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Sample records for causing familial hemiplegic

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

    DEFF Research Database (Denmark)

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

    2011-01-01

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

  2. Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2.

    NARCIS (Netherlands)

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

    2008-01-01

    Mutations in ATP1A2, the gene coding for the Na(+)/K(+)-ATPase alpha(2)-subunit, are associated with both familial hemiplegic migraine and sporadic cases of hemiplegic migraine. In this study, we examined the functional properties of 11 ATP1A2 mutations associated with familial or sporadic

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

    DEFF Research Database (Denmark)

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

    2008-01-01

    Objective: The neuropeptide calcitonin gene-related peptide (CGRP) is a migraine trigger that plays a crucial role in migraine pathophysiology, and CGRP antagonism is efficient in the treatment of migraine attacks. Familial hemiplegic migraine (FHM) is a dominantly inherited subtype of migraine w...... without aura. This indicates that the pathophysiologic pathways underlying migraine headache in FHM may be different from the common types of migraine and questions whether CGRP antagonists would be effective in the treatment of FHM patients Udgivelsesdato: 2008/9/9...

  4. 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....

  5. Coexisting typical migraine in familial hemiplegic migraine

    DEFF Research Database (Denmark)

    Hansen, Jakob Møller; Thomsen, Lise Lykke; Olesen, Jes

    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....

  6. Transcranial Doppler sonography in familial hemiplegic migraine

    International Nuclear Information System (INIS)

    Pierelli, F.; Pauri, F.; Cupini, L.M.; Fiermonte, G.; Rizzo, P.A.

    1991-01-01

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

  7. Transcranial Doppler sonography in familial hemiplegic migraine

    Energy Technology Data Exchange (ETDEWEB)

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

    1991-02-01

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

  8. Familial hemiplegic migraine type 1 associated with parkinsonism

    DEFF Research Database (Denmark)

    Bruun, Marie; Hjermind, Lena Elisabeth; Thomsen, Carsten

    2015-01-01

    parkinsonism with rigidity, bradykinesia and a resting tremor. An MRI showed a normal substantia nigra, but a bilateral loss of substance in the basal ganglia, which is in contrast to the typically normal MRI in idiopathic Parkinson's disease. Dopamine transporter (DAT) imaging with single-photon emission...... Parkinson's disease remains unanswered.......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...

  9. 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

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

    Science.gov (United States)

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

    2015-01-01

    Familial hemiplegic migraine type 1 (FHM1) is caused by gain-of-function mutations in CaV2.1 (P/Q-type) 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 excitatory postsynaptic current were similar in homozygous and heterozygous S218L KI mice, suggesting compensatory changes in the homozygous mice. Furthermore, we reveal a unique feature of S218L KI cortical synapses which is the presence of a fraction of mutant CaV2.1 channels being open at resting potential. Our data suggest that, while the gain-of-function of evoked glutamate release may explain the facilitation of CSD in heterozygous S218L KI mice, the further facilitation of CSD in homozygous S218L KI mice is due to other CaV2.1-dependent mechanisms, that likely include Ca2+ influx at voltages sub-threshold for action

  11. Familial Hemiplegic Migraine and Recurrent Episodes of Psychosis

    DEFF Research Database (Denmark)

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

    2015-01-01

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

  12. Hemiplegic Shoulder Pain.

    Science.gov (United States)

    Wilson, Richard D; Chae, John

    2015-11-01

    Hemiplegic shoulder pain is a common complaint for stroke survivors. Many pathologies are included in the diagnosis of hemiplegic shoulder pain, and many with shoulder pain have a multifactorial cause. This article provides rehabilitation specialists with an approach to evaluation and management of those with hemiplegic shoulder pain. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. 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

  14. Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2.

    Directory of Open Access Journals (Sweden)

    Loredana Leo

    2011-06-01

    Full Text Available Familial hemiplegic migraine type 2 (FHM2 is an autosomal dominant form of migraine with aura that is caused by mutations of the α2-subunit of the Na,K-ATPase, an isoform almost exclusively expressed in astrocytes in the adult brain. We generated the first FHM2 knock-in mouse model carrying the human W887R mutation in the Atp1a2 orthologous gene. Homozygous Atp1a2(R887/R887 mutants died just after birth, while heterozygous Atp1a2(+/R887 mice showed no apparent clinical phenotype. The mutant α2 Na,K-ATPase protein was barely detectable in the brain of homozygous mutants and strongly reduced in the brain of heterozygous mutants, likely as a consequence of endoplasmic reticulum retention and subsequent proteasomal degradation, as we demonstrate in transfected cells. In vivo analysis of cortical spreading depression (CSD, the phenomenon underlying migraine aura, revealed a decreased induction threshold and an increased velocity of propagation in the heterozygous FHM2 mouse. Since several lines of evidence involve a specific role of the glial α2 Na,K pump in active reuptake of glutamate from the synaptic cleft, we hypothesize that CSD facilitation in the FHM2 mouse model is sustained by inefficient glutamate clearance by astrocytes and consequent increased cortical excitatory neurotransmission. The demonstration that FHM2 and FHM1 mutations share the ability to facilitate induction and propagation of CSD in mouse models further support the role of CSD as a key migraine trigger.

  15. 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.

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

    DEFF Research Database (Denmark)

    Bøttger, Pernille; Glerup, Simon; Gesslein, Bodil

    2016-01-01

    Migraine is a complex brain disorder, and understanding the complexity of this prevalent disease could improve quality of life for millions of people. Familial Hemiplegic Migraine type 2 (FHM2) is a subtype of migraine with aura and co-morbidities like epilepsy/seizures, cognitive impairments...

  17. Psychotic aura symptoms in familial hemiplegic migraine type 2 (ATP1A2).

    Science.gov (United States)

    Barros, José; Mendes, Alexandre; Matos, Ilda; Pereira-Monteiro, José

    2012-10-01

    Neuropsychological symptoms are rare in familial hemiplegic migraine (FHM). There are no reports of psychotic symptoms in FHM type 2 (ATP1A2). We examined a family with a FHM phenotype due to a M731T mutation in ATP1A2. A 10-year follow-up allowed us to observe complex auras, including psychotic symptoms in two siblings. Male, 48 years old, with an aura that included complex illusions with a feeling of time travelling, coincident with other aura features. The aura was regarded as mystical by the patient. Female, 38 years old, with a complex migraine aura, during which she believed she had the ability to time travel and was being followed by lobbyists who wanted to steal this ability from her. FHM type 2 must be included in the list of differential diagnoses of acute psychosis in patients with a previous history of migraine aura.

  18. 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

    patients do not show hypersensitivity of the NO-cGMP pathway, as characteristically seen in migraine patients with and without aura. This indicates that the pathophysiological pathways underlying migraine headache in FHM-1 may be different from the common types of migraine Udgivelsesdato: 2008/5......Familial hemiplegic migraine type 1 (FHM-1) is a dominantly inherited subtype of migraine with aura and transient hemiplegia associated with mutations in the CACNA1A gene. FHM-1 shares many phenotypical similarities with common types of migraine, indicating common neurobiological pathways....... Experimental studies have established that activation of the nitric oxide-cyclic guanosine monophosphate (NO-cGMP) pathway plays a crucial role in migraine pathophysiology. Therefore, we tested the hypothesis that CACNA1A mutations in patients with FHM-1 are associated with hypersensitivity to NO-cGMP pathway...

  19. Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family

    Science.gov (United States)

    Khaiboullina, Svetlana F.; Mendelevich, Elena G.; Shigapova, Leyla H.; Shagimardanova, Elena; Gazizova, Guzel; Nikitin, Alexey; Martynova, Ekaterina; Davidyuk, Yuriy N.; Bogdanov, Enver I.; Gusev, Oleg; van den Maagdenberg, Arn M. J. M.; Giniatullin, Rashid A.; Rizvanov, Albert A.

    2017-01-01

    Background: Immune mechanisms recently emerged as important contributors to migraine pathology with cytokines affecting neuronal excitation. Therefore, elucidating the profile of cytokines activated in various forms of migraine, including those with a known genetic cause, can help in diagnostic and therapeutic approaches. Methods: Here we (i) performed exome sequencing to identify the causal gene mutation and (ii) measured, using Bio-Plex technology, 22 cytokines in serum of patients with familial migraine (two with hemiplegic migraine and two with migraine with aura) from a Russian family that ethnically belongs to the Tatar population. MRI scanning was used to assess cerebellar atrophy associated with migraine in mutation carriers. Results: Whole-exome sequencing revealed the R583Q missense mutation in the CACNA1A gene in the two patients with hemiplegic migraine and cerebellar ataxia with atrophy, confirming a FHM1 disorder. Two further patients did not have the mutation and suffered from migraine with aura. Elevated serum levels of pro-inflammatory and pro-nociceptive IL-6 and IL-18 were found in all four patients (compared to a reference panel), whereas pro-apoptotic SCGF-β and TRAIL were higher only in the patients with the FHM1 mutation. Also, cytokines CXCL1, HGF, LIF, and MIF were found particularly high in the two mutation carriers, suggesting a possible role of vascular impairment and neuroinflammation in disease pathogenesis. Notably, some “algesic” cytokines, such as β-NGF and TNFβ, remained unchanged or even were down-regulated. Conclusion: We present a detailed genetic, neurological, and biochemical characterization of a small Russian FHM1 family and revealed evidence for higher levels of specific cytokines in migraine patients that support migraine-associated neuroinflammation in the pathology of migraine. PMID:28900389

  20. 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...

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

    DEFF Research Database (Denmark)

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

    2008-01-01

    the hypothesis that ATP1A2 mutations in patients with FHM-2 are associated with hypersensitivity to NO-cGMP pathway. Eight FHM-2 patients with R202Q, R763C, V138A and L764P mutations and nine healthy controls received intravenous infusions of 0.5 mu g kg(-1) min(-1) glyceryl trinitrate (GTN) over 20 min. We......Familial hemiplegic migraine type 2 (FHM-2) and common types of migraine show phenotypic similarities which may indicate a common neurobiological background. The nitric oxide-cyclic guanosine monophosphate (NO-cGMP) pathway plays a crucial role in migraine pathophysiology. Therefore, we tested...... to be higher in patients, 1 (0, 3.8), than in controls, 0 (0, 1) (P = 0.056). During the delayed phase, the median peak headache occurred 4 h after the start of the infusion and was significantly higher in patients, 2.5 (0, 3), than in controls, 0 (0, 0) (P = 0.046). We found no difference in the AUC...

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

    DEFF Research Database (Denmark)

    Bøttger, Pernille; Glerup, Simon; Gesslein, Bodil

    2016-01-01

    )) 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......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...

  3. Presynaptic CaV2.1 calcium channels carrying familial hemiplegic migraine mutation R192Q allow faster recovery from synaptic depression in mouse calyx of Held.

    Science.gov (United States)

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

    2012-12-01

    Ca(V)2.1 Ca(2+) channels have a dominant and specific role in initiating fast synaptic transmission at central excitatory synapses, through a close association between release sites and calcium sensors. Familial hemiplegic migraine type 1 (FHM-1) is an autosomal-dominant subtype of migraine with aura, caused by missense mutations in the CACNA1A gene that encodes the α(1A) pore-forming subunit of Ca(V)2.1 channel. We used knock-in (KI) transgenic mice harboring the FHM-1 mutation R192Q to study the consequences of this mutation in neurotransmission at the giant synapse of the auditory system formed by the presynaptic calyx of Held terminal and the postsynaptic neurons of the medial nucleus of the trapezoid body (MNTB). Although synaptic transmission seems unaffected by low-frequency stimulation in physiological Ca(2+) concentration, we observed that with low Ca(2+) concentrations (transmitter release. In addition, when EPSCs were evoked by broadened presynaptic action potentials (achieved by inhibition of K(+) channels) via Ca(v)2.1-triggered exocytosis, R192Q KI mice exhibited further enhancement of EPSC amplitude and charge compared with WT mice. Repetitive stimulation of afferent axons to the MNTB at different frequencies caused short-term depression of EPSCs that recovered significantly faster in R192Q KI mice than in WT mice. Faster recovery in R192Q KI mice was prevented by the calcium chelator EGTA-AM, pointing to enlarged residual calcium as a key factor in accelerating the replenishment of synaptic vesicles.

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

    DEFF Research Database (Denmark)

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

    1987-01-01

    During the course of hemiplegic migraine in 3 patients, changes in regional cerebral blood flow (rCBF) were recorded by the intracarotid 133Xe method and a 254 multidetector camera covering one hemisphere. The rCBF measurements were performed in conjunction with cerebral angiography. During...... cerebral vessels (arterioles) alternating with a normal calibre for these vessels and/or short periods of vasodilatation. It is considered to be a primary pathological condition of the vessels. When vasoconstriction was present the blood flow decreased to values consistent with ischaemia, which...

  5. MRI findings in the painful hemiplegic shoulder.

    Science.gov (United States)

    Távora, D G F; Gama, R L; Bomfim, R C; Nakayama, M; Silva, C E P

    2010-10-01

    To evaluate the magnetic resonance imaging (MRI) findings in painful hemiplegic shoulder (PHS) in hemiplegic post-stroke patients. 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. Some MRI findings were more frequent in PHS group, including synovial capsule thickening, synovial capsule enhancement, and enhancement in the rotator cuff interval. Adhesive capsulitis was found to be a possible cause of PHS. Copyright (c) 2010 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.

  6. 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.

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

    DEFF Research Database (Denmark)

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

    2008-01-01

    with aura associated with several gene mutations. FHM shares many phenotypical similarities with common types of migraine, indicating common neurobiological pathways. We tested the hypothesis that the FHM genotype confers a CGRP hypersensitive phenotype. Methods: We included 9 FHM patients with known...

  8. Macroeconomic Causes of Family Homelessness.

    Science.gov (United States)

    McChesney, Kay Young

    The welfare of American families improved steadily for over 20 years after World War II. After the War on Poverty of the 1960s, the number of people living in poverty fell, reaching its lowest point in 1973. During the 1980s, homeless families, including those living in the streets, in cars, and in shelters seemingly appeared out of nowhere. As…

  9. Causes of family refusal for organ donation.

    Science.gov (United States)

    Ghorbani, F; Khoddami-Vishteh, H R; Ghobadi, O; Shafaghi, S; Louyeh, A Rostami; Najafizadeh, K

    2011-03-01

    Family refusal represents a barrier for organ donation together with other cultural and religious factors possible ignorance and clinical obstacles. We performed this retrospective study by phone employing our organ procurement unit database, using a list of families of potential organ donors who had refused organ donation. In 2009, 146 potential organ donor families refused donation. We contacted 81 families. The main reason expressed by there families to justify the refusal to donate the deceased's organs was denial and rejection of brain-death criteria (44.4%). Other causes were believing in a miracle (13.6%); fear about organ trade and unknown organ destination (9.9%); religious beliefs (8.6%); insecutrity about the brain-death diagnosis (6.2%); unstable family mood (6.2%); unknown donor wishes about donation (4.9%); belief in body integrity after death (3.7%); and fear of objection by other family members (2.5%). Our findings showed several reasons for family refusal for organ donation; among the main cause is poor acceptance of brain death. It seems that increasing the knowledge of people about brain death and organizing strategies to confirm brain death for families are necessary to meet the organ shortage. Copyright © 2011 Elsevier Inc. All rights reserved.

  10. Recurrent LDL-receptor mutation causes familial ...

    African Journals Online (AJOL)

    1995-05-05

    May 5, 1995 ... mutation detection. Haplotype analysis with polymorphisms on both sides of the FH2 mutation indicated that the identical LDLR gene mutations found in two different South ... amplification refractory mutation system (ARMS)" and single- .... point mutations that cause familial defective apolipoprotein. 8-100 ...

  11. Causes of death in familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Galle, T S; Juel, K; Bülow, S

    1999-01-01

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

  12. The α2β2 isoform combination dominates the astrocytic Na+ /K+ -ATPase activity and is rendered nonfunctional by the α2.G301R familial hemiplegic migraine type 2-associated mutation.

    Science.gov (United States)

    Stoica, Anca; Larsen, Brian Roland; Assentoft, Mette; Holm, Rikke; Holt, Leanne Melissa; Vilhardt, Frederik; Vilsen, Bente; Lykke-Hartmann, Karin; Olsen, Michelle Lynne; MacAulay, Nanna

    2017-11-01

    Synaptic activity results in transient elevations in extracellular K + , clearance of which is critical for sustained function of the nervous system. The K + clearance is, in part, accomplished by the neighboring astrocytes by mechanisms involving the Na + /K + -ATPase. The Na + /K + -ATPase consists of an α and a β subunit, each with several isoforms present in the central nervous system, of which the α2β2 and α2β1 isoform combinations are kinetically geared for astrocytic K + clearance. While transcript analysis data designate α2β2 as predominantly astrocytic, the relative quantitative protein distribution and isoform pairing remain unknown. As cultured astrocytes altered their isoform expression in vitro, we isolated a pure astrocytic fraction from rat brain by a novel immunomagnetic separation approach in order to determine the expression levels of α and β isoforms by immunoblotting. In order to compare the abundance of isoforms in astrocytic samples, semi-quantification was carried out with polyhistidine-tagged Na + /K + -ATPase subunit isoforms expressed in Xenopus laevis oocytes as standards to obtain an efficiency factor for each antibody. Proximity ligation assay illustrated that α2 paired efficiently with both β1 and β2 and the semi-quantification of the astrocytic fraction indicated that the astrocytic Na + /K + -ATPase is dominated by α2, paired with β1 or β2 (in a 1:9 ratio). We demonstrate that while the familial hemiplegic migraine-associated α2.G301R mutant was not functionally expressed at the plasma membrane in a heterologous expression system, α2 +/G301R mice displayed normal protein levels of α2 and glutamate transporters and that the one functional allele suffices to manage the general K + dynamics. © 2017 Wiley Periodicals, Inc.

  13. Sonographic findings of painful hemiplegic shoulder after stroke.

    Science.gov (United States)

    Lin, Pei-Hsin

    2017-12-04

    Hemiplegic shoulder pain is common in stroke patients and can influence rehabilitation outcome. The underlying pathology can be various: in addition to impaired motor control and altered peripheral and central nervous activity, soft tissue lesions may also play an important role. It remains unclear how these pathologies may interact or correlate with each other. This retrospective study collected data from 26 stroke patients who received sonography examination due to shoulder pain. Severity of soft tissue lesion over the shoulder joint was graded on the basis of the sonographic findings. The information regarding cognition, sensory function, spasticity (measured by the Modified Ashworth Scale) and the Brunnstrom stage of motor recovery was collected though medical chart review. This study examined the association between sonographic findings and the clinical findings. This study showed that sonographic grading of painful hemiplegic shoulder is not statistically associated with impaired cognition and sensory function. (P value = 0.0587 and 0.9776, respectively) In addition, there is no correlation between sonographic grading and motor recovery in patients with hemiplegic shoulder pain. (Spearman's correlation coefficient = -0.0053, P value = 0.9796) Neither is there any statistically significant correlation between sonographic grading and the degree of spasticity. (Spearman's correlation coefficient = -0.0311, P value = 0.8801). The results of this study suggests that the mechanism through which soft tissue lesions causes hemiplegic shoulder pain may be independent of the mechanisms through which changes of muscle tone and nervous activity causes shoulder pain. Copyright © 2017. Published by Elsevier Taiwan LLC.

  14. Familial hemiplegic migraine type 2 (FHM2) associated mutation in the 2 isoform of Na,KATPase leads to elevated contractility and vasodilatation

    DEFF Research Database (Denmark)

    Hangaard, Lise; Lykke-Hartmann, Karin; Xie, Zijian

    The vasogenic theory of migraine suggests that the aura (a phase preceding the headache and characterized by visual, sensory and/or motor disturbances) is associated with vasoconstrictioninduced hypoxemia in the brain, while the subsequent headache is caused by a rebound vasodilation. FHM 2...

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

    OpenAIRE

    Victoria Omranifard; Mohsen Yazdani; Mohammad Yaghoubi; Mahshid Namdari

    2008-01-01

    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 ...

  16. 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.

  17. [Mirror therapy in hemiplegic patient].

    Science.gov (United States)

    Lisalde-Rodríguez, María Elena; Garcia-Fernández, José Antonio

    2016-01-01

    Mirror therapy is a relatively new intervention, every time more used and with easy access for the rehabilitation treatment of stroke patient. The patient moves the unaffected limb in front of a mirror watching the reflection of that move as if he was moving de affected limb. To analyze the effectiveness of mirror therapy in the sensorimotor function, hemineglect and activities of daily living of stroke patients. We defined a strategy of bibliography search in Medline, EMBASE, PEDro y Cochrane Central Register of Controlled Trials (CENTRAL) looking for randomised controlled trials (RCT) conducted with hemiplegic patients considering mirror therapy as the main rehabilitation intervention. Seven trials met the inclusion criteria with medium-high methodological quality. Most of them evaluate the mirror therapy effect on motor outcomes showing significant improvements. Three of this RCTs evaluate the effect of mirror therapy on the hemineglect with positive result. A combination of mirror therapy with conventional rehabilitation obtained significant improvements mainly in motor function but not that much on sensory function and functional performance. About the effect of mirror therapy on hemineglect, there are significant improvements but supported only with a few RCTs with small sample sizes producing promising but inconclusive results.

  18. A neurocognitive perspective on developmental disregard in children with hemiplegic cerebral palsy

    NARCIS (Netherlands)

    Houwink, A.; Aarts, P.B.M.; Geurts, A.C.H.; Steenbergen, B.

    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

  19. 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…

  20. Genetics Home Reference: familial hemiplegic migraine

    Science.gov (United States)

    ... Plomp JJ, Frants RR, van den Maagdenberg AM, Ferrari MD. Genetic models of migraine. Arch Neurol. 2007 ... van den Maagdenberg AM, Haan J, Terwindt GM, Ferrari MD. Migraine: gene mutations and functional consequences. Curr ...

  1. 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.)

  2. Perfusion-weighted MR imaging in persistent hemiplegic migraine

    International Nuclear Information System (INIS)

    Mourand, Isabelle; Menjot de Champfleur, Nicolas; Carra-Dalliere, Clarisse; Le Bars, Emmanuelle; Bonafe, Alain; Thouvenot, Eric; Roubertie, Agathe

    2012-01-01

    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.)

  3. Brain atrophy following hemiplegic migraine attacks

    NARCIS (Netherlands)

    Pelzer, Nadine; Hoogeveen, Evelien S.; Ferrari, Michel D.; Poll-The, Bwee Tien; Kruit, Mark C.; Terwindt, Gisela M.

    2017-01-01

    Background Patients with hemiplegic migraine (HM) may sometimes develop progressive neurological deterioration of which the pathophysiology is unknown. Patient We report a 16-year clinical and neuroradiological follow-up of a patient carrying a de novo p.Ser218Leu CACNA1A HM mutation who had nine

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

  5. Novel GABRG2 mutations cause familial febrile seizures

    Science.gov (United States)

    Boillot, Morgane; Morin-Brureau, Mélanie; Picard, Fabienne; Weckhuysen, Sarah; Lambrecq, Virginie; Minetti, Carlo; Striano, Pasquale; Zara, Federico; Iacomino, Michele; Ishida, Saeko; An-Gourfinkel, Isabelle; Daniau, Mailys; Hardies, Katia; Baulac, Michel; Dulac, Olivier; Leguern, Eric; Nabbout, Rima

    2015-01-01

    Objective: To identify the genetic cause in a large family with febrile seizures (FS) and temporal lobe epilepsy (TLE) and subsequently search for additional mutations in a cohort of 107 families with FS, with or without epilepsy. Methods: The cohort consisted of 1 large family with FS and TLE, 64 smaller French families recruited through a national French campaign, and 43 Italian families. Molecular analyses consisted of whole-exome sequencing and mutational screening. Results: Exome sequencing revealed a p.Glu402fs*3 mutation in the γ2 subunit of the GABAA receptor gene (GABRG2) in the large family with FS and TLE. Three additional nonsense and frameshift GABRG2 mutations (p.Arg136*, p.Val462fs*33, and p.Pro59fs*12), 1 missense mutation (p.Met199Val), and 1 exonic deletion were subsequently identified in 5 families of the follow-up cohort. Conclusions: We report GABRG2 mutations in 5.6% (6/108) of families with FS, with or without associated epilepsy. This study provides evidence that GABRG2 mutations are linked to the FS phenotype, rather than epilepsy, and that loss-of-function of GABAA receptor γ2 subunit is the probable underlying pathogenic mechanism. PMID:27066572

  6. Familial gigantism caused by an NSD1 mutation.

    NARCIS (Netherlands)

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

    2005-01-01

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

  7. Perceived Causes and Health Implications of Family Violence in ...

    African Journals Online (AJOL)

    The objective of this study was to investigate the perceived causes and health implications of family violence in Ogun State of Nigeria. The sample of the study was made up of 800 married adults conveniently selected from the four geopolitical divisions of Ogun State, (Ijebu, Remo, Egba and Yewa).The respondents are 200 ...

  8. [Group therapy. Rehabilitation of heart and hemiplegic patients].

    Science.gov (United States)

    Martínez Pérez, A

    1977-01-01

    In this paper, ideas and methods for working in group psychoterapy with hemiplegics and post-heart-attack patients in a general hospital in Mexico City are outlined. With hemiplegics support therapy is used and with heart-attack-patients, learning therapy. Both groups meet once a week.

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

    Directory of Open Access Journals (Sweden)

    Christian Saleh

    2016-10-01

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

  10. Hemiplegic limb synergies in stroke patients.

    Science.gov (United States)

    Welmer, Anna-Karin; Holmqvist, Lotta Widén; Sommerfeld, Disa K

    2006-02-01

    To describe the extent to which the voluntary movements of hemiparetic stroke patients are restricted to the hemiplegic limb synergies (which are marked by the inability to master individual joint movements) described by Brunnström. The study also aimed to describe the extent to which the synergies are related to functioning. In a prospective observational study design, 64 consecutive hemiparetic stroke patients were assessed with Brunnström's hemiplegic limb synergies, the modified Ashworth scale for spasticity, the Rivermead mobility index, and the Barthel ADL index. Three months after stroke, 8 of the 64 patients were moving completely or partly within the synergies. All patients whose movements were restricted to the synergies also exhibited spasticity. Hemiparetic patients whose movements were restricted to the synergies had significantly worse functioning scores than hemiparetic patients whose movements were not restricted to the synergies although severe disabilities were seen in both groups. Three months after stroke, the voluntary movements of only 13% of hemiparetic stroke patients were restricted to the synergies. The synergies were associated with spasticity and activity limitations. The use of the synergies might only be suitable for a small fraction of hemiparetic patients-namely, those displaying spasticity.

  11. Hot-spot KIF5A mutations cause familial ALS

    Science.gov (United States)

    Yilmaz, Rüstem; Müller, Kathrin; Grehl, Torsten; Petri, Susanne; Meyer, Thomas; Grosskreutz, Julian; Weydt, Patrick; Ruf, Wolfgang; Neuwirth, Christoph; Weber, Markus; Pinto, Susana; Claeys, Kristl G; Schrank, Berthold; Jordan, Berit; Knehr, Antje; Günther, Kornelia; Hübers, Annemarie; Zeller, Daniel; Kubisch, Christian; Jablonka, Sibylle; Klopstock, Thomas; de Carvalho, Mamede; Sperfeld, Anne; Borck, Guntram; Volk, Alexander E; Dorst, Johannes; Weis, Joachim; Otto, Markus; Schuster, Joachim; Del Tredici, Kelly; Braak, Heiko; Danzer, Karin M; Freischmidt, Axel; Meitinger, Thomas; Strom, Tim M; Ludolph, Albert C; Andersen, Peter M; Weishaupt, Jochen H; Weyen, Ute; Hermann, Andreas; Hagenacker, Tim; Koch, Jan Christoph; Lingor, Paul; Göricke, Bettina; Zierz, Stephan; Baum, Petra; Wolf, Joachim; Winkler, Andrea; Young, Peter; Bogdahn, Ulrich; Prudlo, Johannes; Kassubek., Jan

    2018-01-01

    Abstract Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together with the observation that many of the disease genes associated with amyotrophic lateral sclerosis disrupt cytoskeletal function and intracellular transport, led us to hypothesize that mutations in KIF5A are also a cause of amyotrophic lateral sclerosis. Using whole exome sequencing followed by rare variant analysis of 426 patients with familial amyotrophic lateral sclerosis and 6137 control subjects, we detected an enrichment of KIF5A splice-site mutations in amyotrophic lateral sclerosis (2/426 compared to 0/6137 in controls; P = 4.2 × 10−3), both located in a hot-spot in the C-terminus of the protein and predicted to affect splicing exon 27. We additionally show co-segregation with amyotrophic lateral sclerosis of two canonical splice-site mutations in two families. Investigation of lymphoblast cell lines from patients with KIF5A splice-site mutations revealed the loss of mutant RNA expression and suggested haploinsufficiency as the most probable underlying molecular mechanism. Furthermore, mRNA sequencing of a rare non-synonymous missense mutation (predicting p.Arg1007Gly) located in the C-terminus of the protein shortly upstream of the splice donor of exon 27 revealed defective KIF5A pre-mRNA splicing in respective patient-derived cell lines owing to abrogation of the donor site. Finally, the non-synonymous single nucleotide variant rs113247976 (minor allele frequency = 1.00% in controls, n = 6137), also located in the C-terminal region [p.(Pro986Leu) in exon 26], was significantly enriched in familial amyotrophic lateral sclerosis patients (minor

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

    International Nuclear Information System (INIS)

    Altinok, Deniz; Agarwal, Ajay; Ascadi, Gyula; Luat, Aimee; Tapos, Daniela

    2010-01-01

    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. Familial microscopic hematuria caused by hypercalciuria and hyperuricosuria.

    Science.gov (United States)

    Praga, M; Alegre, R; Hernández, E; Morales, E; Domínguez-Gil, B; Carreño, A; Andrés, A

    2000-01-01

    We report 12 patients belonging to five different families in whom persistent isolated microhematuria was associated with hypercalciuria and/or hyperuricosuria. Four patients had episodes of gross hematuria, three patients had passed renal stones, and a history of nephrolithiasis was obtained in four of the families (80%). Calcium oxalate and uric acid crystals were commonly observed in the urine sediments. Urinary erythrocytes had a normal appearance on phase-microscopic examination. Reduction of calciuria and uricosuria by thiazide diuretics, allopurinol, forced fluid intake, and dietetic measures led to a persistent normalization of urine sediment with complete disappearance of hematuria. Determination of calcium and uric acid urinary excretions should be included in the study of familial hematuria.

  14. [A rare cause of hypercalcaemia: familial hypocalciuric hypercalcaemia (author's transl)].

    Science.gov (United States)

    Alexandre, C; Riffat, G; Chappard, D; Chappard, C; Fulchiron, H

    Two cases of familial hypocalciuric hypercalcaemia (FHH) in the same family are presented. This congenital disease is characterized by biochemical evidence of parathyroid toxicity but differs from primary hyperparathyroidism by the presence of normal parathyroid hormone levels. However, histomorphometric studies of transiliac bone biopsy specimens after double-labeling with tetracycline shows intensive remodelling of bone tissue with increase in osteoclastic resorption and osteoblastic apposition areas, all features identical with those observed primary hyperparathyroidism. The authors suggest hypersensitivity of target-organs (bones and kidneys) to parathyroid hormone as a probable physiopathological mechanism for FHH.

  15. Mutation in the α2 isoform of Na,K-ATPase associated Familial Hemiplegic Migraine type 2 (FHM2) leads to elevated contractility and vasodilatation of cerebral arteries in mice

    DEFF Research Database (Denmark)

    Hangaard, Lise; Lykke-Hartmann, Karin; Xie, Zijian

    The vasogenic theory of migraine suggests that the aura (a phase preceding the headache and characterized by visual, sensory and/or motor disturbances) is associated with vasoconstriction-induced hypoxemia in the brain, while the subsequent headache is caused by a rebound vasodilation. FHM 2...

  16. Ultrasonographic Findings in Hemiplegic Knees of Stroke Patients

    Directory of Open Access Journals (Sweden)

    Chao-Pin Yang

    2005-02-01

    Full Text Available Clinical and radiologic asymmetric arthritic differences between paralyzed and nonparalyzed limbs of stroke patients have been reported. Arthritic pathology aggravates motor dysfunction and compromises rehabilitation. Musculoskeletal ultrasonography plays an important role in showing soft tissue and the articular cartilage of the knee. Fifty-nine patients with either ischemic or hemorrhagic stroke-induced right or left hemiplegia were recruited to evaluate soft-tissue and intra-articular cartilage changes in hemiplegic knees of stroke patients using ultrasonography. An additional 15 subjects (30 knees without knee disease or a history of knee trauma or surgery were used as controls. There were significant differences in suprapatellar effusion and patellar tendinitis between hemiplegic and nonhemiplegic knees. Suprapatellar effusion and pes anserinus tendinitis were correlated with Brunnstrom stage. The length of time since stroke onset was not significantly correlated with positive ultrasonographic findings in hemiplegic knees. In conclusion, ultrasonography is useful for detecting periarticular soft-tissue changes and intra-articular lesions in hemiplegic knees of stroke patients.

  17. Sporadic hemiplegic migraine with normal imaging as the initial manifestation of CADASIL.

    Science.gov (United States)

    Monteiro, Cecília; Barros, José; Taipa, Ricardo; Pereira-Monteiro, José

    2012-02-01

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can be present with negative family history and, especially in younger patients, with normal brain magnetic resonance. For this reason, those CADASIL patients that present only with migraine may be misdiagnosed. In the case of migraine with motor aura, sporadic hemiplegic migraine (SHM) is one of the possible misdiagnoses. We present a case of a patient who, in the first years of her disease, met the clinical criteria for SHM. A diagnosis of CADASIL was considered only when her sister presented with headache and an unknown leukoencephalopathy. This case illustrates the need for a careful review of the clinical and family history during the follow-up of primary headaches.

  18. 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...

  19. 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.

  20. A survey of the current practice of intramuscular Botulinum toxin injections for hemiplegic shoulder pain in the UK.

    Science.gov (United States)

    Holmes, Richard J; Connell, Louise A

    2017-11-10

    To describe the current UK practice for the use of intramuscular Botulinum Toxin type A injections to treat hemiplegic shoulder pain. A UK-based cross-sectional study using an online survey. Participants (n = 68) were medical and non-medical practitioners recruited via the membership of the British Society for Rehabilitation Medicine and the British Neurotoxin Network. Data was analysed using descriptive statistics and content analysis. The majority of respondents would consider Botulinum Toxin type A for hemiplegic shoulder pain (86.8%), though most of these respondents inject for this goal infrequently (83.1%). Pectoralis major was most commonly selected to achieve this goal. Barriers to this intervention included difficulties determining the cause of pain (29.4%), difficulty isolating muscles (27.9%), and a lack of evidence (25%). The doses reported regularly deviated from guidelines and a substantial range in the volumes suggested was observed. Clinicians were mostly reliant on unstandardised measures to assess outcomes. Current UK practice of Botulinum Toxin type A injections for hemiplegic shoulder pain associated with spasticity is highly variable. There are large gaps between current practice and available evidence with regards to muscle selection and doses used. A number of areas for further investigation have been identified to progress current understanding of this intervention. Implications for rehabilitation There are wide variations in practice for this complex intervention and clinicians should consider that their individual decision-making could be based on their own beliefs rather than available evidence. Pectoralis major is most commonly injected to treat hemiplegic shoulder pain, but further evaluation is required to address whether it is the most effective. Clinicians most often use a limitation of shoulder abduction and external rotation, flexor patterning of the upper limb, and pain on passive movement to identify when hemiplegic shoulder

  1. Beliefs about causation of schizophrenia: do Indian families believe in supernatural causes?

    Science.gov (United States)

    Srinivasan, T N; Thara, R

    2001-03-01

    Beliefs about the causation of schizophrenia could influence the attitudes patients' families adopt towards the patient and may also influence their help-seeking behaviour. Indian families have been typically described as often believing in causes like supernatural forces and therefore seeking help from magico-religious healers. In the changing mental health scenario in India, this impression needs verification. Key relatives living with 254 chronic schizophrenia patients were interviewed and asked to name the causes they believed were behind the illness. A list of possible causes was provided for the families to select from, and relatives were also encouraged to mention other possible causes, not featured in the list. The possible causes identified and the factors related to attributions made were analysed. A supernatural cause was named by only 12% of the families and as the only cause by 5%. Psychosocial stress was most commonly cited cause, followed by personality defect and heredity. A small number of families (14%) could not name any cause and 39% named more than one cause. Patient gender and education, duration of illness and the key relative's education and the nature of relationship were related to the type of causal attributions made. Families living with patients suffering chronic schizophrenia receiving treatment in urban India rarely subscribe to the idea of supernatural causation of the illness. The causal attributions made by them are fairly rational and understandable, given the relative lack of exposure to proper information about the illness.

  2. Familial Hemiplegic Migraine With ATP1A2 Mutations

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-05-01

    Full Text Available Three children with prolonged hemiplegia following severe unilateral headache and having mutations in ATP1A2 are reported from UCLA School of Medicine, Los Angeles, CA; University Children’s Hospital, Zurich, Switzerland; and Wake Forest University School of Medicine, Winston-Salem, NC.

  3. Audiometric Characteristics of a Dutch Family with a New Mutation in GATA3 Causing HDR Syndrome.

    NARCIS (Netherlands)

    Beelen, E. van; Leijendeckers, J.M.; Admiraal, R.J.C.; Huygen, P.L.M.; Hoefsloot, L.H.; Pennings, R.J.E.; Snik, A.F.M.; Kunst, H.P.M.

    2014-01-01

    We present the case of a Dutch family with a new mutation (c523_528dup) in GATA3 causing HDR syndrome. HDR syndrome is characterised by hypoparathyroidism, deafness and renal defects. In this study, we describe the audiometric characteristics of 5 patients from this family. Their hearing impairment

  4. 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.

  5. Sonographic Evaluation of Structural Changes in Post-Stroke Hemiplegic Shoulders.

    Science.gov (United States)

    Idowu, Bukunmi Michael; Ayoola, Oluwagbemiga Oluwole; Adetiloye, Victor Adebayo; Komolafe, Morenikeji Adeyoyin

    2017-01-01

    Stroke and hemiplegia are frequent complications of stroke. This study was performed to sonographically evaluate post-stroke hemiplegic shoulders and explore possible relationship(s) between the sonographic findings and clinical indices. Forty-five stroke patients and 45 age- and sex-matched controls were recruited. Standard sonographic examination of both shoulders was performed to assess for joint subluxation, rotator cuff tears, tendinosis, subacromial-subdeltoid bursitis or effusion and adhesive capsulitis. Hemiplegic shoulders exhibited significantly higher number of pathologies compared to the unaffected shoulders and shoulders of controls ( p =0.000). One or more structural abnormalities were found in all 45 (100%) hemiplegic shoulders, 25 (55.6%) unaffected shoulders of the stroke subjects, and 39 (43.3%) control shoulders. The most frequent pathologies in the hemiplegic shoulders were the following: tendinosis of the long head of bicep tendon (48.9%), inferior shoulder subluxation (44.4%), co-existing subacromial-subdeltoid bursa/long head of bicep tendon sheath effusion (44.4%), and long head of bicep tendon sheath effusion only (40%). Tendinosis of the long head of bicep tendon was commoner in hemiplegic shoulders with poor motor status than those with good motor status. Hemiplegic shoulders have significantly higher number of structural abnormalities than unaffected shoulders and the shoulders of controls. Hemiplegic stroke patients should undergo ultrasonography of the hemiplegic shoulder to define the nature and extent of soft tissue injuries prior to physical therapy.

  6. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Science.gov (United States)

    Hsu, Sandy Chan; Sears, Renee L.; Lemos, Roberta R.; Quintáns, Beatriz; Huang, Alden; Spiteri, Elizabeth; Nevarez, Lisette; Mamah, Catherine; Zatz, Mayana; Pierce, Kerrie D.; Fullerton, Janice M.; Adair, John C.; Berner, Jon E.; Bower, Matthew; Brodaty, Henry; Carmona, Olga; Dobricić, Valerija; Fogel, Brent L.; García-Estevez, Daniel; Goldman, Jill; Goudreau, John L.; Hopfer, Suellen; Janković, Milena; Jaumà, Serge; Jen, Joanna C.; Kirdlarp, Suppachok; Klepper, Joerg; Kostić, Vladimir; Lang, Anthony E.; Linglart, Agnès; Maisenbacher, Melissa K.; Manyam, Bala V.; Mazzoni, Pietro; Miedzybrodzka, Zofia; Mitarnun, Witoon; Mitchell, Philip B.; Mueller, Jennifer; Novaković, Ivana; Paucar, Martin; Paulson, Henry; Simpson, Sheila A.; Svenningsson, Per; Tuite, Paul; Vitek, Jerrold; Wetchaphanphesat, Suppachok; Williams, Charles; Yang, Michele; Schofield, Peter R.; de Oliveira, João R. M.; Sobrido, María-Jesús

    2014-01-01

    Familial idiopathic basal ganglia calcification (IBGC) or Fahr’s disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2, the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC. We recruited 218 subjects from 29 IBGC-affected families of varied ancestry and collected medical history, neurological exam, and head CT scans to characterize each patient’s disease status. We screened our patient cohort for mutations in SLC20A2. Twelve novel (nonsense, deletions, missense, and splice site) potentially pathogenic variants, one synonymous variant, and one previously reported mutation were identified in 13 families. Variants predicted to be deleterious cosegregated with disease in five families. Three families showed nonsegregation with clinical disease of such variants, but retrospective review of clinical and neuroimaging data strongly suggested previous misclassification. Overall, mutations in SLC20A2 account for as many as 41 % of our familial IBGC cases. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial IBGC. Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation. PMID:23334463

  7. [Gait training and functional electric stimulation with hemiplegic patients].

