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Sample records for causing familial hemiplegic

  1. 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

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

    DEFF Research Database (Denmark)

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

    2008-01-01

    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...

  3. 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....

  4. 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....

  5. Genetics Home Reference: familial hemiplegic migraine

    Science.gov (United States)

    ... features of an aura can include difficulty with speech, confusion, and drowsiness. An aura typically develops gradually over a few minutes and lasts about an hour. Unusually severe migraine episodes have been reported in some people with familial hemiplegic migraine . These ...

  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. Serial MRI in a case of familial hemiplegic migraine

    Energy Technology Data Exchange (ETDEWEB)

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

    2003-05-01

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

  9. 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

    Familial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with motor aura. We present a case report of a father and son with very similar attacks of hemiplegic migraine and recurrent episodes of accompanying psychoses. Previously, such episodes led to hospitalization...... 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...

  10. 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

  11. 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

  12. Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19.DMG RG.

    Science.gov (United States)

    Terwindt, G M; Ophoff, R A; Haan, J; Frants, R R; Ferrari, M D

    1996-05-01

    We compared the clinical characteristics of 46 patients from three unrelated families with familial hemiplegic migraine (FHM) linked to chromosome 19, with those of 20 patients from two families with FHM not linked to chromosome 19. We found no significant differences for age at onset, frequency and duration of attacks, duration of the paresis, and occurrence of basilar migraine symptoms. In the linked families, significantly more patients reported unconsciousness during attacks (39% vs 15%; p < 0.05) and provocation of attacks by mild head trauma (70% vs 40%; p < 0.05). In one linked family patients also displayed chronic progressive cerebellar ataxia, whereas in one unlinked family benign infantile convulsions occurred in addition to FHM. Interestingly, so far an association with cerebellar ataxia was only described in chromosome 19-linked families. FHM linked to chromosome 19 and FHM unlinked to chromosome 19 do not differ with respect to clinical features.

  13. 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.

  14. 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.

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

    DEFF Research Database (Denmark)

    Bøttger, Pernille; Pedersen, Simon Glerup; 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...

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

    DEFF Research Database (Denmark)

    Bøttger, Pernille; Pedersen, Simon Glerup; 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...... sex hormone cycle and the glutamate system and a link to co-morbid psychiatric manifestations of FHM2....

  17. 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...... the patients developed transient motor and/or sensory deficits and subsequently severe headache. No signs of arterial occlusion were found. In the over and underperfused regions blood flow fluctuated rapidly because of instability of cerebrovascular tone, defined as transient constriction of the smallest...

  18. MRI findings in the painful hemiplegic shoulder

    International Nuclear Information System (INIS)

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

    2010-01-01

    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.

  19. 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.

  20. Genetics Home Reference: sporadic hemiplegic migraine

    Science.gov (United States)

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

  1. Hemiplegic shoulder pain: implications for occupational therapy treatment.

    Science.gov (United States)

    Gilmore, Paula E; Spaulding, Sandi J; Vandervoort, Anthony A

    2004-02-01

    Hemiplegic shoulder pain is common after stroke causing hemiplegia. It adversely affects the recovery of arm function and independence in activities of daily living. Subluxation, abnormal tone and limited range of motion or capsular constrictions have been reported as potential causes. Other factors such as rotator cuff tears, brachial plexus injury, shoulder-hand syndrome and other pre-existing pathological conditions may also be associated with hemiplegic shoulder pain. The etiology remains unclear, but hemiplegic shoulder pain may result from a combination of the above factors. This literature review examines the possible causes of hemiplegic shoulder pain and discusses the implications for occupational therapy treatment. Occupational therapy interventions include proper positioning, facilitation of movement through purposeful therapeutic activities, increasing passive range of motion, implementation of external supports and treatment of shoulder-hand syndrome. Understanding the processes involved will assist with effective assessment, treatment and prevention of hemiplegic shoulder pain. This will facilitate clients' participation in rehabilitation programs and move them towards attainment of optimal function.

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

    African Journals Online (AJOL)

    1995-05-05

    May 5, 1995 ... 3. eaudet . New. Recurrent LDL-receptor mutation causes familial hypercholesterolaemia in ... amplification refractory mutation system (ARMS)" and single- strand conformation .... Location. Afrikaner. Mixed race. ApaLl.

  3. 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.......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...

  4. Peculiarities of Hemiplegic Migraine in Children

    Directory of Open Access Journals (Sweden)

    S. L. Moiseeva

    2015-01-01

    Full Text Available The article describes the individual peculiarities of a rare disease — hemiplegic migraine — in 3 patients (two girls aged 2 and 14 years old and a boy of 16 years. In common clinical aspect there was a correlation between the migraine-attack and the slight head trauma in all patients. Attack symptoms were almost identical: hemiparesis, aphasia, ataxia. The family history for migraine was burdened in both girls. A genetic testing in the boy and in the smallest girl demonstrated CACNA1A gene mutation, in the teen girl — ATP1A2 gene mutation. The electroencephalograms in all patients during the acute phase presented signs of hemipcortical brain dysfunction. The magnetic resonance imaging revealed prominent but reversible hemicortical oedema. The repeated MRI studies diagnosed nonrelevant for this disease hemicortical atrophy (girl 2 years and atrophy of the cerebellum (the boy. Due to the rarity of the disease so far there are no clear guidelines for its treatment and prevention. In view of the pathogenesis for the prevention patients were prescribed medications changing the activity of cytoplasmic calcium and sodium canals.

  5. 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

  6. 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…

  7. 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.)

  8. 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.)

  9. 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

  10. 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.

  11. Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family.

    Science.gov (United States)

    Chiang, Huei-Hsin; Rosvall, Lina; Brohede, Jesper; Axelman, Karin; Björk, Behnosh F; Nennesmo, Inger; Robins, Tiina; Graff, Caroline

    2008-11-01

    Frontotemporal dementia (FTD) is a neurodegenerative disease characterized by cognitive impairment, language dysfunction, and/or changes in personality. Recently it has been shown that progranulin (GRN) mutations can cause FTD as well as other neurodegenerative phenotypes. DNA from 30 family members, of whom seven were diagnosed with FTD, in the Karolinska family was available for GRN sequencing. Fibroblast cell mRNA from one affected family member and six control individuals was available for relative quantitative real-time polymerase chain reaction to investigate the effect of the mutation. Furthermore, the cDNA of an affected individual was sequenced. Clinical and neuropathologic findings of a previously undescribed family branch are presented. A frameshift mutation in GRN (g.102delC) was detected in all affected family members and absent in four unaffected family members older than 70 years. Real-time polymerase chain reaction data showed an approximately 50% reduction of GRN fibroblast mRNA in an affected individual. The mutated mRNA transcripts were undetectable by cDNA sequencing. Segregation and RNA analyses showed that the g.102delC mutation, previously reported, causes FTD in the Karolinska family. Our findings add further support to the significance of GRN in FTD etiology and the presence of modifying genes, which emphasize the need for further studies into the mechanisms of clinical heterogeneity. However, the results already call for attention to the complexity of predictive genetic testing of GRN mutations.

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

    Science.gov (United States)

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

    2015-01-01

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

  13. 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

  14. KITLG Mutations Cause Familial Progressive Hyper- and Hypopigmentation

    DEFF Research Database (Denmark)

    Amyere, Mustapha; Vogt, Thomas; Hoo, Joe

    2011-01-01

    by familial café-au-lait spots and skin fold freckling, caused by mutations in SPRED1. We performed a genome-wide linkage analysis in seven families with FPHH, and identified linkage on 12q21.12-q22, which overlaps with the DUH2 locus. We investigated whether KITLG in the locus is mutated in FPHH. We......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......-strand in KITLG, suggesting its important role in the activation of the KITLG receptor c-Kit. In aggregate, mutations in a single gene cause various pigmentation disorders: FPH, FPHH, and likely DUH2. Therefore, KITLG is an important modulator of skin pigmentation.Journal of Investigative Dermatology advance...

  15. 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,

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

    Science.gov (United States)

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

    2016-08-15

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

  17. A novel MKRN3 missense mutation causing familial precocious puberty.

    Science.gov (United States)

    de Vries, L; Gat-Yablonski, G; Dror, N; Singer, A; Phillip, M

    2014-12-01

    Central precocious puberty may be familial in about a quarter of the idiopathic cases. However, little is known about the genetic causes responsible for the disorder. In this report we describe a family with central precocious puberty associated with a mutation in the makorin RING-finger protein 3 (MKRN3) gene. A novel missense mutation (p.H420Q) in the imprinted MKRN3 gene was identified in the four affected siblings, in their unaffected father and in his affected mother. An in silico mutant MKRN3 model predicts that the mutation p.H420Q leads to reduced zinc binding and, subsequently, impaired RNA binding. These findings support the fundamental role of the MKRN3 protein in determining pubertal timing. © The Author 2014. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  18. Hot-spot KIF5A mutations cause familial ALS.

    Science.gov (United States)

    Brenner, David; 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; Sendtner, Michael; 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

    2018-01-12

    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 allele

  19. 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

  20. 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.)

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-12-15

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

  2. 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.

  3. Is hemiplegic cerebral palsy equivalent to amblyopia of the corticospinal system?

    Science.gov (United States)

    Eyre, Janet A; Smith, Martin; Dabydeen, Lyvia; Clowry, Gavin J; Petacchi, Eliza; Battini, Roberta; Guzzetta, Andrea; Cioni, Giovanni

    2007-11-01

    Subjects with severe hemiplegic cerebral palsy have increased ipsilateral corticospinal projections from their noninfarcted cortex. We investigated whether their severe impairment might, in part, be caused by activity-dependent, competitive displacement of surviving contralateral corticospinal projections from the affected cortex by more active ipsilateral corticospinal projections from the nonaffected cortex, thereby compounding the impairment. Transcranial magnetic stimulation (TMS) characterized corticospinal tract development from each hemisphere over the first 2 years in 32 healthy children, 14 children with unilateral stroke, and 25 with bilateral lesions. Magnetic resonance imaging and anatomic studies compared corticospinal tract growth in 13 patients with perinatal stroke with 46 healthy subjects. Infants with unilateral lesions initially had responses after TMS of the affected cortex, which became progressively more abnormal, and seven were eventually lost. There was associated hypertrophy of the ipsilateral corticospinal axons projecting from the noninfarcted cortex. Magnetic resonance imaging and anatomic studies demonstrated hypertrophy of the corticospinal tract from the noninfarcted hemisphere. TMS findings soon after the stroke did not predict impairment; subsequent loss of responses and hypertrophy of ipsilateral corticospinal axons from the noninfarcted cortex predicted severe impairment at 2 years. Infants with bilateral lesions maintained responses to TMS from both hemispheres with a normal pattern of development. Rather than representing "reparative plasticity," increased ipsilateral projections from the noninfarcted cortex compound disability by competitively displacing surviving contralateral corticospinal projections from the infarcted cortex. This may provide a pathophysiological explanation for why signs of hemiplegic cerebral palsy appear late and progress over the first 2 years of life.

  4. Diagnosis and treatment of the hemiplegic patient with brachial plexus injury.

    Science.gov (United States)

    Meredith, J; Taft, G; Kaplan, P

    1981-10-01

    Brachial plexus injury was observed as a complication in 5 of 12 hemiplegic patients admitted over a 5-week period to an inpatient unit of the Rehabilitation Institute of Chicago. These patients exhibited unusual patterns of muscle atrophy and return of function in the impaired upper extremity. Occupational therapists may play an important part in the diagnosis and treatment of this complication of hemiplegia by promptly recognizing its subtle clinical signs and instituting appropriate therapy. Electromyography may be recommended to confirm this diagnosis. The treatment of choice is to maintain correct positioning of the limb both day and night, to use facilitation techniques for specific muscles in order to prevent atrophy, and to maintain passive range of motion as much as possible. Prevention of brachial plexus injury depends largely on the education of patient, family, and staff as to the potential hazards to a frail extremity that has no protective responses.

  5. Dual mobility total hip arthroplasty in hemiplegic patients

    Directory of Open Access Journals (Sweden)

    Henawy Ayman T.

    2017-01-01

    Full Text Available Introduction: The rate of cerebrovascular insults is increasing, currently leaving many patients with difficulties to maintain their balance due to muscular weakness and/or poor central control. Those patients are at risk of dislocation when total hip arthroplasty (THA is planned. Instability remains the most significant issue after primary THA especially in such groups of patients. The risk is more pronounced when other factors are added such as, older age, femoral neck fractures, avascular necrosis and/or hip osteoarthritis. Dual mobility cup (DMC is considered as a prosthesis with higher inherent stability that may help in such situation. In this patient series, we aimed to evaluate stability, clinical and radiological results of dual mobility THA done on the weak limb of hemiplegic patients. Methods: Twenty-four consecutive hemiplegic patients have undergone DMC with a mean age of 68 years. The indication for surgery was hip osteoarthritis in one third of the patients and femoral neck fractures in the remaining patients. Those patients were capable of walking prior to hospital admission despite weakness. Those patients were observed postoperatively for at least one year. Clinical results and complications were recorded. Results: After a minimum of one year, 91.6% of the patients have satisfactory results. No cases of hip or intraprosthetic dislocation were observed. Discussion: Dual mobility THA in the hemiplegic patients provides both efficacy and stability with good functional results.

  6. 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.

  7. 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...

  8. [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.

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

    DEFF Research Database (Denmark)

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

    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...

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

    DEFF Research Database (Denmark)

    Pedersen, Carsten Bøcker; Mortensen, Preben Bo

    2006-01-01

    Many studies have identified urban-rural differences in schizophrenia risk. Hypothetical underlying cause(s) may include toxic exposures, diet, infections, and selective migration. The authors investigated whether the underlying cause(s) responsible for the urban-rural differences were rooted...... 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....... Some of the cause(s) responsible for the urban-rural differences in schizophrenia risk are rooted in families, but some might also be rooted in individuals....

  11. MAFA missense mutation causes familial insulinomatosis and diabetes mellitus

    NARCIS (Netherlands)

    Iacovazzo, D. (Donato); Flanagan, S.E. (Sarah E.); Walker, E. (Emily); Quezado, R. (Rosana); De Sousa Barros, F.A. (Fernando Antonio); Caswell, R. (Richard); Johnson, M.B. (Matthew B.); Wakeling, M. (Matthew); Brändle, M. (Michael); Guo, M. (Min); Dang, M.N. (Mary N.); Gabrovska, P. (Plamena); B. Niederle (Bruno); E. Christ (Emanuel); Jenni, S. (Stefan); Sipos, B. (Bence); Nieser, M. (Maike); A. Frilling (Andrea); Dhatariya, K. (Ketan); P. Chanson (Philippe); W.W. de Herder (Wouter); Konukiewitz, B. (Björn); Klöppel, G. (Günter); Stein, R. (Roland); M. Korbonits; S. Ellard (Sian)

    2018-01-01

    textabstractThe β-cell–enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants have been previously described. We investigated a large pedigree

  12. 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.

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

    Science.gov (United States)

    Levin, Kate A; Kirby, Joanna

    2012-08-01

    Data from the 2002, 2006 and 2010 Scottish Health Behaviour in School-aged Children (HBSC) surveys were analysed using logistic multilevel regression for outcome variable irregular breakfast consumption (IBC). IBC prevalence in Scotland was higher among young people from reconstituted and single parent families, and particularly single father families. Family characteristics, found previously to be associated with breakfast consumption, such as number of siblings, perceived parenting, parental involvement and family affluence, differed by family structure. Family structure inequalities in IBC existed, also after adjustment for year and child's sex, age, grade and ethnicity. Across all family structures, IBC was more prevalent at the older age groups, among those who had difficult communication with their parents, and where household routines were infrequent. Greater number of siblings and lower family affluence were associated with higher odds of IBC in single mother and both parent families, while having a second home was associated with higher odds in reconstituted households. Fair parenting and being close to at least one parent was associated with reduced odds of IBC in single mother households, while being close to all parents was in single father households. In single mother homes, having a working mother was also positively associated with IBC. Family structure differences should be considered when addressing irregular breakfast consumption in adolescence. Copyright © 2012 Elsevier Ltd. All rights reserved.

  14. 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.

  15. 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.

  16. 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

  17. 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

  18. Prevention and management of shoulder pain in the hemiplegic patient.

    Science.gov (United States)

    Page, Tamara; Lockwood, Craig

    The objective of this review was to summarise the best available research related to the prevention and management of shoulder pain in the hemiplegic patient. This review considered all studies that included hemiplegic patients post-cerebral vascular accident (CVA). Interventions of interest were any treatments or programs used to manage or prevent shoulder pain secondary to hemiplegia. The primary outcomes of interest were those related to pain. This review considered any randomised controlled trials (RCT) that evaluated the effectiveness of interventions that addressed shoulder pain in hemiplegic patients. In the absence of RCT, other research designs such as non-randomised controlled trials, time series and case series were also considered for inclusion in a narrative summary. The search sought to find both published and unpublished studies. Databases were searched up to February 2002 and included Medline, CINAHL, Current Contents, Cochrane Library, Expanded Academic Index, Electronic Collections Online, Turning Research Into Practice (TRIP), Dissertation Abstracts and Proceedings First. The reference lists of all studies identified were searched for additional studies. All studies were checked for methodological quality by two reviewers and data was extracted using a data extraction tool. Current research evaluating the effectiveness of treatment interventions on hemiplegic shoulder pain is very limited. The studies were very diverse in their nature of research. There has been no replication of studies, with the studies found using different populations, interventions or outcome measures. Not one study could be compared with another. Meta-analysis was unable to be performed not only because of inadequate reporting of results, but more often due to differences between the studies' participants and the range of interventions used. The diversity in interval post-CVA also makes it difficult to make any comparisons between studies. For this reason the review is in

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

    NARCIS (Netherlands)

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

    2011-01-01

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

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

    NARCIS (Netherlands)

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

    2011-01-01

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

  1. Effect of arm cycling on gait of children with hemiplegic cerebral palsy

    African Journals Online (AJOL)

    Zeinab A. Hussein

    2014-06-18

    Jun 18, 2014 ... Pediatrics Department, Faculty of Physical Therapy, Cairo University, Egypt ... Methods: Forty-eight hemiplegic cerebral palsy children participated in this study ... training exercise, while the control group received gait training ...

  2. 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.

  3. 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, ...

  4. High-Performing Families: Causes, Consequences, and Clinical Solutions. The Family Psychology and Counseling Series.

    Science.gov (United States)

    Robinson, Bryan E., Ed.; Chase, Nancy D., Ed.

    This book explores the dilemma of the increasing obsession with work and the resulting imbalances between career and family life. Through theoretical frameworks and case examples it discusses the negative consequences of the societal phenomena of over-work and over-dedication to careers, which have been misdiagnosed or ignored by mental health…

  5. 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

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

    African Journals Online (AJOL)

    Causes of Indiscipline in the Family and Its Effect on the Child. ... Log in or Register to get access to full text downloads. ... revealed causes of indiscipline in the home to include lack of attention/love from parents, poor parent-child relationship, ...

  7. Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant.

    Science.gov (United States)

    Konno, Takuya; Blackburn, Patrick R; Rozen, Todd D; van Gerpen, Jay A; Ross, Owen A; Atwal, Paldeep S; Wszolek, Zbigniew K

    2018-04-11

    To describe a family with primary familial brain calcification (PFBC) due to SLC20A2 variant showing possible genetic anticipation. We conducted historical, genealogical, clinical, and radiologic studies of a family with PFBC. Clinical evaluations including neurological examination and head computed tomography (CT) scans of a proband and her father were performed. They provided additional information regarding other family members. To identify a causative gene variant, we performed whole-exome sequencing for the proband followed by segregation analysis in other affected members using direct sequencing. In this family, nine affected members were identified over four generations. The proband suffered from chronic daily headache including thunderclap headache. We identified an SLC20A2 (c.509delT, p.(Leu170*)) variant in three affected members over three generations. Interestingly, the age of onset became younger as the disease passed through successive generations, suggestive of genetic anticipation. For clinical purpose, it is important to consider thunderclap headache and genetic anticipation in PFBC caused by SLC20A2 variants. Further investigation is required to validate our observation. Copyright © 2018 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  8. 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)

  9. Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding

    DEFF Research Database (Denmark)

    Fager Ferrari, Marcus; Leinoe, Eva; Rossing, Maria

    2018-01-01

    Familial hemophagocytic lymphohistiocytosis (FHL) is caused by biallelic variants in genes regulating granule secretion in cytotoxic lymphocytes. In FHL3-5, the affected genes UNC13D, STX11 and STXBP2 have further been shown to regulate the secretion of platelet granules, giving rise to compromised...

  10. Hepatic steatosis does not cause insulin resistance in people with familial hypobetalipoproteinaemia

    NARCIS (Netherlands)

    Visser, M. E.; Lammers, N. M.; Nederveen, A. J.; van der Graaf, M.; Heerschap, A.; Ackermans, M. T.; Sauerwein, H. P.; Stroes, E. S.; Serlie, M. J.

    2011-01-01

    Hepatic steatosis is strongly associated with hepatic and whole-body insulin resistance. It has proved difficult to determine whether hepatic steatosis itself is a direct cause of insulin resistance. In patients with familial hypobetalipoproteinaemia (FHBL), hepatic steatosis is a direct consequence

  11. Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

    Science.gov (United States)

    Liu, Xiaowen; Tang, Zhaohui; Li, Chang; Yang, Kangjuan; Gan, Guanqi; Zhang, Zibo; Liu, Jingyu; Jiang, Fagang; Wang, Qing; Liu, Mugen

    2010-03-17

    To identify the disease-causing gene in a four-generation Chinese family affected with retinitis pigmentosa (RP). Linkage analysis was performed with a panel of microsatellite markers flanking the candidate genetic loci of RP. These loci included 38 known RP genes. The complete coding region and exon-intron boundaries of Usher syndrome 2A (USH2A) were sequenced with the proband DNA to screen the disease-causing gene mutation. Restriction fragment length polymorphism (RFLP) analysis and direct DNA sequence analysis were done to demonstrate co-segregation of the USH2A mutations with the family disease. One hundred normal controls were used without the mutations. The disease-causing gene in this Chinese family was linked to the USH2A locus on chromosome 1q41. Direct DNA sequence analysis of USH2A identified two novel mutations in the patients: one missense mutation p.G1734R in exon 26 and a splice site mutation, IVS32+1G>A, which was found in the donor site of intron 32 of USH2A. Neither the p.G1734R nor the IVS32+1G>A mutation was found in the unaffected family members or the 100 normal controls. One patient with a homozygous mutation displayed only RP symptoms until now, while three patients with compound heterozygous mutations in the family of study showed both RP and hearing impairment. This study identified two novel mutations: p.G1734R and IVS32+1G>A of USH2A in a four-generation Chinese RP family. In this study, the heterozygous mutation and the homozygous mutation in USH2A may cause Usher syndrome Type II or RP, respectively. These two mutations expand the mutant spectrum of USH2A.

  12. Genetic defect causing familial Alzheimer's disease maps on chromosome 21

    Energy Technology Data Exchange (ETDEWEB)

    St. George-Hyslop, P.H.; Tanzi, R.E.; Polinsky, R.J.; Haines, J.L.; Nee, L.; Watkins, P.C.; Myers, R.H.; Feldman, R.G.; Pollen, D.; Drachman, D.; Growdon, J.

    1987-02-20

    Alzheimer's disease is a leading cause of morbidity and mortality among the elderly. Several families have been described in which Alzheimer's disease is caused by an autosomal dominant gene defect. The chromosomal location of this defective gene has been discovered by using genetic linkage to DNA markers on chromosome 21. The localization on chromosome 21 provides an explanation for the occurrence of Alzheimer's disease-like pathology in Down syndrome. Isolation and characterization of the gene at this locus may yield new insights into the nature of the defect causing familial Alzheimer's disease and possibly, into the etiology of all forms of Alzheimer's disease.

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

    Directory of Open Access Journals (Sweden)

    Rocio Toro

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

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

    OpenAIRE

    Adisa, Toyin Ajibade; Osabutey, Ellis L. C.; Gbadamosi, Gbolahan

    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 ...

  15. Causes of Cancer Death Among First-Degree Relatives in Japanese Families with Lynch Syndrome.

    Science.gov (United States)

    Tanakaya, Kohji; Yamaguchi, Tatsuro; Ishikawa, Hideki; Hinoi, Takao; Furukawa, Yoichi; Hirata, Keiji; Saida, Yoshihisa; Shimokawa, Mototsugu; Arai, Masami; Matsubara, Nagahide; Tomita, Naohiro; Tamura, Kazuo; Sugano, Kokichi; Ishioka, Chikashi; Yoshida, Teruhiko; Ishida, Hideyuki; Watanabe, Toshiaki; Sugihara, Kenichi

    2016-04-01

    To elucidate the causes of cancer death in Japanese families with Lynch syndrome (LS). The distributions of cancer deaths in 485 individuals from 67 families with LS (35, 30, and two families with MutL homologue 1 (MLH1), MSH2, and MSH6 gene mutations, respectively), obtained from the Registry of the Japanese Society for Cancer of the Colon and Rectum were analyzed. Among 98 cancer deaths of first-degree relatives of unknown mutation status, 53%, 19%, 13% (among females), 7% (among females) and 5% were due to colorectal, gastric, uterine, ovarian, and hepatobiliary cancer, respectively. The proportion of deaths from extra-colonic cancer was significantly higher in families with MSH2 mutation than in those with MLH1 mutation (p=0.003). In addition to colonic and uterine cancer, management and surveillance targeting gastric, ovarian and hepatobiliary cancer are considered important for Japanese families with LS. Extra-colonic cancer in families with MSH2 mutation might require for more intensive surveillance. Copyright© 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

  16. 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

  17. Effect of Rhythmic Auditory Stimulation on Hemiplegic Gait Patterns.

    Science.gov (United States)

    Shin, Yoon-Kyum; Chong, Hyun Ju; Kim, Soo Ji; Cho, Sung-Rae

    2015-11-01

    The purpose of our study was to investigate the effect of gait training with rhythmic auditory stimulation (RAS) on both kinematic and temporospatial gait patterns in patients with hemiplegia. Eighteen hemiplegic patients diagnosed with either cerebral palsy or stroke participated in this study. All participants underwent the 4-week gait training with RAS. The treatment was performed for 30 minutes per each session, three sessions per week. RAS was provided with rhythmic beats using a chord progression on a keyboard. Kinematic and temporospatial data were collected and analyzed using a three-dimensional motion analysis system. Gait training with RAS significantly improved both proximal and distal joint kinematic patterns in hip adduction, knee flexion, and ankle plantar flexion, enhancing the gait deviation index (GDI) as well as ameliorating temporal asymmetry of the stance and swing phases in patients with hemiplegia. Stroke patients with previous walking experience demonstrated significant kinematic improvement in knee flexion in mid-swing and ankle dorsiflexion in terminal stance. Among stroke patients, subacute patients showed a significantly increased GDI score compared with chronic patients. In addition, household ambulators showed a significant effect on reducing anterior tilt of the pelvis with an enhanced GDI score, while community ambulators significantly increased knee flexion in mid-swing phase and ankle dorsiflexion in terminal stance phase. Gait training with RAS has beneficial effects on both kinematic and temporospatial patterns in patients with hemiplegia, providing not only clinical implications of locomotor rehabilitation with goal-oriented external feedback using RAS but also differential effects according to ambulatory function.

