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1.
Acta Chir Belg ; 120(3): 212-216, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31311431

RESUMO

There is a paucity of literature describing potential issues related to lateral hand dominance in general and cardiac surgery. Nonetheless, during surgical training left-handedness can produce difficulties in the operating room that are not always understood or accepted by supervising right-handed surgeons. These problems can be easily overcome by practice and anticipation. This report aims to address laterality related issues in cardiac surgery and provide insight into techniques that may aid the left handed surgeon in a right handed dominated surgical environment. An ergonomically different approach, more convenient for the left-handed trainee, may facilitate learning, enhance confidence and increase surgeon satisfaction both for the trainer and trainee.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Lateralidade Funcional , Cirurgiões/educação , Humanos
2.
Prog Urol ; 30(17): 1134-1139, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33153881

RESUMO

INTRODUCTION: Intermittent self-catheterisation has revolutionised the management of neurogenic bladder-sphincter dysfunctions. The Liquick Base catheter is characterised by a streamlined Ergothan tip. The purpose of this study is to assess the tolerance and perception of patients using this catheter. MATERIALS AND METHODS: A French prospective multicentre observational study was conducted on patients with neurogenic bladder-sphincter dysfunctions. Upon inclusion in the study, the doctor completed a questionnaire on the patient's pathology. After 3 and 6 months, the doctor checked for neurogenic developments or observations and looked for any complications relating to intermittent self-catheterisation. The patient completed a questionnaire to assess his or her perception of using the catheter. RESULTS: Out of 42 patients included in the study, two were excluded. Out of the 40 assessed patients (30 males, 10 females) with an average age of 50.1±14.9 years, there were no reported cases of false passage. Bleeding occurred at least once in 10 patients (25%) in the first three months and in three out of 20 patients (15%) between 3 and 6 months. Two (5%) patients sought medical attention in the first three months for complications related to the catheter and 4 patients sought medical attention (10%) between 3 and 6 months. After 3 months 90% of patients were still using the catheter and after 6 months 90% of patients were still using the catheter. CONCLUSION: The Liquick Base catheter is well tolerated. Patient perception is positive for all parameters being examined, leading to the continued use of the catheter in 90% of cases. LEVEL OF EVIDENCE: 2.


Assuntos
Atitude Frente a Saúde , Preferência do Paciente , Bexiga Urinaria Neurogênica/terapia , Cateterismo Urinário/instrumentação , Cateteres Urinários , Adulto , Idoso , Desenho de Equipamento , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Autorrelato , Cateteres Urinários/efeitos adversos
3.
J Appl Toxicol ; 36(10): 1276-83, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-26922875

RESUMO

This study was designed to evaluate markers of systemic oxidative stress and lung histopathology following subacute exposure to geogenic dust with varying heavy metal content collected from a natural setting prone to wind erosion and used heavily for off-road vehicle recreation. Adult female B6C3F1 mice were exposed to several concentrations of dust collected from seven different types of surfaces at the Nellis Dunes Recreation Area in Clark County, Nevada, designated here as CBN 1-7. Dust representing each of the seven surface types, with an average median diameter of 4.2 µm, was selected and administered via oropharyngeal aspiration to mice at concentrations from 0.01 to 100 mg of dust kg(-1) of body weight. Exposures were given four times spaced a week apart over a 28 day period to mimic a month of weekend exposures. Lung pathology was evaluated while plasma markers of oxidative stress included levels of reactive oxygen and nitrogen species, superoxide dismutase, total antioxidant capacity and total glutathione. Overall, results of these assays to evaluate markers of oxidative stress indicate that no single CBN surface type was able to consistently induce markers of systemic oxidative stress at a particular dose or in a dose-response manner. All surface types were able to induce some level of lung inflammation, typically at the highest exposure levels. These data suggest that dust from the Nellis Dunes Recreation Area may present a potential health risk, but additional studies are necessary to characterize the full extent of health risks to humans. Copyright © 2016 John Wiley & Sons, Ltd.


Assuntos
Poeira/análise , Exposição por Inalação/análise , Pulmão/efeitos dos fármacos , Pulmão/patologia , Metais Pesados/toxicidade , Estresse Oxidativo/efeitos dos fármacos , Animais , Biomarcadores/sangue , Relação Dose-Resposta a Droga , Feminino , Sedimentos Geológicos/química , Pulmão/metabolismo , Metais Pesados/análise , Camundongos Endogâmicos , Nevada , Tamanho da Partícula , Pneumonia/induzido quimicamente , Pneumonia/metabolismo , Pneumonia/patologia , Propriedades de Superfície
4.
Acta Chir Belg ; 115(6): 433-5, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26763845

