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1.
Acta Med Philipp ; 58(7): 129-141, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38882919

RESUMO

Objective: Healthcare workers (HCWs) are an often overlooked population in the face of a pandemic. With the myriad of researches focusing on the effect of Coronavirus Disease 2019 (COVID-19) on patients, this study aimed to illuminate the emotions, stressors and stress coping mechanisms of medical frontliners from the Department of Pediatrics working in Philippine General Hospital. Methods: A quantitative cross-sectional study was done among 130 HCWs ages 21-55 years old, mostly females (72%), recruited through convenience sampling. An adapted questionnaire from China was used and data were analyzed using means, T-test and Anova. Results: Results showed that HCWs predominantly felt a high sense of professional and ethical duty towards their jobs. Stressors include fear of transmitting the virus to their family and the shortage of manpower, while stress-relievers include knowing that their family are safe and having a good relationship with colleagues. Coping strategies include the use of personal protective measures and the hope of cure motivates them to continue working. Seeking psychiatric help is interestingly one of the least important motivational factors. Nurses, fellows, and residents significantly differ in responses about their feelings, stress-relievers, and coping strategies. Conclusion: HCWs are a vulnerable population since they endure multiple stressors but they are idealistic and resilient, hence the hospital should give adequate financial compensation and provide good work-life balance.

2.
Hum Brain Mapp ; 45(2): e26565, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38339954

RESUMO

This work illustrates the use of normative models in a longitudinal neuroimaging study of children aged 6-17 years and demonstrates how such models can be used to make meaningful comparisons in longitudinal studies, even when individuals are scanned with different scanners across successive study waves. More specifically, we first estimated a large-scale reference normative model using Hierarchical Bayesian Regression from N = 42,993 individuals across the lifespan and from dozens of sites. We then transfer these models to a longitudinal developmental cohort (N = 6285) with three measurement waves acquired on two different scanners that were unseen during estimation of the reference models. We show that the use of normative models provides individual deviation scores that are independent of scanner effects and efficiently accommodate inter-site variations. Moreover, we provide empirical evidence to guide the optimization of sample size for the transfer of prior knowledge about the distribution of regional cortical thicknesses. We show that a transfer set containing as few as 25 samples per site can lead to good performance metrics on the test set. Finally, we demonstrate the clinical utility of this approach by showing that deviation scores obtained from the transferred normative models are able to detect and chart morphological heterogeneity in individuals born preterm.


Assuntos
Córtex Cerebral , Imageamento por Ressonância Magnética , Criança , Recém-Nascido , Humanos , Imageamento por Ressonância Magnética/métodos , Teorema de Bayes , Córtex Cerebral/diagnóstico por imagem , Córtex Cerebral/anatomia & histologia , Neuroimagem/métodos , Aprendizado de Máquina , Encéfalo/diagnóstico por imagem
3.
Acta Medica Philippina ; : 1-12, 2024.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-1006392

RESUMO

Background@#As social media continue to grow as popular and convenient tools for acquiring and disseminating health information, the need to investigate its utilization by laypersons encountering common medical issues becomes increasingly essential. @*Objectives@#This study aimed to analyze the content posted in Facebook groups for Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency and how these engage the members of the group. @*Methods@#This study employed an inductive content analysis of user-posted content in both public and private Facebook groups catering specifically to G6PD deficiency. The G6PD Facebook groups with 10 or more posts within the past 12 months were selected for this study. Data were harvested from posts and comments using ExportComment. @*Results@#A total of 46 G6PD-related Facebook groups were identified. Of which, 19 were public and 27 were private groups, with an average membership of 5000-6000 accounts. After eligibility based on criteria and authorization for private groups, 3 public and 3 private groups were included, with the majority of these groups focused on sharing information. Five main themes of posted content were identified: diagnosis, management, beliefs, psychosocial factors, and medical requirements. “Diagnosis”-related posts referred to conversations about the causes and symptoms of G6PD, “management” referred to medication or diet, “beliefs” involved traditional or lay perceptions, “psychosocial factors” referred to posts that disclosed how psychosocial factors influenced G6PD deficiency practices, and “medical requirements” referred to documentation regarding the condition. The bulk of these posts used three strategies for communication: information-requesting, self-disclosure, and promotion of products/services. Information requests were the most common. @*Conclusion@#The results of the study showed opportunities and challenges in health education on G6PD, especially in evaluating the credibility and accuracy of the information given and received. Looking at the content and manner of communicating information noted, the newborn screening program may improve its advocacy and education campaign, and may develop targeted educational materials and effective dissemination strategies that could clarify, explain, or refute information and beliefs mostly shared on these platforms.