    Science.gov (United States)

    Tanović, Edina

    2007-01-01

    Cerebrovascular accident (stroke) is focal neurological deficiency occurring suddenly and lasting for more than 24 hours. Among its consequences are hemiplegia, speech impairment, swallowing impairment, changes of the facial nerve, sensibility, sphincter control or physiological changes. The goals of the study are to show the place functional electrical stimulation (FES) in the rehabilitation hemiplegic patients after cerebrovascular accident. In our study we analyzed two comparative groups with 40 hemiplegic patients, the first one, control group treated only with kinezitheraphy, and the second one, tested group treated with kinezitheraphy and functional electrical stimulation. Both groups of patients were analyzed according to gender, the etiology of the cerebrovascular accident and the duration of rehabilitation. We also had special analyzed of walking by BI index. Results has shown that we had two comparative groups according to gender and the etiology of the cerebrovascular accident. The duration of rehabilitation was longer in control group (77.5% for four months, 10% for five months) which is treated with kinezitherapy than in the tested group treated with kinezitheraphy and functional electrical stimulation (80% for three months, 20% for four months). After 4 weeks of rehabilitation of hemiplegic patients there are no significant differences between groups tested by BI index. After 8 and 12 weeks of rehabilitation tested gruop of patients treated with kinezitheraphy and functional electrical stimulation showed statistically significant better results than control group by BI index. In the conclusion we can say that functional electrical stimulation and kinezitherapy is methods which is faster, more successful and with better results in gait training.

  8. 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.

  9. Grado de discapacidad en pacientes hemipléjicos del "Policlínico Docente Universitario del Cerro" Evaluation of disability in hemiplegic patients from Cerro university teaching polyclinic

    Directory of Open Access Journals (Sweden)

    Abel Estévez Perera

    2012-12-01

    hemiplegic patients who regularly went to the rehabilitation service of Cerro polyclinics from September 2009 to July 2011. The sample consisted of one hundred and twenty four over 15 years-old hemiplegic patients due to cerebrovascular disease, who were evaluated according to the Rosseton's disability scale. Those patients with mixed or sensory aphasia and those who refused to participate were excluded. Results: of the participants, 84 (67.8 % patients were independent for orientation whereas semi-dependence for movement and physical needs prevailed. For personal hygiene, 48 (38.7 % patients were dependent. Ninety two (74.2 % patients did not feel motivated to spend their leisure time in doing any activity, basically because of difficulties in living together with their relatives. Conclusions: the extent of disability of evaluated hemiplegic patients is caused by their partial dependence in terms of movement, and physical needs and by their dependence for self-care. Difficulties in coexistence and family relationships interfere with the motivation of the patients to spend their leisure time.

  10. Clinical and sonographic risk factors for hemiplegic shoulder pain: A longitudinal observational study.

    Science.gov (United States)

    Kim, Yeo Hyung; Jung, Sung Jin; Yang, Eun Joo; Paik, Nam Jong

    2014-01-01

    To identify baseline risk factors associated with hemiplegic shoulder pain during the first 6 months after a stroke and to investigate changes in these risk factors over time. Longitudinal observational study. A total of 94 patients with first-ever unilateral stroke lesion within 1 month after stroke. Clinical, radiological and sonographic evaluations were performed at baseline. Hemiplegic shoulder pain was assessed at 1, 3 and 6 months post-stroke. Associations between baseline factors and hemiplegic shoulder pain during the first 6 months and hemiplegic shoulder pain at 1, 3 and 6 months poststroke were analysed. Poor arm motor function, indicated by a poor National Institutes of Health Stroke Scale item 5 score (odds ratio (OR) = 3.0; 95% confidence interval (CI) = 1.1-7.7) and the presence of supraspinatus tendon pathology (OR = 4.2; 95% CI = 1.4-12.9), were associated with hemiplegic shoulder pain. While patients with adhesive capsulitis, glenohumeral subluxation, or long head of biceps tendon effusion showed a higher prevalence of hemiplegic shoulder pain at 1 month after stroke, those with supraspinatus tendon pathology showed a higher prevalence at 3 and 6 months. Patients at high risk of hemiplegic shoulder pain with severe arm paralysis and supraspinatus tendon pathology require more careful attention during the rehabilitation period.

  11. 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

  12. The effects of virtual reality-based bilateral arm training on hemiplegic children's upper limb motor skills.

    Science.gov (United States)

    Do, Ji-Hye; Yoo, Eun-Young; Jung, Min-Ye; Park, Hae Yean

    2016-01-01

    Hemiplegic cerebral palsy is a neurological symptom appearing on the unilateral arm and leg of the body that causes affected upper/lower limb muscle weakening and dysesthesia and accompanies tetany and difficulties in postural control due to abnormal muscle tone, and difficulties in body coordination. The purpose of this study was to examine the impact of virtual reality-based bilateral arm training on the motor skills of children with hemiplegic cerebral palsy, in terms of their upper limb motor skills on the affected side, as well as their bilateral coordination ability. The research subjects were three children who were diagnosed with hemiplegic cerebral palsy. The research followed an ABA design, which was a single-subject experimental design. The procedure consisted of a total of 20 sessions, including four during the baseline period (A1), 12 during the intervention period (B), and four during the baseline regression period (A2), For the independent variable bilateral arm training based on virtual reality, Nintendo Wii game was played for 30 minutes in each of the 12 sessions. For the dependent variables of upper limb motor skills on the affected side and bilateral coordination ability, a Wolf Motor Function Test (WMFT) was carried out for each session and the Pediatric Motor Activity Log (PMAL) was measured before and after the intervention, as well as after the baseline regression period. To test bilateral coordination ability, shooting baskets in basketball with both hands and moving large light boxes were carried out under operational definitions, with the number of shots and time needed to move boxes measured. The results were presented using visual graphs and bar graphs. The study's results indicated that after virtual reality-based bilateral arm training, improvement occurred in upper limb motor skills on the affected sides, and in bilateral coordination ability, for all of the research subjects. Measurements of the effects of sustained therapy after

  13. Deficient Pain Modulation in Patients with Chronic Hemiplegic Shoulder Pain.

    Science.gov (United States)

    Kashi, Yafit; Ratmansky, Motti; Defrin, Ruth

    2017-11-14

    Hemiplegic shoulder pain (HSP) following stroke significantly affects the individual's function and quality of life. The mechanism of HSP is not clearly understood; hence, it is unclear why HSP resolves spontaneously or following routine care in some patients, while in others it becomes persistent. The aim was therefore to study whether HSP is associated with deficient pain modulation. Thirty post-stroke patients-16 with HSP and 14 without HSP-and 20 matched controls participated. Pain adaptation and conditioned pain modulation (CPM) were measured as indicators of pain modulation, in the affected (hemiplegic) and contralateral shoulder as well as in the affected shin among post-stroke patients, and in comparable body regions among controls. Post-stroke patients also underwent functional and physical evaluation of the shoulder. Pain adaptation was absent among HSP patients, in both the painful shoulder and the affected shin, but existed in the 2 control groups. In addition, the affected shoulder and shin among the HSP group had reduced thermal sensibility compared to the contralateral regions. CPM was similar across groups. Shoulder functional status and physical status were similar for the 2 post-stroke groups. The results suggest that HSP is associated with a lack of pain adaptation, characteristic not only of the painful shoulder but also of the affected side. Although we cannot determine whether lack of pain adaptation precedes the HSP or results from it, interventions that enhance descending pain inhibition may improve management and prevent HSP chronification. © 2017 World Institute of Pain.

  14. 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.

  15. 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

  16. Family-based studies to identify genetic variants that cause congenital heart defects.

    Science.gov (United States)

    Arrington, Cammon B; Bleyl, Steven B; Brunelli, Luca; Bowles, Neil E

    2013-07-01

    Congenital heart defects (CHDs) are the most common congenital abnormalities. Analysis of large multigenerational families has led to the identification of a number of genes for CHDs. However, identifiable variations in these genes are the cause of a small proportion of cases of CHDs, suggesting significant genetic heterogeneity. In addition, large families with CHDs are rare, making the identification of additional genes difficult. Next-generation sequencing technologies will provide an opportunity to identify more genes in the future. However, the significant genetic variation between individuals will present a challenge to distinguish between 'pathogenic' and 'benign' variants. We have demonstrated that the analysis of multiple individuals in small families using combinations of algorithms can reduce the number of candidate variants to a small, manageable number. Thus, the analysis of small nuclear families or even distantly related 'sporadic' cases may begin to uncover the 'dark matter' of CHD genetics.

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

    NARCIS (Netherlands)

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

    2011-01-01

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

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

    NARCIS (Netherlands)

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

    2011-01-01

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

  19. Effect of Time Constraind Induced Therapy on Function, Coordination and Movements of Upper Limb on Hemiplegic Adults

    Directory of Open Access Journals (Sweden)

    Masoud Gharib

    2011-10-01

    Full Text Available Objectives: Stroke, is one of the major causes of disability in adults. So, the patient may prefer to use the non-involved limb to perfom selfcare & named this phenomen learned non used. Constraint induced therapy is one of the rehabilitative interventions that can be effective in restoration of the function of the involved limb in some hemiparetic post stroke patients. purpose of this study was to investigate effect of time constraind induced therapy on function, coordination and movements of upper limb on hemiplegic adults. Methods: In an interventional design, 15 hemiplegic patients attended in stracture exrcises for 2 hours a day, 5 days a week for 12 weeks in during while for 5 hours a day, 5 days a week for 12 weeks, the sound limb was restricted within an arm sling for movement & dextrity assessment were used Fugl-Meyer & Minnesota Manual Dexterity Test. Results: the results of Fugl-Meyer & Minnesota Manual Dexterity Test were significantly improved in patients, after the intervention (P<0.05. Discussion: Our study shows that using CIT in involved limb encouraged the patients to use their involved limb and improved function by conquering learned non-use of the limb. more research is necessary to define baselines or golden times for rehabilitation of the patients using CIT method.

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

    OpenAIRE

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

    2013-01-01

    [Purpose] The purpose of this study was to analyze the relationship between results of the Berg Balance Scale (BBS) and Static Balance Test (SBT) in hemiplegic patients with stroke. [Subjects] The subjects were 39 hemiplegic patients (25 men, 14 women; mean age, 69.4 ? 11.0?years) with stroke that had occurred within the preceding 6 months and who had good understanding of verbal instructions. [Methods] The SBT consists of five posture-holding tasks (sitting, stride standing, close standing, ...

  1. 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...

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

    OpenAIRE

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

    2016-01-01

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

  3. Neurophysiology of lower-limb function in hemiplegic children.

    Science.gov (United States)

    Brown, J K; Rodda, J; Walsh, E G; Wright, G W

    1991-12-01

    Equinus in hemiplegic children is multifactorial. In some cases it is due to a short muscle, in others to simple foot-drop, tonic spasticity, rigidity, compensation for a short limb, fixed flexion contracture at the hip, dominantly inherited forefoot deformity, forefoot equinus secondary to chronic toe-walking, or abnormalities of the visco-elastic properties of the muscle, with true intramuscular contracture. This neurophysiological study confirms that hemiplegia in children is not a homogeneous condition. Some have tonic spasticity; some, although stiff, show electrical silence on stretching; some appear to have a short muscle, with no hypertonicity; and others have hypertonicity in relation to position (i.e. rigidity). A short muscle is not always associated with tonic spasticity with reciprocal inhibition. Weakness can occur without spasticity. Speed of movement of toes, ankle and hip is also significantly reduced.

  4. 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.

  5. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

    Science.gov (United States)

    Gomez-Ospina, Natalia; Potter, Carol J.; Xiao, Rui; Manickam, Kandamurugu; Kim, Mi-Sun; Kim, Kang Ho; Shneider, Benjamin L.; Picarsic, Jennifer L.; Jacobson, Theodora A.; Zhang, Jing; He, Weimin; Liu, Pengfei; Knisely, A. S.; Finegold, Milton J.; Muzny, Donna M.; Boerwinkle, Eric; Lupski, James R.; Plon, Sharon E.; Gibbs, Richard A.; Eng, Christine M.; Yang, Yaping; Washington, Gabriel C.; Porteus, Matthew H.; Berquist, William E.; Kambham, Neeraja; Singh, Ravinder J.; Xia, Fan; Enns, Gregory M.; Moore, David D.

    2016-01-01

    Neonatal cholestasis is a potentially life-threatening condition requiring prompt diagnosis. Mutations in several different genes can cause progressive familial intrahepatic cholestasis, but known genes cannot account for all familial cases. Here we report four individuals from two unrelated families with neonatal cholestasis and mutations in NR1H4, which encodes the farnesoid X receptor (FXR), a bile acid-activated nuclear hormone receptor that regulates bile acid metabolism. Clinical features of severe, persistent NR1H4-related cholestasis include neonatal onset with rapid progression to end-stage liver disease, vitamin K-independent coagulopathy, low-to-normal serum gamma-glutamyl transferase activity, elevated serum alpha-fetoprotein and undetectable liver bile salt export pump (ABCB11) expression. Our findings demonstrate a pivotal function for FXR in bile acid homeostasis and liver protection. PMID:26888176

  6. Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family

    OpenAIRE

    Wang, Qiufen; Liu, Mugen; Xu, Chunsheng; Tang, Zhaohui; Liao, Yuhua; Du, Rong; Li, Wei; Wu, Xiaoyan; Wang, Xu; Liu, Ping; Zhang, Xianqin; Zhu, Jianfang; Ren, Xiang; Ke, Tie; Wang, Qing

    2005-01-01

    Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. The skeletal muscle calcium channel α-subunit gene CACNA1S is a major disease-causing gene for HypoPP, however, only three specific HypoPP-causing mutations, Arg528His, Arg1,239His and Arg1,239Gly, have been identified in CACNA1S to date. In this study, we studied a four-generation Chinese family with H...

  7. Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.

    Science.gov (United States)

    Wang, Qiufen; Liu, Mugen; Xu, Chunsheng; Tang, Zhaohui; Liao, Yuhua; Du, Rong; Li, Wei; Wu, Xiaoyan; Wang, Xu; Liu, Ping; Zhang, Xianqin; Zhu, Jianfang; Ren, Xiang; Ke, Tie; Wang, Qing; Yang, Junguo

    2005-03-01

    Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. The skeletal muscle calcium channel alpha-subunit gene CACNA1S is a major disease-causing gene for HypoPP, however, only three specific HypoPP-causing mutations, Arg528His, Arg1,239His and Arg1,239Gly, have been identified in CACNA1S to date. In this study, we studied a four-generation Chinese family with HypoPP with 43 living members and 19 affected individuals. Linkage analysis showed that the causative mutation in the family is linked to the CACNA1S gene with a LOD score of 6.7. DNA sequence analysis revealed a heterozygous C to G transition at nucleotide 1,582, resulting in a novel 1,582C-->G (Arg528Gly) mutation. The Arg528Gly mutation co-segregated with all affected individuals in the family, and was not present in 200 matched normal controls. The penetrance of the Arg528Gly mutation was complete in male mutation carriers, however, a reduced penetrance of 83% (10/12) was observed in female carriers. No differences were detected for age-at-onset and severity of the disease (frequency of symptomatic attacks per year) between male and female patients. Oral intake of KCl is effective in blocking the symptomatic attacks. This study identifies a novel Arg528Gly mutation in the CACNA1S gene that causes HypoPP in a Chinese family, expands the spectrum of mutations causing HypoPP, and demonstrates a gender difference in the penetrance of the disease.

  8. A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.

    Science.gov (United States)

    Tian, Qi; Li, Yunping; Kousar, Rizwana; Guo, Hui; Peng, Fenglan; Zheng, Yu; Yang, Xiaohua; Long, Zhigao; Tian, Runyi; Xia, Kun; Lin, Haiying; Pan, Qian

    2017-01-07

    Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachymetacarpia and mental retardation. Carrier females exhibit similar manifestations that are less severe than in affected males. Here, we report a four-generation Chinese family with multiple affected individuals presenting Nance-Horan Syndrome. Whole-exome sequencing combined with RT-PCR and Sanger sequencing was used to search for a genetic cause underlying the disease phenotype. Whole-exome sequencing identified in all affected individuals of the family a novel donor splicing site mutation (NM_198270: c.1045 + 2T > A) in intron 4 of the gene NHS, which maps to chromosome Xp22.13. The identified mutation results in an RNA processing defect causing a 416-nucleotide addition to exon 4 of the mRNA transcript, likely producing a truncated NHS protein. The donor splicing site mutation NM_198270: c.1045 + 2T > A of the NHS gene is the causative mutation in this Nance-Horan Syndrome family. This research broadens the spectrum of NHS gene mutations, contributing to our understanding of the molecular genetics of NHS.

  9. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

    Science.gov (United States)

    Ekvall, Sara; Sjörs, Kerstin; Jonzon, Anders; Vihinen, Mauno; Annerén, Göran; Bondeson, Marie-Louise

    2014-03-01

    Neurofibromatosis-Noonan syndrome (NFNS) is a rare condition with clinical features of both neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). All three syndromes belong to the RASopathies, which are caused by dysregulation of the RAS-MAPK pathway. The major gene involved in NFNS is NF1, but co-occurring NF1 and PTPN11 mutations in NFNS have been reported. Knowledge about possible involvement of additional RASopathy-associated genes in NFNS is, however, very limited. We present a comprehensive clinical and molecular analysis of eight affected individuals from three unrelated families displaying features of NF1 and NFNS. The genetic etiology of the clinical phenotypes was investigated by mutation analysis, including NF1, PTPN11, SOS1, KRAS, NRAS, BRAF, RAF1, SHOC2, SPRED1, MAP2K1, MAP2K2, and CBL. All three families harbored a heterozygous NF1 variant, where the first family had a missense variant, c.5425C>T;p.R1809C, the second family a recurrent 4bp-deletion, c.6789_6792delTTAC;p.Y2264Tfs*6, and the third family a splice-site variant, c.2991-1G>A, resulting in skipping of exon 18 and an in-frame deletion of 41 amino acids. These NF1 variants have all previously been reported in NF1 patients. Surprisingly, both c.6789_6792delTTAC and c.2991-1G>A are frequently associated with NF1, but association to NFNS has, to our knowledge, not previously been reported. Our results support the notion that NFNS represents a variant of NF1, genetically distinct from NS, and is caused by mutations in NF1, some of which also cause classical NF1. Due to phenotypic overlap between NFNS and NS, we propose screening for NF1 mutations in NS patients, preferentially when café-au-lait spots are present. © 2013 Wiley Periodicals, Inc.

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

    Directory of Open Access Journals (Sweden)

    FumikoKamijo

    2016-06-01

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

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

    International Nuclear Information System (INIS)

    Odajima, Natsu; Ishiai, Sumio; Kotera, Minoru; Furukawa, Tetsuo; Tsukagoshi, Hiroshi.

    1986-01-01

    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)

  12. Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.

    Science.gov (United States)

    Ke, Tie; Gomez, Cladelis Rubio; Mateus, Heidi Eliana; Castano, Juan Andres; Wang, Qing Kenneth

    2009-11-01

    Hypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP.

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

    Science.gov (United States)

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

    2017-01-01

    Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. WDR73 is the only gene known to cause GMS, and has never been implicated in other disease. Here we present a Chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly. Whole exome sequencing identified a WDR73 p.W371G missense mutation. The mutation is confirmed to be segregated in this family by Sanger sequencing according to a recessive inheritance pattern. It is predicted to be deleterious by multiple algorithms and affect highly conserved site. Structural modeling revealed conformational differences between the wild type protein and the p.W371G protein. Real-time PCR and Western blotting revealed altered mRNA and protein levels in mutated samples. Our study indicates the novel WDR73 p.W371G missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in recessive mode of inheritance. Our findings imply that microcephaly is a variable phenotype in WDR73-related disease, suggest WDR73 to be a candidate gene of severe intellectual disability and cerebellar hypoplasia, and expand the molecular spectrum of WDR73-related disease. Copyright © 2016 Elsevier B.V. All rights reserved.

  14. A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis

    Science.gov (United States)

    Gutierrez, Jeydith A; Hannoush, Zeina C; Vargas, Luis G; Momany, Allison; Garcia, Carmen C; Murray, Jeffrey C; Dunnwald, Martine

    2013-01-01

    Epidermolytic ichthyosis (EI) is a rare skin disorder characterized by generalized erythroderma and cutaneous blistering at birth, which is substituted by hyperkeratosis later in life. It is caused by autosomal dominant mutations in highly conserved regions of KRT1 and KRT10. To date, only four mutations with autosomal recessive inheritance of EI have been described in consanguineous families. All of them affect the 2B domain of KRT10. In the present study, we describe four patients with EI (including one lethal case) born from unaffected parents in a consanguineous family of a native Venezuelan community. The objective of this study was to characterize the clinical, genetic, and morphological aspects of the disease in this family, as well as understand its functional implications. Genomic DNA was sequenced for KRT10 and KRT1. Immunofluoresence for keratin expression was performed on cutaneous biopsies. After examination of cutaneous biopsies histology, our results showed hyperkeratosis and acantholysis with an expanded granular layer. Sequencing of KRT10 demonstrated a nonsense mutation (p.Tyr282Ter.) corresponding to the 1B domain of the protein in patients and a heterozygous pattern in other family members, resulting in complete absence of K10. The loss of K10 was compensated by upregulation of K14 and K17. In conclusion, this novel mutation in KRT10 is the first recessive genetic variation that is not located in the so called “hot spot” for recessive EI, suggesting that other areas of the gene are also susceptible for such mutations. PMID:23957016

  15. 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

    evaluated whether the nearest older sibling's place of birth had an independent effect on schizophrenia risk. If the cause(s) responsible for the urban-rural differences are rooted in individuals only, the nearest older sibling's place of birth should have no independent effect. In this analysis......, the 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......Many studies have identified urban-rural differences in schizophrenia risk. Hypothetical underlying cause(s) may include toxic exposures, diet, infections, and selective migration. The authors investigated whether the underlying cause(s) responsible for the urban-rural differences were rooted...

  16. Audiometric characteristics of a dutch family with a new mutation in GATA3 causing HDR syndrome.

    Science.gov (United States)

    van Beelen, E; Leijendeckers, J M; Admiraal, R J C; Huygen, P L M; Hoefsloot, L H; Pennings, R J E; Snik, A F M; Kunst, H P M

    2014-01-01

    We present the case of a Dutch family with a new mutation (c523_528dup) in GATA3 causing HDR syndrome. HDR syndrome is characterised by hypoparathyroidism, deafness and renal defects. In this study, we describe the audiometric characteristics of 5 patients from this family. Their hearing impairment was congenital, bilateral and symmetric. Audiograms showed mild-to-moderate hearing impairment with a flat audiogram configuration. Higher frequencies tended to be affected more strongly. Cross-sectional analyses showed no progression, and a mean audiogram was established. Psychophysical measurements in 3 HDR patients - including speech reception in noise, loudness scaling, gap detection and difference limen for frequency - were obtained to assess hearing function in greater detail. Overall, the results of the psychophysical measurements indicated characteristics of outer hair cell loss. CT scanning showed no anomalies in 3 of the HDR patients. Although 2 patients displayed vestibular symptoms, no anomalies in the vestibular system were found by vestibulo-ocular examination. Our results are in agreement with the theory that outer hair cell malfunctioning can play a major role in HDR syndrome.

  17. 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.

  18. REBEL WITHOUT A CAUSE: A PSYCHOANALYTIC AND FAMILY-LIFE-CYCLE VIEW OF EMERGING ADULTHOOD IN THE FILM.

    Science.gov (United States)

    Fulmer, Richard H

    2017-07-01

    The period during which grown children leave home and establish a new, self-supporting family is called emerging adulthood. This paper uses psychoanalytic concepts and family-life-cycle theory to analyze the film Rebel without a Cause () as a dramatic example of three families going through this phase. Freud's () rescue-motif of the child trying to save an endangered peer to repay his parents for having been nurtured is also characteristic of this period and is considered practice for parenting the next generation. Proximate conflict and support enable two of the film's families to continue the path to reproduce themselves. © 2017 The Psychoanalytic Quarterly, Inc.

  19. [Diabetes mellitus caused by a mutation of glucokinase gene. Report of an affected family].

    Science.gov (United States)

    Pollak C, Felipe; Lagos L, Marcela; Santos M, José L; Poggi, Helena; Urzúa C, Abraham; Rumié C, Hana

    2017-09-01

    Maturity-Onset Diabetes of the Young (MODY) refers to a heterogeneous group of monogenic diabetes. Unlike other types of MODY characterized by genetic defects in transcription factors, MODY 2 is triggered by metabolic alterations caused by mutations of glucokinase (GCK), the first enzyme of the glycolytic pathway. We report a three-generation Chilean family with multiple cases affected with this disease. The index case is a patient who presented severe neonatal hyperglycemia (831 mg/dl, without ketosis) requiring continuous infusion of insulin, which was suspended after 48 hours with normalization of blood glucose. Subsequently, continuous glucose monitoring at 4 months of age revealed 47% of tissue glucose levels above 140 mg/dl, with fasting glucose levels between 120 and 166 mg/dl. The genetic analysis revealed a previously reported mutation in heterozygous state of the GCK gene (c.148C>T; p.His50Tyr). This mutation was also identified in more than one affected relative in the last two generations, with a transmission pattern suggestive of dominant inheritance. GCK gene sequencing led to a correct molecular diagnosis of MODY 2 while bioinformatic analysis indicated the possible molecular causes of the enzyme dysfunction. The knowledge of the molecular diagnosis allowed an adequate medical treatment for this disease.

  20. Educational gains in cause-specific mortality: Accounting for cognitive ability and family-level confounders using propensity score weighting

    NARCIS (Netherlands)

    Bijwaard, G.E.; Myrskylä, M.; Tynelius, P.; Rasmussen, F.

    2017-01-01

    A negative educational gradient has been found for many causes of death. This association may be partly explained by confounding factors that affect both educational attainment and mortality. We correct the cause-specific educational gradient for observed individual background and unobserved family

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

    Science.gov (United States)

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

    2015-11-01

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

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

    Science.gov (United States)

    Kim, Min Seok; Lee, Seong Jae; 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 or more the width of that from the opposite width in the pharyngoesophageal segment more than twice on three trials of swallowing, then it was judged as having laterality. Subjects were assigned to no laterality (NL), laterality that is ipsilateral to hemiplegic side (LI), and laterality that is contralateral to hemiplegic side (LC) groups. We measured the following: prevalence of aspiration, the 8-point penetration-aspiration scale, and the functional dysphagia scale of the subjects at baseline and follow up. Results Laterality was observed in 45.7% of all patients. Among them, 52.4% were in the hemiplegic direction. There was no significant difference between groups at baseline in all measurements. When we compared the changes in all measurements on follow-up study, there were no significant differences between groups. Conclusion Through this study, we found that there was no significant relation between swallowing laterality and the severity or prognosis of swallowing difficulty. More studies for swallowing laterality on stroke patients will be needed. PMID:23185735

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

    Science.gov (United States)

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

    2010-01-01

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

  4. 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.

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

    Science.gov (United States)

    Sloan, R. L.; And Others

    1992-01-01

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

  6. Understanding inconsistent step-length asymmetries across hemiplegic stroke patients: Impairments and compensatory gait

    NARCIS (Netherlands)

    Roerdink, M.; Beek, P.J.

    2011-01-01

    Background. In hemiplegic gait, step length typically differs in magnitude between paretic and nonparetic sides. However, the direction of step-length asymmetry varies across stroke patients. Objective. The study sought to understand directional variations in step-length asymmetry in terms of

  7. 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 (pBobath 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

  8. 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…

  9. Sonographic detection of inferior subluxation in post-stroke hemiplegic shoulders.

    Science.gov (United States)

    Idowu, Bukunmi M; Ayoola, Oluwagbemiga O; Adetiloye, Victor A; Komolafe, Morenikeji A; Afolabi, Babalola I

    2017-06-01

    To evaluate the usefulness of ultrasonographic acromion-greater tuberosity distance measurement and Shoulder ratio in detecting post-stroke inferior shoulder subluxation. Forty-five hemiplegic stroke patients and 45 controls underwent shoulder sonography to measure their acromion-greater tuberosity distance. Side-to-side acromion-greater tuberosity distance differences and Shoulder ratios were derived from the acromion-greater tuberosity distance values. The long head of biceps tendon, subscapularis tendon, supraspinatus tendon, and the infraspinatus tendon were also evaluated to exclude full thickness tendon tears. Data were analyzed using the Statistical Package for Social Sciences version 20.0 for windows. Normality of data distribution was checked using the Kolmogorov-Smirnov test. Mann-Whitney U test and Chi-square tests were utilized. Hemiplegic and control shoulders' acromion-greater tuberosity distance values were 2.8 ± 0.6 cm and 2.4 ± 0.4 cm, respectively ( p = 0.001). Hemiplegic and control shoulder ratios were 1.3 ± 0.3 and 1.1 ± 0.1, respectively; p < 0.001. Point biserial correlation showed that the presence of subluxation correlated moderately with higher shoulder ratios in all the hemiplegics (r pb = 0.520; p < 0.001). Our results suggest that acromion-greater tuberosity distance measurement is useful for detecting inferior shoulder subluxation. Shoulder ratio may be of complementary or supplemental value to acromion-greater tuberosity distance difference.

  10. Does hemiplegic shoulder pain share clinical and sensory characteristics with central neuropathic pain? A comparative study.

    Science.gov (United States)

    Zeilig, Gabi; Rivel, Michal; Doron, Dana; Defrin, Ruth

    2016-10-01

    Hemiplegic shoulder pain (HSP) is a common poststroke complication and is considered to be a chronic pain syndrome. It is negatively correlated with the functional recovery of the affected arm and the quality of life of the individual. It also leads to a longer length of stay in rehabilitation. Today, there is no consensus as to the underlying mechanism causing HSP, making the syndrome difficult to treat. The aim of this study was to compare the clinical and sensory profile of individuals with HSP to that of individuals with established central neuropathic pain (CNP) in order to identify common features and the presence of neuropathic components in HSP. Cross sectional controlled study. Outpatient rehabilitation clinics. Sixteen chronic HSP patients and 18 chronic CNP patients with spinal cord injury (SCI-CNP). The chronic pain characteristics, thresholds of thermal and tactile sensations and presence of pathological sensations were compared between groups, and between painful and pain free body regions within groups. Correlations were calculated between HSP intensity and sensory and musculoskeletal characteristics. Patients with HSP and patients with SCI-CNP had similar decrease of thermal sensibility in the painful compared to intact body regions and both groups presented similar rates of pathological sensations in painful regions. HSP and SCI-CNP differed however, in the quality of pain and aggravating factors. Significant correlations were found between HSP intensity and heat-pain threshold, presence of subluxation and spasticity. The similarities between HSP and SCI-CNP and the altered spinothalamic function and sensitization suggest that HSP has neuropathic components in its mechanism. Nevertheless, the unique features of HSP point towards additional possible mechanisms. The use of specific therapy options for neuropathic pain should be considered when treating patients with HSP.

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

    Science.gov (United States)

    Mollaki, Vasiliki; Drogari, Euridiki

    2016-01-01

    Familial hypercholesterolemia (FH) is a leading cause of premature atherosclerosis. Genetic defects in the LDLR, APOB and PCSK9 genes cause FH, and confirmation of a gene defect is essential for an indisputable diagnosis of the disease. FH is underdiagnosed and we aimed to revise the genetic defects that have been characterized in FH patients of Greek origin and define an effective, future strategy for genetic studies. A literature search was performed in MEDLINE and EMBASE on genetic studies with FH patients of Greek origin. To date, no APOB and PCSK9 mutations have been found in the Greek population. It must be noted however, that only a small number of patients has been screened for PCSK9 mutations. In total, 41 LDLR defects have been characterized, with 6 common mutations c.1646G>A (p.Gly546Asp), c.858C>A (p.Ser286Arg), c.81C>G (p.Cys27Trp), c.1285G>A (p.Val429Met), c.517T>C (p.Cys173Arg), and c.1775G>A (p.Gly592Glu) that account for >80% of all mutations. Due to geographic isolation, ​founder mutations exist in a subpopulation in North West Greece and the Greek Cypriot population but not in the general population. Genetic testing should focus primarily on LDLR, and subsequently on PCSK9 and APOB. The Greek population is genetically homogeneous, which allows for a quick molecular diagnosis of the disease. Cascade screening is feasible and will certainly facilitate the identification of additional patients. Copyright © 2016 National Lipid Association. Published by Elsevier Inc. All rights reserved.

  12. Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.

    Science.gov (United States)

    Dantas, Vitor G L; Freitas, Erika L; Della-Rosa, Valter A; Lezirovitz, Karina; de Moraes, Ana Maria S M; Ramos, Silvia B; Oiticica, Jeanne; Alves, Leandro U; Pearson, Peter L; Rosenberg, Carla; Mingroni-Netto, Regina C

    2015-01-01

    To identify novel genetic causes of syndromic hearing loss in Brazil. To map a candidate chromosomal region through linkage studies in an extensive Brazilian family and identify novel pathogenic variants using sequencing and array-CGH. Brazilian pedigree with individuals affected by BO syndrome characterized by deafness and malformations of outer, middle and inner ear, auricular and cervical fistulae, but no renal abnormalities. Whole genome microarray-SNP scanning on samples of 11 affected individuals detected a multipoint Lod score of 2.6 in the EYA1 gene region (chromosome 8). Sequencing of EYA1 in affected patients did not reveal pathogenic mutations. However, oligonucleotide-array-CGH detected a duplication of 71.8Kb involving exons 4 to 10 of EYA1 (heterozygous state). Real-time-PCR confirmed the duplication in fourteen of fifteen affected individuals and absence in 13 unaffected individuals. The exception involved a consanguineous parentage and was assumed to involve a different genetic mechanism. Our findings implicate this EYA1 partial duplication segregating with BO phenotype in a Brazilian pedigree and is the first description of a large duplication leading to the BOR/BO syndrome.

  13. 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

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

    DEFF Research Database (Denmark)

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

    2014-01-01

    The neurological disorders familial hemiplegic migraine type 2 (FHM2), alternating hemiplegia of childhood (AHC), and rapid-onset dystonia parkinsonism (RDP) are caused by mutations of Na+,K+-ATPase α2- and α3-isoforms, expressed in glial and neuronal cells, respectively. Although these disorders......, addressing the question to what extent they cause a change of the intracellular Na+ and K+ concentrations ([Na+]i and [K+]i) in COS cells. C-terminal extension mutants generally showed dramatically reduced Na+ affinity without disturbance of K+ binding, as did other RDP mutants. No phosphorylation from ATP...... was observed for the +28 mutation of α2, despite a high expression level. A significant rise of [Na+]i and reduction of [K+]i was detected in cells expressing mutants with reduced Na+ affinity, and did not require a concomitant reduction of the maximal catalytic turnover rate or expression level. Moreover, two...

  15. Attributed causes for work-family conflict: emotional and behavioral outcomes

    NARCIS (Netherlands)

    Ilies, R.; de Pater, I.E.; Lim, S.; Binnewies, C.

    2012-01-01

    Work-family conflict may give rise to different emotional reactions, depending on the causal attributions people make for the experience of work-family conflict. These emotional reactions, in turn, may result in specific behavioral reactions, that may either be adaptive or maladaptive in nature. In

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

    NARCIS (Netherlands)

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

    2010-01-01

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

  17. 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…

  18. Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene

    NARCIS (Netherlands)

    de Wijn, Robert S.; Oduber, Charlène E. U.; Breugem, Corstiaan C.; Alders, Marielle; Hennekam, Raoul C. M.; van der Horst, Chantal M. A. M.

    2012-01-01

    Hereditary capillary malformations are known to be caused by mutations in the RASA1 gene. The associated phenotype is still subject of debate. The purpose of this study was to conduct a RASA1 mutation analysis in the family that led to the initial discovery of the 5q locus, and to delineate the

  19. IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family.

    Science.gov (United States)

    Li-Yang, Mei-Na; Shen, Xiao-Fei; Wei, Qin-Jun; Yao, Jun; Lu, Ya-Jie; Cao, Xin; Xing, Guang-Qian

    2015-09-20

    Nonsyndromic hearing loss (NSHL) is highly heterogeneous, in which more than 90 causative genes have currently been identified. DFNA5 is one of the deafness genes that known to cause autosomal dominant NSHL. Until date, only five DFNA5 mutations have been described in eight families worldwide. In this study, we reported the identification of a novel pathogenic mutation causing DFNA5 deafness in a five-generation Chinese family. After detailed clinical evaluations of this family, the genomic DNA of three affected individuals was selected for targeted exome sequencing of 101 known deafness genes, as well as mitochondrial DNA and microRNA regions. Co-segregation analysis between the hearing loss and the candidate variant was confirmed in available family members by direct polymerase chain reaction (PCR)-Sanger sequencing. Real-time PCR (RT-PCR) was performed to investigate the potential effect of the pathogenic mutation on messenger RNA splicing. Clinical evaluations revealed a similar deafness phenotype in this family to that of previously reported DFNA5 families with autosomal dominant, late-onset hearing loss. Molecular analysis identified a novel splice site mutation in DFNA5 intron 8 (IVS8+1 delG). The mutation segregated with the hearing loss of the family and was absent in 120 unrelated control DNA samples of Chinese origin. RT-PCR showed skipping of exon 8 in the mutant transcript. We identified a novel DFNA5 mutation IVS8+1 delG in a Chinese family which led to skipping of exon 8. This is the sixth DFNA5 mutation relates to hearing loss and the second one in DFNA5 intron 8. Our findings provide further support to the hypothesis that the DFNA5-associated hearing loss represents a mechanism of gain-of-function.

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

    OpenAIRE

    Johnson, Janel O.; Mandrioli, Jessica; Benatar, Michael; Abramzon, Yevgeniya; Van Deerlin, Vivianna M.; Trojanowski, John Q.; Gibbs, J Raphael; Brunetti, Maura; Gronka, Susan; Wuu, Joanne; Ding, Jinhui; McCluskey, Leo; Martinez-Lage, Maria; Falcone, Dana; Hernandez, Dena G.

    2010-01-01

    Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget’s disease and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mut...

  1. Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

    DEFF Research Database (Denmark)

    Pastor, Victor B; Sahoo, Sushree; Boklan, Jessica

    2017-01-01

    Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in 7 patients from 4 unrelated pedigrees presenting with myelodisplastic syndrome and loss of chromosome 7...... patients, pointing to the notion that myelodisplasia with monosomy 7 can be a sole manifestation of SAMD9L disease. Collectively, our results define a new subtype of familial myelodisplastic syndrome and provide an explanation for the phenomenon of transient monosomy 7. www.clinicaltrials.gov; #NCT00047268....

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

    Science.gov (United States)

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

    1988-01-01

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

  3. Mutations in the Human Ca{sup 2+}-sensing-receptor gene that cause familial hypocalciuric hypercalcemia

    Energy Technology Data Exchange (ETDEWEB)

    Yah-Huei Wu Chou [Chang Gung Memorial Hospital, Taoyuan (Taiwan, Province of China); Pollak, M.R.; Brown, E.M.; Seidman, J.G.; Seidman, C.E. [Harvard Univ., Boston, MA (United States); Brandi, M.L. [Univ. Florence (Italy); Toss, G.; Arnqvist, H. [Linkoping Univ. (Sweden)

    1995-05-01

    We report five novel mutations in the human Ca{sup 2+}-sensing-receptor gene that cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism. Each gene defect is a missense mutation that encodes a nonconservative amino acid alteration. These mutations are each predicted to be in the Ca{sup 2+}-sensing receptor`s large extracellular domain. In three families with FHH linked to the Ca{sup 2+}-sensing-receptor gene on chromosome 3 and in unrelated individuals probands with FHH, mutations were not detected in protein-coding sequences. On the basis of these data and previous analyses, we suggest that there are a wide range of mutations that cause FHH. Mutations that perturb the structure and function of the extracellular or transmembrane domains of the receptor and those that affect noncoding sequences of the Ca{sup 2+}-sensing-receptor gene can cause FHH. 23 refs., 2 figs., 1 tab.

  4. Key function for obstacle crossing in hemiplegic persons with varied degrees of spasticity

    OpenAIRE

    Tanaka, Hideaki; Yokogawa, Masami; Nakagawa, Takao; Ibune, Masahide; Ishiwatari, Toshihiro; Kawakita, Shinichirou

    2017-01-01

    [Purpose] To evaluate various key functions related to obstacle crossing motions in hemiplegic people based on the paralysis degree. [Subjects and Methods] Thirty-seven patients with maintenance-stage hemiplegia who could independently ambulate outdoors were included. Subjects’ crossing movements were measured using obstacles with heights of 10%, 20%, and 30% of the trochanter length. The relationship among maximal crossing height and isometric knee extension muscle strength, one leg standing...

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

    OpenAIRE

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

    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...

  6. Sonographic Evaluation of Structural Changes in Post-Stroke Hemiplegic Shoulders

    OpenAIRE

    Idowu, Bukunmi Michael; Ayoola, Oluwagbemiga Oluwole; Adetiloye, Victor Adebayo; Komolafe, Morenikeji Adeyoyin

    2017-01-01

    BACKGROUND: Stroke and hemiplegia are frequent complications of stroke. This study was performed to sonographically evaluate post-stroke hemiplegic shoulders and explore possible relationship(s) between the sonographic findings and clinical indices. MATERIAL AND METHODS: Forty-five stroke patients and 45 age- and sex-matched controls were recruited. Standard sonographic examination of both shoulders was performed to assess for joint subluxation, rotator cuff tears, tendinosis, subacromial-sub...

  7. Shock wave therapy for spastic plantar flexor muscles in hemiplegic cerebral palsy children

    OpenAIRE

    Hala A. Abdel Gawad; Amel E. Abdel Karim; Amira H. Mohammed

    2015-01-01

    Background: The spastic motor type is the most common form of cerebral palsy (CP). Spastic equines foot is the most frequent deformity in ambulated children with CP. Shock wave therapy on spastic muscles of the upper limb in stroke patients provided a significant reduction in muscle tone. Aim: The present study aimed to investigate the efficiency of shock wave therapy on spastic planter flexor muscles and its relation to the gait in spastic hemiplegic cerebral palsy children. Methods: T...