RESUMO

We present a case of post-infarction Left Ventricular Free Wall Rupture (LVFWR), in which conservative treatment was successfully applied. A 48-year old male patient presented at our emergency department with abdominal pain and a clinical presentation of shock. There had been an episode of chest pain three days before admission. Electrocardiogram was suggestive for old myocardial infarction. Coronarography revealed an occlusion of a diagonal branch. Computed Tomography scan was performed to exclude a rupturing aortic aneurysm, but a large pericardial effusion was seen. Echocardiography confirmed the diagnosis of cardiac tamponade and pericardiocentesis was performed. Conservative treatment consisting of bed rest, blood pressure control and beta-blocker therapy was applied, allowing the patient to be discharged after 10 days. The diagnosis of LVFWR was confirmed by cardiac magnetic resonance imaging.Surgery is considered as the golden standard in treatment of LVFWR. This case illustrates that in selected patients conservative treatment is possible.


Assuntos
Ruptura Cardíaca/diagnóstico , Ruptura Cardíaca/terapia , Antagonistas Adrenérgicos beta/uso terapêutico , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Anti-Hipertensivos/uso terapêutico , Repouso em Cama , Humanos , Masculino , Pessoa de Meia-Idade
5.
Acta Chir Belg ; 114(2): 99-104, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25073206

RESUMO

BACKGROUND: We performed a retrospective analysis of the maze IV procedures performed in our surgical department for concomitant atrial fibrillation. METHODS: Preoperative, in-hospital and postoperative follow-up data were collected from 46 consecutive patients who underwent the maze IV operation between April 2006 and December 2010. All electrocardiograms and Holters were reviewed. RESULTS: One patient died in-hospital. During a mean follow-up of 25 +/- 16.3 months seven patients died: two related to a hemorrhagic stroke, one due to right ventricular failure, the remainder deaths were not cardiac related. The success rate, defined as no recurrence of AF or atrial flutter with a blanking period of 6 months postoperatively, was 73.7%. Plots of probability of freedom of atrial fibrillation over time are drawn and reach a stable level after one year. CONCLUSIONS: The mid term results of the maze IV procedures for concomitant atrial fibrillation are very good. The results are stable for the remainder of follow-up.


Assuntos
Fibrilação Atrial/cirurgia , Ablação por Cateter , Idoso , Fibrilação Atrial/diagnóstico , Fibrilação Atrial/mortalidade , Intervalo Livre de Doença , Cardioversão Elétrica , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Estudos Retrospectivos , Resultado do Tratamento
6.
Acta Crystallogr B ; 68(Pt 1): 80-8, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22267561

RESUMO

Single-crystal diffuse X-ray scattering from paracetamol polymorphs is successfully calculated with Monte Carlo (MC) models that are used to simulate the crystals. In order to obtain the correct model appropriate force constants are required that describe the interatomic potentials used in the MC algorithm. Coefficients for an empirical 'Buckingham'-type formula are used to determine these force constants. These coefficients are subsequently refined using the least-squares method and are found to converge on similar values for both polymorphic forms. An investigation of the correlation space generated from each model provides what would be expected given that strong displacive correlations exist between the molecules comprising the densely hydrogen-bonded layers. More disordered motions between these layers are present in the model for form (II) as opposed to form (I). An investigation into the peculiarities of librational disorder was also conducted, however, correlation values turn out to be so small that any structural information concerning librational correlation is inconclusive. The purpose of this experiment was to identify if the diffuse scattering features could provide further insight into understanding the physical reasoning behind the metastability of form (II). The form (II) → (I) phase transition is also not currently well understood and usually phase transitional information can be obtained from pronounced diffuse scattering features. Since the diffuse scattering is modelled adequately using harmonic potentials it is our conjecture that the 'diffuse' is essentially thermal in origin and does not afford any extra information about the form (II) → (I) phase transition.

7.
J Phys Condens Matter ; 23(6): 065401, 2011 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-21406926

RESUMO

The family of two-dimensional magnetic materials M(II)PS(3) where M = Mn, Fe, Ni, Mg, Zn, etc shows a wide range of fascinating magnetic behaviour. It also shows potentially useful chemical properties including intercalation of nonlinear optical molecules and lithium ions. These properties are due to a crystal structure in which the ab planes are well-ordered in the plane but poorly correlated along c. Here, the short-range ordering is modelled in NiPS(3) and Ni(1 - x)Mg(x)PS(3) (x = 0.3). X-ray diffuse scattering from NiPS(3) shows pronounced streaking along c, indicative of stacking faulting in these layered compounds. Electron diffraction from Ni(1 - x)Mg(x)PS(3) (x = 0.3) shows substantial diffuse scattering due to short-range order within the ab plane, and this can be modelled by allowing the metal species to cluster. The possibility of clustering has implications for interpretation of the magnetic behaviour of the family, including the glassiness observed in Fe(1 - x)Mn(x)PS(3).