Assuntos
Deficiência de Glucosefosfato Desidrogenase , Grupos de Autoajuda
4.
ACS Omega ; 7(32): 28258-28264, 2022 Aug 16.
Artigo em Inglês | MEDLINE | ID: mdl-35990431

RESUMO

Niobium doping of TiO2 creates a conductive material with many new energy applications. When TiO2 is precipitated from HCl solutions containing minor Nb, the Nb in solution is quantitatively deposited with the TiO2. Here, we investigate the structure of Nb doped in anatase and rutile produced from ilmenite digested in hydrochloric acid. Nb K-edge X-ray absorption near edge structure (XANES) and extended X-ray absorption fine structure (EXAFS) are used to characterize the environment of 0.08 atom % Nb doped in TiO2. XANES shows clear structural differences between Nb-doped anatase and rutile. EXAFS for Nb demonstrates that Nb occupies a Ti site in TiO2 with no near neighbors of Nb. Hydrolysis of Ti and Nb from acid solution, followed by calcination, leads to a well dispersed doped material, with no segregation of Nb. Production of Nb-doped TiO2 by this method may be able to supply future demand for large quantities of the material and in energy applications where a low cost of production, from readily available natural resources, would be highly desirable.

5.
J Exp Psychol Appl ; 28(2): 412-422, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34138623

RESUMO

The Integrated Self-Categorization model of Autism (ISCA; Bertschy et al., 2019; Skorich & Haslam, 2021) argues that the theory of mind differences seen in autism arises from Enhanced Perceptual Functioning/Weak Central Coherence, via a dysfunctional self-categorization mechanism. The ISCA model also makes the novel prediction that phenomena that arise from self-categorization should also be affected in autistic people. In this article, we report three studies exploring this prediction in the context of one such phenomenon: Group homogeneity. We first measure participants' autistic traits, then ask them to make homogeneity judgments of their ingroup alone or their outgroup alone (in Study 1, and in the Alone conditions of Studies 2a and 2b); or of their ingroup in comparison to their outgroup or their outgroup in comparison to their ingroup (in the Compare conditions of Studies 2a and 2b). As predicted, we find that: the degree of autistic traits negatively predicts ratings of group homogeneity; this relationship is mediated by social identification/self-categorization; and typical comparison-related homogeneity effects are strengthened at higher relative to lower levels of autistic traits. These studies provide convergent evidence for the ISCA model and suggest important avenues for well-being and social skills interventions for autistic people. (PsycInfo Database Record (c) 2022 APA, all rights reserved).


Assuntos
Transtorno Autístico , Humanos , Julgamento , Identificação Social
6.
Front Chem ; 9: 706269, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34277573

RESUMO

The structure of lead-technetium pyrochlore has been refined in space group F d 3 ¯ m with a = 10.36584(2) Å using a combination of synchrotron X-ray and neutron powder diffraction data and confirmed via Electron Diffraction. The oxide is found to be oxygen deficient with a stoichiometry of Pb2Tc2O7-d. Displacive disorder of the Pb cations is evident from the refinements, as has been observed in Bi2Tc2O7-d. X-ray absorption spectroscopic measurements at the Tc K-edge demonstrate the valence of the Tc is greater than 4.0 as anticipated from the refined oxygen stoichiometry. Raman spectroscopy confirms the presence of disorder leading us to conclude that this pyrochlore is the first example of a valence V technetium oxide.

7.
Dev Cell ; 56(11): 1589-1602.e9, 2021 06 07.
Artigo em Inglês | MEDLINE | ID: mdl-33932332

RESUMO

Toll-like receptors are essential for animal development and survival, with conserved roles in innate immunity, tissue patterning, and cell behavior. The mechanisms by which Toll receptors signal to the nucleus are well characterized, but how Toll receptors generate rapid, localized signals at the cell membrane to produce acute changes in cell polarity and behavior is not known. We show that Drosophila Toll receptors direct epithelial convergent extension by inducing planar-polarized patterns of Src and PI3-kinase (PI3K) activity. Toll receptors target Src activity to specific sites at the membrane, and Src recruits PI3K to the Toll-2 complex through tyrosine phosphorylation of the Toll-2 cytoplasmic domain. Reducing Src or PI3K activity disrupts planar-polarized myosin assembly, cell intercalation, and convergent extension, whereas constitutive Src activity promotes ectopic PI3K and myosin cortical localization. These results demonstrate that Toll receptors direct cell polarity and behavior by locally mobilizing Src and PI3K activity.