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

  19. 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…

  20. 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…

  1. 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

  2. A preliminary economic evaluation of percutaneous neuromuscular electrical stimulation in the treatment of hemiplegic shoulder pain

    NARCIS (Netherlands)

    van Til, Janine Astrid; Renzenbrink, Gerbert J.; Groothuis-Oudshoorn, Catharina Gerarda Maria; IJzerman, Maarten Joost

    Objective. The objective of this study was to compare the cost-effectiveness of various treatment modalities for hemiplegic shoulder pain. Design. A stage II economic evaluation. Main outcome measures. Incremental cost effectiveness ratio of P-NMES, compared to slings and anti-inflammatory

  3. 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

  4. De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.

    Science.gov (United States)

    Zarrei, Mehdi; Fehlings, Darcy L; Mawjee, Karizma; Switzer, Lauren; Thiruvahindrapuram, Bhooma; Walker, Susan; Merico, Daniele; Casallo, Guillermo; Uddin, Mohammed; MacDonald, Jeffrey R; Gazzellone, Matthew J; Higginbotham, Edward J; Campbell, Craig; deVeber, Gabrielle; Frid, Pam; Gorter, Jan Willem; Hunt, Carolyn; Kawamura, Anne; Kim, Marie; McCormick, Anna; Mesterman, Ronit; Samdup, Dawa; Marshall, Christian R; Stavropoulos, Dimitri J; Wintle, Richard F; Scherer, Stephen W

    2018-02-01

    PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (<0.1% frequency) that might be relevant to CP. We also sequenced exomes of "CNV-positive" trios.ResultsWe detected de novo CNVs and/or sex chromosome abnormalities in 7/97 (7.2%) of probands, impacting important developmental genes such as GRIK2, LAMA1, DMD, PTPRM, and DIP2C. In 18/97 individuals (18.6%), rare inherited CNVs were found, affecting loci associated with known genomic disorders (17p12, 22q11.21) or involving genes linked to neurodevelopmental disorders.ConclusionWe found an increased rate of de novo CNVs in the hemiplegic CP subtype (7.2%) compared to controls (1%). This result is similar to that for an unselected CP group. Combined with rare inherited CNVs, the genomic data impacts the understanding of the potential etiology of hemiplegic CP in 23/97 (23.7%) of participants.

  5. Comparison of Balance Abilities of Patients with Right and Left Hemiplegics Stroke

    Directory of Open Access Journals (Sweden)

    Alireza Shamsoddini

    2008-01-01

    Full Text Available Objective: Improvement of independence of hemiplegics patient especially in balance maintenance is most significant aim of such rehabilitation. Areas of brain lesions in hemiplegics patient and also function of their right and left brain hemispheres were different. We study balance abilities in this two groups of patients. Materials & Methods: In this comparative and cross sectional study 30 patients with brain stroke were selected with non probability and simple selection in two groups by right hemiplegics (16 objects and left hemiplegics (14 objects. Ranges of Their age were 30 – 58 years and 6 months passed of stroke. The patient balance ability evaluated by Berg Balance Scale (B.B.S and Forward Functional Reach (F.F.R and data were analyzed by use of statistical tests such as: Kolmogorov – Smirnov, Independent T and paired T test. Results: According to results, average difference of two groups in (B.B.S test was significant (P=0.030 but average of score of right group (38/36 was more than left group (28/90. But in (F.F.R test, average difference between two groups wasn’t significant (P=0.841. Conclusion: According to results, balance especially dynamic balance was related to the side of lesion but in static balance, there was no difference between two groups. According to such results, we can consider good rehabilitation program for improvement of balance of such patients.

  6. [Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family].

    Science.gov (United States)

    Qi, Yan-hua; Dang, Xiu-hong; Su, Hong; Zhou, Nan; Liang, Ting; Wang, Zheng; Huang, Shang-zhi

    2010-02-01

    The aim of this study was to identify mutations of CHST6 gene in a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes of MCD. Corneal button of the proband was obtained from penetrating keratoplasty for the treatment of severe corneal dystrophy. The sections and ultrathin sections of this specimen were examined under light microscope and transmission electron microscope (TEM). Genomic DNA was extracted from leukocytes in peripheral blood from the family members. The coding region of CHST6 was amplified by polymerase chain reaction (PCR). The PCR products were analyzed by direct sequencing and restriction enzyme digestion. Histochemical study revealed positive results of colloidal iron stain. TEM revealed enlargement of smooth endoplasmic reticulum and the presence of intracytoplasmic vacuoles. Two mutations, Q298X Y358H, were identified in exon 3 of CHST6. Three patients were compound heterozygotes of these two mutations. The C892T transversion occurred at codon 298 turned the codon of glutamine to a stop codon; the T1072C transversion occurred at codon 358 caused a missense mutation, tyrosine to histidine. All six unaffected family members were heterozygotes. These two mutations were not detected in any of the 100 control subjects. The novel compound heterozygous mutation results in loss of CHST6 function and causes the occurrence of MCD. This is the first report of this gene mutation.

  7. 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.

  8. A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation.

    Science.gov (United States)

    Nishigaki, Satsuki; Hamazaki, Takashi; Fujita, Keinosuke; Morikawa, Shuntaro; Tajima, Toshihiro; Shintaku, Haruo

    2016-12-01

    Hemizygous mutations in the immunoglobulin superfamily member 1 (IGSF1) gene have been demonstrated to cause congenital central hypothyroidism in males. This study reports a family with a novel mutation in the IGSF1 gene located on the long arm of the X chromosome. A two-month-old boy was diagnosed with central hypothyroidism because of prolonged jaundice. A thyrotropin-releasing hormone (TRH) stimulation test indicated dysfunction in both the hypothalamus and the pituitary gland, and prompted the IGSF1 gene to be analyzed. The patient had a novel nonsense variant, c.2713C>T (p.Q905X), in exon 14 of the IGSF1 gene. Studies of the family revealed that the patient's sister and mother were heterozygous carriers of the IGSF1 mutation. The patient's maternal uncle carried the same mutation as the proband but had no overt symptoms. The mother and uncle started levothyroxine supplementation because of subclinical hypothyroidism. A novel mutation (c.2713C>T, p.Q905X) of the IGSF1 gene was identified that causes congenital central hypothyroidism in a Japanese family. The findings further expand the clinical heterogeneity of this entity.

  9. Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.

    Science.gov (United States)

    Chang, Wendy; Winder, Thomas L; LeDuc, Charles A; Simpson, Lynn L; Millar, William S; Dungan, Jeffrey; Ginsberg, Norman; Plaga, Stacey; Moore, Steven A; Chung, Wendy K

    2009-06-01

    Walker-Warburg syndrome (WWS) is a genetically heterogeneous congenital muscular dystrophy caused by abnormal glycosylation of alpha-dystroglycan (alpha-DG) that is associated with brain malformations and eye anomalies. The Fukutin (FKTN) gene, which causes autosomal recessively inherited WWS is most often associated with Fukuyama congenital muscular dystrophy in Japan. We describe the clinical features of four nonconsanguinous Ashkenazi Jewish families with WWS and identify the underlying genetic basis for WWS. We screened for mutations in POMGnT1, POMT1, POMT2, and FKTN, genes causing WWS, by dideoxy sequence analysis. We identified an identical homozygous c.1167insA mutation in the FKTN gene on a common haplotype in all four families and identified 2/299 (0.7%) carriers for the c.1167insA mutation among normal American Ashkenazi Jewish adults. These data suggest that the c.1167insA FKTN mutation described by us is a founder mutation that can be used to target diagnostic testing and carrier screening in the Ashkenazi Jewish population. Copyright (c) 2009 John Wiley & Sons, Ltd.

  10. 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.

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

    Science.gov (United States)

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

    2015-01-01

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

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

    OpenAIRE

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

    2015-01-01

    [Purpose] This study sought to ascertain whether, in hemiplegic patients, the effect of a wheelchair cushion to suppress pelvic posterior tilt when initiating wheelchair propulsion would continue in subsequent propulsions. [Subjects] Eighteen hemiplegic patients who were able to propel a wheelchair in a seated position participated in this study. [Methods] An adjustable wheelchair was fitted with a cushion that had an anchoring function, and a thigh pad on the propulsion side was removed. Pro...

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

    Directory of Open Access Journals (Sweden)

    Okan Bakiner

    2013-08-01

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

  14. 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.

  15. ORNITHINE TRANSCARBAMYLASE DEFICIENCY – THE REAL CAUSE OF “FAMILY CURSE”. A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Zh. Sh. Bagomedova

    2016-01-01

    Full Text Available Ornithine transcarbamylase deficiency (type II hyperammonemia – X-linked metabolic disorder of the urea cycle, caused by mutations of the gene encoding ornithine transcarbamylase (OTC. Changes to the nervous system caused by degenerative processes in the gray and white matter of the cerebral hemispheres. The authors describe 1-year-old boy with ornithine transcarbamylase deficiency as a clinical example, with the onset of the disease in the first year of life, with refusal of food, vomiting, weakness and tiredness progressing to lethargy and unconsciousness, convulsive seizures, refusal from meat in the interictal period, delayed of psychomotor development. The child was admitted to the children’s intensive care unit in serious condition, unconscious with severe neurological symptoms. The clinical picture, the results of instrumental and laboratory examination and the presence of family history were the basis for the assumption of the hereditary origin of the disease. Genetic further examination was planned. In the context of children’s intensive care unit, the patient was undergoing of intensive therapy, which had no effect. Death occurred on the 5th day of hospitalization. To verify the diagnosis post-mortem autopsy was conducted, based on which was installed the immediate cause of death. In confirming the diagnosis is considered as tandem mass spectrometry, and DNA diagnostics.

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

    Science.gov (United States)

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

    1988-01-01

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

  17. Designing families and solid citizens: the dialectic of modernity and the Matrimonial Causes Bill, 1959.

    Science.gov (United States)

    Walter, J

    2001-01-01

    Policy-makers in the 1940s and 50s were intent on designing families which would produce solid citizens to engage in nation building. Historians offamilism treat it as an expression of modernism: a unifying, oppressive discourse now to be countered by the destabilising project of postmodernism. But this is not the whole story, for it omits the dialectical essence of 'the modern', which promises both 'progress' through technical rationality and individual achievement/self fulfilment. The other side of the dialectic has been avoided by dismissing individualism as a process of interpellation closely tied to the interests of technocratic elites. Out of the discontinuities within modernism there emerged opportunities for agency, the chance for people to make their own lives. The public controversy over the Matrimonial Causes Bill, 1959-at the height of what we are encouraged to think of as the familist decade-is explored as one instance.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1995-12-01

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

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

    DEFF Research Database (Denmark)

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

    2008-01-01

    walking in eight subjects with unilateral stroke. RESULTS: On the unaffected side, short-term synchronization was evident from the presence of a narrow central peak in cumulant densities and from the presence of significant coherence between these signals in the 10-25 Hz band. Such indicators of short...... on the affected side in hemiplegic patients during walking. SIGNIFICANCE: This is of importance for understanding the mechanisms responsible for reduced gait ability and development of new strategies for gait restoration....

  20. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    Gomez-Segovia, I; Gallowitsch, H J; Kresnik, E; Kumnig, G; Mikosch, P; Lind, P [Dept.of Nuclear Medicine and Endocrinology, LKH Klagenfurt (Austria)

    2002-09-01

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

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

    International Nuclear Information System (INIS)

    Gomez-Segovia, I.; Gallowitsch, H.J.; Kresnik, E.; Kumnig, G.; Mikosch, P.; Lind, P.

    2002-01-01

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

  3. Can we improve gait skills in chronic hemiplegics? A randomised control trial with gait trainer.

    Science.gov (United States)

    Dias, D; Laíns, J; Pereira, A; Nunes, R; Caldas, J; Amaral, C; Pires, S; Costa, A; Alves, P; Moreira, M; Garrido, N; Loureiro, L

    2007-12-01

    Partial body weight support (PBWS) is an accepted treatment for hemiplegic patients. The aim of this study is to compare the efficiency of gait trainer with conventional treatment on the gait management after stroke. Forty chronic post-stroke hemiplegics were part of a prospective research. Inclusion criteria were: first ever stroke in a chronic stage with stabilised motor deficits; age >18 and gait trainer, for the same period of time and frequency. Assessment tools: Motricity Index (MI); Toulouse Motor Scale (TMS); modified Ashworth Spasticity Scale (mASS); Berg Balance Scale (BBS); Rivermead Mobility Index (RMI); Fugl-Meyer Stroke Scale (F-MSS); Functional Ambulation Category (FAC); Barthel Index (BI); 10 meters, time up and go (TUG), 6 minutes, and step tests. EG and CG did the assessments before treatment (T(0)), right after treatment (T(1)), and on follow-up, 3 months later (T(2)). CG and EG were homogenous in all the variables at T(0). CG and EG showed improvement in almost all the assessment scales after treatment, although only some with relevant differences. EG showed statistically relevant improvement on T(1) and on T(2) in several of the assessment tools, whereas CG only showed statistically significant improvement after T(1) and only in some of the assessment tools. Both groups of chronic hemiplegic patients improved after either PBWS with gait trainer or Bobath treatment. Only subjects undergoing PBWS with gait trainer maintained functional gain after 3 months.

  4. [Spasticity and dynamic plantar pressure distribution measurements in hemiplegic spastic children].

    Science.gov (United States)

    Femery, V; Moretto, P; Renaut, H; Thévenon, A

    2001-02-01

    The aim of this study was to analyse the plantar pressure distribution in nine hemiplegic spastic children to illustrate the dynamic alteration during stance phase linked spasticity grade. The graduation of the lower limbs muscle tone related to the Aschworth spasticity scale enabled us to identify two groups of hemiplegics subjects. The groups Asch 1 and Asch 3 have respectively presented a low and a strong spasticity. The peak pressures during consecutive gait cycles were determined under the feet of 30 healthy subjects and two cerebral palsy groups using a wearable footprint analysis system. A statistical study showed a similarity between the two disabled groups. Peak pressures under the midfoot were significantly higher compared to the control group. While the plantar pressure distribution profile was specific for each group under all other anatomical structures. The significant alterations were observed under the forefoot and hallux. Spasticity modifies the foot contact to ground and leads to a specific plantar pressure distribution profile linked to the spasticity grade. The equinovarus with clawed toes deformity due to higher spasticity seems to be an important factor in terminal stance phase perturbations. However spastic hemiplegic subjects seem to adopt a gait pattern in agreement with stability optimization criteria.

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

    Science.gov (United States)

    Ueki, Yumi; Ramirez, Grisela; Salcedo, Ernesto; Stabio, Maureen E; Lefcort, Frances

    2016-01-01

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

  6. Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family

    Directory of Open Access Journals (Sweden)

    Myo-Jing Kim

    2014-12-01

    Full Text Available Autosomal dominant neurohypophyseal diabetes insipidus is a rare form of central diabetes insipidus that is caused by mutations in the vasopressin-neurophysin II (AVP-NPII gene. It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressin (AVP. Here we report a case of familial neurohypophyseal diabetes insipidus in four generations of a Korean family, caused by heterozygous missense mutation in exon 2 of the AVP-NPII gene (c.286G>T. This is the first report of such a case in Korea.

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

    Directory of Open Access Journals (Sweden)

    Antonio Carlos M. Pereira

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

  8. 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

  9. High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia

    DEFF Research Database (Denmark)

    Langsted, Anne; Kamstrup, Pia Rørbœk; Benn, Marianne

    2016-01-01

    , and that individuals with both high lipoprotein(a) concentrations and clinical familial hypercholesterolaemia have the highest risk of myocardial infarction. METHODS: We did a prospective cohort study that included data from 46 200 individuals from the Copenhagen General Population Study who had lipoprotein...... cholesterol, mean lipoprotein(a) concentrations were 23 mg/dL in individuals unlikely to have familial hypercholesterolaemia, 32 mg/dL in those with possible familial hypercholesterolaemia, and 35 mg/dL in those with probable or definite familial hypercholesterolaemia (ptrend... LDL cholesterol for lipoprotein(a) cholesterol content the corresponding values were 24 mg/dL for individuals unlikely to have familial hypercholesterolaemia, 22 mg/dL for those with possible familial hypercholesterolaemia, and 21 mg/dL for those with probable or definite familial...

  10. A sewage disposal failure as a cause of ascariasis and giardiasis epidemic in a family.

    Science.gov (United States)

    Totkova, A; Klobusicky, M; Holkova, R; Valent, M; Stojkovicova, H

    2004-01-01

    In monitoring the incidence of intestinal parasites in children and employees of a nursery the authors examined 31 children with 8 (25.81%) and 16 employees with 3 (18.75%) positive results. The authors wanted to examine also the family members of 8 positive children and 3 positive employees but except from the cleaner's family, (Ascaris lumburicoides, Enterobius vermicularis and Entamoeba coli) nobody accepted the offer. All 8 members of a large family except for Patient 1 (a cleaner) and her grandson were without clinical and laboratory findings. They constitute 3 independent families who lived in 1st category flats. On August 31 there was an extensive sewage disposal failure in the ground floor flat of Family II and the flat was flooded by sewage. All family members worked solidarily on cleaning and also the members of Family IV who are friends of Family II. As shown by clinical symptoms of 'virosis', during the pre-patent period and after an outbreak within 73-78 days, laboratory findings of the family members demonstrated a severe family infection equal to a epidemic of intestinal parasitosis. Ascaris lumbricoides was diagnosed in 8 family members (61.54%) and Giardia intestinalis in 7 family members (53.85%) involved in cleaning. Enterobius vermicularis was found in 2 and Etamoeba coli in 1 family member. In monitored persons, in extreme hygienic conditions during the failure and later, a mass contraction arose on the basis of infection. The fact, that family epidemic arose subsequently, proved, in contrast to sporadic findings in children and adults, a 6.4 and 3.3 times higher incidence of Ascaris lumbricoides and a 5.6 and 8.6 times higher incidence of Giardia intestinalis. The authors discus the reasons of incidence and also preventive measures in population. (Tab. 3, Ref. 29.).

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

    Science.gov (United States)

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

    2015-11-01

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

  12. Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.

    Science.gov (United States)

    Yamaguti, Paulo Marcio; Neves, Francisco de Assis Rocha; Hotton, Dominique; Bardet, Claire; de La Dure-Molla, Muriel; Castro, Luiz Claudio; Scher, Maria do Carmo; Barbosa, Maristela Estevão; Ditsch, Christophe; Fricain, Jean-Christophe; de La Faille, Renaud; Figueres, Marie-Lucile; Vargas-Poussou, Rosa; Houillier, Pascal; Chaussain, Catherine; Babajko, Sylvie; Berdal, Ariane; Acevedo, Ana Carolina

    2017-01-01

    Amelogenesis imperfecta (AI) is a group of genetic diseases characterised by tooth enamel defects. AI was recently described in patients with familial hypercalciuria and hypomagnesaemia with nephrocalcinosis (FHHNC) caused by CLDN16 mutations. In the kidney, claudin-16 interacts with claudin-19 to control the paracellular passage of calcium and magnesium. FHHNC can be linked to mutations in both genes. Claudin-16 was shown to be expressed during amelogenesis; however, no data are available on claudin-19. Moreover, the enamel phenotype of patients with CLDN19 mutations has never been described. In this study, we describe the clinical and genetic features of nine patients with FHHNC carrying CLDN19 mutations and the claudin-19 expression profile in rat ameloblasts. Six FHHNC Brazilian patients were subjected to mutational analysis. Three additional French patients were recruited for orodental characterisation. The expression profile of claudin-19 was evaluated by RT-qPCR and immunofluorescence using enamel epithelium from rat incisors. All patients presented AI at different degrees of severity. Two new likely pathogenic variations in CLDN19 were found: p.Arg200Gln and p.Leu90Arg. RT-qPCR revealed low Cldn19 expression in ameloblasts. Confocal analysis indicated that claudin-19 was immunolocalised at the distal poles of secretory and maturing ameloblasts. For the first time, it was demonstrated that AI is associated with FHHNC in patients carrying CLDN19 mutations. The data suggest claudin-19 as an additional determinant in enamel formation. Indeed, the coexistence of hypoplastic and hypomineralised AI in the patients was consistent with claudin-19 expression in both secretory and maturation stages. Additional indirect systemic effects cannot be excluded. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  13. Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family.

    Science.gov (United States)

    Lalwani, A K; Attaie, A; Randolph, F T; Deshmukh, D; Wang, C; Mhatre, A; Wilcox, E

    1998-12-04

    Waardenburg syndrome (WS) is an autosomal-dominant neural crest cell disorder phenotypically characterized by hearing impairment and disturbance of pigmentation. A presence of dystopia canthorum is indicative of WS type 1, caused by loss of function mutation in the PAX3 gene. In contrast, type 2 WS (WS2) is characterized by normally placed medial canthi and is genetically heterogeneous; mutations in MITF (microphthalmia associated transcription factor) associated with WS2 have been identified in some but not all affected families. Here, we report on a three-generation Indian family with a point mutation in the MITF gene causing WS2. This mutation, initially reported in a Northern European family, creates a stop codon in exon 7 and is predicted to result in a truncated protein lacking the HLH-Zip or Zip structure necessary for normal interaction with its target DNA motif. Comparison of the phenotype between the two families demonstrates a significant difference in pigmentary disturbance of the eye. This family, with the first documented case of two unrelated WS2 families harboring identical mutations, provides additional evidence for the importance of genetic background on the clinical phenotype.

  14. 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

  15. Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations

    NARCIS (Netherlands)

    van Paassen, Barbara W.; Bronk, Marieke; Verhamme, Camiel; van Ruissen, Fred; Baas, Frank; van Spaendonck-Zwarts, Karin Y.; de Visser, Marianne

    2017-01-01

    We report a family in which an autosomal dominantly inherited Charcot-Marie-Tooth (CMT) disease type 2 was suspected. The affected family members (proband, sister, father, and paternal aunt) showed intrafamilial clinical variability. The proband needed walking aids since adolescence because of

  16. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

    NARCIS (Netherlands)

    A. Legati (Andrea); D. Giovannini (Donatella); G. Nicolas (Gaël); U. López-Sánchez (Uriel); B. Quintáns (Beatriz); J.R. Oliveira (Joao); R.L. Sears (Renee L); E.M. Ramos (Eliana Marisa); E. Spiteri (Elizabeth); M.J. Sobrido (Maria); A. Carracedo (Angel); C. Castro-Fernández (Cristina); S. Cubizolle (Stéphanie); B.L. Fogel (Brent L); C. Goizet (Cyril); J.C. Jen (Joanna C); S. Kirdlarp (Suppachok); A.E. Lang (Anthony E); Z. Miedzybrodzka (Zosia); W. Mitarnun (Witoon); M. Paucar (Martin); H.L. Paulson (Henry); J. Pariente (Jérémie); A.-C. Richard (Anne-Claire); N.S. Salins (Naomi S); S.A. Simpson (Sheila A); P. Striano (Pasquale); P. Svenningsson (Per); F. Tison (François); V.K. Unni (Vivek K); O. Vanakker (Olivier); M.W. Wessels (Marja); S. Wetchaphanphesat (Suppachok); M. Yang (Michele); F. Boller (Francois); D. Campion (Dominique); D. Hannequin (Didier); M. Sitbon (Marc); H. Geschwind; J.-L. Battini (Jean-Luc); D. Coppola (Domenico)

    2015-01-01

    textabstractPrimary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions and has thus far been associated with SLC20A2, PDGFB or PDGFRB mutations. We identified in multiple families with PFBC mutations

  17. 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

  18. CT findings of leg muscles in the hemiplegics due to cerebrovascular accidents. Correlation to disuse atrophy

    Energy Technology Data Exchange (ETDEWEB)

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

    1987-09-01

    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.

  19. 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)

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

    Science.gov (United States)

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

    2014-08-01

    Anophthalmia or microphthalmia (A/M), characterized by absent or small eye, can be unilateral or bilateral and represent developmental anomalies due to the mutations in several genes. Recently, mutations in aldehyde dehydrogenase family 1, member A3 (ALDH1A3) also known as retinaldehyde dehydrogenase 3, have been reported to cause A/M. Here, we screened a cohort of 75 patients with A/M and showed that mutations in ALDH1A3 occurred in six families. Based on this series, we estimate that mutations in ALDH1A3 represent a major cause of A/M in consanguineous families, and may be responsible for approximately 10% of the cases. Screening of this gene should be performed in a first line of investigation, together with SOX2. © 2014 WILEY PERIODICALS, INC.

  1. Mental Models of Cause and Inheritance for Type 2 Diabetes Among Unaffected Individuals Who Have a Positive Family History.

    Science.gov (United States)

    Daack-Hirsch, Sandra; Shah, Lisa L; Cady, Alyssa D

    2018-03-01

    Using the familial risk perception (FRP) model as a framework, we elicited causal and inheritance explanations for type 2 diabetes (T2D) from people who do not have T2D but have a family history for it. We identified four composite mental models for cause of T2D: (a) purely genetic; (b) purely behavioral/environmental; (c) direct multifactorial, in which risk factors interact and over time directly lead to T2D; and (d) indirect multifactorial, in which risk factors interact and over time cause a precursor health condition (such as obesity or metabolic syndrome) that leads to T2D. Interestingly, participants described specific risk factors such as genetics, food habits, lifestyle, weight, and culture as "running in the family." Our findings provide insight into lay beliefs about T2D that can be used by clinicians to anticipate or make sense of responses to questions they pose to patients about mental models for T2D.