  8. Sonographic detection of inferior subluxation in post-stroke hemiplegic shoulders

    Directory of Open Access Journals (Sweden)

    Bukunmi M. Idowu

    2017-06-01

    Full Text Available Aim of the study: To evaluate the usefulness of ultrasonographic acromion-greater tuberosity distance measurement and Shoulder ratio in detecting post-stroke inferior shoulder subluxation. Material and methods: Forty-five hemiplegic stroke patients and 45 controls underwent shoulder sonography to measure their acromion-greater tuberosity distance. Side-to-side acromion-greater tuberosity distance differences and Shoulder ratios were derived from the acromion-greater tuberosity distance values. The long head of biceps tendon, subscapularis tendon, supraspinatus tendon, and the infraspinatus tendon were also evaluated to exclude full thickness tendon tears. Data were analyzed using the Statistical Package for Social Sciences version 20.0 for windows. Normality of data distribution was checked using the Kolmogorov–Smirnov test. Mann–Whitney U test and Chi-square tests were utilized. Results: Hemiplegic and control shoulders’ acromion-greater tuberosity distance values were 2.8 ± 0.6 cm and 2.4 ± 0.4 cm, respectively (p = 0.001. Hemiplegic and control shoulder ratios were 1.3 ± 0.3 and 1.1 ± 0.1, respectively; p < 0.001. Point biserial correlation showed that the presence of subluxation correlated moderately with higher shoulder ratios in all the hemiplegics (rpb = 0.520; p < 0.001. Conclusion: Our results suggest that acromion-greater tuberosity distance measurement is useful for detecting inferior shoulder subluxation. Shoulder ratio may be of complementary or supplemental value to acromion-greater tuberosity distance difference.

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

    OpenAIRE

    Mohamed Ali Elshafey

    2014-01-01

    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: ...

  10. Effect of lower limb rehabilitation robot on lower limb motor function of hemiplegic patients after stroke

    Directory of Open Access Journals (Sweden)

    Jian-liang LU

    2017-07-01

    Full Text Available Objective To observe the rehabilitation effect of lower limb rehabilitation robot training on the lower limb motor function of hemiplegic patients after stroke. Methods A total of 60 stroke patients (duration < 6 months accepted conventional rehabilitation training combined with body weight support treadmill training (BWSTT group, N = 30 or conventional rehabilitation training combined with lower limb rehabilitation robot training (Robot group, N = 30. Fugl - Meyer Assessment Scale for Lower Extremity (FMA-LE was used to evaluate lower limb motor function. Berg Balance Scale (BBS was used to evaluate balance function. Lower limb rehabilitation robot torque feedback system was used to evaluate lower limb muscle strength. All evaluations were performed before and after 8-week training.   Results Compared with before training, the FMA-LE score (P = 0.000, BBS score (P = 0.000, hemiplegic side of hip joint feedback torque value (HJTV, P = 0.000 and knee joint feedback torque value (KJTV, P = 0.000 were increased in both groups after 8-week training. Compared with BWSTT group, the hemiplegic side of HJTV (P = 0.000 and KJTV (P = 0.000 were increased in Robot group after 8-week training, while the FMA-LE score (P = 0.118 and BBS score (P = 0.159 had no statistically significant difference between 2 groups.  Conclusions The lower limb rehabilitation robot or body weight support treadmill training combined with conventional rehabilitation training could improve the lower limb motor function of hemiplegic patients after stroke. The lower limb rehabilitation robot training was better than body weight support treadmill training on the recovery of lower limb muscle strength. DOI: 10.3969/j.issn.1672-6731.2017.05.004  

  11. A missense mutation in the Ca-sensing receptor gene causes familial autosomal dominant hypoparathyroidism

    Energy Technology Data Exchange (ETDEWEB)

    Perry, Y.M.; Finegold, D.N.; Armitage, M.M. [Univ. of Pittsburgh, PA (United States)] [and others

    1994-09-01

    A large family was identified in which hypoparathyroidism was observed to segregate as an autosomal dominant trait in 3 generations. Linkage analysis using short tandem repeat polymorphisms linked the disease phenotype to chromosomal region 3q13. This region contains a newly identified Ca-sensing receptor (PCAR1) gene. This receptor regulates the secretion of parathyroid hormone from parathyroid cells in response to extracellular ionized Ca concentration ([Ca{sup +2}]). PCR-based single stranded conformational analysis of exonic sequences of the PCAR1 gene revealed an abnormal conformer in exon 3 in affected individuals. Direct sequencing of the amplification product from an affected and an unaffected family member showed an A {yields} G transition at nucleotide 770 of the PCAR1 gene [numbering based on the bovine sequence (Genbank accession number S67307)]. This substitution created a Msp1 restriction site which cosegregated with hypoparathyroidism in this family. This substitution was not observed in unaffected family members, unrelated spouses, or unrelated population controls. This substitution is predicted to result in the replacement of a glutamine residue at amino acid 246 by an arginine residue. The Ca-sensing receptor appears to be a member of the family of seven membrane spanning G-protein linked receptors. The extracellular location of this amino acid substitution appears to produce a gain of function mutation increasing the receptor sensitivity to [Ca{sup +2}] and decreasing the calcium {open_quotes}set point{close_quotes}. This is in contrast to the loss of function mutations observed in the PCAR1 gene in pedigrees with familial hypercalcemic hypocalciuria.

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

    DEFF Research Database (Denmark)

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

    2003-01-01

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

  13. Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia

    NARCIS (Netherlands)

    Defesche, J. C.; van Diermen, D. E.; Hayden, M. R.; Kastelein, J. P.

    1996-01-01

    Of the three major Afrikaner founder mutations, responsible for more than 95% of Familial Hypercholesterolemia cases among South African Afrikaners, one mutation called V408M or FHAfrikaner-2 was identified in the Netherlands. Subsequent analysis of a group of Canadian patients of Dutch origin with

  14. Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus

    Directory of Open Access Journals (Sweden)

    Hennekam Raoul

    2008-06-01

    Full Text Available Abstract Background Genetic factors make an important contribution to the aetiology of congenital talipes equinovarus (CTEV, the most common developmental disorder of the lower limb. WNT7A was suggested as a candidate gene for CTEV on the basis of a genome-wide scan for linkage in a large multi-case family. WNT7A is a plausible candidate gene for CTEV as it provides a signal for pattern formation during limb development, and mutation in WNT7A has been reported in a number of limb malformation syndromes. Methods We investigated the role of WNT7A using a family-based linkage approach in our large series of European multi-case CTEV families. Three microsatellite markers were used, of which one (D3S2385 is intragenic, and the other two (D3S2403, D3S1252 are 700 kb 5' to the start and 20 kb from the 3' end of the gene, respectively. Ninety-one CTEV families, comprising 476 individuals of whom 211 were affected, were genotyped. LOD scores using recessive and incomplete-dominant inheritance models, and non-parametric linkage scores, excluded linkage. Results No significant evidence for linkage was observed using either parametric or non-parametric models. LOD scores for the parametric models remained strongly negative in the regions between the markers, and in the 0.5 cM intervals outside the marker map. No significant lod scores were obtained when the data were analysed allowing for heterogeneity. Conclusion Our evidence suggests that the WNT7A gene is unlikely to be a major contributor to the aetiology of familial CTEV.

  15. Clinical Features of a Family with Multiple Endocrine Neoplasia Type 2A Caused by the D631Y RET Mutation.

    Science.gov (United States)

    Ospina, Naykky Singh; Maraka, Spyridoula; Donegan, Diane; Morris, John C

    2017-10-01

    We describe a family with multiple endocrine neoplasia type 2A (MEN2A) caused by the D631Y RET mutation resulting in an atypical phenotype. The index case was a 24-year-old man with history of recurrent anaplastic ependymoma incidentally found to have the D631Y RET mutation. At first assessment, four family members had evidence of large pheochromocytomas. One patient was found to have micromedullary thyroid cancer at 79 years of age. None of the patients had primary hyperparathyroidism. Patients with MEN2A caused by a D631Y RET mutation most commonly present with pheochromocytomas. Medullary thyroid cancer is a less common part of the syndrome when compared with other RET mutations.

  16. Causes of Indiscipline in the Family and Its Effect on the Child ...

    African Journals Online (AJOL)

    The findings revealed causes of indiscipline in the home to include lack of attention/love from parents, poor parent-child relationship, corrective measure, and these characteristics can bring about indiscipline in the child. Poverty is also one of the causes of lack discipline and could bring a lot of bad character or behavior like ...

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

    Directory of Open Access Journals (Sweden)

    Luciana Z Monteiro

    2012-01-01

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

  18. TO STUDY THE EFFECT OF PLAY THERAPY AND CHILD FRIENDLY CONSTRAINT INDUCED MOMEMENT THERAPY TO IMPROVE HAND FUNCTION IN SPASTIC HEMIPLEGIC CEREBRAL PALSY CHILDREN: A COMPARATIVE STUDY

    Directory of Open Access Journals (Sweden)

    Anjuman Nahar

    2015-12-01

    Full Text Available Background: Cerebral Palsy (CP is a neurodevelopmental disorder caused by nonprogressive lesion in the developing brain. The early central nervous system (CNS damage results in chronic physical disabilities and often includes sensory impairments. In addition CP is often associated with epilepsy and abnormalities of speech, vision, and intellect; it is the selective vulnerability of the brains motor systems that defines the disorder. Child friendly CIMT involves intensive targeted practice with the involved extremity coordination above and beyond their unilateral impairments. Ply Therapy is designed for active involvement of child in performing various tasks. The aim of the study is to evaluate the effectiveness of constraint induced movement therapy and play therapy to improve hand function in spastic hemiplegic cerebral palsy children. Methods: A sample of 30 patients was divided in two groups, each group having 15 children. Convenient sampling was done on the basis of base line assessment and diagnosis of their condition. Duration of the study was 3 months and data collection started at day 0 and at the end of 90 days. Children in group A wore a bivalve plaster cast on the non-involved upper extremity from shoulder to finger tips for the entire time during the session lasting for 2 hours and the plaster cast was removed at the end of the session. B group consists of 15 subjects who received play therapy. The treatment program was conducted individually and adjusted to current needs and abilities of each of the patients. Outcomes: Box and Block test, QOM scale and AOU scale. Results: It was found that there is an improvement in the hand function on application of child friendly CIMT in the patients with spastic hemiplegic cerebral palsy which was found significant using the Mann-Whitney U test (p≤0.005. Conclusion: In this study it has been found that the use of Child friendly CIMT and PLAY THERAPY produces significant improvement in hand

  19. A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family

    OpenAIRE

    Tian, Qi; Li, Yunping; Kousar, Rizwana; Guo, Hui; Peng, Fenglan; Zheng, Yu; Yang, Xiaohua; Long, Zhigao; Tian, Runyi; Xia, Kun; Lin, Haiying; Pan, Qian

    2017-01-01

    Background Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachymetacarpia and mental retardation. Carrier females exhibit similar manifestations that are less severe than in affected males. Methods Here, we report a four-generation Chinese family with multiple affected individuals presenting Nance-Horan Syndrome. Whole-exome sequencing co...

  20. Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract

    OpenAIRE

    Hughes, Anne E.; Bradley, Declan T.; Campbell, Malcolm; Lechner, Judith; Dash, Durga P.; Simpson, David A.; Willoughby, Colin E.

    2011-01-01

    MicroRNAs (miRNAs) bind to complementary sequences within the 3′ untranslated region (UTR) of mRNAs from hundreds of target genes, leading either to mRNA degradation or suppression of translation. We found that a mutation in the seed region of miR-184 (MIR184) is responsible for familial severe keratoconus combined with early-onset anterior polar cataract by deep sequencing of a linkage region known to contain the mutation. The mutant form fails to compete with miR-205 (MIR205) for overlappin...

  1. Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family.

    Science.gov (United States)

    Noreau, Anne; La Piana, Roberta; Marcoux, Camille; Dion, Patrick A; Brais, Bernard; Bernard, Geneviève; Rouleau, Guy A

    2015-10-01

    Two French-Canadian sibs with cerebellar ataxia and dysarthria were seen in our neurogenetics clinic. The older brother had global developmental delay and spastic paraplegia. Brain MRIs from these two affected individuals showed moderate to severe cerebellar atrophy. To identify the genetic basis for their disease, we conducted a whole exome sequencing (WES) investigation using genomic DNA prepared from the affected sibs and their healthy father. We identified two mutations in the SIL1 gene, which is reported to cause Marinesco-Sjögren syndrome. This study emphasizes how the diagnosis of patients with ataxic gait and cerebellar atrophy may benefit from WES to identify the genetic cause of their condition.

  2. Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.

    Science.gov (United States)

    Lozano, Reymundo; Herman, Kristin; Rothfuss, Melanie; Rieger, Hillary; Bayrak-Toydemir, Pinar; Aprile, Davide; Fruscione, Floriana; Zara, Federico; Fassio, Anna

    2016-12-01

    TBC1D24-related disorders include a wide phenotypic ranging from mild to lethal seizure disorders, non-syndromic deafness, and composite syndromes such as DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures). The TBC1D24 gene has a role in cerebral cortex development and in presynaptic neurotransmission. Here, we present a familial case of a lethal early-onset epileptic encephalopathy, associated with two novel compound heterozygous missense variants on the TBC1D24 gene, which were detected by exome sequencing. The detailed clinical data of the three siblings is summarized in order to support the variability of the phenotype, severity, and progression of this disorder among these family members. Functional studies demonstrated that the identified novel missense mutations result in a loss of expression of the protein, suggesting a correlation between residual expression, and the disease severity. This indicates that protein expression analysis is important for interpreting genetic results when novel variants are found, as well as for complementing clinical assessment by predicting the functional impact. Further analysis is necessary to delineate the clinical presentation of individuals with TBC1D24 pathogenic variants, as well as to develop markers for diagnosis, prognosis, and potential targeted treatments. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

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

    Science.gov (United States)

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

    2014-11-01

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

  4. A Novel non-sense Mutation in Keratin 10 Causes a Familial Case of Recessive Epidermolytic Ichthyosis.

    Science.gov (United States)

    Gutierrez, Jeydith A; Hannoush, Zeina C; Vargas, Luis G; Momany, Allison; Garcia, Carmen C; Murray, Jeffrey C; Dunnwald, Martine

    2013-07-01

    Epidermolytic ichthyosis (EI) is a rare skin disorder characterized by generalized erythroderma and cutaneous blistering at birth, which is substituted by hyperkeratosis later in life. It is caused by autosomal dominant mutations in highly conserved regions of KRT1 and KRT10 . To date, only 4 mutations with autosomal recessive inheritance of EI have been described in consanguineous families. All of them affect the 2B domain of KRT10 . In the present study we describe four patients with EI (including one lethal case) born from unaffected parents in a consanguineous family of a native Venezuelan community. The objective of this study was to characterize the clinical, genetic and morphological aspects of the disease in this family, as well as understand its functional implications. Genomic DNA was sequenced for KRT10 and KRT1. Immunofluoresence for keratin expression was performed on cutaneous biopsies. After examination of cutaneous biopsies histology, our results showed hyperkeratosis and acantholysis with an expanded granular layer. Sequencing of KRT10 demonstrated a non-sense mutation (p.Tyr282Ter.) corresponding to the 1B domain of the protein in patients and a heterozygous pattern in other family members, resulting in complete absence of K10. The loss of K10 was compensated by upregulation of K14 and K17. In conclusion, this novel mutation in KRT10 is the first recessive genetic variation that is not located in the so called "hot spot" for recessive EI, suggesting that other areas of the gene are also susceptible for such mutations.

  5. Familial and idiopathic colonic varices: an unusual cause of lower gastrointestinal haemorrhage.

    Science.gov (United States)

    Iredale, J P; Ridings, P; McGinn, F P; Arthur, M J

    1992-09-01

    A patient is described presenting with an acute lower gastrointestinal haemorrhage as a result of extensive colonic varices. Further investigation revealed that there were no oesophageal varices or splenomegaly. Liver biopsy showed grade II fatty change only, with no other specific or significant pathological features. Transhepatic portography showed a raised portal pressure (20 mm/Hg) but the portal system was patent throughout. There was an abnormal leash of vessels in the caecum thought to represent a variceal plexus. This patient was diagnosed as having idiopathic colonic varices. This case is discussed together with nine other reports of idiopathic colonic varices from the published literature. Four of these reports describe idiopathic colonic varices in more than one member of the same family. Possible modes of inheritance, aetiology of variceal change, natural history, and prognosis are discussed.

  6. 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.

  7. [Tinea capitis and corporis caused by Trichophyton soudanense in an immigrant family from Africa].

    Science.gov (United States)

    Faulhaber, D; Korting, H C

    1999-05-14

    Several weeks before coming to Germany the two daughters (aged 3 and 6 years) of a family from Togo had developed desquamating skin changes over the hairy scalp. These had then spread to the trunk and limbs. The 8-weeks-old son also had discrete lesions on the hairy scalp and neck. In all of them these lesions had then spread and begun to itch markedly. When first seen as out-patients the father was free of symptoms, but the other members of the family had multiple, sharply circumscribed, partly confluent, dry and desquamating lesions, about 2-4 cm in diameter, with areas of alopecia and hair breaking off at skin level. In addition there were dry, desquamating, sharply circumscribed, partly hyperpigmented, partly infiltrated plaques, 1-3 cm in diameter, disseminated over the entire body surface, but especially the neck and limbs. Typical micromorphological characteristics for T. soudanese were demonstrated in the outer zones of a primary culture and the organism was also demonstrated in culture on Sabouraud-glucose-agar. Typical colonies on Löwenstein-Jensen medium allowed differentiation from Microsporum ferrugineum. The patients were treated systemically with griseofulvin and locally with ciclopiroxolamine. Marked clinical improvement occurred within 2 months and cultures became negative. But as fungal elements were still demonstrated in native preparations from two of the patients, treatment was continued. Efficacious treatment of tinea needs reliable diagnosis of the pathogen. Human infection with T. soudanese usually results from contact with other humans. If this infection occurs in persons not from Africa there is usually the history of indirect or direct contact with Africans. Increased international migration and tourism is likely to result in more cases of this kind: this pathogen should be considered in the differential diagnosis of tinea of scalp and body.

  8. Magnitude and causes of bias among family caregivers rating Alzheimer 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

    2013-01-01

    Family caregivers generally underestimate the health and well-being of Alzheimer disease (AD) patients when compared to patients' self-assessments. The goals of this study were to identify caregiver, patient, and contextual factors associated with caregiver rating bias. One hundred five patients with AD, along with their family caregivers, were assessed twice by trained interviewers 1-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. 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. 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. Copyright © 2013 American Association for Geriatric Psychiatry. Published by Elsevier Inc. All rights reserved.

  9. CT findings of leg muscles in the hemiplegics due to cerebrovascular accidents

    International Nuclear Information System (INIS)

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

    1987-01-01

    Muscle wastings in hemiplegics due to cerebrovascular accidents were studied with CT scanning in the mid-portion of the thigh and largest-diameter section of the calf bilaterally. Muscle size and average CT density of muscle were measured. The 80 patients were classified into one of the following three stages of disability, i.e. stage 1, severely disabled (wheel-chair-bound but capable of self care [20 patients]); stage 2, moderately disabled (poorly ambulatory [41 patients]); and stage 3, mildly disabled (well ambulatory [19 patients]). Muscle cross-sectional area and CT density in both legs of non-ambulatory patients were smaller and lower than those of other groups. The atrophic change was marked in the affected side, but it was also noticeable in the non-affected side. Gracilis muscle was relatively well spared in all 3 stages. These CT findings of hemiplegics were similar to those of disuse atropy in patients with knee or hip joint lesions. Atrophy was seen first in the quadriceps in thigh and flexor muscle group in calf. These findings were similar to the systemic myogenic or neurogenic atrophies. Although gracilis and sartorius muscles were spared in these systemic deseases, only gracilis muscle was spared in hemiplegics and in patients with disuse atrophy. The ratios of the size of quadriceps, adductor group and sartorius muscle of thigh in affected side to that of non-affected side were smaller in more severely disabled group. Those of the other muscles showed no differences among each stages. In stage 3, there was significant negative correlation between the ratio of quadriceps muscle and periods from the attack. There was no relationship between the severity of the muscle atrophy and parietal lobe lesion. The atrophy is considered to be the result of disuse from immobilization. (author)

  10. Effectiveness of neuromuscular taping on painful hemiplegic shoulder: a randomised clinical trial.

    Science.gov (United States)

    Pillastrini, Paolo; Rocchi, Giulia; Deserri, Deborah; Foschi, Paola; Mardegan, Michele; Naldi, Maria Teresa; Villafañe, Jorge Hugo; Bertozzi, Lucia

    2016-08-01

    The purpose of this trial was to investigate changes in pain, the range of motion (ROM) and spasticity in people with painful hemiplegic shoulder (PHS) after the application of an upper limb neuromuscular taping (NMT). We conducted a randomised clinical trial. The study included 32 people, 31% female (mean ± SD age: 66 ± 9 years), with PHS after stroke with pain at rest and during functional movements. The experimental group received the application of NMT and a standard physical therapy programme (SPTP), whereas the control group received SPTP. The groups received four 45-minute long sessions over four weeks. The VAS, ROM and spasticity were assessed before and after the intervention with follow-up at four weeks. The experimental group had a greater reduction in pain compared to the control group at the end of the intervention, as well as at one month after the intervention (p shoulder flexion (95% CI: 37.3-22.7) at 4 weeks and by 24.8° (95% CI: 32.1-17.6) at 8 weeks as well as in abduction by 30.6° (95% CI: 37.5-23.7) at 4 weeks and 25.1° (95% CI: 33.8-16.3) at 8 weeks. Our study demonstrates that NMT decreases pain and increases the ROM in subjects with shoulder pain after a stroke. Implications for Rehabilitation Painful hemiplegic shoulder is a frequent complication after stroke with negative impacts on functional activities and on quality of life of people, moreover restricts rehabilitation intervention. Neuromuscular taping is a technique introduced by David Blow for the treatment of neuromuscoloskeletal problems. This study shows the reduction of pain and the improvement of range of motion after the application of an upper limb neuromuscular taping. Rehabilitation professionals who are involved in the management of painful hemiplegic shoulder may like to consider the benefits that neuromuscular taping can produce on upper limb.

  11. A Longitudinal Field Trial with a Hemiplegic Guitarist Using The Actuated Guitar

    DEFF Research Database (Denmark)

    Larsen, Jeppe Veirum; Knoche, Hendrik; Overholt, Daniel

    2018-01-01

    - ticipant were a right side hemiplegic man and former gui- tar player. The intervention lasted for three weeks where the participant had a fully functional electrical guitar fit- ted with a strumming device controlled by a foot pedal at his free disposal. The device replaced the right hand strumming...... and the study showed that the participant where highly motivated playing 20 sessions despite system latency and reduced musical expression. He even incorporated his own literature and equipment into his playing routine as the study progressed. He improved greatly during the sturdy. He were able to play alone...

  12. 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.

  13. Ultrasound and magnetic resonance findings and correlation in hemiplegic patients with shoulder pain.

    Science.gov (United States)

    Doğun, Asuman; Karabay, İlkay; Hatipoğlu, Cem; Özgirgin, Neşe

    2014-01-01

    The aim of this study was to evaluate the ultrasonography (US) and MRI findings in hemiplegic patients with shoulder pain and investigate the correlation between them. It is not possible for these patients to fully perform active range of motion (ROM) and stress tests, so imaging methods take center stage in diagnosis and treatment planning. A total of 68 hemiplegic patients with shoulder pain attending the inpatient rehabilitation program were included in the study. MRI and US results from the patient files were recorded. The frequency of each pathology identified by US and MRI was determined. The distribution of MRI and US findings was investigated to see whether there was a statistical difference between the correlation of MRI and US results. The mean (SD) age of the patients was 63.7 (8.3) years and the mean (SD) duration of hemiplegia was 49 (8.9) days. According to the MRI results, glenohumeral and acromioclavicular joint degeneration was found in 77.9% and 79.7% of the patients, respectively; subacromial-subdeltoid bursitis in 80.9%; fluid increase in the joint space in 41.2%; supraspinatus tendinitis in 36.8%; and supraspinatus partial rupture in 33.8%. Shoulder US findings were supraspinatus tendinitis in 54.4%, acromioclavicular joint degeneration in 26.5%, bicipital tendinitis in 20.6%, and subacromial-subdeltoid bursitis in 19.1%. There was a statistically significant difference between MRI and US findings. The results were not compatible with each other (P ≯ .05), and these findings were not consistent with each other since the kappa coefficient was under 0.40 for all these results. Although US is recommended as the first method in determining shoulder pathologies in hemiplegic patients, we suggest that MRI should be used as the first choice in hemiplegic patients with shoulder pain. MRI and US findings were not consistent, and US is dependent on the experience of the operator. MRI should be the first choice in cases where the diagnosis will affect

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

    Directory of Open Access Journals (Sweden)

    Faruk Incecik

    2013-01-01

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

  16. A novel mutation at the JK locus causing Jk null phenotype in a Chinese family.

    Science.gov (United States)

    Meng, Yan; Zhou, Xueyan; Li, Yang; Zhao, Dan; Liang, Shuyuan; Zhao, Xuejian; Yang, Baoxue

    2005-12-01

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

  17. Overexpression of the sodium chloride cotransporter is not sufficient to cause familial hyperkalemic hypertension.

    Science.gov (United States)

    McCormick, James A; Nelson, Joshua H; Yang, Chao-Ling; Curry, Joshua N; Ellison, David H

    2011-11-01

    The sodium chloride cotransporter (NCC) is the primary target of thiazides diuretics, drugs used commonly for long-term hypertension therapy. Thiazides also completely reverse the signs of familial hyperkalemic hypertension (FHHt), suggesting that the primary defect in FHHt is increased NCC activity. To test whether increased NCC abundance alone is sufficient to generate the FHHt phenotype, we generated NCC transgenic mice; surprisingly, these mice did not display an FHHt-like phenotype. Systolic blood pressures of NCC transgenic mice did not differ from those of wild-type mice, even after dietary salt loading. NCC transgenic mice also did not display hyperkalemia or hypercalciuria, even when challenged with dietary electrolyte manipulation. Administration of fludrocortisone to NCC transgenic mice, to stimulate NCC, resulted in an increase in systolic blood pressure equivalent to that of wild-type mice (approximately 20 mm Hg). Although total NCC abundance was increased in the transgenic animals, phosphorylated (activated) NCC was not, suggesting that the defect in FHHt involves either activation of ion transport pathways other than NCC, or else direct activation of NCC, in addition to an increase in NCC abundance.

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

    Science.gov (United States)

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

    2012-07-10

    Osteogenesis imperfect (OI) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation, accompanied by short stature, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, blue sclerae and hearing loss. Dominant form of OI is caused by mutations in the type I procollagen genes, COL1A1/A2. Here we identified a novel splicing mutation c.3207+1G>A (GenBank ID: JQ236861) in the COL1A1 gene that caused type I OI in a Chinese family. RNA splicing analysis proved that this mutation created a new splicing site at c.3200, and then led to frameshift. This result further enriched the mutation spectrum of type I procollagen genes. Copyright © 2012 Elsevier B.V. All rights reserved.

  19. A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.

    Science.gov (United States)

    Burnett, John R; Shan, Jing; Miskie, Brooke A; Whitfield, Amanda J; Yuan, Jane; Tran, Khai; McKnight, C James; Hegele, Robert A; Yao, Zemin

    2003-04-11

    Familial hypobetalipoproteinemia (FHBL), an autosomal co-dominant disorder, is associated with reduced plasma concentrations (<5th percentile for age and sex) of apolipoprotein (apo) B and beta-migrating lipoproteins. To date, only mutations in APOB encoding prematurely truncated apoB have been found in FHBL. We discovered a novel APOB gene mutation, namely R463W, in an extended Christian Lebanese FHBL kindred. Heterozygotes for R463W had the typical FHBL phenotype, whereas homozygotes had barely detectable apoB-100. The effect of the R463W mutation on apoB secretion was examined using transfected McA-RH7777 cells that expressed one of two recombinant human apoBs, namely B48 and B17. In both cases, the mutant proteins (B48RW and B17RW) were retained within the endoplasmic reticulum and were secreted poorly compared with their wild-type counterparts. Pulse-chase analysis showed that secretion efficiencies of B48RW and B17RW were, respectively, 45 and 40% lower than those of the wild-types. Substitution of Arg(463) with Ala in apoB-17 (B17RA) decreased secretion efficiency by approximately 50%, but substitution with Lys (B17RK) had no effect on secretion, indicating that the positive charge was important. Molecular modeling of apoB predicted that Arg(463) was in close proximity to Glu(756) and Asp(456). Substitution of Glu(756) with Gln (B17EQ) had no effect on secretion, but substitution of Asp(456) with Asn (B17DN) decreased secretion to the same extent as B17RW. In co-transfection experiments, the mutant B17RW showed increased binding to microsomal triglyceride transfer protein as compared with wild-type B17. Thus, the naturally occurring R463W mutant reveals a key local domain governing assembly and secretion of apoB-containing lipoproteins.

  20. Family child care home providers as role models for children: Cause for concern?

    Directory of Open Access Journals (Sweden)

    Alison Tovar

    2017-03-01

    Full Text Available Health behaviors associated with chronic disease, particularly healthy eating and regular physical activity, are important role modeling opportunities for individuals working in child care programs. Prior studies have not explored these risk factors in family child care home (FCCH providers which care for vulnerable and at-risk populations. To address this gap, we describe the socio-demographic and health risk behavior profiles in a sample of providers (n = 166 FCCH taken from baseline data of an ongoing cluster-randomized controlled intervention (2011–2016 in North Carolina. Data were collected during on-site visits where providers completed self-administered questionnaires (socio-demographics, physical activity, fruit and vegetable consumption, number of hours of sleep per night and perceived stress and had their height and weight measured. A risk score (range: 0–6; 0 no risk to 6 high risk was calculated based on how many of the following were present: not having health insurance, being overweight/obese, not meeting physical activity, fruit and vegetable, and sleep recommendations, and having high stress. Mean and frequency distributions of participant and FCCH characteristics were calculated. Close to one third (29.3% of providers reported not having health insurance. Almost all providers (89.8% were overweight or obese with approximately half not meeting guidelines for physical activity, fruit and vegetable consumption, and sleep. Over half reported a “high” stress score. The mean risk score was 3.39 (±1.2, with close to half of the providers having a risk score of 4, 5 or 6 (45.7%. These results stress the need to promote the health of these important care providers.

  1. Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations.

    Science.gov (United States)

    Altmann, K; Hermanns, P; Mühlenberg, R; Fricke-Otto, S; Wentzell, R; Pohlenz, J

    2013-06-01

    Congenital hypothyroidism occurs with a prevalence of approximately 1:3 500. Defects in thyroid hormone synthesis which lead to goitrous hypothyroidism account for 10-15% of these cases. Several genetic defects have been characterized and mutations in the thyroid peroxidase (TPO) gene are the most common cause for dyshormonogenesis.So far, more than 80 mutations in the TPO gene have been described, resulting in a variable decrease in TPO bioactivity. Clinically TPO defects manifest with congenital primary goitrous hypothyroidism.We here present 2 children with congenital primary hypothyroidism, who were identified to have compound heterozygous TPO mutations. They both shared the same novel mutation in the TPO gene (C756R) in exon 13. One case presented with an apparently dominant inheritance of thyroid dyshormonogenesis. © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York.

  2. A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty

    Energy Technology Data Exchange (ETDEWEB)

    Kraaij, R.; Post, M.; Grootegoed, J.A. [Erasmus Univ. Rotterdam (Netherlands)] [and others

    1995-10-01

    Patients with familial male-limited precocious puberty present with early onset of puberty. Several missense mutations in the LH receptor gene that cause amino acid substitutions in the sixth transmembrane segment of the receptor protein have been shown to be a cause of the disorder. We have identified a novel LH receptor gene mutation in a patient with familial male-limited precocious puberty that results in a threonine for methionine substitution at position 398 in the second transmembrane segment of the receptor protein. In vitro expression in human embryonic kidney 293 cells of this LH receptor mutant and two previously described LH receptor mutants showed that cAMP production in the absence of hormone was elevated up to 25-fold compared to the basal level of the wild-type receptor. The ED{sub 50} values of hormone-induced cAMP production was relatively low for mutant receptors. We also produced receptors containing amino acid substitutions in both the second and sixth transmembrane segments. For these double mutants, basal receptor activities were similar to the basal activities observed in single mutants, whereas hormone-induced receptor activation was almost completely abolished. 31 refs., 2 figs.

  3. [Mutation analysis and prenatal diagnosis in families of X-linked agammaglobulinemia caused by BTK gene mutation].

    Science.gov (United States)

    Kong, Xiangdong; Mo, Guiling; Liu, Ning; Tian, Peichao; Chen, Minfang

    2014-05-13

    To evaluate the genetic diagnostic feasibility of Bruton's tyrosine kinase (BTK) gene in three families with X-linked agammagobulinemia (XLA) birth history, mutation analysis and prenatal genetic diagnosis of BTK gene for two families with XLA. Polymerase chain reaction (PCR) was applied to amplify the regions of exon and exon-intron boundaries of BTK gene in 3 unrelated patients of XLA and their mothers from January 2011 to June 2012. The PCR products were further analyzed by direct sequencing. Prenatal genetic diagnosis was performed by chorionic villus sampling after genotyping of mothers of probands. Three novel mutations of BTK gene were identified in 3 pedigrees of XLA. A missense mutation c.1117C > A (p.L373I) were detected in pedigree 1. The mutation was possible damage by predicting in sillico. A nonsense mutation c.126T > G (p.Y42X) was found in pedigree 2. A single base deletion mutation c.1679delC (p. P560fsX10) was found in pedigree 3. The three mutations, p.L373I, p.Y42X and p. P560fsX10 were novel. The three novel mutations were absent in the 100 normal controls. The male fetus in pedigree 3 was free of mutations identical to the proband and the female fetus in pedigree 2 was a carrier. The two families continued the pregnancies and the infants showed no symptom of XLA after one year old. Three novel mutations were identified. The mutations of p.Y42X and p. P560fsX10 in BTK gene may be the major causes of pedigrees 2 and 3 with XLA. The mutation p.L373I of BTK gene is possibly the cause of pedigree 1 with XLA, but functional verification is needed. For pedigree of XLA, direct sequencing of BTK gene is available for providing genetic counseling, prenatal diagnosis.

  4. 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.

  5. 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…

  6. Immediate effect of a wrist and thumb brace on bimanual activities in children with hemiplegic cerebral palsy

    NARCIS (Netherlands)

    Louwers, Annoek; Meester-Delver, Anke; Folmer, Katinka; Nollet, Frans; Beelen, Anita

    2011-01-01

    AIM The aim of this study was to determine the immediate effect of wearing a wrist and thumb brace on the performance of bimanual activities in children with spastic hemiplegic cerebral palsy. METHOD In a pre- and post-test cohort study of 25 children (age range 4-11y; mean age 8y 4mo [SD 2y 2mo];

  7. Acute Intravenous Calcium Antagonist for Suspected Hemiplegic Migraine – A Case Story

    Directory of Open Access Journals (Sweden)

    Charlotte Lützhøft Rath

    2017-05-01

    Full Text Available Stroke mimics, like attacks of hemiplegic migraine, are challenging in acute stroke evaluation. We present a 28-year-old woman with a suspected hemiplegic migraine attack with left-sided hemiparalysis. Brain CT with perfusion imaging 1 h 54 min after symptom onset revealed hypoperfusion in the right hemisphere. The patient was treated with intravenous recombinant tissue plasminogen activator (rtPA with no effect. After a subsequent intravenous verapamil infusion, the patient gained full motor function within 10 min. Brain magnetic resonance imaging (MRI performed 5 h 46 min after symptom onset revealed diffusion restriction in the same area as the hypoperfusion on CT. There were no notable changes on T2 images. The patient stayed clinically in remission, except for reduced sensation for all modalities on the extremities on the left side. Although brain CT 24 h after symptom onset revealed an edema in the same area, an MRI performed 17 days later showed no new infarctions. Young patients with a history of migraine with aura admitted with symptoms of acute ischemic stroke are at risk of insufficient treatment. Calcium antagonists might be considered if there is no effect of first-line treatment with rtPA.

  8. Effects of Honeybee Venom Acupuncture Therapy on the Poststroke Hemiplegic Shoulder Pain

    Directory of Open Access Journals (Sweden)

    Yin, Chang-Shik

    2000-12-01

    Full Text Available Hemiplegic shoulder pain(HSP is one of the most frequent and difficult problems affecting poststroke hemiplegic patients. Honeybee venom acupuncture therapy(BVAT is known for its pain relieving effects in arthralgia. To evaluate the effectiveness of BVAT on HSP, 24 patients were sequential1y allocated into BVA T treatment group and control group and monitored for 4 weeks at time interval of initial(T0, 1 week(T1, 2 weeks(T2 and 4 weeks(T4. In treatment group, 1:10000 honeybee venom solution 0.2㎖ was injected into acupoint(s following Deqi three times a week. Kyonu(LI15 was used in the first week. Thereafter Kyonu(LI15 and Nosu(SI10 were used. Visual analogue scale of pain severity showed significant decrease in treatment group compared to control group at T2 and T4 evaluation. Painless passive range of motion of shoulder external rotation showed significant increase in treatment group compared to control group at T4 evaluation. Fugl-Meyer Motor Assessment of upper limb motor function and Modified Ashworth scale of the spasticity of upper limb showed no difference between two groups. BVAT showed as an effective therapy in HSP and further extensive clinical studies are expected.

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

    Science.gov (United States)

    Zhu, Yi; Su, Bin; Li, Ning; Jin, Hongzhu

    2013-01-01

    We selected 106 hemiplegic patients with shoulder pain hospitalized after stroke from three hospitals in Nanjing, China between February 2007 and January 2012. All 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 cerebellopontine angle. Shoulder pain, upper limb motor function, and function independence were significantly improved after comprehensive rehabilitation. In particular, electroacupuncture based on basic physical therapy exhibited efficacy on shoulder tion and complex regional pain syndrome. Multiple linear regression results showed a negative relationship 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. PMID:25206549

  10. [Effects of jingjin acupuncture on fine activity of hemiplegic hand in recovery period of stroke].

    Science.gov (United States)

    Zhao, Yan-Ling; Li, Wen-Chun; Huang, Juan; Fu, Zai-Li; Tan, Ling-Qiong; Tang, Zhao-An; He, Jun-Feng

    2014-02-01

    To observe improved effects of Jingjin acupuncture on fine activity of hemiplegic hand in recovery period of stroke. Fifty cases were randomly divided into an observation group and a control group, 25 cases in each one. Regular western medicine treatment, rehabilitation training and regular acupuncture (in which Shuigou (GV 26), Baihui (GV 20), Neiguan (PC 6), etc. were selected) were applied in both groups. Additionally, muscles in palm side of affected hand, dorsal metacarpophalangeal joints and proximal interphalangeal joints were treated with acupuncture in the observation group, once every other day and electroacupuncture was applied when arrival of qi was acquired. Baxie (EX-UE 9) in the affected hand were needled in the control group, and electroacupuncture was added when arrival of qi was acquired. Ten days of treatment was considered a treatment course, and after two courses Lindmark score, Brunnstrom movement function grade, joint range of hand and Barthel index (BI) were observed in two groups. Compared before the treatment, the Lindmark score in two groups were both improved after the treatment (both P vs 6.84 +/- 2.43, 3.52 +/- 2.33 vs 2.16 +/- 2.12, 11.76 +/- 3.55 vs 9.00 +/- 3.62, all P vs (18.65 +/- 7.86) degrees, p acupuncture could effectively improve fine activity of hemiplegic hand in recovery period of stroke prove daily life ability.

  11. Acute Intravenous Calcium Antagonist for Suspected Hemiplegic Migraine - A Case Story.

    Science.gov (United States)

    Rath, Charlotte Lützhøft; He, Jun; Nordling, Mette Maria; Wienecke, Troels

    2017-01-01

    Stroke mimics, like attacks of hemiplegic migraine, are challenging in acute stroke evaluation. We present a 28-year-old woman with a suspected hemiplegic migraine attack with left-sided hemiparalysis. Brain CT with perfusion imaging 1 h 54 min after symptom onset revealed hypoperfusion in the right hemisphere. The patient was treated with intravenous recombinant tissue plasminogen activator (rtPA) with no effect. After a subsequent intravenous verapamil infusion, the patient gained full motor function within 10 min. Brain magnetic resonance imaging (MRI) performed 5 h 46 min after symptom onset revealed diffusion restriction in the same area as the hypoperfusion on CT. There were no notable changes on T2 images. The patient stayed clinically in remission, except for reduced sensation for all modalities on the extremities on the left side. Although brain CT 24 h after symptom onset revealed an edema in the same area, an MRI performed 17 days later showed no new infarctions. Young patients with a history of migraine with aura admitted with symptoms of acute ischemic stroke are at risk of insufficient treatment. Calcium antagonists might be considered if there is no effect of first-line treatment with rtPA.

  12. The Effect of Mental Practice on Coordination of Upper Limb Movements in Hemiplegic Patients

    Directory of Open Access Journals (Sweden)

    Zahra Isargar

    2000-10-01

    Full Text Available Objective: Mental Practice (MP can be defined as the symbolic, covert, mental rehearsal of a task in the absence, overt physical rehearsal. Elements such as similar time between actual execution and mental performance of a task, the increase of regional cerebral blood flow, vegetative activation, and enhancement in muscle electromyographic (EMG activity during mental practice suggests that mental practice imitates physical performance of a task. Since physical practice (PP can, to some extent, improve movement coordination in stroke patients, it is assumed that the application of MP would be beneficial to enhance movement coordination in such patients. The purpose of this study was to investigate the effect of MP on coordination of upper limb movements in hemiplegic patients. Materials & Methods: Fifteen hemiplegic patients (age range 20-70 yrs were participated in this study. All patients were selected of the following criteria: absence of aphasic, apraxia and cognitive problem. The patients were randomly assigned to three groups, MP, PP, and PP+MP. Results: l. PP and MP Significantly improved movement coordination. 2. PP did not give different results when compared to MP. 3. PP Combined with MP Produced Significantly higher scores than each one alone. Conclusion: In spite of the small size in this study, the efficacy of MP shown here. Therefore MP Similar to PP should he used in physiotherapy.