Assuntos
Desenvolvimento Embrionário/genética , Fosfatidilinositol 3-Quinases/genética , Receptores Toll-Like/genética , Quinases da Família src/genética , Actomiosina/metabolismo , Animais , Membrana Celular/genética , Polaridade Celular/genética , Proteínas de Drosophila/genética , Drosophila melanogaster/genética , Drosophila melanogaster/crescimento & desenvolvimento , Morfogênese/genética
8.
Scand J Rheumatol ; 49(5): 405-411, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31801390

RESUMO

Objective: To evaluate clinical associations of anti-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) antibody (Ab) and statin exposure in necrotizing myopathy (NM) patients. Methods: NM without a known myositis-specific autoantibody (MSA) was ascertained from a large single-centre myositis database between 1985 and 2012. A comparison NM cohort included 32 anti-SRP+ autoantibody patients, and other control groups included 74 non-NM myositis patients and 21 non-myositis controls. Sera from all cases and controls were tested using a validated anti-HMGCR enzyme-linked immunosorbent assay. Clinical features including statin use and anti-HMGCR Ab status were compared between cases and controls. Results: Of the 256 NM muscle biopsies reviewed, only 48 subjects with available sera were identified as traditional MSA-negative NM. Anti-HMGCR positivity was significantly (p < 0.001) associated with MSA-negative NM [48% (23/48)] compared to all of the myositis and non-myositis controls [5% (6/127)]. Most anti-HMGCR Ab-positive NM patients had high titres of anti-HMGCR (83%) and a history of statin exposure (78%), along with severe muscle weakness, high creatine kinase (CK) levels (90% ≥ 5000 IU/L), a paucity of other organ manifestations, and the need for immunosuppression with prednisone and methotrexate, but generally favourable outcomes. Anti-HMGCR serum levels were associated with baseline CK levels but not muscle weakness. Conclusion: HMGCR Ab-positive NM patients are associated with statin exposure, have severe muscle weakness and high CK at presentation, lack other organ manifestations, and generally have favourable outcomes from immunosuppression. Anti-HMGCR Abs should be assessed in MSA-negative NM patients, particularly those with a history of statin exposure.


Assuntos
Autoanticorpos/sangue , Hidroximetilglutaril-CoA Redutases/imunologia , Músculo Esquelético/imunologia , Miosite/imunologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Bases de Dados Factuais , Feminino , Glucocorticoides/uso terapêutico , Humanos , Imunossupressores/uso terapêutico , Masculino , Pessoa de Meia-Idade , Debilidade Muscular/sangue , Debilidade Muscular/imunologia , Miosite/sangue , Miosite/tratamento farmacológico , Resultado do Tratamento
9.
Chemistry ; 18(22): 6825-34, 2012 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-22492361

RESUMO

A new ammine dual-cation borohydride, LiMg(BH(4))(3)(NH(3))(2), has been successfully synthesized simply by ball-milling of Mg(BH(4))(2) and LiBH(4)·NH(3). Structure analysis of the synthesized LiMg(BH(4))(3)(NH(3))(2) revealed that it crystallized in the space group P6(3) (no. 173) with lattice parameters of a=b=8.0002(1) Å, c=8.4276(1) Å, α=ß=90°, and γ=120° at 50 °C. A three-dimensional architecture is built up through corner-connecting BH(4) units. Strong N-H···H-B dihydrogen bonds exist between the NH(3) and BH(4) units, enabling LiMg(BH(4))(3)(NH(3))(2) to undergo dehydrogenation at a much lower temperature. Dehydrogenation studies have revealed that the LiMg(BH(4))(3)(NH(3))(2)/LiBH(4) composite is able to release over 8 wt% hydrogen below 200 °C, which is comparable to that released by Mg(BH(4))(3)(NH(3))(2). More importantly, it was found that release of the byproduct NH(3) in this system can be completely suppressed by adjusting the ratio of Mg(BH(4))(2) and LiBH(4)·NH(3). This chemical control route highlights a potential method for modifying the dehydrogenation properties of other ammine borohydride systems.