  2. 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

  3. 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.

  4. Deaths from external causes in Cuiabá, 0 a 24 years: Profile of victims and families according to intentionality.

    Science.gov (United States)

    Martins, Christine Baccarat de Godoy; Jorge, Maria Helena Prado de Mello

    2013-06-01

    In view of the importance of knowing the circumstances associated with external causes (accidents and violence), this study analyzes the profile of the victims and their families as to the intentionality of the event (intentional or accidental). Cross-sectional study, which population comprise children, adolescents, and young people (age 0 to 24) who lived in Cuiabá, MT, and died from external causes in 2009. The data, processed by the Epi-Info software, were taken from the Declarations of Death and interviews with the families of the victims. The nonparametric chi-square test showed statistically significant differences between accidental and intentional deaths by sex and the type of accident or violence, the occurrence of the previous event external cause, parental education, family type, income, responsible for supporting the house, mother's age and caregiver. Among the victims, male participation (88.7 %) stands out compared to female (11.3 %). 50.0% of the deaths of females were accidental and 50.0% intentional; 68.2% of the deaths of males were intentional, 29.1% accidental and 2.7% from undetermined intent. Among the intentional deaths, 72.5% of the victims had already suffered violence. As the degree of instruction of the parents increases, intentional deaths decrease. The proportion of reconstituted/fragmented families is higher for fatal accidents. Intentional causes increase as family income decreases and the age of the parents increases. The agglomeration of people in the homes is higher for intentional deaths. Analizing the profiles of families and victims as to the intentionality of the event allows directing local prevention and control policies.

  5. 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...

  6. A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

    Science.gov (United States)

    Hilgert, N; Kahrizi, K; Dieltjens, N; Bazazzadegan, N; Najmabadi, H; Smith, R J H; Van Camp, G

    2009-04-01

    Usher syndrome (USH) is a clinically and genetically heterogeneous disease. The three recognised clinical phenotypes (types I, II and III; USH1, USH2 and USH3) are caused by mutations in nine different genes. USH2C is characterised by moderate to severe hearing loss, retinitis pigmentosa and normal vestibular function. One earlier report describes mutations in GPR98 (VLGR1) in four families segregating this phenotype. To detect the disease-causing mutation in an Iranian family segregating USH2C. In this family, five members had a phenotype compatible with Usher syndrome, and two others had nonsyndromic hearing loss. Mutation analysis of all 90 coding exons of GPR98. Consistent with these clinical findings, the five subjects with USH carried a haplotype linked to the USH2C locus, whereas the two subjects with nonsyndromic hearing loss did not. We identified a new mutation in GPR98 segregating with USH2C in this family. The mutation is a large deletion g.371657_507673del of exons 84 and 85, presumably leading to a frameshift. A large GPR98 deletion of 136 017 bp segregates with USH2C in an Iranian family. To our knowledge, this is only the second report of a GPR98 mutation, and the first report on male subjects with USH2C and a GPR98 mutation.

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

    Science.gov (United States)

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

    2013-01-01

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

  8. The Effect of Rocker Bar Ankle Foot Orthosis on Functional Mobility in Post-Stroke Hemiplegic Patients

    Directory of Open Access Journals (Sweden)

    Farzad Farmani

    2015-09-01

    Full Text Available Objectives: Ankle Foot Orthoses (AFOs are widely utilized to improve walking ability in hemiplegic patients. The present study aimed to evaluate the effect of Rocker bar Ankle Foot Orthosis (RAFO on functional mobility in post-stroke hemiplegic patients. Methods: Fifteen hemiplegic patients (men and women who were at least 6-months post-stroke and able to walk without assistive device for at least 10 meters voluntarily participated in this study. The patients were examined with and without RAFO. Their functional mobility was evaluated through 10-meter walk test and Timed Up and Go (TUG test. Also, paired t-test was used to analyze obtained data. Results: When patients used RAFO, their gait speed significantly increased (P<0.05. Also, the time of performing TUG test experienced a significant decrease using RAFO compared with utilizing shoe only (P<0.05. Discussion: RAFO led to a significant improvement in functional mobility in hemiplegic patient’s secondary to stroke. It seems that, it has been due to the positive effect of rocker modification on improving push off and transferring weight during stance phase of gait.

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

    NARCIS (Netherlands)

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

    2006-01-01

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

  10. 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.

  11. The semiquantitative three-phase bone scintigraphy on hemiplegic patients with earlier complex regional pain syndrome

    International Nuclear Information System (INIS)

    Li Fang; Liu Xingdang; Lu Zhihui; Liu Congjin

    2010-01-01

    Objective: To investigate the difference between the early phases and delay phase of three-phase bone scintigraphy on hemiplegic patients with earlier complex regional pain syndrome (CRPS). Methods: Twenty-nine stroke patients with hemiplegia complicating CRPS received three-phase bone scintigraphy after intravenous injection of 99 Tc m -methylene diphosphonate (MDP). The region of interest (ROI) technique was used to obtain the radioactive counts of involved joints and contralateral sites on wrists, metacarpophalangeal, proximal interphalangeal and distal interphalangeal joints. The total counts of these four sites in each patient were then obtained and the total uptake ratios of involved joints/contralateral joints for each phase were calculated to compare the difference among the three phases. Wilcoxon test and ANOVA were used in data analyses. Results: The involved joints of hemiplegic side displayed higher tracer uptake. There were significant differences of the radioactive counts between involved joints and uninvolved ones in the perfusion, pool and delay phase (Wilcoxon test, Z: -4.73 to -2.10, P<0.05). There was no significant difference of total uptake ratios of involved joints/contralateral joints among the three phases (ANOVA, F = 0. 807, P < 0.05). Conclusions: Due to higher bone seeking agent accumulation on three-phase bone scintigraphy, both early phases and delay phase imaging showed similar value in stroke patients with hemiplegia complicating earlier CRPS. (authors)

  12. 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.

  13. Mini-mental state exam for children (MMC) in children with hemiplegic cerebral palsy.

    Science.gov (United States)

    Moura, Ricardo; Andrade, Peterson Marco Oliveira; Fontes, Patrícia Lemos Bueno; Ferreira, Fernanda Oliveira; Salvador, Larissa de Souza; Carvalho, Maria Raquel Santos; Haase, Vitor Geraldi

    2017-01-01

    Cognitive impairment is frequent in cerebral palsy (CP) and there is a lack of multiprofessional screening instruments. The aim of this study was to investigate the utility of the Mini-Mental State Examination for Children (MMC), an adapted version of the Mini-Mental State Examination, in screening for cognitive impairments in children with CP. We assessed 397 Brazilian children, 310 with typical development and 87 with CP (hemiplegic and quadriplegic forms), aged 5-16 years. Association between the MMC and general intelligence was assessed by the Colored Progressive Matrices instrument. Psychometric indexes for the MMC were adequate. ROC analyses revealed effective diagnostic accuracy in all ages assessed. Cut-off values are reported. Major difficulties on the MMC were observed in children with CP, particularly individuals with the quadriplegic form. Moreover, the MMC showed moderate correlation with the intelligence test, and was reliable in discriminating, among clinical cases, those with poorer cognitive abilities. The MMC could be useful as a multiprofessional screening instrument for cognitive impairment in children with hemiplegic CP. Results of the MMC in quadriplegic CP children should be interpreted with caution. Diagnosis should be confirmed by further psychological testing.

  14. 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.

  15. 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...

  16. 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.

  17. An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis

    Directory of Open Access Journals (Sweden)

    Yi Dai

    2017-07-01

    Full Text Available Autosomal dominant adult-onset demyelinating leukodystrophy (ADLD is a very rare neurological disorder featured with late onset, slowly progressive central nervous system demyelination. Duplication or over expression of the lamin B1 (LMNB1 gene causes ADLD. In this study, we undertook a comprehensive clinical evaluation and genetic detection for a Chinese family with ADLD. The proband is a 52-year old man manifested with autonomic abnormalities, pyramidal tract dysfunction. MRI brain scan identified bilateral symmetric white matter (WM hyper-intensities in periventricular and semi-oval WM, cerebral peduncles and middle cerebellar peduncles. The proband has a positive autosomal dominant family history with similar clinical manifestations with a trend of genetic anticipation. In order to understand the genetic cause of the disease in this family, target exome capture based next generation sequencing has been done, but no causative variants or possibly pathogenic variants has been identified. However, Multiplex ligand-dependent probe amplification (MLPA showed whole duplication of LMNB1 gene which is co-segregated with the disease phenotype in this family. This is the first genetically confirmed LMNB1 associated ADLD pedigree from China.

  18. Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome

    Science.gov (United States)

    Rice, Gillian; Newman, William G.; Dean, John; Patrick, Teresa; Parmar, Rekha; Flintoff, Kim; Robins, Peter; Harvey, Scott; Hollis, Thomas; O’Hara, Ann; Herrick, Ariane L.; Bowden, Andrew P.; Perrino, Fred W.; Lindahl, Tomas; Barnes, Deborah E.; Crow, Yanick J.

    2007-01-01

    TREX1 constitutes the major 3′→5′ DNA exonuclease activity measured in mammalian cells. Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutières syndrome at the AGS1 locus. Interestingly, Aicardi-Goutières syndrome shows overlap with systemic lupus erythematosus at both clinical and pathological levels. Here, we report a heterozygous TREX1 mutation causing familial chilblain lupus. Additionally, we describe a de novo heterozygous mutation, affecting a critical catalytic residue in TREX1, that results in typical Aicardi-Goutières syndrome. PMID:17357087

  19. 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).

  20. 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....

  1. Contralateral peripheral neurotization for a hemiplegic hindlimb after central neurological injury.

    Science.gov (United States)

    Zheng, Mou-Xiong; Hua, Xu-Yun; Jiang, Su; Qiu, Yan-Qun; Shen, Yun-Dong; Xu, Wen-Dong

    2018-01-01

    OBJECTIVE Contralateral peripheral neurotization surgery has been successfully applied to rescue motor function of the hemiplegic upper extremity in patients with central neurological injury (CNI). It may contribute to strengthened neural pathways between the contralesional cortex and paretic limbs. However, the effect of this surgery in the lower extremities remains unknown. In the present study the authors explored the effectiveness and safety of contralateral peripheral neurotization in treating a hemiplegic lower extremity following CNI in adult rats. METHODS Controlled cortical impact (CCI) was performed on the hindlimb motor cortex of 36 adult Sprague-Dawley rats to create severe unilateral traumatic brain injury models. These CCI rats were randomly divided into 3 groups. At 1 month post-CCI, the experimental group (Group 1, 12 rats) underwent contralateral L-6 to L-6 transfer, 1 control group (Group 2, 12 rats) underwent bilateral L-6 nerve transection, and another control group (Group 3, 12 rats) underwent an L-6 laminectomy without injuring the L-6 nerves. Bilateral L-6 nerve transection rats without CCI (Group 4, 12 rats) and naïve rats (Group 5, 12 rats) were used as 2 additional control groups. Beam and ladder rung walking tests and CatWalk gait analysis were performed in each rat at baseline and at 0.5, 1, 2, 4, 6, 8, and 10 months to detect the skilled walking functions and gait parameters of both hindlimbs. Histological and electromyography studies were used at the final followup to verify establishment of the traumatic brain injury model and regeneration of the L6-L6 neural pathway. RESULTS In behavioral tests, comparable motor injury in the paretic hindlimbs was observed after CCI in Groups 1-3. Group 1 started to show significantly lower slip and error rates in the beam and ladder rung walking tests than Groups 2 and 3 at 6 months post-CCI (p walking impairment in the intact hindlimbs in Groups 1 and 2 (compared with Group 3) and in the bilateral

  2. In-home virtual reality videogame telerehabilitation in adolescents with hemiplegic cerebral palsy.

    Science.gov (United States)

    Golomb, Meredith R; McDonald, Brenna C; Warden, Stuart J; Yonkman, Janell; Saykin, Andrew J; Shirley, Bridget; Huber, Meghan; Rabin, Bryan; Abdelbaky, Moustafa; Nwosu, Michelle E; Barkat-Masih, Monica; Burdea, Grigore C

    2010-01-01

    Golomb MR, McDonald BC, Warden SJ, Yonkman J, Saykin AJ, Shirley B, Huber M, Rabin B, AbdelBaky M, Nwosu ME, Barkat-Masih M, Burdea GC. In-home virtual reality videogame telerehabilitation in adolescents with hemiplegic cerebral palsy. To investigate whether in-home remotely monitored virtual reality videogame-based telerehabilitation in adolescents with hemiplegic cerebral palsy can improve hand function and forearm bone health, and demonstrate alterations in motor circuitry activation. A 3-month proof-of-concept pilot study. Virtual reality videogame-based rehabilitation systems were installed in the homes of 3 participants and networked via secure Internet connections to the collaborating engineering school and children's hospital. Adolescents (N=3) with severe hemiplegic cerebral palsy. Participants were asked to exercise the plegic hand 30 minutes a day, 5 days a week using a sensor glove fitted to the plegic hand and attached to a remotely monitored videogame console installed in their home. Games were custom developed, focused on finger movement, and included a screen avatar of the hand. Standardized occupational therapy assessments, remote assessment of finger range of motion (ROM) based on sensor glove readings, assessment of plegic forearm bone health with dual-energy x-ray absorptiometry (DXA) and peripheral quantitative computed tomography (pQCT), and functional magnetic resonance imaging (fMRI) of hand grip task. All 3 adolescents showed improved function of the plegic hand on occupational therapy testing, including increased ability to lift objects, and improved finger ROM based on remote measurements. The 2 adolescents who were most compliant showed improvements in radial bone mineral content and area in the plegic arm. For all 3 adolescents, fMRI during grip task contrasting the plegic and nonplegic hand showed expanded spatial extent of activation at posttreatment relative to baseline in brain motor circuitry (eg, primary motor cortex and

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

    Science.gov (United States)

    Pastor, Victor B; Sahoo, Sushree S; Boklan, Jessica; Schwabe, Georg C; Saribeyoglu, Ebru; Strahm, Brigitte; Lebrecht, Dirk; Voss, Matthias; Bryceson, Yenan T; Erlacher, Miriam; Ehninger, Gerhard; Niewisch, Marena; Schlegelberger, Brigitte; Baumann, Irith; Achermann, John C; Shimamura, Akiko; Hochrein, Jochen; Tedgård, Ulf; Nilsson, Lars; Hasle, Henrik; Boerries, Melanie; Busch, Hauke; Niemeyer, Charlotte M; Wlodarski, Marcin W

    2018-03-01

    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 seven patients from four unrelated pedigrees presenting with myelodysplastic syndrome and loss of chromosome 7/7q. Their median age at diagnosis was 2.1 years (range, 1-42). All patients presented with thrombocytopenia with or without additional cytopenias and a hypocellular marrow without an increase of blasts. Genomic studies identified constitutional mutations (p.H880Q, p.R986H, p.R986C and p.V1512M) in the SAMD9L gene on 7q21, with decreased allele frequency in hematopoiesis. The non-random loss of mutated SAMD9L alleles was attained via monosomy 7, deletion 7q, UPD7q, or acquired truncating SAMD9L variants p.R1188X and p.S1317RfsX21. Incomplete penetrance was noted in 30% (3/10) of mutation carriers. Long-term observation revealed divergent outcomes with either progression to leukemia and/or accumulation of driver mutations (n=2), persistent monosomy 7 (n=4), and transient monosomy 7 followed by spontaneous recovery with SAMD9L -wildtype UPD7q (n=2). Dysmorphic features or neurological symptoms were absent in our patients, pointing to the notion that myelodysplasia with monosomy 7 can be a sole manifestation of SAMD9L disease. Collectively, our results define a new subtype of familial myelodysplastic syndrome and provide an explanation for the phenomenon of transient monosomy 7. Registered at: www.clinicaltrials.gov; #NCT00047268 . Copyright© 2018 Ferrata Storti Foundation.

  4. 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.

  5. 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.

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

    NARCIS (Netherlands)

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

    2008-01-01

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

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

    NARCIS (Netherlands)

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

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

  8. 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

  9. 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)

  10. 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.

  11. 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.

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

    Directory of Open Access Journals (Sweden)

    Angela eBartolo

    2014-01-01

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

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

    Science.gov (United States)

    Frisell, Thomas; Pawitan, Yudi; Långström, Niklas

    2012-01-01

    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. 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. 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. Our results suggest that the association between general cognitive ability and violent criminality is confounded partly by factors shared by brothers. However, most of the association remains even

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

    Science.gov (United States)

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

    2014-01-01

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

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

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    Won-Seok Kim

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

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

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    Jungyoon Kim

    2011-01-01

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

  19. 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.

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

    Science.gov (United States)

    Cronin, N J; Valtonen, A M; Waller, B; Pöyhönen, T; Avela, J

    2016-03-01

    Reflex excitability is increased in hemiplegic patients compared to healthy controls. One challenge of stroke rehabilitation is to decrease the effects of hyperreflexia, which may be possible with water immersion. Methods/Aims: The present study examined the effects of acute water immersion on electrically-evoked Hmax:Mmax ratios (a measure of reflex excitability) in 7 hyperreflexive hemiplegic patients and 7 age-matched healthy people. Hmax:Mmax ratios were measured from soleus on dry land (L1), immediately after (W1) and 5 minutes after immersion (W5), and again after five minutes on land (L5). Water immersion led to an acute increase in Hmax:Mmax ratio in both groups. However, after returning to dry land, there was a non-significant decrease in the Hmax:Mmax ratio of 8% in the hemiplegic group and 10% in healthy controls compared to pre-immersion values. A short period of water immersion can decrease peripheral reflex excitability after returning to dry land in both healthy controls and post-stroke patients, although longer immersion periods may be required for sustainable effects. Water immersion may offer promise as a low-risk, non-invasive and non-pharmaceutical method of decreasing hyperreflexivity, and could thus support aquatic rehabilitation following stroke.

  1. A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.

    Science.gov (United States)

    Uzak, Asli Subasioglu; Tokgoz, Bulent; Dundar, Munis; Tekin, Mustafa

    2013-03-01

    Alport syndrome (AS) is a genetically heterogeneous disorder that is characterized by hematuria, progressive renal failure typically resulting in end-stage renal disease, sensorineural hearing loss, and variable ocular abnormalities. Only 15% of cases with AS are autosomal recessive and are caused by mutations in the COL4A3 or COL4A4 genes, encoding type IV collagen. Clinical data in a large consanguineous family with four affected members were reviewed, and genomic DNA was extracted. For mapping, 15 microsatellite markers flanking COL4A3, COL4A4, and COL4A5 in 16 family members were typed. For mutation screening, all coding exons of COL4A3 were polymerase chain reaction- amplified and Sanger-sequenced from genomic DNA. The disease locus was mapped to chromosome 2q36.3, where COL4A3 and COL4A4 reside. Sanger sequencing revealed a novel mis-sense mutation (c.2T>C; p.M1T) in exon 1 of COL4A3. The identified nucleotide change was not found in 100 healthy ethnicity-matched controls via Sanger sequencing. We present a large consanguineous Turkish family with AS that was found to have a COL4A3 mutation as the cause of the disease. Although the relationship between the various genotypes and phenotypes in AS has not been fully elucidated, detailed clinical and molecular analyses are helpful for providing data to be used in genetic counseling. It is important to identify new mutations to clarify their clinical importance, to assess the prognosis of the disease, and to avoid renal biopsy for final diagnosis.

  2. 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.

  3. APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.

    Science.gov (United States)

    Dussaillant, Catalina; Serrano, Valentina; Maiz, Alberto; Eyheramendy, Susana; Cataldo, Luis Rodrigo; Chavez, Matías; Smalley, Susan V; Fuentes, Marcela; Rigotti, Attilio; Rubio, Lorena; Lagos, Carlos F; Martinez, José Alfredo; Santos, José Luis

    2012-11-15

    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. 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. 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. 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.

  4. 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.

  5. 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....

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

    Science.gov (United States)

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

    2012-12-01

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

  7. A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.

    Science.gov (United States)

    Naseer, Muhammad Imran; Rasool, Mahmood; Jan, Mohammed M; Chaudhary, Adeel G; Pushparaj, Peter Natesan; Abuzenadah, Adel M; Al-Qahtani, Mohammad H

    2016-12-15

    PGAP2 (Post-GPI Attachment to Proteins 2) gene is involved in lipid remodeling steps of Glycosylphosphatidylinositol (GPI)-anchor maturation. At the surface of the cell this gene is required for proper expression of GPI-anchored proteins. Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation. Mutations in the PGAP2 gene cause hyperphosphatasia mental retardation syndrome-3. We have identified a large consanguineous family from Saudi origin segregating developmental delay, intellectual disability, epilepsy and microcephaly. Whole exome sequencing with 100× coverage was performed on two affected siblings of the family. Data analysis in the patient revealed a novel missense mutation c.191C>T in PGAP2 gene resulting in Alanine to Valine substitution (Ala64Val). The mutation was reconfirmed and validated by subsequent Sanger sequencing method. The mutation was ruled out in 100 unrelated healthy controls. We suggest that this pathogenic mutation disrupts the proper function of the gene proteins resulting in the disease state. Copyright © 2016 Elsevier B.V. All rights reserved.

  8. Familial knockin mutation of LRRK2 causes lysosomal dysfunction and accumulation of endogenous insoluble α-synuclein in neurons.

    Science.gov (United States)

    Schapansky, Jason; Khasnavis, Saurabh; DeAndrade, Mark P; Nardozzi, Jonathan D; Falkson, Samuel R; Boyd, Justin D; Sanderson, John B; Bartels, Tim; Melrose, Heather L; LaVoie, Matthew J

    2018-03-01

    Missense mutations in the multi-domain kinase LRRK2 cause late onset familial Parkinson's disease. They most commonly with classic proteinopathy in the form of Lewy bodies and Lewy neurites comprised of insoluble α-synuclein, but in rare cases can also manifest tauopathy. The normal function of LRRK2 has remained elusive, as have the cellular consequences of its mutation. Data from LRRK2 null model organisms and LRRK2-inhibitor treated animals support a physiological role for LRRK2 in regulating lysosome function. Since idiopathic and LRRK2-linked PD are associated with the intraneuronal accumulation of protein aggregates, a series of critical questions emerge. First, how do pathogenic mutations that increase LRRK2 kinase activity affect lysosome biology in neurons? Second, are mutation-induced changes in lysosome function sufficient to alter the metabolism of α-synuclein? Lastly, are changes caused by pathogenic mutation sensitive to reversal with LRRK2 kinase inhibitors? Here, we report that mutation of LRRK2 induces modest but significant changes in lysosomal morphology and acidification, and decreased basal autophagic flux when compared to WT neurons. These changes were associated with an accumulation of detergent-insoluble α-synuclein and increased neuronal release of α-synuclein and were reversed by pharmacologic inhibition of LRRK2 kinase activity. These data demonstrate a critical and disease-relevant influence of native neuronal LRRK2 kinase activity on lysosome function and α-synuclein homeostasis. Furthermore, they also suggest that lysosome dysfunction, altered neuronal α-synuclein metabolism, and the insidious accumulation of aggregated protein over decades may contribute to pathogenesis in this late-onset form of familial PD. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. 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

  10. 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.

  11. 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.

  12. 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)

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1988-02-01

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

  14. 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

  15. [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.

  16. 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.

  17. Effect of Intra-articular Hyaluronic Acid Injection on Hemiplegic Shoulder Pain After Stroke.

    Science.gov (United States)

    Jang, Myung Hun; Lee, Chang-Hyung; Shin, Yong-Il; Kim, Soo-Yeon; Huh, Sung Chul

    2016-10-01

    To evaluate the efficacy of intra-articular hyaluronic acid (IAHA) injection for hemiplegic shoulder pain (HSP) after stroke. Thirty-one patients with HSP and limited range of motion (ROM) without spasticity of upper extremity were recruited. All subjects were randomly allocated to group A (n=15) for three weekly IAHA injection or group B (n=16) for a single intra-articular steroid (IAS) injection. All injections were administered by an expert physician until the 8th week using a posterior ultrasonography-guided approach. Shoulder joint pain was measured using the Wong-Baker Scale (WBS), while passive ROM was measured in the supine position by an expert physician. There were no significant intergroup differences in WBS or ROM at the 8th week. Improvements in forward flexion and external rotation were observed from the 4th week in the IAHA group and the 8th week in the IAS group. Subjects experienced a statistically significant improvement in pain from the 1st week in the IAS and from the 8th week in IAHA group, respectively. IAHA seems to have a less potent ability to reduce movement pain compared to steroid in the early period. However, there was no statistically significant intergroup difference in WBS and ROM improvements at the 8th week. IAHA might be a good alternative to steroid for managing HSP when the use of steroid is limited.

  18. 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...

  19. 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.

  20. 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.

  1. 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.

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

    Directory of Open Access Journals (Sweden)

    Jin Hyun Kim

    2015-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Hsiu-Ching Chiu

    2016-07-01

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

  4. 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)

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

    Directory of Open Access Journals (Sweden)

    Hong-Yang Wang

    2015-01-01

    Full Text Available Background: There are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI, including 92 causative genes for nonsyndromic hearing loss, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI. Traditional linkage analysis and candidate gene sequencing are not effective at detecting the ADNSHHI, especially for the unconditional families that may have more than one pathogenic cause. This study identified two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional ADNSHHI. Methods: To decipher the genetic code of a Chinese family (family 686 with ADNSHHI, different gene screening techniques have been performed, including linkage analysis, candidate genes screening, high-throughput sequencing and Sanger sequencing. These techniques were done on samples obtained from this family over a period of 10 years. Results: We identified a pathogenic missense mutation, c. 2081G>A (p.G694E, in TJP2, a gene that plays a crucial role in apoptosis and age-related hearing loss (ARHL. The mutation was co-segregated in this pedigree in all, but not in the two patients who presented with different phenotypes from the other affected family members. In one of the two patients, we confirmed that the compound heterozygosity for p.Y136FNx01 and p.G45E in the GJB2 gene may account for the phenotype shown in this patient. Conclusions: We identified the co-occurrence of two genetic causes in family 686. The possible disease-causing missense mutation of TJP2 in family 686 presents an opportunity for further investigation into ARHL. It is necessary to combine various genes screening methods, especially for some unconventional cases.

