di Rocco, Maja; Dohna-Schwake, Christian; Dueckers, Gregor; Fasano, Alfonso E.; Gika, Artemis D.; Gionnis, Dimitris; Gorman, Mark P.; Grattan-Smith, Padraic J.; Hackenberg, Annette; Kuster, Alice; Lentschig, Markus G.; Lopez-Laso, Eduardo; Marco, Elysa J.; Mastroyianni, Sotiria; Perrier, Julie; Schmitt-Mechelke, Thomas; Servidei, Serenella; Skardoutsou, Angeliki; Uldall, Peter; van der Knaap, Marjo S.; Goglin, Karrie C.; Tefft, David L.; Aubin, Cristin; de Jager, Philip; Hafler, David; Warman, Matthew L.

    2009-01-01

    Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur in otherwise healthy children after common viral infections such as influenza and parainfluenza. Most ANE is sporadic and nonrecurrent (isolated ANE). However, we identified a 7 Mb interval containing a susceptibility locus (ANE1) in a family segregating recurrent ANE as an incompletely penetrant, autosomal-dominant trait. We now report that all affected individuals and obligate carriers in this family are heterozygous for a missense mutation (c.1880C→T, p.Thr585Met) in the gene encoding the nuclear pore protein Ran Binding Protein 2 (RANBP2). To determine whether this mutation is the susceptibility allele, we screened controls and other patients with ANE who are unrelated to the index family. Patients from 9 of 15 additional kindreds with familial or recurrent ANE had the identical mutation. It arose de novo in two families and independently in several other families. Two other patients with familial ANE had different RANBP2 missense mutations that altered conserved residues. None of the three RANBP2 missense mutations were found in 19 patients with isolated ANE or in unaffected controls. We conclude that missense mutations in RANBP2 are susceptibility alleles for familial and recurrent cases of ANE. PMID:19118815

  18. 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; Füchtbauer, Ernst-Martin; de Oliveira, João Ricardo Mendes; Pedersen, Lene

    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...

  19. A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene.

    Science.gov (United States)

    Camats, Núria; Üstyol, Ala; Atabek, Mehmet Emre; Dick, Bernhard; Flück, Christa E

    2015-10-01

    A novel homozygous long-range deletion of the CYP17A1 gene abolished protein expression and caused the severest form of 17-hydroxylase deficiency in one kindred of a Turkish family. The affected subjects presented with 46,XY sex reversal and 46,XX lack of pubertal development as well as severe hypertension. PMID:26509008

  20. 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.

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

    Directory of Open Access Journals (Sweden)

    Jae Yong Eom

    2006-02-01

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

  2. Familial breast cancer.

    OpenAIRE

    Phipps, R. F.; Perry, P M

    1988-01-01

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

  3. 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

  4. 2012 European Thyroid Association Guidelines for the Management of Familial and Persistent Sporadic Non-Autoimmune Hyperthyroidism Caused by Thyroid-Stimulating Hormone Receptor Germline Mutations

    Science.gov (United States)

    Paschke, R.; Niedziela, M.; Vaidya, B.; Persani, L.; Rapoport, B.; Leclere, J.

    2012-01-01

    All cases of familial thyrotoxicosis with absence of evidence of autoimmunity and all children with persistent isolated neonatal hyperthyroidism should be evaluated for familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) or persistent sporadic non-autoimmune hyperthyroidism (PSNAH). First, all index patients should be analysed for the presence/absence of a thyroid-stimulating hormone (TSH) receptor (TSHR) germline mutation, and if they display a TSHR germline mutation, all other family members including asymptomatic and euthyroid family members should also be analysed. A functional characterization of all new TSHR mutations is necessary. Appropriate ablative therapy is recommended to avoid relapses of hyperthyroidism and its consequences, especially in children. Therefore, in children the diagnosis of FNAH or PSNAH needs to be established as early as possible in the presence of the clinical hallmarks of the disease. PMID:24783013

  5. Ectopic Expression of BraYAB1-702, a Member of YABBY Gene Family in Chinese Cabbage, Causes Leaf Curling, Inhibition of Development of Shoot Apical Meristem and Flowering Stage Delaying in Arabidopsis thaliana

    OpenAIRE

    Lu-Gang Zhang; Jing Zhang; Ze-Ping Yang; Xin-Ling Zhang

    2013-01-01

    YABBY gene family plays an important role in the polarity development of lateral organs. We isolated the BraYAB1-702 gene, a member of the YABBY gene family, from young leaves of Chinese cabbage line 06J45. The full-length gene has a 937 bp CDNA sequence and contains an open reading frame (ORF) of 702 bp. The subcellular localization analysis showed that the expression product of the gene was localized in the nucleus. Ectopic expression of BraYAB1-702 in Arabidopsis thaliana caused leaf curli...

  6. Familial frontotemporal dementia-associated presenilin-1 c.548G>T mutation causes decreased mRNA expression and reduced presenilin function in knockin mice

    OpenAIRE

    Watanabe, Hirotaka; XIA, DAN; Kanekiyo, Takahisa; Kelleher, Raymond J.; Shen, Jie

    2012-01-01

    Mutations in the presenilin-1 (PSEN1) gene are associated with familial Alzheimer's disease and frontotemporal dementia (FTD). Interestingly, neuropathological analysis of a Belgian FTD family carrying a PSEN1 c.548G>T mutation confirmed neurodegeneration in the absence of amyloid plaques. To investigate the impact of the c.548G>T mutation on presenilin-1 (PS1) function in vivo, we introduced this mutation into the genomic Psen1 locus. The resulting c.548G>T knockin (KI) mice are viable but e...

  7. Disease: H00775 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00775 Familial or sporadic hemiplegic migraine Sporadic and familial hemiplegic migraine...ID:21458376 (description, gene, drug) Russell MB, Ducros A Sporadic and familial hemiplegic migraine...cet Neurol 10:457-70 (2011) PMID:20187861 (description, gene) Russell MB Management of sporadic and familial hemiplegic migraine. Expert Rev Neurother 10:381-7 (2010) ...

  8. 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

  9. 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.

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Science.gov (United States)

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

    2016-08-15

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

  12. The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family.

    Science.gov (United States)

    Alrayes, Nuha; Mohamoud, Hussein Sheikh Ali; Ahmed, Saleem; Almramhi, Mona Mohammad; Shuaib, Taghreed Mohammad; Wang, Jun; Al-Aama, Jumana Yousuf; Everett, Kate; Nasir, Jamal; Jelani, Musharraf

    2016-04-15

    Autosomal recessive primary microcephaly (MCPH) refers to a genetically heterogeneous group of neurodevelopmental disorders in which patients exhibit a marked decrease in occipitofrontal head circumference at birth and a variable degree of intellectual disability. To date, 18 genes have been reported for MCPH worldwide. We enrolled a consanguineous family from Saudi Arabia presenting with primary microcephaly, developmental delay, short stature and intellectual disability. Whole exome sequencing (WES) with 100× coverage was performed on two affected siblings after defining common regions of homozygosity through genome-wide single nucleotide polymorphism (SNP) microarray genotyping. WES data analysis, confirmed by subsequent Sanger sequence validation, identified a novel homozygous deletion mutation (c.967delA; p.Glu324Lysfs12*) in exon 10 of the alkylglycerol monooxygenase (AGMO) gene on chromosome 7p21.2. Population screening of 178 ethnically matched control chromosomes and consultation of the Exome Aggregation Consortium database, containing 60,706 individuals' exomes worldwide, confirmed that this mutation was not present outside the family. To the best of our knowledge, this is the first evidence of an AGMO mutation underlying primary microcephaly and intellectual disability in humans. Our findings further expand the genetic heterogeneity of MCPH in familial cases. PMID:27000257

  13. RNA interference suppression of genes in glycosyl transferase families 43 and 47 in wheat starchy endosperm causes large decreases in arabinoxylan content

    OpenAIRE

    Lovegrove, Alison; Wilkinson, Mark D; Freeman, Jackie; Pellny, Till K.; Tosi, Paola; Saulnier, Luc; Shewry, Peter R.; Mitchell, Rowan A. C.

    2013-01-01

    The cell walls of wheat (Triticum aestivum) starchy endosperm are dominated by arabinoxylan (AX), accounting for 65% to 70% of the polysaccharide content. Genes within two glycosyl transferase (GT) families, GT43 (IRREGULAR XYLEM9 [IRX9] and IRX14) and GT47 (IRX10), have previously been shown to be involved in the synthesis of the xylan backbone in Arabidopsis, and close homologs of these have been implicated in the synthesis of xylan in other species. Here, homologs of IRX10 TaGT47_2 and IRX...

  14. Observation of a high-energy cosmic-ray family caused by a Centauro-type nuclear interaction in the joint emulsion chamber experiment at the Pamirs

    Energy Technology Data Exchange (ETDEWEB)

    Borisov, A.S.; Cherdyntseva, K.V.; Guseva, Z.M.; Denisova, V.G.; Dunaevsky, A.M.; Kanevskaya, E.A.; Maximenko, V.M.; Nam, R.A.; Puchkov, V.S.; Slavatinsky, S.A.

    1987-05-21

    An exotic cosmic-ray family event is observed in the large emulsion chamber exposed by the joint experiment at the Pamirs (4360 m above sea level). The family is composed of 120..gamma..-ray-induced showers and 37 hadron-induced showers with individual visible energy exceeding 1 TeV. The decisive feature of the event is the hadron dominance: ..sigma..E/sub ..gamma../, ..sigma..E/sup (..gamma..)//sub h/, , , and being 298 TeV, 476 TeV, 2.5 TeV, 12.9 TeV, 28.6 GeV m and 173 GeV m, respectively. Most probably the event is due to a Centauro interaction, which occurred in the atmosphere at approx. = 700 m above the chamber. The event will constitute the second beautiful candidate for a Centauro observed at the Pamirs.

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

    International Nuclear Information System (INIS)

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

  16. 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

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

    Science.gov (United States)

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

    2005-01-30

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

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

    OpenAIRE

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

    2007-01-01

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

  19. 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

  20. 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

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

    Institute of Scientific and Technical Information of China (English)

    朱莉

    2012-01-01

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

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

    Science.gov (United States)

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

    2015-01-01

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

  3. 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

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

    Directory of Open Access Journals (Sweden)

    Christian eZörb

    2013-09-01

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

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

    Science.gov (United States)

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

    2016-01-01

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

  6. 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 

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-09-01

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

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

    Directory of Open Access Journals (Sweden)

    Akanksha Singh

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

  9. 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.

  10. Detecting Rare Disease-Causing Glitches

    Science.gov (United States)

    ... Health Capsules Detecting Rare Disease-Causing Glitches A Priceless Gift: Your Family Health History Featured Website: Go4Life ... Health Capsules Detecting Rare Disease-Causing Glitches A Priceless Gift: Your Family Health History Featured Website: Go4Life ...

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

    Science.gov (United States)

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

    2015-12-01

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

  12. Familial hyperaldosteronism.

    Science.gov (United States)

    Stowasser, M; Gordon, R D

    2001-09-01

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

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

    Science.gov (United States)

    Gullette, Lyn Cobin

    1987-01-01

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

  14. Familial paragangliomas

    Directory of Open Access Journals (Sweden)

    Lips CJM

    2006-10-01

    Full Text Available Abstract Paragangliomas are rare tumours of the autonomic nervous system and occur in sporadic and hereditary forms. They are usually benign and have a low mortality. However, they cause significant morbidity related to their mass effect. Genetic predisposition can occur within the familial tumour syndromes multiple endocrine neoplasia type 2 (MEN 2, von Hippel-Lindau (VHL and neurofibromatosis type 1 (NF-1, or be due to mutations in genes specific to the development of paraganglioma only. Compared to sporadic forms, familial paragangliomas tend to present at a younger age and at multiple sites. Tumours should be diagnosed and resected as early as possible, as it has been shown that morbidity is related to tumour size. This article gives an overview of the current literature on the origin of the different forms of paragangliomas, DNA diagnosis, as well as biochemical and radiological screening guidelines.

  15. Family and non-family business differences in Estonia

    Directory of Open Access Journals (Sweden)

    Maret Kirsipuu

    2014-01-01

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

  16. Description of an injury in a human caused by a false tocandira (Dinoponera gigantea, Perty, 1833) with a revision on folkloric, pharmacological and clinical aspects of the giant ants of the genera Paraponera and Dinoponera (sub-family Ponerinae).

    Science.gov (United States)

    Haddad Junior, Vidal; Cardoso, João Luiz Costa; Moraes, Roberto Henrique Pinto

    2005-01-01

    The authors observed an injury caused by the sting of a false tocandira ant in the hand of an amateur fisherman and they describe the clinical findings and the evolution of the envenoming, which presented an acute and violent pain, cold sweating, nausea, a vomiting episode, malaise, tachycardia and left axillary's lymphadenopathy. About three hours after the accident, still feeling intense pain in the place of the sting, he presented an episode of great amount of blood in the feces with no history of digestive, hematological or vascular problems. The intense pain decreased after eight hours, but the place stayed moderately painful for about 24 hours. In that moment, he presented small grade of local edema and erythema. The authors still present the folkloric, pharmacological and clinical aspects related to the tocandiras stings, a very interesting family of ants, which presents the largest and more venomous ants of the world. PMID:16138209

  17. 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.

  18. 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.

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

    Science.gov (United States)

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

    2006-10-01

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

  20. 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

  1. Family Life

    Science.gov (United States)

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

  2. 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 ...

  3. 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 ...

  4. Family Arguments

    Science.gov (United States)

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

  5. Family Meals

    Science.gov (United States)

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

  6. Familial hypertriglyceridemia

    Science.gov (United States)

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

  7. 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…

  8. 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.

  9. 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。

  10. 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

  11. Familial hypercholesterolemia

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000392.htm Familial hypercholesterolemia To use the sharing features on this page, please enable JavaScript. Familial hypercholesterolemia is a disorder that is passed down through ...

  12. 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.

  13. Causes and Countermeasures of the Students with Difficulty in Family, Learning and Idea in Colleges and Universities%浅析高校“三困生”问题的成因及对策

    Institute of Scientific and Technical Information of China (English)

    胡晓璐

    2012-01-01

    在高校中,客观存在着或多或少的“家庭困难、学习困难、思想困惑”的“三困生”.他们极有可能是面临勉强毕业、难就业、退学等情况的高危学生群体,有的“三困生”甚至会做出极端的危害他人、社会的事情来(比如马加爵).因此,笔者认为,三国生问题已经成为一个复杂的社会问题,做好“三困生”工作,不仅是学生发展、学校稳定的要求,也是建设和谐社会的要求.目前高校的帮困体系以物质资助为主,“三困生”的脱困处于被动状态.本文着重分析三困生的成因,从内外因果关系上寻找主动脱困的方法.%In the universities, there are more or less students with difficulty in family, learning and idea, and these students may face difficulty in bare graduation, employment, and withdrawal and some of them may do some things which have extreme harm to others and society (like Ma Jiajue). Therefore, the author believed that this problem had become a complex social problem. To do well the work for these students is not only the requirement for the stable development of students, schools, and is also the requirement for building a harmonious society. The core of the current helping system in colleges and universities is only the material assistance, so the turnaround of these poor students is in a passive state. This paper analyzes the causes and tries to find the method to resolve this problems from the inside and outside causal relationship.

  14. Family therapy

    Directory of Open Access Journals (Sweden)

    Shaikh Altamash

    2013-01-01

    Full Text Available Another major force not letting us succeed in the treatment of diabetes remains right inside the patients home, their family members. Hence, it is important to know the perception of the close family members about this simple and strong tool in diabetes, ′insulin′. The drug is nearing its century, it has not fully being accepted gracefully even in todays electronic savvy society. So, we need to strongly discover the reason for its non-acceptance, while trials are out inventing new drugs. One vital thing that can change this attitude is increasing the understanding of this drug, insulin in depth to close people around the patient, the ′family′. Underestimating family′s perception about disease and treatment for diabetes is detrimental to both diseased and the doctor. This consists of a biopsychosocial model; biological, psychological and social factors. Family forms the most important part of it. The strategies in family therapy include psychodynamic, structural, strategic, and cognitive-behavioral component. Diabetes has and will continue to rise, so will be the treatment options. From the clinicians side its to fix fasting first but from patients its fix family first. Family therapy demonstrates the importance of insulin initiation and maintenance in insulin naive patients, and continuation for others. The specific needs of such patients and their impact on family life are met with family therapy. Who needs family therapy? Benefits of family therapy and a case based approach is covered.

  15. 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。

  16. Celibacy and Family Disruption

    OpenAIRE

    Emaletdinov B. M.

    2013-01-01

    Causes for celibacy, divorces and successful marriage are discussed in the article. Absence of true love and inability to build and keep it are the main reasons for family disruption. Amorousness, immature love and various forms of false or flawed love substitute the true feeling. It is caused by increased women’s independence, loss of mutual understanding and trust (due to infidelity or jealousy), incompatibility of characters or values. Celibacy is often conditioned by physical disability, ...

  17. Family Finance

    OpenAIRE

    Christopher Kobrak

    2008-01-01

    As Mira Wilkins has argued, there is a curious disconnect between business and financial history. (Wilkins, 2003) Whereas business history literature has rediscovered the importance of family business in many countries and in many sectors of contemporary commercial life, for example, little has been written about family banking as an alternative to joint-stock, management-run financial institutions. This lacuna is odd for many reasons. First, family banking is one of the best-known examples o...

  18. 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

  19. 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....