10.
Cerebellum ; 11(3): 761-70, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22198870

RESUMO

To date, growth of the human fetal cerebellum has been estimated primarily from linear measurements from ultrasound and 2D magnetic resonance imaging (MRI). In this study, we use 3D analytical methods to develop normative growth trajectories for the cerebellum in utero. We measured cerebellar volume, linear dimensions, and local surface curvature from 3D reconstructed MRI of the human fetal brain (N = 46). We found that cerebellar volume increased approximately 7-fold from 20 to 31 gestational weeks. The better fit of the exponential curve (R (2) = 0.96) compared to the linear curve (R (2) = 0.92) indicated acceleration in growth. Within-subject cerebellar and cerebral volumes were highly correlated (R (2) = 0.94), though the cerebellar percentage of total brain volume increased from approximately 2.4% to 3.7% (R (2) = 0.63). Right and left hemispheric volumes did not significantly differ. Transcerebellar diameter, vermal height, and vermal anterior to posterior diameter increased significantly at constant rates. From the local curvature analysis, we found that expansion along the inferior and superior aspects of the hemispheres resulted in decreased convexity, which is likely due to the physical constraints of the dura surrounding the cerebellum and the adjacent brainstem. The paired decrease in convexity along the inferior vermis and increased convexity of the medial hemisphere represents development of the paravermian fissure, which becomes more visible during this period. In this 3D morphometric analysis of the human fetal cerebellum, we have shown that cerebellar growth is accelerating at a greater pace than the cerebrum and described how cerebellar growth impacts the shape of the structure.


Assuntos
Cerebelo/anatomia & histologia , Cerebelo/embriologia , Adulto , Feminino , Desenvolvimento Fetal/fisiologia , Idade Gestacional , Humanos , Processamento de Imagem Assistida por Computador , Imageamento Tridimensional , Imageamento por Ressonância Magnética , Idade Materna , Gravidez , Ultrassonografia Pré-Natal/métodos , Adulto Jovem
11.
Dalton Trans ; 40(39): 10147-55, 2011 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-21894333

RESUMO

The new dipyridylamino/triazine ligand DDE (N(2),N(2),N(4),N(4)-tetraethyl-N(6),N(6)-di(pyridin-2-yl)-1,3,5-triazine-2,4,6-triamine) has been incorporated into the mononuclear Fe(II) SCO compounds cis-[Fe(II)(NCSe)(2)(DDE)(2)] (1), cis-[Fe(II)(NCBH(3))(2)(DDE)(2)] (2), and cis-[Fe(II)(NCS)(2)(DDE)(2)] (3). Magnetic susceptibility measurements reveal that each of 1, 2 and 3 undergoes a complete, continuous spin transition with a T(½) of ∼260 K, ∼300 K and ∼205 K, respectively. An analogue and isomorph of 1, cis-[Co(II)(NCSe)(2)(DDE)(2)] (4), remains high spin down to low temperatures. Variable temperature single crystal data reveal that 1 and 4 undergo a crystallographic phase transition (from orthorhombic Pbcn at high temperatures to monoclinic P2/c at low temperatures) accompanied by an order-disorder transition of ethyl moieties of the DDE ligand. In the Pbcn phase, the structures of 1 and 4 contain one crystallographically unique M(II) centre, while in the P2/c phase, 1 and 4 contain two crystallographically unique M(II) centres. Variable temperature powder X-ray diffraction experiments reveal that the crystallographic phase transition occurs at ∼250 K for 1. The occurrence of the concomitant order-disorder and crystallographic phase transitions undergone by 1 and 4 is not directly apparent in their magnetic susceptibility measurements, and this is likely due to the local environment of the M(II) centres remaining largely undisturbed as the transitions occur. The compound 2 is isostructural to 1 and 4 at low temperatures.

12.
Dalton Trans ; 40(27): 7228-33, 2011 Jul 21.
Artigo em Inglês | MEDLINE | ID: mdl-21655571

RESUMO

The structure of the perovskite SrTcO(3) has been investigated using both synchrotron X-ray and neutron powder diffraction. At room temperature SrTcO(3) is orthorhombic as a consequence of cooperative tilting of the corner sharing TcO(6) octahedra. The tilts are sequentially removed as the sample is heated with the oxide displaying the sequence of structres Pnma→Imma→I4/mcm→Pm ̅3m. Neutron powder diffraction data collected in the temperature range 4-1023 K indicate that SrTcO(3) has G-type antiferromagnetic structure, in which each Tc moment is antiparallel to its six nearest neighbours, below ∼1000 K. The magnetic structure is collinear antiferromagnetic with the technetium moments parallel to c-axis and can be described by the propagation vector k = [0,0,0] and the basis vector (0,0,A(z)). The same magnetic structure is observed in each of the four crystal structures.