8.
Spinal Cord ; 49(7): 844-50, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21339763

RESUMO

STUDY DESIGN: Self-catheterising males aged ≥18 years with spinal cord lesion and normal/impaired urethral sensation were enrolled in this comparative, randomised, crossover and open-labelled multicentre trial. OBJECTIVES: When possible, intermittent catheterisation is the preferred method of bladder emptying for neurogenic bladder dysfunction. Hydrophilic-coated catheters have improved safety and ease of use, and a new compact catheter for men has been developed to improve discretion. METHODS: Participants self-catheterised at least four times daily for 14 days with a standard or compact catheter. The primary outcome measure was discomfort, using a visual analogue scale. Non-inferiority was defined as a difference in mean discomfort score of <0.9 cm. Other assessments included ease of use, discretion and the degree of pain, stinging or resistance. RESULTS: A total of 36 individuals participated and 30 were included in the intention-to-treat analysis. The mean difference between catheters for participant discomfort was -0.347 cm (95% confidence intervals: -1.493, 0.800). There were significant differences (P≤0.0001) in favour of the compact catheter for disposal and discretion, and inserting, storing, carrying and controlling the catheter. Fewer participants experienced resistance with the compact catheter. Participants were less likely to touch the coated part of the compact catheter. One adverse event was reported for each catheter. CONCLUSIONS: The coated compact catheter is at least as acceptable to the user as the standard catheter, with no inferiority observed in the level of discomfort. Secondary endpoints suggest that there are advantages of using the compact catheter, particularly with regard to discretion and ease of use. SETTING: France/Denmark.


Assuntos
Cateterismo Uretral Intermitente/efeitos adversos , Cateterismo Uretral Intermitente/instrumentação , Traumatismos da Medula Espinal/fisiopatologia , Bexiga Urinaria Neurogênica/fisiopatologia , Bexiga Urinaria Neurogênica/terapia , Adulto , Idoso , Catéteres/efeitos adversos , Catéteres/normas , Estudos Cross-Over , Humanos , Cateterismo Uretral Intermitente/métodos , Masculino , Pessoa de Meia-Idade , Traumatismos da Medula Espinal/complicações , Bexiga Urinaria Neurogênica/etiologia , Adulto Jovem
9.
Commun Agric Appl Biol Sci ; 76(3): 457-65, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22696953

RESUMO

During summer the parasitoid Aphelinus mali may certainly reduce the infestation of woolly apple aphid (Eriosoma lanigerum), but studies on the single interaction rarely indicate sufficient biological control in the period May-June. In this period chemical control by spirotetramat or pirimicarb remains indispensable in order to anticipate on dense migration waves and subsequent colonization of extension shoots by E. lanigerum. The limited parasitation by A. mali around flowering is linked with a delayed emergence from diapause and with a slower reproduction rate than its host. In 2010 and 2011 the first adult flights monitored on yellow sticky traps corresponded perfectly with the currently used prediction models for A. mali. Further accurate monitoring all along the season enabled also to determine a well defined endo-parasitic phase of A. mali occurring after the small peak observed around flowering. During this endo-parasitic phase A. mali larvae reside inside their mummified host. Compounds with higher acute toxicity on A. mali adults, like chloronicotinyl insecticides (CNI's), are preferably positioned here. Selectivity in the time can then be claimed. Respecting this principle, the further parasitation potential of A. mali in summer is not hampered. Preservation of the first peak of flights of A. mali in the pre-flowering period is essential for an exponential flight increase. This is essential for the parasitation of E. lanigerum in summer, which constitutes a valuable complement in the integrated control strategy.


Assuntos
Afídeos/parasitologia , Malus/parasitologia , Controle Biológico de Vetores/métodos , Doenças das Plantas/parasitologia , Vespas/fisiologia , Animais , Afídeos/fisiologia , Malus/crescimento & desenvolvimento , Estações do Ano , Vespas/crescimento & desenvolvimento
10.
Clin Exp Allergy ; 40(5): 795-804, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20184604