  20. 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....

  1. 浅析流动人口子女家庭教育问题成因及对策——基于社会保障理论视角%Analysis of Causes and Solutions of Family Education Problem of Children of Floating PopulationBased on the Angle of Social Security Theory

    Institute of Scientific and Technical Information of China (English)

    王炳锐; 吴莹

    2012-01-01

    流动人口子女家庭教育问题是人口涌入城市、组成家庭后必然出现的教育问题,也是一种社会问题。实际上,家庭保障既是导致问题形成的直接因素,又是社会保障的一部分。文章仅从社会保障理论视角具体分析流动人口子女家庭教育问题成因,并拟从家庭保障、住房保障和教育救助等不同角度,解读社会保障如何为流动人口子女的家庭教育护航——即提出问题解决对策。%The family education problem of children of floating population is an educational problem which inevitably emerges after population's flowing over into cities and forming families, which is also a kind of social problem. Actually, family security is a direct cause of the problem, as well as one part of social security. This paper analyzes causes of family education problem of children of floating population from the angle of social security theory, and plans to interpret how social security convoys for family education of children of floating population, i.e. proposing solutions from different angles of family security, housinR security and education aid.

  2. 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…

  3. Assessing The Single-Parent Family

    OpenAIRE

    Christie-Seely, Janet; Talbot, Yves

    1985-01-01

    The increase of single-parent families causes an increase in psychosocial problems and illness associated with stress. Divorce, separation, and lone parenting have now surpassed death as a cause of single-parent families. They are major life events, and the family physician who helps anticipate them and facilitates adaptation of the family can help prevent associated morbidity and mortality. A non-judgmental approach and understanding of system theory helps in assessing the single-parent fami...

  4. Subcutaneous phaeohyphomycosis in a patient with IgG4-related sclerosing disease caused by a novel ascomycete, Hongkongmyces pedis gen. et sp. nov.: first report of human infection associated with the family Lindgomycetaceae.

    Science.gov (United States)

    Tsang, Chi-Ching; Chan, Jasper F W; Trendell-Smith, Nigel J; Ngan, Antonio H Y; Ling, Ian W H; Lau, Susanna K P; Woo, Patrick C Y

    2014-10-01

    No members of the freshwater ascomycetes family Lindgomycetaceae have been associated with human infections. We isolated a mould (HKU35(T)) from the biopsy specimen of a patient with invasive foot infection and underlying immunoglobulin G4-related sclerosing disease. Histology showed florid, suppurative, granulomatous inflammation in the dermis, with central microabscess formation surrounded by epithelioid histiocytes, scattered giant cells, and a small number of lymphocytes. A Grocott stain revealed fungal elements in the center of the lesion. On Sabouraud glucose agar, HKU35(T) grew as gray and velvety colonies. Among the members of the family Lindgomycetaceae, HKU35(T) was the only strain that grew at 37°C. Microscopically, only sterile mycelia, but no fruiting bodies, were observed. HKU35(T) was susceptible to itrazonazole, voriconazole, and posaconazole, which was in line with the patient's clinical response to itraconazole treatment. Internal transcribed spacer and partial 18S nuclear rDNA (nrDNA), 28S nrDNA, β-tubulin gene, and EF1α gene sequencing showed that HKU35(T) occupied a unique phylogenetic position, most closely related to but distinct from members of the genera Clohesyomyces and Lindgomyces. We propose a new genus and species, Hongkongmyces pedis gen. et sp. nov., to describe this fungus, which belongs to the family Lindgomycetaceae in the orderPleosporales of class Dothideomycetes. This case also represents the first report of human infection associated with the family Lindgomycetaceae. PMID:25147085

  5. Family Potyviridae

    Science.gov (United States)

    The International Committee on the Taxonomy of Viruses potyvirus study group has revised the description of the family Potyviridae for inclusion in the ICTV 9th report. Characteristic features of each genus within the family is presented. Revised criteria for demarcation and nomenclature of viral sp...

  6. Familial Endometriosis

    OpenAIRE

    Lichtblau, Steven

    1986-01-01

    Although it has been suspected that endometriosis has familial tendencies, systemic studies have not been conducted until relatively recently. The inheritence is not a monogenic, but rather a polygenic multi-factorial process. A case is presented and the clinical significance of the familial endometriosis is discussed.

  7. 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

  8. FAMILY RHAGIONIDAE.

    Science.gov (United States)

    Santos, Charles Morphy D; Carmo, Daniel D D

    2016-01-01

    The family Rhagionidae is one of the oldest Brachyeran lineages. Its monophyly is still uncertain. There are four rhagionid genera distributed in Neotropical Region but only three species of Chrysopilus are found in Colombia. PMID:27395270

  9. Family 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< = 0.05) or nearly so (p = 0.07) in each case showing higher scores for spouses to be associated with higher CRIES and CBCL total...

  10. Na+,K+ pumpen vedbliver at overraske

    DEFF Research Database (Denmark)

    Vilsen, Bente

    2008-01-01

    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...

  11. 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.

  12. 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

  13. Family welfare.

    Science.gov (United States)

    Sinha, N K

    1992-01-01

    Between 1901-1921, India gained 12.9 million people because mortality remained high. The death rate fell between 1921-1951, but birth rates remained the same. Therefore 110 million people were added--2 times the population increase between 1891-1921. Between 1951-1981, the population increased to 324 million. Socioeconomic development was responsible for most of the downward trend in the birth rate during the 20th century. Even though large families were the norm in early India, religious leaders encouraged small family size. The 1st government family planning clinics in the world opened in Mysore and Bangalore in 1930. Right before Independence, the Bhore Committee made recommendations to reduce population growth such as increasing the age of marriage for girls. Since 1951 there has been a change in measures and policies geared towards population growth with each of the 7 5-Year Plans because policy makers applied what they learned from each previous plan. The 1st 5-Year Plan emphasized the need to understand what factors contribute to population growth. It also integrated family planning services into health services of hospitals and health centers. The government was over zealous in its implementation of the sterilization program (2nd 5-Year Plan, 1956-1961), however, which hurt family planning programs for many years. As of early 1992, sterilization, especially tubectomy, remained the most popular family planning method, however. The 7th 5-Year Plan changed its target of reaching a Net Reproductive Rate of 1 by 2001 to 2006-2011. It set a goal of 100% immunization coverage by 1990 but it did not occur. In 1986, the Ministry of Health and Family Welfare planned to make free contraceptives available in urban and rural areas and to involve voluntary organizations. The government needs to instill measures to increase women's status, women's literacy, and age of marriage as well as to eliminate poverty, ensure old age security, and ensure child survival and

  14. 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.

  15. 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 ...

  16. 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...

  17. The characteristic appearance and analysis of H reflex in lower extremity of hemiplegic patients with post-stroke%脑卒中后偏瘫患者下肢H反射的特征表现

    Institute of Scientific and Technical Information of China (English)

    李红玲; 徐凌娇; 潘拴珍; 王淑英

    2011-01-01

    目的:通过研究脑卒中后偏瘫患者下肢H反射的特征表现及其与偏瘫下肢肢体功能评定的关系,探讨H反射在脑卒中后偏瘫患者神经电生理评定中的应用价值.方法:选择脑卒中恢复期偏瘫患者40例,分别对患者双侧胫神经和腓总神经所支配的腓肠肌和胫骨前肌进行H反射检查,并对患侧下肢给予临床痉挛指数(CSI)评定.计算胫神经和腓总神经H反射的引出率,并对其所引出的H反射结果以及与CSI的相关性进行比较和分析.结果:患者双侧胫神经所支配的腓肠肌H反射引出率100%,胫骨前肌H反射引出率为10%.患侧胫神经H反射潜伏期平均为(30.09±1.87 )ms;非患侧胫神经H反射潜伏期平均为(31.99±2.31 )ms.患侧胫神经Hmax/Mmax比值均数中位数平均为0.476;非患侧胫神经Hmax/Mmax比值平均为0.189.患侧与非患侧相比,患侧H反射潜伏期缩短,Hmax/Mmax比值增大,且差异有显著性意义(P<0.05).将患侧下肢胫神经H反射潜伏期分别与CSI进行Spearman 秩相关检验,结果显示患侧下肢胫神经H反射潜伏期与CSI不相关,而患侧下肢胫神经Hmax/Mmax比值与CSI存在秩相关关系.结论:用H反射来评价脑卒中后偏瘫患者患侧痉挛的存在和严重程度,比CSI量表更客观、量化.其中Hmax/Mmax 比值是评估下运动神经元兴奋性的较好指标.%Objective: To investigate the value of application of H reflex in electrophysiological evaluation by studying relationship between the characteristic appearance of H reflex and functional assessment of affected lower extremity of hemiplegic patients post-stroke.Method: Forty hemiplegic inpatients in post-stroke convalescence stage were in various severities of limb dysfunction. The H reflex examination was administered on gastrocnemius (GS) innervated by tibial nerve and tibialis anterior (TA) innervated by common peroneal nerve of patients' extremities of both sides. At the same time, affected

  18. Family therapy.

    OpenAIRE

    Shaikh Altamash

    1987-01-01

    Another major force not letting us succeed in the treatment of diabetes remains right inside the patients home, their family members. Hence, it is important to know the perception of the close family members about this simple and strong tool in diabetes, ′insulin′. The drug is nearing its century, it has not fully being accepted gracefully even in todays electronic savvy society. So, we need to strongly discover the reason for its non-acceptance, while trials are out inventing new drugs. One ...

  19. Family business

    OpenAIRE

    KLUZÁKOVÁ, Lucie

    2012-01-01

    This thesis focuses on family business companies and above all on their problem of succession planning. For the purposes of this work, I have chosen a family business company that is owned by two shareholders. Both shareholders are going to leave the company within next 5 to 10 years. The thesis deals with the succession plan of both shareholders and this concerning the rate of preparedness as well as the rate of coordination of both plans. Prior to the research, two hypotheses were fixed. Th...

  20. 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.

  1. Familial hyperamylasemia

    Directory of Open Access Journals (Sweden)

    Koda Yu Kar Ling

    2002-01-01

    Full Text Available A 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family members were normal in his father and maternal grandmother but elevated in his mother, sister, maternal aunt, and uncle, all of whom asymptomatic. Macroamylasemia was excluded in the child and in the mother. The finding of persistently elevated amylasemia in the child and in the other family members spanning 3 generations, and the exclusion of diseases that lead to hyperamilasemia are consistent with the diagnosis of familial hyperamylasemia. Until now, only 1 similar case has been reported. Familial hyperamylasemia must be considered in the differential diagnosis of hyperamylasemias in childhood.

  2. Familial hyperamylasemia.

    Science.gov (United States)

    Koda, Yu Kar Ling; Vidolin, Eliana

    2002-01-01

    A 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family members were normal in his father and maternal grandmother but elevated in his mother, sister, maternal aunt, and uncle, all of whom asymptomatic. Macroamylasemia was excluded in the child and in the mother. The finding of persistently elevated amylasemia in the child and in the other family members spanning 3 generations, and the exclusion of diseases that lead to hyperamilasemia are consistent with the diagnosis of familial hyperamylasemia. Until now, only 1 similar case has been reported. Familial hyperamylasemia must be considered in the differential diagnosis of hyperamylasemias in childhood. PMID:11981589

  3. 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...... designate the result as family genericity. The presented language design has been implemented....

  4. Family History

    Science.gov (United States)

    ... risky behaviors (such as smoking) and increasing healthy behaviors (such as regular exercise). Learn more about heart attacts. Q: How can knowing my family health history help lower my risk of disease? A: You ... you can change behaviors that affect your health, such as smoking, inactivity ...

  5. Family Hypnotherapy.

    Science.gov (United States)

    Araoz, Daniel L.; Negley-Parker, Esther

    1985-01-01

    A therapeutic model to help families activate experiential and right hemispheric functioning through hypnosis is presented in detail, together with a clinical illustration. Different situations in which this model is effective are mentioned and one such set of circumstances is described. (Author)

  6. 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.

  7. Caregiver roles in families affected by Huntington's disease

    DEFF Research Database (Denmark)

    Røthing, Merete; Malterud, Kirsti; Frich, Jan C

    2013-01-01

    impairments by taking on adult responsibilities, and in some families, a child had the role as main caregiver. The increasing need for care could cause conflicts between the role as family member and family caregiver. The burden of care within the family could fragment and isolate the family. CONCLUSIONS......AIM: The objective of this study was to explore family caregivers' experiences with the impact of Huntington's disease (HD) on the family structure and roles in the family. METHODOLOGY: We interviewed 15 family caregivers in families affected by HD, based on a semi-structured interview guide. The......: Huntington's disease has a major impact on family systems. Caregiver roles are shaped by impairments in the affected family member and corresponding dynamic adoption and change in roles within the family. Making assessments of the family structure and roles, professionals may understand more about how to...

  8. FAMILY BOMBYLIIDAE.

    Science.gov (United States)

    Lamas, Carlos José Einicker; Evenhuis, Neal L

    2016-01-01

    Bombyliidae is one of the largest Diptera families with more than 4,500 recognized species worldwide. Their species vary from robust to thin, and may be small to large (2-20mm) and looks like bees or wasps. They also present great variation in color. Adults can often be seen either resting and sunning themselves on trails, rocks or twigs or feeding on flowering plants as they are nectar feeders. All reared bee flies are predators or parasitoids of arthropods. The Colombian fauna of bombyliids comprises at the moment 22 species, and 12 genera, of which, six are endemic species. Nonetheless, this number may be much higher, as Colombia is a megadiverse country and there are not many specimens of this family deposited in collections all over the world. PMID:27395279

  9. Familial hyperamylasemia

    OpenAIRE

    Koda Yu Kar Ling; Vidolin Eliana

    2002-01-01

    A 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family memb...

  10. Familial hypercholesterolemia

    OpenAIRE

    Lahiri Koushik; Lahiri Bhabesh Chandra

    2001-01-01

    Familial hypercholesterolemia is a common, inherited disorder of cholesterol metabolism that leads to early cardiovascular morbidity and mortality. It is underdiagnosed and undertreated. Statins, ezetimibe, bile acid sequestrants, niacin, lomitapide, mipomersen and LDL apheresis are treatments that can lower LDL cholesterol levels. Early treatment can lead to substantial reduction of cardiovascular events and death in patients with FH. It is important to increase awareness of this disorder in...

  11. 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...... features, and the genetic and epigenetic profiles of the familial colorectal cancer type X (FCCTX) syndrome with the aim to delineate tumor characteristics that may contribute to refined diagnostics and optimized tumor prevention....

  12. Characteristics of family firms with family management

    OpenAIRE

    Søndergaard, Kathrine Lærke; Almli, Line Floan

    2012-01-01

    In this paper we examine what characterizes family firms’ decisions when it comes to having a family member being the CEO or the chairman of the board of the company. We define this as family management, which is the dependent variable in our research. This variable has four non-ordered mutually exclusive values; family CEO, family chairman of the board, family CEO and family chairman of the board, and neither family CEO nor family chairman of the board. Using data from the Center for Corpora...

  13. Family conflict tendency and ADHD.

    Science.gov (United States)

    Niederhofer, H; Hackenberg, B; Lanzendörfer, K

    2004-04-01

    A lack of perseverance, poor attention, and poorly modulated behaviour are important criteria of Attention Deficit Hyperactive Disorder (ADHD). Instructions often have to be repeated, sometimes even by different family members before a child with ADHD attends and complies. We hypothesised that a child with ADHD might cause less disagreement in families with almost no conflicts. Responses to the Mannheim Parents Interview and teacher's form of the Conners scale completed by families of 15 boys (ages 6 to 12 years), diagnosed with ADHD were compared with those of a matched, healthy control group of 15 boys. Parents completed a form assessing the family's cooperation and child-rearing practices. Having few family conflicts, i.e., almost no Verbal Disagreement may reduce Physical Punishment and Anger and Disregard and augment the Openness to another's needs and, for that reason, have protective effects on children's behaviour modulation. PMID:15154188

  14. Family unification within SO(15)

    International Nuclear Information System (INIS)

    We present a model for the unification of fermion families based on the gauge symmetry SO(15). It is a minimal SO(n) model which can accommodate the known fermions within a single irreducible representation. The model predicts four ordinary fermion families and four families of mirror fermions. The latter have V + A weak interactions, and their mass scale is predicted to be 102 GeV/c2. We argue that radiative corrections to the fermion masses can cause non-negligible mixing between ordinary and mirror fermions. The implications of these mixings for the weak interaction phenomenology and solar neutrinos are discussed. (orig.)