13.
Int J Dev Neurosci ; 29(5): 529-36, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21530634

RESUMO

In the latter half of gestation (20-40 gestational weeks), human brain growth accelerates in conjunction with cortical folding and the deceleration of ventricular zone progenitor cell proliferation. These processes are reflected in changes in the volume of respective fetal tissue zones. Thus far, growth trajectories of the fetal tissue zones have been extracted primarily from 2D measurements on histological sections and magnetic resonance imaging (MRI). In this study, the volumes of major fetal zones-cortical plate (CP), subplate and intermediate zone (SP+IZ), germinal matrix (GMAT), deep gray nuclei (DG), and ventricles (VENT)--are calculated from automatic segmentation of motion-corrected, 3D reconstructed MRI. We analyzed 48 T2-weighted MRI scans from 39 normally developing fetuses in utero between 20.57 and 31.14 gestational weeks (GW). The supratentorial volume (STV) increased linearly at a rate of 15.22% per week. The SP+IZ (14.75% per week) and DG (15.56% per week) volumes increased at similar rates. The CP increased at a greater relative rate (18.00% per week), while the VENT (9.18% per week) changed more slowly. Therefore, CP increased as a fraction of STV and the VENT fraction declined. The total GMAT volume slightly increased then decreased after 25 GW. We did not detect volumetric sexual dimorphisms or total hemispheric volume asymmetries, which may emerge later in gestation. Further application of the automated fetal brain segmentation to later gestational ages will bridge the gap between volumetric studies of premature brain development and normal brain development in utero.


Assuntos
Encéfalo/anatomia & histologia , Encéfalo/embriologia , Feto/anatomia & histologia , Imageamento Tridimensional/métodos , Imageamento por Ressonância Magnética/métodos , Encéfalo/crescimento & desenvolvimento , Feminino , Feto/embriologia , Idade Gestacional , Humanos , Gravidez
14.
J Am Chem Soc ; 133(6): 1654-7, 2011 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-21268576

RESUMO

The technetium perovskite CaTcO(3) has been synthesized. Combining synchrotron X-ray and neutron diffraction, we found that CaTcO(3) is an antiferromagnetic with a surprisingly high Neel temperature of ∼800 K. The transition to the magnetic state does not involve a structural change, but there is obvious magnetostriction. Electronic structure calculations confirm the experimental results.

15.
J Laryngol Otol ; 124(7): 774-7, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20307357

RESUMO

OBJECTIVES: To investigate the prevalence of psychological distress in head and neck out-patients. DESIGN: We used the Hospital Anxiety and Depression Scale to screen 106 patients for mood disorders in a London head and neck ENT out-patient clinic. SETTING: Queen's Hospital, Romford, UK. PARTICIPANTS: One hundred and six patients attending a head and neck out-patient clinic. MAIN OUTCOME MEASURE: Hospital Anxiety and Depression Scale score. RESULTS: Approximately 39 per cent of patients had a possible anxiety disorder (10 per cent were rated as severe), and 27 per cent had possible depression (10 per cent were rated as severe). CONCLUSION: We recommend that a member of the head and neck multidisciplinary team should be trained to identify and correctly refer psychologically distressed patients to appropriate existing psychiatric services.


Assuntos
Ansiedade/psicologia , Transtorno Depressivo/psicologia , Neoplasias de Cabeça e Pescoço/psicologia , Ansiedade/etiologia , Atitude do Pessoal de Saúde , Transtorno Depressivo/etiologia , Humanos , Pacientes Ambulatoriais , Índice de Gravidade de Doença , Inquéritos e Questionários
16.
Prostate Cancer Prostatic Dis ; 13(2): 117-25, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20177423

RESUMO

Our previous work identified a chromosomal translocation t(4;6) in prostate cancer cell lines and primary tumors. Using probes located on 4q22 and 6q15, the breakpoints identified in LNCaP cells, we performed fluorescence in situ hybridization analysis to detect this translocation in a large series of clinical localized prostate cancer samples treated conservatively. We found that t(4;6)(q22;q15) occurred in 78 of 667 cases (11.7%). The t(4;6)(q22;q15) was not independently associated with patient outcome. However, it occurs more frequently in high clinical T stage, high tumor volume specimens and in those with high baseline PSA (P=0.001, 0.001 and 0.01, respectively). The t(4;6)(q22;q15) occurred more frequently in samples with two or more TMPRSS2:ERG fusion genes caused by internal deletion than in samples without these genomic alterations, but this correlation is not statistically significant (P=0.0628). The potential role of this translocation in the development of human prostate cancer is discussed.