  6. Effects of Nintendo Wii™ Training on Occupational Performance, Balance, and Daily Living Activities in Children with Spastic Hemiplegic Cerebral Palsy: A Single-Blind and Randomized Trial.

    Science.gov (United States)

    Atasavun Uysal, Songül; Baltaci, Gül

    2016-10-05

    This study aimed at assessing how the addition of Nintendo Wii ™ (NW) system to the traditional therapy influences occupational performance, balance, and daily living activities in children with spastic hemiplegic Cerebral Palsy (CP). The present study is a single-blind and randomized trial involving 24 children aged 6-14 years, classified as level I or II on the Gross Motor Function Classification System. The children were allocated into two groups: an intervention and a control group, and their families participated in the study. The activity performance analysis of the children was undertaken by using the Canadian Occupational Performance Measure (COPM), functional balance was measured with the Pediatric Balance Scale (PBS), and activities of daily living were assessed with Pediatric Evaluation of Disability Inventory (PEDI). Twenty-four children with CP were randomly divided into two groups: intervention (n = 12) and control group (n = 12). All children in both groups continued their traditional physiotherapy program twice a week, 45 minutes per session, whereas the participants in the intervention group, additionally, were trained with NW, two other days of the week for 12 weeks, with each session lasting for 30 minutes. Self-care, mobility, PEDI total, PBS, and performance of COPM scores increased in the NW group after intervention. Self-care, mobility, and total PEDI increased in the control group as well. However, there was no statistically significant difference found between the groups, except for PBS (P < 0.05). NW contributed to the implementation of occupational performance, daily living activities, and functional balance. We recommend that NW could be used in the rehabilitation program to engage play-based activities with fun.

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

    DEFF Research Database (Denmark)

    Rohlin, A; Engwall, Y; Fritzell, K

    2011-01-01

    inactivation of promoter 1B is disease causing in FAP; (ii) expression of transcripts from promoter 1B is generated at considerable higher levels compared with 1A, demonstrating a hitherto unknown importance of 1B; (iii) adenoma formation in FAP, caused by impaired function of promoter 1B, does not require......Familial adenomatous polyposis (FAP) is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Two promoters, 1A and 1B, have been recognized in APC, and 1B is thought to have a minor role in the regulation of the gene. We have identified a novel deletion encompassing half...... of this promoter in the largest family (Family 1) of the Swedish Polyposis Registry. The mutation leads to an imbalance in allele-specific expression of APC, and transcription from promoter 1B was highly impaired in both normal colorectal mucosa and blood from mutation carriers. To establish the significance...

  8. 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)

  9. 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.

  10. 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

  11. 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.

  12. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

    Science.gov (United States)

    Bolz, H; von Brederlow, B; Ramírez, A; Bryda, E C; Kutsche, K; Nothwang, H G; Seeliger, M; del C-Salcedó Cabrera, M; Vila, M C; Molina, O P; Gal, A; Kubisch, C

    2001-01-01

    Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss, vestibular dysfunction and visual impairment due to early onset retinitis pigmentosa (RP). So far, six loci (USH1A-USH1F) have been mapped, but only two USH1 genes have been identified: MYO7A for USH1B and the gene encoding harmonin for USH1C. We identified a Cuban pedigree linked to the locus for Usher syndrome type 1D (MIM 601067) within the q2 region of chromosome 10). Affected individuals present with congenital deafness and a highly variable degree of retinal degeneration. Using a positional candidate approach, we identified a new member of the cadherin gene superfamily, CDH23. It encodes a protein of 3,354 amino acids with a single transmembrane domain and 27 cadherin repeats. In the Cuban family, we detected two different mutations: a severe course of the retinal disease was observed in individuals homozygous for what is probably a truncating splice-site mutation (c.4488G-->C), whereas mild RP is present in individuals carrying the homozygous missense mutation R1746Q. A variable expression of the retinal phenotype was seen in patients with a combination of both mutations. In addition, we identified two mutations, Delta M1281 and IVS51+5G-->A, in a German USH1 patient. Our data show that different mutations in CDH23 result in USH1D with a variable retinal phenotype. In an accompanying paper, it is shown that mutations in the mouse ortholog cause disorganization of inner ear stereocilia and deafness in the waltzer mouse.

  13. 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.

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

    Science.gov (United States)

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

    2015-03-01

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

  15. 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...

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

    Directory of Open Access Journals (Sweden)

    Harsheen Kaur

    2016-01-01

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

  17. 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.

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

    DEFF Research Database (Denmark)

    Xiao, Cuiying; Zhang, Sizhong; Wang, Jun

    2003-01-01

    . The distinctive radiological signs and the X-linked mode of inheritance make it easy to diagnose. Here a four-generation Chinese SEDT family has been analyzed and the disease-causing mutation has been found. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA...... sequencing, a previously unreported deletion of T in exon 5 of SEDL gene (i.e. 293delT) was observed and seven individuals in the family carried the mutation. It results in frameshift and a putative truncated protein with the 97 N-terminal amino acids, and 9 changed amino acids. Therefore, loss of function...

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

    Directory of Open Access Journals (Sweden)

    Marco Ceccanti

    2016-11-01

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

  20. 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.

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

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    Jovana Malešević

    2016-06-01

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

  2. 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…

  3. A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family

    NARCIS (Netherlands)

    Siddiqi, S.; Ismail, M.; Oostrik, J.; Munawar, S.; Mansoor, A.; Kremer, H.; Qamar, R.; Schraders, M.

    2014-01-01

    With homozygosity mapping we have identified two large homozygous regions on chromosome 3q13.11-q13.31 and chromosome 19p13.3-q31.32 in a large Pakistani family suffering from autosomal recessive nonsyndromic hearing impairment (arNSHI). The region on chromosome 19 overlaps with the previously

  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. 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.

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

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    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.

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

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    Evgeny A Glazov

    2011-03-01

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

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

    Science.gov (United States)

    Saleha, Shamim; Ajmal, Muhammad; Jamil, Muhammad; Nasir, Muhammad; Hameed, Abdul

    2016-01-01

    To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation. 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. 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. 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.

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

    OpenAIRE

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

    2011-01-01

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

  12. Rh(D) fraction incompatibility causing hemolytic disease of the newborn. Report of two cases in a Chinese family.

    Science.gov (United States)

    Lee, S K; Tham, K T; Cheung, K P; Jenkins, W J

    1982-07-01

    Two cases of hemolytic disease of new born in a Chinese family are reported. The hemolysis was due to the production in the mother of antibodies against fractions A, C, and D of Rh(D) antigen. The fractions were absent in the mother's red blood cells which are Rh(DB) but present in her babies. Rh(DB) may be detected by the use of two types of anti-D sera, one with and the other without anti-DB activity. For transfusion purpose, all DB patients so tested, would be regarded as Rh(D) negative.

  13. 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...

  14. [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 PBobath therapy effectively relieves hemiplegic spasticity in the patients of cerebral infarction and improves the motor function of extremity and the activity of daily life.

  15. Frameshift mutation in the APOA5 gene causing hypertriglyceridemia in a Pakistani family: Management and considerations for cardiovascular risk.

    Science.gov (United States)

    Thériault, Sébastien; Don-Wauchope, Andrew; Chong, Michael; Lali, Ricky; Morrison, Katherine M; Paré, Guillaume

    2016-01-01

    We report a novel homozygous apolipoprotein A5 (APOA5) frameshift mutation (c.G425del-C, p.Arg143AlafsTer57) identified in a 12-year-old boy of Pakistani origin with severe hypertriglyceridemia (up to 35 mmol/L) and type V hyperlipoproteinemia. The patient did not respond to fibrate therapy, but his condition improved under a very low fat diet, although compliance was suboptimal. Heterozygous status was detected in both parents (consanguineous union) and one sibling, all showing moderate hypertriglyceridemia (between 5 and 10 mmol/L). There was a significant family history of premature cardiovascular disease. The index case was also diagnosed with a coronary artery anomaly. Considering the recently reported association of rare mutations in APOA5 with the risk of early myocardial infarction, we discuss the implications of these findings for the young man and his family. Copyright © 2016 National Lipid Association. Published by Elsevier Inc. All rights reserved.

  16. A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family.

    Science.gov (United States)

    Torkamandi, Shahram; Gholami, Milad; Mohammadi-Asl, Javad; Rezaie, Somaye; Zaimy, Mohammad Ali; Omrani, Mir Davood

    2016-01-01

    Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. The phenotype of HED is associated with mutation in EDA, EDAR, EDARADD and NEMO genes, all of them disruptingNF-κB signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. Here we describe a novel acceptor splice site mutation c.730-2 A>G(IVS 8-2 A>G) in EDAR gene in homozygous form in all affected members of a family,and in heterozygous form in carriers. Bioinformatics analysis showed that this mutation can create a new broken splicing site and lead to aberrant splicing.

  17. 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.

  18. Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family.

    Science.gov (United States)

    Niepokój, Katarzyna; Rygiel, Agnieszka M; Jurczak, Piotr; Kujko, Aleksandra A; Śniegórska, Dominika; Sawicka, Justyna; Grabarczyk, Alicja; Bal, Jerzy; Wertheim-Tysarowska, Katarzyna

    2018-02-01

    Usher syndrome is rare genetic disorder impairing two human senses, hearing and vision, with the characteristic late onset of vision loss. This syndrome is divided into three types. In all cases, the vision loss is postlingual, while loss of hearing is usually prelingual. The vestibular functions may also be disturbed in Usher type 1 and sometimes in type 3. Vestibular areflexia is helpful in making a proper diagnosis of the syndrome, but, often, the syndrome is misdiagnosed as a nonsyndromic hearing loss. Here, we present a Polish family with hearing loss, which was clinically classified as nonsyndromic. After excluding mutations in the DFNB1 locus, we implemented the next-generation sequencing method and revealed that hearing loss was syndromic and mutations in the USH2A gene indicate Usher syndrome. This research highlights the importance of molecular analysis in establishing a clinical diagnosis of congenital hearing loss.

  19. 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.

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

    Directory of Open Access Journals (Sweden)

    Cheema Abdul

    2008-11-01

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

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

    Directory of Open Access Journals (Sweden)

    Lise Bols Toustrup

    2017-03-01

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

  2. Work Ethic: Materialism and the American Family. Hearing before the Subcommittee on Aging, Family and Human Services of the Committee on Labor and Human Resources, United States Senate, Ninety-Seventh Congress, Second Session on Examination on the Impact of Stress on the Family Caused by the Workplace, Focusing on Dual Wage-Earning Parents and the Effects on Family Relationships, and the Nonworking Recipient of Public Assistance.

    Science.gov (United States)

    Congress of the U.S., Washington, DC. Senate Committee on Labor and Human Resources.

    This congressional hearing contains testimony pertinent to the impact of stress on the American family caused by the workplace. Focus of the hearing is on dual wage-earning parents and the effects on family relationships as well as on non-working recipients of public assistance. The following agencies and organizations were among those represented…

  3. Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.

    Science.gov (United States)

    Zobor, Ditta; Balousha, Ghassan; Baumann, Britta; Wissinger, Bernd

    2014-01-01

    Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal degenerations caused by mutations in at least 45 genes. Recently, the FAM161A gene was identified as the causative gene for RP28, an autosomal recessive form of RP. We performed a clinical and molecular genetic study of a consanguineous Palestinian family with two three siblings affected with retinitis pigmentosa. DNA samples were collected from the index patient, his father, his affected sister, and two non-affected brothers. DNA sample from the index was subjected to high resolution genome-wide SNP array. Assuming identity-by-descent in this consanguineous family we applied homozygosity mapping to identify disease causing genes. The index patient reported night blindness since the age of 20 years, followed by moderate disease progression with decrease of peripheral vision, the development of photophobia and later on reduced central vision. At the age of 40 his visual acuity was counting fingers (CF) for both eyes, color discrimination was not possible and his visual fields were severely constricted. Funduscopic examination revealed a typical appearance of advanced RP with optic disc pallor, narrowed retinal vessels, bone-spicule like pigmentary changes in the mid-periphery and atrophic changes in the macula. His younger affected brother (37 years) was reported with overall milder symptoms, while the youngest sister (21 years) reported problems only with night vision. Applying high-density SNP arrays we identified several homozygous genomic regions one of which included the recently identified FAM161A gene mutated in RP28-linked autosomal recessive RP. Sequencing analysis revealed the presence of a novel homozygous nonsense mutation, c.1003C>T/p.R335X in the index patient and the affected sister. We identified an RP28-linked RP family in the Palestinian population caused by a novel nonsense mutation in FAM161A. RP in this family shows a typical disease onset with moderate to rapid progression

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

    Science.gov (United States)

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

    2017-01-01

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

  5. A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.

    Science.gov (United States)

    Li, Xuefu; Jiang, Miao; Han, Weitian; Zhao, Ning; Liu, Wei; Sui, Yu; Lu, Yongping; Li, Jianxin

    2013-09-25

    Distal arthrogryposes (DAs), a clinically and genetically heterogeneous group of disorders characterized by congenital contractures with predominant involvement of the hands and feet, can be classified into at least 12 different forms. These autosomal dominant disorders are of variable expressivity and reduced penetrance. Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700). However, mutations causing FSS have only been reported in MYH3. Herein we describe a Chinese DA family whose members meet classical strict criteria for FSS, as well as one member of the family who has isolated facial features consistent with FSS. No disease-causing mutation was found in MYH3. Segregation of microsatellite markers flanking the TNNI2 and TNNT3 genes at 11p15.5 was compatible with linkage. Subsequent sequencing of TNNI2 revealed a novel mutation, c.A493T (p.I165F), located in the C-terminal region, which is critical for proper protein function. This mutation was found to cosegregate with the FSS phenotype in this family, and assessment using SIFT and PolyPhen-2 predicted a damaging effect. To the best of our knowledge, we report the first TNNI2 mutation in classical FSS and describe an atypical adult FSS case with only facial contractures resulting from somatic mosaicism. We infer that DA1, DA2B and FSS represent a phenotypic continuum of the same disorder and provide further genetic evidence for this hypothesis. © 2013.

  6. Short- and long-term effects of synchronized metronome training in children with hemiplegic cerebral palsy: a two case study.

    Science.gov (United States)

    Johansson, Anna-Maria; Domellöf, Erik; Rönnqvist, Louise

    2012-01-01

    Children with cerebral palsy (CP) require individualized long-term management to maintain and improve motor functions. The objective of this study was to explore potential effects of synchronized metronome training (SMT) on movement kinematics in two children diagnosed with spastic hemiplegic CP (HCP). Both children underwent 4-weeks/12 sessions of SMT by means of the Interactive Metronome (IM). Optoelectronic registrations of goal-directed uni- and bimanual upper-limb movements were made at three occasions; pre-training, post completed training and at 6-months post completed training. Significant changes in kinematic outcomes following IM training were found for both cases. Findings included smoother and shorter movement trajectories in the bimanual condition, especially for the affected side. In the unimanual condition, Case I also showed increased smoothness of the non-affected side. The observed short- and long-term effects on the spatio-temporal organization of upper-limb movements need to be corroborated and extended by further case-control studies.

  7. 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.

  8. 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.

  9. Upper limb training using Wii Sports Resort for children with hemiplegic cerebral palsy: a randomized, single-blind trial.

    Science.gov (United States)

    Chiu, Hsiu-Ching; Ada, Louise; Lee, Hsin-Min

    2014-10-01

    To investigate whether Wii Sports Resort training is effective and if any benefits are maintained. Randomized, single-blind trial. Sixty-two hemiplegic children with cerebral palsy (6-13 years). Experimental group undertook six weeks of home-based Wii Sports Resort training plus usual therapy, while the control group received usual therapy. Outcomes were coordination, strength, hand function, and carers' perception of hand function, measured at baseline, six, and 12 weeks by a blinded assessor. There was a trend of mean difference (MD) for the experimental group to have more grip strength by six (MD 4.0 N, 95% confidence interval (CI) -0.8 to 8.8, p = 0.10) and 12 (MD 4.1 N, 95% CI -2.1 to 10.3, p = 0.19) weeks, and to have a higher quantity of hand function according to carers' perception by six (MD 4.5 N, 95% CI -0.7 to 9.7, p = 0.09) and strengthened by 12 (MD 6.4, 95% CI 0.6 to 12.3, p = 0.03) weeks than the control group. There was no difference between groups in coordination and hand function by six or 12 weeks. Wii training did not improve coordination, strength, or hand function. Beyond the intervention, carers perceived that the children used their hands more. © The Author(s) 2014.

  10. 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

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

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    Mohammad Al-Haggar

    2011-01-01

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

  12. A large inversion in the linear chromosome of Streptomyces griseus caused by replicative transposition of a new Tn3 family transposon.

    Science.gov (United States)

    Murata, M; Uchida, T; Yang, Y; Lezhava, A; Kinashi, H

    2011-04-01

    We have comprehensively analyzed the linear chromosomes of Streptomyces griseus mutants constructed and kept in our laboratory. During this study, macrorestriction analysis of AseI and DraI fragments of mutant 402-2 suggested a large chromosomal inversion. The junctions of chromosomal inversion were cloned and sequenced and compared with the corresponding target sequences in the parent strain 2247. Consequently, a transposon-involved mechanism was revealed. Namely, a transposon originally located at the left target site was replicatively transposed to the right target site in an inverted direction, which generated a second copy and at the same time caused a 2.5-Mb chromosomal inversion. The involved transposon named TnSGR was grouped into a new subfamily of the resolvase-encoding Tn3 family transposons based on its gene organization. At the end, terminal diversity of S. griseus chromosomes is discussed by comparing the sequences of strains 2247 and IFO13350.

  13. Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family

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    Yaser Mohammad Alkhiary

    2016-09-01

    Full Text Available Papillon–Lefevre syndrome (PALS is a rare, autosomal recessive disorder characterized by periodontitis and hyperkeratosis over the palms and soles. Mutations in the cathepsin C gene (CTSC have been recognized as the cause of PALS since the late 1990s. More than 75 mutations in CTSC have been identified, and phenotypic variability between different mutations has been described. Next generation sequencing is widely used for efficient molecular diagnostics in various clinical practices. Here we investigated a large consanguineous Saudi family with four affected and four unaffected individuals. All of the affected individuals suffered from hyperkeratosis over the palms and soles and had anomalies of both primary and secondary dentition. For molecular diagnostics, we combined whole-exome sequencing and genome-wide homozygosity mapping procedures, and identified a recurrent homozygous missense mutation (c.899G>A; p.Gly300Asp in exon 7 of CTSC. Validation of all eight family members by Sanger sequencing confirmed co-segregation of the pathogenic variant (c.899G>A with the disease phenotype. This is the first report of whole-exome sequencing performed for molecular diagnosis of PALS in Saudi Arabia. Our findings provide further insights into the genotype–phenotype correlation of CTSC pathogenicity in PALS.

  14. Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation

    Science.gov (United States)

    Hoppmann, Julia; Gesing, Julia; Silve, Caroline; Leroy, Chrystel; Bertsche, Astrid; Hirsch, Franz Wolfgang; Kiess, Wieland; Pfäffle, Roland; Schuster, Volker

    2017-01-01

    Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in protein kinase type 1-α regulatory subunit and acrodysostosis type 2 caused by mutations in phosphodiesterase 4D (PDE4D). Most cases are sporadic. We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation. A 3.5-year-old boy presented with short stature, midfacial hypoplasia, severe brachydactyly, developmental delay, and behavioural problems. Laboratory investigations revealed mild thyrotropin resistance. His mother shared some characteristic features, such as midfacial hypoplasia and severe brachydactyly, but did not show short stature, intellectual disability or hormonal resistance. Genetic analysis identified the identical, novel heterozygous missense mutation of the PDE4D gene c.569C>T (p.Ser190Phe) in both patients. This case illustrates the significant phenotypic variability of acrodysostosis even within one family with identical mutations. Hence, a specific clinical diagnosis of acrodysostosis remains challenging because of great interindividual variability and a substantial overlap of the two subtypes as well as with other related Gsα-cAMP-signalling-linked disorders. PMID:28515031

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

    DEFF Research Database (Denmark)

    Rohlin, A; Engwall, Y; Fritzell, K

    2011-01-01

    Familial adenomatous polyposis (FAP) is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Two promoters, 1A and 1B, have been recognized in APC, and 1B is thought to have a minor role in the regulation of the gene. We have identified a novel deletion encompassing half of ...... homozygous inactivation of APC allowing for alternative genetic models as basis for adenoma formation.Oncogene advance online publication, 6 June 2011; doi:10.1038/onc.2011.201....... in a panel of 20 various normal tissues examined. In FAP-related tumors, the APC germline mutation is proposed to dictate the second hit. Mutations leaving two or three out of seven 20-amino-acid repeats in the central domain of APC intact seem to be required for tumorigenesis. We examined adenomas from...... mutation carriers in Family 1 for second hits in the entire gene without any findings, however, loss of the residual expression of the deleterious allele was observed. Three major conclusions of significant importance in relation to the function of APC can be drawn from this study; (i) germline...

  16. Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.

    Science.gov (United States)

    Gurbuz, F; Desai, S; Diao, F; Turkkahraman, D; Wranitz, F; Wood-Trageser, M; Shin, Y-H; Kotan, L D; Jiang, H; Witchel, S; Gurtunca, N; Yatsenko, S; Mysliwec, D; Topaloglu, K; Rajkovic, A

    2018-04-01

    Loss-of-function DCAF17 variants cause hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness with variable clinical presentation. DCAF17 pathogenic variants have been largely reported in the Middle Eastern populations, but the incidence in American families is rare and animal models are lacking. Exome sequencing in 5 women with syndromic hypergonadotropic hypogonadism from 2 unrelated families revealed novel pathogenic variants in the DCAF17 gene. DCAF17 exon 2 (c.127-1G > C) novel homozygous variants were discovered in 4 Turkish siblings, while 1 American was compound heterozygous for 1-stop gain variant in exon 5 (c.C535T; p.Gln179*) and previously described stop gain variant in exon 9 (c.G906A; p.Trp302*). A mouse model mimicking loss of function in exon 2 of Dcaf17 was generated using CRISPR/Cas9 and showed female subfertility and male infertility. Our results identify 2 novel variants, and show that Dcaf17 plays a significant role in mammalian gonadal development and infertility. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. [Asymmetries in dynamic plantar pressure distribution measurement in able-bodied gait: application to the study of the gait asymmetries in children with hemiplegic cerebral palsy].

    Science.gov (United States)

    Femery, V; Moretto, P; Renaut, H; Lensel, G; Thevenon, A

    2002-03-01

    The aim of this study was to analyse, firstly, the plantar pressure distribution in healthy subjects in order to validate or invalidate the previous studies results on the asymmetrical profile of the stance phase. The studies of asymmetries was based on the identification of a propulsive foot and a loading foot from a concept introduced by Viel. Secondly, the approach was applied to the study of gait asymmetries in two children with hemiplegic cerebral plasy. Thirty healthy control subjects and two hemiplegic children (H1 and H2) performed a walking test at self selected speed. The recordings of dynamic parameters were realized thanks to an in-shoe plantar pressure analysis system (Parotec, by Paromed Medizintechnik, GMBH, Germany). The pressure peaks were determined from the recording of pressures under eight footprint locations. A program calculated the sum of forces under the heel and determined the loading foot. By defect, the second foot is the propulsive foot. The asymmetrical profile of the human normal stance phase was validated. Under the heel, the pressure peaks lower by 28 % were noticed beneath the loading foot compared to the propulsive foot. Inversely, under the metatarsal heads and the hallux, the pressure peaks were greater by 32 % beneath the propulsive foot. For the two hemiplegic children, the plantar pressure profile equally highlighted significant differences between the unaffected and affected feet. The pressure peaks under the affected heel were respectively lower by 21 % and 97 % for H1 and H2. The loading function was found and associated to the affected limb. The propulsive function was not systematically found under the unaffected foot. The analysis of plantar pressure measurements during able-bodied gait showed differences between the two lower limbs. These dynamic asymmetries are the results of a natural functional organization of the supports differentiating a loading foot and a propulsive foot and corroborating the concept proposed by

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

    OpenAIRE

    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

    2016-01-01

    [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 t...

  19. 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.

  20. 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.

  1. 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

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

    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.

  3. 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.

  4. 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.

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

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    Jia-Ze Tan

    2016-01-01

    Conclusions: We reported a SCCMS family of Chinese origin. In the family, classical clinical phenotype with phenotypic variability among different members was found. Genetic testing could help diagnose this rare disease.

  6. A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family

    DEFF Research Database (Denmark)

    Abdullah, Uzma; Farooq, Muhammad; Mang, Yuan

    2017-01-01

    2 mutations is still under explored as only eleven families have been reported worldwide. Here, we analyzed a consanguineous Pakistani MCPH family, characterized by moderate to severe intellectual disability, speech impairment, moderately short stature and sparse eyebrows. Whole exome sequencing...

  7. 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

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    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.

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

    Directory of Open Access Journals (Sweden)

    Paul Guéguen

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

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

    DEFF Research Database (Denmark)

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

    2009-01-01

    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...

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

    OpenAIRE

    Shamim Saleha; Muhammad Ajmal; Muhammad Jamil

    2016-01-01

    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...

  11. Familial dysautonomia

    Science.gov (United States)

    ... condition. FD occurs most often in people of Eastern European Jewish ancestry (Ashkenazi Jews). It is caused ... also be used for prenatal diagnosis. People of Eastern European Jewish background and families with a history ...