  15. A family planning paradigm.

    Science.gov (United States)

    Meldrum, A

    1994-01-01

    800 government-employed family planning community-based distributors distributed the pill throughout Zimbabwe's rural areas. The door-to-door service is one of the main factors that make Zimbabwe's family planning program successful. Zimbabwe boasts a contraceptive prevalence rate of 43% of adult women, considerably higher than Africa's average of 14%. This has caused Zimbabwe's total fertility rate to decline from 6.7 at Zimbabwe's independence (1980) to 5.3 in 1994. The total fertility rate for sub-Saharan Africa is 6.5. At independence, Zimbabwe's annual population growth rate was more than 3% and now it is down to 2.3%. Through the Zimbabwe National Family Planning Council, the government pays the salaries of the roving rural distributors. It is estimated that the government bears more than half the cost of the family planning council's budget of $2.5 million. During the war to end white minority rule in the 1970s, President Robert Mugabe's Zimbabwe African National Union was adamantly opposed to the population control efforts. However, in 1985, the shift toward encouraging smaller families was endorsed at the national convention of Mugabe's party. In 1981, about 14% of women were using modern contraceptive methods. By 1988, up to 36%, and a new survey shows that 45% are currently using contraceptives. The family planning council has also launched a Male Motivation Campaign enlisting endorsements from Zimbabwe's popular national soccer team. Zimbabwe has seen a dramatic increase in condom use as a protective measure against AIDS. Currently more than 800,000 Zimbabweans are HIV positive. There are some opponents to Zimbabwe's encouragement of family planning, chiefly the Roman Catholic Church, which claims about 1 million adherents in Zimbabwe. A full range of birth control methods is offered by the family planning council, including diaphragms, IUDs, injectables, implants, and surgical tubal ligations. The pill is used by more than 70% of Zimbabwean women

  16. 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

  17. Influence of Head Acupuncture with Exercise Therapy on SEP Treating Hemiplegic Patient Due to Stroke%头针运动疗法对卒中偏瘫患者体感诱发电位的影响

    Institute of Scientific and Technical Information of China (English)

    李小军; 胡彩虹; 柳文丹; 王玲玲; 郑斌; 王潇依

    2012-01-01

    Objective:The influence of head acupuncture with exercise therapy on rehabilitation of hemiplegic patients due to stroke was observed to optimize the rehabilitation treatment of stroke. Methods; 150 acute stroke cases with stable vital signs and neurological signs without progress were selected and divided into three groups randomly, each group contained 50 cases. Head acupuncture with synchronous exercise therapy, exercise therapy after head acupuncture and head acupuncture after exercise therapy, these three treatments were used in groups respectively. After treating 4 weeks, SEP changes was the objective index as well as the Simple Fugl - Meyer score, Barthel index and neurological deficit scores. Results; After treating 4 weeks, the Fugl - Meyer score and Barthel index in three groups all had been higher and increased the N20 amplitude of SEP on the affected side, showing significant differences compared before treatment (P < 0.001). Compared with control I group and control II group, the increases of Fugl - Meyer score,Barthel index and N20 amplitude of SEP were obviously significant (P < 0.001). The treating marked effective rate of treatment group was higher than that of control I group and control II group (P < 0.05). Conclusion: It is more effective to recover brain functions of hemiplegic patients due to stroke with head acupuncture and synchronous exercise therapy.%目的:观察头针同步进行运动疗法对脑卒中后偏瘫患者康复的影响,优化脑卒中的中西医结合康复治疗方案.方法:选择150例生命体征稳定,神经病学体征不再进展的急性脑卒中患者,随机分为3组,每组各50例,分别采用头针留针时同步进行运动疗法、先头针后进行运动疗法和先运动疗法后进行头针疗法.治疗4周后,以体感诱发电位(SEP)波幅变化为客观指标以及采用简式Fugl - Meyer评分、Barthel指数、神经功能缺损程度评分作为评定标准进行统计学处理.结果:治疗4

  18. Family pediatrics: report of the Task Force on the Family.

    Science.gov (United States)

    Schor, Edward L

    2003-06-01

    their basic needs. Children's needs for which only a family can provide include social support, socialization, and coping and life skills. Their self-esteem grows from being cared for, loved, and valued and feeling that they are part of a social unit that shares values, communicates openly, and provides companionship. Families transmit and interpret values to their children and often serve as children's connection to the larger world, especially during the early years of life. Although schools provide formal education, families teach children how to get along in the world. Often, efforts to discuss families and make recommendations regarding practice or policy stumble over disagreements about the definition of a family. The task force recognized the diversity of families and chose not to operate from the position of a fixed definition. Rather, the task force, which was to address pediatrics, decided to frame its deliberations and recommendations around the functions of families and how various aspects of the family context influence child rearing and child health. One model of family functioning that implicitly guided the task force is the family stress model (Fig 1). Stress of various sorts (eg, financial or health problems, lack of social support, unhappiness at work, unfortunate life events) can cause parents emotional distress and cause couples conflict and difficulty with their relationship. These responses to stress then disrupt parenting and the interactions between parent and child and can lead to short-term or lasting poor outcomes. The earlier these events transpire and the longer that the disruption lasts, the worse the outcomes for children. The task force favors efforts to encourage and support marriage yet recognizes that every family constellation can produce good outcomes for children and that none is certain to yield bad ones. (ABSTRACT TRUNCATED) PMID:12777595

  19. The mechanism of functional up-regulation of P2X3 receptors of trigeminal sensory neurons in a genetic mouse model of familial hemiplegic migraine type 1 (FHM-1.

    Directory of Open Access Journals (Sweden)

    Swathi K Hullugundi

    Full Text Available A knock-in (KI mouse model of FHM-1 expressing the R192Q missense mutation of the Cacna1a gene coding for the α1 subunit of CaV2.1 channels shows, at the level of the trigeminal ganglion, selective functional up-regulation of ATP -gated P2X3 receptors of sensory neurons that convey nociceptive signals to the brainstem. Why P2X3 receptors are constitutively more responsive, however, remains unclear as their membrane expression and TRPV1 nociceptor activity are the same as in wildtype (WT neurons. Using primary cultures of WT or KI trigeminal ganglia, we investigated whether soluble compounds that may contribute to initiating (or maintaining migraine attacks, such as TNFα, CGRP, and BDNF, might be responsible for increasing P2X3 receptor responses. Exogenous application of TNFα potentiated P2X3 receptor-mediated currents of WT but not of KI neurons, most of which expressed both the P2X3 receptor and the TNFα receptor TNFR2. However, sustained TNFα neutralization failed to change WT or KI P2X3 receptor currents. This suggests that endogenous TNFα does not regulate P2X3 receptor responses. Nonetheless, on cultures made from both genotypes, exogenous TNFα enhanced TRPV1 receptor-mediated currents expressed by a few neurons, suggesting transient amplification of TRPV1 nociceptor responses. CGRP increased P2X3 receptor currents only in WT cultures, although prolonged CGRP receptor antagonism or BDNF neutralization reduced KI currents to WT levels. Our data suggest that, in KI trigeminal ganglion cultures, constitutive up-regulation of P2X3 receptors probably is already maximal and is apparently contributed by basal CGRP and BDNF levels, thereby rendering these neurons more responsive to extracellular ATP.

  20. [Relapse: causes and consequences].

    Science.gov (United States)

    Thomas, P

    2013-09-01

    Relapse after a first episode of schizophrenia is the recurrence of acute symptoms after a period of partial or complete remission. Due to its variable aspects, there is no operational definition of relapse able to modelise the outcome of schizophrenia and measure how the treatment modifies the disease. Follow-up studies based on proxys such as hospital admission revealed that 7 of 10 patients relapsed after a first episode of schizophrenia. The effectiveness of antipsychotic medications on relapse prevention has been widely demonstrated. Recent studies claim for the advantages of atypical over first generation antipsychotic medication. Non-adherence to antipsychotic represents with addictions the main causes of relapse long before some non-consensual factors such as premorbid functioning, duration of untreated psychosis and associated personality disorders. The consequences of relapse are multiple, psychological, biological and social. Pharmaco-clinical studies have demonstrated that the treatment response decreases with each relapse. Relapse, even the first one, will contribute to worsen the outcome of the disease and reduce the capacity in general functionning. Accepting the idea of continuing treatment is a complex decision in which the psychiatrist plays a central role besides patients and their families. The development of integrated actions on modifiable risk factors such as psychosocial support, addictive comorbidities, access to care and the therapeutic alliance should be promoted. Relapse prevention is a major goal of the treatment of first-episode schizophrenia. It is based on adherence to the maintenance treatment, identification of prodromes, family active information and patient therapeutical education. PMID:24084426

  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. Reclaiming Family Privilege

    Science.gov (United States)

    Seita, John

    2012-01-01

    The pull for family is strong, almost primeval, most likely it is evolutionary, and for those lacking the benefit of family or Family Privilege, the loss of family is painful and profoundly sad. Young people who struggle to cope without stable family connections are profoundly aware of their lack of "Family Privilege." In this article, the author…

  3. Credentialing Caregivers. Families Matter.

    Science.gov (United States)

    Dean, Christiana

    The Families Matter series of papers from the Harvard Family Research Project advances the concept of family-centered child care, advocating an approach to early childhood education that addresses the development of the child and family together. Grounded in family support principles, which build on family strengths and work from a community's…

  4. Family Psychology and Family Therapy in Japan.

    Science.gov (United States)

    Kameguchi, Kenji; Murphy-Shigematsu, Stephen

    2001-01-01

    Reviews the development of family psychology and family therapy in Japan, tracing the origins of these movements, explaining how these fields were activated by the problem of school refusal, and describing an approach to family therapy that has been developed to work with families confronting this problem, as well as preventive programs of family…

  5. Family Law and Family Studies: Professor's Views

    Science.gov (United States)

    Hicks, Mary W.; And Others

    1977-01-01

    The results of a survey of family studies faculty concerning the inclusion of family law topics in family studies courses are discussed. The professor's needs for training and resources in the area of family and the law are identified and recommendations for meeting these needs are suggested. (Author)

  6. 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)

  7. Genetics Home Reference: familial encephalopathy with neuroserpin inclusion bodies

    Science.gov (United States)

    ... Home Health Conditions FENIB familial encephalopathy with neuroserpin inclusion bodies Enable Javascript to view the expand/collapse ... All Close All Description Familial encephalopathy with neuroserpin inclusion bodies ( FENIB ) is a disorder that causes progressive ...

  8. Senile Dementia and Family Medicine

    OpenAIRE

    Sawa, Russell J.

    1981-01-01

    Senile dementia is an increasingly important disease in family medicine, because our population is growing old. Dementia can have many causes, some of which are reversible. Its definition varies with time, discipline, and country. Correctly diagnosing reversible dementing processes as early as possible may lead to reversal of an otherwise devastating process. This article discusses definition and diagnosis of senile dementia.

  9. TRANSFORMATION OF FAMILY IN MODERN RUSSIAN SOCIETY

    OpenAIRE

    Olga Anatolevna Otradnova

    2014-01-01

    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 c...

  10. Transformation of family in modern Russian society

    OpenAIRE

    Отраднова, Ольга

    2013-01-01

    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 conc...

  11. Familial aggregation analysis of gene expressions

    OpenAIRE

    Rao Shao-Qi; Xu Liang-De; Zhang Guang-Mei; Li Xia; Li Lin; Shen Gong-Qing; Jiang Yang; Yang Yue-Ying; Gong Bin-Sheng; Jiang Wei; Zhang Fan; Xiao Yun; Wang Qing K

    2007-01-01

    Abstract Traditional studies of familial aggregation are aimed at defining the genetic (and non-genetic) causes of a disease from physiological or clinical traits. However, there has been little attempt to use genome-wide gene expressions, the direct phenotypic measures of genes, as the traits to investigate several extended issues regarding the distributions of familially aggregated genes on chromosomes or in functions. In this study we conducted a genome-wide familial aggregation analysis b...

  12. What Causes Angina?

    Science.gov (United States)

    ... this page from the NHLBI on Twitter. What Causes Angina? Underlying Causes Angina usually is a symptom of coronary heart ... and cause angina or a heart attack . Immediate Causes Many factors can trigger angina pain, depending on ...

  13. What Causes Lymphocytopenia?

    Science.gov (United States)

    ... low lymphocyte counts with no underlying cause. Acquired Causes Many acquired diseases, conditions, and factors can cause ... anemia . Radiation and chemotherapy (treatments for cancer). Inherited Causes Certain inherited diseases and conditions can lead to ...

  14. What Causes Cardiogenic Shock?

    Science.gov (United States)

    ... this page from the NHLBI on Twitter. What Causes Cardiogenic Shock? Immediate Causes Cardiogenic shock occurs if the heart suddenly can' ... reason why emergency treatment is so important. Underlying Causes The underlying causes of cardiogenic shock are conditions ...

  15. Opinions of Family Physicians about Family Counseling

    Directory of Open Access Journals (Sweden)

    Kenan Taştan1

    2016-04-01

    Full Text Available Objective: As of mission, Family physician is responsible for all the health problems of the family members. In this sense, it is necessary to counsel individuals and families in need. In this study, it is aimed to evaluate the knowledge and thoughts of family physicians about family counseling in Turkey. Methods: The Research was conducted among the family physicians working in Turkey in 2013. In order to get demographic characteristics, opinions and suggestions of the family physicians about family counseling, a questionnaire was developed by the researchers. The survey was administered to the participants via the internet. Data from 421 participants were evaluated. Results: The mean age of participants was 41.7 ± 7.2 years. 67.1% of them were male and 32.9% female. Of the participants, while 11.3% stated that they received training in family counseling, 88.7% stated not received. When the frequency of family counseling need was questioned, 3.4% of the participants pointed out that they have never needed, 44% is rarely needed, 39.9% frequently needed, 12.7% very frequently needed. Of the family physicians, while 21.7% was thinking that they are competent about solving family problems, 78.3% was not competent. Meanwhile, 76.3% of family physicians wanted to have training on the family counseling, while 23.7% stated that they do not want. Conclusion: It was found that there is a shortage of training of the family physicians on the subject of family counseling. In order to compensate this shortage, it would be beneficial to include the subject of family counseling in the curriculum of medical faculty and arrange in-service training to the family doctors working in the primary care.

  16. Unemployment as a Destructive Factor in Family Education

    OpenAIRE

    ANNA MARZEC-TARASIŃSKA

    2011-01-01

    Unemployment in Poland s one of the main factors causing problems in the process of upbringing. It is also the main reason for constant growth of poverty and process of marginalization of many families in Polish society. Family is a basic and irreplaceable environment for a child. It is not child's choice what sort of family she/he was born into, however family situation and environment started to influence a child, from very beginning. Well functioning family, where the social...

  17. [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…

  18. On the Astrid asteroid family

    Science.gov (United States)

    Carruba, V.

    2016-09-01

    Among asteroid families, the Astrid family is peculiar because of its unusual inclination distribution. Objects at a ≃ 2.764 au are quite dispersed in this orbital element, giving the family a `crab-like' appearance. Recent works showed that this feature is caused by the interaction of the family with the s - sC nodal secular resonance with Ceres, that spreads the inclination of asteroids near its separatrix. As a consequence, the currently observed distribution of the vW component of terminal ejection velocities obtained from inverting Gauss equation is quite leptokurtic, since this parameter mostly depends on the asteroids inclination. The peculiar orbital configuration of the Astrid family can be used to set constraints on key parameters describing the strength of the Yarkovsky force, such as the bulk and surface density and the thermal conductivity of surface material. By simulating various fictitious families with different values of these parameters, and by demanding that the current value of the kurtosis of the distribution in vW be reached over the estimated lifetime of the family, we obtained that the thermal conductivity of Astrid family members should be ≃0.001 W m-1 K-1, and that the surface and bulk density should be higher than 1000 kg m-3. Monte Carlo methods simulating Yarkovsky and stochastic Yarkovsky-O'Keefe-Radzievskii-Paddack (YORP) evolution of the Astrid family show its age to be T = 140 ± 30 Myr old, in good agreement with estimates from other groups. Its terminal ejection velocity parameter is in the range V_{EJ}= 5^{+17}_{-5} m s-1. Values of VEJ larger than 25 m s-1 are excluded from constraints from the current inclination distribution.

  19. The characteristic appearance and analysis of H reflex in hemiplegic upper extremity patients with post-stroke%H反射在脑卒中后上肢偏瘫患者中的特征表现及分析

    Institute of Scientific and Technical Information of China (English)

    李红玲; 徐凌娇; 岳崴; 刘春辉; 潘拴针; 王淑英

    2012-01-01

    Objective: To investigate the valuable application of H reflex in electrophysiological evaluation by study of the relationship between the characteristic appearance of H reflex and muscular tone of affected side in upper extremity of hemiplegic patients post-stroke.Method: Forty-two hemiplegic inpatients with post-stroke in convalescence stage who fulfilled the study entry criteria were in various levels of upper extremity dysfunction. The H reflex examination was given to abductor polli- cis brevis (APB) dominanted by median nerve, abductor digiti minimi (ADM) dominanted by ulnar nerve, extensor digitorum communis dominanted by radial nerve of the patients' both affected and unaffected sides. At the same time, affected upper extremity was assessed by modified Ashworth scale (MAS), to determine whether H reflex could be easily obtained from all the nerves above mentioned. Then the changes in H reflex latencies and ratios of Hmax/Mmax of both sides were compared; the correlation between MAS and H reflex latency and Hmax/Mmax ratio in affected upper extremities were analysed.Result: H reflex was easily obtained from APB dominanted by median nerve, ADM dominanted by ulnar nerve of both sides, and the elicitation rates were 100%. But elicitation rate of extensor digitorum communis dominanted by radial nerve was only 7.14%. The mean (SD) H reflex latencies for medium nerve and ulnar nerve of affected sides were (25.89 ± 3.66)ms and (25.71 ± 3.26)ms respectirely, and those of unaffected sides were (26.60 ± 3.1 l)ms and (26.44 ± 2.87)ms recpectively. The medians of Hmax/Mmax ratio value for the median nerve and ulnar nerve of affected sides were 0.185 and 0.217 respectively, and those of unaffected sides were 0.126 and 0.112 respectively. The H reflex latency reduced and the Hmax/Mmax ratio increased in affected side comparing with unaffected side for median nerve and ulnar nerve, and the differences of both sides were statistically significant(P<0.05). By using

  20. Do daughters really cause divorce? Stress, pregnancy, and family composition.

    Science.gov (United States)

    Hamoudi, Amar; Nobles, Jenna

    2014-08-01

    Provocative studies have reported that in the United States, marriages producing firstborn daughters are more likely to divorce than those producing firstborn sons. The findings have been interpreted as contemporary evidence of fathers' son preference. Our study explores the potential role of another set of dynamics that may drive these patterns: namely, selection into live birth. Epidemiological evidence indicates that the characteristic female survival advantage may begin before birth. If stress accompanying unstable marriages has biological effects on fecundity, a female survival advantage could generate an association between stability and the sex composition of offspring. Combining regression and simulation techniques to analyze real-world data, we ask, How much of the observed association between sex of the firstborn child and risk of divorce could plausibly be accounted for by the joint effects of female survival advantage and reduced fecundity associated with unstable marriage? Using data from the National Longitudinal Survey of Youth (NLSY79), we find that relationship conflict predicts the sex of children born after conflict was measured; conflict also predicts subsequent divorce. Conservative specification of parameters linking pregnancy characteristics, selection into live birth, and divorce are sufficient to generate a selection-driven association between offspring sex and divorce, which is consequential in magnitude. Our findings illustrate the value of demographic accounting of processes which occur before birth-a period when many outcomes of central interest in the population sciences begin to take shape. PMID:25024115

  1. Do Daughters Really Cause Divorce? Stress, Pregnancy, and Family Composition

    OpenAIRE

    Hamoudi, Amar; Nobles, Jenna

    2014-01-01

    Provocative studies have reported that in the United States, marriages producing firstborn daughters are more likely to divorce than those producing firstborn sons. The findings have been interpreted as contemporary evidence of fathers' son preference. Our study explores the potential role of another set of dynamics that may drive these patterns: namely, selection into live birth. Epidemiological evidence indicates that the characteristic female survival advantage may begin before birth. If s...