Assuntos
Cromossomos Humanos Par 4/genética , Cromossomos Humanos Par 6/genética , Neoplasias da Próstata/genética , Translocação Genética , Instabilidade Genômica , Humanos , Hibridização in Situ Fluorescente , Masculino , Proteínas de Fusão Oncogênica/genética , Prognóstico , Neoplasias da Próstata/patologia
17.
J Synchrotron Radiat ; 16(Pt 6): 849-56, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19844023

RESUMO

Total scattering from nanocrystalline materials recorded on the Australian Synchrotron powder diffraction beamline has been analysed to produce atomic pair distribution functions (PDFs) for structural analysis. The capability of this beamline, which uses the massively parallel Mythen II detector, has been quantified with respect to PDF structure analysis. Data were recorded to a wavevector magnitude, Q, of 20.5 A(-1), with successful PDFs obtained for counting times as short as 10 s for crystalline LaB(6) and 180 s for nanocrystalline (47 A) anatase. This paper describes the aspects of a PDF experiment that are crucial to its success, with reference to the outcomes of analysis of data collected from nanocrystalline TiO(2) and microcrystalline LaB(6) and IrO(2).

18.
Rev Sci Instrum ; 80(8): 084102, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19725670

RESUMO

The design, construction, and commissioning of a stainless steel flow cell for in situ synchrotron x-ray diffraction studies of scale formation under Bayer processing conditions is described. The use of the cell is demonstrated by a study of Al(OH)(3) scale formation on a mild steel substrate from synthetic Bayer liquor at 70 degrees C. The cell design allows for interchangeable parts and substrates and would be suitable for the study of scale formation in other industrial processes.

19.
Cephalalgia ; 25(12): 1168-72, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16305605

RESUMO

Previously, we described a large Dutch family with hereditary vascular retinopathy (HVR), Raynaud's phenomenon and migraine. A locus for HVR was mapped on chromosome 3p21.1-p21.3, but the gene has not yet been identified. The fact that all three disorders share a vascular aetiology prompted us to study whether the HVR haplotype also contributed to Raynaud's phenomenon and migraine in this family. Whereas the parent-child transmission disequilibrium test (TDT) did not reach significance, the sibling TDT revealed that the HVR haplotype harbours a susceptibility factor for Raynaud's phenomenon and migraine. Identification of the HVR gene will improve the understanding of the pathophysiology of HVR, Raynaud's phenomenon and migraine.


Assuntos
Transtornos de Enxaqueca/epidemiologia , Transtornos de Enxaqueca/genética , Doença de Raynaud/epidemiologia , Doença de Raynaud/genética , Doenças Retinianas/epidemiologia , Doenças Retinianas/genética , Medição de Risco/métodos , Adolescente , Adulto , Criança , Comorbidade , Feminino , Genes Dominantes , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Haplótipos , Humanos , Masculino , Países Baixos/epidemiologia , Fenótipo , Prevalência , Locos de Características Quantitativas/genética , Característica Quantitativa Herdável , Análise de Sequência de DNA
20.
Neuropediatrics ; 35(5): 293-6, 2004 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-15534763

RESUMO

Alternating hemiplegia of childhood (AHC) is a rare disorder mainly characterised by attacks of hemiplegia and mental retardation. AHC has often been associated with migraine. Previously, we have excluded the involvement of the familial hemiplegic migraine (FHM) CACNA1A gene in four patients with AHC. A second gene for FHM was discovered recently: the ATP1A2 gene on chromosome 1q23, coding for the alpha 2 subunit of Na+,K+-ATPase. We performed a mutation analysis of the ATP1A2 gene in six patients, using direct sequencing, but found no mutations in any of the 23 exons. Other cerebral ion channel genes remain candidate genes for AHC.


Assuntos
Hemiplegia/genética , ATPase Trocadora de Sódio-Potássio/genética , Adolescente , Criança , Análise Mutacional de DNA , Feminino , Humanos , Enxaqueca com Aura/genética
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