  12. Clinical and radiological characteristics of hemiplegic arm raising related to yawning in stroke patient

    Directory of Open Access Journals (Sweden)

    Jian-yong LI

    2018-03-01

    Full Text Available Objective To investigate the clinical and radiological characteristics of parakinesia brachialis oscitans (PBD related to yawning in stroke patient and its mechanism. Methods We reported 4 patients with involuntary raising of the paralyzed limbs when yawning in neurological unit of Hainan Branch of Chinese PLA General Hospital, and analyzed their clinical characteristics together with published cases in literatures. Results In this group of stroke patients, when they yawned, their paralyzed upper limb could lift upward involuntarily. Totally 22 patients with ischemic (n=20 and hemorrhagic (n=2 stroke were enrolled. Brain imaging showed infarcts in the middle cerebral artery (MCA in 17 patients and in the brain stem in 5 patients. This phenomenon occurred 4 hours to 4 months (14.57±31.66d after stroke onset, and lasted from 1 week to 3 years (6.70±11.66 months. Corticobulbar tract and pyramidal tract were both damaged in these 22 patients. The mechanism might be that after corticobulbar tract and pyramidal tract damaged, their dominant role in the cranial nerve nuclei of the brainstem and the anterior horn cells of the spinal cord disappeared, and the projection of oxytocinergic neurons from paraventricular nucleus functions, thus causing yawning and muscle contraction. Conclusion PBO may be a rare phenomenon of abnormal movement after stroke. This phenomenon indicates damaging of pyramidal tract, and PBO disappears gradually with the recovery of pyramidal tract function. DOI: 10.11855/j.issn.0577-7402.2018.03.09

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

    Directory of Open Access Journals (Sweden)

    Paula Dietrich

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

  14. Jamaican families.

    Science.gov (United States)

    Miner, Dianne Cooney

    2003-01-01

    The study of the family in the Caribbean originated with European scholars who assumed the universality of the patriarchal nuclear family and the primacy of this structure to the healthy functioning of society. Matrifocal Caribbean families thus were seen as chaotic and disorganized and inadequate to perform the essential tasks of the social system. This article provides a more current discussion of the Jamaican family. It argues that its structure is the result of the agency and adaptation of its members and not the root cause of the increasing marginalization of peoples in the developing world. The article focuses on families living in poverty and how the family structure supports essential family functions, adaptations, and survival.

  15. 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.

  16. 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

  17. 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.

  18. Focal Dystonia in Hemiplegic Upper Limb: Favorable Effect of Cervical Microsurgical DREZotomy Involving the Ventral Horn - A Report of 3 Patients.

    Science.gov (United States)

    Sindou, Marc; Georgoulis, George

    2016-01-01

    Focal dystonia in hemiplegic upper limbs is poorly responsive to medications or classical neurosurgical treatments. Only repeated botulinum toxin injections show efficacy, but in most severe cases effects are transient. Cervical DREZ lesioning, which has proven efficacious in hyperspasticity when done deeply (3-5 mm) in the dorsal horn, may have favorable effects on the dystonic component when performed down to, and including, the base of the ventral horn (5-6 mm in depth). Three patients underwent deep cervical microsurgical DREZotomy (MDT) for focal dystonia in the upper limb. Hypertonia was reduced, and sustained dystonic postures were suppressed. Residual motor function (hidden behind hypertonia) came to the surface. Cervical MDT may be a useful armamentarium for treating refractory focal dystonia in the upper limb. © 2016 S. Karger AG, Basel.

  19. Maintained hand function and forearm bone health 14 months after an in-home virtual-reality videogame hand telerehabilitation intervention in an adolescent with hemiplegic cerebral palsy.

    Science.gov (United States)

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

    2011-03-01

    Virtual reality videogames can be used to motivate rehabilitation, and telerehabilitation can be used to improve access to rehabilitation. These uses of technology to improve health outcomes are a burgeoning area of rehabilitation research. So far, there is a lack of reports of long-term outcomes of these types of interventions. The authors report a 15-year-old boy with hemiplegic cerebral palsy and epilepsy because of presumed perinatal stroke who improved his plegic hand function and increased his plegic forearm bone health during a 14-month virtual reality videogame hand telerehabilitation intervention. A total of 14 months after the intervention ended, repeat evaluation demonstrated maintenance of both increased hand function and forearm bone health. The implications of this work for the future of rehabilitation in children with neurological disabilities are discussed in this article.

  20. 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.

  1. 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

  2. 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

  3. [Clinical findings in members of a Czech family with retinitis pigmentosa caused by the c.2426_2427delAG mutation in RPGR].

    Science.gov (United States)

    Kousal, B; Skalická, P; Diblík, P; Kuthan, P; Langrová, H; Lišková, P

    2013-03-01

    To describe the phenotype of members of the first Czech retinitis pigmentosa family with an identified molecular genetic cause (c.2426_2427delAG in RPGR), followed for more than 13 years. Medical records were reviewed and a detailed ophthalmic examination including spectral-domain optical coherence tomography and full-field and multifocal electroretinography (ERG) was performed in two affected males, three female carriers and one unaffected female. A 22-year-old male who denied suffering from nyctalopia had a best corrected visual acuity (BCVA) of 0.63 in both eyes. Moderate myopia and myopic astigmatism were present bilaterally. Color vision and contrast sensitivity were normal. There was an eccentric constriction of the visual fields that spared the central 20 degrees in both eyes. Fundus examination revealed bilateral pigmentary changes in the mid-periphery. Full-field ERG documented a 10% rod and 20% cone response. The phenotype of his cousin, also aged 22 years, was more severe. He complained of nyctalopia since 12 years of age. His BCVA was 0.3 in the right eye and 0.5 in the left eye. Myopia and astigmatism were present bilaterally. Contrast sensitivity and color vision were severely impaired. Full field ERG was extinct, but some activity on multifocal ERG was still detectable. The constriction of the visual fields reached 5 degrees in both eyes. Fundus examination showed the typical retinitis pigmentosa appearance. All carriers denied that they suffered from nyctalopia, but two of them had decreased BCVA in at least one eye. None exhibited typical bone spicules or a tapetal-like reflex. Significant refractive errors were present in all eyes of the carriers. The finding of moderate or high myopia and astigmatism in males with retinitis pigmentosa as well as refractive errors in female relatives indicates possible X-linked inheritance, which may be especially important in pedigrees where the transmission pattern can not be clearly established. Our study

  4. 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.

  5. Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families.

    Science.gov (United States)

    Gormley, Padhraig; Kurki, Mitja I; Hiekkala, Marjo Eveliina; Veerapen, Kumar; Häppölä, Paavo; Mitchell, Adele A; Lal, Dennis; Palta, Priit; Surakka, Ida; Kaunisto, Mari Anneli; Hämäläinen, Eija; Vepsäläinen, Salli; Havanka, Hannele; Harno, Hanna; Ilmavirta, Matti; Nissilä, Markku; Säkö, Erkki; Sumelahti, Marja-Liisa; Liukkonen, Jarmo; Sillanpää, Matti; Metsähonkala, Liisa; Koskinen, Seppo; Lehtimäki, Terho; Raitakari, Olli; Männikkö, Minna; Ran, Caroline; Belin, Andrea Carmine; Jousilahti, Pekka; Anttila, Verneri; Salomaa, Veikko; Artto, Ville; Färkkilä, Markus; Runz, Heiko; Daly, Mark J; Neale, Benjamin M; Ripatti, Samuli; Kallela, Mikko; Wessman, Maija; Palotie, Aarno

    2018-05-16

    Complex traits, including migraine, often aggregate in families, but the underlying genetic architecture behind this is not well understood. The aggregation could be explained by rare, penetrant variants that segregate according to Mendelian inheritance or by the sufficient polygenic accumulation of common variants, each with an individually small effect, or a combination of the two hypotheses. In 8,319 individuals across 1,589 migraine families, we calculated migraine polygenic risk scores (PRS) and found a significantly higher common variant burden in familial cases (n = 5,317, OR = 1.76, 95% CI = 1.71-1.81, p = 1.7 × 10 -109 ) compared to population cases from the FINRISK cohort (n = 1,101, OR = 1.32, 95% CI = 1.25-1.38, p = 7.2 × 10 -17 ). The PRS explained 1.6% of the phenotypic variance in the population cases and 3.5% in the familial cases (including 2.9% for migraine without aura, 5.5% for migraine with typical aura, and 8.2% for hemiplegic migraine). The results demonstrate a significant contribution of common polygenic variation to the familial aggregation of migraine. Copyright © 2018 Elsevier Inc. All rights reserved.

  6. 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

  7. A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

    Directory of Open Access Journals (Sweden)

    Wang Xiaoqin

    2007-12-01

    Full Text Available Abstract Background Cleidocranial dysplasia (CCD is a dominantly inherited disease characterized by hypoplastic or absent clavicles, large fontanels, dental dysplasia, and delayed skeletal development. The purpose of this study is to investigate the genetic basis of Chinese family with CCD. Methods Here, a large Chinese family with CCD and hyperplastic nails was recruited. The clinical features displayed a significant intrafamilial variation. We sequenced the coding region of the RUNX2 gene for the mutation and phenotype analysis. Results The family carries a c.T407C (p.L136P mutation in the DNA- and CBFβ-binding Runt domain of RUNX2. Based on the crystal structure, we predict this novel missense mutation is likely to disrupt DNA binding by RUNX2, and at least locally affect the Runt domain structure. Conclusion A novel missense mutation was identified in a large Chinese family with CCD with hyperplastic nails. This report further extends the mutation spectrum and clinical features of CCD. The identification of this mutation will facilitate prenatal diagnosis and preimplantation genetic diagnosis.

  8. Intelligence and all-cause mortality in the 6-Day Sample of the Scottish Mental Survey 1947 and their siblings: testing the contribution of family background.

    Science.gov (United States)

    Iveson, Matthew H; Cukic, Iva; Der, Geoff; Batty, G David; Deary, Ian J

    2018-02-01

    Higher early-life intelligence is associated with a reduced risk of mortality in adulthood, though this association is apparently hardly attenuated when accounting for early-life socio-economic status (SES). However, the use of proxy measures of SES means that residual confounding may underestimate this attenuation. In the present study, the potential confounding effect of early-life SES was instead accounted for by examining the intelligence-mortality association within families. The association between early-life intelligence and mortality in adulthood was assessed in 727 members of the 6-Day Sample of the Scottish Mental Survey 1947 and, for the first time, 1580 of their younger siblings. These individuals were born between 1936 and 1958, and were followed up into later life, with deaths recorded up to 2015. Cox regression was used to estimate the relative risk of mortality associated with higher IQ scores after adjusting for shared family factors. A standard-deviation advantage in IQ score was associated with a significantly reduced mortality risk [hazard ratio = 0.76, p family factors [hazard ratio = 0.79, p = 0.002, 95% CI (0.68-0.92)]. Although somewhat conservative, adjusting for all variance shared by a family avoids any potential residual confounding of the intelligence-mortality association arising from the use of proxy measures of early-life SES. The present study demonstrates that the longevity associated with higher early-life intelligence cannot be explained by early-life SES or within-family factors. © The Author 2017; Published by Oxford University Press on behalf of the International Epidemiological Association

  9. 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.

  10. 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.

  11. 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.

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

    International Nuclear Information System (INIS)

    Ritchie, H.H.; Hughes, M.R.; Thompson, E.T.; Pike, J.W.; O'Malley, B.W.; Malloy, P.J.; Feldman, D.; Hochberg, Z.

    1989-01-01

    Hereditary 1,25-dihydroxyvitamin D 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 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 → 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-[ 3 H]dihydroxyvitamin D 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 3 -resistant rickets

  13. 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.

  14. 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.

  15. 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.

  16. 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

  17. Impact of the difference in the plantar flexor strength of the ankle joint in the affected side among hemiplegic patients on the plantar pressure and walking asymmetry.

    Science.gov (United States)

    You, Young Youl; Chung, Sin Ho; Lee, Hyung Jin

    2016-11-01

    [Purpose] This study was to examine the changes in the gait lines and plantar pressures in static and dynamic circumstances, according to the differences in the strengths of the plantar flexors in the ankle joints on the affected sides of hemiplegic patients, and to determine their impacts on walking symmetry. [Subjects and Methods] A total of thirty hospitalized stroke patients suffering from hemiplegia were selected in this study. The subjects had ankylosing patterns in the ankle joints of the affected sides. Fifteen of the patients had plantar flexor manual muscle testing scores between poor and fair, while fifteen of the patients had zero and trace. [Results] The contact pattern of the plantar surface with the ground is a reliable method for walking analysis, which is an important index for understanding the ankle mechanism and the relationship between the plantar surface and the ground. [Conclusion] The functional improvement of patients with stroke could be supported through a verification of the analysis methods of the therapy strategy and walking pattern.

  18. Home-based Nintendo Wii training to improve upper-limb function in children ages 7 to 12 with spastic hemiplegic cerebral palsy.

    Science.gov (United States)

    Kassee, Caroline; Hunt, Carolyn; Holmes, Michael W R; Lloyd, Meghann

    2017-05-17

    This pilot study compared a Nintendo Wii intervention to single-joint resistance training for the upper limb in children ages 7 to 12 with spastic hemiplegic cerebral palsy (CP). Children were randomized to Wii training (n= 3), or resistance training (n= 3) and trained at home for 6 weeks. Pre, post and 4-week follow-up measures were collected. Outcome measures were the Melbourne Assessment (MA2), and ABILHAND-Kids, and grip strength. Compliance, motivation and feasibility of each intervention was explored using daily logbook responses and questionnaires. Descriptive statistics were used. Three children improved in the MA2, two of which were in the Wii training group. Improvements in the ABILHAND-Kids were minimal for all participants. Grip strength improvements were observed in 3 participants, two of which were in the resistance training group. The Wii training group reported higher compliance and more consistently positive responses to motivation and feasibility questions. Therefore, Wii training may be an effective home-based rehabilitation strategy, and is worth exploring in a larger trial. Implications of Wii training in the context of motivation theory are discussed.

  19. The effects of onabotulinum toxin A injection into rectus femoris muscle in hemiplegic stroke patients with stiff-knee gait: a placebo-controlled, nonrandomized trial.

    Science.gov (United States)

    Tok, Fatih; Balaban, Birol; Yaşar, Evren; Alaca, Rdvan; Tan, Arif Kenan

    2012-04-01

    This study aimed to compare the efficacy of onabotulinum toxin A (onabot) injection into the rectus femoris muscle with that of placebo in the treatment of hemiplegic stroke patients presenting with stiff-knee gait. Twenty-five chronic hemiparetic stroke patients presenting with a stiff-knee gait were included in this study. Fifteen patients received 100-125 U of onabot, and 10 patients received placebo into the rectus femoris muscle. Three-dimensional gait analysis, energy expenditure, 10-m and 6-min walk tests, and spasticity level of the rectus femoris were evaluated at baseline and 2 mos posttreatment. The mean age of patients who received onabot was 53.86 ± 14.74 yrs and of those who received placebo was 59.00 ± 8.11 yrs. At study onset, groups were similar with respect to all parameters (P > 0.05). We observed significant improvement in knee flexion (7 degrees average) during swing and a reduction in energy cost of 0.8-J/kg per meter response to injection of 100-125 U of onabot into the rectus femoris muscle. Onabot treatment significantly reduced muscle tone and improved knee kinematics, energy expenditure during walking, and functional assessments at 2 mos (P application of onabot into the rectus femoris muscle in stroke patients who presented with stiff-knee gait may be a treatment option to provide independent, safe, and less tiring ambulation.

  20. 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

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

    OpenAIRE

    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 soft...

  2. Genetics Home Reference: familial candidiasis

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Familial candidiasis Familial candidiasis Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Familial candidiasis is an inherited tendency to develop infections caused ...

  3. 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

  4. Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation.

    Science.gov (United States)

    Cheng, Ruhong; Yan, Ming; Ni, Cheng; Zhang, Jia; Li, Ming; Yao, Zhirong

    2016-10-01

    Recently, homozygous mutations in the desmoglein-1 (DSG1) gene and heterozygous mutation in the desmoplakin (DSP) gene have been demonstrated to be associated with severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome (Mendelian Inheritance in Man no. 615508). We aim to identify the molecular basis for a Chinese pedigree of SAM syndrome. A Chinese pedigree of SAM syndrome was subjected to mutation detection in the DSG1 gene. Sequence analysis of the DSG1 gene and quantitative reverse transcriptase polymerase chain reaction analysis for gene expression of DSG1 using cDNA derived from the epidermis of patients and controls were both performed. Skin biopsies were also taken from patients for pathological study and transmission electron microscopy observation. Novel homozygous splicing mutation c.1892-1delG in the exon-intron border of the DSG1 gene has been demonstrated to be associated with SAM syndrome. We report a new family of SAM syndrome of Asian decent and expand the spectrum of mutations in the DSG1 gene. © 2016 Japanese Dermatological Association.

  5. 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

  6. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-09-01

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

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

    Directory of Open Access Journals (Sweden)

    Akanksha Singh

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

  9. 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 

  10. Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.

    Science.gov (United States)

    Schneider, Eberhard; Märker, Tina; Daser, Angelika; Frey-Mahn, Gabriele; Beyer, Vera; Farcas, Ruxandra; Schneider-Rätzke, Brigitte; Kohlschmidt, Nicolai; Grossmann, Bärbel; Bauss, Katharina; Napiontek, Ulrike; Keilmann, Annerose; Bartsch, Oliver; Zechner, Ulrich; Wolfrum, Uwe; Haaf, Thomas

    2009-02-15

    A homozygous reciprocal translocation, 46,XY,t(10;11),t(10;11), was detected in a boy with non-syndromic congenital sensorineural hearing impairment. Both parents and their four other children were heterozygous translocation carriers, 46,XX,t(10;11) and 46,XY,t(10;11), respectively. Fluorescence in situ hybridization of region-specific clones to patient chromosomes was used to localize the breakpoints within bacterial artificial chromosome (BAC) RP11-108L7 on chromosome 10q24.3 and within BAC CTD-2527F12 on chromosome 11q23.3. Junction fragments were cloned by vector ligation and sequenced. The chromosome 10 breakpoint was identified within the PDZ domain containing 7 (PDZD7) gene, disrupting the open reading frame of transcript PDZD7-C (without PDZ domain) and the 5'-untranslated region of transcript PDZD7-D (with one PDZ and two prolin-rich domains). The chromosome 11 breakpoint was localized in an intergenic segment. Reverse transcriptase-polymerase chain reaction analysis revealed PDZD7 expression in the human inner ear. A murine Pdzd7 transcript that is most similar in structure to human PDZD7-D is known to be expressed in the adult inner ear and retina. PDZD7 shares sequence homology with the PDZ domain-containing genes, USH1C (harmonin) and DFNB31 (whirlin). Allelic mutations in harmonin and whirlin can cause both Usher syndrome (USH1C and USH2D, respectively) and congenital hearing impairment (DFNB18 and DFNB31, respectively). Protein-protein interaction assays revealed the integration of PDZD7 in the protein network related to the human Usher syndrome. Collectively, our data provide strong evidence that PDZD7 is a new autosomal-recessive deafness-causing gene and also a prime candidate gene for Usher syndrome.

  11. Transplantation of motoneurons derived from MASH1-transfected mouse ES cells reconstitutes neural networks and improves motor function in hemiplegic mice.

    Science.gov (United States)

    Ikeda, Ritsuko; Kurokawa, Manae S; Chiba, Shunmei; Yoshikawa, Hideshi; Hashimoto, Takuo; Tadokoro, Mamoru; Suzuki, Noboru

    2004-10-01

    Mouse embryonic stem (ES) cells were transfected with a MASH1 expression vector and G418-resistant cells were selected. The MASH1-transfected cells became neuron-like appearance and expressed betaIIItubulin and panNCAM. Glial fibrillary acidic protein (GFAP) and galactocerebroside (GalC)-expressing cells were rarely detected. Half of the neural cells differentiated into the Islet1+ motoneuron lineage. Thus, we obtained motoneuron lineage-enriched neuronal cells by transfection of ES cells with MASH1. A hemiplegic model of mice was developed by cryogenic injury of the motor cortex, and motoneuron lineage-enriched neuronal cells were transplanted underneath the injured motor cortex neighboring the periventricular region. The motor function of the recipients was assessed by a beam walking and rotarod tests, whereby the results gradually improved, but little improvement was observed in vehicle injected control mice. We found that the grafted cells not only remained close to the implantation site, but also exhibited substantial migration, penetrating into the damaged lesion in a directed manner up to the cortical region. Grafted neuronal cells that had migrated into the cortex were elongated axon-positive for neurofilament middle chain (NFM). Synaptophysin immunostaining showed a positive staining pattern around the graft, suggesting that the transplanted neurons interacted with the recipient neurons to form a neural network. Our study suggests that the motoneuron lineage can be induced from ES cells, and grafted cells adapt to the host environment and can reconstitute a neural network to improve motor function of a paralyzed limb.

  12. Familial haemophagocytic lymphohistiocytosis: rare cause of acute ...

    African Journals Online (AJOL)

    Arun Kumar Agnihotri

    prolonged fever, cytopenias, and hepatosplenomegaly. We describe a .... a), interleukin (IL), interferon alpha (INF-a), giving rise to the ... The diagnosis HLH can be established if one of either 1 or 2 below of the following criteria are fulfilled: 1.

  13. [Family violence].

    Science.gov (United States)

    Manoudi, F; Chagh, R; Es-soussi, M; Asri, F; Tazi, I

    2013-09-01

    Family violence is a serious public health problem, the scale of which is seriously increasing in Morocco. Although it has existed for a long time, we ignore the real characteristics of this plague in our country; our work consisted in an epidemiological approach of family violence in Marrakech during 2006. After elaborating a questionnaire, which allows the study of the demographic and social profile of the families, the study of violence exercised in the family and the evaluation of the depression in the women, we led an inquiry amongst 265 women. Analysis of the results obtained has allowed us to underline the following characteristics: 16.6% of the women in our sample had been physically beaten; the young age is a risk factor; the age range most affected by violence is in women between the ages of 30 and 40 and which represent 39% of the battered women; domestic violence touches all the social, economic and cultural classes: in our study, 63% of the women having undergone violence were housewives, 25% were managers and 3% senior executives; family problems were the most important cause of violence in our study, representing 32.32%. Requests for money was the cause in 11.3% of the cases, and imposed sexual relations were found in 6.8% of the cases; alcoholism is an aggravating factor of family violence; 27.3% of the spouses who assaulted their wives were drunk; 52% of the assaulted women were victims of violence in childhood and 36% had been witness to their father's violence; in 63.6% of the cases of violence, the children were witnesses, and in 25% of the cases the children were victims of violence at the same time as their mothers; 50% of the women victims of violence did not react, while 38.6% left home, and 9.1 filed for divorce. Thirty-two percent of the assaulted woman had been traumatised by the aggression; the association of depression and violence was very high, 343% of the battered women in our study suffered from severe depression. This work

  14. Family and non-family business differences in Estonia

    Directory of Open Access Journals (Sweden)

    Maret Kirsipuu

    2014-01-01

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

  15. Family Therapy

    Science.gov (United States)

    Family therapy Overview Family therapy is a type of psychological counseling (psychotherapy) that can help family members improve communication and resolve conflicts. Family therapy is usually provided by a psychologist, ...

  16. 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...

  17. 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 cell envelope biogenesis, were constructed using the rgpG mutant. There were no major differences in growth rates between the wild-type strain and the rgpG brpA and rgpG psr double mutants, but the growth rate of the rgpG brpA psr triple mutant was reduced drastically ( P cells with multiple asymmetric septa. When analyzed by immunoblotting, the rgpG mutant displayed major reductions in cell wall antigens compared to the wild type, while little or no signal was detected with the double and triple mutants and the brpA and psr single mutants. These results suggest that RgpG in S. 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

  18. A retrospective case series of ultrasound-guided suprascapular nerve pulsed radiofrequency treatment for hemiplegic shoulder pain in patients with chronic stroke

    Directory of Open Access Journals (Sweden)

    Picelli A

    2018-06-01

    Full Text Available Alessandro Picelli,1,2 Davide Lobba,1 Patrizia Vendramin,3 Giuseppe Castellano,3 Elena Chemello,1 Vittorio Schweiger,4,5 Alvise Martini,4,5 Massimo Parolini,4,5 Marialuisa Gandolfi,1,2 Enrico Polati,4,5 Nicola Smania1,2 1Neuromotor and Cognitive Rehabilitation Research Center, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy; 2Neurorehabilitation Unit, Department of Neurosciences, Hospital Trust of Verona, Verona, Italy; 3Anesthesia, Intensive Care and Pain Therapy Unit, “Girolamo Fracastoro” Hospital, San Bonifacio, Italy; 4Anesthesia and Intensive Care Section, Department of Surgery, Dentistry, Pediatrics and Gynecology, University of Verona, Verona, Italy; 5Pain Therapy Center, Department of Emergency and Intensive Care, Hospital Trust of Verona, Verona, Italy Purpose: Hemiplegic shoulder pain (HSP is the most common pain condition after stroke. Pulsed radiofrequency (PRF treatment of the suprascapular nerve (SSN effectively relieves shoulder pain conditions. To date, there is no study about the effects of PRF treatment for HSP. Thus, our aim was to report on a case series about its use in chronic stroke. Patients and methods: Six chronic stroke patients with HSP (visual analog scale [VAS] score for pain ≥30 mm underwent ultrasound-guided SSN PRF treatment. All were evaluated before treatment and at 4 and 16 weeks of follow-up. The main outcome was VAS score. Secondary outcomes were Modified Ashworth Scale, shoulder passive range of motion (PROM, Disability Assessment Scale (DAS, Fugl-Meyer Assessment, and EuroQol-5 dimension questionnaire (EuroQol-5D scores. Results: As compared with baseline, improvement was observed in the following parameters: VAS for pain (at 4 weeks, P=0.023; at 16 weeks, P=0.023; shoulder PROM for abduction (at 4 weeks, P=0.023; at 16 weeks, P=0.024, flexion (at 4 and 16 weeks, P=0.024, extension (at 4 and 16 weeks, P=0.02, and external rotation (4 and 16

  19. Family Meals

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Family Meals KidsHealth / For Parents / Family Meals What's in ... even more important as kids get older. Making Family Meals Happen It can be a big challenge ...

  20. 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 ...

  1. 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 ...

  2. Family Issues

    Science.gov (United States)

    ... Some have two parents, while others have a single parent. Sometimes there is no parent and grandparents raise grandchildren. Some children live in foster families, adoptive families, or in stepfamilies. Families are much ...

  3. Family Disruptions

    Science.gov (United States)

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

  4. Familial polycystic ovarian disease.

    Science.gov (United States)

    Givens, J R

    1988-12-01

    Emphasis is placed on the heterogeneity of the phenotypic presentation of PCOD. It is the common expression of an unknown number of disorders and thus is a sign and not a specific diagnosis. Two essential features are arrested follicular maturation and atresia of follicles. Normal folliculogenesis is described, emphasizing that a large number of areas could be subject to derangement causing PCOD. Any interference of the finely balanced sequence of events can lead to PCOD. The genetic defect causing familial PCOD is unknown and the initiating event remains undefined. Three families are described that illustrate four features of familial PCOD. A number of associated disorders such as diabetes, hyperinsulinemia, obesity, and hypertension are described. The potential importance of agents that modulate the LH and FSH activity that may cause PCOD is emphasized. The theoretic means by which similar male and female gonadal abnormalities may be coupled in families through growth factors EGF and alpha TGF are presented.