  2. 孤儿家庭支持功能缺失的心理应对研究——以玉树地震致孤儿童为例%How to Enhance Psychological Assistance of the Young Orphans Lacking of Family Supporting ---By the Case of Young Orphans Caused by the Yushu Earthquake

    Institute of Scientific and Technical Information of China (English)

    颜农秋; 王建民; 祁乐平

    2012-01-01

    The orphans' health and socialization process is directly influenced by the losing of the family supporting functions and tending environment,which becomes an urgent issue in the practical assistance to the orphans caused by earthquake. The psychological assistance strategies of orphan, which takes enhancing the internal psychological dynamic mechanism and the external motivating conditions of orphan as the foundation point, is a rational check and innovative research result based on the current set of three placement models of the orphans caused by the Yushu Earthquake, and it meets the orphan's socialization development needs.%孤儿家庭支持功能缺失直接影响到孤几的心理健康及其正常的社会化过程,这已成为地震孤儿救助实践中亟需解决的突出问题。以增强孤儿内在心理动力机制和外在促动条件为根本点的孤儿心理援助策略,是针对当前玉树地震致孤儿童安置模式的理性审视与创新研究的结果,它顺应了孤儿心理及社会化发展的需求。

  3. 偏瘫型脑瘫儿童肢体差异与功能状况的相关性研究%The Study for Association between Function and Growth Discrepancies in Children with Hemiplegic Cerebral Palsy

    Institute of Scientific and Technical Information of China (English)

    李韶辉; 李茂清; 江兴妹; 吴恩泽

    2016-01-01

    目的:评估偏瘫型脑瘫(HCP)儿童双侧肢体差异,并探讨差异与患者年龄段相匹配的功能状况的相关性。方法:测量30位HCP儿童受影响侧与未受影响侧肢体8项实验指标与运动、认知多个功能状态指标,采用统计学软件分析实验指标与功能状态指标之间的相关性。结果:受影响的偏瘫侧肢体长度较未受影响的肢体长度偏短,肌力与手宽(HW)、腿长(FL)、大腿围(TC)指标呈负相关, UPRS与上肢总长(ULTL)、手长(HL)指标呈负相关,粗大运动功能(GMFM)与ULTL、HL、HW、FL指标呈负相关。结论:肢体差异程度在HCP儿童发育中起到重要的作用,可能对运动/社会参与功能起到很大的影响。%Objective: To evaluate side-to-side discrepancies in children with hemiplegic cerebral palsy (HCP), and investigate associations of these discrepancies with patients’ age at function.Method: We obtained information including eight indexes for experiment, initiation of physical therapy,motor and cognitive function, and degree of activities and social participation from 30 children with HCP.SPSS software was applied to analyze the association between indexes and function.Result: The affected side was shorter than unaffected side in HCP. Muscle strength was negative associated with HW, FL, TC, UPRS was negative associated with ULTL, HL, GMFM was negative associated with ULTL,HL,HW,FL.Conclusion:Discrepancy which plays a larger role in HCP children is associated with degree of activity/social participation.

  4. 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.

  5. 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

  6. Family Capital: Implications for Interventions with Families

    Science.gov (United States)

    Belcher, John R.; Peckuonis, Edward V.; Deforge, Bruce R.

    2011-01-01

    Social capital has been extensively discussed in the literature as building blocks that individuals and communities utilize to leverage system resources. Similarly, some families also create capital, which can enable members of the family, such as children, to successfully negotiate the outside world. Families in poverty confront serious…

  7. 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.

  8. Family Reunion Health Guide

    Science.gov (United States)

    ... can post this message as a note on Facebook, tagging family members and loved ones. You also may include ... gov . Planning Tip 2. | Develop a Family Reunion Facebook page and help family members stay in touch throughout the year. Share ...

  9. 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 ...

  10. 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 ...

  11. PSYCHOLOGY OF FAMILY BUSINESS

    OpenAIRE

    Taylyakova, Feruzahon

    2014-01-01

    This article analyzes the basic psychological characteristics of family businesses. The author describes the psychological properties that contribute to improve individual and family businesses. The article also discusses mental properties adversely affect the development of a family business.

  12. 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.

  13. Familial aggregation and heritability of pyloric stenosis

    DEFF Research Database (Denmark)

    Krogh, Camilla; Fischer, Thea K; Skotte, Line;

    2010-01-01

    first year of life, during which 3362 children had surgery for pyloric stenosis. MAIN OUTCOME MEASURE: Familial aggregation of pyloric stenosis, evaluated by rate ratios. RESULTS: The incidence rate (per 1000 person-years) of pyloric stenosis in the first year of life was 1.8 for singletons and 3.1 for......CONTEXT: Pyloric stenosis is the most common condition requiring surgery in the first months of life. Case reports have suggested familial aggregation, but to what extent this is caused by common environment or inheritance is unknown. OBJECTIVES: To investigate familial aggregation of pyloric...... strong familial aggregation and heritability....

  14. Screening Children for Familial Aortopathies: Tread With Caution.

    Science.gov (United States)

    Richer, Julie; Laberge, Anne-Marie

    2016-01-01

    The knowledge surrounding the genetic etiologies of familial aortopathies and familial thoracic aortic aneurysms and dissections has greatly expanded over the past few years. However, despite these advances, the underlying molecular etiology remains unidentified in most families with nonsyndromic familial aortopathies, and in a subset of families with syndromic aortopathies. In these families we cannot offer a genetic test to establish which family members are at risk. Although the general consensus has been to clinically follow all at-risk family members on the basis of family history, it remains unclear at the age at which to initiate clinical surveillance and the frequency which to screen asymptomatic relatives, whether or not a genetic etiology has been established in the family. These questions are particularly troublesome in a pediatric context where the risks of screening are potentially higher and the likelihood that such screening will provide immediate benefits is often lower than in adults. In this report we aim to: (1) provide clinicians with a framework within which to evaluate risks and benefits of screening asymptomatic pediatric patients for a family history of thoracic aortic aneurysms and dissections; and (2) provide a potential approach for patients (a) in whose family a disease-causing mutation has been identified, (b) patients in whose family the proband is syndromic, but does not have an identified disease-causing mutation, and (c) patients in whose family the proband is nonsyndromic and does not have an identified disease-causing mutation. PMID:26724511

  15. What Causes Raynaud's?

    Science.gov (United States)

    ... this page from the NHLBI on Twitter. What Causes Raynaud's? There are two main types of Raynaud’s— ... type of Raynaud's is often called Raynaud's phenomenon. Causes of Secondary Raynaud's Many things can cause secondary ...

  16. What Causes Thrombocytopenia?

    Science.gov (United States)

    ... this page from the NHLBI on Twitter. What Causes Thrombocytopenia? Many factors can cause thrombocytopenia (a low ... known for sure. Rare and Serious Conditions That Cause Blood Clots Some rare and serious conditions can ...

  17. What Causes Atherosclerosis?

    Science.gov (United States)

    ... this page from the NHLBI on Twitter. What Causes Atherosclerosis? The exact cause of atherosclerosis isn't known. However, studies show ... blood clots can worsen angina (chest pain) or cause a heart attack or stroke . Researchers continue to ...

  18. What Causes Hemochromatosis?

    Science.gov (United States)

    ... this page from the NHLBI on Twitter. What Causes Hemochromatosis? The two types of hemochromatosis are primary and secondary. Each type has a different cause. Primary Hemochromatosis Primary hemochromatosis is caused by a ...

  19. What Causes Aplastic Anemia?

    Science.gov (United States)

    ... this page from the NHLBI on Twitter. What Causes Aplastic Anemia? Damage to the bone marrow's stem ... system attacks its own cells by mistake. Acquired Causes Many diseases, conditions, and factors can cause aplastic ...

  20. Causes of Diabetes

    Science.gov (United States)

    ... Help for Diabetes Care Diabetes Statistics Causes of Diabetes What is diabetes? Diabetes is a complex group of diseases with ... and type 2 diabetes. What causes type 1 diabetes? Type 1 diabetes is caused by a lack ...

  1. What Causes Respiratory Failure?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Causes Respiratory Failure? Diseases and conditions that impair breathing can cause ... injure your lungs. Normal Lungs and Conditions Causing Respiratory Failure Figure A shows the location of the lungs, ...

  2. About Alzheimer's Disease: Causes

    Science.gov (United States)

    ... Project Act (NAPA) About ADEAR About Alzheimer's Disease: Causes Age-related changes in the brain Genetics Health, ... for the Causes of AD" NIA Information on Causes Alzheimer’s Disease in People with Down Syndrome Understanding ...

  3. Entrepreneurial Families : From a Family Enterprise to an Entrepreneurial Family

    OpenAIRE

    Sieger, Philipp; Zellweger, Thomas

    2013-01-01

    How do family firms succeed from generation to generation? While this is likely the most important question for the members of a family business, little is known about the central success factors in creating value across the generations. For this reason, our study aims to explore the secrets of family firms with a long, successful track record and to expand the current state of knowledge. In so doing, we want to look not only at «the family firm» but also broaden our scope to the entire entre...

  4. Families and family therapy in Hong Kong.

    Science.gov (United States)

    Tse, Samson; Ng, Roger M K; Tonsing, Kareen N; Ran, Maosheng

    2012-04-01

    Family therapy views humans not as separate entities, but as embedded in a network of relationships, highlighting the reciprocal influences of one's behaviours on one another. This article gives an overview of family demographics and the implementation of family therapy in Hong Kong. We start with a review of the family demographics in Hong Kong and brief notes on families in mainland China. Demographics show that the landscape has changed markedly in the past decade, with more cross-border marriages, an increased divorce rate, and an ageing overall population - all of which could mean that there is increasing demand for professional family therapy interventions. However, only a limited number of professionals are practising the systems-based approach in Hong Kong. Some possible reasons as to why family therapy is not well disseminated and practised are discussed. These reasons include a lack of mental health policy to support family therapy, a lack of systematic family therapy training, and a shortage of skilled professionals. Furthermore, challenges in applying the western model in Chinese culture are also outlined. We conclude that more future research is warranted to investigate how family therapy can be adapted for Chinese families. PMID:22515459

  5. Familial hypercholesterolemia in Brazil.

    Science.gov (United States)

    Dos Santos, J E; Zago, M A

    2003-11-01

    The Brazilian population has heterogeneous ethnic origins and is unevenly distributed in a country of continental dimensions. In addition to the Portuguese colonists until the end of the World War II Brazil received almost 5 million immigrants who settled mainly in the south and southeast. This features of the Brazilian population have two important consequences for the inherited diseases that are associated with an ethnic background: their frequencies are different in various regions of the country reflecting a variety of ethnic origins and variable degrees of admixtures. There was no report about the molecular basis of hypercholesterolemia in Brazil until our report in 1996 that the Lebanese allele is the most common cause of the disease in our country: 10 out of the 30 families were of Arab origin, and the Lebanese allele was detected in 9 of the 10 unrelated families of Arab origin. In addition, the abnormal gene is associated with the same haplotype at the LDL-R locus in all but one family, suggesting single origin for this mutation. Recently we described seven mutations in exons 4, 7, 12 and 14 and a new mutation in exon 15. In another region of our state, eight mutation already described and seven new mutations were described and interesting no common mutations were find. We can conclude that the complex history and structure of the Brazilian population, which was formed by the contribution of a large number of ethnic components that are in a state of increasing miscegenation, is reflected in the frequency and regional distribution of the more common hereditary diseases. PMID:14615271

  6. 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.

  7. Causes of Infertility

    Science.gov (United States)

    Infertility Causes of male infertility Causes of female infertility Infertility is clinically defined as the inability to conceive naturally after one year of frequent, unprotected intercourse. Approximately 7. ...

  8. 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.

  9. Job's story and family health.

    Science.gov (United States)

    Badalamenti, Anthony F

    2009-06-01

    This paper examines the book of Job for encoded psychological meaning. Its main conclusion is that the story imagery expresses a need to rectify fatherly and parental oblivion for a child who is the object of the destructive envy of a sibling. A family dynamic is constructed from the story's repeated emphasis of Job's blamelessness and the story's position that Satan both proposes and causes Job's sufferings. The emergent family model sees Job as representing a son, Satan an envious rival, and God a father or parent(s). This paper proposes that Job's story may be reactive to a period where male authority was at risk of becoming excessive, threatening family and community health. PMID:19421870

  10. Human errors - human caused, environment caused

    International Nuclear Information System (INIS)

    The importance of human error in the safe operation of Nuclear Plants has been well recognised. The human error could be due to a large number of reasons. Eg. coming from factors like sensing, perceiving, predicting, familiarity, skills, rules, individual performance and environmental factors such as ergonomics, work organisation, procedure, time and duration of work, training, physical environment etc. Two incidents highlighting human caused and environmental caused errors are described. Also a distribution of causes of failure and affected systems of Safety Related Unusual Occurrences is presented on the basis of the reports received by the regulatory body. A system to analyse human errors with respect to human caused and environment caused is being developed. The input data for this analysis is obtained from Safety Related Unusual Occurrence reports received by the regulatory body. The regulatory requirement for submission of these reports include first information report (by telex, telephone etc) within 24 hours of the incident and detailed report within 20 days. The detailed report amongst other information also contains information with respect to the cause of the incident. These reports are discussed at various levels and an attempt is made to identify the root cause. (author). 3 figs, 1 tab

  11. 两种步态量表在脑卒中偏瘫步行评定中的评测者间信度%Inter-rater Reliability of Wisconsin Gait Scale and Gait Abnormality Rating Scale in Hemiplegic Patients after Stroke

    Institute of Scientific and Technical Information of China (English)

    胡楠; 卢茜; 李军; 邓思宇; 毕胜

    2015-01-01

    Objective To study the inter-rater reliability of Wisconsin Gait Scale (WGS) and Gait Abnormality Rating Scale (GARS) in patients with stroke. Methods 20 hemiplegic patients were required to walk on their comfortable speed and videotaped from frontal, back-ward and lateral. The video recordings were scored with WGS and GARS by 2 experienced physical therapists. Intraclass correlation coeffi-cient (ICC) was calculated for the scores in each category and the total score. Results ICC for the WGS were 0.372~1, and were 0~0.875 for the GARS. Conclusion WGS is more appropriater to assess the gait of hemiplegic stroke patients than GARS.%目的:研究威斯康辛步态量表(WGS)、异常步态分级量表(GARS)在脑卒中异常步态评价中的评测者间信度。方法2名物理治疗师对20例脑卒中后偏瘫患者前、后、左、右方向上的步行视频根据WGS、GARS进行评价。采用等级间相关系数(ICC)评价WGS和GARS的评测者间信度。结果 WGS评测者间信度ICC=0.327~1, GARS评测者间信度ICC=0~0.875。结论WGS具有较好的评测者间信度,较GARS更适用于脑卒中偏瘫患者的步态评定。

  12. For Family and Friends: How Can I Help?

    Science.gov (United States)

    Fact Sheet - For Family and Friends: How Can I Help? What Can I Do? It is often difficult for family and friends to know what to do to help a ... say them. This uncertainty can cause family and friends to withdraw and distance themselves, leaving the patient ...

  13. 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…

  14. [Teaching about Family Law].

    Science.gov (United States)

    Ryan, John Paul, Ed.

    1992-01-01

    This issue of "Focus on Law Studies""contains a special emphasis on teaching about law and the family", in the form of the following three articles: "Teaching Family Law: Growing Pains and All" (Susan Frelich Appleton); "The Family Goes to Court: Including Law in a Sociological Perspective on the Family" (Mary Ann Lamanna); and Michael Grossberg's…

  15. Pure γ-families

    International Nuclear Information System (INIS)

    The subject of this work are pure gamma families consisting of the gamma quanta produced in the early stages of cosmic cascades. The criteria of selecting these families from the all measured families are presented. The characteristics of these families are given and some conclusions about the mechanism of the nuclear-electromagnetic cascades are extracted. (S.B.)