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

    Science.gov (United States)

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

    2011-10-01

    To determine the effects of a temporary high custom made orthopaedic shoe on functional mobility, walking speed, and gait characteristics in hemiplegic stroke patients. In addition, interference of attentional demands and patient satisfaction were studied. Clinical experimental study. University Medical Centre. Nineteen stroke patients (12 males; mean age 55 years (standard deviation (SD) 10 years); mean time post onset 3.6 months (SD 1.4 months)) with a spastic paresis of the lower extremity. Functional mobility was assessed with the timed up and go test, walking speed and gait characteristics were measured with clinical gait analysis and performed with and without a verbal dual task. Patient satisfaction was determined with a questionnaire. Walking with the high orthopaedic shoe resulted in improved functional mobility (22%; pshoes. The dual task interfered with functional mobility during walking. The interference was equally big for normal shoes as for the orthopaedic shoe. Patients evaluated walking with the high orthopaedic shoe as an improvement (psafety, walking distance and walking speed. In the early recovery phase after stroke, when regaining walking ability, a temporary high orthopaedic shoe can improve hemiplegic gait, even with dual task interference. Copyright © 2011 Elsevier B.V. All rights reserved.

  14. Educational gains in cause-specific mortality: Accounting for cognitive ability and family-level confounders using propensity score weighting.

    Science.gov (United States)

    Bijwaard, Govert E; Myrskylä, Mikko; Tynelius, Per; Rasmussen, Finn

    2017-07-01

    A negative educational gradient has been found for many causes of death. This association may be partly explained by confounding factors that affect both educational attainment and mortality. We correct the cause-specific educational gradient for observed individual background and unobserved family factors using an innovative method based on months lost due to a specific cause of death re-weighted by the probability of attaining a higher educational level. We use data on men with brothers from the Swedish Military Conscription Registry (1951-1983), linked to administrative registers. This dataset of some 700,000 men allows us to distinguish between five education levels and many causes of death. The empirical results reveal that raising the educational level from primary to tertiary would result in an additional 20 months of survival between ages 18 and 63. This improvement in mortality is mainly attributable to fewer deaths from external causes. The highly educated gain more than nine months due to the reduction in deaths from external causes, but gain only two months due to the reduction in cancer mortality and four months due to the reduction in cardiovascular mortality. Ignoring confounding would lead to an underestimation of the gains by educational attainment, especially for the less educated. Our results imply that if the education distribution of 50,000 Swedish men from the 1951 cohort were replaced with that of the corresponding 1983 cohort, 22% of the person-years that were lost to death between ages 18 and 63 would have been saved for this cohort. Copyright © 2017 Elsevier Ltd. All rights reserved.

  15. Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation.

    NARCIS (Netherlands)

    Koenderink, J.B.; Zifarelli, G.; Qiu, L.Y.; Schwarz, W.; Pont, J.J.H.H.M. de; Bamberg, E.; Friedrich, T.

    2005-01-01

    The Na,K-ATPase is an ion-translocating transmembrane protein that actively maintains the electrochemical gradients for Na+ and K+ across the plasma membrane. The functional protein is a heterodimer comprising a catalytic alpha-subunit (four isoforms) and an ancillary beta-subunit (three isoforms).

  16. 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

    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...... 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....

  17. 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. © 2015 Wiley Periodicals, Inc.

  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, N.; Schroder, H. D.; Hejbol, E. K.

    2013-01-01

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

  19. 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.

  20. 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.

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

    DEFF Research Database (Denmark)

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

    2017-01-01

    Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is caused by variants in the arginine vasopressin (AVP) gene. Here we report the generation of induced pluripotent stem cells (iPSCs) from a 42-year-old man carrying an adFNDI causing variant in exon 1 of the AVP gene using...

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

    International Nuclear Information System (INIS)

    Baron, J.C.; Lebrun-Grandie, P.; Serdaru, M.; Bousser, M.G.; Lhermitte, F.; Cabanis, E.

    1982-09-01

    This work gives the results of a study by positron emission tomography of the cerebral blood flow (CBF), oxygen-extraction rate (O 2 E) and oxygen consumption (CMRO 2 ) 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 O 2 E (''luxury perfusion'') and especially preservation of the CMRO 2 suggesting a decoupling not only between CBF and CMRO 2 but also between CMRO 2 and functional state of the tissue. Some time after the attack a new study showed the recoupling between CBF and CMRO 2 , 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 [fr

  3. Self-esteem, self-concept, and quality of life in children with hemiplegic cerebral palsy.

    Science.gov (United States)

    Russo, Remo N; Goodwin, Emma J; Miller, Michelle D; Haan, Eric A; Connell, Tim M; Crotty, Maria

    2008-10-01

    To investigate self-esteem, self-concept and quality of life in children with hemiplegic cerebral palsy (HCP) compared with typically developing peers. Cross-sectional evaluation of 86 children (3-16 years; 54 boys; mean age 9.4 +/- 3.7 years) with HCP and age and sex-matched peers. Self-esteem/concept was measured with the Self-Perception Profile for Children (age 8-16; n = 55 pairs) and the Pictorial Scale of Perceived Competence and Social Acceptance for Young Children (age 3-7 years; n = 31 pairs). Quality of life was measured with the Pediatric Quality of Life Inventory, version 4. Significant differences in mean scores ([95%CI] P self-concept compared with typically developing peers.

  4. 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.

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

    International Nuclear Information System (INIS)

    Fukamachi, Makoto; Tsuru, Akira; Morikawa, Minoru; Moriuchi, Hiroyuki; Kawaguchi, Yukiyoshi

    2004-01-01

    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)

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

    Science.gov (United States)

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

    1992-01-01

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

  7. 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

  8. A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis.

    Science.gov (United States)

    Bordbar, Mohammad Reza; Modarresi, Farzaneh; Farazi Fard, Mohammad Ali; Dastsooz, Hassan; Shakib Azad, Nader; Faghihi, Mohammad Ali

    2017-05-03

    Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessive hematological disorder is due to disease-causing mutations in several genes essential for NK and T-cell granule-mediated cytotoxic function. For an effective cytotoxic response from cytotoxic T lymphocyte or NK cell encountering an infected cell or tumor cell, different processes are required, including trafficking, docking, priming, membrane fusion, and entry of cytotoxic granules into the target cell leading to apoptosis. Therefore, genes involved in these steps play important roles in the pathogenesis of HLH disease which include PRF1, UNC13D (MUNC13-4), STX11, and STXBP2 (MUNC18-2). Here, we report a novel missense mutation in an 8-year-old boy suffered from hepatosplenomegaly, hepatitis, epilepsy and pancytopenia. The patient was born to a first-cousin parents with no previous documented disease in his parents. To identify mutated gene in the proband, Whole Exome Sequencing (WES) utilizing next generation sequencing was used on an Illumina HiSeq 2000 platform on DNA sample from the patient. Results showed a novel deleterious homozygous missense mutation in PRF1 gene (NM_001083116: exon3: c. 1120 T > G, p.W374G) in the patient and then using Sanger sequencing it was confirmed in the proband and his parents. Since his parents were heterozygous for the identified mutation, autosomal recessive pattern of inheritance was confirmed in the family. Our study identified a rare new pathogenic missense mutation in PRF1 gene in patient with HLH disease and it is the first report of mutation in PRF1 in Iranian patients with this disease.

  9. A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.

    Science.gov (United States)

    Ge, Wei; Wei, Bin; Zhu, Hao; Miao, Zhigang; Zhang, Weimin; Leng, Cuihua; Li, Jizhen; Zhang, Dan; Sun, Miao; Xu, Xingshun

    2017-05-01

    Fabry disease is an X-linked genetic disorder caused by the mutations of α-galactosidase A (GLA, MIM 300644) gene presenting with various clinical symptoms including small-fiber peripheral neuropathy and limb burning pain. Here, we reported a Chinese pedigree with the initial diagnosis of primary erythromelalgia in an autosomal dominant (AD)-inherited pattern. Mutation analysis of SCN9A and GLA genes by direct sequencing and functional analysis of a novel mutation of GLA in cells were performed. Our data did not show any pathological mutations in SCN9A gene; however, a novel missense mutation c.139T>C (p.W47R) of GLA was identified in a male proband as well as two female carriers in this family. Enzyme assay of α-galactosidase A activity showed deficient enzyme activity in male patients and female carriers, further confirming the diagnosis of Fabry disease. Finally, a functional analysis indicated that the replacement of the 47th amino acid tryptophan (W47) with arginine (W47R) or glycine (W47G) led to reduced activity of α-galactosidase A in 293T cells. Therefore, these findings demonstrated that the novel mutation p.W47R of GLA is the cause of Fabry disease. Because Fabry disease and primary erythromelalgia share similar symptoms, it is a good strategy for clinical physicians to perform genetic mutation screenings on both SCN9A and GLA genes in those patients with limb burning pain but without a clear inheritant pattern.

  10. The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome.

    Science.gov (United States)

    Macaulay, Shelley; Goodyear, Quintin Clive; Kruger, Mia; Chen, Wenlong; Essop, Fahmida; Krause, Amanda

    2018-02-01

    Li-Fraumeni syndrome is a rare inherited cancer syndrome characterised by the early onset of specific cancers. Li-Fraumeni syndrome (LFS) is associated with germline mutations in the tumour suppressor gene, TP53. This study reports the first cases of molecularly confirmed LFS germline mutations in sub-Saharan Africa. Three black African patients, all with LFS-associated cancers, were seen through the Clinical and Counselling Section of the Division of Human Genetics at the National Health Laboratory Service and University of the Witwatersrand in Johannesburg, South Africa, during 2011-2012. All three patients (two were related) were recruited into this research study. Sequence analysis of the coding region of the TP53 gene identified a Class IV (likely pathogenic) variant, c.326T > C (p.Phe109Ser), in the two related patients, and a known pathogenic mutation, c.1010G > A (p.Arg337His), also referred to as the Brazilian founder mutation, in the other patient. A confirmed diagnosis in these patients will assist in tailored medical management (it is recommended that individuals carrying a germline TP53 mutation avoid radiotherapy as this might cause secondary radiotherapy-induced malignancies) and in addition, genetic testing of at-risk family members can be offered. Very little is known and documented on LFS in African individuals. Despite the small number of patients in this study, the results support the need for diagnostic genetic testing for LFS in South Africa.

  11. De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report.

    Science.gov (United States)

    Gagliardi, Stella; Grieco, Gaetano Salvatore; Gualandi, Francesca; Caniatti, Luisa Maria; Groppo, Elisabetta; Valente, Marialuisa; Nappi, Giuseppe; Neri, Marcella; Cereda, Cristina

    2017-12-01

    Sporadic Hemiplegic Migraine is a rare form of migraine headache. Mutations in three different genes, two ion-channel genes and one encoding an ATP exchanger, CACNA1A, ATP1A2 and SCN1A are all responsible for the FHM phenotype, thus indicating a genetic heterogeneity for this disorder. Here, we described a de novo exonic duplication of ATP1A2 in an Italian patient with Hemiplegic Migraine. We describe the case of a young woman (33 year old) who suffered from the age of 8 years of episodic weakness of the limbs, associated to other subjective and objective features. From aged 25, she developed neurological symptoms, like dizziness, blurred vision and an MRI scan revealed aspecific peritrigonal white matter hyperintensities. Aged 32 she suffered of right hemisomatic sudden-onset paresthesias, hypoesthesia and hyposthenia and the patient was genetically investigated for sporadic hemiplegic migraine. Here we report, for the first time, an exonic duplication in the ATP1A2 associated with hemiplegic migraine. The variation identified involves exon 21 of the ATP1A2 and is expected to alter the function of the alpha(2) subunit of the Na(+)/K(+) pump; the de novo nature of the duplication further supports its pathogenic role. To date, no other CNVs have been described in the ATP1A2 but only point mutations are reported. The novel mutation may result impaired M9 transmembrane domain, in a loss-of-function of the alpha(2) Na(+)/K(+)-ATPase with glutamate accumulation, alteration of synaptic function and neurotransmission.

  12. Effects of Kinesio taping for stroke patients with hemiplegic shoulder pain: A double-blind, randomized, placebo-controlled study.

    Science.gov (United States)

    Huang, Yen-Chang; Chang, Kwang-Hwa; Liou, Tsan-Hon; Cheng, Chau-Wei; Lin, Li-Fong; Huang, Shih-Wei

    2017-03-06

    To investigate the effects of Kinesio taping for stroke patients with hemiplegic shoulder pain. Double-blind, placebo-controlled clinical trial. Twenty-one stroke patients with hemiplegic shoulder pain within 6 months of stroke onset in the rehabilitation ward of a medical university hospital in Taiwan. A 3-week intervention involving a conventional rehabilitation protocol and therapeutic Kinesio taping was conducted with an experimental group of 11 stroke patients. A control group of 10 stroke patients underwent an identical conventional rehabilitation programme and sham Kinesio taping on the hemiplegic shoulder. Numerical rating scale scores, Shoulder Pain and Disability Index, ultrasound findings and pain-free passive range of motion of the affected shoulder, were evaluated before and after the intervention. Mann-Whitney test was used to compare within-group continuous variables before and after the intervention. Wilcoxon signed-rank test was used to analyse the differences and changes in values between study and control groups. There was no statistical difference in demographic variables between the 2 groups. Both groups showed improvement in passive range of motion of the shoulder, (mean numerical rating scale 2.36 (standard deviation (SD) 1.03)), and mean Shoulder Pain and Disability Index (16.64 (SD 2.62)) after the intervention (p pain-free passive ROM, and ultrasound findings for the shoulder after 3 weeks of treatment. Concerning the variables changes, the therapeutic Kinesio taping group showed more improvement in the numerical rating scale (p = 0.008), shoulder flexion (p = 0.008), external rotation (p = 0.006), internal rotation (p = 0.040), and Shoulder Pain and Disability Index (p shoulder pain can experience greater reductions in Shoulder Pain and Disability Index, pain, and improvement in shoulder flexion, external, and internal rotation after 3 weeks of Kinesio taping intervention compared with sham Kinesio taping. Kinesio taping may be an

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

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    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.

  14. [Mutation analyses and prenatal diagnosis in two families of X linked severe combined immunodeficiency caused by IL2RG gene novel mutation].

    Science.gov (United States)

    Kong, Xiangdong; Liu, Ning; Xu, Xueju; Wu, Qinghua; Zhao, Zhenhua; Bai, Qiaoling; Meng, Jingjing

    2014-04-29

    To evaluate the diagnostic feasibility of mutation analysis and prenatal genetic diagnosis genetic analysis of IL2RG gene in two families with a birth history of X-linked severe combined immunodeficiency (X-SCID). Blood samples of a male infant patient of X-SCID and his mother in family 1 and the parents of another deceased child with X-SCID in family 2 from January 2012 to February 2013 were collected.Eight exons comprising IL2RG open reading frame and their exon/intron boundaries were analyzed by bi-directional direct sequencing of polymerase chain reaction (PCR) products. Prenatal genetic diagnoses were performed by chorionic villus sampling after the genotypes of maternal probands were identified in family 1. Two mutations of IL2RG gene were identified in these two families. The c.361-363delGAG (p.E121del) mutation was identified in family 1. The c.510-511insGAACT (p.W173X) mutation appeared in family 2. The two mutations of c.361-363delGAG (p.E121del) and c.510-511insGAACT (p.W173X) were novel. The two novel mutations were absent in 100 normal controls. The pregnancy in family 1 continued and the infant showed no symptom of X-SCID at 1 year after birth. The aunt (II-3) of proband in family 1 was not a carrier. The female fetus in family 1 had no mutation. Two novel mutations of c.361-363delGAG (p.E121del) and c.510-511insGAACT (p.W173X) in IL2RG gene may be a major cause of disease in two families with X-SCID. And direct sequencing of IL2RG gene provides genetic counseling, prenatal diagnosis and carrier screening for families with X-SCID.

  15. 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.

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

    Science.gov (United States)

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

    2014-04-01

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

  17. The effect of hinged ankle-foot orthosis on gait and energy expenditure in spastic hemiplegic cerebral palsy.

    Science.gov (United States)

    Balaban, Birol; Yasar, Evren; Dal, Ugur; Yazicioglu, Kamil; Mohur, Haydar; Kalyon, Tunc Alp

    2007-01-30

    To assess the effectiveness of a hinged ankle-foot orthoses on gait impairments and energy expenditure in children with hemiplegic cerebral palsy (CP) whom orthoses were indicated to control equines. Eleven children (seven males, four females) who had a diagnosis of hemiplegic cerebral palsy were included in the study. Each child underwent gait analysis and energy consumption studies with and without ankle-foot orthosis (AFO). The AFOs were all custom-made for the individual child and had plantarflexion stop at 0 degrees with no dorsoflexion stop. The Vicon 512 Motion analysis system was used for gait analysis. Walking energy expenditure measurements were done with breath by breath method using an open-circuit indirect calorimeter (Vmax 29c, Sensormedics, USA). All tests were carried out on the same day with enough resting period. AFO application, as compared with the barefoot condition improved walking speed, stride length and single support time. Double support time was decreased significantly with AFOs and no change in cadance. Ankle dorsiflexion at initial contact, midstance and midswing showed significiant increase. Knee flexion at initial contact was decreased and no significant change in maximum knee extension at stance and maximum knee flexion at swing was obtained. The oxygen consumption was significantly reduced during AFO walking. The hinged AFO is useful in controlling dynamic equinus deformity and reducing the energy expenditure of gait in children with hemiplegic spastic cerebral palsy.

  18. Naxos disease in an Arab family is not caused by the Pk2157del2 mutation; evidance for exclusion of the plakoglobin gene

    International Nuclear Information System (INIS)

    Stuhmann, M.; El-Harith, A.; Bukhari, Iqbal A.

    2004-01-01

    Nax os disease is a rare hereditary disorder characterized by palmoplantar keratoderma, woolly hair and cardiomyopathy. This study aims to determine whether Naxos disease in a Saudi Arab family is caused by the Pk2157del2 mutation that was identified in Greek families from Naxos Island where the disease had originally been described. This study was undertaken at King Fahad Hospital of the University, Al-Khobar, and the Medical University of Hannover, in the spring of 2003. Naxos disease has been encountered in a 2-year-old girl and her 30-year-old aunt of a Saudi Arab family. Deoxyribonucleic acid samples of this family were analyzed by polymerase chain-reaction (PCR) amplification of the respective region of the plakoglobin gene, and direct nucleotide sequencing of the PCR-products. Segregation analysis was performed employing the newly detected IVS11+22G/A polymorphism. Molecular genetic analysis of the DNA sample of the child diagnosed with Naxos disease showed absence of the Pk2157del2 mutation. In addition, the segregation analysis revealed heterozygosity for IVS11+22G/A in the affected girl. Absence of the Pk2157del2 frameshift in the affected child proved that Naxos disease in this Saudi Arab family is not caused by the same mutation that was identified in the Greek families. Furthermore, heterozygosity for the IVS11+22G/A polymorphism provided evidence for exclusion of the plakoglobin gene in this consanguineous family. (author)

  19. Selection of individuals for genetic testing for familial hypercholesterolaemia: development and external validation of a prediction model for the presence of a mutation causing familial hypercholesterolaemia

    NARCIS (Netherlands)

    Besseling, Joost; Reitsma, Johannes B.; Gaudet, Daniel; Brisson, Diane; Kastelein, John J. P.; Hovingh, G. Kees; Hutten, Barbara A.

    2017-01-01

    Familial hypercholesterolaemia (FH) is an autosomal dominant disease that warrants early diagnosis to prevent premature cardiovascular disease (CVD). However, genetic testing to make a definite diagnosis is costly, and careful selection of eligible subjects is important. Unfortunately, accuracy of

  20. Selection of individuals for genetic testing for familial hypercholesterolaemia : development and external validation of a prediction model for the presence of a mutation causing familial hypercholesterolaemia

    NARCIS (Netherlands)

    Besseling, Joost; Reitsma, Johannes B; Gaudet, Daniel; Brisson, Diane; Kastelein, John J P; Hovingh, G Kees; Hutten, Barbara A

    2017-01-01

    AIMS: Familial hypercholesterolaemia (FH) is an autosomal dominant disease that warrants early diagnosis to prevent premature cardiovascular disease (CVD). However, genetic testing to make a definite diagnosis is costly, and careful selection of eligible subjects is important. Unfortunately,

  1. 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

  2. Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rγ gene novel mutation.

    Science.gov (United States)

    Bai, Q L; Liu, N; Kong, X D; Xu, X J; Zhao, Z H

    2015-06-11

    We investigated the feasibility of interleukin-2 receptor gamma (IL2Rγ) gene based on gene mutation analysis and pre-natal diagnosis of X-linked severe combined immunodeficiency (X-SCID). Blood samples of patients and their parents of X-SCID (family 1) and X-SCID (family 2) were collected. IL2Rγ gene sequences of the 2 families were analyzed using bi-directional direct sequencing by polymerase chain reaction. DNA sequence changes in the IL2Rγ gene exon region and shear zone were also analyzed. We also sequenced the IL2Rγ gene in 100 healthy individuals. Prenatal genetic diagnoses for a high-risk fetus in family 1 were performed by chorionic villus sampling after determining each family's genotypes. The suspect fe-male in family 1 underwent carrier detection. Two novel mutations of IL2Rγ gene were identified, including c.361-363delGAG (p.E121del) in the patient and his mother in family 1, and c.510-511insGAACT (p.W173X) heterozygous mutation in the proband's mother in family 2. These mutations were absent in the 100 controls. Prenatal diagnosis of early pregnancy in the female fetus of family 1 was performed; the fetus was heterozygous, which was confirmed at postnatal follow-up. The suspect female in family 1 showed no mutation in carrier detection. The novel p.E121del and p.W173X mutations in IL2Rγ may have been the primary causes of disease in 2 families with X-SCID. In couples with an X-SCID reproductive history, prenatal gene mutation analysis of IL2Rγ can effectively prevent the birth of children with X-SCID and carrier detection for suspected females.

  3. Novel familial mutation of LRP5 causing high bone mass: Genetic analysis, clinical presentation, and characterization of bone matrix mineralization.

    Science.gov (United States)

    Roetzer, K M; Uyanik, G; Brehm, A; Zwerina, J; Zandieh, S; Czech, T; Roschger, P; Misof, B M; Klaushofer, K

    2018-02-01

    The Wnt signalling pathway is a critical regulator of bone mass and quality. Several heterozygous mutations in the LRP5 gene, a Wnt co-receptor, causing high bone mass (LRP5-HBM) have been described to date. The pathogenic mechanism is thought to be a gain-of-function caused by impaired inhibition of the canonical Wnt signalling pathway, thereby leading to increased bone formation. We report the cases of two affected family members, a 53-year-old mother and her 23-year-old daughter, with high bone mass (T-scores mother: lumbar spine 11.4, femoral neck 10.5; T-scores daughter: lumbar spine 5.4, femoral neck 8.7), increased calvarial thickness, and thickened cortices of the long bones but no history of fractures. Whereas the mother did not show any indications of the mutation, the daughter suffered from congenital hearing impairment resulting in cochlear implantation, recurrent facial palsy, and migraine. In addition, she had stenosis of the foramen magnum. In both individuals, we detected a novel heterozygous duplication of six basepairs in the LRP5 gene, resulting in an insertion of two amino acids, very likely associated with a gain-of-function. When the daughter had part of the occipital bone surgically removed, the bone sample was used for the visualization of bone lamellar structure and bone cells as well as the measurement of bone mineralization density distribution (BMDD). The bone sample revealed two distinctly different regions: an intra-cortical region with osteonal remodeling, typical osteonal lamellar orientation, associated with relatively higher heterogeneity of bone matrix mineralization, and another periosteal region devoid of bone remodeling, with parallel bone lamellae and lower heterogeneity of mineralization. In conclusion, we present data on bone tissue and material level from an LRP5-HBM patient with a novel mutation in the LRP5 gene. Our findings indicate normal morphology of osteoclasts and osteoblasts as well as normal mineralization in

  4. 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

    was shown by diagnostic restriction enzyme digest, and marker analysis of another aphakia family from Madagascar carrying the same mutation excluded the presence of a founder mutation. Clinical re-examination of the family was not possible due to the escalating security concerns and internal displacement...

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

    DEFF Research Database (Denmark)

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

    2008-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Marise Bueno Zonta

    2013-07-01

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

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

    Science.gov (United States)

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

    2016-09-01

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

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

    International Nuclear Information System (INIS)

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

    1988-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Serdar Kesikburun

    2017-03-01

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

  10. 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.

  11. [The painful hemiplegic shoulder: effects of exercises program according to Bobath].

    Science.gov (United States)

    Gialanella, B; Benvenuti, P; Santoro, R

    2004-01-01

    To verify whether a shoulder exercises program according to Bobath reduced the shoulder pain in hemiplegic patients. We studied a total of 20 patients with pain shoulder. Ten patients are assigned to group R (submitted to rehabilitation) and ten to group R+E (submitted to rehabilitation and shoulder exercises program according to Bobath). Shoulder exercises program was self-performed by the patients after training in occupational rehabilitation unit. The assessment of patients was performed at admission to hospital, at discharge and three months after discharge. Shoulder pain (VAS), shoulder range of motion, disability (FIM), motor function (Fugl-Meyer scale) and spasticity (Ashworth scale) of paretic arm were evaluated in all patients. VAS was similar in both groups at admission and decreased in group R+E at discharge without reaching significant differences (p=0.253). On the contrary, VAS and Shoulder range of motion improved statistically in group R+E (p=0.0001, pBobath reduces shoulder pain of patients with hemiplegia if it is performed daily and for a long period of time.

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

    Science.gov (United States)

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

    1988-01-01

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

  13. Effect of interferential current stimulation in management of hemiplegic shoulder pain.

    Science.gov (United States)

    Suriya-amarit, Duangporn; Gaogasigam, Chitanongk; Siriphorn, Akkradate; Boonyong, Sujitra

    2014-08-01

    To study the immediate effects of interferential current stimulation (IFC) on shoulder pain and pain-free passive range of motion (PROM) of the shoulder in people with hemiplegic shoulder pain (HSP). Double-blind, placebo-controlled clinical trial. Institutional physical therapy clinic, neurologic rehabilitation center. A population-based sample of people with HSP (N=30) was recruited. Participants were divided into 2 groups--an IFC group and a placebo group--by using a match-paired method (age, sex, and Brunnstrom motor recovery stage). In the IFC group, participants received IFC for 20 minutes with an amplitude-modulated frequency at 100 Hz in vector mode. The current intensity was increased until the participants felt a strong tingling sensation. Pain intensity and pain-free PROM of the shoulder until the onset of pain were measured at baseline and immediately after treatment. Participants reported a greater reduction in pain during the most painful movement after treatment with IFC than with placebo (P<.05). The IFC group showed a greater improvement in posttreatment pain-free PROM than the placebo group in shoulder flexion (P<.01), abduction (P<.01), internal rotation (P<.01), and external rotation (P<.01). This study provides evidence that IFC is effective for the relief of pain during movement and also increases the pain-free PROM of the shoulder in people with HSP. Copyright © 2014 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

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

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    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.

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

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    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.

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

    Science.gov (United States)

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

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

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

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    Marco Ceccanti

    2016-11-01

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

  19. Feasibility and efficacy of a robotic device for hand rehabilitation in hemiplegic stroke patients: a randomized pilot controlled study.

    Science.gov (United States)

    Vanoglio, Fabio; Bernocchi, Palmira; Mulè, Chiara; Garofali, Francesca; Mora, Chiara; Taveggia, Giovanni; Scalvini, Simonetta; Luisa, Alberto

    2017-03-01

    The purpose of the study was to evaluate the feasibility and efficacy of robot-assisted hand rehabilitation in improving arm function abilities in sub-acute hemiplegic patients. Randomized controlled pilot study. Inpatient rehabilitation centers. Thirty hemiplegic stroke patients (Ashworth spasticity index hand training with Gloreha, a hand rehabilitation glove that provides computer-controlled, repetitive, passive mobilization of the fingers, with multisensory feedback. Patients in the CG received the same amount of time in terms of conventional hand rehabilitation. Hand motor function (Motricity Index, MI), fine manual dexterity (Nine Hole Peg Test, NHPT) and strength (Grip and Pinch test) were measured at baseline and after rehabilitation, and the differences, (Δ) mean(standard deviation), compared between groups. Results Twenty-seven patients concluded the program: 14 in the TG and 13 in the CG. None of the patients refused the device and only one adverse event of rheumatoid arthritis reactivation was reported. Baseline data did not differ significantly between the two groups. In TG, ΔMI 23(16.4), ΔNHPT 0.16(0.16), ΔGRIP 0.27(0.23) and ΔPINCH 0.07(0.07) were significantly greater than in CG, ΔMI 5.2(9.2), ΔNHPT 0.02(0.07), ΔGRIP 0.03(0.06) and ΔPINCH 0.02(0.03)] ( p=0.002, p=0.009, p=0.003 and p=0.038, respectively). Gloreha Professional is feasible and effective in recovering fine manual dexterity and strength and reducing arm disability in sub-acute hemiplegic patients.

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

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    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.

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

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    Hsiu-Ching Chiu

    2016-07-01

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

  2. Advanced glycation end products cause increased CCN family and extracellular matrix gene expression in the diabetic rodent retina

    NARCIS (Netherlands)

    Hughes, J. M.; Kuiper, E. J.; Klaassen, I.; Canning, P.; Stitt, A. W.; van Bezu, J.; Schalkwijk, C. G.; van Noorden, C. J. F.; Schlingemann, R. O.

    2007-01-01

    Aims/hypothesis Referred to as CCN, the family of growth factors consisting of cystein-rich protein 61 (CYR61, also known as CCN1), connective tissue growth factor (CTGF, also known as CCN2), nephroblastoma overexpressed gene (NOV, also known as CCN3) and WNT1-inducible signalling pathway proteins

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

    Science.gov (United States)

    Kofodimos, Joan R.

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

  4. Mutations in the gene for lipoprotein lipase. A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia

    NARCIS (Netherlands)

    Pimstone, S. N.; Gagné, S. E.; Gagné, C.; Lupien, P. J.; Gaudet, D.; Williams, R. R.; Kotze, M.; Reymer, P. W.; Defesche, J. C.; Kastelein, J. J.

    1995-01-01

    Familial hypercholesterolemia (FH) is characterized by elevated plasma concentrations of LDL cholesterol resulting from mutations in the gene for the LDL receptor. Low HDL cholesterol levels are seen frequently in patients both heterozygous and homozygous for mutations in this gene. Suggested

  5. Development of Functional Recovery Training Device for Hemiplegic Fingers with Finger-expansion Facilitation Exercise by Stretch Reflex

    Science.gov (United States)

    Yu, Yong; Iwashita, Hisashi; Kawahira, Kazumi; Hayashi, Ryota

    This paper develops a functional recovery training device to perform repetition facilitating exercise for hemiplegic finger rehabilitation. On the facilitation exercise, automatic finger expansion can be realized and facilitated by stretch reflex, where a stimulation forces is applied instantaneously on flexion finger for making strech reflex and resistance forces are applied for maintaining the strech reflex. In this paper, novel parallel mechanisms, force sensing system with high sensitivity and resistance accompanying cooperation control method are proposed for sensing, controlling and realizing the stimulation force, resistance forces, strech reflex and repetition facilitating exercise. The effectivities and performances of the device are shown by some experiments.

  6. Blood flow in the limbs of hemiplegic patients by 99mTc-HSA accumulation curve and digital plethysmography

    International Nuclear Information System (INIS)

    Kuriyama, Setsuro

    1985-01-01

    Using 99m Tc-Human-Serum-Albumin (HSA) accumulation curve we have studied the blood flow in the lower extremities of the hemiplegic patients. After injection of 5 - 10 mCi of 99m Tc-HSA into v. mediana cubiti by the Oldendolf method, we recorded the RI count from both knees. We have examined 68 hemiplegic patients (male: 26, female: 42, right: 31, left: 37, average age: 61.7 years, average Brunnstrom stage of the lower extremity: 3.73, average duration post-stroke: 20.2 months). We counted the accumulation of the isotope in both knees 1 and 30 minutes after injection, and calculated the percentage (partic side/right and left sides), and named them as ''1-minute value'' and ''30-minute value''. During the 15 months period after an attack, the paretic leg had more blood flow than the non-paretic leg. After 15 months after attack, on the contrary, the paretic leg had less blood flow than the non-paretic leg. This tendency is clear in the left-sided hemiplegic patients. There is no relation between the blood flow and age, and the Brunnstrom stage, and the ability to walk. Using digital plethysmography, we have studied the blood flow in the finger and toe, too. We have examined 57 hemiplegic patients. We have averaged the five hights of the wave (mV/V), and calculated the percentage involved (paretic side/right and left) and labled it ''the paretic blood flow value (of the finger and of the toe)''. During the 12 month period after an attack, the paretic side had more blood flow than the non-paratic side. After 15 month after an attack, on the contrary, the paretic side had less blood flow than the non-paretic side. This tendency is clear in the finger than the toe. There is no correlation between the blood flow and the age, and the Brunnstrom stage, and the ability to walk. (author)

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

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    Jing Liu

    2016-01-01

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

  8. 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.

  9. In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype

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    Shamim Saleha

    2016-05-01

    Full Text Available AIM: To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation. METHODS: A consanguineous Pakistani family in which Usher phenotype was segregating as an autosomal recessive trait was ascertained. On the basis of results of clinical investigations of affected members of this family disease was diagnosed as Usher syndrome (USH. To identify the locus responsible for the Usher phenotype in this family, genomic DNA from blood sample of each individual was genotyped using microsatellite Short Tandem Repeat (STR markers for the known Usher syndrome loci. Then direct sequencing was performed to find out disease associated mutations in the candidate gene. RESULTS: By genetic linkage analysis, the USH phenotype of this family was mapped to PCDH15 locus on chromosome 10q21.1. Three different point mutations in exon 11 of PCDH15 were identified and one of them, c.1304A>C was found to be segregating with the disease phenotype in Pakistani family with Usher phenotype. This, c.1304A>C transversion mutation predicts an amino-acid substitution of aspartic acid with an alanine at residue number 435 (p.D435A of its protein product. Moreover, in silico analysis revealed conservation of aspartic acid at position 435 and predicated this change as pathogenic. CONCLUSION: The identification of c.1304A>C pathogenic mutation in PCDH15 gene and its association with Usher syndrome in a consanguineous Pakistani family is the first example of a missense mutation of PCDH15 causing USH1 phenotype. In previous reports, it was hypothesized that severe mutations such as truncated protein of PCDH15 led to the Usher I phenotype and that missense variants are mainly responsible for non-syndromic hearing impairment.

  10. Reorganization of the somatosensory cortex in hemiplegic cerebral palsy associated with impaired sensory tracts

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    Christos Papadelis

    2018-01-01

    Full Text Available Functional neuroimaging studies argue that sensory deficits in hemiplegic cerebral palsy (HCP are related to deviant somatosensory processing in the ipsilesional primary somatosensory cortex (S1. A separate body of structural neuroimaging literature argues that these deficits are due to structural damage of the ascending sensory tracts (AST. The relationship between the functional and structural integrity of the somatosensory system and the sensory performance is largely unknown in HCP. To address this relationship, we combined findings from magnetoencephalography (MEG and probabilistic diffusion tractography (PDT in 10 children with HCP and 13 typically developing (TD children. With MEG, we mapped the functionally active regions in the contralateral S1 during tactile stimulation of the thumb, middle, and little fingers of both hands. Using these MEG-defined functional active regions as regions of interest for PDT, we estimated the diffusion parameters of the AST. Somatosensory function was assessed via two-point discrimination tests. Our MEG data showed: (i an abnormal somatotopic organization in all children with HCP in either one or both of their hemispheres; (ii longer Euclidean distances between the digit maps in the S1 of children with HCP compared to TD children; (iii suppressed gamma responses at early latencies for both hemispheres of children with HCP; and (iv a positive correlation between the Euclidean distances and the sensory tests for the more affected hemisphere of children with HCP. Our MEG-guided PDT data showed: (i higher mean and radian diffusivity of the AST in children with HCP; (ii a positive correlation between the axial diffusivity of the AST with the sensory tests for the more affected hemisphere; and (iii a negative correlation between the gamma power change and the AD of the AST for the MA hemisphere. Our findings associate for the first time bilateral cortical functional reorganization in the S1 of HCP children with

  11. Reorganization of the somatosensory cortex in hemiplegic cerebral palsy associated with impaired sensory tracts.

    Science.gov (United States)

    Papadelis, Christos; Butler, Erin E; Rubenstein, Madelyn; Sun, Limin; Zollei, Lilla; Nimec, Donna; Snyder, Brian; Grant, Patricia Ellen

    2018-01-01

    Functional neuroimaging studies argue that sensory deficits in hemiplegic cerebral palsy (HCP) are related to deviant somatosensory processing in the ipsilesional primary somatosensory cortex (S1). A separate body of structural neuroimaging literature argues that these deficits are due to structural damage of the ascending sensory tracts (AST). The relationship between the functional and structural integrity of the somatosensory system and the sensory performance is largely unknown in HCP. To address this relationship, we combined findings from magnetoencephalography (MEG) and probabilistic diffusion tractography (PDT) in 10 children with HCP and 13 typically developing (TD) children. With MEG, we mapped the functionally active regions in the contralateral S1 during tactile stimulation of the thumb, middle, and little fingers of both hands. Using these MEG-defined functional active regions as regions of interest for PDT, we estimated the diffusion parameters of the AST. Somatosensory function was assessed via two-point discrimination tests. Our MEG data showed: (i) an abnormal somatotopic organization in all children with HCP in either one or both of their hemispheres; (ii) longer Euclidean distances between the digit maps in the S1 of children with HCP compared to TD children; (iii) suppressed gamma responses at early latencies for both hemispheres of children with HCP; and (iv) a positive correlation between the Euclidean distances and the sensory tests for the more affected hemisphere of children with HCP. Our MEG-guided PDT data showed: (i) higher mean and radian diffusivity of the AST in children with HCP; (ii) a positive correlation between the axial diffusivity of the AST with the sensory tests for the more affected hemisphere; and (iii) a negative correlation between the gamma power change and the AD of the AST for the MA hemisphere. Our findings associate for the first time bilateral cortical functional reorganization in the S1 of HCP children with

  12. Biomechanic changes in passive properties of hemiplegic ankles with spastic hypertonia.

    Science.gov (United States)

    Chung, Sun G; Van Rey, Elton; Bai, Zhiqiang; Roth, Elliot J; Zhang, Li-Qun

    2004-10-01

    To investigate quantitatively biomechanic changes in the passive properties of hemiplegic spastic ankles. Evaluation of spastic hypertonia by moving the ankle joint slowly between dorsiflexion and plantarflexion extreme positions under controlled joint torque and position. Institutional research center. Twenty-four stroke patients with spastic ankles and 32 healthy controls. Not applicable. Passive resistance torque at controlled dorsiflexion and plantarflexion positions, dorsiflexion and plantarflexion range of motion (ROM) at controlled torques, and quasistatic stiffness and energy loss in dorsiflexion and plantarflexion. Spastic hypertonic ankles showed significant alterations of the passive properties in plantarflexion (P=.041) as well as in dorsiflexion (P=.016) directions. Compared with healthy controls, spastic ankles showed higher resistance torque (9.51+/-4.79Nm vs 6.21+/-3.64Nm, P=.016), higher quasistatic stiffness (.54+/-.19Nm/deg vs .35+/-.20Nm/deg, P=.001) at 10 degrees of dorsiflexion, larger normalized dorsiflexion energy loss (.068+/-.04J/deg vs .04+/-.02J/deg, P=.037), and decreased dorsiflexion ROM at 10Nm of resistance torque (10.77 degrees +/-8.69 degrees vs 20.02 degrees +/-11.67 degrees , P=.014). The resistance torque, ROM, and stiffness of spastic hypertonic ankles in plantarflexion showed similar changes (Pbiomechanic changes in both plantar- and dorsiflexors are associated with spastic hypertonia of chronic stroke patients, and they can be evaluated quantitatively under well-controlled conditions. With simplifications, the various measures in this study can potentially be used to obtain more comprehensive and quantitative evaluations of spastic hypertonia in a clinical setting.

  13. Invesigation of Long-Term Effect of Bobath Approach on a Hemiplegic Child

    Directory of Open Access Journals (Sweden)

    Hamid ِDelavand

    2010-04-01

    Full Text Available Objective: This study was aimed to determine a long-term effect of the Bobath approach (6 years using modern tools on a child with hemiplegia. Materials & Methods: This research is a single case study design and performed on a spastic hemiplegic child. Bobath general assessment was used for evaluating of the quality of the gross motor function and Gross Motor Function Measure tool – 66 was used for quantitative evaluation of the gross motor function. Therapeutic interventions, based on Bobath approach were done for 6 years, in every age level commensurate with their child age once a week. Results: After therapeutic intervention, based on Gross Motor Function Classification System, the child developed from level II to I. At the entrance to the occupational therapy session, based on general assessment, the major problems included hypertonia, muscle stiffness, lack of doing various movements and disassociation movement patterns abnormal in trunk, upper and lower extremities ,and hyper lordosis and scoliosis in her left side. Also she could assume sitting, rolling from left to right and creeping. In the sixth year, she acquired walking, jumping, fast running in out door, hopping and stepping up and down alternatively. In assessing with GMFM- 66, at the beginning of intervention the score was 46/09 and the end of sixth year was 79/99. Conclusion: Bobath treatment programs that planned based on the précis assessment, can prevent of abnormal patterns of movement and as much as possible client abilities to be close to base of natural development.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2004-08-01

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

  15. Shoulder orthoses for the prevention and reduction of hemiplegic shoulder pain and subluxation: systematic review.

    Science.gov (United States)

    Nadler, M; Pauls, Mmh

    2017-04-01

    To determine whether shoulder orthoses prevent or reduce gleno-humeral subluxation and hemiplegic shoulder pain. OVID SP, MEDLINE, AMED, CINAHL, PEDro and the Cochrane Central Register of Controlled Trials. We included: randomised or quasi-randomised controlled trials, controlled before and after studies and observational studies. Two reviewers independently screened, critically appraised papers using the PEDro tool, and extracted data. A descriptive synthesis was performed as there were insufficient data for meta-analysis. Eight studies were included, totalling 186 participants: One randomised controlled trial with 41 participants, one quasi-randomised with 14 participants, one before and after controlled study with 40 participants and five observational studies with 91 participants met the inclusion criteria. Findings suggest that applying an orthosis to an already subluxed shoulder immediately reduced vertical subluxation on X-ray but improvements were not maintained when orthosis was removed. Orthoses with both proximal and distal attachments improved shoulder pain in the majority of stroke patients when worn for four weeks (starting several days or weeks post-stroke). There was no increase in adverse effects of contracture, spasticity or hand oedema when compared to no orthosis. Orthoses were generally well-tolerated and most patients rated the orthosis as comfortable to wear. Observational studies suggest that orthoses reduce vertical subluxation whilst in-situ. Available evidence from heterogeneous studies after stroke suggests that orthoses may reduce pain and are well-tolerated with prolonged use. No studies have tested whether subluxation and pain can be prevented by immediate post-stroke application of orthoses.