  5. Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin.

    NARCIS (Netherlands)

    Boccalandro, C.; Mattia, F.P. de; Guo, D.C.; Xue, L.; Orlander, P.; King, T.M.; Gupta, P.; Deen, P.M.T.; Lavis, V.R.; Milewicz, D.M.

    2004-01-01

    A Mexican family with partial congenital nephrogenic diabetes insipidus (NDI) that resulted from a mutation in the aquaporin-2 water channel (AQP2) was characterized, and the source of this rare mutation was traced to the family's town of origin in Mexico. Affected individuals with profound polyuria

  6. 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

  7. Family Privilege

    Science.gov (United States)

    Seita, John R.

    2014-01-01

    Family privilege is defined as "strengths and supports gained through primary caring relationships." A generation ago, the typical family included two parents and a bevy of kids living under one roof. Now, every variation of blended caregiving qualifies as family. But over the long arc of human history, a real family was a…

  8. 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

  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. Family Violence and Family Physicians

    Science.gov (United States)

    Herbert, Carol P.

    1991-01-01

    The acronym IDEALS summarizes family physicians' obligations when violence is suspected: to identify family violence; document injuries; educate families and ensure safety for victims; access resources and coordinate care; co-operate in the legal process; and provide support for families. Failure to respond reflects personal and professional experience and attitudes, fear of legal involvement, and lack of knowledge. Risks of intervention include physician burnout, physician overfunctioning, escalation of violence, and family disruption. PMID:21228987

  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 (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. Family employees and absenteeism

    OpenAIRE

    Laszlo Goerke; Jörn Block; Jose Maria Millan; Concepcion Roman

    2014-01-01

    Work effort varies greatly across employees, as evidenced by substantial differences in absence rates. Moreover, absenteeism causes sizeable output losses. Using data from the European Community Household Panel (ECHP), this paper investigates absence behavior of family employees, i.e. workers who are employed in enterprises owned by a relative. Our estimates indicate that being a family employee instead of a regular employee in the private sector significantly reduces both the probability and...

  13. 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.

  14. Familial gigantism

    Directory of Open Access Journals (Sweden)

    Wouter W. de Herder

    2012-01-01

    Full Text Available Familial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

  15. Family Issues

    Science.gov (United States)

    ... es Autismo? Family Issues Home / Living with Autism / Family Issues Stress Siblings A child’s autism diagnosis affects every member of the family in different ways. Parents/caregivers must now place their ... may put stress on their marriage, other children, work, finances, and ...

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

    Science.gov (United States)

    Panganiban-Corales, Avegeille T; Medina, Manuel F

    2011-10-31

    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. 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. 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. Many Filipino families of children with cancer have inadequate resources, especially economic; and are moderately or severely

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

    Directory of Open Access Journals (Sweden)

    Panganiban-Corales Avegeille T

    2011-10-01

    Full Text Available Abstract 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

  18. 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...... asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations...

  19. Family Polymorphism

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

    safety and flexibility at the level of multi-object systems. We are granted the flexibility of using different families of kinds of objects, and we are guaranteed the safety of the combination. This paper highlights the inability of traditional polymorphism to handle multiple objects, and presents family...... polymorphism as a way to overcome this problem. Family polymorphism has been implemented in the programming language gbeta, a generalized version of Beta, and the source code of this implementation is available under GPL....

  20. Family literacy

    DEFF Research Database (Denmark)

    Sehested, Caroline

    2012-01-01

    I Projekt familielæsning, der er et samarbejde mellem Nationalt Videncenter for Læsning og Hillerød Bibliotek, arbejder vi med at få kontakt til de familier, som biblioteket ellers aldrig ser som brugere og dermed også de børn, der vokser op i familier, for hvem bøger og oplæsningssituationer 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....

  1. Community families

    DEFF Research Database (Denmark)

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

    2017-01-01

    : 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......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...

  2. 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

  3. Dual-career family as an exampleof egalitarian family

    Directory of Open Access Journals (Sweden)

    Joanna Ostrouch-Kamińska

    2011-11-01

    Full Text Available The economic, cultural, and social transformation, growth of women's economic strength as well as the level of their education, and development of ideas of equal rights of women and men on the labour market and in social life cause changes in gender relation in the family. Poles more and more often declare and support egalitarian family, and a new model of a family appears among existing ones – dual-career family.The main aim of the article is to consider the sources of its rise, description of gender positions in marital relation, the division of tasks and responsibilities, possible dilemmas and conflicts, but also emotional, intellectual and social advantages. The analysis were put into context of changes in defining and describing family, and also in context of different family discourses. One of them was underlined the most – egalitarian one as the most approximate to the way of defining and understanding dual-career family model.

  4. 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

  5. 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

  6. Familial hypercholesterolemia

    Science.gov (United States)

    ... and Tests A physical exam may show fatty skin growths called xanthomas and cholesterol deposits in the eye (corneal arcus). The health care provider will ask questions about your personal and family medical history. There may be: A strong family history of ...

  7. FAMILY PYRGOTIDAE.

    Science.gov (United States)

    Mello, Ramon Luciano; Lamas, Carlos José Einicker

    2016-06-14

    Pyrgotidae is a family of endoparasitics flies of beetles with worldwide distribution. The Neotropical fauna is composed by 59 valid species names disposed in 13 genera. The occurrence of Pyrgota longipes Hendel is the first record of the family in Colombia.

  8. Analysis of USAREUR Family Housing.

    Science.gov (United States)

    1985-04-01

    Standard Installation/Division Personnel System SJA ................ Staff Judge Advocate SPSS ............... Statistical Package for the...for Projecting Family Housing Requirements. a. Attempts to define USAREUR’s programmable family housing deficit Sbased on the FHS have caused anguish ...responses using the Statistical Package for the Social Sciences ( SPSS ) computer program. E-2 ANNEX E RESPONSE TO ESC HOUSING QUESTIONNAIRE Section Page I

  9. 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...

  10. Small Families

    Science.gov (United States)

    ... children of larger families. The financial costs of maintaining a household are lower. It is easier for ... separated from you, hindering the development of new relationships with peers. In fact, you may have that ...

  11. Familial hypercholesterolaemia

    African Journals Online (AJOL)

    Familial hypercholesterolaemia (FH) is a monogenic disorder of low-density lipoprotein (LDL) metabolism. It is characterised .... Figure 2: Cumulative prevalence of physical signs in adult FH patients at the. GSH Lipid .... microvascular trauma.

  12. Family Life

    Science.gov (United States)

    ... family members to do your laundry, walk the dog, or update others on your progress. You may ... parenting while living with cancer . The importance of communication As demonstrated above, good communication is important in ...

  13. 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.

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

    DEFF Research Database (Denmark)

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

    is associated with few point mutations in the α2 isoform Na,K-ATPase. Mice bearing a mutation corresponding to the inherited mutation in FHM2 patients (G301R) were used in functional studies of middle cerebral arteries. Middle cerebral arteries from heterozygote G301R mice were not different in total α2 Na......,K-ATPase mRNA in comparison with WT, but 51±11% of their mRNA contained G301R mutation. G301R mice had elevated blood pressure and unchanged heart rate. Inner diameter of cerebral arteries from G301R mice was significantly larger than in WT. G301R arteries were more sensitive and had higher maximal...... contraction to U46619, endothelin and K+-depolarization. This was associated with increased depolarization and sensitization to [Ca2+]i (in spite of reduced Ca2+ influx) in G301R arteries. pNaKtide, a peptide inhibiting the Na,K-ATPase-dependent Src activation, abolished differences between G301R and WT mice...

  15. [Tropical causes of epilepsy].

    Science.gov (United States)

    Carod-Artal, F J

    Eighty-five percent of all epileptics live in tropical regions. Prenatal risk factors, traumatic brain injuries and different parasitic infestations of the central nervous system (CNS) are the reasons behind the high prevalence of epilepsy. This work reviews the main parasitic infestations causing epilepsy in the tropics. Neurocysticercosis is the main cause of focal epilepsy in early adulthood in endemic areas (30-50%). All the phases of cysticerci (viable, transitional and calcified) are associated with epileptic seizures. Anti-cysticercus treatment helps get rid of cysticerci faster and reduces the risk of recurrence of seizures in patients with viable cysts. Symptomatic epilepsy can be the first manifestation of neuroschistosomiasis in patients without any systemic symptoms. The pseudotumoral form can trigger seizures secondary to the presence of granulomas and oedemas in the cerebral cortex. The eggs of Schistosoma japonicum are smaller, reach the CNS more easily and trigger epileptic seizures more frequently. Toxocariasis and sparganosis are other parasitic infestations that can give rise to symptomatic seizures. The risk factors for suffering chronic epilepsy after cerebral malaria are a positive familial history of epilepsy and a history of episodes of fever and cerebral malaria that began with coma or which progressed with multiple, prolonged epileptic seizures. About 20% of patients with cerebral infarction secondary to Chagas disease present late vascular epilepsy as a complication. Very few studies have been conducted to examine the prognosis, risk of recurrence and modification of the natural course of seizures associated with tropical parasitic infestations, except for the case of neurocysticercosis.

  16. A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family.

    Science.gov (United States)

    Miao, Jing; Su, Fei-Fei; Liu, Xue-Mei; Wei, Xiao-Jing; Yuan, Yun; Yu, Xue-Fan

    2018-06-04

    Filamin C-related myofibrillar myopathies (MFM) are progressive skeletal myopathies with an autosomal dominant inheritance pattern. The conditions are caused by mutations of the filamin C gene (FLNC) located in the chromosome 7q32-q35 region. Genetic variations in the FLNC gene result in various clinical phenotypes. We describe a 43-year-old woman who suffered filamin C-related MFM, with symptoms first presenting in the proximal muscles of the lower limbs and eventually spreading to the upper limbs and distal muscles. The patient's serum level of creatine kinase was mildly increased. Mildy myopathic changes in the electromyographic exam and moderate lipomatous alterations in lower limb MRI were found. Histopathological examination revealed increased muscle fiber size variability, disturbances in oxidative enzyme activity, and the presence of abnormal protein aggregates and vacuoles in some muscle fibers. Ultrastructural analysis showed inclusions composed of thin filaments and interspersed granular densities. DNA sequencing analysis detected a novel 15-nucleotide deletion (c.2791_2805del, p.931_935del) in the FLNC gene. The patient's father, sister, brother, three paternal aunts, one paternal uncle, and the uncle's son also had slowly progressive muscle weakness, and thus, we detected an autosomal dominant inheritance pattern of the disorder. A novel heterogeneous 15-nucleotide deletion (c.2791_2805del, p.931_935del) in the Ig-like domain 7 of the FLNC gene was found to cause filamin C-related MFM. This deletion in the FLNC gene causes protein aggregation, abnormalities in muscle structure, and impairment in muscle fiber function, which leads to muscle weakness.

  17. Healthy Family 2009: Protecting Toddlers and Teens

    Science.gov (United States)

    ... Home Current Issue Past Issues Healthy Family 2009 Protecting Toddlers and Teens Past Issues / Winter 2009 Table ... virus that causes a rash, cough, runny nose, eye irritation, and fever Mumps, a virus causing fever, ...

  18. Family welfare.

    Science.gov (United States)

    Sinha, N K

    1992-01-01

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

  19. Ethics of Qualitative Interviewing with Grieving Families.

    Science.gov (United States)

    Rosenblatt, Paul C.

    1995-01-01

    Illustrations from a recent study of farm families who had lost a family member are used to illuminate some of the ethical challenges in qualitative bereavement research. Included in the exploration are ethics involved in interview recruitment, causing pain, informed consent, the boundaries of research and therapy, family dysfunction, and…

  20. [Relapse: causes and consequences].

    Science.gov (United States)

    Thomas, P

    2013-09-01

    Relapse after a first episode of schizophrenia is the recurrence of acute symptoms after a period of partial or complete remission. Due to its variable aspects, there is no operational definition of relapse able to modelise the outcome of schizophrenia and measure how the treatment modifies the disease. Follow-up studies based on proxys such as hospital admission revealed that 7 of 10 patients relapsed after a first episode of schizophrenia. The effectiveness of antipsychotic medications on relapse prevention has been widely demonstrated. Recent studies claim for the advantages of atypical over first generation antipsychotic medication. Non-adherence to antipsychotic represents with addictions the main causes of relapse long before some non-consensual factors such as premorbid functioning, duration of untreated psychosis and associated personality disorders. The consequences of relapse are multiple, psychological, biological and social. Pharmaco-clinical studies have demonstrated that the treatment response decreases with each relapse. Relapse, even the first one, will contribute to worsen the outcome of the disease and reduce the capacity in general functionning. Accepting the idea of continuing treatment is a complex decision in which the psychiatrist plays a central role besides patients and their families. The development of integrated actions on modifiable risk factors such as psychosocial support, addictive comorbidities, access to care and the therapeutic alliance should be promoted. Relapse prevention is a major goal of the treatment of first-episode schizophrenia. It is based on adherence to the maintenance treatment, identification of prodromes, family active information and patient therapeutical education. Copyright © 2013 L’Encéphale. Published by Elsevier Masson SAS.. All rights reserved.

  1. Familial macrocephaly

    International Nuclear Information System (INIS)

    Tatsuno, Masaru; Hayashi, Michiko; Iwamoto, Hiroko

    1984-01-01

    We reported 63 macrocephalic children with special emphasis on 16 cases with familial macrocephaly. Of the 16 children with familial macrocephaly, 13 were boys. Foureen parents (13 fathers and 1 mother) had head sizes above 98th percentile. Three of 5 brothers and 5 of 8 sisters also had large heads. The head circumference at birth was known for 14 of the children and it was above the 98th percentile in 7 patients. Subsequent evaluations have shown the head size of these children to be following a normal growth curve. Some of the children were hypotonic as infants, but their development was generally normal. CT scans usually clearly distinguished these children from those with hydorocephalus. The familial macrocephalic children had ventricular measurements which were within the normal range, but absolute measurements of the ventricular size may be misleading, because the CT appearance was of mildly dilated ventricles in half of them. (author)

  2. Family Structure and Family Processes in Mexican American Families

    OpenAIRE

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

    2011-01-01

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

  3. 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.)

  4. 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.

  5. Family Violence.

    Science.gov (United States)

    Emery, Robert E.

    1989-01-01

    Researchers and policymakers have begun to recognize the extent and severity of family violence, particularly its effects on children. But there is much disagreement about the definition of violence, its development, the consequences for victims, and the most effective avenues for intervention. Advances recommendations for further research.…

  6. Family arizing

    NARCIS (Netherlands)

    Croes, M.J.G.; Feijs, L.M.G.; Chen, L.; Djajadingrat, T.; Feijs, L.M.G.; Hu, J.; Kufin, S.H.M.; Rampino, L.; Rodriguez, E.; Steffen, D.

    2015-01-01

    In this demo we show the two main components of the Family Arizing system which allows parents to stay in contact with their child and, in cases of distress, provide the child with a remote comforting hug. The two components to be shown are the active necklace and the active snuggle.

  7. 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....

  8. FAMILY ASILIDAE.

    Science.gov (United States)

    Wolff, Marta; Lamas, Carlos José Einicker

    2016-06-14

    Asilidae is one of the largest Diptera families with more than 7,000 recognized species worldwide. All their species are predators on arthropods, mainly insects. This catalogue presents 71 species distributed in 26 genera, ten tribes or generic groups and four subfamilies. For each species we present the available geographical information and relevant references.

  9. 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)

  10. Familial hypercholesterolaemia

    DEFF Research Database (Denmark)

    Versmissen, Jorie; Vongpromek, Ranitha; Yahya, Reyhana

    2016-01-01

    cholesterol efflux capacity between male familial hypercholesterolaemia (FH) patients with and without CHD relative to their non-FH brothers, and examined HDL constituents including sphingosine-1-phosphate (S1P) and its carrier apolipoprotein M (apoM). RESULTS: Seven FH patients were asymptomatic and six had...... in asymptomatic FH patients may play a role in their apparent protection from premature CHD....

  11. Do Allergies Cause Asthma?

    Science.gov (United States)

    ... for Educators Search English Español Do Allergies Cause Asthma? KidsHealth / For Parents / Do Allergies Cause Asthma? Print ... son la causa del asma? Do Allergies Cause Asthma? Allergies don't cause asthma. But kids who ...

  12. 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...

  13. 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...... families, and 2 MLH1+PMS2 families) comprising 1028 at-risk carriers were identified among the Swedish LS families, of which 1003 mutation carriers had available follow-up information and could be included in the study. Using a normal random effects model (NREM) we estimate a 2.1 year decrease in age...

  14. 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......: Huntington's disease has a major impact on family systems. Caregiver roles are shaped by impairments in the affected family member and corresponding dynamic adoption and change in roles within the family. Making assessments of the family structure and roles, professionals may understand more about how...

  15. 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....

  16. FAMILY BOMBYLIIDAE.

    Science.gov (United States)

    Lamas, Carlos José Einicker; Evenhuis, Neal L

    2016-06-14

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

  17. 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.)

  18. Parental experience of family resources in single-parent families having a child with cancer.

    Science.gov (United States)

    Huang, I-Chen; Mu, Pei-Fan; Chiou, Tzeon-Jye

    2008-10-01

    The purpose of this study was to explore the essence of family experiences in terms of family resources and how these assist a single-parent caring for a child with cancer. When families face stresses caused by cancer, they need to readjust their roles, interactive patterns and relationships, both inside and outside the family. During the adaptation process, family resources may assist recovery from stress and a return to equilibrium. Most research has emphasised the support resources available to two-parent families during the treatment process. There is a lack of information on the experiences of single-parent families and their available resources together with the functions and roles played by family resources during the adjustment process. Qualitative. Five major themes were identified: (i) facing the disease with courage; (ii) hope kindled by professionals; (iii) constructing parental role ability; (iv) assisting the children to live with the illness; and (v) family flexibility. The results of the current study demonstrate that single-parent families with a child suffering from cancer employ family resources to assist family adjustment and to maintain family function/equilibrium. These results explain the dynamic interactions between the multiple levels of resources available to the family. The study results provide evidence-based information that identifies the nature of family resources in single-parent families and describes how these resources can be applied to assist the families.

  19. 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.

  20. 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)

  1. Disease: H01808 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available that CACNA1A associate with HHE and familial hemiplegic migraine, and suggested that similar pathogenic mech... ... Familial or sporadic hemiplegic migraine. ICD-10: G40.5 PMID:22341151 ... AUTHORS ... Auvin S, Bellavoine V, M...sions. Although hemiplegia is usually permanent, it may disappear in about 20% of cases. Some patients with familial hemiplegic migra...ine and manifesting the S218L mutation in CACNA1A were reported to experience sever

  2. What Causes SIDS?

    Science.gov (United States)

    ... Environment Look Like? How Can Caregivers Create a Safe Sleep Environment? Babies Need Tummy ... exactly what causes SIDS at this time. Scientists and health care providers are working very hard to find the cause or causes ...

  3. The Role of Family in Family Firms

    OpenAIRE

    Marianne Bertrand; Antoinette Schoar

    2006-01-01

    History is replete with examples of spectacular ascents of family businesses. Yet there are also numerous accounts of family businesses brought down by bitter feuds among family members, disappointed expectations between generations, and tragic sagas of later generations unable to manage their wealth. A large fraction of businesses throughout the world are organized around families. Why are family firms so prevalent? What are the implications of family control for the governance, financing an...

  4. "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.

  5. 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.

  6. Putting Families in the Center: Family Perspectives on Decision Making and ADHD and Implications for ADHD Care

    Science.gov (United States)

    Davis, Catherine C.; Claudius, Milena; Palinkas, Lawrence A.; Wong, John B.; Leslie, Laurel K.

    2012-01-01

    Objective: To examine components of family-centered care in families' stories about treatment decision making for their child with ADHD. Method: Twenty-eight families participated in qualitative interviews that addressed families' perspectives on (a) the treatment decision-making process, (b) the cause and impact of their child's symptoms, and (c)…

  7. 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...... 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...

  8. Familial adenomatous polyposis.

    OpenAIRE

    Burn, J; Chapman, P D; Eastham, E J

    1994-01-01

    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 rect...

  9. Familial Gastric Cancers.

    Science.gov (United States)

    Setia, Namrata; Clark, Jeffrey W; Duda, Dan G; Hong, Theodore S; Kwak, Eunice L; Mullen, John T; Lauwers, Gregory Y

    2015-12-01

    Although the majority of gastric carcinomas are sporadic, approximately 10% show familial aggregation, and a hereditary cause is determined in 1%-3% cases. Of these, hereditary diffuse gastric cancer is the most recognized predisposition syndrome. Although rare, the less commonly known syndromes also confer a markedly increased risk for development of gastric cancer. Identification and characterization of these syndromes require a multidisciplinary effort involving oncologists, surgeons, genetic counselors, biologists, and pathologists. This article reviews the molecular genetics, clinical and pathologic features, surveillance guidelines, and preventive measures of common and less common hereditary gastric cancer predisposition syndromes. ©AlphaMed Press.

  10. Psychological Support for Families During Crises (as exemplified by families members of Ukrainian war veterans

    Directory of Open Access Journals (Sweden)

    Yablonska Tetiana

    2017-06-01

    Full Text Available The goal of the article is to describe the theoretical and empirical research of characteristics of families under non-normative crises, having as an example the families of combatants participated in the anti-terrorist operation in Ukraine. The following family crises are discussed: normative crises, as period of transition from one stage of the family life cycle to another and non-normative crises caused by traumatic life events.

  11. Roles within the Family

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Text Size Email Print Share Roles Within the Family Page Content Article Body Families are not democracies. ...

  12. Genetics Home Reference: familial male-limited precocious puberty

    Science.gov (United States)

    ... male-limited precocious puberty Familial male-limited precocious puberty Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Familial male-limited precocious puberty is a condition that causes early sexual development ...

  13. 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 ...

  14. Family Psychology and Family Therapy in Japan.

    Science.gov (United States)

    Kameguchi, Kenji; Murphy-Shigematsu, Stephen

    2001-01-01

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

  15. 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…

  16. Strengthening Family Practices for Latino Families.

    Science.gov (United States)

    Chartier, Karen G; Negroni, Lirio K; Hesselbrock, Michie N

    2010-01-01

    The study examined the effectiveness of a culturally-adapted Strengthening Families Program (SFP) for Latinos to reduce risks for alcohol and drug use in children. Latino families, predominantly Puerto Rican, with a 9-12 year old child and a parent(s) with a substance abuse problem participated in the study. Pre- and post-tests were conducted with each family. Parental stress, parent-child dysfunctional relations, and child behavior problems were reduced in the families receiving the intervention; family hardiness and family attachment were improved. Findings contribute to the validation of the SFP with Latinos, and can be used to inform social work practice with Puerto Rican families.

  17. What Causes Down Syndrome?

    Science.gov (United States)

    ... Division Offices, Branches & Programs Research Areas Training and Recruitment Division of Intramural Research (DIR) Office of the ... launched DS-Connect® as a safe and secure online registry for people with Down syndrome, their families, ...

  18. Do Allergies Cause Asthma?

    Science.gov (United States)

    ... Development Infections Diseases & Conditions Pregnancy & Baby Nutrition & Fitness Emotions & Behavior School & Family Life First Aid & Safety Doctors & ... Can I Deal With My Asthma? Allergy Testing Definition: Allergy-Triggered Asthma Asthma Center Asthma View more ...

  19. 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.

  20. Systemic allergic dermatitis caused by sesquiterpene lactones

    DEFF Research Database (Denmark)

    Paulsen, Evy

    2017-01-01

    Patients with Compositae sensitization are routinely warned against the ingestion of vegetables, spices, teas and herbal remedies from this family of plants. The evidence for the occurrence of systemic allergic dermatitis caused by sesquiterpene lactone-containing plants is mostly anecdotal...

  1. [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…

  2. What Causes Cushing's Syndrome?

    Science.gov (United States)

    ... Share Facebook Twitter Pinterest Email Print What causes Cushing syndrome? Cushing syndrome can develop for two reasons: Medication ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing Syndrome Normally, the pituitary gland in the brain controls ...

  3. What Causes COPD?

    Science.gov (United States)

    ... please turn JavaScript on. Feature: The Challenge of COPD What Causes COPD? Past Issues / Fall 2014 Table of Contents Long- ... and the airways usually is the cause of COPD. In the United States, the most common irritant ...

  4. 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

  5. Family Smoking, Exposure to Secondhand Smoke at Home and Family Unhappiness in Children

    Directory of Open Access Journals (Sweden)

    Jian Jiu Chen

    2015-11-01

    Full Text Available Tobacco use adversely affects many aspects of well-being and is disliked by non-smokers. However, its association with family happiness is unknown. We investigated the associations of family unhappiness with smoking in family members and secondhand smoke (SHS exposure at home in Hong Kong children. In a school-based survey in 2012–2013, 1238 primary school students (mean age 8.5 years, standard deviation 0.9; 42.6% boys reported family smoking, SHS exposure at home and whether their families had any unpleasant experience caused by smoking or SHS in the past 30 days (tobacco-related unpleasant experience, and rated the overall level of happiness in their families (family unhappiness. Multivariable logistic regression was used to study the associations of tobacco-related unpleasant experience and family unhappiness with family smoking and SHS exposure at home. Tobacco-related unpleasant experience and family unhappiness were reported by 27.5% and 16.5% of students. Unpleasant experience was more strongly associated with family smoking than SHS exposure at home. Family unhappiness was associated with both family smoking (odds ratio 2.37; 95% confidence interval 1.51–3.71 and SHS exposure at home (1.82; 1.39–2.40. These results suggest a previously neglected possible impact of tobacco use on family happiness.

  6. Bequeathing Family Continuity.

    Science.gov (United States)

    Spanier, Graham B.