  16. 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).

  17. Unusual causes of intrahepatic cholestatic liver disease

    OpenAIRE

    Mazokopakis, Elias E.; Papadakis, John A; Kofteridis, Diamantis P.

    2007-01-01

    We report five cases with unusual causes of intrahepatic cholestasis, including consumption of Teucrium polium (family Lamiaceae) in the form of tea, Stauffer’s syndrome, treatment with tamoxifen citrate for breast cancer, infection with Coxiella Burnetii (acute Q fever), and infection with Brucella melitensis (acute brucellosis).

  18. Family Connections: Visual Supports for Promoting Social Skills in Young Children--A Family Perspective

    Science.gov (United States)

    Moody, Amelia K.

    2012-01-01

    Family members of children with autism spectrum disorders (ASDs) often face social, emotional, and behavioral challenges in the home. Difficulty communicating with family members, forming relationships with friends, and responding appropriately to others can cause significant challenges in the home (Diagnostic and Statistical Manual of Mental…

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

    DEFF Research Database (Denmark)

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

    2012-01-01

    Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations. AHC is usually a sporadic disorder and has unknown etiology. We used exome sequencing of seven patients with AHC and the...

  20. Familial varieties of primary aldosteronism.

    Science.gov (United States)

    Stowasser, M; Gunasekera, T G; Gordon, R D

    2001-12-01

    1. Improved approaches to screening and diagnosis have revealed primary aldosteronism (PAL) to be much more common than previously thought, with most patients normokalaemic. The spectrum of this disorder has been further broadened by the study of familial varieties. 2. Familial hyperaldosteronism type I (FH-I) is a glucocorticoid-remediable form of PAL caused by the inheritance of an adrenocorticotrophic hormone (ACTH)- regulated, hybrid CYP11B1/CYP11B2 gene. Diagnosis has been greatly facilitated by the advent of genetic testing. The severity of hypertension varies widely in FH-I, even among members of the same family, and has demonstrated relationships with gender, degree of biochemical disturbance and hybrid gene crossover point position. Hormone "day curve" studies show that the hybrid gene dominates over wild-type CYP11B2 in terms of aldosterone regulation. This may be due, in part, to a defect in wild-type CYP11B2-induced aldosterone production. Control of hypertension in FH-I requires only partial suppression of ACTH and much smaller glucocorticoid doses than previously recommended. 3. Familial hyperaldosteronism type II (FH-II) is not glucocorticoid remediable and is not associated with the hybrid gene mutation. Familial hyperaldosteronism type II is clinically, biochemically and morphologically indistinguishable from apparently non-familial PAL. Linkage studies in one informative family did not show segregation of FH-II with the CYP11B2, AT1 or MEN1 genes, but a genome-wide search has revealed linkage with a locus in chromosome 7. As has already occurred in FH-I, elucidation of causative mutations is likely to facilitate earlier detection of PAL. PMID:11903322

  1. Family issues in child anxiety: attachment, family functioning, parental rearing and beliefs.

    Science.gov (United States)

    Bögels, Susan M; Brechman-Toussaint, Margaret L

    2006-11-01

    Family studies have found a large overlap between anxiety disorders in family members. In addition to genetic heritability, a range of family factors may also be involved in the intergenerational transmission of anxiety. Evidence for a relationship between family factors and childhood as well as parental anxiety is reviewed. Four groups of family variables are considered: (I) attachment; (II), aspects of family functioning, such as marital conflict, co-parenting, functioning of the family as a whole, and sibling relationships; (III) parental rearing strategies; and (IV) beliefs that parents hold about their child. The reviewed literature provides evidence for an association between each of these family factors and child anxiety. However, there is little evidence as yet that identified family factors are specific to child anxiety, rather than to child psychopathology in general. Moreover, evidence for a relationship between child anxiety and family factors is predominantly cross-sectional. Therefore, whether the identified family factors cause childhood anxiety still needs to be investigated. Further research that investigates mechanisms mediating the relationship between family factors and child anxiety is also called for. Finally, parental beliefs are identified as important predictors of parental behaviour that have largely not been investigated in relation to child anxiety disorders. PMID:16473441

  2. Inside the Family Firm

    OpenAIRE

    Bennedsen, Morten; Nielsen, Kasper; Pérez-González, Francisco; Wolfenzon, Daniel

    2005-01-01

    This paper uses a unique dataset from Denmark to investigate (1) the role of family characteristics in corporate decision making, and (2) the consequences of these decisions on firm performance. We focus on the decision to appoint either a family or an external chief executive officer (CEO). We show that a departing CEO’s family characteristics have a strong predictive power in explaining CEO succession decisions: family CEOs are more frequently selected the larger the size of the family, the...

  3. Families and health interactions

    OpenAIRE

    Zdanowicz, Nicolas; Lepièce, Brice; Tordeurs, David; Jacques, Denis; Janne, Pascal; Reynaert, Christine

    2011-01-01

    Background: In recent years, psychologists of health have attempted to understand the relations between family dynamics and health. The aim of our study is not only to study relations inside families and couples (relations between family of origin, nuclear and ideal family, current and ideal couple) but also outside between families and couples and different health indicator (physical and mental health, consumption of medications, and frequency of medical consultations). Subjects and methods:...

  4. 双动人工股骨头置换术治疗偏瘫患者不稳定股骨粗隆间骨折%Bipolar Arthroplasty for the Treatment of Unstable Intertrochanteric Fracture in Hemiplegic Patients

    Institute of Scientific and Technical Information of China (English)

    马国驹; 齐向北; 李克鹏

    2014-01-01

    【目的】观察双动人工股骨头置换术治疗偏瘫患者不稳定股骨粗隆间骨折的临床疗效。【方法】对2006年1月至2012年10月收治的45例合并偏瘫的不稳定股骨粗隆间骨折患者临床资料进行回顾性分析,其中25例采用双动人工股骨头置换术治疗,20例采用闭合复位锁定钢板内固定术治疗。比较两组手术时间、出血量、负重时间、Harris关节功能评分、并发症。【结果】术后随访2年,关节置换组较内固定组手术时间短、出血量少、负重时间早、术后并发症少,Harris 关节功能评分高,恢复生活自理能力时间短、病死率低。【结论】双动人工股骨头置换术治疗合并偏瘫的不稳定性股骨粗隆间骨折具有手术时间短、出血量少、术后髋关节功能好,并发症少等优点,值得临床推广应用。%[Objective]To observe the clinical efficacy of bipolar arthroplasty for the treatment of unstable intertrochanteric fracture in patients with hemiplegia .[Methods]Chosen from January 2006 to October 2012 , A total of 45 hemiplegic patients with unstable intertrochanteric fracture from Jan .2006 to Oct .2012 were an-alyzed retrospectively .Of them ,25 patients were treated with bipolar arthroplasty and 20 patients were trea-ted with closed reduction and locking plate internal fixation .The operation time ,blood loss ,weight-bearing time ,Harris joint function score and complication were compared between two groups .[Results] All patients were followed up for 2 years after the operation .Compared with internal fixation group ,the bipolar arthro-plasty group had shorter operation time ,less blood loss ,earlier weight-bearing time ,less postoperative com-plications group ,higher Harris joint function score ,shorter recovery time of independent living ability and lower mortality .[Conclusion]Bipolar arthroplasty for the treatment of unstable intertrochanteric fracture with hemiplegia has

  5. The heterogeneity of family violence and its implications for practice

    OpenAIRE

    Dixon, Louise; Browne, Kevin

    2007-01-01

    Reviews on the causes of aggression in the family have emphasised the extensive overlap between all forms of partner violence and child maltreatment. However, research into family violence has often investigated child and partner maltreatment as separate entities, frequently examining the violent man in order to understand the correlates and potential causes of his violent behaviour within the family. This review highlights the importance of examining intimate partner violence within the c...

  6. 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.

  7. Family Therapy for the "Truncated" Nuclear Family.

    Science.gov (United States)

    Zuk, Gerald H.

    1980-01-01

    The truncated nuclear family consists of a two-generation group in which conflict has produced a polarization of values. The single-parent family is at special risk. Go-between process enables the therapist to depolarize sharply conflicted values and reduce pathogenic relating. (Author)

  8. 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…

  9. Leading Causes of Blindness

    Science.gov (United States)

    ... Issue Past Issues Feature: Vision Leading Causes of Blindness Past Issues / Summer 2008 Table of Contents For ... have cataracts. They are the leading cause of blindness in the world. By age 80, more than ...

  10. What Causes Pulmonary Hypertension?

    Science.gov (United States)

    ... from the NHLBI on Twitter. What Causes Pulmonary Hypertension? Pulmonary hypertension (PH) begins with inflammation and changes in the ... different types of PH. Group 1 pulmonary arterial hypertension (PAH) may have no known cause, or the ...

  11. What Causes Cystic Fibrosis?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Causes Cystic Fibrosis? A defect in the CFTR gene causes cystic ... in the severity of the disease. How Is Cystic Fibrosis Inherited? Every person inherits two CFTR genes—one ...

  12. What Causes Polycythemia Vera?

    Science.gov (United States)

    ... this page from the NHLBI on Twitter. What Causes Polycythemia Vera? Primary Polycythemia Polycythemia vera (PV) also ... in the body's JAK2 gene is the main cause of PV. The JAK2 gene makes a protein ...

  13. What Causes Atelectasis?

    Science.gov (United States)

    ... this page from the NHLBI on Twitter. What Causes Atelectasis? Atelectasis can occur if the lungs can' ... expand and fill with air. Atelectasis has many causes. Conditions and Factors That Prevent Deep Breathing and ...

  14. Causes of Male Infertility

    Medline Plus

    Full Text Available ... Cessation Links to Professional Societies and Organizations Home › Causes of Male Infertility Dr. Roger Lobo of the American Society for Reproductive Medicine covers causes of male infertility. "Understanding Infertility - The Basics" is ...

  15. What Causes Hypotension?

    Science.gov (United States)

    ... this page from the NHLBI on Twitter. What Causes Hypotension? Conditions or factors that disrupt the body's ability to control blood pressure cause hypotension. The different types of hypotension have different ...

  16. What Causes Anemia?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Causes Anemia? The three main causes of anemia are: Blood ... the blood and can lead to anemia. Aplastic Anemia Some infants are born without the ability to ...

  17. Causes of Male Infertility

    Medline Plus

    Full Text Available ... to Professional Societies and Organizations Home › Causes of Male Infertility Dr. Roger Lobo of the American Society for Reproductive Medicine covers causes of male infertility. "Understanding Infertility - The Basics" is a series ...

  18. Causes of Male Infertility

    Science.gov (United States)

    ... to Professional Societies and Organizations Home › Causes of Male Infertility Dr. Roger Lobo of the American Society for Reproductive Medicine covers causes of male infertility. "Understanding Infertility - The Basics" is a series ...

  19. What Causes Parkinson's?

    Science.gov (United States)

    ... National HelpLine Educational Publications Online Seminars Parkinson's News Parkinson's HelpLine Learn More Educational Materials Do you want ... more. Order Free Materials Today Causes What Causes Parkinson's? To date, despite decades of intensive study, the ...

  20. What Causes Cardiomyopathy?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Causes Cardiomyopathy? Cardiomyopathy can be acquired or inherited. “Acquired” means ... case when the disease occurs in children. Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy usually is inherited. It’s caused by ...

  1. What Causes Lactose Intolerance?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications What causes lactose intolerance? Skip sharing on social media links Share this: ... lactase in the body is the cause of lactose intolerance. The names for the three types of lactose ...

  2. What Causes Bronchitis?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Causes Bronchitis? Acute Bronchitis Infections or lung irritants cause acute bronchitis. The ... fire, also may lead to acute bronchitis. Chronic Bronchitis Repeatedly breathing in fumes that irritate and damage ...

  3. The Effect of Family Presence during Pediatric Intensive Care Unit Bedside on Family General Health: a Clinical Trial Study

    OpenAIRE

    Mohammad Adineh; Tahereh Toulabi; Yadollah Pournia Pournia; Shahram Baraz

    2016-01-01

    Background A child's hospitalization in intensive care units causes stress and worry in other family members. This study aimed to determine the effect of family presence during pediatric ICU bedside on family general health. Materials and Methods In this clinical trial study, 46 family members of the pediatrics hospitalized in the ICU in Teaching hospital affiliated with the Lorestan University of Medical Sciences in Khorramabad in April to November 2014 were divided into two groups using the...

  4. What Causes Heart Disease?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Causes Heart Disease? Research suggests that coronary heart disease (CHD) begins with damage to the lining and ... causing coronary microvascular disease (MVD). Coronary MVD is heart disease that affects the heart's tiny arteries. The cause ...

  5. Do Allergies Cause Asthma?

    Science.gov (United States)

    ... Help a Friend Who Cuts? Do Allergies Cause Asthma? KidsHealth > For Teens > Do Allergies Cause Asthma? Print A A A Text Size en español ¿Las alergias provocan asma? Do allergies cause asthma? The answer to that question is: yes and ...

  6. Comparison of clinical characteristics between familial and non-familial early onset Alzheimer’s disease

    OpenAIRE

    Joshi, Aditi; Ringman, John M.; Lee, Albert S.; Juarez, Kevin O.; Mendez, Mario F.

    2012-01-01

    Although familial Alzheimer’s disease (FAD) is an early onset AD (EAD), most patients with EAD do not have a familial disorder. Recent guidelines recommend testing for genes causing FAD only in those EAD patients with two first-degree relatives. However, some patients with FAD may lack a known family history or other indications for suspecting FAD but might nonetheless be carriers of FAD mutations. The study was aimed to identify clinical features that distinguish FAD from non-familial EAD (N...

  7. Frontotemporal dementia caused by CHMP2B mutations

    DEFF Research Database (Denmark)

    Isaacs, A M; Johannsen, P; Holm, I;

    2011-01-01

    CHMP2B mutations are a rare cause of autosomal dominant frontotemporal dementia (FTD). The best studied example is frontotemporal dementia linked to chromosome 3 (FTD-3) which occurs in a large Danish family, with a further CHMP2B mutation identified in an unrelated Belgian familial FTD patient...

  8. Understanding Workaholism: A Review of Causes and Counseling Approaches.

    Science.gov (United States)

    Seybold, Karen Colapietro; Salomone, Paul R.

    1994-01-01

    Examines whether workaholism is an addiction or a rewarding lifestyle that may be harmful to one's family and coworkers. Discusses definitions and causes of workaholism, the role of Type A and obsessive-compulsive traits, workaholism's effects on workaholics and their family life, and counseling approaches with workaholics. (RJM)

  9. Foodborne outbreak of shigellosis caused by an unusual Shigella strain.

    OpenAIRE

    Huq, I; Alam, A K; Morris, G K; Wathen, G; Merson, M

    1980-01-01

    A family outbreak of foodborne shigellosis caused by an unusual strain of Shigella is described. The strain was a mannitol-positive variant of Shigella dysenteriae and agglutinated in antiserum prepared against provisional serotype 3341-55.

  10. Family Theory and Family Health Research: Understanding the family health and illness cycle

    OpenAIRE

    Doherty, William J.

    1991-01-01

    Different family theories can be applied to different aspects of how families experience health and illness. The family health and illness cycle describes the phases of a family's experience, beginning with health promotion and risk reduction, then family vulnerability and disease onset or relapse, family illness appraisal, family acute response, and finally family adaptation to illness and recovery. For each phase, specific family theories that are most appropriate for guiding family and hea...

  11. Inside the Family Firm

    DEFF Research Database (Denmark)

    Bennedsen, Morten; Nielsen, Kasper; Pérez-González, Francisco;

    2005-01-01

    -child family firms are more likely to pass on control to a family CEO than female first-child firms, but the gender of the first child is unlikely to affect firms' performance. We find that family successions have a dramatic negative causal impact on firm performance: profitability on assets falls by at least......This paper uses a unique dataset from Denmark to investigate (1) the role of family characteristics in corporate decision making, and (2) the consequences of these decisions on firm performance. We focus on the decision to appoint either a family or an external chief executive officer (CEO). We...... show that a departing CEO's family characteristics have a strong predictive power in explaining CEO succession decisions: family CEOs are more frequently selected the larger the size of the family, the higher the ratio of male children and when the departing CEOs had only had one spouse. We then...

  12. Xeroderma Pigmentosum - A Family

    Directory of Open Access Journals (Sweden)

    Garg Anush

    2000-01-01

    Full Text Available A family of xeroderma pigmentosum is reported. Four children of different ages were afflicted with varying clinical presentation. Sequential development and progression of the disease from freckling to malignancy within the family are discussed.

  13. Xeroderma Pigmentosum - A Family

    OpenAIRE

    Garg Anush; Singhi M.K

    2000-01-01

    A family of xeroderma pigmentosum is reported. Four children of different ages were afflicted with varying clinical presentation. Sequential development and progression of the disease from freckling to malignancy within the family are discussed.

  14. Importance of Family Routines

    Science.gov (United States)

    ... Listen Español Text Size Email Print Share The Importance of Family Routines Page Content ​Every family needs ... child to sleep. These rituals can include storytelling, reading aloud, conversation, and songs. Try to avoid exciting ...