  16. Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene.

    Science.gov (United States)

    Bhagavath, Bala; Layman, Lawrence C; Ullmann, Reinhard; Shen, Yiping; Ha, Kyungsoo; Rehman, Khurram; Looney, Stephen; McDonough, Paul G; Kim, Hyung-Goo; Carr, Bruce R

    2014-08-05

    46,XY sex reversal is a rare disorder and familial cases are even more rare. The purpose of the present study was to determine the molecular basis for a family with three affected siblings who had 46,XY sex reversal. DNA was extracted from three females with 46,XY sex reversal, two normal sisters, and both unaffected parents. All protein coding exons of the SRY and NR5A1 genes were subjected to PCR-based DNA sequencing. In addition, array comparative genomic hybridization was performed on DNA from all seven family members. A deletion was confirmed using quantitative polymerase chain reaction. Expression of SOX9 gene was quantified using reverse transcriptase polymerase chain reaction. A 349kb heterozygous deletion located 353kb upstream of the SOX9 gene on the long arm of chromosome 17 was discovered in the father and three affected siblings, but not in the mother. The expression of SOX9 was significantly decreased in the affected siblings. Two of three affected sisters had gonadoblastomas. This is the first report of 46,XY sex reversal in three siblings who have a paternally inherited deletion upstream of SOX9 associated with reduced SOX9 mRNA expression. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  17. Cortical Spreading Depression Causes Unique Dysregulation of Inflammatory Pathways in a Transgenic Mouse Model of Migraine.

    Science.gov (United States)

    Eising, Else; Shyti, Reinald; 't Hoen, Peter A C; Vijfhuizen, Lisanne S; Huisman, Sjoerd M H; Broos, Ludo A M; Mahfouz, Ahmed; Reinders, Marcel J T; Ferrari, Michel D; Tolner, Else A; de Vries, Boukje; van den Maagdenberg, Arn M J M

    2017-05-01

    Familial hemiplegic migraine type 1 (FHM1) is a rare monogenic subtype of migraine with aura caused by mutations in CACNA1A that encodes the α 1A subunit of voltage-gated Ca V 2.1 calcium channels. Transgenic knock-in mice that carry the human FHM1 R192Q missense mutation ('FHM1 R192Q mice') exhibit an increased susceptibility to cortical spreading depression (CSD), the mechanism underlying migraine aura. Here, we analysed gene expression profiles from isolated cortical tissue of FHM1 R192Q mice 24 h after experimentally induced CSD in order to identify molecular pathways affected by CSD. Gene expression profiles were generated using deep serial analysis of gene expression sequencing. Our data reveal a signature of inflammatory signalling upon CSD in the cortex of both mutant and wild-type mice. However, only in the brains of FHM1 R192Q mice specific genes are up-regulated in response to CSD that are implicated in interferon-related inflammatory signalling. Our findings show that CSD modulates inflammatory processes in both wild-type and mutant brains, but that an additional unique inflammatory signature becomes expressed after CSD in a relevant mouse model of migraine.

  18. Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family.

    Science.gov (United States)

    Lin, Fangzhu; Li, Dejun; Wang, Ping; Fan, Dongyan; De, Ji; Zhu, Wei

    2014-12-01

    Hearing loss is the most common sensory disorder worldwide. Biallelic mutations in 42 different genes have been identified as associated with autosomal recessive non-syndromic hearing loss (ARNSHL). One of the common genes responsible for ARNSHL is TMC1. TMC1 mutations have been reported to cause non-syndromic hearing loss in a variety of populations. The current study is designed to investigate mutations prevalent among Chinese ethnic groups with ARNSHL. Targeted exome sequencing (TES) was employed to study the genetic causes of two siblings with ARNSHL in a Tibetan Chinese family. Variants identified by TES were further confirmed by Sanger sequencing. We identified two distinct variants in the TMC1 gene in two deaf siblings of one Tibetan Chinese family using TES. Both siblings inherited a paternal allele containing a deletion of c.1396_1398AAC (p.Asn466del) and a maternal allele containing an insertion of c.2210_2211insCT (p.Glu737HisfsX2). The former disrupts a highly conserved residue in the large intracellular loop domain adjacent to the fourth transmembrane domain, and the latter causes a truncation of a portion of the C-terminal domain. These variants were compound heterzygous and segregated with the hearing impairment in this family. The novel compound heterozygous mutant alleles of TMC1 identified in this study were responsible for the ARNSHL in this Tibetan Chinese family. Although compound heterozygous mutations in TMC1 occurring in different TMC1 domains have been previously described in Han Chinese; this result suggests that the TMC1 variants contributing to hereditary deafness in Chinese populations may be more complex than initially assumed and that sequence-based diagnostics will be required for a comprehensive evaluation of ARNSHL. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  19. 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

  20. Effect of Rocker Bar Ankle Foot Orthosis on Functional Mobility in Post-Stroke Hemiplegic Patients: Timed Up and Go and Gait Speed Assessments

    Directory of Open Access Journals (Sweden)

    Farzad Farmani

    2016-03-01

    Discussion: RAFO led to a significant improvement in functional mobility in hemiplegic patients post stroke. This may be due to the positive effect of rocker modification on improving push off and transferring weight during the stance phase of gait.

  1. Electromyographical characteristics and muscle utilization in hemiplegic patients during sit-to-stand activity: an observational study.

    Science.gov (United States)

    Lu, Rong R; Li, Fang; Zhu, Bing

    2016-04-01

    Sit-to-stand is an important process in daily activity, and stroke patients have difficulty completing this task due to many reasons. To investigate the characteristic of muscle utilization of lower limb muscles between healthy participants and hemiplegic patients during sit-to-stand activity. This is an observational study. Inpatients at a rehabilitation hospital. Thirty-two stroke patients and 36 healthy participants. The participants were evaluated on sit-to-stand movement. Muscle strength was assessed by measuring maximal voluntary contraction (MVC) bilaterally in quadriceps, hamstrings, tibialis anterior and gastrocnemius. Amplitude (average and maximal) and area under the curve (AUC) of quadriceps, hamstring, tibialis anterior, and gastrocnemius of both sides were recorded during this activity. The average and maximal amplitudes of paretic muscles were significantly less than non-paretic muscles and healthy controls (Pratios of quadriceps and hamstrings in both sides of patients were significantly larger than healthy controls (Pquadriceps (P=0.078). The muscle utilization ratio (MUR) of the patients was significantly higher than that of the healthy participants. This study demonstrated electromyographical features of sit-to-stand activity in hemiplegic patients. During sit-to-stand, stroke patients' muscle utilization of both sides increased and MUR of the paretic side is similar to the non-paretic side. Muscle utilization ratio might help to understand how patients fulfill the sit-to-stand task. Using this information might improve our training strategy. Through customized training, paretic patients could fulfill the task with less muscle utilization.

  2. [Effects of acupuncture on different acupoints in combination with rehabilitation on hemiplegic muscle spasticity in hemiplegia patients].

    Science.gov (United States)

    Lu, Jun-Yan; Tu, Wen-Zhan; Zheng, Dan-Ying; Xie, Wen-Xia; Li, Jin-Min; Jiang, Song-He

    2010-07-01

    To observe the clinical effect of hemiplegic muscle spasticity treated with acupuncture on different acupoints in combination with rehabilitation. Ninety cases of post-stroke muscle spasticity were randomized into a corresponding and central axis acupuncture group (group A), a conventional acupuncture group (group B) and a rehabilitation group (group C), 30 cases in each one. In group A, the acupoints on the Governor Vessel were mainly selected, as well as those on Hand-Shaoyang meridian and Foot-Taiyang meridian. In group B, the conventional needling and rehabilitation training were applied in combination, of which, the acupoints were mainly from Hand and Foot-Yangming meridians, associated with the acupoints of Shaoyang meridian. In group C, only rehabilitation training was applied. The assessments according to modified Ashworth scale and CSS score were performed before treatment, after 2 weeks and 4 weeks treatment respectively. The level of modified Ashworth scale of the flexor of elbow and wrist was reduced apparently after treatment in group A as compared with that before treatment (P treatment in group C as compared with that before treatment (P treatment (P treatment (P treatment in group A was apparent as compared with the other two groups (P < 0.01). The corresponding and central axis acupuncture can improve muscle tone of hemiplegic limb, which is superior to the effect achieved by the conventional acupuncture in combination with rehabilitation training and the simple rehabilitation training.

  3. Manual mobilization of the wrist: a pilot study in rehabilitation of patients with a chronic hemiplegic hand post-stroke.

    Science.gov (United States)

    Smedes, Fred; van der Salm, Arjan; Koel, Gerard; Oosterveld, Frits

    2014-01-01

    Prospective pilot cohort study, quasi-experimental design. Restricted hand mobility, limitation in activities and participation, due to relative immobilization of the hemiplegic hand are frequently reported after stroke. To establish whether manual mobilization of the wrist has an additional value in the treatment of the hemiplegic hand. Eighteen patients received treatment twice a week for a period of 6 weeks. Both treatment groups received therapy based upon the Dutch guidelines for stroke. In the intervention group, a 10-min manual mobilization of the wrist was integrated. The primary outcomes were active and passive wrist mobility and activity limitation. The secondary outcomes were spasticity, grip strength, and pain. Data were collected at 0, 6 and 10 weeks. Statistical analysis was performed using the Friedman's test, related t-test, Wilcoxon test, independent t-test, and Mann-Whitney U-test. Statistically significant differences were found in the intervention group; between T0 and T2 measurements in active wrist extension (+18°; p hand. Replication of the results is needed in a large scale randomized controlled trial. 4. Copyright © 2014 Hanley & Belfus. Published by Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

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

    2016-02-01

    Using resting state functional magnetic resonance imaging (MRI), we aim to understand the neurologic basis of improved function in children with hemiplegic cerebral palsy treated with constraint-induced movement therapy. Eleven children including 4 untreated comparison subjects diagnosed with hemiplegic cerebral palsy were recruited from 3 clinical centers. MRI and clinical data were gathered at baseline and 1 month for both groups, and 6 months later for the case group only. After constraint therapy, the sensorimotor resting state network became more bilateral, with balanced contributions from each hemisphere, which was sustained 6 months later. Sensorimotor resting state network reorganization after therapy was correlated with a change in the Quality of Upper Extremity Skills Test score at 1 month (r = 0.79, P = .06), and Canadian Occupational Performance Measure scores at 6 months (r = 0.82, P = .05). This clinically correlated resting state network reorganization provides further evidence of the neuroplastic mechanisms underlying constraint-induced movement therapy. © The Author(s) 2015.

  5. 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.

  6. Participation and community-based walking activity after neuroprosthesis use in children with hemiplegic cerebral palsy: A pilot study1.

    Science.gov (United States)

    Bailes, Amy F; Caldwell, Cailee; Clay, Mike; Tremper, Melissa; Dunning, Kari; Long, Jason

    2017-05-17

    To explore the effects of neuroprosthesis use on participation, level of community-based walking activity, safety and satisfaction in children with hemiplegic CP. Eleven children (mean 9 years 11 months) with hemiplegic CP Gross Motor Function Classification System (GMFCS) Level I and II participated in a 16-week intervention using the Ness L300 neuroprosthesis. Outcome measures included satisfaction and performance with self-selected participation goals (Canadian Occupational Performance Measure (COPM)), level of community-based walking activity (Step Watch Activity Monitor (SAM)), trip and fall frequency (caregiver report) and a satisfaction questionnaire. Significant (p< 0.001) improvements in performance and satisfaction with self-selected participation goals (COPM) were demonstrated. No significant changes were noted in SAM values. A significant (p= 0.01) decrease in trips was demonstrated from baseline to post. Satisfaction with the device was high. Results indicate that daily neuroprosthesis use may improve performance and satisfaction with participation goals and reduce trips. No changes in community-based walking activity were noted. Further study is needed to examine response based on GMFCS levels, across geographical regions and between FES neuroprosthesis and a control group.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-09-01

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

  8. Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family.

    Science.gov (United States)

    Niu, Zhijie; Feng, Yong; Hu, Zhengmao; Li, Jiada; Sun, Jie; Chen, Hongsheng; He, Chufeng; Wang, Xueping; Jiang, Lu; Liu, Yalan; Cai, Xinzhang; Wang, Lili; Cai, Yuxiang; Liu, Xuezhong; Mei, Lingyun

    2017-09-01

    Autosomal dominant non-syndromic low-frequency sensorineural hearing loss (LFSNHL) DFNA6/14/38 is an uncommon type of hearing loss that classically affects low frequencies of 2000 Hz and below, demonstrating an ascending configuration. The current study aimed to investigate the cause of LFSNHL in a five-generation Chinese family. The phenotype of the Chinese family was characterized using audiologic testing and pedigree analysis. The combined approach of array screening and whole-exome sequencing was used to identify the disease-causing gene in this family. This pedigree, in which the affected subjects presented isolated low-frequency sensorineural hearing impairment with childhood onset, was associated with autosomal dominant inheritance of the c.2591A > G mutation in exon 8 of the Wolframin syndrome 1 (WFS1) gene which was not present in 286 unrelated controls with matched ancestry and is highly conserved across species. In addition, several mutations affecting the Glu864 residue have been previously identified in different populations, suggesting that this site is likely to be a mutational hot spot. We identified a novel substitution, Glu864Gly, of WFS1 as the causative variant for this pedigree. Our data extend the mutation spectrum of the WFS1 gene in Chinese individuals and may contribute to establishing a better genotype-phenotype correlation for LFSNHL. Copyright © 2017 Elsevier B.V. All rights reserved.

  9. Depression as the Primary Cause of Insomnia and Excessive Daytime Sleepiness in a Family with Multiple Cases of Spinocerebellar Ataxia.

    Science.gov (United States)

    Hsu, Chun-Hsien; Chen, Yen-Lin; Pei, Dee; Yu, Shu-Man; Liu, I-Chao

    2016-07-15

    Spinocerebellar ataxia (SCA) is a hereditary disease characterized by central nervous system-related motor dysfunctions. Sleep disorders and frequent non-motor manifestations are commonly comorbid with SCA. To elucidate this relationship, we present three cases in a family that included multiple SCA type 2 patients with various sleep disorders. Complete physical examination, and genetic and imaging studies were performed. Anti-parkinsonism medications were prescribed after neurological examination. Clonazepam and/or quetiapine were administered for sleep disorders but failed to resolve insomnia and excessive daytime sleepiness (EDS). Based on DSM-5 criteria, all cases were diagnosed with depression. After treatment with serotonin-norepinephrine reuptake inhibitors and noradrenergic and specific serotonergic antidepressants, symptoms of insomnia and EDS, which are strongly associated with depression in SCA type 2 patients, improved significantly. It is crucial to recognize insomnia and EDS in neurodegenerative diseases, not only for earlier diagnosis, but also to improve quality of life. © 2016 American Academy of Sleep Medicine.

  10. Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects.

    Science.gov (United States)

    Stepensky, Polina; Keller, Baerbel; Buchta, Mary; Kienzler, Anne-Kathrin; Elpeleg, Orly; Somech, Raz; Cohen, Sivan; Shachar, Idit; Miosge, Lisa A; Schlesier, Michael; Fuchs, Ilka; Enders, Anselm; Eibel, Hermann; Grimbacher, Bodo; Warnatz, Klaus

    2013-02-01

    Profound combined immunodeficiency can present with normal numbers of T and B cells, and therefore the functional defect of the cellular and humoral immune response is often not recognized until the first severe clinical manifestation. Here we report a patient of consanguineous descent presenting at 13 months of age with hypogammaglobulinemia, Pneumocystis jirovecii pneumonia, and a suggestive family history. We sought to identify the genetic alteration in a patient with combined immunodeficiency and characterize human caspase recruitment domain family, member 11 (CARD11), deficiency. Molecular, immunologic, and functional assays were performed. The immunologic characterization revealed only subtle changes in the T-cell and natural killer cell compartment, whereas B-cell differentiation, although normal in number, was distinctively blocked at the transitional stage. Genetic evaluation revealed a homozygous deletion of exon 21 in CARD11 as the underlying defect. This deletion abrogated protein expression and activation of the canonical nuclear factor κB (NF-κB) pathway in lymphocytes after antigen receptor or phorbol 12-myristate 13-acetate stimulation, whereas CD40 signaling in B cells was preserved. The abrogated activation of the canonical NF-κB pathway was associated with severely impaired upregulation of inducible T-cell costimulator, OX40, cytokine production, proliferation of T cells, and B cell-activating factor receptor expression on B cells. Thus in patients with CARD11 deficiency, the combination of impaired activation and especially upregulation of inducible T-cell costimulator on T cells, together with severely disturbed peripheral B-cell differentiation, apparently leads to a defective T-cell/B-cell cooperation and probably germinal center formation and clinically results in severe immunodeficiency. This report discloses the crucial and nonredundant role of canonical NF-κB activation and specifically CARD11 in the antigen-specific immune response

  11. A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family.

    Science.gov (United States)

    Jalilian, Nazanin; Tabatabaiefar, Mohammad Amin; Farhadi, Mohammad; Bahrami, Tayyeb; Noori-Daloii, Mohammad Reza

    2015-10-01

    Sensorineural hearing impairment (HI) is one of the most frequent congenital defects, with a prevalence of 1 in 500 among neonates. Although there are over 400 syndromes involving HI, most cases of HI are nonsyndromic (70%), 20% of which follow autosomal dominant mode of inheritance. Waardenburg syndrome (WS) ranks first among autosomal dominant syndromic forms of HI. WS is characterized by sensorineural hearing impairment, pigmentation abnormalities of hair and skin and hypoplastic blue eyes or heterochromia iridis. WS is subdivided into four major types, WS1-WS4. WS1 is diagnosed by the presence of dystopia canthorum and PAX3 is the only gene involved. This study aims to determine the pathogenic mutation in a large Iranian pedigree affected with WS1 in order to further confirm the clinical diagnosis. In the present study, a family segregating HI was ascertained in a genetic counseling center. Upon clinical inspection, white forelock, dystopia canthorum, broad high nasal root and synophrys, characteristic of WS1 were evident. In order to clarify the genetic etiology and confirm the clinical data, primers were designed to amplify exons and exon-intron boundaries of the responsible gene, PAX3 with 10 exons, followed by the Sanger DNA sequencing method. Genetic analysis of PAX3 revealed a novel mutation in PAX3 (c.1024_1040 del AGCACGATTCCTTCCAA). Our data provide genotype-phenotype correlation for the mutation in PAX3 and WS1 in the studied family, with implications for genetic counseling, which necessitates detailed clinical inspection of HI patients to distinguish syndromic HI from the more common non-syndromic cases. Our results reveal the value of phenotype-directed genetic analysis and could further expand the spectrum of PAX3 mutations. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  12. Between-day reliability of centre of pressure measures for balance assessment in hemiplegic stroke patients.

    Science.gov (United States)

    Gasq, David; Labrunée, Marc; Amarantini, David; Dupui, Philippe; Montoya, Richard; Marque, Philippe

    2014-03-21

    (AREA) to assess and monitor postural sway over time in hemiplegic stroke patients. The poor reliability of CoP(ML) compromises its use to assess weight-bearing asymmetry. The procedure we used could be applied in reliability studies concerning other CoP-based variables or other biological variables in the field of physical medicine and rehabilitation.

  13. The genome of the nucleopolyhedrosis-causing virus from Tipula oleracea sheds new light on the Nudiviridae family.

    Science.gov (United States)

    Bézier, Annie; Thézé, Julien; Gavory, Frederick; Gaillard, Julien; Poulain, Julie; Drezen, Jean-Michel; Herniou, Elisabeth A

    2015-03-01

    A large double-stranded DNA (dsDNA) virus that produces occlusion bodies, typical of baculoviruses, has been described to infect crane fly larvae of the genus Tipula (Diptera, Tipulidae). Because of a lack of genomic data, this virus has remained unclassified. Electron microscopy of an archival virus isolated from Tipula oleracea, T. oleracea nudivirus (ToNV), showed irregularly shaped occlusion bodies measuring from 2 to 5 μm in length and 2 μm in middiameter, filled with rod-shape virions containing single nucleocapsids within a bilayer envelope. Whole-genome amplification and Roche 454 sequencing revealed a complete circular genome sequence of 145.7 kb, containing five direct repeat regions. We predicted 131 open reading frames, including a homolog of the polyhedrin gene encoding the major occlusion body protein of T. paludosa nucleopolyhedrovirus (NPV). BLAST searches demonstrated that ToNV had 21 of the 37 baculovirus core genes but shared 52 genes with nudiviruses (NVs). Phylogenomic analyses indicated that ToNV clearly belongs to the Nudiviridae family but should probably be assigned to a new genus. Among nudiviruses, ToNV was most closely related to the Penaeus monodon NV and Heliothis zea NV clade but distantly related to Drosophila innubia NV, the other nudivirus infecting a Diptera. Lastly, ToNV was found to be most closely related to the nuvidirus ancestor of bracoviruses. This was also reflected in terms of gene content, as ToNV was the only known exogenous virus harboring homologs of the Cc50C22.6 and 27b (Cc50C22.7) genes found in the nudiviral genomic cluster involved in bracovirus particle production. The Nudiviridae is a family of arthropod dsDNA viruses from which striking cases of endogenization have been reported (i.e., symbiotic bracoviruses deriving from a nudivirus and the endogenous nudivirus of the brown planthopper). Although related to baculoviruses, relatively little is known about the genomic diversity of exogenous nudiviruses. Here

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

    Science.gov (United States)

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

    2012-09-01

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

  15. Null Retinoschisin-Protein Expression from an RS1 c354del1-ins18 Mutation Causes Progressive and Severe XLRS in a Cross-Sectional Family Study

    Science.gov (United States)

    Vijayasarathy, Camasamudram; Ziccardi, Lucia; Zeng, Yong; Smaoui, Nizar; Caruso, Rafael C.; Sieving, Paul A.

    2009-01-01

    Purpose Explore the retinoschisin (RS1) protein biochemical phenotype from an RS1 exon-5 deletion/insertion frame-shift mutation in an X-linked retinoschisis (XLRS) family and describe the clinical and electrophysiological features. Methods Six XLRS males underwent ophthalmologic examination and electroretinogram (ERG) recording. The RS1 gene was sequenced. Mutant RS1-RNA and protein expression were assessed by transfecting COS-7 cells with minigene constructs. Results All six males carried the RS1 c354del1-ins18 mutation in which an 18-bp insertion replaced nucleotide 354, duplicating the adjacent upstream intron-4-to-exon-5 junction and causing a premature termination codon downstream. Analysis indicated normal pre-mRNA splicing producing mRNA transcripts. Truncated RS1 protein was expressed transiently but was degraded rapidly by a proteasomal pathway rather than by nonsense mediated mRNA decay. Two boys, 1.5 and 5 years old (y/o), had foveal cysts and minimal peripheral schisis, and retained near-normal scotopic b-wave amplitude and normal ERG waveforms. The 5 y/o's ERG was reduced when repeated three years later. Four older XLRS relatives 32-45 y/o had substantial b-wave loss and strongly “electronegative” ERGs; three had overt macular atrophy. Cross-sectional family analysis showed the b/a-wave amplitude ratio as inversely related to age in the six males. Conclusions The c354del1-ins18 mutation causes an RS1 null biochemical phenotype and a progressive clinical phenotype in a 5-y/o male, while the older XLRS relatives had macular atrophy and marked ERG changes. The phenotypic heterogeneity with age by cross-sectional study of this family mutation argues that XLRS disease is not stationary and raises questions regarding factors involved in progression. PMID:19474399

  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. 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.

  18. Home-based hand rehabilitation with a robotic glove in hemiplegic patients after stroke: a pilot feasibility study.

    Science.gov (United States)

    Bernocchi, Palmira; Mulè, Chiara; Vanoglio, Fabio; Taveggia, Giovanni; Luisa, Alberto; Scalvini, Simonetta

    2018-03-01

    To evaluate the feasibility and safety of home rehabilitation of the hand using a robotic glove, and, in addition, its effectiveness, in hemiplegic patients after stroke. In this non-randomized pilot study, 21 hemiplegic stroke patients (Ashworth spasticity index ≤ 3) were prescribed, after in-hospital rehabilitation, a 2-month home-program of intensive hand training using the Gloreha Lite glove that provides computer-controlled passive mobilization of the fingers. Feasibility was measured by: number of patients who completed the home-program, minutes of exercise and number of sessions/patient performed. Safety was assessed by: hand pain with a visual analog scale (VAS), Ashworth spasticity index for finger flexors, opponents of the thumb and wrist flexors, and hand edema (circumference of forearm, wrist and fingers), measured at start (T0) and end (T1) of rehabilitation. Hand motor function (Motricity Index, MI), fine manual dexterity (Nine Hole Peg Test, NHPT) and strength (Grip test) were also measured at T0 and T1. Patients performed, over a mean period 56 (49-63) days, a total of 1699 (1353-2045) min/patient of exercise with Gloreha Lite, 5.1 (4.3-5.8) days/week. Seventeen patients (81%) completed the full program. The mean VAS score of hand pain, Ashworth spasticity index and hand edema did not change significantly at T1 compared to T0. The MI, NHPT and Grip test improved significantly (p = 0.0020, 0.0156 and 0.0024, respectively) compared to baseline. Gloreha Lite is feasible and safe for use in home rehabilitation. The efficacy data show a therapeutic effect which need to be confirmed by a randomized controlled study.

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

    Directory of Open Access Journals (Sweden)

    N. Nokhostin-Ansari

    2006-06-01

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

  20. Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family.

    Science.gov (United States)

    Pach, Johanna; Kohl, Susanne; Gekeler, Florian; Zobor, Ditta

    2013-01-01

    Progressive rod-cone degeneration (PRCD) is a canine form of autosomal recessive photoreceptor degeneration and serves as an animal model for human retinitis pigmentosa (RP). To date, only two RP-causing mutations of the PRCD gene have been reported in humans. We found a novel mutation in PRCD (c.52C>T, p.R18X) in three siblings affected by RP and present detailed morphologic and functional parameters. A complete ophthalmological examination was performed including psychophysical tests (best-corrected visual acuity, Lanthony Panel D-15 color vision test, and visual field) and electrophysiology (ganzfeld and multifocal electroretinogram). Additionally, color and infrared fundus photography, autofluorescence, and spectral domain optical coherence tomography recordings were performed. Genomic DNA of the three affected individuals was analyzed with high-throughput sequencing for all RP-related genes in a diagnostic set-up. We identified a novel homozygous mutation in PRCD (c.52C>T, p.R18X) with diagnostic high-throughput panel sequencing. All three patients showed an advanced stage of retinitis pigmentosa with reduced visual acuity (mean: 20/80), small residual visual fields (mean for target III4e: 1134.35 deg²), and non-detectable electrophysiological responses. Myopia, posterior subcapsular cataract, bone spicule-like pigmentation, and attenuated arterioles were typical findings. Interestingly, bull's eye maculopathy due to patchy retinal pigment epithelium atrophy was also present in all patients. The mean central retinal thickness observed in optical coherence tomography was 148 µm. The identification of a third mutation in PRCD confirms its role in the pathogenesis of RP. Clinical findings were in line with the morphological changes observed in previous studies. Bull's eye maculopathy seems to be a hallmark of RP due to mutations in the PRCD gene.

  1. 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|info:eu-repo/dai/nl/070219249; 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,

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

    DEFF Research Database (Denmark)

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

    2016-01-01

    it with assessment of local field potentials by electrophysiological recordings, cerebral blood flow by laser Doppler flowmetry, and oxygen consumption with measurement of the oxygen tissue tension. Results: During spreading depression, the evoked increase in cytosolic Ca2+ was larger and faster in FHM1 mice than...... wild-type (WT) mice. It was accompanied by larger increases in oxygen consumption in FHM1 mice, leading to tissue anoxia, but moderate hypoxia, in WT mice. In comparison, before CSD, Ca2+ and hemodynamic responses to somatosensory stimulations were smaller in FHM1 mice than WT mice and almost abolished...... after CSD. The CSD-induced Ca2+ changes were mitigated by the CaV2.1 gating modifier, tert-butyl dihydroquinone. Interpretation: Our findings suggest that tissue anoxia might be a mechanism for prolonged aura in FHM1. Reduced Ca2+ signals during normal network activity in FHM1 as compared to WT mice may...

  3. Factors and root causes of corporal punishment within home and family environment and how to tackle the problem

    Directory of Open Access Journals (Sweden)

    Neda Niknami

    2011-04-01

    Full Text Available Corporal punishment is one way of disciplining children which has been used by parents and child care takers over long centuries and there are still children who experience and fear violence. Studies indicate that corporal punishment is an important factor in the development of violent attitudes and actions and it has a devastating impact on an individual’s childhood and life. As a result, it has a detrimental effect on development of children and formation of proper norms of discipline. Furthermore, beating children as a factor involving risks can cause physical and psychological harms and even lead to a child‘s death. Thus, it violates the child fundamental rights such as inherent dignity. Nevertheless, corporal punishment is a legal and common practice in many countries and sometimes religion is used to justify its validity. Therefore, to tackle this concern and global problem, we need to identify its root causes and then take measures to eliminate all forms of it. This article is an attempt to explore the causes and consequences of corporal punishment of children and to offer solutions regarding how to tackle this problem. raise some misconceptions regarding the contradiction between domestic law and religious opinions on the matter with international law and may cast doubt on its international commitments. In addition to describing the legal status of corporal punishment of children, this study will reveal the position of the legal system of the Islamic Republic of Iran towards this important international document more than before. طرز رفتار بزرگسالان اثر عمیقی بر شخصیت کودکان و عادات کسب شده توسط آنها دارد. تنبیه بدنی به معنای استفاده از نیروی فیزیکی جهت ایجاد درد بدون صدمه، به منظور تربیت «تصحیح یا کنترل رفتار» کودک می‌باشد. تنبیه‌بدنی دارای اثرات

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

    Directory of Open Access Journals (Sweden)

    Mohammad Al-Haggar

    2011-01-01

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

  5. The effect of different shoes on functional mobility and energy expenditure in post-stroke hemiplegic patients using ankle-foot orthosis.

    Science.gov (United States)

    Farmani, Farzad; Mohseni Bandpei, Mohammad Ali; Bahramizadeh, Mahmood; Aminian, Gholamreza; Nikoo, Mohammad Reza; Sadeghi-Goghari, Mohammad

    2016-10-01

    Ankle-foot orthoses could be utilized both with and without shoes. While several studies have shown that ankle-foot orthoses improve gait abilities in hemiplegic patients, it remains unclear whether they should be used with shoes or without. The study purpose was to compare the effect of standard shoes and rocker shoes on functional mobility in post-stroke hemiplegic patients utilizing ankle-foot orthosis. Randomized clinical study. Thirty post-stroke hemiplegic patients participated in this study randomly assigned to two groups. Group I received standard shoes + ankle-foot orthosis and group II were provided with rocker shoes + ankle-foot orthosis. Their functional mobility and energy expenditure parameters including timed up and go, timed up stairs, timed down stairs, preferred walking speed, and oxygen (O2) cost (mL/kg/m) were measured. In group I, no significant changes were seen in outcome measures after wearing standard shoes. While in group II, O2 cost and timed up and go time significantly decreased, and preferred walking speed increased when patients wore rocker shoes. Also, there was a significant difference between rocker shoes and standard shoes in improvement of timed up and go, preferred walking speed, and O2 cost. When patients using ankle-foot orthosis wore rocker shoes, their functional mobility improved and oxygen cost diminished. Also, rocker shoes was significantly more effective than standard shoes in improving functional mobility parameters. This study suggests that in post-stroke hemiplegic patients using ankle-foot orthosis, wearing rocker shoes can lead to much more improved functional mobility and decreased energy expenditure compared to ankle-foot orthosis only. Thus, in stroke patients, the combination of ankle-foot orthosis-rocker shoes is recommended for both rehabilitation programs and ankle-foot orthosis efficacy investigations. © The International Society for Prosthetics and Orthotics 2015.

  6. Suprascapular nerve block for the treatment of hemiplegic shoulder pain in patients with long-term chronic stroke: a pilot study.

    Science.gov (United States)

    Picelli, Alessandro; Bonazza, Sara; Lobba, Davide; Parolini, Massimo; Martini, Alvise; Chemello, Elena; Gandolfi, Marialuisa; Polati, Enrico; Smania, Nicola; Schweiger, Vittorio

    2017-09-01

    Hemiplegic shoulder pain is the most common pain condition after stroke. Suprascapular nerve block is an effective treatment for shoulder pain. The aim of this pilot study was to evaluate the effects of suprascapular nerve block on pain intensity, spasticity, shoulder passive range of motion, and quality of life in long-term chronic stroke patients with hemiplegic shoulder pain. Ten chronic stroke patients (over 2 years from onset) with hemiplegic shoulder pain graded ≥30 mm on the Visual Analogue Scale underwent suprascapular nerve block injection with 1 mL of 40 mg/mL methylprednisolone and 10 mL 0.5% bupivacaine hydrochloride. Main outcome was the Visual Analogue Scale evaluated before and after nerve block at 1 h, 1 week, and 1 month. Secondary outcomes were the modified Ashworth scale and the shoulder elevation, abduction, and external rotation passive range of motion evaluated before the nerve block and after 1 h as well as the American Chronic Pain Association Quality of Life Scale evaluated before and after nerve block at 1 month. The Visual Analogue Scale significantly improved after nerve block at 1 h (P = 0.005) and 1 week (P = 0.011). Significant improvements were found at 1 h after nerve block in the modified Ashworth scale (P = 0.014) and the passive range of motion of shoulder abduction (P = 0.026), flexion (P = 0.007), and external rotation (P = 0.017). The American Chronic Pain Association Quality of Life Scale significantly improved at 1 month after nerve block (P = 0.046). Our findings support the use of suprascapular nerve block for treating hemiplegic shoulder pain in long-term chronic stroke patients.

  7. Novel Mutations and Mutation Combinations ofTMPRSS3Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.

    Science.gov (United States)

    Gao, Xue; Yuan, Yong-Yi; Wang, Guo-Jian; Xu, Jin-Cao; Su, Yu; Lin, Xi; Dai, Pu

    2017-01-01

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

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

    Science.gov (United States)

    Kwon, Yong Hyun; Lee, Hye Young

    2015-02-01

    [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 strength of the respiratory muscles and lung volumetric capacity. [Results] Regarding respiratory pressure, children with spastic diplegic and hemiplegic CP showed significantly lower functions in terms of MIP and MEP compared with children with normal development, although no significant differences were found between children with the two types of CP. In the pulmonary function test, children with spastic diplegic CP showed significantly higher pulmonary function than children with normal development in terms of only FVC and FEV1. [Conclusion] Children with CP showed relatively lower function in terms of respiratory pressure and lung capacity, in comparison with children with normal development. Therefore, respiratory function in children with CP should be carefully evaluated and should receive more attention in a rehabilitation setting.

  9. Carbon Modular Orthosis (Ca.M.O.): An innovative hybrid modular ankle-foot orthosis to tune the variable rehabilitation needs in hemiplegic cerebral palsy.

    Science.gov (United States)

    Tavernese, E; Petrarca, M; Rosellini, G; Di Stanislao, E; Pisano, A; Di Rosa, G; Castelli, E

    2017-01-01

    Hemiplegic Celebral Palsy (CP) children commonly use AFO orthoses as walking aids. It is known that AFOs may have a detrimental effect on gait. To enhance mechanical properties of AFOs we developed an innovative, custom-made, carbon, ankle-foot orthosis (Ca.M.O) which offers the opportunity to tune its response to the patient's gait characteristics and/or functional maturity. To assess the efficacy of Ca.M.O. in improving gait in a group of hemiplegic CP children and to compare its performances with those of commonly prescribed AFO. A clinical and instrumental gait analysis was performed on a group of 15 spastic hemiplegic children (WINTERS-GAGE type I-II) walking barefoot, with commonly prescribed AFOs and with Ca.M.O.Temporal, kinematic and kinetic data were collected with an 8 cameras optoelectronic system and 2 force plates. Studied variables were comparable walking with Ca.M.O. and with the commonly prescribed AFO and are significantly different (p < 0.01) with respect to barefoot condition. Both types of orthoses normalize the kinematics of the first and second ankle rocker. The main advantage of Ca.M.O. is its modularity that allows to tune its effect on gait in relationship with the progress or involution of the child's functional development.

  10. A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.

    Directory of Open Access Journals (Sweden)

    Zhijie Niu

    Full Text Available X-linked hearing impairment is the rarest form of genetic hearing loss (HL and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile73Asnfs*5 in SMPX was identified by whole-exome sequencing. The frameshift mutation predicted to result in the premature truncation of the SMPX protein was co-segregated with the HL phenotype and was absent in 295 normal controls. Subpopulation screening of the coding exons and flanking introns of SMPX was further performed for 338 Chinese patients with nonsydromic HL by Sanger sequencing, and another two potential causative substitutions (c.238C>A and c.55A>G in SMPX were identified in additional sporadic cases of congenital deafness. Collectively, this study is the first to report the role of SMPX in Chinese population and identify a novel frameshift mutation in SMPX that causes not only nonsyndromic late-onset progressive HL, but also congenital hearing impairment. Our findings extend the mutation and phenotypic spectrum of the SMPX gene.

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

    International Nuclear Information System (INIS)

    Anjos, D.A.; Santos, A.O.; Etchebehere, E.C.S.C.; Filho, R.M.; Ramos, C.D.; Lima, M.C.L.; Camargo, E.E.; Honorato, D.C.; Oberg, T.D.

    2002-01-01

    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 99m Tc-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 99m Tc-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

  12. 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

  13. An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).

    Science.gov (United States)

    Turan, Serap; Hughes, Claire; Atay, Zeynep; Guran, Tulay; Haliloglu, Belma; Clark, Adrian J L; Bereket, Abdullah; Metherell, Louise A

    2012-05-01

    Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated cortisol deficiency. Mutations in the gene encoding the ACTH receptor (MC2R) account for 25% of cases. One significant feature is generalized skin hyperpigmentation, which is thought to be due to elevated ACTH acting on the melanocortin 1 receptor (MC1R). The aim of the study was to determine the cause of a nonhyperpigmented case of FGD. The patient presented at 4 yr of age with hypoglycemia after prolonged fasting during a respiratory tract infection. She had further hypoglycemic attacks and was diagnosed with isolated glucocorticoid deficiency at 6 yr of age. Her parents were consanguineous, and she had two unaffected sisters. Her physical examination was normal, except that her height and weight were greater than the 97th centile for a sex- and age-matched reference population. Interestingly, she had no hyperpigmentation despite very high ACTH levels. Nucleotide sequence analysis revealed homozygous mutations c.478C>T in MC1R and c.455C>A in MC2R leading to R160W and T152K changes in the amino acid sequences, respectively. The R160W MC1R change has previously been implicated in a red hair/pale skin phenotype, and MC2R -T152K is trafficking defective. Both parents and two unaffected sisters were heterozygous for the MC1R mutation; additionally, one unaffected sister was heterozygous for the MC2R mutation, and the other was wild-type. We report an unusual case of FGD without hyperpigmentation due to coexistent MC1R/MC2R mutations. This case is important because it demonstrates for the first time that the assumption that the action of ACTH on MC1R causes skin hyperpigmentation is correct.

  14. 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.

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

    Science.gov (United States)

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

    2008-09-01

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

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

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    Paul Guéguen

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

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

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    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.

  18. Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.

    Science.gov (United States)

    Stiburkova, Blanka; Krijt, Jakub; Vyletal, Petr; Bartl, Josef; Gerhatova, Eva; Korinek, Martin; Sebesta, Ivan

    2012-01-18

    The article describes the clinical, biochemical, enzymological and molecular genetics findings in two patients from two families with xanthinuria type I. Biochemical analysis using high performance liquid chromatography, allopurinol loading test and analysis of xanthine oxidase activity in plasma and of uromodulin excretion in urine were performed. Sequencing analysis of the xanthine dehydrogenase gene and the haplotype and statistical analyses of consanguinity were performed. Probands showed extremely low concentrations of uric acid, on seven occasions under the limit of detection. The concentration of uric acid in 38-year-old female was 15 μmol/L in serum and 0.04 mmol/L in urine. Excretion of xanthine in urine was 170 mmol/mol creatinine. The concentration of uric acid in 25-year-old male was 0.03 mmol/L in urine. Excretion of xanthine in urine was 141 mmol/mol creatinine. The allopurinol loading test confirmed xanthinuria type I. The xanthine oxidase activities in patients were 0 and 0.4 pmol/h/mL of plasma. We found three nonsense changes: p.P214QfsX4 and unpublished p.R825X and p.R881X. We found two nonconsanguineous compound heterozygotes with xanthinuria type I caused by three nonsense changes. The methods used did not confirm consanguinity in the probands, thus there might be an unconfirmed biological relationship or mutational hotspot. Copyright © 2011 Elsevier B.V. All rights reserved.

  19. Rare disorders can be an underlying cause of cyclic vomiting: Familial Mediterranean fever, Helicobacter pylori gastritis, and cavernous transformation of the portal vein.