    1989-01-01

    Notes that many children who experience abuse, family disruption, or poverty reach adulthood with a strong commitment to family life. Questions whether changes in American families are indicators of pathology, deterioration, and instability; and asks how dysfunctional families transmit commitment to the concept of family to succeeding generations.…

  7. The Reconstituted Family

    OpenAIRE

    Talbot, Yves

    1981-01-01

    The reconstituted or step-family is becoming more prevalent. The physician who cares for families should be acquainted with the different aspects of such family structure and family functioning. This will enable professionals to better understand and assist their patients, by anticipating the different stresses related to the new family formation, and supporting their adaptation.

  8. 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|info:eu-repo/dai/nl/165624647

    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

  9. Risk-taking behavior in private family firms: the role of the non-family CEO

    OpenAIRE

    Huybrechts, Jolien; Voordeckers, Wim; Lybaert, Nadine; Vandemaele, Sigrid

    2011-01-01

    This paper studies the risk-taking behavior of private family firms in general as well as variations in risk-taking behavior among the group of family firms. We use the agency perspective to theoretically argue that the usually high degree of coupling of ownership and management causes family firms to be on average less risk-taking than non-family firms. The introduction of a non-family CEO who usually has no or only limited legal ownership will have a positive influence on the level of risk-...

  10. Family Capital: Implications for Interventions with Families

    Science.gov (United States)

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

    2011-01-01

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

  11. Familial Pulmonary Fibrosis

    Science.gov (United States)

    ... Education & Training Home Conditions Familial Pulmonary Fibrosis Familial Pulmonary Fibrosis Make an Appointment Find a Doctor Ask a ... more members within the same family have Idiopathic Pulmonary Fibrosis (IPF) or any other form of Idiopathic Interstitial ...

  12. Family Activities for Fitness

    Science.gov (United States)

    Grosse, Susan J.

    2009-01-01

    This article discusses how families can increase family togetherness and improve physical fitness. The author provides easy ways to implement family friendly activities for improving and maintaining physical health. These activities include: walking, backyard games, and fitness challenges.

  13. 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 ...

  14. 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 ...

  15. The Cause of Gravity

    OpenAIRE

    Byrne, Michael

    1999-01-01

    Einstein said that gravity is an acceleration like any other acceleration. But gravity causes relativistic effects at non-relativistic speeds; so gravity could have relativistic origins. And since the strong force is thought to cause most of mass, and mass is proportional to gravity; the strong force is therefore also proportional to gravity. The strong force could thus cause relativistic increases of mass through the creation of virtual gluons; along with a comparable contraction of space ar...

  16. Family dynamics in families with children with Attention Deficit Hyperactivity Disorder.

    Science.gov (United States)

    Chu, Kangkang; Li, Shasha; Chen, Yixin; Wang, Mingchun

    2012-10-01

    Development of adjunctive family therapy for the treatment of children with Attention Deficit Hyperactivity Disorder (ADHD) in China requires a detailed understanding of the family dynamics of these families. Assess the family dynamics of families with children who have ADHD in Nanjing, China. Forty-six children 10 to 17 years of age treated at the Nanjing Brain Hospital for ADHD and 46 control children of the same age and gender from schools in Nanjing completed the 19-item Questionnaire of Systematic Family Dynamics (QSFD) which assesses four dimensions of family functioning: Family Atmosphere, Individuation, Moral Absolutism, and Personal Responsibility for Psychological Problems. There were no differences between groups in the perceived causes of psychological problems but the ADHD children reported a poorer family atmosphere, less independence from parents, and more ambiguity about 'right' and 'wrong' in the family. After adjustment for the potential confounding effects of parental education and family economic status, the findings of poorer family atmosphere and less individuation in the ADHD children remained statistically significant. The internal consistency of the four dimensions of the QSFD as completed by the children were poor (alpha=0.44-0.53). This preliminary study on the family dynamics of families with children that have ADHD finds that the ADHD children report a poor family atmosphere and little independence from parents. Further work is needed to validate the methods for assessing family dynamics in Chinese families, particularly when using children as informants, but this method provides valuable information that could be used as the focus of adjunctive family therapy to augment the traditional pharmacological and behavioral approaches to the treatment of ADHD.

  17. Varicella zoster virus infection causing urinary retention in a child ...

    African Journals Online (AJOL)

    2012-11-02

    Nov 2, 2012 ... Varicella zoster virus (VZV) of the human herpes virus family .... VZV, cytomegalovirus and Epstein-Barr virus. Radiculomyelitis causing transient urinary retention and sensory lumbosacral symptoms is known as Elsberg ...

  18. Modelling the effects of penetrance and family size on rates of sporadic and familial disease.

    Science.gov (United States)

    Al-Chalabi, Ammar; Lewis, Cathryn M

    2011-01-01

    Many complex diseases show a diversity of inheritance patterns ranging from familial disease, manifesting with autosomal dominant inheritance, through to simplex families in which only one person is affected, manifesting as apparently sporadic disease. The role of ascertainment bias in generating apparent patterns of inheritance is often overlooked. We therefore explored the role of two key parameters that influence ascertainment, penetrance and family size, in rates of observed familiality. We develop a mathematical model of familiality of disease, with parameters for penetrance, mutation frequency and family size, and test this in a complex disease: amyotrophic lateral sclerosis. Monogenic, high-penetrance variants can explain patterns of inheritance in complex diseases and account for a large proportion of those with no apparent family history. With current demographic trends, rates of familiality will drop further. For example, a variant with penetrance 0.5 will cause apparently sporadic disease in 12% of families of size 10, but 80% of families of size 1. A variant with penetrance 0.9 has only an 11% chance of appearing sporadic in families of a size similar to those of Ireland in the past, compared with 57% in one-child families like many in China. These findings have implications for genetic counselling, disease classification and the design of gene-hunting studies. The distinction between familial and apparently sporadic disease should be considered artificial. Copyright © 2011 S. Karger AG, Basel.

  19. 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. ...

  20. Families and family therapy in Hong Kong.

    Science.gov (United States)

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

    2012-04-01

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

  1. 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...

  2. What Causes Bad Breath?

    Science.gov (United States)

    ... Videos for Educators Search English Español What Causes Bad Breath? KidsHealth / For Teens / What Causes Bad Breath? Print en español ¿Qué es lo que provoca el mal aliento? Bad breath, or halitosis , can be a major problem, ...

  3. 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

  4. 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.

  5. 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.

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

    Science.gov (United States)

    Bronfenbrenner, Urie

    1984-01-01

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

  7. CADASIL and A Family

    Directory of Open Access Journals (Sweden)

    Figen Varlıbaş

    2008-04-01

    Full Text Available OBJECTIVE: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is a systemic vasculopathy that causes various clinical pictures as recurrent ischemic attacks, migrainous headache, pseudo bulbar palsy, epileptic seizures and dementia. Mutations of notch3 gene on chromosome 19 are responsible for the disease. METHODS: The aim of this study is to draw attention to the family history and neuroradiological investigations of a genetically diagnosed CADASIL case. RESULTS: A forty-seven-years-old woman who presented with left hemiparesis was investigated for the cause of stroke as well as her family history. Her mother was reported to have chronic headache. Then inappropriate crying and laughing attacks, behavioral disturbances, urinary incontinency had contributed and she had died at the age of 51 following sudden loss of consciousness. Her father had had four stroke attacks after 45 and before he died at the age of 73 he was unresponsive for the last 10 years. First sibling, 58 years-old female had a history of three stroke attacks and reported forgetfulness. Second sibling, a female, suffered from headache and had died at the age of 37 succeeding two epileptic seizures. Third sibling, 53 years-old female was said to be living bedridden for the last 5 years. Fourth sibling was 51 years-old male and had had a stroke attack at the age of 38. Fifth sibling was 48 years-old female whose speech disorder started 10 years ago. Laughing and crying attacks, incontinency, childish behavior and forgetfulness were also added. Sixth sibling was our patient. Seventh sibling was 45 years-old, male and had no complaints. First, fourth, sixth and seventh siblings were evaluated in systematic, neurological, neuropsychological and neuroradiological perspectives. CONCLUSION: In addition to family history, hyperintensities in temporal polar region and external capsule on flair and T2-weighted MRI supported the diagnosis of

  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. 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)

  10. 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…

  11. 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.)

  12. 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.

  13. 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.

  14. Childhood Obesity Causes & Consequences

    Science.gov (United States)

    ... and Local Programs Related Topics Diabetes Nutrition Childhood Obesity Causes & Consequences Recommend on Facebook Tweet Share Compartir ... determine how a community is designed. Consequences of Obesity More Immediate Health Risks Obesity during childhood can ...

  15. What Causes a Toothache?

    Science.gov (United States)

    ... See a Dentist? What is Dental Amalgam (Silver Filling)? Temporomandibular Joint Disorder Men: Looking for a Better ... sinus or ear infections and tension in the facial muscles can cause discomfort that resembles a toothache, ...

  16. Causes of Paralysis

    Science.gov (United States)

    ... and often disabling disease of the central nervous system. > Muscular dystrophy MD is characterized by the degeneration of skeletal muscles. > Neurofibromatosis Progressive disorder of the nervous system that causes tumors on the nerves. > Post-polio ...

  17. 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.

  18. Work-family harmony

    OpenAIRE

    Adhikari,Pralhad

    2018-01-01

    The phenomenon of positively thinking about work and organization during the family hours by a worker is called work-family harmony. On the fag opposite of work-family conflict is work-family harmony. The work extends/intrudes into the family life of the worker, but in a positive way. This kind of positive thinking about the organization helps person's subjective well-being grow and his mental health is also nourished.

  19. 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.

  20. The impact of partnership in the management of family businesses

    OpenAIRE

    Janja Škedelj

    2016-01-01

    Purpose and Originality: The purpose of the survey is to examine and understand interpersonal relationships and their impact on the quality of governance in family businesses. The aim is to present interpersonal relationships in family businesses, their causes and impact on the quality of management. Method: The aim of the article will review and presentation of interpersonal relationships in family businesses, their causes and impacts on the quality of work. We will prese...

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

    Science.gov (United States)

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

    2013-01-01

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

  2. 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.

  3. Phytodermatitis caused by Ceratocephalus falcatus (Ranunculacea).

    Science.gov (United States)

    Karaca, Semsettin; Kulac, Mustafa; Kucuker, Hudaverdi

    2005-01-01

    Ceratocephalus falcatus is a member of Ranunculacea family that forms part of the flora of the Sinanpasa and Dinar regions of Afyon city in Turkey. Ceratocephalus falcatus has laxative properties and has been used for treating hemorrhoids, rheumatismal diseases and wounds. Here, a case of phytodermatitis caused by this remedy used for relieving knee pain is presented. This plant should be kept in mind when a case of phytodermatitis with vesicles or bullae presents at clinics.

  4. 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.

  5. FAMILY EDUCATION IN MODERN LIFE-DEVELOPMENT STRATEGIES

    OpenAIRE

    I.I. Dorozhko

    2018-01-01

    The crisis of a family education in modern societies, which, according to its definition are the risk societies, is caused not only by lagging of its practice from the accelerated pace of modern societies modernization and changes in the organization of family life, but also by the decline of the culture of life development and pedagogical culture of wider population stratum. The changes taking place in modern families, hasty conclusions about the replacement of traditional family with its ne...

  6. TRANSFORMATION OF FAMILY IN MODERN RUSSIAN SOCIETY

    Directory of Open Access Journals (Sweden)

    Olga Anatolevna Otradnova

    2014-09-01

    Full Text Available The article examines concept of family in Russian society, changes in interpretation of family, connected with modern tendencies and processes in different sociocultural spheres.   The article is structured and has accurate limits of introduction, main part and conclusion. The relevance of the research is caused by present-day crisis tendencies connected with suicide actions, atomization and hedonization of society, value depreciation of family.  The object of the research is to analyze the conception of family and its transformation in condition of modern Russian society. The tasks are to determine the term family, to analyze approaches to understanding of the family and its genesis, detect some peculiarities of modern Russian society, research the transformation of interpretation of family in modern society; the matter of investigation is modern Russian society, the subject is the transformation of family structures; the following methods of research are used: historical and cultural approach, typological method, existential method, common logic procedures. The research contains author’s definition of the term family, historical and cultural analysis and typological explication of the approaches to interpretation of the problem, classification of family structures - which have been formed in Russian society- on the base of statistic and sociological data.   Some interweaving of concept family with the most important existential values (love, freedom, responsibility were investigated and some tendencies for further development of family relationship in Russian society were revealed, its problems and prospect were emphasized. The results of the investigation testify that modern types of matrimonial relationship differ in limitation of functionality, mutual responsibility, thereby it is possible to state that interpretation of family in modern Russian society has transformed.

  7. Cancer-causing radiation

    International Nuclear Information System (INIS)

    Ullrich, R.L.; Holland, J.M.; Storer, J.B.

    1977-01-01

    Radiation causes cancer. That simple fact was known by the early 1900s. Further, radiation can induce cancer in almost any tissue in animals and humans. But the cancer-causing dose may vary by 20-fold for different tissues in animals. Such variation is also seen in people who are exposed, typically, to low radiation doses. Hence, the minimum dose that causes human cancer is not known. Thus, the crucial question becomes what factors, including amount of exposure, trigger cancer. Radiation is divided into two types, ionizing and nonionizing. Of the two, ionizing radiation involves higher energies. Thus by ejecting electrons from molecules, charged particles called ion pairs are formed. They are short-lived, and often break down to form highly reactive free radicals, which are molecular fragments containing unpaired electrons. Nonionizing radiation, which involves ultraviolet light and micro- and radiowaves, causes molecular excitations such as vibrations and electron movement, but produces no ions. And though ultraviolet light causes skin cancer, ionizing radiation is, by far, the more potent carcinogen

  8. Nontraditional family romance.

    Science.gov (United States)

    Corbett, K

    2001-07-01

    Family stories lie at the heart of psychoanalytic developmental theory and psychoanalytic clinical technique, but whose family? Increasingly, lesbian and gay families, multiparent families, and single-parent families are relying on modern reproductive technologies to form families. The contemplation of these nontraditional families and the vicissitudes of contemporary reproduction lead to an unknowing of what families are, including the ways in which psychoanalysts configure the family within developmental theory. This article focuses on the stories that families tell in order to account for their formation--stories that include narratives about parental union, parental sexuality, and conception. The author addresses three constructs that inform family stories and that require rethinking in light of the category crises posed by and for the nontraditional family: (1) normative logic, (2) family reverie and the construction of a family romance, and (3) the primal scene. These constructs are examined in tandem with detailed clinical material taken from the psychotherapy of a seven-year-old boy and his two mothers.

  9. Trends in family tourism

    Directory of Open Access Journals (Sweden)

    Heike A. Schänzel

    2015-03-01

    Full Text Available Purpose – Families represent a large and growing market for the tourism industry. Family tourism is driven by the increasing importance placed on promoting family togetherness, keeping family bonds alive and creating family memories. Predictions for the future of family travel are shaped by changes in demography and social structures. With global mobility families are increasingly geographically dispersed and new family markets are emerging. The purpose of this paper is to discuss the trends that shape the understanding of families and family tourism. Design/methodology/approach – This paper examines ten trends that the authors as experts in the field identify of importance and significance for the future of family tourism. Findings – What emerges is that the future of family tourism lies in capturing the increasing heterogeneity, fluidity and mobility of the family market. Originality/value – The paper contributes to the understanding about the changes taking place in family tourism and what it means to the tourism industry in the future.

  10. Strengthening Family Practices for Latino Families

    Science.gov (United States)

    Chartier, Karen G.; Negroni, Lirio K.; Hesselbrock, Michie N.

    2010-01-01

    This study examined the effectiveness of a culturally adapted Strengthening Families Program (SFP) for Latinos to reduce risks for alcohol and drug use in children. Latino families, predominantly Puerto Rican, with a 9- to 12-year-old child and a parent(s) with a substance abuse problem participated in the study. Pre- and post-tests were conducted…

  11. Intra-family messaging with family circles

    NARCIS (Netherlands)

    Schatorjé, R.J.W.; Markopoulos, P.; Neustaedter, C.; Harrison, S.; Sellen, A.

    2013-01-01

    This chapter makes the argument that intra-family communication is not an issue of connectivity anytime anywhere, but of providing communication media that are flexible and expressive allowing families to appropriate them and fit their own idiosyncratic ways of communicating with each other. We

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

    Science.gov (United States)

    Zuk, Gerald H.

    1980-01-01

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

  13. Vulvovaginitis: causes and management.

    Science.gov (United States)

    Pierce, A M; Hart, C A

    1992-01-01

    Over a period of 33 months in a paediatric accident and emergency department, the clinical pattern and possible causes of vulvovaginitis were studied prospectively in 200 girls presenting with genital discharge, irritation, pain, or redness. The major causes were poor hygiene and threadworms. The suspicion of sexual abuse arose in a few girls but no organisms of sexually transmitted disease were found. Urinary symptoms were common but only 20 patients had a significant bacteriuria and 40 had sterile pyuria. Specific skin problems occurred in 28 cases. Simple measures to improve hygiene and treatment of threadworms gave effective relief. Genital irritation caused urinary symptoms with no clinical evidence of infection, and it is advised that antibiotic treatment should await urine culture. Specific skin problems require help from a dermatologist. The possibility of sexual abuse must be considered especially if the vulvovaginitis is persistent or recurrent after adequate treatment. PMID:1580682

  14. 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....

  15. Acculturative family distancing (AFD) and depression in Chinese American families.

    Science.gov (United States)

    Hwang, Wei-Chin; Wood, Jeffrey J; Fujimoto, Ken

    2010-10-01

    Knowledge of acculturative processes and their impact on immigrant families remains quite limited. Acculturative family distancing (AFD) is the distancing that occurs between immigrant parents and their children and is caused by breakdowns in communication and cultural value differences. It is a more proximal and problem-focused formulation of the acculturation gap and is hypothesized to increase depression via family conflict. Data were collected from 105 Chinese American high school students and their mothers. Rasch modeling was used to refine the AFD measure, and structural equation modeling was used to determine the effects of AFD on youth and maternal depression. Findings indicate that greater AFD was associated with higher depressive symptoms and risk for clinical depression. Family conflict partially mediated this relation for youths, whereas for mothers, AFD directly increased risk for depression. Greater mother-child heritage enculturation discrepancies were associated with greater mother and child AFD. Mainstream acculturation discrepancies and language gaps between mothers and youths were not significantly associated with any of the primary outcome variables. Results highlight the need for better understanding of how AFD and other acculturation-gap phenomena affect immigrant mental health. They also underscore the need for prevention and intervention programs that target communication difficulties and intergenerational cultural value differences. Copyright 2010 APA, all rights reserved.

  16. 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.

  17. Leading Causes of Blindness

    Science.gov (United States)

    ... have cataracts. They are the leading cause of blindness in the world. By age 80, more than half of all people in the United States either will have a cataract or have had cataract surgery. Common symptoms are: Blurry vision Colors that seem faded Glare Not being able to ...

  18. 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

  19. 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

  20. 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.

  1. 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

  2. MSUD Family Support Group

    Science.gov (United States)

    ... The Treatment Of MSUD The MSUD Family Support Group has provided funds to Buck Institute for its ... of the membership of the MSUD Family Support Group, research for improved treatments and potential cure was ...

  3. National Military Family Association

    Science.gov (United States)

    ... MilitaryFamily.org © 2017 - National Military Family Association Twitter Facebook Pinterest Instagram Charity Navigator Four Star Charity GuideStar Exchange Better Business Bureau Charity Watch Independent Charity of America nonprofit ...

  4. IGSF9 Family Proteins

    DEFF Research Database (Denmark)

    Hansen, Maria; Walmod, Peter Schledermann

    2013-01-01

    The Drosophila protein Turtle and the vertebrate proteins immunoglobulin superfamily (IgSF), member 9 (IGSF9/Dasm1) and IGSF9B are members of an evolutionarily ancient protein family. A bioinformatics analysis of the protein family revealed that invertebrates contain only a single IGSF9 family gene......, the longest isoforms of the proteins have the same general organization as the neural cell adhesion molecule family of cell adhesion molecule proteins, and like this family of proteins, IGSF9 family members are expressed in the nervous system. A review of the literature revealed that Drosophila Turtle...... facilitates homophilic cell adhesion. Moreover, IGSF9 family proteins have been implicated in the outgrowth and branching of neurites, axon guidance, synapse maturation, self-avoidance, and tiling. However, despite the few published studies on IGSF9 family proteins, reports on the functions of both Turtle...

  5. 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 ...

  6. Resilience of refugee families

    Directory of Open Access Journals (Sweden)

    Batić Dragana

    2012-01-01

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

  7. Unique Family Living Situations

    Science.gov (United States)

    ... Yet, what if the family home changes for reasons of divorce, death, or economics? Factors, such as shifting between ... for a child of any age. If the reason is due to divorce, work together as a family (both parents and ...

  8. Xeroderma Pigmentosum - A Family

    Directory of Open Access Journals (Sweden)

    Garg Anush

    2000-01-01

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

  9. Hair Loss: Common Causes and Treatment.

    Science.gov (United States)

    Phillips, T Grant; Slomiany, W Paul; Allison, Robert

    2017-09-15

    Hair loss is often distressing and can have a significant effect on the patient's quality of life. Patients may present to their family physician first with diffuse or patchy hair loss. Scarring alopecia is best evaluated by a dermatologist. Nonscarring alopecias can be readily diagnosed and treated in the family physician's office. Androgenetic alopecia can be diagnosed clinically and treated with minoxidil. Alopecia areata is diagnosed by typical patches of hair loss and is self-limited. Tinea capitis causes patches of alopecia that may be erythematous and scaly and must be treated systemically. Telogen effluvium is a nonscarring, noninflammatory alopecia of relatively sudden onset caused by physiologic or emotional stress. Once the precipitating cause is removed, the hair typically will regrow. Trichotillomania is an impulse-control disorder; treatment is aimed at controlling the underlying psychiatric condition. Trichorrhexis nodosa occurs when hairs break secondary to trauma and is often a result of hair styling or overuse of hair products. Anagen effluvium is the abnormal diffuse loss of hair during the growth phase caused by an event that impairs the mitotic activity of the hair follicle, most commonly chemotherapy. Physician support is especially important for patients in this situation.

  10. Violence against children within the family

    OpenAIRE

    JACEK J. BŁESZYŃSKI; ANITA RODKIEWICZ-ROŻEK

    2017-01-01

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

  11. Essays on Family Firms

    OpenAIRE

    Zhou, Haoyong

    2012-01-01

    The dissertation examines corporate performance and capital structure of family firms, contributing to the limited empirical research on family firms. Family firms are prevalent in national economies all over the world. It is the prevalence that makes family firms receive increasing attentions from academia. The dissertation consists of an introduction and three chapters. Each chapter is an independent paper. The first chapter is a joint work with Professor Morten Bennedsen and...

  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. 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...

  14. Family Counseling Psychology.

    Science.gov (United States)

    Levant, Ronald F., ed.

    1983-01-01

    Describes programs for family counseling which use psychological-educational and skills training methods to remediate individual and family problems or enhance family life. The six articles discuss client-centered skills training, behavioral approaches, cognitive behavioral marital therapy, Adlerian parent education, and couple communication. (JAC)

  15. 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,…

  16. 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…

  17. Not without cause

    Science.gov (United States)

    Burdette, Dara L.; Yarbrough, Melanie L.; Orth, Kim

    2009-01-01

    Vibrio parahaemolyticus (V. parahaemolyticus) is a gram-negative halophillic bacterium that causes worldwide seafood-borne gastroenteritis. The prevalence of V. parahaemolyticus in the environment and incidence of infection have been linked to rising water temperatures caused by global warming. Among its virulence factors, V. parahaemolyticus harbors two type III secretion systems (T3SS). Recently, we have shown that T3SS1 induces rapid cellular death that initiates with acute autophagy, as measured by LC3 lipidation and accumulation of early autophagosomal vesicles. While not the first characterized pathogen to usurp autophagy, this is the first example of an extracellular pathogen that exploits this pathway for its own benefit. Here we discuss possible roles for the induction of autophagy during infection and discuss how V. parahaemolyticus-induced autophagy provides insight into key regulatory steps that govern the decision between apoptosis and autophagy. PMID:19011375

  18. Labor Informality: General Causes

    Directory of Open Access Journals (Sweden)

    Gustavo Sandoval Betancour

    2016-04-01

    Full Text Available The article examines the main causes of labor informality in order to verify the validity of classical theories that explain unemployment in market economies and its relationship to informality. Methodologically, the project was based, in the empirical part, on international statistics, comparing the evolution of labor market structure in a combined sample of highly industrialized countries and other less industrialized ones. Empirical evidence supports the conclusion that the classical economic theory of Marxist origin is inefficient to explain the causes of unemployment in contemporary market economies, as well as it fails to satisfactorily explain informality. On the contrary, we conclude that the theory in question is more relevant to explain informality in centrally planned economies where this phenomenon has been present even more significantly than in free market economies.

  19. Hypothalamic demyelination causing panhypopituitarism.

    Science.gov (United States)

    Dixon-Douglas, Julia; Burgess, John; Dreyer, Michael

    2018-05-01

    Hypothalamic involvement in multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) is rare and endocrinopathies involving the hypothalamic-pituitary axis in patients with demyelinating conditions have rarely been reported. We present two cases of MS/NMOSD with associated hypothalamic-pituitary involvement and subsequent hypopituitarism, including the first report of a patient with hypothalamic demyelination causing panhypopituitarism. Differential diagnoses, including alemtuzumab-related and primary pituitary pathology are discussed. © 2018 Royal Australasian College of Physicians.

  20. Tracing Actual Causes

    Science.gov (United States)

    2016-08-08

    produce a full explanation. While related, this problem dif- fers from the problem of determining actual causes where the focus is on identifying...1987]. We prove that the decision problem for causal slices is DP1 - complete. DP1 is the class of computational problems that can be solved using an NP ...machine and a co- NP machine simultaneously. Based on this result, we further show that the decision problem for causal histories is in ΠP2 . Closely

  1. Anaerobic Digestion Foaming Causes

    OpenAIRE

    Ganidi, Nafsika

    2008-01-01

    Anaerobic digestion foaming has been encountered in several sewage treatment plants in the UK. Foaming has raised major concerns for the water utilities due to significant impacts on process efficiency and operational costs. Several foaming causes have been suggested over the past few years by researchers. However, the supporting experimental information is limited and in some cases site specific. The present report aimed to provide a better understanding of the anaerobic di...