  15. Loosely coupled class families

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

    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 are...... expressed using virtual classes seem to be very tightly coupled internally. While clients have achieved the freedom to dynamically use one or the other family, it seems that any given family contains a xed set of classes and we will need to create an entire family of its own just in order to replace one of...... the members with another class. This paper shows how to express class families in such a manner that the classes in these families can be used in many dierent combinations, still enabling family polymorphism and ensuring type safety....

  16. Family Patterns in Dogmatism

    Science.gov (United States)

    Lesser, Harvey; Steininger, Marion

    1975-01-01

    Explored Rokeach's theory that dogmatism develops within the family. Subjects were college students and their parents who took the 40-item Dogmatism Scale. Results indicated that family experiences are one source of children's dogmatism but not the only source. (SDH)

  17. 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 ...

  18. Familial combined hyperlipidemia

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000396.htm Familial combined hyperlipidemia To use the sharing features on this page, please enable JavaScript. Familial combined hyperlipidemia is a disorder that is passed down ...

  19. Resilience of refugee families

    Directory of Open Access Journals (Sweden)

    Batić Dragana

    2012-01-01

    Full Text Available This study attempted to find a correlation between the trauma of family members of war and exile, and the characteristics of family functioning and lasted from 1992-1995. The term “family resilience” refers to the processes of adaptation and coping in the family as a functional unit. This paper presents a study of refugee families from Bosnia, who lived in refugee camps in Macedonia during the war of 1992- 1995. Data were obtained by interviews, observations, and a number of psychological instruments especially for children and parents, which measured the effects of psychological stress and family relationships. Based on the results obtained by quantitative and qualitative analysis, and application of theoretical models of systemic theory and family therapy, existence for four types of refugee families has been found and described, depending on the structure and the level of functionality.

  20. Family Caregiver Alliance

    Science.gov (United States)

    ... path forward. Discover ways to survive, post-caregiving. >> FAMILY CARE NAVIGATOR ─ Click on Your State AL AK ... our Advanced Search FCA Blog A Complex Web: Family Caregiving and Healthcare [Editor's note: This blog was ...

  1. Familial lipoprotein lipase deficiency

    Science.gov (United States)

    ... medlineplus.gov/ency/article/000408.htm Familial lipoprotein lipase deficiency To use the sharing features on this page, please enable JavaScript. Familial lipoprotein lipase deficiency is a group of rare genetic disorders ...

  2. Una mutación en el gen PARK2 causa enfermedad de Parkinson juvenil en una extensa familia colombiana Mutation c.255delA in the PARK2 gene as cause of juvenile Parkinson´s disease in a large Colombian family

    Directory of Open Access Journals (Sweden)

    Nicolas Pineda Trujillo

    2009-05-01

    -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;}

    family: ";Times New Roman";,";serif";;" lang="EN-US">Parkinson´s is a common disease (PD caused by degeneration of dopaminergic neurons in the substantia nigra and other brain areas. Several genes and mutations have been mplicated in its pathogenesis, the latter have been identified mainly in the PARK2 gene.

    family: ";Times New Roman";,";serif";;" lang="EN-US">We report the evaluation of this gene and of its flanking region in a large family from the southwestern part of Colombia. The parents are first cousins and four out of their ten children were affected at juvenile age.

    family: ";Times New Roman";,";serif";;" lang="EN-US">Molecular evaluation included typing of microsatellites (SSTRs and direct sequencing of the exons of the gene.

    family: ";Times New Roman";,";serif";;" lang="EN-US">Our findings showed the presence, in a homozygous manner, of the mutation c.255delA, at exon 2 of PARK2. In addition, it was possible to identify a haplotype carried by both parents, and present in a homozygous manner in the affected children. A high rate of recombinants was observed in the analysed

  3. Progressive familial intrahepatic cholestasis

    Directory of Open Access Journals (Sweden)

    Baussan Christiane

    2009-01-01

    Full Text Available Abstract Progressive familial intrahepatic cholestasis (PFIC refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 births. Three types of PFIC have been identified and related to mutations in hepatocellular transport system genes involved in bile formation. PFIC1 and PFIC2 usually appear in the first months of life, whereas onset of PFIC3 may also occur later in infancy, in childhood or even during young adulthood. Main clinical manifestations include cholestasis, pruritus and jaundice. PFIC patients usually develop fibrosis and end-stage liver disease before adulthood. Serum gamma-glutamyltransferase (GGT activity is normal in PFIC1 and PFIC2 patients, but is elevated in PFIC3 patients. Both PFIC1 and PFIC2 are caused by impaired bile salt secretion due respectively to defects in ATP8B1 encoding the FIC1 protein, and in ABCB11 encoding the bile salt export pump protein (BSEP. Defects in ABCB4, encoding the multi-drug resistant 3 protein (MDR3, impair biliary phospholipid secretion resulting in PFIC3. Diagnosis is based on clinical manifestations, liver ultrasonography, cholangiography and liver histology, as well as on specific tests for excluding other causes of childhood cholestasis. MDR3 and BSEP liver immunostaining, and analysis of biliary lipid composition should help to select PFIC candidates in whom genotyping could be proposed to confirm the diagnosis. Antenatal diagnosis can be proposed for affected families in which a mutation has been identified. Ursodeoxycholic acid (UDCA therapy should be initiated in all patients to prevent liver damage. In some PFIC1 or PFIC2 patients, biliary diversion can also relieve pruritus and slow disease progression. However, most PFIC patients are ultimately candidates for liver transplantation

  4. Family Policy in France

    OpenAIRE

    Fagnani, Jeanne

    2006-01-01

    Over the last two decades, contrary to the pension system, the family policy branch of the Social security system has been immune to cutbacks in provision and no retrenchment measures have been implemented. This mirrors the salience of family-related issues in the social and political agenda. This also reflects the fact that the family branch and its large network of Local Allowance Funds (CAFs) are responsible for the management of welfare state provisions. The family branch is a transfer-he...

  5. Violence against children within the family

    OpenAIRE

    JACEK J. BŁESZYŃSKI; ANITA RODKIEWICZ-ROŻEK

    2012-01-01

    The article presents the problem of child abuse in the family. Shows the causes of violence in the family, but also treats children’s rights under the Convention on the Rights of the child, such as the right to an identity, right to expression, the right to live without violence, the right to social assistance, right to education. Th is article presents the family as the basic environment in which the child is born and brought up, because it has strong infl uence on the sh...

  6. Family systems and fertility

    NARCIS (Netherlands)

    Moenkediek, Bastian

    2016-01-01

    This thesis studies the role of regional family organization principles, so called family systems, for explaining fertility behaviours in different parts of Europe. Studying family systems and its impact on fertility is important, because many aspects of societal life, such as the organization of we

  7. Family Customs and Traditions.

    Science.gov (United States)

    MacGregor, Cynthia

    Recognizing the importance of maintaining open communication with immediate and extended family members, this book provides a compilation of ideas for family traditions and customs that are grounded in compassion and human kindness. The traditions were gathered from families in the United States and Canada who responded to advertisements in…

  8. Genetics of familial melanoma

    DEFF Research Database (Denmark)

    Aoude, Lauren G; Wadt, Karin A W; Pritchard, Antonia L;

    2015-01-01

    Twenty years ago, the first familial melanoma susceptibility gene, CDKN2A, was identified. Two years later, another high-penetrance gene, CDK4, was found to be responsible for melanoma development in some families. Progress in identifying new familial melanoma genes was subsequently slow; however...

  9. Single Mothers "Do" Family

    Science.gov (United States)

    Nelson, Margaret K.

    2006-01-01

    This paper explores how single mothers both incorporate others into family life (e.g., when they ask others to care for their children) and simultaneously "do families" in a manner that holds out a vision of a "traditional" family structure. Drawing on research with White, rural single mothers, the author explores the manner in which these women…

  10. Strengthening America's Families.

    Science.gov (United States)

    Alvarado, Rose; Kumpfer, Karol

    2000-01-01

    Improving parenting practices and the family environment is the most effective, enduring strategy for combating juvenile delinquency. Describes the Office of Juvenile Justice and Delinquency Prevention's Strengthening America's Families Initiative. Highlights several family-focused prevention programs identified as exemplary, explaining how they…

  11. Family Reunion Health Guide

    Science.gov (United States)

    ... HEALTH GUIDE CONTENTS 19 of 23 Planning Tips Planning Tip 1. | Create a family history health chart. A Web-based tool for ... portrait can be found at familyhistory. hhs. gov . Planning Tip 2. | Develop a Family Reunion Facebook page and help family members stay ...

  12. Causes and effects.

    Science.gov (United States)

    Cone, Carol L; Feldman, Mark A; DaSilva, Alison T

    2003-07-01

    Most companies make charitable donations, but few approach their contributions with an eye toward enhancing their brands. Those that do take such an approach commit talent and know-how, not just dollars, to a pressing but carefully chosen social need and then tell the world about the cause and their service to it. Through the association, both the business and the cause benefit in ways they could not otherwise. Organizations such as Avon, ConAgra Foods, and Chevrolet have recognized that a sustained cause-branding program can improve their reputations, boost their employees' morale, strengthen relations with business partners, and drive sales. And the targeted causes receive far more money than they could have from direct corporate gifts alone. The authors examine these best practices and offer four principles for building successful cause-branding programs. First, they say, a company should select a cause that advances its corporate goals. That is, unless the competitive logic for supporting the cause is clear, a company shouldn't even consider putting its finite resources behind it. Second, a business should commit to a cause before picking its charitable partners. Otherwise, a cause-branding program may become too dependent on its partners. Third, a company should put all its assets to work, especially its employees. It should leverage the professional skills of its workers as well as its other assets such as distribution networks. And fourth, a company should promote its philanthropic initiatives through every possible channel. In addition to using the media, it should communicate its efforts through the Web, annual reports, direct mail, and so on. Cause branding is a way to turn the obligations of corporate citizenship into a valuable asset. When the cause is well chosen, the commitment genuine, and the program well executed, the cause helps the company, and the company helps the cause. PMID:12858714

  13. Multi-Caused Obesity

    Science.gov (United States)

    Lewis, Anne C.

    2006-01-01

    Headlines recently were full of studies about the obesity problem of America's children and young people, as if kids became overweight without anyone noticing. An accumulation of both school and family habits, however, have been contributing to the fact that at least 13% of children ages 7 to 11 are overweight, double those of the 1970s (and…

  14. Particles causing lung disease.

    OpenAIRE

    Kilburn, K H

    1984-01-01

    The lung has a limited number of patterns of reaction to inhaled particles. The disease observed depends upon the location: conducting airways, terminal bronchioles and alveoli, and upon the nature of inflammation induced: acute, subacute or chronic. Many different agents cause narrowing of conducting airways (asthma) and some of these cause permanent distortion or obliteration of airways as well. Terminal bronchioles appear to be particularly susceptible to particles which cause goblet cell ...

  15. Family traditions and generations.

    Science.gov (United States)

    Schneiderman, Gerald; Barrera, Maru

    2009-01-01

    Currently, traditional family values that have been passed down through generations appear to be at risk. This has significant implications for the stability and health of individuals, families, and communities. This article explores selected issues related to intergenerational transmission of family values and cultural beliefs, with particular reference to Western culture and values that are rooted in Jewish and Christian traditions. It also examines family values and parenting styles as they influence the developing perspective of children and the family's adaptation to a changing world. PMID:19752638

  16. [Family policy in Belgium].

    Science.gov (United States)

    Dumon, W

    1987-01-01

    The development of family policy in Belgium since the end of World War I is described. Three periods are identified. The original objectives were to provide a basic income level for all families and to promote fertility. After World War II, measures were introduced to foster the physical and psychological health of the family, including the protection of women's rights. More recent policy trends have concentrated on family income and providing services at the family rather than the institutional level. (SUMMARY IN ENG AND FRE) PMID:12280764

  17. Methodological findings in studies on adoptive families

    Directory of Open Access Journals (Sweden)

    Kalus, Alicja

    2014-09-01

    Full Text Available The issue of adoptive families is the object of interest for many researchers, especially outside Polish borders. A critical analysis of previous studies on adoption shows that the scientific value of many of the existing studies raises doubts. The reasons of this are more or less significant methodological weaknesses, which significantly reduce their scientific value. Researchers often focus on the study of individuals in the adoptive family, e.g. mothers only, adopted children only or selected types of relationships within the family e.g. the mother – child relation. There is a little amount of studies on family systems. It seems worthy to note that numerous studies are conducted in the cause-effect model of explaining phenomena in the adoptive family. Such approach to the study of reality, which is the family, is regarded as too big simplification. Therefore, there is an important reason to undertake the scientific discourse on the research methodology on the adoptive family. Discussed in the paper issues include: theoretical models, arrangement of studies, especially the selection of the test group and the research methods used in the study on adoptive families. Conducting scientific research is essential for the adoption practice. Among psychologists-practitioners exists a disturbing belief that working with adoptive families can be based on the experience gained in psychological practice. This fact can be explained by the existing lack of willingness of adoptive families to cooperate in the field of scientific research. Lack of this cooperation significantly limits the access to the study population of adoptive families.

  18. What Causes Bad Breath?

    Science.gov (United States)

    ... I Help a Friend Who Cuts? What Causes Bad Breath? KidsHealth > For Teens > What Causes Bad Breath? Print A A A Text Size en español ¿Qué es lo que provoca el mal aliento? Bad breath, or halitosis , can be a major problem, especially ...

  19. Do Allergies Cause Asthma?

    Science.gov (United States)

    ... Smoothie Pregnant? Your Baby's Growth Do Allergies Cause Asthma? KidsHealth > For Parents > Do Allergies Cause Asthma? Print A A A Text Size en español ¿Causan asma las alergias? My daughter has asthma and I'm worried that her younger brother ...

  20. An Investigation into Effect of Community-based rehabilitation on Quality of the Life of Housebound Patients with Hemiplegic Stroke%社区康复对居家脑卒中偏瘫患者生活质量的影响探析

    Institute of Scientific and Technical Information of China (English)

    陈丽艳

    2015-01-01

    目的::探讨社区康复对居家脑卒中偏瘫患者生活质量的影响。方法:选用符合实验要求的54例居家脑卒中偏瘫患者作为观察对象,随机将患者分为实验组和对照组。在两组患者在接受药物治疗的基础上,实验组采用社区康复(康复训练、健康教育、生活指导、心理保健、饮食用药指导、病情监测),对照组不采取任何社区康复措施,只是对肢体进行简单的按摩和活动。观察两个月后两组患者生活质量变化。结果:社区康复结束后,通过 QOLI 评分比较,实验组患者的 Barthel 指数和对基本知识的掌握等均优于对照组,差异有统计学意义(P <0.05)。结论:通过对居家脑卒中偏瘫患者进行社区康复,可以提高患者生活自理能力,避免恶性循环,以令其机体功能得到最大程度上的康复,改善生活质量,值得推广使用。%Objective:To investigate the effect of community rehabilitation on the quality of life of house-bound patients with hemiplegic stroke.Methods:54 housebound patients with hemiplegic stroke in line with the test requirements were selected as observation objected,patients were randomly divided into experimen-tal group and control group.Patients in both groups received drug treatment ,on the basis of that,the experi-mental group underwent CBR (rehabilitation training,health education,life guidance,mental health,diet medication instruction,disease surveillance).The control group did not take any community rehabilitation measures,they received massage and physical activity on limbs.Changes in quality of life in the 2 groups was observed after two months.Results:After finishing CBR,according to the scores of QOLI ,the Barthel index of patients in the experimental group and their mastery of basic knowledge were better than than in control group,the differences were statistically significant (P <0.05).Conclusion:CBR for housebound patients with

  1. A comparative study on proprioception between lower limbs of unaffected side of hemiplegic patients after stroke and lower limbs of normal person%脑卒中偏瘫患者非瘫痪侧下肢与正常人下肢本体感觉比较

    Institute of Scientific and Technical Information of China (English)

    宋建霞; 倪朝民; 张科; 陈进; 范文祥; 穆景颂; 邹坤

    2013-01-01

    目的:定量分析脑卒中偏瘫患者非瘫痪侧下肢与正常人下肢本体感觉之间的差异.方法:选用意大利Tecnobody公司Pro-Kin254P型本体感觉定量测试系统,采集28例脑卒中偏瘫患者非瘫痪侧下肢和30例正常人双下肢的本体感觉测试参数,主要观察指标为平均轨迹误差(ATE)、测试执行时间(TTE)和稳定指数(SI).结果:①脑卒中偏瘫患者患侧下肢平均轨迹误差、测试执行时间及稳定指数与正常组相应侧下肢比较,差异具有显著性(P<0.01);②右半球损伤患者同侧下肢本体感觉差于左半球损伤者,除测试执行时间指标外差异具有显著性意义(P<0.05);③正常组左下肢本体感觉参数优于右下肢,但差异无显著性意义(P>0.05);④平均轨迹误差与测试执行时间呈中度负相关(r=-0.550,P=0.002).结论:脑卒中偏瘫患者不仅患侧下肢存在功能障碍,其非瘫痪侧下肢与正常人相比也存在差异,且右半球损伤患者下肢本体感觉差于左半球损伤者,因此脑卒中后健侧下肢功能状况不容忽视.%Objective:To make quantitative comparision on proprioception between the unaffected lower limbs of hemiplegte patients after stroke and lower limbs of normal person.Method: The lower limbs of 28 hemiplegic patients after stroke and 30 normal person were measured by using a computerized proprioceptive foot-board(Pro-Kin system,Tecnbody,Italy).Main outcome measures included average trace error(ATE)、test't time execution(TTE) and stability index(SI).Result: ①The affected lower limbs of hemiplegie patients after stroke and lower limbs of normal person were significant different on the three parameters ATE、TTE and SI(P0.05);④Moder-ate negative correlation was found between ATE and TTE(r=-0.550,P=0.002).Conclusion: In hemiplegic patients, not only the affected lower limbs had proprioception deficits, but also there were some differences between the unaffected lower limbs of

  2. 体针结合本体感觉神经肌肉促进技术对急性期脑卒中偏瘫患者肩关节半脱位的疗效观察%Study on effect of acupuncture and proprioceptive neuromuscular facilitation combined therapy in acute phase of stroke hemiplegic patients with shoulder joint subluxation.