    Science.gov (United States)

    Egritaş Gürkan, Ödül; Ünlüsoy Aksu, Aysel; Demirtaş, Zeliha; Dalgıç, Buket

    2015-11-01

    Considering the etiology of cyclic vomiting syndrome (CVS) in childhood, a variety of underlying organic causes has been clearly identified in the literature. The aim of this study was to emphasize that endoscopic evaluation in the first step may help diagnosis and treatment in patients with CVS, unlike the CVS-related "North American Society for Pediatric Gastroenterology, Hepatology and Nutrition" (NASPGHAN) consensus statement in 2008. The medical files of patients with vomiting complaints admitted to our tertiary center between the years 2007 and 2012 were analyzed retrospectively. Patients were identified according to the International Classification of Diseases (ICD) codes at their initial presentation, including vomiting. A total of 815 patients with vomiting complaints were evaluated. Of the 379 patients who presented with vomiting only, 336 patients were already being followed for chronic vomiting. Cyclic vomiting was detected in 31 out of 336 patients. In our series, familial Mediterranean fever (FMF), cavernous transformation of the portal vein, and Helicobacter pylori (HP) gastritis presented with CVS for the first time in the pediatric age group. We emphasize that endoscopic evaluation in patients with CVS should be performed as the first step for appropriate diagnosis and treatment.

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

    Science.gov (United States)

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

    2015-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Dalila Burin

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

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

    Science.gov (United States)

    Uchiyama, Takanori; Uchida, Ryusei

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

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

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    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.

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

    Science.gov (United States)

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

    2016-06-01

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

  5. Effect of EMG-triggered neuromuscular electrical stimulation with bilateral arm training on hemiplegic shoulder pain and arm function after stroke: a randomized controlled trial.

    Science.gov (United States)

    Chuang, Li-Ling; Chen, You-Lin; Chen, Chih-Chung; Li, Yen-Chen; Wong, Alice May-Kuen; Hsu, An-Lun; Chang, Ya-Ju

    2017-11-28

    Hemiplegic shoulder pain is a frequent complication after stroke, leading to limited use of the affected arm. Neuromuscular electrical stimulation (NMES) and transcutaneous electrical nerve stimulation (TENS) are two widely used interventions to reduce pain, but the comparative efficacy of these two modalities remains uncertain. The purpose of this research was to compare the immediate and retained effects of EMG-triggered NMES and TENS, both in combination with bilateral arm training, on hemiplegic shoulder pain and arm function of stroke patients. A single-blind, randomized controlled trial was conducted at two medical centers. Thirty-eight patients (25 males and 13 females, 60.75 ± 10.84 years old, post stroke duration 32.68 ± 53.07 months) who had experienced a stroke more than 3 months ago at the time of recruitment and hemiplegic shoulder pain were randomized to EMG-triggered NMES or TENS. Both groups received electrical stimulation followed by bilateral arm training 3 times a week for 4 weeks. The primary outcome measures included a vertical Numerical Rating Scale supplemented with a Faces Rating Scale, and the short form of the Brief Pain Inventory. The secondary outcome measures were the upper-limb subscale of the Fugl-Meyer Assessment, and pain-free passive shoulder range of motion. All outcomes were measured pretreatment, post-treatment, and at 1-month after post-treatment. Two-way mixed repeated measures ANOVAs were used to examine treatment effects. Compared to TENS with bilateral arm training, the EMG-triggered NMES with bilateral arm training was associated with lower pain intensity during active and passive shoulder movement (P =0.007, P =0.008), lower worst pain intensity (P = 0.003), and greater pain-free passive shoulder abduction (P =0.001) and internal rotation (P =0.004) at follow-up. Both groups improved in pain at rest (P =0.02), pain interference with daily activities, the Fugl-Meyer Assessment, and pain-free passive

  6. 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

  7. A Developmental Perspective on Reentry: Understanding the Causes and Consequences of Family Conflict and Peer Delinquency during Adolescence and Emerging Adulthood.

    Science.gov (United States)

    Mowen, Thomas J; Boman, John H

    2018-02-01

    Despite the uniqueness of an incarceration experience for adolescents, there remains a shortage of research on adolescents and emerging adults who have been recently released from detention centers and are returning home during the transitional time period of "reentry". Drawing from the developmental literature, the current study uses a diverse (54% Black, 20% White, 26% Other Race) longitudinal survey of 337 male adolescents living in the United States to examine the interrelationships among crime, substance use, family conflict, and peer delinquency. A series of cross-lagged dynamic panel data models using four waves of data demonstrate that while family conflict and peer delinquency relate to increased offending and substance use, conflict in the family is a major driving force behind both future family conflict and peer delinquency. Overall, findings suggest that family conflict is an overlooked, but absolutely critical, factor in explaining deviance and deviant peer associations alike for adolescents and emerging adults who have been recently incarcerated and released.

  8. Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews

    NARCIS (Netherlands)

    Durst, R.; Colombo, R.; Shpitzen, S.; Avi, L. B.; Friedlander, Y.; Wexler, R.; Raal, F. J.; Marais, D. A.; Defesche, J. C.; Mandelshtam, M. Y.; Kotze, M. J.; Leitersdorf, E.; Meiner, V.

    2001-01-01

    G197del is the most prevalent LDL receptor (LDLR) mutation causing familial hypercholesterolemia (FH) in Ashkenazi Jew (AJ) individuals. The purpose of this study was to determine the origin, age, and population distribution of G197del, as well as to explore environmental and genetic effects on

  9. The original family revisited after 37 years: odontoma-dysphagia syndrome is most likely caused by a microduplication of chromosome 11q13.3, including the FGF3 and FGF4 genes.

    Science.gov (United States)

    Ziebart, Thomas; Draenert, Florian G; Galetzka, Danuta; Babaryka, Gregor; Schmidseder, Ralf; Wagner, Wilfried; Bartsch, Oliver

    2013-01-01

    Fibroblast growth factors consist of receptor tyrosine kinase binding proteins involved in growth, differentiation, and regeneration of a variety of tissues of the head and neck. Their role in the development of teeth has been documented, and their presence in human odontogenic cysts and tumors has previously been investigated. Odontoma–dysphagia syndrome (OMIM 164330) is a very rare disorder characterized by clustering of teeth as compound odontoma, dysplasia and aplasia of teeth, slight craniofacial abnormalities, and dysphagia. We have followed the clinical course of the disease in a family over more than 30 years and have identified a genetic abnormality segregating with the disorder. We evaluated clinical data from nine different family members and obtained venous blood probes for genetic studies from three family members (two affected and one unaffected). The present family with five patients in two generations has remained one out of only two known cases with this very rare syndrome. All those affected showed teeth dysplasia, oligodontia, and dysplasia and odontoma of the upper and lower jaw. Additional signs included dysphagia and strictures of the oesophagus. Comorbidity in one patient included aortic stenosis and coronary artery disease, requiring coronary bypasses and aortic valve replacement. Genome-wide SNP array analyses in three family members (two affected and one unaffected) revealed a microduplication of chromosome 11q13.3 spanning 355 kilobases (kb) and including two genes in full length, fibroblast growth factors 3 (FGF3) and 4 (FGF4). The microduplication identified in this family represents the most likely cause of the odontoma–dysphagia syndrome and implies that the syndrome is caused by a gain of function of the FGF3 and FGF4 genes. Mutations of FGF receptor genes can cause craniofacial syndromes such as odontoma–dysphagia syndrome. Following this train of thought, an evaluation of FGF gene family in sporadic odontoma could be

  10. 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. © 2016 Wiley Periodicals, Inc.

  11. Vascular mechanism of axonal degeneration in peripheral nerves in hemiplegic sides after cerebral hemorrhage: An experimental study

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    Bayram Ednan

    2008-04-01

    Full Text Available Abstract Background Though retrograde neuronal death and vascular insufficiency have been well established in plegics following intracerebral hemorrhage, the effects of plegia on arterial nervorums of peripheral nerves have not been reported. In this study, the histopathological effects of the intracerebral hemorrhage on the dorsal root ganglions and sciatic nerves via affecting the arterial nervorums were investigated. Methods This study was conducted on 13 male hybrid rabbits. Three animals were taken as control group and did not undergo surgery. The remaining 10 subjects were anesthetized and were injected with 0.50 ml of autologous blood into their right sensory-motor region. All rabbits were followed-up for two months and then sacrificed. Endothelial cell numbers and volume values were estimated a three dimensionally created standardized arterial nervorums model of lumbar 3. Neuron numbers of dorsal root ganglions, and axon numbers in the lumbar 3 nerve root and volume values of arterial nervorums were examined histopathologically. The results were analyzed by using a Mann-Whitney-U test. Results Left hemiplegia developed in 8 animals. On the hemiplegic side, degenerative vascular changes and volume reduction in the arterial nervorums of the sciatic nerves, neuronal injury in the dorsal root ganglions, and axonal injury in the lumbar 3 were detected. Statistical analyses showed a significant correlation between the normal or nonplegic sides and plegic sides in terms of the neurodegeneration in the dorsal root ganglions (p Conclusion Intracerebral hemorrhage resulted in neurodegeneration in the dorsal root ganglion and axonolysis in the sciatic nerves, endothelial injury, and volume reduction of the arterial nervorums in the sciatic nerves. The interruption of the neural network connection in the walls of the arterial nervorums in the sciatic nerves may be responsible for circulation disorders of the arterial nervorums, and arterial

  12. Abnormal swelling of the peritrophic membrane in Eri silkworm gut caused by MLX56 family defense proteins with chitin-binding and extensin domains.

    Science.gov (United States)

    Konno, Kotaro; Shimura, Sachiko; Ueno, Chihiro; Arakawa, Toru; Nakamura, Masatoshi

    2018-03-01

    MLX56 family defense proteins, MLX56 and its close homolog LA-b, are chitin-binding defense proteins found in mulberry latex that show strong growth-inhibitions against caterpillars when fed at concentrations as low as 0.01%. MLX56 family proteins contain a unique structure with an extensin domain surrounded by two hevein-like chitin-binding domains, but their defensive modes of action remain unclear. Here, we analyzed the effects of MLX56 family proteins on the peritrophic membrane (PM), a thin and soft membrane consisting of chitin that lines the midgut lumen of insects. We observed an abnormally thick (>1/5 the diameter of midgut) hard gel-like membrane consisted of chitin and MLX56 family proteins, MLX56 and LA-b, in the midgut of the Eri silkworms, Samia ricini, fed a diet containing MLX56 family proteins, MLX56 and LA-b. When polyoxin AL, a chitin-synthesis-inhibitor, was added to the diet containing MLX56 family proteins, the toxicity of MLX56 family proteins disappeared and PM became thinner and fragmented. These results suggest that MLX56 family proteins, through their chitin-binding domains, bind to the chitin framework of PM, then through their extensin-domain (gum arabic-like structure), which functions as swelling agent, expands PM into an abnormally thick membrane that inhibits the growth of insects. This study shows that MLX56 family proteins are plant defense lectins with a totally unique mode of action, and reveals the functions of extensin domains and arabinogalactan proteins as swelling (gel-forming) agents of plants. Copyright © 2018 Elsevier Ltd. All rights reserved.

  13. Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.

    Science.gov (United States)

    Zechner, Ulrich; Kohlschmidt, Nicolai; Kempf, Olga; Gebauer, Konstanze; Haug, Karsten; Engels, Hartmut; Haaf, Thomas; Bartsch, Oliver

    2009-01-01

    We report a familial Sotos syndrome in two children, boy and girl, aged 17 and 8 years, and in their 44 year old mother, who displayed normal intelligence at adult age, but suffered from insulin dependent diabetes mellitus, bronchial asthma, and severe lipedema. The underlying missense mutation, C2175S, occurred in a conserved segment of the NSD1 gene. Our findings confirm that familial cases of SS are more likely to carry missense mutations. This case report may prove useful to avoid underestimation of the recurrence rate of SS, and to demonstrate that the developmental delay may normalize, enabling an independent life and having an own family.

  14. Activity limitation in hemiplegic cerebral palsy: Evidence for disorders in motor planning

    NARCIS (Netherlands)

    Steenbergen, B.; Gordon, A.M.

    2006-01-01

    In the recent reconsideration of the definition of cerebral palsy (CP), only disorders of the development of movement and posture are considered that cause activity limitations. Recent research findings provide new insights into the disorder showing that activity limitation in individuals with

  15. Development and Implementation of an End-Effector Upper Limb Rehabilitation Robot for Hemiplegic Patients with Line and Circle Tracking Training

    Directory of Open Access Journals (Sweden)

    Yali Liu

    2017-01-01

    Full Text Available Numerous robots have been widely used to deliver rehabilitative training for hemiplegic patients to improve their functional ability. Because of the complexity and diversity of upper limb motion, customization of training patterns is one key factor during upper limb rehabilitation training. Most of the current rehabilitation robots cannot intelligently provide adaptive training parameters, and they have not been widely used in clinical rehabilitation. This article proposes a new end-effector upper limb rehabilitation robot, which is a two-link robotic arm with two active degrees of freedom. This work investigated the kinematics and dynamics of the robot system, the control system, and the realization of different rehabilitation therapies. We also explored the influence of constraint in rehabilitation therapies on interaction force and muscle activation. The deviation of the trajectory of the end effector and the required trajectory was less than 1 mm during the tasks, which demonstrated the movement accuracy of the robot. Besides, results also demonstrated the constraint exerted by the robot provided benefits for hemiplegic patients by changing muscle activation in the way similar to the movement pattern of the healthy subjects, which indicated that the robot can improve the patient’s functional ability by training the normal movement pattern.

  16. 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.

    Science.gov (United States)

    Pavão, Silvia L; Santos, Adriana N; Oliveira, Ana B; Rocha, Nelci A C F

    2015-01-01

    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. 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. 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. 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.

  17. 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.

  18. The effectiveness of 2 consecutive intra-articular polydeoxyribonucleotide injections compared with intra-articular triamcinolone for hemiplegic shoulder pain: A STROBE-complaint retrospective study.

    Science.gov (United States)

    Park, Donghwi; Yu, Kwang Jae; Cho, Ju Young; Woo, Seung Beom; Park, Junu; Lee, Zeeihn; Kim, Jong Min

    2017-11-01

    The aim of this study was to investigate the effects of intra-articular injection of polydeoxyribonucleotide (PDRN), compared with intraarticular triamcinolone (TA) injection, in subacute stroke patients with hemiplegic shoulder pain (HSP).Participants were subacute stroke patients with HSP who had undergone 2 consecutive intra-articular injections of TA or PDRN.Numeric rating scale (NRS) and passive range of motion (PROM) of hemiplegic shoulder were evaluated until 4 weeks after 2nd injection.In the results, there were significant improvements in all PROM measures 2 weeks after the second injection, compared with pre-injection results, in both groups (P < .05). In the PDRN group, however, none of the PROM measures were significantly improved at 3 and 4 weeks after the second injection, compared with pre-injection results (P ≥ .05). When comparing pre-injection results with those at 4 weeks after the second injection, all PROM and NRS measures in the TA group were more improved than in the PDRN group, but this was not statistically significant (P ≥ .05).In conclusion, considering the systemic side effects of steroids, especially among patients with diabetes or metabolic syndrome, PDRN seems to be a worthwhile treatment option for HSP, although PDRN does not seem to have an equivalent persistence effects when compared with TA.

  19. 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.

  20. Test-retest reliability and inter-rater reliability of the Modified Tardieu Scale and the Modified Ashworth Scale in hemiplegic patients with stroke.

    Science.gov (United States)

    Li, F; Wu, Y; Li, X

    2014-02-01

    The most commonly used tools for the assessment of spasticity are the Modified Ashworth Scale and Modified Tardieu Scale, but the results on the reliability of both scales keep equivocal. To evaluate the test-retest reliability and inter-rater reliability of the Modified Tardieu Scale (MTS) and Modified Ashworth Scale (MAS) in hemiplegic patients with stroke. Cross-sectional study. Inpatients referred to a rehabilitation hospital. Fifty-one inpatients with hemiplegic stroke. MTS and MAS were collected from the affected elbow flexors and ankle plantar flexors by: 1) two raters who were blinded to the results of the other assessment. 2) one rater one day apart. In the MAS measurement, the inter-rater and intra-rater Kappa values were 0.66 and 0.69 for the elbow flexors, 0.48 and 0.48 for the plantar flexors, respectively. In the angle measurement of the MTS, the inter-rater and intra-rater ICCs were between 0.58-0.89 for the R1 and R2, and between 0.62-0.70 for the R1-R2. The MAS provided moderate to substantial test-retest reliability and inter-rater reliability in the spasticity/tone measurement. The agreement of MAS elbow flexors scores was higher than that of plantar flexors scores. The reliability of angle measurement in the MTS was insufficient. Further work should avoid observing error when taking advantage of angle difference on measuring spasticity.

  1. Familial isolated primary hyperparathyroidism/hyperparathyroidism-jaw tumour syndrome caused by germline gross deletion or point mutations of CDC73 gene in Chinese.

    Science.gov (United States)

    Kong, Jing; Wang, Ou; Nie, Min; Shi, Jie; Hu, Yingying; Jiang, Yan; Li, Mei; Xia, Weibo; Meng, Xunwu; Xing, Xiaoping

    2014-08-01

    Hyperparathyroidism-jaw tumour syndrome (HPT-JT) and familial isolated primary hyperparathyroidism (FIHP) are two subtypes of familial primary hyperparathyroidism, which are rarely reported in Chinese population. Here, we reported three FIHP families and one HPT-JT family with long-term follow-up and genetic analysis. A total of 22 patients, from four FIHP/HPT-JT families of Chinese descent, were recruited and genomic DNA was extracted from their peripheral blood lymphocytes. Direct sequencing for MEN1, CDC73, CASR gene was conducted. Reverse transcription PCR (RT-PCR) and quantitative real-time PCR (qRT-PCR) were used to study the effect of splice site mutations and gross deletion mutations. Immunohistochemistry was performed to analyse parafibromin expression in parathyroid tumours. Genotype-phenotype correlations were assessed through clinical characteristics and long-term follow-up data. Genetic analysis revealed four CDC73 germline mutations that were responsible for the four kindreds, including two novel point mutation (c.157 G>T and IVS3+1 G>A), one recurrent point mutation (c.664 C>T) and one deletion mutation (c.307+?_513-?del exons 4, 5, 6). RT-PCR confirmed that IVS3+1 G>A generated an aberrant transcript with exon3 deletion. Immunohistochemical analysis demonstrated reduced nuclear parafibromin expression in tumours supporting the pathogenic effects of these mutations. This study supplies information on mutations and phenotypes of HPT-JT/FIHP syndrome in Chinese. Screening for gross deletion and point mutations of the CDC73 gene is necessary in susceptible subjects. © 2014 John Wiley & Sons Ltd.

  2. 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.

  3. Androgen Insensitivity Syndrome in a Family of Warmblood Horses Caused by a 25-bp Deletion of the DNA-Binding Domain of the Androgen Receptor Gene

    DEFF Research Database (Denmark)

    Eastman Welsford, G.; Munk, Rikke; Villagómez, Daniel A.F.

    2017-01-01

    Testicular feminization, an earlier term coined for describing a syndrome resulting from failure of masculinization of target organs by androgen secretions during embryo development, has been well documented not only in humans but also in the domestic horse. The pathology, actually referred...... pedigree segregating AIS, where the molecular analyses of the androgen receptor gene in the family provided evidences that a 25-bp deletion of the DNA-binding domain is causative of this equine syndrome....

  4. Kinematic features of rear-foot motion using anterior and posterior ankle-foot orthoses in stroke patients with hemiplegic gait.

    Science.gov (United States)

    Chen, Chih-Chi; Hong, Wei-Hsien; Wang, Chin-Man; Chen, Chih-Kuang; Wu, Katie Pei-Hsuan; Kang, Chao-Fu; Tang, Simon F

    2010-12-01

    To evaluate the kinematic features of rear-foot motion during gait in hemiplegic stroke patients, using anterior ankle-foot orthoses (AFOs), posterior AFOs, and no orthotic assistance. Crossover design with randomization for the interventions. A rehabilitation center for adults with neurologic disorders. Patients with hemiplegia due to stroke (n=14) and able-bodied subjects (n=11). Subjects with hemiplegia were measured walking under 3 conditions with randomized sequences: (1) with an anterior AFO, (2) with a posterior AFO, and (3) without an AFO. Control subjects were measured walking without an AFO to provide a normative reference. Rear-foot kinematic change in the sagittal, coronal, and transverse planes. In the sagittal plane, compared with walking with an anterior AFO or without an AFO, the posterior AFO significantly decreased plantar flexion to neutral at initial heel contact (P=.001) and the swing phase (PRehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

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

    2015-01-01

    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 increased his plegic forearm bone health during a 14-month virtual reality videogame hand telerehabilitation intervention. A total of 14 months after the intervention ended, repeat evaluation demonstrated maintenance of both increased hand function and forearm bone health. The implications of this work for the future of rehabilitation in children with neurological disabilities are discussed in this article. PMID:21383228

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

    Science.gov (United States)

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

    2015-10-01

    The aim was to identify neuroimaging predictors of clinical improvements following constraint-induced movement therapy. Resting state functional magnetic resonance and diffusion tensor imaging data was acquired in 7 children with hemiplegic cerebral palsy. Clinical and magnetic resonance imaging (MRI) data were acquired at baseline and 1 month later following a 3-week constraint therapy regimen. A more negative baseline laterality index characterizing an atypical unilateral sensorimotor resting state network significantly correlated with an improvement in the Canadian Occupational Performance Measure score (r = -0.81, P = .03). A more unilateral network with decreased activity in the affected hemisphere was associated with greater improvements in clinical scores. Higher mean diffusivity in the posterior limb of the internal capsule of the affect tract correlated significantly with improvements in the Jebsen-Taylor score (r = -0.83, P = .02). Children with more compromised networks and tracts improved the most following constraint therapy. © The Author(s) 2015.

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

    Directory of Open Access Journals (Sweden)

    Monica Favnebøe Solberg

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

  8. Does Domestication Cause Changes in Growth Reaction Norms? A Study of Farmed, Wild and Hybrid Atlantic Salmon Families Exposed to Environmental Stress

    Science.gov (United States)

    Solberg, Monica Favnebøe; Skaala, Øystein; Nilsen, Frank; Glover, Kevin Alan

    2013-01-01

    One of the most important traits linked with the successful domestication of animals is reducing their sensitivity to environmental stressors in the human controlled environment. In order to examine whether domestication selection in Atlantic salmon Salmo salar L., over approximately ten generations, has inadvertently selected for reduced responsiveness to stress, we compared the growth reaction norms of 29 wild, hybrid and domesticated families reared together under standard hatchery conditions (control) and in the presence of a stressor (reduced water level twice daily). The experiment was conducted for a 14 week period. Farmed salmon outgrew wild salmon 1∶2.93 in the control tanks, and no overlap in mean weight was displayed between families representing the three groups. Thus, the elevation of the reaction norms differed among the groups. Overall, growth was approximately 25% lower in the stressed tanksl; however, farmed salmon outgrew wild salmon 1∶3.42 under these conditions. That farmed salmon maintained a relatively higher growth rate than the wild salmon in the stressed tanks demonstrates a lower responsiveness to stress in the farmed salmon. Thus, flatter reaction norm slopes were displayed in the farmed salmon, demonstrating reduced plasticity for this trait under these specific experimental conditions. For all growth measurements, hybrid salmon displayed intermediate values. Wild salmon displayed higher heritability estimates for body weight than the hybrid and farmed salmon in both environments. This suggests reduced genetic variation for body weight in the farmed contra wild salmon studied here. While these results may be linked to the specific families and stocks investigated, and verification in other stocks and traits is needed, these data are consistent with the theoretical predictions of domestication. PMID:23382901

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

    DEFF Research Database (Denmark)

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

    2010-01-01

    proteins in the cartilage extracellular matrix. Binding studies with recombinant mutated and wild-type G3 proteins showed loss of fibulin-1, fibulin-2, and tenascin-R interactions for the V2303M protein. Mass spectrometric analyses of aggrecan purified from patient cartilage verified that V2303M aggrecan...... is produced and present in the tissue. Our results provide a molecular mechanism for the etiology of familial osteochondritis dissecans and show the importance of the aggrecan C-type lectin interactions for cartilage function in vivo....

  10. Single-nucleotide polymorphisms may cause erroneous results in primer-introduced restriction enzyme analyses: a case of molecular misdiagnosis of homozygous vs heterozygous familial hypercholesterolemia.

    Science.gov (United States)

    Vuorio, A F; Paulin, L; Saltevo, J; Kontula, K

    1999-12-01

    PCR amplification followed by a primer introduced restriction analysis PCR (PIRA-PCR) is a widely used method to detect point mutations. Usually the artificial RFLP is created by siting one nucleotide mismatch near the 3; end of the primer. This does not alter the hybrization of the primer to the target DNA sequence. Unfortunately, unexpected single nucleotide polymorphisms (SNPs) may lead to additional mismatches and result in no amplification of the allele having unexpected SNP. We describe a warning example in which heterozygous familial hypercholesterolemia patient had an unexpected SNP and this led to his misdiagnosis. Copyright 1999 Academic Press.

  11. A novel 'splice site' HCN4 Gene mutation, c.1737+1 G>T, causes familial bradycardia, reduced heart rate response, impaired chronotropic competence and increased short-term heart rate variability.

    Science.gov (United States)

    Hategan, Lidia; Csányi, Beáta; Ördög, Balázs; Kákonyi, Kornél; Tringer, Annamária; Kiss, Orsolya; Orosz, Andrea; Sághy, László; Nagy, István; Hegedűs, Zoltán; Rudas, László; Széll, Márta; Varró, András; Forster, Tamás; Sepp, Róbert

    2017-08-15

    The most important molecular determinant of heart rate regulation in sino-atrial pacemaker cells includes hyperpolarization-activated, cyclic nucleotide-gated ion channels, the major isoform of which is encoded by the HCN4 gene. Mutations affecting the HCN4 gene are associated primarily with sick sinus syndrome. A novel c.1737+1 G>T 'splice-site' HCN4 mutation was identified in a large family with familial bradycardia which co-segregated with the disease providing a two-point LOD score of 4.87. Twelve out of the 22 investigated family members [4 males, 8 females average age 36 (SD 6) years] were considered as clinically affected (heart rateheart rates [62 (SD 8) vs. 73 (SD 8) bpm, p=0.0168) were significantly lower in carriers on 24-hour Holter recordings. Under maximum exercise test carriers achieved significantly lower heart rates than non-carrier family members, and percent heart rate reserve and percent corrected heart rate reserve were significantly lower in carriers. Applying rigorous criteria for chronotropic incompetence a higher number of carriers exhibited chronotropic incompetence. Parameters, characterizing short-term variability of heart rate (i.e. rMSSD and pNN50%) were increased in carrier family members, even after normalization for heart rate, in the 24-hour ECG recordings with the same relative increase in 5-minute recordings. The identified novel 'splice site' HCN4 gene mutation, c.1737+1 G>T, causes familial bradycardia and leads to reduced heart rate response, impaired chronotropic competence and increased short-term heart rate variability in the mutation carriers. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. [Efficacy on hemiplegic spasticity treated with plum blossom needle tapping therapy at the key points and Bobath therapy: a randomized controlled trial].

    Science.gov (United States)

    Wang, Fei; Zhang, Lijuan; Wang, Jianhua; Shi, Yan; Zheng, Liya

    2015-08-01

    To evaluate the efficacy on hemiplegic spasticity after cerebral infarction treated with plum blossom needle tapping therapy at the key points and Bobath therapy. Eighty patients were collected, in compliance with the inclusive criteria of hemiplegic spasticity after cerebral infarction, and randomized into an observation group and a control group, 40 cases in each one. In the control group, Bobath manipulation therapy was adopted to relieve spasticity and the treatment of 8 weeks was required. In the observation group, on the basis of the treatment as the control group, the tapping therapy with plum blossom needle was applied to the key points, named Jianyu (LI 15), Jianliao (LI 14), Jianzhen (SI 9), Hegu (LI 4), Chengfu (BL 36), Zusanli (ST 36), Xiyangguan (GB 33), etc. The treatment was given for 15 min each time, once a day. Before treatment, after 4 and 8 weeks of treatment, the Fugl-Meyer assessment (FMA) and Barthel index (BI) were adopted to evaluate the motor function of the extremity and the activity of daily life in the patients of the two groups separately. The modified Ashworth scale was used to evaluate the effect of anti-spasticity. In 4 and 8 weeks of treatment, FMA: scores and BI scores were all significantly increased as compared with those before treatment in the two groups: (both Ptreatment in the observation group were significantly better than those in the control group (all Ptreatment, the scores of spasticity state were improved as compared with those before treatment in the patients of the two groups (all Ptreatment in the observation group was significantly better than that in the control group (Ptreatment, the total effective rate of anti-spasticity was 90. 0% (36/40) in the observation group, better than 75. 0% (30/40) in the control group (Pspasticity in the patients of cerebral infarction and improves the motor function of extremity and the activity of daily life.

  13. The effect of progressive task-oriented training on a supplementary tilt table on lower extremity muscle strength and gait recovery in patients with hemiplegic stroke.

    Science.gov (United States)

    Kim, Chang-Yong; Lee, Jung-Sun; Kim, Hyeong-Dong; Kim, June-Sun

    2015-02-01

    The purpose of this study was to determine the influence of progressive task-oriented training on a supplementary tilt table on the lower extremity (LE) muscle strength and spatiotemporal parameters of gait in subjects with hemiplegic stroke. Thirty subjects between three and nine months post stroke were included in this study. Thirty subjects were randomly allocated to a control group (CG, n1=10), experimental group I (EG1, n2=10), and experimental group II (EG2, n3=10). All of the subjects received routine therapy for half an hour, five times a week for three weeks and additionally received training on the following three different tilt table applications for 20min a day: (1) both knee belts of the tilt table were fastened (CG), (2) only the affected side knee belt of the tilt table was fastened and one-leg standing training was performed using the less-affected LE (EG1), and (3) only the affected side knee belt of the tilt table was fastened and progressive task-oriented training was performed using the less-affected LE (EG2). The effect of tilt table applications was assessed using a hand-held dynamometer for LE muscle strength and GAITRite for spatiotemporal gait data. Our results showed that there was a significantly greater increase in the strength of all LE muscle groups, gait velocity, cadence, and stride length, a decrease in the double limb support period, and an improvement in gait asymmetry in subjects who underwent progressive task-oriented training on a supplementary tilt table compared to those in the other groups. These findings suggest that progressive task-oriented training on a supplementary tilt table can improve the LE muscle strength and spatiotemporal parameters of gait at an early stage of rehabilitation of subjects with hemiplegic stroke. Copyright © 2014 Elsevier B.V. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    Kaishou Xu

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1989-12-01

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

  16. A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.

    Science.gov (United States)

    Metsu, Sofie; Rainger, Jacqueline K; Debacker, Kim; Bernhard, Birgitta; Rooms, Liesbeth; Grafodatskaya, Daria; Weksberg, Rosanna; Fombonne, Eric; Taylor, Martin S; Scherer, Stephen W; Kooy, R Frank; FitzPatrick, David R

    2014-11-01

    We report de novo occurrence of the 7p11.2 folate-sensitive fragile site FRA7A in a male with an autistic spectrum disorder (ASD) due to a CGG-repeat expansion mutation (∼450 repeats) in a 5' intron of ZNF713. This expanded allele showed hypermethylation of the adjacent CpG island with reduced ZNF713 expression observed in a proband-derived lymphoblastoid cell line (LCL). His unaffected mother carried an unmethylated premutation (85 repeats). This CGG-repeat showed length polymorphism in control samples (five to 22 repeats). In a second unrelated family, three siblings with ASD and their unaffected father were found to carry FRA7A premutations, which were partially or mosaically methylated. In one of the affected siblings, mitotic instability of the premutation was observed. ZNF713 expression in LCLs in this family was increased in three of these four premutation carriers. A firm link cannot yet be established between ASD and the repeat expansion mutation but plausible pathogenic mechanisms are discussed. © 2014 WILEY PERIODICALS, INC.

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

    NARCIS (Netherlands)

    J. Knijnenburg (Jeroen); Y. van Bever (Yolande); L.O. Hulsman (Lorette ); C. van Kempen (Chantal); G.M. Bolman (Galhana); R.L.E. van Loon (Rosa Laura); H.B. Beverloo (Berna); L.J.C.M. van Zutven (Laura)

    2012-01-01

    textabstractCat eye syndrome (CES) is caused by a gain of the proximal part of chromosome 22. Usually, a supernumerary marker chromosome is present, containing two extra copies of the chromosome 22q11.1q11.21 region. More sporadically, the gain is present intrachromosomally. The critical region for

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

    Directory of Open Access Journals (Sweden)

    Anthony Worsley

    2017-01-01

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

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

    Science.gov (United States)

    Worsley, Anthony; Wang, Wei; Sarmugam, Rani; Pham, Quynh; Februhartanty, Judhiastuty; Ridley, Stacey

    2017-01-18

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

  20. A New PAX8 Mutation Causing Congenital Hypothyroidism in Three Generations of a Family Is Associated with Abnormalities in the Urogenital Tract

    NARCIS (Netherlands)

    Carvalho, Ana; Hermanns, Pia; Rodrigues, Ana-Luísa; Sousa, Isabel; Anselmo, João; Bikker, Hennie; Cabral, Rita; Pereira-Duarte, Carlos; Mota-Vieira, Luísa; Pohlenz, Joachim

    2013-01-01

    Background: Although thyroid dysgenesis is the most common cause of congenital hypothyroidism (CH), its molecular basis remains largely elusive. Indeed, in only a minority of cases with thyroid dysgenesis (2%-3%) was it possible to identify an underlying genetic defect. The objective of this study

  1. 1031-1034delTAAC (Leu125Stop: a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes

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    De Molfetta Greice Andreotti

    2012-12-01

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

  2. A new intranuclear microsporidium, Enterospora nucleophila n. sp., causing an emaciative syndrome in a piscine host (Sparus aurata), prompts the redescription of the family Enterocytozoonidae.

    Science.gov (United States)

    Palenzuela, Oswaldo; Redondo, María José; Cali, Ann; Takvorian, Peter M; Alonso-Naveiro, María; Alvarez-Pellitero, Pilar; Sitjà-Bobadilla, Ariadna

    2014-03-01

    The presence of a new microsporidium is believed to be responsible for an emaciative syndrome observed in farmed gilthead sea bream (Sparus aurata) from different facilities along the Spanish coast. Infected fish were approximately half the average weight and significant mortality was attributed to the condition in some facilities. Clinical signs included anorexia, cachexia and pale internal organs. The microsporidium was found mainly in the intestinal mucosa and occasionally in the submucosa. Morphological, histopathological, ultrastructural and molecular phylogenetic studies were conducted to characterise this organism. This microsporidium undergoes intranuclear development in rodlet cells and enterocytes, and cytoplasmic development mainly in enterocytes and macrophages. The nucleus-infecting plasmodium contains several diplokarya and displays polysporous development which occurs without an interfacial envelope. In the host cell cytoplasm, the parasite develops within a membrane-bound matrix. In both infection locations, the polar tube precursors appear as disks, first with lucent centres, then as fully dense disks as they fuse to form the polar filament, all before division of the plasmodium into sporoblasts. Up to 16 intranuclear spores result from the sporogonic development of a single plasmodium, whereas more than 40 spores result from several asynchronous reproductive cycles in the cytoplasmic infection. Fixed spores are ellipsoidal and diplokaryotic, with five to six coils of an isofilar polar filament in a single row. ssrDNA-based molecular phylogenetic inference places this parasite as a sister clade to crustacean-infecting species of the Enterocytozoonidae and closer to Enterocytozoon bieneusi than to other fish-infecting microsporidians presenting intranuclear development, i.e. Nucleospora, Paranucleospora and Desmozoon. Our studies result in the erection of a new species, Enterospora nucleophila, within the family Enterocytozoonidae, and the

  3. Is chronic widespread pain a predictor of all-cause morbidity? A 3 year prospective population based study in family practice.

    Science.gov (United States)

    Kadam, Umesh T; Thomas, Elaine; Croft, Peter R

    2005-07-01

    To investigate whether chronic widespread pain predicts illness seen in general practice in a 3 year followup period. A postal questionnaire was conducted in an adult family practice population sample of 3968, and there were 2606 responders (66%). From the 2296 responders who consented to their record review, we identified 184 subjects with chronic widespread pain and assessed their outcome based on the first recorded morbidity within each of 15 categories during a 3 year followup period of computerized family practice records. Psychological distress at baseline was also measured using the Hospital Anxiety and Depression scale. Of the survey responders, 2089 subjects (91%) completed the full 3 year followup period. Out of the 15 main morbidity categories examined, 11 were associated with pain status at baseline. The strongest associations between chronic widespread pain at baseline and subsequent morbidity, adjusted for age, sex, and social deprivation, were for musculoskeletal (MSK) disorders (rate ratio 4.36; 95% confidence interval 3.2-5.9), accidents (2.46; 95% CI 1.2-5.1), mental health disorders (2.24; 95% CI 1.5-3.3), dermatological disorders (2.16; 95% CI 1.6-2.9), and infections (1.96; 95% CI 1.3-2.9). Controlling for psychological distress reduced the strength of associations between chronic widespread pain and future morbidity, but 9 of the 11 were still statistically significant. In the 3 year followup period, an estimated 7.7% of all non-MSK and 12.6% of all MSK morbidity consultations were related to chronic widespread pain as reported at baseline. People who report chronic widespread pain subsequently consult more frequently about non-MSK and MSK problems than people with no pain, and this is not explained by psychological distress. The overall impact on healthcare use is substantial. Our study provides more evidence for overlap and links between morbidities that may be part of a larger pathological or somatization syndrome.

  4. Cardiomyopathy syndrome of atlantic salmon (Salmo salar L.) is caused by a double-stranded RNA virus of the Totiviridae family.

    Science.gov (United States)

    Haugland, Oyvind; Mikalsen, Aase B; Nilsen, Pål; Lindmo, Karine; Thu, Beate J; Eliassen, Trygve M; Roos, Norbert; Rode, Marit; Evensen, Oystein

    2011-06-01

    Cardiomyopathy syndrome (CMS) of farmed and wild Atlantic salmon (Salmo salar L.) is a disease of yet unknown etiology characterized by a necrotizing myocarditis involving the atrium and the spongious part of the heart ventricle. Here, we report the identification of a double-stranded RNA virus likely belonging to the family Totiviridae as the causative agent of the disease. The proposed name of the virus is piscine myocarditis virus (PMCV). On the basis of the RNA-dependent RNA polymerase (RdRp) sequence, PMCV grouped with Giardia lamblia virus and infectious myonecrosis virus of penaeid shrimp. The genome size of PMCV is 6,688 bp, with three open reading frames (ORFs). ORF1 likely encodes the major capsid protein, while ORF2 encodes the RdRp, possibly expressed as a fusion protein with the ORF1 product. ORF3 seems to be translated as a separate protein not described for any previous members of the family Totiviridae. Following experimental challenge with cell culture-grown virus, histopathological changes are observed in heart tissue by 6 weeks postchallenge (p.c.), with peak severity by 9 weeks p.c. Viral genome levels detected by real-time reverse transcription (RT)-PCR peak earlier at 6 to 7 weeks p.c. The virus genome is detected by in situ hybridization in degenerate cardiomyocytes from clinical cases of CMS. Virus genome levels in the hearts from clinical field cases correlate well with the severity of histopathological changes in heart tissue. The identification of the causative agent for CMS is important for improved disease surveillance and disease control and will serve as a basis for vaccine development against the disease.

  5. Increased GABA-A receptor binding and reduced connectivity at the motor cortex in children with hemiplegic cerebral palsy: a multimodal investigation using 18F-fluoroflumazenil PET, immunohistochemistry, and MR imaging.

    Science.gov (United States)

    Park, Hae-Jeong; Kim, Chul Hoon; Park, Eun Sook; Park, Bumhee; Oh, So Ra; Oh, Maeng-Keun; Park, Chang Il; Lee, Jong Doo

    2013-08-01

    γ-aminobutyric acid (GABA)-A receptor-mediated neural transmission is important to promote practice-dependent plasticity after brain injury. This study investigated alterations in GABA-A receptor binding and functional and anatomic connectivity within the motor cortex in children with cerebral palsy (CP). We conducted (18)F-fluoroflumazenil PET on children with hemiplegic CP to investigate whether in vivo GABA-A receptor binding is altered in the ipsilateral or contralateral hemisphere of the lesion site. To evaluate changes in the GABA-A receptor subunit after prenatal brain injury, we performed GABA-A receptor immunohistochemistry using rat pups with a diffuse hypoxic ischemic insult. We also performed diffusion tensor MR imaging and resting-state functional MR imaging on the same children with hemiplegic CP to investigate alterations in anatomic and functional connectivity at the motor cortex with increased GABA-A receptor binding. In children with hemiplegic CP, the (18)F-fluoroflumazenil binding potential was increased within the ipsilateral motor cortex. GABA-A receptors with the α1 subunit were highly expressed exclusively within cortical layers III, IV, and VI of the motor cortex in rat pups. The motor cortex with increased GABA-A receptor binding in children with hemiplegic CP had reduced thalamocortical and corticocortical connectivity, which might be linked to increased GABA-A receptor distribution in cortical layers in rats. Increased expression of the GABA-A receptor α1 subunit within the ipsilateral motor cortex may be an important adaptive mechanism after prenatal brain injury in children with CP but may be associated with improper functional connectivity after birth and have adverse effects on the development of motor plasticity.

  6. 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

  7. Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.

    Science.gov (United States)

    Kallabi, Fakhri; Ellouz, Emna; Tabebi, Mouna; Ben Salah, Ghada; Kaabechi, Naziha; Keskes, Leila; Triki, Chahnez; Kamoun, Hassen

    2016-01-30

    X-linked adrenoleukodystrophy is a neurodegenerative recessive disorder that affects the brain white matter and associated with adrenal insufficiency. It is characterized by an abnormal function of the peroxisomes, which leads to an accumulation of the Very Long Chain Fatty Acids (VLCFA) in plasma and tissues, especially in the cortex of the adrenal glands and the white matter of the central nervous system. Mutations in the ABCD1 gene affect the function of the encoded protein ALDP, an ATP-binding cassette transporter located in the peroxisomal membrane protein. The present study reports the clinical, biochemical and molecular investigation in a Tunisian family with two affected males with childhood cerebral adrenoleukodystrophy. The ABCD1 gene sequencing indicated a novel hemizygous missense mutation c.947A>C (p.Gln316Pro) in the exon 2 of the ABCD1 gene in the patients, their mother and their sisters. This missense variation was predicted to be possibly damaging by the PolyPhen and SIFT prediction software. Although presence of the same mutation c.947A>C in both siblings, they present different clinical signs. Based on the disease's progress, the clinical signs and biochemical aspects between the two siblings, we demonstrate that there is no correlation genotype-phenotype. Copyright © 2015 Elsevier B.V. All rights reserved.