  2. Hacking for a cause

    OpenAIRE

    Still, Brian

    2005-01-01

    This paper explores the concept of hacktivism, which is hacking for a political or social cause on the Internet. Generally hackers, even those hacking government–sponsored sites, have been negatively stereotyped as malicious thrill seekers or, worse yet, cyberterrorists. But increasingly there are more politically motivated hackers distancing themselves from cyberterrorism by engaging in hacktivism that is intent more upon disruption than disobedience. Certain hacktivists, in fact, have creat...

  3. Disrupted Refugee Family Life

    DEFF Research Database (Denmark)

    Shapiro, Ditte Krogh

    2017-01-01

    Fleeing civil war involves managing life threatening events and multiple disruptions of everyday life. The theoretical potentials of analysing the recreation of everyday family life among Syrian refugees in Denmark is explored based on conceptualizations that emphasize the collective agency...... of family members in social historical contexts. Studying the multiple perspectives of family members shows how social support conceptualized as care practises is conflictual in the changing everyday family practices that are transformed by policy. The purpose of studying how families manage to flee civil...... war and struggle to recreate an everyday life in exile is to contribute with contextualization and expansion of mainstream understandings of family life, suffering, and resilience in refugee family trajectories in multiple contexts....

  4. Inside the Family Firm

    DEFF Research Database (Denmark)

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

    2005-01-01

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

  5. 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...

  6. 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

  7. 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

  8. Darwin's Sacred Cause

    DEFF Research Database (Denmark)

    Kjærgaard, Peter C.

    2009-01-01

    As we are being flooded by Darwin lollipops, t-shirts, quills and stamps it is becoming increasingly difficult to be heard or seen in the commercialised celebration in 2009. Some are in the business for the science, but a lot are in it for profit. Accordingly, the Darwin industry has left the hands...... of scholarly specialists and been appropriated by money makers. One could not help thinking about this as, in the autumn of 2008, the publisher began hyping Darwin's Sacred Cause as ‘one of the major contributions to the worldwide Darwin anniversary celebrations in 2009' Udgivelsesdato: February...

  9. Fighting a lost cause

    OpenAIRE

    Haaf, Mario

    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 on prohibition and persecution by analyzing its origins and comparing the current approach with the failures of the alcohol prohibition in the 1920s in the United States. One of the main points th...

  10. [Epistaxis: causes and management].

    Science.gov (United States)

    Siwiec, H; Szymański, M; Szymańska, A; Klatka, J

    2001-01-01

    Evaluation of 265 patients treated in hospital due to nasal bleeding revealed that almost half of them suffered from hypertension and in about 30% of cases it was impossible to establish the cause of epistaxis. The most frequent way to stop the bleeding was anterior nasal packing and in case of failure posterior nasal packing together with anterior one. Posterior nasal packing with Foley's catheter is relatively simple and effective procedure. Introduction of superselective embolization of maxillary artery and dermoplasty in Rendu-Osler disease was very helpful.

  11. [Rarer causes of thyrotoxicosis].

    Science.gov (United States)

    Krysiak, Robert; Kowalcze, Karolina; Okopień, Bogusław

    2016-01-01

    Thyrotoxicosis is a pathological syndrome in which tissue is exposed to excessive amounts of circulating thyroid hormones. Including its subclinical form, it is considered as one of the most frequent endocrine disorders in the general population. If not detected in a timely fashion, thyrotoxicosis can have serious health consequences. The most common forms of thyrotoxicosis include diffuse toxic goiter (Graves' disease), toxic multinodular goiter (Plummer's disease), and toxic adenoma (Goetsch's disease). The significant progress in the fields of hormonal assessment, imaging procedures and molecular biology made in recent years has brought about great improvement in the identification, differentiation and treatment of many other disorders associated with thyrotoxicosis. Therefore, this paper discusses the etiopathogenesis, clinical manifestation, biochemical abnormalities and management of thyrotropinoma, resistance to thyroid hormone, de Quervain's, silent, acute, posttraumatic and radiation-induced thyroiditis, Riedel's goiter, differentiated thyroid cancer, struma ovarii, thyrotoxicosis factitia, other forms of iatrogenic thyrotoxicosis, gestational trophoblastic disease, neonatal Graves's disease, familial nonautoimmune hyperthyroidism and McCune-Albright syndrome. On the basis of available studies, some of whom were carried out in the recent years, we provide practical guidelines for clinical endocrinologists dealing with the diagnosis and treatment of thyrotoxicosis.

  12. Migraine- and dystonia-related disease-mutations of Na+/K+-ATPases: Relevance of behavioral studies in mice to disease symptoms and neurological manifestations in humans

    DEFF Research Database (Denmark)

    Bøttger, Pernille; Doganli, Canan; Lykke-Hartmann, Karin

    2012-01-01

    The two autosomal dominantly inherited neurological diseases: familial hemiplegic migraine type 2 (FHM2) and familial rapid-onset of dystonia-parkinsonism (Familial RDP) are caused by in vivo mutations of specific alpha subunits of the sodium–potassium pump (Na+/K+-ATPase). Intriguingly, patients...... with classical FHM2 and RDP symptoms additionally suffer from other manifestations, such as epilepsy/seizures and developmental disabilities. Recent studies of FHM2 and RDP mouse models provide valuable tools for dissecting the vital roles of the Na+/K+-ATPases, and we discuss their relevance to the complex...

  13. What causes cancer?

    International Nuclear Information System (INIS)

    Trichopoulos, D.; Li, F.P.; Hunter, D.J.

    1996-01-01

    Cancer, a major killer throughout human history, changed its grasp as humankind advanced industrially and technologically. Although the risk of a few types of cancer has declined dramatically in developed countries in this century, the incidence of the most significant forms of the disease has increased. Cancers of the lung, breast, prostate and colon and rectum have all become more frequent in countries where risk factors such as cigarette smoking, unhealthful dietary habits and exposure to dangerous chemicals at work or in the environment are now more common. As industrialization has proliferated, so, too, have the suspected causes of cancer. In recent years, news accounts have been full of warnings about all manner of modern conveniences, from pharmaceuticals to cellular telephones. Meanwhile the pace of technological advance makes it more vital than ever to single out definitive causes of cancer from an ever expanding array of possibilities. For this daunting task, researchers rely heavily on epidemiology. Epidemiologists identify factors that are common to cancer victims’ history and way of life and evaluate them in the context of current biological understanding. Ultimately, the evidence may persuade researchers that one or more of these factors or characteristics “cause” the disease— that is to say, exposure to them significantly increases the odds of the illness developing

  14. Genetic Causes of Rickets

    Science.gov (United States)

    Acar, Sezer; Demir, Korcan; Shi, Yufei

    2017-01-01

    Rickets is a metabolic bone disease that develops as a result of inadequate mineralization of growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Nutritional rickets remains a significant child health problem in developing countries. In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. The first group consists of genetic disorders of vitamin D biosynthesis and action, such as vitamin D-dependent rickets type 1A (VDDR1A), vitamin D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A (VDDR2A), and vitamin D-dependent rickets type 2B (VDDR2B). The second group involves genetic disorders of excessive renal phosphate loss (hereditary hypophosphatemic rickets) due to impairment in renal tubular phosphate reabsorption as a result of FGF23-related or FGF23-independent causes. In this review, we focus on clinical, laboratory and genetic characteristics of various types of hereditary rickets as well as differential diagnosis and treatment approaches. PMID:29280738

  15. Schizophrenia: management and family burden.

    Science.gov (United States)

    Sebit, M B

    2007-01-01

    To explore schizophrenia with respect to its management, causes, risk factors as well as the impact it has in families regarding the burden and social networks support. Desk literature reviews. The findings are that patients with schizophrenia typically have great difficulty following a medication regimen, but they also have the greatest potential for benefiting from adherence. As with other chronic diseases that lack a definitive cure, the individual's service/recovery plan must include treatment interventions directed towards decreasing manifestations of the illness, rehabilitative services, enhancing adaptive skills, and social support mobilization aimed at optimizing function and quality of life. Finally, this paper is not exhaustive, but a pointer for further readings.

  16. Cleidocranial dysplasia: A family report

    Directory of Open Access Journals (Sweden)

    Chelvan H

    2009-01-01

    Full Text Available A 10-year-old girl presented with a chief complaint of many unerupted teeth. Complete clinical and radiological examination of this patient confirmed the diagnosis of cleidocranial dysplasia (CCD. Her father also presented similar features with a lesser clinical severity. CCD is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor RUNX2 gene. Failure of tooth eruption is probably mainly due to this mutated gene in CCD patients. Interdisciplinary treatment approach is obligatory for rehabilitation of these patients. In confirmed cases, genetic counseling for family planning should certainly be advised.

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

    NARCIS (Netherlands)

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

    2012-01-01

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

  18. [Family therapy of encopresis].

    Science.gov (United States)

    Spitczok von Brisinski, Ingo; Lüttger, Fred

    2007-01-01

    Encopresis is a taboo symptom, which is connected with great suffering from mental pressure not only for the children concerned, but also their relatives. Family related approaches are indispensable to understand encopresis, because as a result of high symptom persistence and psychological comorbidity in many cases a purely behavior-therapeutic, symptom focused approach is not sufficient, and further psychotherapeutic interventions are necessary. There is a strong temporal correlation between family interaction and frequency of soiling and changes of interaction influence changes in soiling more than the other way round. In a literature review different family relationship patterns and approaches of family therapy are represented regarding encopresis. Meaningful differences for family therapy are represented regarding primary/secondary encopresis, encopresis with/without comorbid psychiatric disorder as well as encopresis with/without dysfunctional family interaction. Distinctions are made between symptom focused, not-symptom focused and combined family therapeutic approaches, which are illustrated with case examples of outpatient and inpatient treatment. Symptom focused family therapy like e.g. externalizing of the soiling is helpful also if no dysfunctional family interaction patterns are present, because all family members can contribute to treatment success according to their own resources.

  19. Extended family medicine training

    Science.gov (United States)

    Slade, Steve; Ross, Shelley; Lawrence, Kathrine; Archibald, Douglas; Mackay, Maria Palacios; Oandasan, Ivy F.

    2016-01-01

    Abstract Objective To examine trends in family medicine training at a time when substantial pedagogic change is under way, focusing on factors that relate to extended family medicine training. Design Aggregate-level secondary data analysis based on the Canadian Post-MD Education Registry. Setting Canada. Participants All Canadian citizens and permanent residents who were registered in postgraduate family medicine training programs within Canadian faculties of medicine from 1995 to 2013. Main outcome measures Number and proportion of family medicine residents exiting 2-year and extended (third-year and above) family medicine training programs, as well as the types and numbers of extended training programs offered in 2015. Results The proportion of family medicine trainees pursuing extended training almost doubled during the study period, going from 10.9% in 1995 to 21.1% in 2013. Men and Canadian medical graduates were more likely to take extended family medicine training. Among the 5 most recent family medicine exit cohorts (from 2009 to 2013), 25.9% of men completed extended training programs compared with 18.3% of women, and 23.1% of Canadian medical graduates completed extended training compared with 13.6% of international medical graduates. Family medicine programs vary substantially with respect to the proportion of their trainees who undertake extended training, ranging from a low of 12.3% to a high of 35.1% among trainees exiting from 2011 to 2013. Conclusion New initiatives, such as the Triple C Competency-based Curriculum, CanMEDS–Family Medicine, and Certificates of Added Competence, have emerged as part of family medicine education and credentialing. In acknowledgment of the potential effect of these initiatives, it is important that future research examine how pedagogic change and, in particular, extended training shapes the care family physicians offer their patients. As part of that research it will be important to measure the breadth and uptake of

  20. A study of the stressor, family environment and family burden in dissociative (conversion disorder patients

    Directory of Open Access Journals (Sweden)

    Kamal K Verma

    2017-01-01

    Full Text Available Background: Dissociative disorder is a stress-related disorder usually present in adolescent and younger age group. It is also accompanied with significant impairment in activity of daily living and family relationship. Family environment plays important role in initiation and maintenance of symptoms and this put significant burden on family. Aim and Objective: To study presence of stressor, family environment, and assessment of family burden in dissociative disorder patients. Material and Method: This was a cross-sectional observational study in which 100 dissociatives disorder patients were included after fulfilling inclusion criteria from both inpatients and outpatient department of psychiatry. Results: In our study major part of the sample were women 60 (60%, among them most of were housewife and educated up to primary school. According to a stressor, 63 (63% patients had family stress/problem and out of them, 35 (58.4 were women. Seventy-four (74% patients had dissociative convulsion and out of them, 45 (75% were women. The dissociative disorder patients cause a considerable degree of burden over other family members in both men and women. There is a significant difference found in the family environment in term of personal growth dimension, relationship dimension in both men and women. Conclusion: Present study concludes that dissociative disorder patients cause a considerable degree of burden over other family members in term of leisure, physical, mental, financial, and routines family interrelationship domains. The family environment in term of personal growth dimension, relationship dimension has a casual effect on symptoms of dissociative disorder patients.

  1. Impact of Childhood Epilepsy on the Family

    Directory of Open Access Journals (Sweden)

    Kerim Fazlıoglu

    2010-08-01

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

  2. Green certificates causing inconvenience?

    International Nuclear Information System (INIS)

    Torgersen, Lasse

    2002-01-01

    From early 2002, producers of green energy in selected countries have been able to benefit from generous financial support in the Netherlands. Thus, there has been increased sale of green certificates from Norway and Sweden. But the condition that physical energy delivery should accompany the certificates has caused a marked rise in the price of energy in transit through Germany to the Netherlands. This article discusses the green certificate concept and the experience gained from the Netherlands. One conclusion is that if large-scale trade with green certificates is introduced in Europe without the condition of accompanying energy delivery, then producers of hydro-electric power in Norway and Sweden may be the losers

  3. Internationalization of Family Businesses

    DEFF Research Database (Denmark)

    Boyd, Britta; Hollensen, Svend; Goto, Toshio

    2010-01-01

    This article focuses on the international joint venture formation process of family businesses. The reasoning behind Danfoss’ decision to cooperate with two competing family businesses in Japan and China as well as two nonfamily businesses in Canada and Britain will be analysed. In......-depth qualitative interviews reveal the driving forces on both sides and show how the psychic distance can be reduced between the different parent firms including the joint venture (JV) child. The purpose of this study is to compare equal split or equity joint ventures of non-family and family firms regarding...... the formation process including competences and cultures. The study indicates what core competences of a family business matter when cooperating in equal split joint ventures. Implications for family business owners and ideas for future research are discussed....

  4. Advancing family psychology.

    Science.gov (United States)

    Fiese, Barbara H

    2016-02-01

    To realize the broad and complex nature of the field of family psychology, I have slightly revised the mission statement of the Journal of Family Psychology (JFP) to capture contemporary scholarship in family psychology and to advance systems perspectives in this top-tier scientific journal. Over the next 6 years, I hope that authors will consider JFP as an outlet for their best work in the following areas: (1) JFP addresses societal challenges faced by families today; (2) JFP publishes important studies on what makes couple and family relationships work; (3) JFP is a leader in publishing reports that use cutting-edge sophisticated approaches to research design and data analysis; and (4) JFP imparts knowledge about effective therapy and prevention programs relevant to couples and families. The journal is also expanding its publication rate to eight issues per year. (c) 2016 APA, all rights reserved).

  5. Sharing family and household:

    DEFF Research Database (Denmark)

    Winther, Ida Wentzel

    Keynote: Family relationships are normatively assumed to be characterized by ‘sharing’, such as living together in the same home, occupying the same place, sharing stuff, blood and biology, spending special and ordinary time together, and consequently creating shared biographical experiences....... In that way, families are thrown into togetherness. At the same time, we see families in varying forms where 'sharing' is lived and contested differently. In Denmark, many children live in nuclear families, and many live in different variations of more than one household. For those who share household...... and family, 'sharing' will be a basic condition. No matter what, they should share life circumstances, more stories, more places and spaces, more households families with both kin and non-kin. This keynote addresses the particular of children’s experiences of living apart and/or living together in sharing...

  6. Pituitary gigantism: Causes and clinical characteristics.

    Science.gov (United States)

    Rostomyan, Liliya; Daly, Adrian F; Beckers, Albert

    2015-12-01

    Acromegaly and pituitary gigantism are very rare conditions resulting from excessive secretion of growth hormone (GH), usually by a pituitary adenoma. Pituitary gigantism occurs when GH excess overlaps with the period of rapid linear growth during childhood and adolescence. Until recently, its etiology and clinical characteristics have been poorly understood. Genetic and genomic causes have been identified in recent years that explain about half of cases of pituitary gigantism. We describe these recent discoveries and focus on some important settings in which gigantism can occur, including familial isolated pituitary adenomas (FIPA) and the newly described X-linked acrogigantism (X-LAG) syndrome. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  7. An unusual type of familial lipodystrophy

    DEFF Research Database (Denmark)

    Johansen, K; Rasmussen, M H; Kjems, L L

    1995-01-01

    A mother and her daughter with a novel type of familial partial lipodystrophy were studied. Both had atrophy of fat in the face, chest, and upper and lower limbs and abdominal obesity caused by intraabdominal fat accumulation. The mother had severe insulin resistance and impaired glucose tolerance...

  8. Infantile Colic | Roberts | South African Family Practice

    African Journals Online (AJOL)

    The physician's role is to ensure that there is no organic cause for the cry-ing, offer balanced advice on treatments, and provide support to the family. Colic is a diagnosis of ... Above all, parents need reassurance that their baby is healthy and that colic is self-limited with no long-term adverse effects. Physicians should watch ...

  9. Familial Transient Global Amnesia

    Directory of Open Access Journals (Sweden)

    R.Rhys Davies

    2012-12-01

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

  10. The DLGAP family

    DEFF Research Database (Denmark)

    Rasmussen, Andreas H; Rasmussen, Hanne B; Silahtaroglu, Asli

    2017-01-01

    downstream signalling in the neuron. The postsynaptic density, a highly specialized matrix, which is attached to the postsynaptic membrane, controls this downstream signalling. The postsynaptic density also resets the synapse after each synaptic firing. It is composed of numerous proteins including a family...... in the postsynapse, the DLGAP family seems to play a vital role in synaptic scaling by regulating the turnover of both ionotropic and metabotropic glutamate receptors in response to synaptic activity. DLGAP family has been directly linked to a variety of psychological and neurological disorders. In this review we...... focus on the direct and indirect role of DLGAP family on schizophrenia as well as other brain diseases....

  11. Familial hypercholesterolaemia in children and adolescents

    DEFF Research Database (Denmark)

    Wiegman, Albert; Gidding, Samuel S; Watts, Gerald F

    2015-01-01

    . If a parent has a genetic defect, the LDL-C cut-off for the child is ≥3.5 mmol/L (130 mg/dL). We recommend cascade screening of families using a combined phenotypic and genotypic strategy. In children, testing is recommended from age 5 years, or earlier if homozygous FH is suspected. A healthy lifestyle......Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated early in childhood, individuals with FH can have normal life expectancy. This consensus paper aims to improve awareness...... of the need for early detection and management of FH children. Familial hypercholesterolaemia is diagnosed either on phenotypic criteria, i.e. an elevated low-density lipoprotein cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature coronary artery disease and/or genetic diagnosis...

  12. Family planning and social position of women.

    Science.gov (United States)

    Begum, Hasna

    1993-04-01

    This presentation began with at least three biases: (i) Acceptance of a secular approach to the problem of artificially controlling human reproduction; (ii) acceptance of an absolute egalitarian position in matter of choices and applications of family planning methods; and (iii) acceptance of the view that a small family gives women more opportunities to flourish as humans. The conclusion of the presentation is: though in implementing family planning programmes much deviation from the egalitarian principle could be found, in reality the implementation itself does bring about some opportunities for women to enhance their position in society. Undoubtedly the malpractices in family planning programmes cause death and miseries to women. But, until better methods are invented for both male and female sexes to replace the harmful ones and the male members of the society feel equal responsibility in matters of controlling reproduction, women have now no other choice but to accept the lesser evil.

  13. Spending Less Time with the Family: The Decline of Family Ownership in the UK

    OpenAIRE

    Julian Franks; Colin Mayer; Stefano Rossi

    2003-01-01

    Family ownership was rapidly diluted in the twentieth century in Britain. The main cause was equity issued in the process of making acquisitions. In the first half of the century, it occurred in the absence of minority investor protection and relied on directors of target firms protecting the interests of shareholders. Families were able to retain control by occupying a disproportionate number of seats on the boards of firms. However, in the absence of large stakes, the rise of hostile takeov...

  14. Infective Causes of Epilepsy.

    Science.gov (United States)

    Bonello, M; Michael, B D; Solomon, T

    2015-06-01

    A wide range of infections of the central nervous system are responsible for both acute seizures and epilepsy. The pathogenesis and clinical semiology of the seizure disorders vary widely between the infective pathogens. The exact mechanisms underlying this are poorly understood, but appear, at least in part, to relate to the pathogen; the degree of cortical involvement; delays in treatment; and the host inflammatory response. The treatment of infective causes of seizures involves both symptomatic treatment with antiepileptic drugs and direct treatment of the underlying condition. In many cases, early treatment of the infection may affect the prognosis of the epilepsy syndrome. The greatest burden of acute and long-term infection-related seizures occurs in resource-poor settings, where both clinical and research facilities are often lacking to manage such patients adequately. Nevertheless, education programs may go a long way toward addressing the stigma, leading to improved diagnosis, management, and ultimately to better quality of life. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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

    Directory of Open Access Journals (Sweden)

    Fatemeh Ghaffari

    2010-02-01

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

  16. Familial Risks of Kidney Failure in Sweden: A Nationwide Family Study

    OpenAIRE

    Akrawi, Delshad Saleh; Li, Xinjun; Sundquist, Jan; Sundquist, Kristina; Zöller, Bengt

    2014-01-01

    BACKGROUND: The value of family history as a risk factor for kidney failure has not been determined in a nationwide setting. AIM: This nationwide family study aimed to determine familial risks for kidney failure in Sweden. METHODS: The Swedish multi-generation register on 0-78-year-old subjects were linked to the Swedish patient register and the Cause of death register for 1987-2010. Individuals diagnosed with acute kidney failure (n = 10063), chronic kidney failure (n = 18668), or unspecifie...

  17. Hypokalemic periodic paralysis: Three rare secondary causes

    Directory of Open Access Journals (Sweden)

    Prasanna Eswaradass Venkatesan

    2015-01-01

    Full Text Available Periodic paralysis is a rare neuromuscular disorder, related to a defect in muscle ion channels, characterized by episodes of painless muscle weakness, which may be precipitated by heavy exercise, fasting, or high-carbohydrate meals. Hypokalemic periodic paralysis may be familial (primary or secondary. Here, we report three cases of secondary causes of hypokalemic periodic paralysis. On evaluation, case 1 had distal renal tubular acidosis (RTA due to Sjogren′s syndrome, case 2 had drug induced proximal RTA (Fanconi′s syndrome and case 3 had thyrotoxicosis. Clinician must be aware of causes of secondary PP as recognition and diagnosis can completely prevent further attacks of periodic paralysis. Each of the above case is rare, but completely treatable if diagnosed. Low dose steroids with bicarbonate replacement in case 1, stopping tenofovir in case 2 and carbimazole therapy in case 3 prevented further attacks of periodic paralysis and cardiopulmonary complications.

  18. Defining crisis in families of individuals with autism spectrum disorders

    OpenAIRE

    Weiss, Jonathan A; Wingsiong, Aranda; Lunsky, Yona

    2014-01-01

    Parents of children diagnosed with autism spectrum disorder often report higher levels of depression, anxiety, and mental health–related issues. The combination of stressors and family adjustment difficulties can cause distress which may develop into a crisis. Understanding crisis in the family is important to mental health practice since it can serve as a guide in delivering service to at-risk families. This study investigated the subjective experience of crisis in 155 mothers of children di...

  19. Does intuition cause cooperation?

    Science.gov (United States)

    Verkoeijen, Peter P J L; Bouwmeester, Samantha

    2014-01-01

    Recently, 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 money to a common project when they had to decide quickly (i.e., a decision based on intuition) than when they were instructed to reflect and decide slowly. This intuitive-cooperation effect is of high scientific and practical importance because it argues against a central assumption of traditional economic and evolutionary models. The first experiment of present study was set up to examine the generality of the intuitive-cooperation effect and to further validate the experimental task producing the effect. In Experiment 1, we investigated Amazon Mechanical Turk (AMT) workers' contributions to a 4-player public goods game with a marginal return of 0.5 while we manipulated the knowledge about the other players' contribution to the public goods game (contribution known vs. contribution unknown), the identity of the other players (humans vs. computers randomly generating contributions) and the time constraint (time pressure/intuition vs. forced delay/reflection). However, the results of Experiment 1 failed to reveal an intuitive-cooperation effect. Furthermore, four subsequent direct replications attempts with AMT workers (Experiments 2a, 2b, 2c and Experiment 3, which was conducted with naïve/inexperienced participants) also failed to demonstrate intuitive-cooperation effects. Taken together, the results of the present study could not corroborate the idea that people are intuitively cooperative, hence suggesting that the theoretical relationship between intuition and cooperation should be further scrutinized.

  20. Does intuition cause cooperation?

    Directory of Open Access Journals (Sweden)

    Peter P J L Verkoeijen

    Full Text Available Recently, 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 money to a common project when they had to decide quickly (i.e., a decision based on intuition than when they were instructed to reflect and decide slowly. This intuitive-cooperation effect is of high scientific and practical importance because it argues against a central assumption of traditional economic and evolutionary models. The first experiment of present study was set up to examine the generality of the intuitive-cooperation effect and to further validate the experimental task producing the effect. In Experiment 1, we investigated Amazon Mechanical Turk (AMT workers' contributions to a 4-player public goods game with a marginal return of 0.5 while we manipulated the knowledge about the other players' contribution to the public goods game (contribution known vs. contribution unknown, the identity of the other players (humans vs. computers randomly generating contributions and the time constraint (time pressure/intuition vs. forced delay/reflection. However, the results of Experiment 1 failed to reveal an intuitive-cooperation effect. Furthermore, four subsequent direct replications attempts with AMT workers (Experiments 2a, 2b, 2c and Experiment 3, which was conducted with naïve/inexperienced participants also failed to demonstrate intuitive-cooperation effects. Taken together, the results of the present study could not corroborate the idea that people are intuitively cooperative, hence suggesting that the theoretical relationship between intuition and cooperation should be further scrutinized.