    Institute of Scientific and Technical Information of China (English)

    任亚平; 于青; 张志强; 李玉勤; 何磊; 陈艳红

    2012-01-01

    Objective To study the efficacy of acupuncture and proprioceptive neuromuscular facilitation combined therapy on acute phase of stroke hemiplegic patients with shoulder joint subluxation. Methods Sixty cases of acute phase of stroke with hemiplegia were randomly divided into two groups, proprioceptive neuromuscular facilitation therapy group and body acupuncture combined with proprioceptive neuromuscular facilitation therapy group, each with 30 cases. Correlation analysis was carried out on recovery of motor function and complications of hemiplegic stroke patients. Results The therapy of body acupuncture combined with proprioceptive neuromuscular facilitation on acute phase of stroke hemiplegic shoulder subluxation was superior to that of simple proprioceptive neuromuscular facilitation evaluated by simplified Fugl - Meyer upper limb motor function scores, shoulder and elbow joint activity evaluation and improvement index, there was significant difference between these two groups in t test. Conclution The therapy of body acupuncture combined with proprioceptive neuromuscular facilitation can effectively expedite the therapeutic process of patients with shoulder subluxation in acute phase of stroke hemiplegia, improve the ability of daily living activities and raise their quality of life.%目的 研究体针与本体感觉神经肌肉促进技术相结合的疗法对急性期脑卒中偏瘫肩关节半脱位的疗效.方法 选择急性期脑卒中偏瘫患者60例,随机分为本体感觉神经肌肉促进技术疗法组,体针结合本体感觉神经肌肉促进技术疗法组,各30例.对脑卒中偏瘫患者运动功能恢复及并发症的情况进行分析.结果 体针结合本体感觉神经肌肉促进技术疗法对急性期脑卒中偏瘫患者肩关节半脱位的治疗,简化Fugl-Meyer上肢运动功能评分、肩肘关节活动度评估以及改良Barthel指数均明显优于单纯的本体感觉神经肌肉促进技术疗法,经t检

  3. 本体感觉训练对脑卒中偏瘫患者运动功能及日常生活活动能力的影响%Effects of proprioception training on the motor function and ability in the activities of daily living of hemiplegic stroke patients

    Institute of Scientific and Technical Information of China (English)

    谢凌锋; 黄晓琳; 黄杰; 肖少华; 韩肖华

    2012-01-01

    目的 研究本体感觉训练对脑卒中偏瘫患者运动功能及日常生活活动能力的影响.方法 将脑卒中偏瘫患者40例按随机数字表法分为治疗组(20例)和对照组(20例).2组患者均给予常规康复治疗及药物治疗,治疗组在此基础上辅以本体感觉训练.2组患者均于治疗前和治疗4周后(治疗后)采用Tecnobody本体感觉系统评估、Fugl-Meyer下肢运动功能评定(FMA)、Berg平衡最表(BBS)、改良Barthel指数评定表(BI)分别评估其本体感觉、下肢运动功能、平衡能力及日常生活活动能力.结果 治疗后,治疗组患者本体感觉能力、下肢运动功能、平衡能力及日常生活活动能力均较治疗前有明显提高(P<0.05);对照组患者下肢运动功能、平衡能力及日常生活活动能力均较治疗前有明显提高(P<0.05),但本体感觉能力较治疗前未见明显改善(P>0.05);组间比较发现,治疗组平衡能力及日常生活活动能力的改善优于对照组(P<0.05).结论 本体感觉训练能更好地改善脑卒中偏瘫患者的运动功能(包括本体感觉、平衡功能)及日常生活活动能力.%Objective To study the effects of proprioception training on the motor function and ability in the activities of daily living (ADL) of hemiplegic stroke patients. Methods Forty hemiplegic stroke patients were divided into study group and a control group ( n =20 in each).The two groups received conventional rehabilitation treatment and pharmacotherapy,but the study group received additional proprioception training.The Technobody proprioceptive system assessment,the Fugl-Meyer lower limb assessment (FMA),the Berg balance scale (BBS) and the modified Barthel index (MBI) were used to evaluate their proprioceptive ability,lower limb motor function,balance and ADL ability,before and after 4 weeks of treatment. Results After 4 weeks,proprioception,lower limb motor function,balance and ADL ability had all improved

  4. Family governance practices and teambuilding : Paradox of the enterprising family

    NARCIS (Netherlands)

    Berent-Braun, M.M.; Uhlaner, L.M.

    2012-01-01

    This paper explores the relationship between family governance practices and financial performance of the business and family assets of business-owning families. A business-owning family that shares a focus on preserving and growing wealth as a family is defined as the enterprising family. Results o

  5. 24 CFR 982.515 - Family share: Family responsibility.

    Science.gov (United States)

    2010-04-01

    ... 24 Housing and Urban Development 4 2010-04-01 2010-04-01 false Family share: Family responsibility... Assistance Payment § 982.515 Family share: Family responsibility. (a) The family share is calculated by subtracting the amount of the housing assistance payment from the gross rent. (b) The family rent to owner...

  6. Psychological prevention of parent-child conflict in modern family

    Directory of Open Access Journals (Sweden)

    A. Yu. Kodzhaspirov

    2013-04-01

    Full Text Available Our research aimed at investigating the influence of personality characteristics of parents on specifics of their relationships with children. We considered different ways of family conflicts correction. The study involved 200 families (about 600 people, with one or two children, aged 11 to 14 years. The subject of the study were family conflicts and their impact on child’s behavior. Our hypotheses based on the following assumptions: 1 personal characteristics of parents determine the style of family relationships and characteristics of educational influences, 2 inadequate educational impact of parents causes family conflict, so prevention and education for parents on family relationships will reduce the negative impact of conflict on the personal development of children. Relevance of the study concerns the need to increase attention to modern family by professional psychologists for psychological prevention of family conflict and for parental education.

  7. On the oldest asteroid families in the main belt

    CERN Document Server

    Carruba, V; Aljbaae, S; Domingos, R C; Huaman, M

    2016-01-01

    Asteroid families are groups of minor bodies produced by high-velocity collisions. After the initial dispersions of the parent bodies fragments, their orbits evolve because of several gravitational and non-gravitational effects,such as diffusion in mean-motion resonances, Yarkovsky and YORP effects, close encounters of collisions, etc. The subsequent dynamical evolution of asteroid family members may cause some of the original fragments to travel beyond the conventional limits of the asteroid family. Eventually, the whole family will dynamically disperse and no longer be recognizable. A natural question that may arise concerns the timescales for dispersion of large families. In particular, what is the oldest still recognizable family in the main belt? Are there any families that may date from the late stages of the Late Heavy Bombardment and that could provide clues on our understanding of the primitive Solar System? In this work, we investigate the dynamical stability of seven of the allegedly oldest familie...

  8. Influence of proprioceptive training of hemiplegic stroke patients on their visually-dependent compensatory strategy%脑卒中偏瘫患者本体感觉训练对视觉代偿依赖的影响

    Institute of Scientific and Technical Information of China (English)

    许志强; 武俊英; 吴亚文; 荣蓉; 原奎

    2013-01-01

    目的 探讨脑卒中偏瘫患者本体感觉训练对视觉代偿依赖的影响及其在立位平衡功能中的作用.方法 对20例无前庭功能病变且具有10 m步行能力的脑卒中偏瘫患者进行4周康复训练,并于人院时和训练4周对所有患者进行静态站立平衡测试.对重心左右偏移体重百分比(左右偏移)、重心前后偏移时间百分比(前后偏移)、重心分布(A%时间)进行训练前、后对比和睁、闭眼对比,采用t检验和多元线性回归分析进行统计学分析比较.结果 视觉对前后偏移没有影响,同时训练前后经统计学分析比较,差异亦无统计学意义(P>0.05);视觉对左右偏移有影响(P<0.05),同时睁眼状态的左右偏移在训练前后的差异有统计学意义(P<0.05),在闭眼状态差异无统计学意义(P>0.05);视觉在训练前对重心分布的差异无统计学意义(P>0.05),在训练后随着本体感觉功能改善,视觉对重心分布有影响(P<0.05),且在睁、闭眼状态训练后与训练前比较,差异均有统计学意义(P<0.05).结论 视觉代偿对具有步行能力但未经过训练的偏瘫患者的左右偏移有影响,但不能改善患者的重心摆动幅度,不利于患者步行;本体感觉训练可以改善立位平衡对视觉代偿的依赖,提高患者平衡功能.%Objective To investigate the influence of proprioceptive training of hemiplegic stroke patients on their visually compensatory dependence.Methods Twenty stroke patients without vestibular abnormalities were recruited.They were able to walk for 10 meters.All the patients underwent 4 weeks of rehabilitation training including proprioceptive training,treadmill exercises and isometric muscle strengthening.Static standing balance test was performed before and after 4 weeks of treatment.The parameters such as the anteroposterior and mediolateral sway of the center of gravity,center of gravity distribution were analyzed before and after the treatment

  9. Myth of the Perfect Family

    Science.gov (United States)

    ... together fulfill the multiple responsibilities of family life. MYTH: The "Nuclear Family" Is A Universal Phenomenon The ... members and in progressive fragmentation of the family. MYTH: Family Harmony Is The Rule, Not The Exception ...

  10. Autoinflammatory diseases: a possible cause of thrombosis?

    OpenAIRE

    La Regina, Micaela; Orlandini, Francesco; Manna, Raffaele

    2015-01-01

    Autoinflammatory diseases are a group of disorders due to acquired or hereditary disfunction of innate immune system and characterized by systemic or localized manifestations. The prototype is Familial Mediterranean Fever, a monogenic hereditary disorder, whose causing gene (MeFV gene) was identified in 1997 and opened the way to a new fascinanting chapter of rheumatology. A growing body of monogenic and poligenic autoinflammatory disorders has been described since then. Arterial and venous t...

  11. Surgical Challenges of Familial Hypercholesterolemia.

    Science.gov (United States)

    Bhoje, Amolkumar; Talwar, Sachin; Saxena, Rachit; Gharde, Parag; Choudhary, Shiv Kumar

    2016-06-01

    A 21-year-old patient with familial hypercholesterolemia presented with angina caused by ostial stenosis of the left internal mammary artery and severe calcific aortic stenosis with small aortic root 9 years after coronary revascularization. The ostium of the left internal mammary artery was enlarged using a saphenous vein patch through a left supraclavicular incision, which improved left ventricular function. Successful aortic valve replacement with posterior aortic root enlargement was subsequently performed. The surgical management of this condition is discussed briefly. PMID:27211947

  12. Impact of Childhood Epilepsy on the Family

    Directory of Open Access Journals (Sweden)

    Kerim Fazlıoglu

    2010-08-01

    Full Text Available Whole family is affected when an illness appears in the family or when there is an uncertainty regarding the health of a member. Symptoms, therapy, course of the disorder, constraint of the daily activities and long term effects of childhood chronic diseases deeply impact health and structure of the families. Diagnosis of a chronic disease in children presents as a significant psychological and psychosocial risk factor to the parents and other family members. Despite these known facts, psychosocial problems of parents of epileptic children are often ignored and not even questioned. These parents frequently have to leave their jobs or ask for their elderly relatives to look after their children. This situation could lead to major financial and social problems, weakening in intrafamilial communication and disruption in family harmony. Childhood epilepsy brings a great strain on family’s resources as other chronic diseases do and alter the life of significant others. According to biopsychosocial model, schemas in family relations influence the psychological process of the family members while the biopsychosocial process of the sick individual affect the functionality of the family. In other words, epilepsy affects not only the sick individual but also the family union. The family has to face many problems after definite diagnosis of epilepsy. Majority of the studies conducted on this issue mainly focused on the quality of life and family relations of the sick child, whereas only a few studies searched for possible burden and resulting problems of family members caused by epilepsy. Physicians in charge should not only focus on physical and mental health of the sick children but also on the problems of other members in the family bearing in mind psychosocial influences of the disorder on them. Additionally, preventive methods should be administered to protect the family from developing mental health problems. A multidiscipline training program

  13. 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......, whereas vertebrates contain two to four genes. In cnidarians, the gene appears to encode a secreted protein, but transmembrane isoforms of the protein have also evolved, and in many species, alternative splicing facilitates the expression of both transmembrane and secreted isoforms. In most species, 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...

  14. Familial germ cell tumor

    Directory of Open Access Journals (Sweden)

    Sanju Cyriac

    2012-01-01

    Full Text Available Familial testicular germ cell tumors are well known in literature. Only few cases are reported where both brother and sister of the same family suffered from germ cell malignancies. We present a family where the proband is a survivor of ovarian dysgerminoma stage IA. Her elder male sibling became acutely ill and was detected to have disseminated testicular malignancy with grossly elevated markers and vegetations in the mitral valve leaflets. Despite all measures he could not be saved. Presence of germ cell malignancies in the siblings of different sex in the same family points toward a genetic susceptibility. Literature review revealed only six similar cases. A discussion regarding the rare occurrence of familial germ cell malignancies with the affected family members may be worthwhile.

  15. Gender and family stability

    OpenAIRE

    Livia Sz. Oláh

    2001-01-01

    The increasing trend of partnership disruption among families with children in recent decades has been accompanied by substantial changes in traditional gender roles in industrialized countries. Yet, relatively little is known about the effects of changing gender relations on family stability in the European context. In this paper, we study such gender influences at the familial and societal level in Sweden and Hungary between the mid-1960s and the early 1990s. We focus on the disruption of t...

  16. The family lecture.

    Science.gov (United States)

    Rose, Nancy E

    2002-10-01

    SUMMARY This paper describes a lecture about my extended family, in which I discuss a variety of configurations consisting of lesbian, gay, and bisexual adults, and our children. It raises an array of issues, including alternative insemination, biological and nonbiological parentage, donors and birthmothers, adoption, co-parenting and blended families, significant others, and gay marriage and domestic partnership. It helps many students obtain both a more expansive sense of family and adeeper understanding of homophobia. PMID:24804601

  17. Immigrant Families in Australia

    OpenAIRE

    Jock Collins

    1992-01-01

    Australia has a larger and more diverse immigrant population than most Western societies. Australia's immigration history is linked to the story of family migration as Australia sought immigrants for permanent settlement. However, it is important to aviod over-generalisation when studying immigrant families in Australia today. The main hypothesis is that in order to understand the immigrant family in Australia today it is necessary to study the intersection of factors such as ethnicity, class...

  18. Familial Transient Global Amnesia

    OpenAIRE

    Davies, R Rhys; Larner, A J

    2012-01-01

    Following an episode of typical transient global amnesia (TGA), a female patient reported similar clinical attacks in 2 maternal aunts. Prior reports of familial TGA are few, and no previous account of affected relatives more distant than siblings or parents was discovered in a literature survey. The aetiology of familial TGA is unknown. A pathophysiological mechanism akin to that in migraine attacks, comorbidity reported in a number of the examples of familial TGA, is one possibility. The st...

  19. KSF of family business

    OpenAIRE

    Boroš, Petr

    2014-01-01

    Family business is a business in which family members have a large stake in ownership and also a deciding vote on business operation. This thesis deals with what makes the family businesses thriving. The research is conducted using the Good to Great framework by Jim Collins. Based mainly on quantitative and qualitative survey of 8 Czech companies of various fields and sizes, it was discovered that there are some links between the companies' success. These findings yield a set of recommendatio...

  20. Familial germ cell tumor

    OpenAIRE

    Sanju Cyriac; Rejeev Rajendranath; A. Robert Louis; Sagar, T. G.

    2012-01-01

    Familial testicular germ cell tumors are well known in literature. Only few cases are reported where both brother and sister of the same family suffered from germ cell malignancies. We present a family where the proband is a survivor of ovarian dysgerminoma stage IA. Her elder male sibling became acutely ill and was detected to have disseminated testicular malignancy with grossly elevated markers and vegetations in the mitral valve leaflets. Despite all measures he could not be saved. Presenc...

  1. Conferences and Family Reunions

    OpenAIRE

    Sarah Sutherland

    2012-01-01

    Professional associations and conferences have similarities with and differences from families and family reunions. This comparison can illustrate some ways professional associations can approach the integration of new members and the planning of conferences in order to facilitate membership development and leadership renewal. Unlike family reunions, professional conferences are not closed events that require a shared culture in order to fully participate; they are events that should show the...

  2. How HIV Causes AIDS

    Science.gov (United States)

    ... Share this: Main Content Area How HIV Causes AIDS HIV destroys CD4 positive (CD4+) T cells, which ... and disease, ultimately resulting in the development of AIDS. Most people who are infected with HIV can ...

  3. Causes of Congenital Malformations

    OpenAIRE

    J Gordon Millichap

    2002-01-01

    The genetic epidemiology of congenital malformations (CMs) and interaction with environmental causes are reviewed from the Arkansas Center for Birth Defects, Arkansas Children’s Hospital, Little Rock, AS.