  8. Clasificación difusa de la marcha hemipléjica utilizando indicadores cinemáticos en pelvis (Fuzzy Classification of hemiplegic gait using kinematic indicators in pelvis

    Directory of Open Access Journals (Sweden)

    Ubaldo Padilla-Liendo

    2015-05-01

    Full Text Available This research aims to model fuzzy characteristics of hemiplegic indicators in the pelvis. These indicators are consistent with those used by specialists to classify spastic hemiplegia following the classification proposed by Dr. Gage. The sample consisted of 83 patients with motor dysfunction subtype of spastic hemiplegia. These patients have been treated with protocols of Children's Orthopedic Hospital (HOI in Caracas, Venezuela, between 1999 and 2008. Using statistical tools to indicators in pelvis, the average, the standard deviation and analysis of variance (ANOVA are calculated. These statistics are suitable for building a fuzzy model with membership functions to discriminate types of hemiplegia comparable to the real world. If ANOVA has a value of p << 0.05; hemiplegic indicators in the pelvis are appropriate for the classification. 75% of records were processed and the remaining 25% were used to validate the results according to membership degree and sensitivity. The sensitivity obtained was 89% for type 1, 100% for type 2, 67% for type 3 and 90% for type 4. Experts said that the terms that describe the indicators pelvis, have a natural language, which allows classifying hemiplegic patients in a fuzzy way by degrees of membership

  9. 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

  10. 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

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

    Science.gov (United States)

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

    2011-09-01

    Ellis-van Creveld syndrome (EvC, chondroectodermal dysplasia; OMIM 225500) is an autosomal recessive skeletal dysplasia with associated multisystem involvement. The syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, and abnormal teeth. Congenital heart defects occur in 50-60% of cases. In this study, we report EvC in a 6-year-old Chinese girl with hypodontia and polydactyly, mild short stature, and abnormalities of the knee joints. No signs of short ribs, narrow thorax, or congenital heart defects were found in this patient. The EvC phenotype shares some similarity with Weyers acrofacial dysostosis (Weyer; OMIM 193530), an autosomal dominant disorder clinically characterized by mild short stature, postaxial polydactyly, nail dystrophy, and dysplastic teeth. Mutations in EVC or EVC2 are associated with both EvC syndrome and Weyers acrodental dysostosis, but the two conditions differ in the severity of the phenotype and their pattern of inheritance. In this study, two novel heterozygous EVC2 mutations, IVS5-2A > G and c.2653C > T (Arg885X), were identified in the patient. The IVS5-2A > G mutation was inherited from the patient's mother and the c.2653C > T from her father. Her parents have no phenotypic symptoms similar to those of the patient. These findings extend the mutation spectrum of this malformation syndrome and provide the possibility of prenatal diagnosis for future offspring in this family. Copyright © 2011 Wiley-Liss, Inc.

  12. SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.

    Science.gov (United States)

    Jalilian, Nazanin; Tabatabaiefar, Mohammad Amin; Alimadadi, Hossein; Noori-Daloii, Mohammad Reza

    2017-05-01

    Waardenburg syndrome (WS) is a neurocristopathy characterized by hearing impairment and pigmentary disturbances in hair, eyes, and skin. WS is clinically heterogeneous and can be subdivided into four major types (WS1-WS4) where WS4 or Shah-Waardenburg is diagnosed when WS2 is accompanied by Hirschsprung disease (HD). Mutations of SOX10, EDN3/EDNRB have been identified in association with WS4. This study was aimed to determine the pathogenic variant in an Iranian pedigree affected with WS4. A two-generation pedigree with three affected members and considerable phenotypic heterogeneity was recruited. The proband was a 15-year-old boy, with severe to profound sensorineural hearing impairment, heterochromia iridis, hypoplastic blue eyes and Hirschprung disease. The other two also presented characteristics of WS2 and complained of chronic constipation with normal anorectal reflex. Sequencing of all exons and exon-intron boundaries of SOX10, EDN3/EDNRB revealed a heterozygous variant c.422T > C in exon 3 of SOX10 confirmed by a series of evidence to be pathogenic. It resulted in p.L141P at the protein level. Leucin 141 is located in Nuclear Export signal, HMG box of the protein. This study is the first report of a WS4 family in the Iranian population. The mutation is associated with distinctive phenotypic profile (association of anosmia and chronic constipation with SOX10 mutations) and could further improve diagnosis and counseling of WS in the Iranian population and can contribute to phenotype-directed genetic analysis. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. 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 

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

    Directory of Open Access Journals (Sweden)

    P. Jayaraman

    2010-01-01

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

  15. The predictive value of additional late blood pool imaging to the three-phase bone scan in the diagnosis of reflex sympathetic dystrophy in hemiplegic patients.

    Science.gov (United States)

    Okudan, Berna; Celik, Canan; Serttas, Seyfi; Ozgirgin, Neşe

    2005-12-01

    Reflex sympathetic dystrophy (RSD) is a relative common sequel after hemiplegia. The diagnosis of RSD in hemiplegic patients presents difficult clinical problems, as the symptoms and signs of RSD are not specific and RSD may be due to reasons other than hemiplegia. Bone scintigraphy has been routinely used for the diagnosis of RSD; however, the optimal acquisition protocols, diagnostic patterns and the utility of quantitation are controversial. This prospective study was conducted to demonstrate the higher predictive value of an additional late blood pool image to the three-phase bone scan compared to the regular three-phase bone scans in RSD patients associated with hemiplegia. Thirty-four RSD patients were enrolled into the study. Bone scans according to the new protocol were obtained for all patients. Those patients with either negative or positive bone scans with no evidence of RSD were followed for 6 months. The patients had positive bone scan findings and were symptomatic at the time of the study. Of these, seven patients (58.3%) subsequently became symptomatic and five patients (41.7%) remained asymptomatic at 6 months. None of the patients with negative bone scans had symptoms of RSD on presentation except one case. We conclude that the addition of a late blood pool image increases the predictive value and has an impact on initiating early treatment in asymptomatic patients.

  16. Recurrent LDL-receptor mutation causes familial ...

    African Journals Online (AJOL)

    1995-05-05

    ;. 34: 306-312. 37. Humphries S, Coviello DA, Masturzo P, Balestreri A, Orecchini G, Bertolini S. Variation in the low density IipQprotein gene is associated with differences in plasma low density lipoprotein cholesterol levels in ...

  17. Analysis of mutations causing familial hypercholesterolaemia in ...

    African Journals Online (AJOL)

    High-resolution melting (HRM) and polymerase chain reaction (PCR). The promoter (up to position –298) and coding regions of the LDLR gene together with the p.(R3527Q) mutation (part of exon 26) of APOB and p.(D374Y) (exon 7) of the PCSK9 gene were screened by HRM. Designed oligonucleotide primers for ...

  18. Deficiency of RgpG Causes Major Defects in Cell Division and Biofilm Formation, and Deficiency of LytR-CpsA-Psr Family Proteins Leads to Accumulation of Cell Wall Antigens in Culture Medium by Streptococcus mutans.

    Science.gov (United States)

    De, Arpan; Liao, Sumei; Bitoun, Jacob P; Roth, Randy; Beatty, Wandy L; Wu, Hui; Wen, Zezhang T

    2017-09-01

    Streptococcus mutans is known to possess rhamnose-glucose polysaccharide (RGP), a major cell wall antigen. S. mutans strains deficient in rgpG , encoding the first enzyme of the RGP biosynthesis pathway, were constructed by allelic exchange. The rgpG deficiency had no effect on growth rate but caused major defects in cell division and altered cell morphology. Unlike the coccoid wild type, the rgpG mutant existed primarily in chains of swollen, "squarish" dividing cells. Deficiency of rgpG also causes significant reduction in biofilm formation ( P mutans plays a critical role in cell division and biofilm formation and that BrpA and Psr may be responsible for attachment of cell wall antigens to the cell envelope. IMPORTANCE Streptococcus mutans , a major etiological agent of human dental caries, produces rhamnose-glucose polysaccharide (RGP) as the major cell wall antigen. This study provides direct evidence that deficiency of RgpG, the first enzyme of the RGP biosynthesis pathway, caused major defects in cell division and morphology and reduced biofilm formation by S. mutans , indicative of a significant role of RGP in cell division and biofilm formation in S. mutans These results are novel not only in S. mutans , but also other streptococci that produce RGP. This study also shows that the LytR-CpsA-Psr family proteins BrpA and Psr in S. mutans are involved in attachment of RGP and probably other cell wall glycopolymers to the peptidoglycan. In addition, the results also suggest that BrpA and Psr may play a direct role in cell division and biofilm formation in S. mutans This study reveals new potential targets to develop anticaries therapeutics. Copyright © 2017 American Society for Microbiology.

  19. Dissolved families

    DEFF Research Database (Denmark)

    Christoffersen, Mogens

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

  20. Manifestações dermatológicas desencadeadas por ácaros da família Cheyletidae: relato de caso Dermatological manifestations caused by mites of the Cheyletidae family: a case report

    Directory of Open Access Journals (Sweden)

    Oscarina da Silva Ezequiel

    2003-02-01

    Full Text Available Ácaros da família Cheyletidae são de grande importância na veterinária, por estarem associados com parasitismo em aves e mamíferos. Permanecem, contudo, pouco estudados como fatores etiológicos em dermatites humanas, apesar de serem encontradas referências a esse respeito desde o início do século 20. O objetivo dos autores foi o de analisar, em paciente de seis meses de idade, um caso clínico de dermatite por ácaros da família Cheyletidae. O achado de três espécies dessa família no ecossistema domiciliar desse paciente, associado às manifestações cutâneas e cura definitiva após higienização do ambiente, faz acreditar na necessidade de se considerar essa hipótese diagnóstica nas dermatites humanas.Cheyletidae mites are of great importance in the veterinary sciences, as they are associated with parasitism in birds and mammals. Yet they are barely studied as etiological factors to human dermatitis in spite of being referred to since the beginning of the 20th century. The authors propose to analyze a clinical case of dermatitis caused by mites of the Cheyletidae family in a six-month old patient. The discovery of three species of that family in the patient's domiciliary ecosystem, associated to the cutaneous manifestations correlated with its definitive cure after this environment was sanitized, leads the authors to believe in the need to consider this diagnostic hypothesis for human dermatitis

  1. Recent Origin and Spread of a Common Lithuanian Mutation, G197del LDLR, Causing Familial Hypercholesterolemia: Positive Selection Is Not Always Necessary to Account for Disease Incidence among Ashkenazi Jews

    Science.gov (United States)

    Durst, Ronen; Colombo, Roberto; Shpitzen, Shoshi; Avi, Liat Ben; Friedlander, Yechiel; Wexler, Roni; Raal, Frederick J.; Marais, David A.; Defesche, Joep C.; Mandelshtam, Michail Y.; Kotze, Maritha J.; Leitersdorf, Eran; Meiner, Vardiella

    2001-01-01

    G197del is the most prevalent LDL receptor (LDLR) mutation causing familial hypercholesterolemia (FH) in Ashkenazi Jew (AJ) individuals. The purpose of this study was to determine the origin, age, and population distribution of G197del, as well as to explore environmental and genetic effects on disease expression. Index cases from Israel (n=46), South Africa (n=24), Russia (n=7), The Netherlands (n=1), and the United States (n=1) were enlisted. All trace their ancestry to Lithuania. A highly conserved haplotype (D19S221:104-D19S865:208-D19S413:74) was identified in G197del chromosomes, suggesting the occurrence of a common founder. When two methods were used for analysis of linkage disequilibrium (LD) between flanking polymorphic markers and the disease locus and for the study of the decay of LD over time, the estimated age of the deletion was found to be 20 ± 7 generations (the 95% confidence interval is 15–26 generations), so that the most recent common ancestor of the mutation-bearing chromosomes would date to the 14th century. This corresponds with the founding of the Jewish community of Lithuania (1338 a.d.), as well as with the great demographic expansion of AJ individuals in eastern Europe, which followed this settlement. The penetrance of mutation-linked severe hypercholesterolemia is high (94% of heterozygotes have a baseline concentration of LDL cholesterol (LDL-C) that is >160 mg/dl), and no significant differences in the mean baseline lipid level of G197del carriers from different countries were found. Polymorphisms of apolipoprotein E and of scavenger-receptor class B type I were observed to have minor effects on the plasma lipid profile. With respect to determinative genetic influences on the biochemical phenotype, there is no evidence that could support the possibility of a selective evolutionary metabolic advantage. Therefore, the founder effect in a rapidly expanding population from a limited number of families remains a simple, parsimonious

  2. Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.

    Science.gov (United States)

    Durst, R; Colombo, R; Shpitzen, S; Avi, L B; Friedlander, Y; Wexler, R; Raal, F J; Marais, D A; Defesche, J C; Mandelshtam, M Y; Kotze, M J; Leitersdorf, E; Meiner, V

    2001-05-01

    G197del is the most prevalent LDL receptor (LDLR) mutation causing familial hypercholesterolemia (FH) in Ashkenazi Jew (AJ) individuals. The purpose of this study was to determine the origin, age, and population distribution of G197del, as well as to explore environmental and genetic effects on disease expression. Index cases from Israel (n=46), South Africa (n=24), Russia (n=7), The Netherlands (n=1), and the United States (n=1) were enlisted. All trace their ancestry to Lithuania. A highly conserved haplotype (D19S221:104-D19S865:208-D19S413:74) was identified in G197del chromosomes, suggesting the occurrence of a common founder. When two methods were used for analysis of linkage disequilibrium (LD) between flanking polymorphic markers and the disease locus and for the study of the decay of LD over time, the estimated age of the deletion was found to be 20 +/- 7 generations (the 95% confidence interval is 15-26 generations), so that the most recent common ancestor of the mutation-bearing chromosomes would date to the 14th century. This corresponds with the founding of the Jewish community of Lithuania (1338 a.d.), as well as with the great demographic expansion of AJ individuals in eastern Europe, which followed this settlement. The penetrance of mutation-linked severe hypercholesterolemia is high (94% of heterozygotes have a baseline concentration of LDL cholesterol (LDL-C) that is >160 mg/dl), and no significant differences in the mean baseline lipid level of G197del carriers from different countries were found. Polymorphisms of apolipoprotein E and of scavenger-receptor class B type I were observed to have minor effects on the plasma lipid profile. With respect to determinative genetic influences on the biochemical phenotype, there is no evidence that could support the possibility of a selective evolutionary metabolic advantage. Therefore, the founder effect in a rapidly expanding population from a limited number of families remains a simple, parsimonious

  3. Family Issues

    Science.gov (United States)

    ... and grandparents raise grandchildren. Some children live in foster families, adoptive families, or in stepfamilies. Families are much more than groups of people who share the same genes or the ...

  4. 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 ...

  5. 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 ...

  6. Family Therapy

    Science.gov (United States)

    ... relating to each other Set individual and family goals and work on ways to achieve them Results Family therapy doesn't automatically solve family conflicts or make an unpleasant situation go away. But ...

  7. Molecular basis of familial hypercholesterolemia

    NARCIS (Netherlands)

    Bruikman, Caroline S.; Hovingh, Gerard K.; Kastelein, John J. P.

    2017-01-01

    Purpose of review To provide an overview about the molecular basis of familial hypercholesterolemia. Recent findings Familial hypercholesterolemia is a common hereditary cause of premature coronary heart disease. It has been estimated that 1 in every 250 individuals has heterozygous familial

  8. 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…

  9. 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.

  10. [Familial nanophthalmos].

    Science.gov (United States)

    Martorina, M

    1988-01-01

    Microphthalmos is a rare, potentially devastating condition. Catsch found 30 cases of microphthalmos in a population of 26,735 (0.11%); Scouras et al. among 120,000 ophthalmic out-patients found 70 cases of microphthalmos (0.058%); among 3,557 blind adults Lindstedt found 63 cases (1.77%) and Kissel et al. among 210,000 ophthalmic out-patients found 97 cases (0.046%). Congenital microphthalmos may be: colobomatous, complicated, pure. Pure microphthalmos or nanophthalmos is a rare condition in which the eye is reduced in size with a notably high ratio of the lens volume to eye volume, but no other congenital anomalies are present. The sclera is abnormally thick. Nanophthalmos may be sporadic or hereditary: hereditary transmission may be either recessive or dominant. These eyes are anatomically predisposition to angle-closure glaucoma and occasionally associated with uveal effusion. Angle-closure glaucoma probably is the result of the natural increase in the size of the lens with age; in addition, spontaneous choroidal detachment probably may cause elevation and forward rotation of the ciliary body pushing the lens-iris diaphragm forward, with increasing of the relative pupillary block. The uveal effusion probably is the result of choroidal congestion secondary to obstruction of vortex veins by abnormally thickened sclera. Uveal effusion may also occurs spontaneously in patients with nanophthalmos between the ages of 40 to 60 years. Surgical intervention with sudden decompression of the globe, appears to aggravate the degree of uveal effusion. Three cases of familial nanophthalmos associated with angle-closure glaucoma without uveal effusion not microcornea are reported. The occurrence of nanophthalmos in the same family suggests an autosomal recessive inheritance.(ABSTRACT TRUNCATED AT 250 WORDS)

  11. Family environment patterns in families with bipolar children.

    Science.gov (United States)

    Belardinelli, Cecilia; Hatch, John P; Olvera, Rene L; Fonseca, Manoela; Caetano, Sheila C; Nicoletti, Mark; Pliszka, Steven; Soares, Jair C

    2008-04-01

    We studied the characteristics of family functioning in bipolar children and healthy comparison children. We hypothesized that the family environment of bipolar children would show greater levels of dysfunction as measured by the Family Environment Scale (FES). We compared the family functioning of 36 families that included a child with DSM-IV bipolar disorder versus 29 comparison families that included only healthy children. All subjects and their parents were assessed with the K-SADS-PL interview. The parents completed the FES to assess their current family functioning. Multivariate analysis of variance was used to compare the family environment of families with and without offspring with bipolar disorder. Parents of bipolar children reported lower levels of family cohesion (pconflict (pfamilies where a parent had a history of mood disorders compared to families where parents had no history of mood disorders. Length of illness in the affected child was inversely associated with family cohesion (r=-0.47, p=0.004). Due to the case-control design of the study, we cannot comment on the development of these family problems or attribute their cause specifically to child bipolar disorder. Families with bipolar children show dysfunctional patterns related to interpersonal interactions and personal growth. A distressed family environment should be addressed when treating children with bipolar disorder.

  12. Familial clustering of atrial fibrillation and comparative longitudinal outcomes of familial and non-familial atrial fibrillation

    DEFF Research Database (Denmark)

    Gundlund, Anna; Olesen, Jonas B.; Peterson, Eric D.

    2017-01-01

    Several studies have suggested that family history of atrial fibrillation (AF) is an important risk factor for AF, with several specific genetic regions now implicated through Genome Wide Association Studies. In addition, familial AF is associated with earlier age of onset and affects patients...... with fewer comorbid conditions than their non-familial counterparts. While those with familial AF have worse symptoms, all-cause mortality and risk of thromboembolic complications are similar among familial and non-familial AF patients....

  13. Family Issues

    Science.gov (United States)

    ... Information Publications Awards Partners Contact Us ¿Qué es Autismo? Donate Home What is Autism? What is Autism? ... Information Publications Awards Partners Contact Us ¿Qué es Autismo? Family Issues Home / Living with Autism / Family Issues ...

  14. Familial hypercholesterolemia

    Science.gov (United States)

    ... 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 ...

  15. Family Life

    Science.gov (United States)

    ... relationship. Different families have different communication and coping styles. Consider how your family reacts in a crisis ... Learn more about how to get support for parenting while living with cancer . The importance of communication ...

  16. 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.

  17. Familial gigantism

    NARCIS (Netherlands)

    W.W. de Herder (Wouter)

    2012-01-01

    textabstractFamilial 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.

  18. [Familial seroepidemiology of toxocariasis].

    Science.gov (United States)

    Noemi, I; Rugiero, E; Viovy, A; Cortés, P P; Cerva, J L; González, M; Back, S; Gottlieb, B; Herrera, M E; Cordovez, J

    1994-01-01

    With the objective of defining the intrafamiliar distribution pattern of the infection and illness caused by Toxocara sp., 78 infected families (356 people) were studied for 30 months. At the same time 28 families free of infection were studied, as a control group (97 people). The socioeconomic level was analyzed according to a modified Graffar index. Contac with canine and feline pets, and antecedents of geophagia and onichophagia were found to be risk factors which would facilitate the infection. The average of persons infected, diagnosed by ELISA Toxocara test, was 2.8 per family. The importance of familiar distribution of the infection and its primary prevention is strongly stressed.

  19. Community families

    DEFF Research Database (Denmark)

    Jensen, Lotte Groth; Lou, Stina; Aagaard, Jørgen

    2017-01-01

    Background: Social interventions targeted at people with severe mental illness (SMI) often include volunteers. Volunteers' perspectives are important for these interventions to work. The present paper investigates the experiences of volunteer families who befriend a person with SMI. Material......: Qualitative interviews with members of volunteer families. Discussion: The families were motivated by helping a vulnerable person and to engaging in a rewarding relationship. However, the families often doubted their personal judgment and relied on mental health workers to act as safety net. Conclusion......: The volunteer involvement is meaningful but also challenging. The families value professional support....

  20. The Rafita asteroid family

    Science.gov (United States)

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

    2017-05-01

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

  1. Adolescents, VCRs, and the Family Environment.

    Science.gov (United States)

    Morgan, Michael; And Others

    1990-01-01

    Examines whether the special features of VCRs lead to transformations in families, or whether preexisting family relationships and media orientations determine the uses of VCRs. Finds that VCRs mainly augment and extend family television patterns, and suggests that VCR use is both a cause and a symptom of family conflicts. (KEH)

  2. Spirometry in convalescent hemiplegic patients.

    Science.gov (United States)

    Odia, G I

    1978-07-01

    The forced vital capacity (FVC), forced expiratory volume in one second (FEV1) and peak expiratory flow rate (PEFR) were determined in 20 patients with convalescent hemiplegia. The FVC and FEV1 were reduced and the PEFR was within normal range. These results indicate a restrictive ventilatory defect with an FEV% that approached the vital capacity. The physical ability of each patient was assessed on the basis of the time it took to walk a distance of 18.5 meters as quickly as possible. Although it appears from the results that physical ability did not bear any relationship to the degree of restrictive ventilatory defect, other parameters of spirometry may be needed to confirm this. The results suggest that the restrictive ventilatory defect will be of more clinical importance in exercise tolerance for strenuous exercise than in ordinary daily activities.

  3. Family resources study: part 1: family resources, family function and caregiver strain in childhood cancer

    Science.gov (United States)

    2011-01-01

    Background Severe illness can disrupt family life, cause family dysfunction, strain resources, and cause caregiver burden. The family's ability to cope with crises depends on their resources. This study sought to assess families of children with cancer in terms of family function-dysfunction, family caregiver strain and the adequacy of family resources using a new family resources assessment instrument. Methods This is a cross-sectional study involving 90 Filipino family caregivers of children undergoing cancer treatment. This used a self-administered questionnaire composed of a new 12-item family resources questionnaire (SCREEM-RES) based on the SCREEM method of analysis, Family APGAR to assess family function-dysfunction; and Modified Caregiver Strain Index to assess strain in caring for the patient. Results More than half of families were either moderately or severely dysfunctional. Close to half of caregivers were either predisposed to strain or experienced severe strain, majority disclosed that their families have inadequate economic resources; many also report inaccessibility to medical help in the community and insufficient educational resources to understand and care for their patients. Resources most often reported as adequate were: family's faith and religion; help from within the family and from health providers. SCREEM-RES showed to be reliable with Cronbach's alpha of 0.80. There is good inter-item correlation between items in each domain: 0.24-0.70. Internal consistency reliability for each domain was also good: 0.40-0.92. Using 2-point scoring system, Cronbach's alpha were slightly lower: full scale (0.70) and for each domain 0.26-.82. Results showed evidence of association between family resources and family function based on the family APGAR but none between family resources and caregiver strain and between family function and caregiver strain. Conclusion Many Filipino families of children with cancer have inadequate resources, especially economic

  4. Family literacy

    DEFF Research Database (Denmark)

    Sehested, Caroline

    2012-01-01

    I Projekt familielæsning, der er et samarbejde mellem Nationalt Videncenter for Læsning og Hillerød Bibliotek, arbejder vi med at få kontakt til de familier, som biblioteket ellers aldrig ser som brugere og dermed også de børn, der vokser op i familier, for hvem bøger og oplæsningssituationer ikk...... er en selvfølgelig del af barndommen. Det, vi vil undersøge og ønsker at være med til at udvikle hos disse familier, er det, man kan kalde family literacy....

  5. This is My Family

    OpenAIRE

    Yeğen, Hale Nur; Çetin, Merve

    2017-01-01

    Me and my family, Families poem, Mother-Father, Brother-Sister, Grandparents, Uncle-Aunt, Cousin, Family, Family handgame, My family tree, Activities (Three In a Family), Digital Games, A family poem, Quiz

  6. Family Reunification

    Science.gov (United States)

    Wulczyn, Fred

    2004-01-01

    Reunifying children placed in foster care with their birth parents is a primary goal of the child welfare system. Yet, relatively little is known about the reunification process. This article analyzes new data on trends in family reunification and discovers: (1) Although most children still exit foster care through family reunification, exit…

  7. Family problems

    International Nuclear Information System (INIS)

    Goldman, T.

    1984-01-01

    Even Grand Unified Theories may not explain the repetitive pattern of fermions in the Standard Model. The abysmal absence of dynamical information about these families is emphasized. The evidence that family quantum numbers exist, and are not conserved, is reviewed. It is argued that rare kaon decays may be the best means to obtain more information on this important question

  8. Genetics Home Reference: familial dysautonomia

    Science.gov (United States)

    ... to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is ... periods of time, which may cause a bluish appearance of the skin or lips (cyanosis) or fainting. ...

  9. Alcohol consumption and breast cancer-specific and all-cause mortality in women diagnosed with breast cancer at the New York site of the Breast Cancer Family Registry.

    Science.gov (United States)

    Zeinomar, Nur; Thai, Ashley; Cloud, Ann J; McDonald, Jasmine A; Liao, Yuyan; Terry, Mary Beth

    2017-01-01

    Alcohol consumption is an established and important risk factor for breast cancer incidence in the general population. However, the relationship between alcohol and mortality among women with breast cancer is less clear. This study examines the effect of alcohol consumption on mortality in women affected with breast cancer at baseline from a high-risk family breast and ovarian cancer registry. We studied 1116 women affected with breast cancer at baseline from the Metropolitan New York Registry. The examined reported alcohol consumption (total of beer, wine, liquor) was defined as the average number of drinks per week reported from age 12 to age at baseline. We assessed vital status of each participant using participant or family reported data and we used the National Death Index to supplement deaths reported through family updates. We used Cox proportional hazards models to estimate the association between alcohol intake and overall mortality (HRO), breast cancer-specific mortality (HRBC), and non-breast cancer mortality (HRNBC), adjusted for confounders. After a mean follow-up of 9.1 years, we observed 211 total deaths and 58 breast cancer deaths. Compared to non-drinkers, we found that both low and moderate to heavy levels of alcohol intake were not associated with greater overall mortality (≤3 drinks/week: HRO: 0.66, 95% CI: 0.38-1.14); > 3 drinks/week: HRO: 1.16, 95% CI: 0.85-1.58), breast cancer-specific mortality (≤ 3 drinks/week: HRBC:0.62, 95% CI: 0.19-2.03; >3 drinks/week: HR BC: 0.96, 95% CI: 0.49-1.89), or non-breast cancer-specific mortality (≤3 drinks/week: HR NBC: 0.73, 95% CI: 0.32-1.6; >3 drinks/week: HRNBC: 1.18, 95% CI: 0.75-1.86). Alcohol intake reported from age 12 to age at baseline was not associated with overall or breast cancer-specific mortality in this cohort of affected women with a family history of breast cancer.

  10. 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.

  11. Familial isolated congenital asplenia: a rare, frequently hereditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others.

    Science.gov (United States)

    Gilbert, Brigitte; Menetrey, Céline; Belin, Valérie; Brosset, Philippe; de Lumley, Lionel; Fisher, Alain

    2002-07-01

    Congenital isolated asplenia may arise as a minor form of situs abnormalities or result from an unrelated specific defect of spleen development. It is a rare life-threatening condition and pneumococcal sepsis is often the first sign of the disease. We report on the case of a deceased 11-month-old girl and her father who developed recurrent pneumococcal meningitis. The fatal evolution in the girl was due to Streptococcus pneumoniae serotype 23 with intermediate penicillin sensitivity 4 h after amoxicillin (100 mg/kg i.v.) administration. Establishing the diagnosis of congenital isolated asplenia in the case of pneumococcal sepsis can be achieved by performing two easy and non-invasive investigations: searching for Howell-Jolly bodies on blood smears and performing ultrasound examination of the abdomen to look for the spleen. In the case of congenital isolated asplenia, use of appropriate prophylaxis could save the lives of affected children. Our review of the literature yielded 31 cases of congenital isolated asplenia. Thirteen were sporadic and 18 were familial cases involving eight families. in the case of Streptococcus pneumoniae sepsis, a systematic search for Howell-Jolly bodies on blood smears and ultrasound examination of the abdomen for the presence of asplenia should be mandatory to detect isolated congenital asplenia. If asplenia is found, potentially life-saving antibiotic prophylaxis and pneumococcal vaccination should be initiated.

  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

    Science.gov (United States)

    2010-01-01

    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 upper limb injection of Bo

  13. 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

  14. Progressive familial intrahepatic cholestasis

    International Nuclear Information System (INIS)

    Mirza, R.; Abbas, Z.; Luck, N.H.; Azam, S.M.Z.; Aziz, S.; Hassan, S.M; Somro, G.B.

    2006-01-01

    Progressive familial intrahepatic cholestasis (PFIC) is an important cause of cholestatic liver disease and biliary cirrhosis in pediatric population. Three cases of PFIC are described that were diagnosed on the basis of family history, pruritis, cirrhosis and / or paucity of interlobular bile ducts on liver biopsy and presence of extrahepatic biliary tree on imaging. These patients were initially labeled as suffering from extra-hepatic biliary atresia and neonatal hepatitis. PFIC-1 and 2 could not be differentiated on histological grounds, since these patients presented late and process of fibrosis was advanced. (author)

  15. Small Families

    Science.gov (United States)

    ... attention and educational advantages, which generally raise her self-esteem. Children in small families, especially first and only ... be for you both to accept the increasing definition of personality that needs to occur as she ...

  16. Family matters

    DEFF Research Database (Denmark)

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

    2013-01-01

    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... scores for the children. For the adjusted associations, we again found the family stress variables in the healthy spouse to be related to the risk of emotional and behavioral problems in the children. CONCLUSIONS: The present results suggest that in ABI families, the children’s emotional functioning...

  17. 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...

  18. Family Literacy

    Directory of Open Access Journals (Sweden)

    Livija Knaflič

    1999-12-01

    Full Text Available Research in child and adult literacy demonstrates that the achievement and the level of literacy that children attain at school is connected with the social and cultural characteristics and the level of literacy of the child's family. This intergenerational transfer of the level of literacy has motivated the search for different ways of improving the level of literacy.The concept of family literacy is based on the assumption that a higher level of parent literacy means that the children may achieve the same, and it also offers better schooling prospects. Family literacy programmes help fami­lies to develop different activities, in­cluding reading and writing skills, both in their community and in everyday life.

  19. Fabry Disease in Families With Hypertrophic Cardiomyopathy

    DEFF Research Database (Denmark)

    Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J

    2017-01-01

    BACKGROUND: The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B...

  20. Super families

    International Nuclear Information System (INIS)

    Amato, N.; Maldonado, R.H.C.

    1989-01-01

    The study on phenomena in the super high energy region, Σ E j > 1000 TeV revealed events that present a big dark spot in central region with high concentration of energy and particles, called halo. Six super families with halo were analysed by Brazil-Japan Cooperation of Cosmic Rays. For each family the lateral distribution of energy density was constructed and R c Σ E (R c ) was estimated. For studying primary composition, the energy correlation with particles released separately in hadrons and gamma rays was analysed. (M.C.K.)

  1. Family matters

    Science.gov (United States)

    Hudson, Kathy L.; Collins, Francis S.

    2013-01-01

    Kathy L. Hudson and Francis S. Collins discuss how and why the US National Institutes of Health worked with the family of Henrietta Lacks, the unwitting source of the HeLa cell line, to craft an agreement for access to HeLa genome data. PMID:23925224

  2. Multiracial Families.

    Science.gov (United States)

    Kenney, Kelley

    The multiracial population is one of the fastest growing segments of the U. S. population. In discussing the multiracial population it is first important to identify and define the groups that are under the heading of multiracial. The literature has included interracial couples, multiracial individuals, and families in which a cross-racial or…

  3. 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)

  4. Family Genericity

    DEFF Research Database (Denmark)

    Ernst, Erik

    2006-01-01

    Type abstraction in object-oriented languages embody two techniques, each with its own strenghts and weaknesses. The first technique is extension, yielding abstraction mechanisms with good support for gradual specification. The prime example is inheritance. The second technique is functional abst...... the result as family genericity. The presented language design has been implemented....

  5. Hb H Hydrops Fetalis Syndrome Caused by Association of the - -(SEA) Deletion and Hb Constant Spring (HBA2: c.427T > C) Mutation in a Chinese Family.

    Science.gov (United States)

    He, Sheng; Zheng, Chenguang; Meng, Dahua; Chen, Rongyu; Zhang, Qiang; Tian, Xiaoxian; Chen, Shaoke

    2015-01-01

    Hb Constant Spring (Hb CS; HBA2: c.427T > C) is an unstable hemoglobin (Hb) variant that results from a nucleotide substitution at the termination codon of the α2-globin gene. Compound heterozygosity for α(0)-thalassemia (α(0)-thal) and Hb CS (- -(SEA)/α(CS)α) results in Hb H/Hb CS disease, which is generally characterized with mild hemolytic anemia, jaundice, and splenomegaly. Here, we describe one case with Hb H/Hb CS disease that presented with fetal anemia and fetal hydrops, known as Hb H (β4) hydrops fetalis. This is the first report of fetal hydrops caused by association of the - -(SEA) deletion and the α(CS)α mutation. Our study highlights the significance of watchful observation using a serial ultrasound method and care of pregnant women who have fetuses found to carry Hb H/Hb CS disease during pregnancy, to guard against the occurrence of fetal hydrops.

  6. Matching career and family related factors for families with children

    OpenAIRE

    Rutkienė, Aušra; Trepulė, Elena

    2015-01-01

    Work-family conflict is a complex, multi-dimensional construct. When families decide to continue their professional career, work and family role matching demands efforts and causes strain. Results of a qualitative research show that having and taking care of pre-school and primary-school age children is one of main conflict reasons. Child-care arrangements have an important impact on parents’ experiences of work and their career paths. Job tenure and involvement into work-team are lower stres...

  7. 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....

  8. Familial dysautonomia

    Science.gov (United States)

    ... in people of Eastern European Jewish ancestry (Ashkenazi Jews). It is caused by a change (mutation) to ... a history of FD may wish to seek genetic counseling if they are thinking of having children.

  9. 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.

  10. 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...

  11. 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.

  12. Family unification within SO(15)

    International Nuclear Information System (INIS)

    Enqvist, K.; Maalampi, J.

    1981-01-01

    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 10 2 GeV/c 2 . 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.)

  13. Family Defense Mechanisms: The Concept and Its Utility to Family Scientists, Practitioners, and Educators.

    Science.gov (United States)

    Schwebel, Andrew I.

    1993-01-01

    Notes that interpersonal conflict among family members and between spouses can cause dissatisfaction and threaten feasibility of marriage. Defines Family Defense Mechanisms (FDMs) as fixed patterns of behaviors that, when followed by spouses and other family members, enable them to better manage their interpersonal differences and conflict.…

  14. Family roles as family functioning regulators

    OpenAIRE

    STEPANYAN ARMINE

    2015-01-01

    The author examines the problems of formation and functioning of family roles. Having social roots, family roles appear on individual level by performing the social function of the formation of family as a social institute.

  15. 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)

  16. From Family Therapy to Family Intervention.

    Science.gov (United States)

    Josephson, Allan M

    2015-07-01

    For many, family therapy refers to sessions in which all family members are present. Yet in contemporary psychiatry there are many ways to work with families in addition to this classic concept. This article proposes family intervention as an encompassing term for a new family paradigm in child and adolescent psychiatry. Developmental psychopathology is a guiding principle of this paradigm. A full range of ways to work with families clinically is described with clinical examples. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. [The crisis of the family as illustrated by statistics].

    Science.gov (United States)

    Als, G

    1989-01-01

    Recent trends concerning the family in Luxembourg are reviewed. The author examines fertility, marriage, and family characteristics and the current changes that have caused many to believe that the institution of the family is in crisis. The causes of these trends are discussed, and future prospects are explored.

  18. 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. ...

  19. Correlation between academic achievements of adolescents from alcoholic families and their roles in the family

    OpenAIRE

    Legeckaitė, Indrė; Pilkauskienė, Ina

    2013-01-01

    Parental alcoholism leads to a dysfunctional environment in the family, which carries the potential to cause various difficulties for the children. The aim of the research is to exam of the correlation between the academic achievements of adolescents from alcoholic families and the adolescent’s role in the family. For this purpose CAST-6 (Children of Alcoholics Screening Test, Hodgins and Shimp, 1995) was used; it is meant for identifying the individuals from alcoholic families. To assess the...

  20. "Causes" of pesticide safety behavior change in Latino farmworker families.

    Science.gov (United States)

    Grzywacz, Joseph G; Arcury, Thomas A; Talton, Jennifer W; D'Agostino, Ralph B; Trejo, Grisel; Mirabelli, Maria C; Quandt, Sara A

    2013-07-01

    To identify the source of behavior change resulting from a health education intervention focused on pesticide safety. Data were from the La Familia Sana demonstration project, a promotora-delivered pesticide safety education intervention conducted with immigrant Latinos (N = 610). The La Familia Sana program produced changes in 3 sets of pesticide safety behaviors. Changes in the conceptual targets of the intervention and promotora attributes explained 0.45-6% and 0.5-3% of the changes in pesticide-related behavior, respectively. The conceptual targets of the La Familia Sana program explained the greatest amount of change in pesticide-related behavior. Promotora attributes also contributed to intervention success.

  1. 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.

  2. Provider deselection: "cause" or "no cause".

    Science.gov (United States)

    Hansen, E

    1996-09-01

    Termination of provider contracts by MCOs rankles most in the provider community. Oftentimes, no cause is given for the termination, as permitted in the contract between the MCO and the provider. Yet, there is always a cause for termination, and providers generally don't like the reason.

  3. Dandruff: Symptoms and Causes

    Science.gov (United States)

    ... specializes in skin conditions (dermatologist). You may have seborrheic dermatitis or another condition that resembles dandruff. Causes Dandruff can have several causes, including: Irritated, oily skin (seborrheic dermatitis). This condition, one of the most frequent causes ...

  4. Causes of Paralysis

    Science.gov (United States)

    ... Donate Living with Paralysis > Health > Causes of paralysis Causes of paralysis There are many conditions that can lead to paralysis. Learn more about the causes of paralysis, including symptoms, research and resources. > Amyotrophic ...

  5. What Causes Down Syndrome?

    Science.gov (United States)

    ... it? Share Facebook Twitter Pinterest Email Print What causes Down syndrome? Down syndrome is caused by a random error ... The Down Syndrome Registry . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  6. Positive Family Functioning.

    Science.gov (United States)

    Sussman, Marvin B.

    The persistence of the nuclear family as the primary social unit in the United States and most all other societies, especially complex ones, is a fact. Values shape the definition of family, especially the "good family," and the "great debate" of this period on family failure, family corruption and the family's near demise originates in…

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

    Science.gov (United States)

    ... Home Health Conditions FENIB Familial encephalopathy with neuroserpin inclusion bodies Printable PDF Open All Close All Enable ... expand/collapse boxes. Description Familial encephalopathy with neuroserpin inclusion bodies ( FENIB ) is a disorder that causes progressive ...

  8. One Family's Struggle with Chickenpox

    Medline Plus

    Full Text Available ... cause flu no such thing as stomach flu pregnancy and flu posters meningitis overview why vaccinate CDC and ... cme Immunizations Chickenpox (Varicella) One family's struggles with chickenpox We provide this video in a variety of formats and lengths for use by your organization free-of- ...

  9. Family Structure and Youths' Outcomes.

    Science.gov (United States)

    Painter, Gary; Levine, David I.

    2000-01-01

    National Education Longitudinal Study data were used to examine whether parents' divorce/remarriage or existing family disadvantages caused such outcomes as teens' lower educational attainment or higher rates of parenthood. Neither divorce nor remarriage during a youth's high school years was strongly correlated with preexisting characteristics of…

  10. Ureterosciatic Hernia Causes Obstructive Uropathy

    Directory of Open Access Journals (Sweden)

    Ping-Ju Tsai

    2008-09-01

    Full Text Available Obstructive uropathy can be caused by urolithiasis, fibrotic ureteral stricture, inflammatory ureteritis with polyp formations, ureteral malignancy and various forms of external compression. Ureteral herniation is a relatively rare cause of obstructive uropathy and has been reported with herniation sites including inguinal canal, femoral canal and sciatic foramen. Most ureteral herniations occur in the inguinal area. In the literature, previous cases of sciatic ureter have been treated with observation in asymptomatic patients or with surgery in patients with obstructive uropathy or clinical symptomatology. We report the case of a 91-year-old female with asymptomatic hydronephrosis of the left kidney due to extremely rare ureterosciatic herniation. Her global renal function was acceptable. As she was elderly and a poor surgical candidate, watchful waiting was recommended after discussion with the patient and her family.

  11. Family Matters

    Directory of Open Access Journals (Sweden)

    Isabel de Riquer

    2011-04-01

    Full Text Available The scene is at the court of James I of Aragon in the mid-13th c., the place is the royal palace of Barcelona or any of the crown's other possessions, and the dramatis personae include the heir to the throne, prince Peire (future king Peire the Great, and the court's most famous troubadour, Cerverí de Girona (fl. 1259-85. Author of the largest corpus of any Occitan troubadour (114 poems, Cerverì distinguishes himself by the surprises and challenges he presents to his audience: an alba (the most openly erotic genre to the Virgin Mary, the Cobla in sis lengatges (Cobla in Six Languages, the apparently nonsensical Vers estrayn. Cerverì borrows equally from the folk-inspired Galician-Portuguese poetry and from the French tradition, including the chanson de malmariée, where a young woman bemoans being sold off by her family to an old man (gilos, "Jealous" and separated from her youthful doulz amis, some even praying for the death of their husband. Both within that tradition and among Cerverì's three chansons de malmariée, the Gelosesca stands out as "especially determined" to lose her husband, using every "solution" (prayer, black magic, potion or experimenta.

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

    DEFF Research Database (Denmark)

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

    2013-01-01

    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...... for 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....... The participants were recruited through hospital departments and a lay organisation for HD in Norway. Data from the interviews were analysed with systematic text condensation. RESULTS: Huntington's disease could have a substantial impact on the family system, the shape of roles among family members...

  13. Gender and family characteristics differences in work-family, family ...

    African Journals Online (AJOL)

    The study examined the significant gender and family characteristics differences in work-family conflict, family-work conflict among workers in Lagos metropolis. Employee's perception as reflected in self reports constituted the central features of a model underlying the study, as perception is believed to be related to the ...

  14. [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…

  15. The surface electromyography analysis of the non-plegic upper limb of hemiplegic subjects Análise da eletromiografia de superfície do membro superior não plégico de hemiplégicos

    Directory of Open Access Journals (Sweden)

    Heloyse U Kuriki

    2010-08-01

    Full Text Available Many authors have studied physical and functional changes in individuals post-stroke, but there are few studies that assess changes in the non-plegic side of hemiplegic subjects. This study aimed to compare the electromyographic activity in the forearm muscles of spastic patients and clinically healthy individuals, to determine if there is difference between the non-plegic side of hemiplegics and the dominant member of normal individuals. 22 hemiplegic subjects and 15 clinically healthy subjects were submitted to electromyography of the flexor and extensor carpi ulnaris muscles during wrist flexion and extension. The flexor muscles activation of stroke group (average 464.6 u.n was significantly higher than the same muscles in control group (mean: 106.3 u.n. during the wrist flexion, what shows that the non affected side does not present activation in the standart of normality found in the control group.Muitos autores estudaram as modificações funcionais e físicas em indivíduos pós-acidente vascular cerebral; porém, poucos estudos avaliam alterações no hemicorpo não plégico de indivíduos hemiplégicos. O objetivo deste estudo foi comparar a atividade eletromiográfica nos músculos do antebraço de pacientes espásticos e indivíduos clinicamente saudáveis, para averiguar se há diferença entre o lado não plégico de indivíduos hemiplégicos e o lado dominante de indivíduos clinicamente saudáveis. 22 indivíduos hemiplégicos e 15 clinicamente saudáveis foram submetidos à eletromiografia dos músculos flexor e extensor ulnar do carpo durante a flexão e extensão do punho. A ativação dos músculos flexores dos hemiplégicos (média: 464,6 u.n, foi significantemente maior que nos indivíduos do grupo controle (média: 106,3 u.n durante o movimento de flexão do punho, o que demonstra que o hemicorpo não acometido dos pacientes estudados não apresenta o comportamento padrão de normalidade encontrado no grupo controle.

  16. 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

  17. Planning for Family Development.

    Science.gov (United States)

    Montgomery, Mary Jean; Quinn, Jim

    This manual is designed to help child care providers develop, implement, and evaluate a family development plan for at-risk families. The plan's five components are designed to: (1) identify family strengths; (2) identify family needs; (3) identify community resources; (4) develop and implement a family action plan; and (5) monitor family…

  18. 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.

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

    NARCIS (Netherlands)

    Muller, P.H.A.M

    2009-01-01

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

  20. What Causes Menstrual Irregularities?

    Science.gov (United States)

    ... Share Facebook Twitter Pinterest Email Print What causes menstrual irregularities? Menstrual irregularities can have a variety of ... health problems Common causes of heavy or prolonged menstrual bleeding include: 2 , 7 Adolescence (during which cycles ...

  1. What Causes Rett Syndrome?

    Science.gov (United States)

    ... it? Share Facebook Twitter Pinterest Email Print What causes Rett syndrome? Most cases of Rett syndrome are ... in the MECP2 gene represent the most prevalent causes of Rett syndrome. The development and severity of ...

  2. Leading Causes of Blindness

    Science.gov (United States)

    ... Home Current Issue Past Issues Feature: Vision Leading Causes of Blindness Past Issues / Summer 2008 Table of ... million Americans have cataracts. They are the leading cause of blindness in the world. By age 80, ...

  3. Causes of Effects and Effects of Causes

    Science.gov (United States)

    Pearl, Judea

    2015-01-01

    This article summarizes a conceptual framework and simple mathematical methods of estimating the probability that one event was a necessary cause of another, as interpreted by lawmakers. We show that the fusion of observational and experimental data can yield informative bounds that, under certain circumstances, meet legal criteria of causation.…

  4. Using Volunteer Families in Teaching Family Sociology

    Science.gov (United States)

    Gunter, B. G.

    1974-01-01

    Describes a method for teaching family sociology to students by utilizing volunteer families. Benefits of the approach were that students became involved in subject matter of a course on a semi-empirical level, and they became aware of all dimensions of family life. (EK)

  5. What Causes Bad Breath?

    Science.gov (United States)

    ... Safe Videos for Educators Search English Español What Causes Bad Breath? KidsHealth / For Teens / What Causes Bad Breath? Print en español ¿Qué es lo ... through your mouth. Smoking is also a major cause of bad breath. There are lots of myths ...

  6. Laryngospasm: What Causes It?

    Science.gov (United States)

    Laryngospasm: What causes it? What causes laryngospasm? Answers from Edward C. Rosenow III, M.D. Laryngospasm (luh-RING-go-spaz-um) is a spasm of the vocal ... be alarming, but it's not life-threatening. The cause of vocal cord spasms is often unknown, but ...

  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. Improving Family Communications

    Science.gov (United States)

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

  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. Choosing a Family Doctor

    Science.gov (United States)

    ... and Birth Control Sex and Sexuality Birth Control Family Health Infants and Toddlers Kids and Teens Pregnancy ... Home Prevention and Wellness Staying Healthy Choosing a Family Doctor Choosing a Family Doctor Share Print What ...

  11. Genetic Causes of Mental Retardation in Bushehr Province

    Directory of Open Access Journals (Sweden)

    Elaheh Papari

    2013-01-01

    Full Text Available Objective: About 50% of severe to profound intellectual disabilities (ID are caused by genetic factors. In this study we decided to investigate the genetic causes of ID in 69 Bushehrian families to provide information for genetic counseling, carrier detection, and prenatal diagnosis. Materials & Methods: In this study we excluded known chromosomal abnormalities. The majority of families had more than two affected individuals. Karyotyping for each proband with physical malformations was performed. One affected member from each family was tested for FMR1 mutation and metabolic screening. Families with ID and primary microcephaly were checked for 7 known MCPH genes by linkage analysis. Results: Chromosomal abnormality was not found in any of the families. One family had full mutation of CGG repeat of Fragile-X syndrome. Six out of 18 families with MCPH showed linkage to one of the MCPH loci. One family had a syndrome associated with microcephaly. Two families with microcephaly and one family with a non-syndromic form of mental retardation without microcephaly showed an autosomal dominant mode of inheritance. Conclusion: According to our results genetic causes of ID are very heterogeneous and autosomal recessive primary microcephaly has an extremely high prevalence (26.09% in Bushehr province of Iran.

  12. Family Health History and Diabetes

    Science.gov (United States)

    ... Diabetes Diabetes Risk Test Family Health History Quiz Family Health History Quiz Family health history is an ... health problems. Four Questions You Should Ask Your Family About Diabetes & Family Health History Knowing your family ...

  13. 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...

  14. 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.

  15. Non–family Managers in Family Small and medium firms

    Directory of Open Access Journals (Sweden)

    Lucila Mariel Garavaglia

    2017-11-01

    According to the main results, there is a wide variety of causes for hiring non-family managers, and they are asked to do several tasks of different kinds. In addition, it has been found that the recruitment and selection processes are quite informal, with an active participation of the familymember entrepreneur. Finally, the results show a strict employment relationship between the parties.

  16. 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.

  17. Genetic anticipation in Swedish Lynch syndrome families

    DEFF Research Database (Denmark)

    von Salomé, Jenny; Boonstra, Philip S; Karimi, Masoud

    2017-01-01

    Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS) caused by mutations in DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 is the most common. Patients with LS have an increased risk of early onset colon and endometrial cancer, but also other tumors that generally have......-2013. We analyzed a homogenous group of mutation carriers, utilizing information from both affected and non-affected family members. In total, 239 families with a mismatch repair gene mutation (96 MLH1 families, 90 MSH2 families including one family with an EPCAM-MSH2 deletion, 39 MSH6 families, 12 PMS2...... of diagnosis per generation. An alternative analysis using a mixed-effects Cox proportional hazards model (COX-R) estimates a hazard ratio of exp(0.171), or about 1.19, for age of diagnosis between consecutive generations. LS-associated gene-specific anticipation effects are evident for MSH2 (2.6 years...

  18. Family therapy in the treatment of adolescents.

    Science.gov (United States)

    Matorin, S; Greenberg, L

    1992-06-01

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

  19. Causes of corruption

    OpenAIRE

    Dahlström, Tobias

    2009-01-01

    This thesis consists of an introductory chapter and four essays. Although possible to read individually they all analyse the causes of corruption and hence complement each other. The four essays collectively illustrate the complex nature of corruption. Often many interrelated factors work together in causing corruption. Hence, discovering how these factors, individually and together, cause corruption is vital in combating corruption. The first essay helps to explain the path dependency of cor...

  20. Arrhythmogenic causes of syncope.

    Science.gov (United States)

    Swayampakula, Anil Kumar; Fong, Jane; Kulkarni, Aparna

    2014-12-01

    Syncope is one of the common presenting complaints in the pediatric emergency department. The evaluation may begin with consideration of the most common causes. However, it is important to exclude the rare causes, including cardiac arrhythmias that may lead to sudden death in young patients. Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia are some of the rare causes of primary electrical disorders of the heart. High suspicion of these disorders in the evaluation, and appropriate referral to a cardiologist may prevent sudden deaths in these patients. Here, we report 2 children with arrhythmogenic causes of syncope.

  1. Mutations causative of familial hypercholesterolaemia

    DEFF Research Database (Denmark)

    Benn, Marianne; Watts, Gerald F; Tybjærg-Hansen, Anne

    2016-01-01

    causing mutations in 98 098 participants from the general population, the Copenhagen General Population Study. METHODS AND RESULTS: We genotyped for LDLR[W23X;W66G;W556S] and APOB[R3500Q] accounting for 38.7% of pathogenic FH mutations in Copenhagen. Clinical FH assessment excluded mutation information......-cholesterol concentration to discriminate between mutation carriers and non-carriers was 4.4 mmol/L. CONCLUSION: Familial hypercholesterolaemia-causing mutations are estimated to occur in 1:217 in the general population and are best identified by a definite or probable phenotypic diagnosis of FH based on the DLCN criteria...

  2. 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...

  3. Competitiveness of Family Businesses

    NARCIS (Netherlands)

    M.A.A.M. Leenders (Mark); E. Waarts (Eric)

    2001-01-01

    textabstractThe purpose of this study is to systematically examine the advantages and disadvantages of different types of family businesses. We distinguish four different types of family businesses based on their family and business orientation: (1) House of Business, (2) Family Money Machine, (3)

  4. Pure γ-families

    International Nuclear Information System (INIS)

    Dunaevskii, A.M.

    1977-01-01

    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.)

  5. Marital and family therapy.

    Science.gov (United States)

    Ahluwalia, Hargun; Anand, Tanya; Suman, L N

    2018-02-01

    Substance abuse is a family disease that adversely impacts both the user and the user's family. The family can act as a risk factor for the development of substance abuse among children and adults. The family can also be involved in therapy to either help the recovery process or prevent substance abuse. Marital and family therapy have been found to be effective in reducing the severity of substance use, lowering marital and family conflict, improving family communication and cohesion as well as effective parenting practices. Behavioural Couples Therapy has been found to have good empirical support for bringing about the desired changes in both substance abuse and marital relationship. While targeting entire families, the most common evidenced based family interventions are Brief Strategic Family Therapy, Multidimensional Family Therapy, Family Behaviour Therapy, Functional Family Therapy and Community Reinforcement Programme. Marital and family therapy have to be sensitive to gender and culture. Effective use of marital and family therapy requires adequate training to equip practitioners in adequately treating not only substance use disorders and family pathology, but also in treating co-morbid mental health conditions.

  6. 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…

  7. Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study

    NARCIS (Netherlands)

    Sijbrands, E. J.; Westendorp, R. G.; Defesche, J. C.; de Meier, P. H.; Smelt, A. H.; Kastelein, J. J.

    2001-01-01

    To estimate all cause mortality from untreated familial hypercholesterolaemia free from selection for coronary artery disease. Family tree mortality study. Large pedigree in Netherlands traced back to a single pair of ancestors in the 19th century. Subjects: All members of pedigree aged over 20

  8. 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…

  9. The incestoid family.

    Science.gov (United States)

    Braun-Scharm, H; Frank, R

    1989-01-01

    Following a short overall view on family therapeutic models of close family systems and on incest family models, the concept "incestoid family" is conceived. In this way, families should be exemplified in which it is true that no manifest incest occurs, but by going from one generation to another, relationships between parents and children, resembling a relationship between partners and the constellation of subliminal enticement and seduction situations promote pseudosexual behaviour patterns; the most conspicuous symptom of such a family is hyper- as well as hyposexualised behaviour in children and young people. Definitive and conceptual demarcations to oedipal and incestuous structures were undertaken. Four case descriptions should illustrate the clinic of incestoid families.

  10. Family structure and eating behavior disorders.

    Science.gov (United States)

    Mateos-Agut, Manuel; García-Alonso, Isabel; De la Gándara-Martín, Jesús J; Vegas-Miguel, María I; Sebastián-Vega, Carlota; Sanz-Cid, Beatriz; Martínez-Villares, Ana; Martín-Martínez, Esther

    2014-01-01

    The modern way of life, characterized by the cult of individualism, discredited authority, and a proliferation of points of view about reality, has modified family structure. This social structure imbues families and the way that its members become ill, in such a way that eating behavior disorders (EDs) have become a typically postmodern way of becoming ill. The aim is to understand the systemic structure and vulnerability of families by comparing 108 families with members who have ED to 108 families without pathology. A questionnaire administered by an interview with trained personnel was used. Families with ED have a different structure from the families in the control group. They have more psychiatric history and poor coping skills. The family hierarchy is not clearly defined and the leadership is diffuse, with strict and unpredictable rules, more intergenerational coalitions, and fewer alliances. The relationship between the parents is distant or confrontational, and their attitudes towards their children are complacent and selfish, with ambivalent and unaffectionate bonds. In the case of mothers, this is manifested by separation anxiety and dyadic dependence. Their expectations concerning their offspring are either very demanding and unrealistic, or indifferent, and there is less control of their behavior, in addition to poor organization of the family meals. The structural differences between the two groups of families seem to be important for the occurrence and maintenance of EDs, although they may not be the only cause. The results suggest strategies for clinical intervention in EDs.

  11. What causes education?

    DEFF Research Database (Denmark)

    Hyldgaard, Kirsten

    2017-01-01

    Why do universities not give priority to education? The article suggests a formal answer on the basis of Lacan’s four discourses. Why education? Why do we learn? Is it caused by a natural curiosity or is it caused by anxiety? Is it at all possible to control the influence that we undoubtedly have...

  12. CAUSES OF OCCUPATIONAL INJURIES

    NARCIS (Netherlands)

    KINGMA, J

    1994-01-01

    The causes of occupational injuries (N = 2,365) were investigated. Accidents with machinery and hand tools were the two main causes (49.9%). 89% of the patients with occupational injuries were male. The highest risk group were in the age category of 19 years or less (51.9%). This age group also

  13. Family emotional expressiveness and family structure

    Directory of Open Access Journals (Sweden)

    Čotar-Konrad Sonja

    2016-01-01

    Full Text Available The present paper scrutinizes the relationship between family emotional expressiveness (i.e., the tendency to express dominant and/or submissive positive and negative emotions and components of family structure as proposed in Olson’s Circumplex model (i.e., cohesion and flexibility, family communication, and satisfaction in families with adolescents. The study was conducted on a sample of 514 Slovenian adolescents, who filled out two questionnaires: the Slovenian version of Family Emotional Expressiveness - FEQ and FACES IV. The results revealed that all four basic dimensions of family functioning were significantly associated with higher/more frequent expressions of positive submissive emotions, as well as with lower/less frequent expressions of negative dominant emotions. Moreover, expressions of negative submissive emotions explained a small, but significant amount of variance in three out of four family functioning variables (satisfaction, flexibility, and communication. The importance of particular aspects of emotional expressiveness for family cohesion, flexibility, communication, and satisfaction is discussed, and the relevance of present findings for family counselling is outlined.

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

    Science.gov (United States)

    Bögels, Susan M; Brechman-Toussaint, Margaret L

    2006-11-01

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

  15. Family participation in intensive care unit rounds: Comparing family and provider perspectives.

    Science.gov (United States)

    Au, Selena S; Roze des Ordons, Amanda; Soo, Andrea; Guienguere, Simon; Stelfox, Henry T

    2017-04-01

    To describe and compare intensive care unit (ICU) patient family member and provider experiences, preferences, and perceptions of family participation in ICU rounds. Cross-sectional survey of ICU family members and providers of patients admitted to 4 medical-surgical ICUs from September 2014 to March 2015. Surveys were completed by 63 (62%) family members and 258 (43%) providers. Provider respondents included physicians (9%), nurses (56%), respiratory therapists (24%), and other ICU team members (11%). Although 38% of providers estimated only moderate family member interest in participating in rounds, 97% of family members expressed high interest. Family members and providers reported listening (95% vs 96%; P=.594) and sharing information about the patient (82% vs 82%; P=.995) as appropriate roles for family members during rounds, but differed in their perceptions on asking questions (75% vs 86%; P=.043) and participating in decision making (36% vs 59%; P=.003). Compared with family members, providers were more likely to perceive family participation in rounds to cause family stress (7% vs 22%; P=.020) and confusion (0% vs 28%; PFamily members and providers share some perspectives on family participation in ICU rounds although other perspectives are discordant, with implications for communication strategies and collaborative decision making. Copyright © 2016 Elsevier Inc. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    Nicolas Pineda Trujillo

    2009-05-01

    -hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi; mso-fareast-language:EN-US;} .MsoPapDefault {mso-style-type:export-only; margin-bottom:10.0pt; line-height:115%;} @page Section1 {size:612.0pt 792.0pt; margin:70.85pt 3.0cm 70.85pt 3.0cm; mso-header-margin:36.0pt; mso-footer-margin:36.0pt; mso-paper-source:0;} div.Section1 {page:Section1;} -->

    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.

  17. Genetics Home Reference: sporadic hemiplegic migraine

    Science.gov (United States)

    ... Haan J, Pusch M, van den Maagdenberg AM, Ferrari MD, Dichgans M. Systematic analysis of three FHM ... van den Maagdenberg AM, Haan J, Terwindt GM, Ferrari MD. Migraine: gene mutations and functional consequences. Curr ...

  18. 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.

  19. Family dynamics during pregnancy.

    Science.gov (United States)

    Tomlinson, B; White, M A; Wilson, M E

    1990-06-01

    Pregnancy as a transition in family life is perceived as a crisis by many families. Sociodemographic characteristics of families during pregnancy can serve as important sources of information to nurses in drawing out family strengths and providing assistance during this crisis. Family dynamics were measured in 160 women in the third trimester of pregnancy. Half were in their first pregnancy and half were in their second pregnancy. The research question addressed the relationship between family dynamics and several sociodemographic characteristics. Statistically significant relationships were found between the sociodemographic variables of marital and social status, and several dimensions of family dynamics. Families in which couples were married and who enjoyed a higher social status had more positive family dynamics in the dimensions of individuation, stability, flexibility, mutuality and communication. Race, maternal age and parity were not related to level of family dynamics. Strengths in families who have more positive dynamics may be explained by availability of resources, their expertise in using the system, societal approval of marriage and internal family support from the husband. It is essential for nursing care to include systematic family assessment, socialization in effectively using the health care system and individualized family guidance.

  20. Putting the "family" back into family therapy.

    Science.gov (United States)

    Breunlin, Douglas C; Jacobsen, Elizabeth

    2014-09-01

    In this article, we examine the field of family therapy by drawing a distinction between two forms of practice: Whole Family Therapy (WFT), defined as treating the whole family, and Relational Family Therapy (RFT), defined as working with a subsystem of the family or an individual while retaining a systemic lens. Our thesis is that the practice of WFT has been in decline for some time and steps must be taken to keep it from becoming a defunct practice. We consider the trajectory of WFT and RFT throughout the development of family therapy through reference to the people, the literature, training, and practice patterns associated with family therapy. We remind the reader of the many benefits of WFT and suggest that today WFT is likely to be practiced in conjunction with RFT and individual therapy. Since training of family therapists today is largely located in degree-granting programs, we identify constraints to including WFT in such programs. We conclude by offering suggestions that can enhance a program's ability to train students in WFT. © 2014 FPI, Inc.

  1. Dyslexia: Causes, Symptoms, Definition.

    Science.gov (United States)

    Shannon, Albert J.

    1986-01-01

    The article reviews proposed causes and observable symptoms that characterize dyslexia, concluding that individualized analysis and specialized treatments are required and that, until an operational definition can be agreed upon, use of the label "dyslexia" is counterproductive. (DB)

  2. What causes IBD?

    Indian Academy of Sciences (India)

    First page Back Continue Last page Overview Graphics. What causes IBD? An overly aggressive cell-mediated immune response to luminal commensal bacteria in genetically susceptible individuals. Sartor, Gastroenterology 2004.

  3. What Causes Cushing's Syndrome?

    Science.gov (United States)

    ... it causes has been given its own name, Cushing disease. Pituitary adenomas account for 70% (in adults) to ... is sometimes called ectopic (pronounced ek-TOP-ik ) Cushing disease and accounts for about 15% of non-medicine- ...

  4. [Does vaccination cause disease?].

    Science.gov (United States)

    Zingg, W

    2005-10-01

    Not many inventions in medical history have influenced our society as much as vaccination. The concept is old and simple. When Edward Jenner published his work on cowpox, "variolation" was quite common. In this procedure, pus of patients with mild smallpox was transferred to healthy individuals. Meanwhile smallpox has been eradicated worldwide. Diseases such as poliomyelitis, diphtheria or tetanus almost disappeared in industrialized countries. The same happened with epiglottitis and meningitis due to Haemophilus influenzae type b (Hib) after vaccination against Hib was introduced in Switzerland in 1990. This success was possible because of routine vaccination. Immunization is a save procedure and adverse events are much lower than complications in the natural course of the prevented diseases. However vaccinations were accused to cause diseases themselves such as asthma, multiple sclerosis, diabetes mellitus, chronic arthritis or autism. Hitherto no large cohort study or case-control-study was able to proof responsibility of vaccines in any of these diseases. Public media are eager to publish early data from surveillance reports or case reports which are descriptive and never a principle of cause and effect. In large controlled trials there was no proof that vaccination causes asthma, hepatitis-B-vaccination causes multiple sclerosis or macrophagic myofasciitis, Hib-vaccination causes diabetes mellitus, rubella-vaccination causes chronic arthritis, measles-mumps-rubella-vaccination causes gait disturbance or thiomersal causes autism. These results are rarely published in newspapers or television. Thus, many caring parents are left with negative ideas about immunization. Looking for the best for their children they withhold vaccination and give way to resurgence of preventable diseases in our communities. This must be prevented. There is more evidence than expected that vaccination is safe and this can and must be told to parents.

  5. Loosely coupled class families

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

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

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

    Science.gov (United States)

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

    1975-08-01

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

  7. Causes And Effects Of Fast Food

    Directory of Open Access Journals (Sweden)

    Eman Al-Saad

    2015-08-01

    Full Text Available Fast food affects our life in many aspects. In fact There are many reasons that have been shown why people continuing eating fast food while they knew about its negative effects on their health and family because of eating fast food. The commercial advertisements play a major role in consuming fast food. In this research I will focus on causes and effects of eating fast food.

  8. Causes And Effects Of Fast Food

    OpenAIRE

    Eman Al-Saad

    2015-01-01

    Fast food affects our life in many aspects. In fact There are many reasons that have been shown why people continuing eating fast food while they knew about its negative effects on their health and family because of eating fast food. The commercial advertisements play a major role in consuming fast food. In this research I will focus on causes and effects of eating fast food.

  9. Familial Mediterranean fever

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000363.htm Familial Mediterranean fever To use the sharing features on this page, please enable JavaScript. Familial Mediterranean fever (FMF) is a rare disorder passed down ...

  10. Family Caregiver Alliance

    Science.gov (United States)

    ... on your schedule. Look for our launch soon! FAMILY CARE NAVIGATOR ─ Click on Your State AL AK ... AiA18 Smart Patients Caregivers Community In partnership with Family Caregiver Alliance Learn more Caregiver Research Studies show ...

  11. Family characteristics and adaptation in families with adolescents

    OpenAIRE

    Miller-Bruce, Andrea E.

    1988-01-01

    Family characteristics, and their typologies were examined in relationship to family adaptation in 97 nonclinical families with adolescents. Cohesion, adaptability, and satisfaction were measured by Family Adaptability and Cohesion Evaluation Scales III. Quantity of family time and routines and value of family time and routines were assessed using an adapted version of the Family Time and Routines Index. The dependent variable, family adaptation, was obtained using the Family M...

  12. Family Obligations in Denmark

    DEFF Research Database (Denmark)

    Koch-Nielsen, Inger

    How is the balance in obligations between the Family and the Danish Welfare State? Can we observe a trend to shift the responsibility back to the family? This booklet intends to sketch the legal framework around the division of responsibilities between the Family and the state and to analyse...... to what extent and where the unit of rights and obliagations is the individual and where it is the family or household....

  13. Genetic causes of bronchiectasis.

    Science.gov (United States)

    Gould, Christine M; Freeman, Alexandra F; Olivier, Kenneth N

    2012-06-01

    Our understanding of the pathologic cycle leading to the development of bronchiectasis is enhanced by greater understanding of the genetic influences contributing to its development. Genome-wide linkage analysis, family-based genetic linkage studies, and the testing of candidate genes have all greatly advanced our understanding of the complexity of the genetic basis of bronchiectasis. This article discusses how allelic variations, gene modifiers, HLA associations, and the interplay of developmental, host, and environmental factors all contribute in lesser and greater degrees, depending on the specific disease, toward the development of bronchiectasis in a spectrum of disease processes. Published by Elsevier Inc.

  14. Causes of eating disorders.

    Science.gov (United States)

    Polivy, Janet; Herman, C Peter

    2002-01-01

    Anorexia nervosa and bulimia nervosa have emerged as the predominant eating disorders. We review the recent research evidence pertaining to the development of these disorders, including sociocultural factors (e.g., media and peer influences), family factors (e.g., enmeshment and criticism), negative affect, low self-esteem, and body dissatisfaction. Also reviewed are cognitive and biological aspects of eating disorders. Some contributory factors appear to be necessary for the appearance of eating disorders, but none is sufficient. Eating disorders may represent a way of coping with problems of identity and personal control.

  15. Prevalence and causes of low vision among schoolchildren in ...

    African Journals Online (AJOL)

    Low vision is a major cause of morbidity and has profound effects on the quality of life for many people as it inhibits/reduces mobility and economical well being of the affected individuals and their families. The objective of the study was to determine the magnitude and causes of low vision among primary school children in ...

  16. Champions of a cause

    Energy Technology Data Exchange (ETDEWEB)

    McChesney, S.

    1995-03-01

    As customer choice becomes more and more of an issue, utilities are looking at ways to differentiate their company and service. This article describes one tactic - cause-related marketing - for building customer loyalty to the utility brand. As utilities focus on marketing and are less able to justify short-term philanthropy, cause-related marketing may help them at once meet a social need and create competitive advantage. It may even help break down the organizational boundaries that inhibit the communication, flexibility, and creativity needed to succeed in a competitive market. Successful utilities likely will have service packages that are customized for different groups of customers. One or several of those groups, for example, may respond particularly to the utility`s attitude to the community or a particular cause.

  17. Rape: A Family Crisis.

    Science.gov (United States)

    Feinauer, Leslie

    1982-01-01

    Suggests that, although a young woman who has been sexually assaulted may experience pain and alienation as an individual, family members also experience trauma, often left unresolved while retaining an impact on the family's ability to function. Introduces family therapy as a desirable approach to treatment of the rape victim. (Author/JAC)

  18. Families and Assisted Living

    Science.gov (United States)

    Gaugler, Joseph E.; Kane, Robert L.

    2007-01-01

    Purpose: Despite growing research on assisted living (AL) as a residential care option for older adults, the social ramifications of residents' transitions to AL are relatively unexplored. This article examines family involvement in AL, including family structures of residents, types of involvement from family members living outside the AL…

  19. The Family and Hierarchy.

    Science.gov (United States)

    Nock, Steven L.

    1988-01-01

    Cites literature supporting view that as adults, children from single-parent families have less success in school, lower earnings, and lower occupational prestige than children from intact, two-parent families. Proposes that one reason why children from one-parent families achieve less as adults is that they lack exposure to hierarchical models of…

  20. National Military Family Association

    Science.gov (United States)

    ... Take Action Volunteer Mark Your Calendar Donate Twitter Facebook Instagram Donate Appreciating Military Families: Meet the Wilsons This ... MilitaryFamily.org © 2017 - National Military Family Association Twitter Facebook Pinterest Instagram Charity Navigator Four Star Charity GuideStar Exchange Better ...

  1. 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...

  2. Year of the Family.

    Science.gov (United States)

    California Agriculture, 1994

    1994-01-01

    This special issue focuses on problems and challenges confronting the California family and on research and extension efforts to provide at least partial answers. Research briefs by staff include "Challenges Confront the California Family" (state trends in poverty, divorce, single-parent families, child abuse, delinquency, teen births,…

  3. Rethinking Family Power.

    Science.gov (United States)

    Kranichfeld, Marion L.

    1987-01-01

    Men's power is emphasized in the family power literature on marital decision making. Little attention has been paid to women's power, accrued through their deeper embeddedness in intrafamilial roles. Micro-level analysis of family power demonstrates that women's positions in the family power structure rest not on the horizontal marital tie but…

  4. Religion and the Family.

    Science.gov (United States)

    Thomas, Darwin L., Ed.

    1985-01-01

    Examines religion's place in the social sciences, reciprocal influences of family and religion, cohesion/polarization in American Catholic families, religion in Middletown, USA, gender and religion in Canadian and American students, domestic/religious individualism and suicide, and the New Christian Right's view of the family. (BH)

  5. Familial Disease Is Not Always Genetic : A Family With Atrioventricular Block and Mitral Regurgitation

    NARCIS (Netherlands)

    Vermeer, Alexa M.; Lodder, Elisabeth M.; Christiaans, Imke; van Langen, Irene M.; Wilde, Arthur A.; Bezzina, Connie R.; Tadros, Rafik

    We present a family from a founder population referred for cardiogenetic evaluation for atrioventricular block in 3 siblings. Genetic testing, including whole-exome sequencing, did not identify a disease-causing mutation. After reconsidering the differential diagnosis, a nongenetic cause was

  6. Familial Aggregation of Hyperemesis Gravidarum

    Science.gov (United States)

    Zhang, Yafeng; Cantor, Rita M.; Macgibbon, Kimber; Romero, Roberto; Goodwin, Thomas M.; Mullin, Patrick; Fejzo, Marlena S.

    2010-01-01

    Objective This study was undertaken to determine whether there is familial aggregation of Hyperemesis Gravidarum making it a disease amenable to genetic study. Study Design Cases with severe nausea and vomiting in a singleton pregnancy treated with intravenous hydration and unaffected friend controls completed a survey regarding family history. Results Sisters of women with Hyperemesis Gravidarum have a significantly increased risk of having Hyperemesis Gravidarum themselves (OR=17.3, p=0.005). Cases have a significantly increased risk of having a mother with severe nausea and vomiting; 33% of cases reported an affected mother compared to 7.7% of controls (pHyperemesis Gravidarum. This study provides strong evidence for a genetic component to hyperemesis gravidarum. Identification of the predisposing gene(s) may determine the cause of this poorly understood disease of pregnancy. PMID:20974461

  7. 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.

  8. Management of Melanoma Families

    Directory of Open Access Journals (Sweden)

    Wilma Bergman

    2010-04-01

    Full Text Available In this review we have aimed to focus on the clinical management of familial melanoma patients and their relatives. Along this line three major topics will be discussed: (1 management/screening of familial melanoma families: what is advised and what is the evidence thereof; (2 variability of families worldwide with regard to clinical phenotype, including cancer spectrum and likelihood of finding germline mutations and (3 background information for clinicians on the molecular biology of familial melanoma and recent developments in this field.

  9. EAMJ March -Causes

    African Journals Online (AJOL)

    iMac User

    2008-03-01

    Mar 1, 2008 ... Ireland and Qatar (4,5). However, Larsen et al in a study in The Netherlands and Denmark described the peak of injury to be in teenagers (6). These were largely due to recreational causes. This difference could be attributed to presence of less work place- related injuries which usually occur among older.

  10. Landslides - Cause and effect

    Science.gov (United States)

    Radbruch-Hall, D. H.; Varnes, D.J.

    1976-01-01

    Landslides can cause seismic disturbances; landslides can also result from seismic disturbances, and earthquake-induced slides have caused loss of life in many countries. Slides can cause disastrous flooding, particularly when landslide dams across streams are breached, and flooding may trigger slides. Slope movement in general is a major process of the geologic environment that places constraints on engineering development. In order to understand and foresee both the causes and effects of slope movement, studies must be made on a regional scale, at individual sites, and in the laboratory. Areal studies - some embracing entire countries - have shown that certain geologic conditions on slopes facilitate landsliding; these conditions include intensely sheared rocks; poorly consolidated, fine-grained clastic rocks; hard fractured rocks underlain by less resistant rocks; or loose accumulations of fine-grained surface debris. Field investigations as well as mathematical- and physical-model studies are increasing our understanding of the mechanism of slope movement in fractured rock, and assist in arriving at practical solutions to landslide problems related to all kinds of land development for human use. Progressive failure of slopes has been studied in both soil and rock mechanics. New procedures have been developed to evaluate earthquake response of embankments and slopes. The finite element method of analysis is being extensively used in the calculation of slope stability in rock broken by joints, faults, and other discontinuities. ?? 1976 International Association of Engineering Geology.

  11. Infestation caused by acanthocephala

    Directory of Open Access Journals (Sweden)

    Daniele Crotti

    2009-03-01

    Full Text Available An on-line case of infestation caused by M. moniliformis is descripted. This rodents’ worm, belonging to acanthocephala, can be rarely responsible of human intestinal pathology. The case is the pretext for a brief revision on this parasitosis. So, biological, epidemiological, clinical and diagnostical findings are reported.

  12. Does intuition cause cooperation?

    NARCIS (Netherlands)

    P.P.J.L. Verkoeijen (Peter); S. Bouwmeester (Samantha)

    2014-01-01

    textabstractRecently, researchers claimed that people are intuitively inclined to cooperate with reflection causing them to behave selfishly. Empirical support for this claim came from experiments using a 4-player public goods game with a marginal return of 0.5 showing that people contributed more

  13. Fighting a lost cause

    NARCIS (Netherlands)

    Mario Haaf

    2015-01-01

    This essay claims that the declared war on drugs has failed, it has caused more harm than good, and that a new approach is necessary. The focus of analysis lays especially on the implemented drug policies of Mexico and the United States. The goal is to point out the flaws of the current policy based

  14. Reproductive causes of hypocalcemia.

    Science.gov (United States)

    Davidson, Autumn P

    2012-11-01

    Reproductive causes of hypocalcemia include puerperal tetany (eclampsia) and mild hypocalcemia during whelping. This article reviews the pathophysiology, signalment, clinical signs, and treatment of eclampsia in the bitch and queen. The second part of the article focuses on the consequences and treatment of hypocalcemia prior to and during whelping in dogs and cats. Copyright © 2012 Elsevier Inc. All rights reserved.

  15. Aliteracy : causes and solutions

    NARCIS (Netherlands)

    Nielen, Thijs Martinus Johannes

    2016-01-01

    The reading motivation of the majority of students declines in the upper half of primary school, which implies a risk for aliteracy: Students can read but, due to lack of practice, their skills remain underdeveloped (Chapter 2). In this thesis we have explored causes and solutions for this important

  16. Inside the Family Firm

    DEFF Research Database (Denmark)

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

    2005-01-01

    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......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...... then analyze the impact of family successions on performance. We overcome endogeneity and omitted variables problems of previous papers in the literature by using the gender of a departing CEO's first-born child as an instrumental variable (IV) for family successions. This is a plausible IV as male first...

  17. Multiplex families with epilepsy

    Science.gov (United States)

    Afawi, Zaid; Oliver, Karen L.; Kivity, Sara; Mazarib, Aziz; Blatt, Ilan; Neufeld, Miriam Y.; Helbig, Katherine L.; Goldberg-Stern, Hadassa; Misk, Adel J.; Straussberg, Rachel; Walid, Simri; Mahajnah, Muhammad; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Kahana, Esther; Masalha, Rafik; Kramer, Uri; Ekstein, Dana; Shorer, Zamir; Wallace, Robyn H.; Mangelsdorf, Marie; MacPherson, James N.; Carvill, Gemma L.; Mefford, Heather C.; Jackson, Graeme D.; Scheffer, Ingrid E.; Bahlo, Melanie; Gecz, Jozef; Heron, Sarah E.; Corbett, Mark; Mulley, John C.; Dibbens, Leanne M.; Korczyn, Amos D.

    2016-01-01

    Objective: To analyze the clinical syndromes and inheritance patterns of multiplex families with epilepsy toward the ultimate aim of uncovering the underlying molecular genetic basis. Methods: Following the referral of families with 2 or more relatives with epilepsy, individuals were classified into epilepsy syndromes. Families were classified into syndromes where at least 2 family members had a specific diagnosis. Pedigrees were analyzed and molecular genetic studies were performed as appropriate. Results: A total of 211 families were ascertained over an 11-year period in Israel. A total of 169 were classified into broad familial epilepsy syndrome groups: 61 generalized, 22 focal, 24 febrile seizure syndromes, 33 special syndromes, and 29 mixed. A total of 42 families remained unclassified. Pathogenic variants were identified in 49/211 families (23%). The majority were found in established epilepsy genes (e.g., SCN1A, KCNQ2, CSTB), but in 11 families, this cohort contributed to the initial discovery (e.g., KCNT1, PCDH19, TBC1D24). We expand the phenotypic spectrum of established epilepsy genes by reporting a familial LAMC3 homozygous variant, where the predominant phenotype was epilepsy with myoclonic-atonic seizures, and a pathogenic SCN1A variant in a family where in 5 siblings the phenotype was broadly consistent with Dravet syndrome, a disorder that usually occurs sporadically. Conclusion: A total of 80% of families were successfully classified, with pathogenic variants identified in 23%. The successful characterization of familial electroclinical and inheritance patterns has highlighted the value of studying multiplex families and their contribution towards uncovering the genetic basis of the epilepsies. PMID:26802095

  18. Rebels with a Cause

    DEFF Research Database (Denmark)

    Jones, Candace; Maoret, Massimo; Massa, Felipe G.

    2012-01-01

    codes for a building based on institutional logics associated with their specific mix of clients. “Modern architects” fought over what logics and artifact codes should guide “modern architecture.” Modern functional architects espoused a logic of commerce enacted through a restricted artifact code of new...... of both logics and materials in buildings, expanding the category boundary. Plural logics and category expansion resulted in multiple conflicting exemplars within “modern architecture” and enabled its adaptation to changing social forces and architectural interpretations for over 70 years....... novo category “modern architecture” between 1870 and 1975. Our study shows that the process of new category formation was driven by groups of architects with distinct clientele associated with institutional logics of commerce, state, religion, and family. These architects enacted different artifact...

  19. A Retrospective Study of Clinical and Mutational Findings in 45 Danish Families with Ectodermal Dysplasia

    DEFF Research Database (Denmark)

    Svendsen, Mathias Tiedemann; Henningsen, Emil; Hertz, Jens Michael

    2014-01-01

    covering 17 different diagnoses. Forty-five families were identified of which 26 were sporadic cases with no affected family members. In 27 tested families a disease-causing mutation was identified in 23 families. Eleven mutations were novel mutations. To our knowledge, we present the first large...

  20. Montessori Early Childhood Teacher Perceptions of Family Priorities and Stressors

    Directory of Open Access Journals (Sweden)

    Ann Epstein

    2015-11-01

    Full Text Available Teachers of young children work closely with families. One component of teacher-family partnerships is teachers’ understanding of family priorities and stressors. This study examines Montessori early childhood (ages three through six teacher perceptions of family priorities and stressors through an analysis of responses to two parallel surveys.  Eighty teachers (37% of those who received the survey and forty-nine family members (representing a 55% response rate completed the survey.  Significant differences were found between teachers’ perceptions of four (of seven family priorities and families’ actual responses. Teachers ranked “making academic progress” as the most important of seven possible family priorities. However, families stated that “developing kindness” is the most important priority for their young children. No significant differences were found when comparing teacher rankings of family stressors with actual family responses. Montessori early childhood teachers ranked “not having enough time” as the most stressful of six possible stressors. Families confirmed that time pressures cause them the most stress. Maria Montessori’s recommendations for teachers and families are summarized. Recommendations for building stronger family partnerships in the context of Montessori’s philosophy, for example on-going self-reflection, are provided.             Keywords: Montessori, teacher-family partnerships, early childhood teacher perceptions