  4. What Causes Cancer?

    Science.gov (United States)

    ... this section you can get information on cigarette, cigar, and smokeless tobacco use, and learn how it ... Basics What Causes Cancer? Breast Cancer Colon/Rectum Cancer Lung Cancer Prostate Cancer Skin Cancer Show All Cancer ...

  5. Causes of Male Infertility

    Medline Plus

    Full Text Available ... Smoking Cessation Links to Professional Societies and Organizations Home › Causes of Male Infertility Dr. Roger Lobo of ... Find a Health Care Provider Back to Top Home | About Us | Reproductive Health Topics | News & Publications | Resources ...

  6. What Causes Rett Syndrome?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications What causes Rett syndrome? Skip sharing on social media links Share this: ... as bad for development as too little. Is Rett syndrome passed from one generation to the next? In ...

  7. What Causes Thyroid Cancer?

    Science.gov (United States)

    ... TOPICS Document Topics GO » SEE A LIST » Thyroid cancer risk factors What causes thyroid cancer? Can thyroid cancer be prevented? Previous Topic Thyroid cancer risk factors Next Topic Can thyroid cancer be prevented? What ...

  8. Causes of Male Infertility

    Medline Plus

    Full Text Available ... and Smoking Cessation Links to Professional Societies and Organizations Home › Causes of Male Infertility Dr. Roger Lobo ... Site Terms & Conditions of Use | Web Design and Development by The Berndt Group

  9. Cause of Flu (Influenza)

    Science.gov (United States)

    ... Skip Content Marketing Share this: Main Content Area Flu (Influenza) Cause About the Flu Virus Influenza, or flu, is a respiratory infection ... the virus. Influenza A virus. Credit: CDC Where Influenza Comes From In nature, the flu virus is ...

  10. What Causes COPD?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Causes COPD? Long-term exposure to lung irritants that damage ... Rate This Content: NEXT >> Featured Video What is COPD? 05/22/2014 Describes how COPD, or chronic ...

  11. Causes of Male Infertility

    Medline Plus

    Full Text Available ... Roger Lobo of the American Society for Reproductive Medicine covers causes of male infertility. "Understanding Infertility - The ... videos produced for the American Society for Reproductive Medicine. Looking for Additional Information? Visit our provider site ...

  12. Causes of Ataxia

    Science.gov (United States)

    ... Donate to the National Ataxia Foundation Causes of Ataxia The hereditary ataxias are genetic, which means they ... the disease is inherited as a recessive gene. Ataxia Gene Identified in 1993 The first ataxia gene ...

  13. Causes of Paralysis

    Science.gov (United States)

    ... progressive neurological disease. > Arteriovenous malformations Defects of the circulatory system that are believed to arise during fetal development. > ... skeletal muscles. > Neurofibromatosis Progressive disorder of the nervous ... Polio is caused by a virus that attacks the nerves which control motor function. > ...

  14. Frontotemporal Disorders: Causes

    Science.gov (United States)

    ... Referral Center Alzheimer's Disease Education and Referral Center Alzheimer's Disease Education and Referral Center Home About Alzheimer’s Alzheimer's Basics Causes Symptoms Diagnosis Treatment Caregiving Other Dementias Publications FAQs ...

  15. What Causes Menstrual Irregularities?

    Science.gov (United States)

    ... medications. 1 , 2 , 3 , 4 , 5 , 6 Common causes of anovulatory bleeding (absent, infrequent periods, and irregular periods) include 2 : Adolescence Uncontrolled diabetes Eating disorders Hyperthyroidism or hypothyroidism Hyperprolactinemia (an abnormally high concentration ...

  16. Vulvovaginitis: causes and management.

    OpenAIRE

    Pierce, A M; Hart, C. A.

    1992-01-01

    Over a period of 33 months in a paediatric accident and emergency department, the clinical pattern and possible causes of vulvovaginitis were studied prospectively in 200 girls presenting with genital discharge, irritation, pain, or redness. The major causes were poor hygiene and threadworms. The suspicion of sexual abuse arose in a few girls but no organisms of sexually transmitted disease were found. Urinary symptoms were common but only 20 patients had a significant bacteriuria and 40 had ...

  17. Do Institutions Cause Growth?

    OpenAIRE

    2004-01-01

    We revisit the debate over whether political institutions cause economic growth, or whether, alternatively, growth and human capital accumulation lead to institutional improvement. We find that most indicators of institutional quality used to establish the proposition that institutions cause growth are constructed to be conceptually unsuitable for that purpose. We also find that some of the instrumental variable techniques used in the literature are flawed. Basic OLS results, as well as a var...

  18. Family in contemporary society

    Directory of Open Access Journals (Sweden)

    Rabije Murati

    2016-01-01

    Full Text Available The family is part of social change and, as such changes and transform into steps with modern trends of society. Family function in a given society is structured according to the overall changes that occur in all areas of social life, not neglecting family life. The contemporary conditions impose requirements that must be met to move forward with the times that follow. In particular, should highlight the social changes that are related to the growth and advancement of the educational and professional standards, which will increase the overall impact on the family and its function. If you're looking for full responsibility of parents in the upbringing of children then it is necessary to see the conditions in which the family lives. For normal education and the rights of children with special meaning the number of members in the (quantity family. The tendency to a higher standard of economic life, a small number of children in the family and it is more than obvious that fewer family members or less have greater opportunity for parents to pay more attention to their children. One of the main roles of family, no matter where they are located in the city, village, developed or developing countries, by all means participate, intermediates and transfers the moral, social and other values in modern life.

  19. MSUD Family Support Group

    Science.gov (United States)

    ... Distributing information and raising public awareness of MSUD. Strengthening the liaison between families and professionals. Supporting newborn screening programs and research for MSUD. Visit our MSUD contacts ...

  20. Asteroid Family Physical Properties

    CERN Document Server

    Masiero, Joseph; Kasuga, Toshihiro; Parker, Alex H

    2015-01-01

    An asteroid family is typically formed when a larger parent body undergoes a catastrophic collisional disruption, and as such family members are expected to show physical properties that closely trace the composition and mineralogical evolution of the parent. Recently a number of new datasets have been released that probe the physical properties of a large number of asteroids, many of which are members of identified families. We review these data sets and the composite properties of asteroid families derived from this plethora of new data. We also discuss the limitations of the current data, and the open questions in the field.

  1. Familie og arv

    DEFF Research Database (Denmark)

    Nielsen, Linda

    1995-01-01

    Familie og arv, familie, arv, børn, ægteskab, ægtefælle, skilsmisse, formuefællesskab, forældremyndighed, fælleseje, særråden, særeje, død, uskiftet bo, underholdspligt, samliv, tvangsarv, deling......Familie og arv, familie, arv, børn, ægteskab, ægtefælle, skilsmisse, formuefællesskab, forældremyndighed, fælleseje, særråden, særeje, død, uskiftet bo, underholdspligt, samliv, tvangsarv, deling...

  2. Internationalization of Family Businesses

    DEFF Research Database (Denmark)

    Boyd, Britta; Hollensen, Svend; Goto, Toshio

    2010-01-01

    -depth qualitative interviews reveal the driving forces on both sides and show how the psychic distance can be reduced between the different parent firms including the joint venture (JV) child. The purpose of this study is to compare equal split or equity joint ventures of non-family and family firms regarding...... the formation process including competences and cultures. The study indicates what core competences of a family business matter when cooperating in equal split joint ventures. Implications for family business owners and ideas for future research are discussed....

  3. Fibrodysplasia ossificance progressiva: A familial presentation

    International Nuclear Information System (INIS)

    Fibrodysplasia ossificans progressiva is a rare disorder progressing to ossification of tissues causing disability. We report a case of father and daughter in a family presenting with this condition. The diagnosis was made with X-rays. However, Technetium-99m Methylene Diphosphonate bone scan showed extensive extra-osseous localization of tracer suggesting ossification of multiple ligaments, tendons, muscles and connective tissue

  4. Family Cluster of Mayaro Fever, Venezuela

    OpenAIRE

    Torres, Jaime R.; Russell, Kevin L.; Vasquez, Clovis; Tesh, Robert B.; Salas, Rosalba; Douglas M Watts

    2004-01-01

    A cluster of protracted migratory polyarthritis involving four adult family members occurred in January 2000 after a brief overnight outing in a rural area of Venezuela. Laboratory testing demonstrated Mayaro virus as the cause of the cluster. These results documented the first human cases of Mayaro virus in Venezuela.

  5. Genetic heterogeneity in Pakistani microcephaly families

    DEFF Research Database (Denmark)

    Sajid Hussain, M; Bakhtiar, Syeda Marriam; Farooq, Muhammad;

    2013-01-01

    Autosomal recessive primary microcephaly (MCPH) is caused by mutations in at least eight different genes involved either in cell division or DNA repair. Most mutations are identified in consanguine families from Pakistan, Iran and India. To further assess their genetic heterogeneity and mutational...

  6. Neonatal Stroke Causes Poor Midline Motor Behaviors and Poor Fine and Gross Motor Skills during Early Infancy

    Science.gov (United States)

    Chen, Chao-Ying; Lo, Warren D.; Heathcock, Jill C.

    2013-01-01

    Upper extremity movements, midline behaviors, fine, and gross motor skills are frequently impaired in hemiparesis and cerebral palsy. We investigated midline toy exploration and fine and gross motor skills in infants at risk for hemiplegic cerebral palsy. Eight infants with neonatal stroke (NS) and thirteen infants with typical development (TD)…

  7. Strengthening Families: Exploring the Impacts of Family Camp Experiences on Family Functioning and Parenting

    Science.gov (United States)

    Garst, Barry A.; Baughman, Sarah; Franz, Nancy K.; Seidel, Richard W.

    2013-01-01

    Research suggests that family camp experiences can enhance family relationships. Families often participate in family camp experiences for a vacation, as part of a therapeutic and/or intervention strategy, or to gain general enrichment or engagement. To better understand the impacts of family camp experiences on family functioning, a mixed-methods…

  8. Isolated familial pneumothorax in a Taiwanese family with Birt-Hogg-Dubé syndrome

    Directory of Open Access Journals (Sweden)

    C Y Yang

    2013-01-01

    Full Text Available Primary spontaneous pneumothorax usually occurs as a sporadic event, but may be clustered in certain families with an underlying inherited disorder. Birt-Hogg-Dubι (BHD syndrome is a rare autosomal dominant disease accounting for familial pneumothorax. BHD syndrome, caused by mutation of the folliculin gene, is characterized by skin fibrofolliculoma, pulmonary cysts, pneumothorax, and renal cancer. We describe a BHD-affected Taiwanese family with clinical and genetic study. A rare mutation of the folliculin gene was detected in the patient and members with pulmonary cysts or pneumothorax, but no skin or renal lesions were found. This mutation was reported in a Taiwanese family and might indicate a pneumothorax-predominant phenotype. Isolated pneumothorax is an uncommon initial presentation of BHD syndrome. Family history should be carefully reviewed when managing a patient with pneumothorax.

  9. The Effectiveness of “Bowen’s Family System Therapy” on Differentiation and the Functions of Families with Addicted Child

    Directory of Open Access Journals (Sweden)

    Fatemeh Ghaffari

    2010-02-01

    Full Text Available Objective: The purpose of this study was to investigate the effectiveness of Bowen’s Family System therapy on increasing of differentiation and improving of family function in families with addicted children. Method: The research design of this research was semi experimental design namely: pre test-post test with witness group. The sample was selected voluntarily among referred bachelor addicts and their family members in 4 therapeutic centers, and divided to experimental (5families with 4 members, and witness groups (5families with 4 members, randomly. The experimental group was under training on the basis of Bowen’s family system therapy in 8 sessions. Each session was done for 2 hours. The witness group was under standard treatment of national protocols of Ministry and Health and Social Welfare Organization. The differentiation questionnaire and family function assessment were administered among two groups. Results: The result showed that Bowen’s Family System therapy increased differentiation and improved the function of addicted persons and their families. Conclusion: The addicted persons and their families have low differentiation that can be caused to family dysfunction. Bowen’s Family System therapy can be useful in this purpose.

  10. Fatal familial insomnia: a seventh family.

    Science.gov (United States)

    Silburn, P; Cervenáková, L; Varghese, P; Tannenberg, A; Brown, P; Boyle, R

    1996-11-01

    A 60-year-old woman with a typical history of fatal familial insomnia (FFI) had FFI proven by histologic examination and molecular testing. Her son, who died at the age of 20 in 1978, had a rapidly progressive dementing illness without reported insomnia. He carried the characteristic mutation for FFI and is the youngest patient reported with this condition. PMID:8909452

  11. Familial Myeloma: Study of a Unique Family

    OpenAIRE

    Lynch, Henry T; Ferrara, Kelly; Barlogie, Bart; Coleman, Elizabeth A.; Lynch, Jane F.; Weisenburger, Dennis; Sanger, Warren; Watson, Patrice; Nipper, Henry; Witt, Vinetta; Thomé, Stephan

    2008-01-01

    We describe a family with five cases of multiple myeloma , three cases of monoclonal gammopathy of undetermined significance (MGUS), and five cases of prostate cancer in two generations. The putative progenitor has progeny with prostate cancer, multiple myeloma, and MGUS with two separate female partners.

  12. Vulnerability of families with children with intestinal stomas

    OpenAIRE

    Clara Ferraz Lazarini Zacarin; Willyane de Andrade Alvarenga; Renata Olzon Dionísio de Souza; Daianne Cibele de Souza Borges; Giselle Dupas

    2014-01-01

    Intestinal stomas cause transformations in the body and create specific and continuous needs for care that imply in hospitalization and surgeries. In this context, we applied the concept of family vulnerability in order to identify the vulnerability of the family living with a child who has intestinal stoma. It is a qualitative study which interviewed the mothers of children with this chronic condition. We used narrative analysis based on the concept of family vulnerability. The results displ...

  13. Impact of whooping cough on patients and their families.

    OpenAIRE

    Johnston, I D; Hill, M.; Anderson, H R; Lambert, H P

    1985-01-01

    The effects of whooping cough were studied in 21 children admitted to hospital with the disease and in their families. The illness caused considerable distress to both child and family. Parents suffered especially from fears for the life and health of their child and from serious loss of sleep. Two months after admission the child's behaviour was still disturbed, but in most cases the rest of the family had returned to normal. There was much misunderstanding and misinformation about whooping ...

  14. Designing Product Families

    DEFF Research Database (Denmark)

    Pedersen, Per Erik Elgård; Miller, Thomas Dedenroth

    1998-01-01

    foundation for the customization process, whereby the customized products become variants of a product family with a high degree of reuse and utilization of kinship between the individual variants.With this paper, we will discuss the development of platform based product families from three points of view...

  15. Family Bonding with Universities

    Science.gov (United States)

    Meer, Jonathan; Rosen, Harvey S.

    2010-01-01

    One justification offered for legacy admissions policies at universities is that that they bind entire families to the university. Proponents maintain that these policies have a number of benefits, including increased donations from members of these families. We use a rich set of data from an anonymous selective research institution to investigate…

  16. America's Family Time Famine.

    Science.gov (United States)

    Mattox, Jr., William R.

    1990-01-01

    Parents spend increasingly less time with their children because of the pressures of dual careers and single parenthood. Economic pressures and social values have affected sharing of family time. Studies show both parents and children consider spending time together the most important element in improving family life. (BC)

  17. Family Perspectives on Prematurity

    Science.gov (United States)

    Zero to Three (J), 2003

    2003-01-01

    In this article, seven families describe their experiences giving birth to and raising a premature baby. Their perspectives vary, one from another, and shift over time, depending on each family's circumstances and the baby's developmental course. Experiences discussed include premature labor, medical interventions and the NICU, bringing the baby…

  18. Helping Friends and Family

    Science.gov (United States)

    ... chapter Join our online community Helping Friends and Family Part of living well with Alzheimer’s is adjusting to your “new normal” and helping family and friends do the same. Knowing what to ...

  19. Mediated intimacy in families

    DEFF Research Database (Denmark)

    Stougaard, Malthe Kirkhoff

    2006-01-01

    interaction phenomena that unfold between children and their parents. We used cultural probes and contextual interviews to investigate the intimate acts between children and parents in three families. Our findings show that the intimate act between children and parents share a number of similarities with...... in families....

  20. Atopy and cause-specific mortality

    DEFF Research Database (Denmark)

    Skaaby, T; Husemoen, L L N; Thuesen, Betina Heinsbæk;

    2014-01-01

    BACKGROUND: Atopy is the familial or personal propensity to develop immunoglobulin E (IgE) antibodies against common environmental allergens and is associated with high risk of allergic disease. It has been proposed that atopy may have effects on risk of cardiovascular disease and cancer. OBJECTI......BACKGROUND: Atopy is the familial or personal propensity to develop immunoglobulin E (IgE) antibodies against common environmental allergens and is associated with high risk of allergic disease. It has been proposed that atopy may have effects on risk of cardiovascular disease and cancer....... OBJECTIVES: We investigated the association of atopy with all-cause and cause-specific mortality. METHODS: We included a total of 14 849 individuals from five Danish population-based cohorts with measurements of atopy defined as serum-specific IgE positivity against inhalant allergens. Participants were...... followed by linkage to the Danish Registry of Causes of Death to obtain information on mortality status and cause of death (median follow-up time 11.3 years). The relative mortality risk was estimated by Cox regression and expressed as hazard ratios, HRs (95% confidence intervals, CIs). RESULTS: A total of...