RESUMO

BACKGROUND: Clinical trials investigating the therapeutic effect of probiotics on atopic dermatitis (AD) show inconsistent results. Better results can possibly be achieved by combining probiotics with prebiotics, i.e. synbiotics. OBJECTIVE: To investigate the therapeutic effect of a synbiotic mixture on the severity of AD in infants. METHODS: In a double-blind, placebo-controlled multi-centre trial, 90 infants with AD [SCORing Atopic Dermatitis (SCORAD) score > or =15], aged < 7 months and exclusively formula fed, were randomly assigned to receive either an extensively hydrolysed formula with Bifidobacterium breve M-16V and a galacto-/fructooligosaccharide mixture (Immunofortis), or the same formula without synbiotics for 12 weeks. The primary outcome was severity of AD, assessed using the SCORAD index. A secondary outcome measure was intestinal microbiota composition. RESULTS: There was no difference in SCORAD score improvement between the synbiotic and the placebo group. The synbiotic group did have a significantly higher percentage of bifidobacteria (54.7% vs. 30.1%, P<0.001) and significantly lower percentages of Clostridium lituseburense/Clostridium histolyticum (0.5 vs. 1.8, P=0.02) and Eubacterium rectale/Clostridium coccoides (7.5 vs. 38.1, P<0.001) after intervention than the placebo group. In the subgroup of infants with IgE-associated AD (n=48), SCORAD score improvement was significantly greater in the synbiotic than in the placebo group at week 12 (-18.1 vs. -13.5 points, P=0.04). CONCLUSIONS: This synbiotic mixture does not have a beneficial effect on AD severity in infants, although it does successfully modulate their intestinal microbiota. Further randomized-controlled trials should explore a possible beneficial effect in IgE-associated AD.


Assuntos
Dermatite Atópica/terapia , Fórmulas Infantis/administração & dosagem , Probióticos/administração & dosagem , Método Duplo-Cego , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Países Baixos , Resultado do Tratamento
11.
Acta Crystallogr B ; 66(Pt 6): 696-707, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21099031

RESUMO

Full three-dimensional diffuse scattering data have been recorded for both polymorphic forms [(I) and (II)] of aspirin and these data have been analysed using Monte Carlo computer modelling. The observed scattering in form (I) is well reproduced by a simple harmonic model of thermally induced displacements. The data for form (II) show, in addition to thermal diffuse scattering (TDS) similar to that in form (I), diffuse streaks originating from stacking fault-like defects as well as other effects that can be attributed to strain induced by these defects. The present study has provided strong evidence that the aspirin form (II) structure is a true polymorph with a structure quite distinct from that of form (I). The diffuse scattering evidence presented shows that crystals of form (II) are essentially composed of large single domains of the form (II) lattice with a relatively small volume fraction of intrinsic planar defects or faults comprising misoriented bilayers of molecular dimers. There is evidence of some local aggregation of these defect bilayers to form small included regions of the form (I) structure. Evidence is also presented that shows that the strain effects arise from the mismatch of molecular packing between the defect region and the surrounding form (II) lattice. This occurs at the edges of the planar defects in the b direction only.


Assuntos
Aspirina/química , Simulação por Computador , Cristalização , Modelos Moleculares , Conformação Molecular , Método de Monte Carlo , Transição de Fase , Temperatura
12.
Mol Psychiatry ; 13(4): 442-50, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17579605

RESUMO

We report the results of a 10 cM density genome-wide scan and further fine mapping of three chromosomal candidate regions in 10 Belgian multigenerational families with bipolar (BP) disorder. This two-stage approach revealed significant evidence for linkage on chromosome 10q21.3-10q22.3, showing a maximum multipoint parametric heterogeneity logarithm of odds (HLOD) score of 3.28 and a nonparametric linkage (NPL) score of 4.00. Most of the chromosome 10q evidence was derived from a single, large Ashkenazi Jewish pedigree. Haplotype analysis in this pedigree shows that the patients share a 14-marker haplotype, defining a chromosomal candidate region of 19.2 cM. This region was reported previously as a candidate region for BP disorder in several independent linkage analysis studies and in one large meta-analysis. It was also implicated in a linkage study on schizophrenia (SZ) in Ashkenazi Jewish families. Additionally, we found suggestive evidence for linkage on chromosome 19q13.2-13.4 (HLOD 2.01, NPL 1.09) and chromosome 7q21-q22 (HLOD 1.45, NPL 2.28). Together, these observations suggest that a gene located on chromosome 10q21.3-10q22.3 is underlying the susceptibility both for SZ and for BP disorder in at least the Ashkenazi Jewish population.


Assuntos
Transtorno Bipolar/genética , Cromossomos Humanos Par 10 , Saúde da Família , Predisposição Genética para Doença , Adulto , Mapeamento Cromossômico/métodos , Feminino , Ligação Genética , Genótipo , Humanos , Judeus , Escore Lod , Masculino , Razão de Chances
13.
Acta Crystallogr B ; 65(Pt 3): 382-92, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19461149

RESUMO

The drug benzocaine (ethyl 4-aminobenzoate), commonly used as a local anaesthetic, is a bimorphic solid at room temperature. Form (I) is monoclinic P2(1)/c, while the metastable form (II) is orthorhombic P2(1)2(1)2(1). Three-dimensional diffuse X-ray scattering data have been collected for the two forms on the 11-ID-B beamline at the Advanced Photon Source (APS). Both forms show strong and highly structured diffuse scattering. The data have been interpreted and analysed using Monte Carlo (MC) modelling on the basis that the scattering is purely thermal in origin and indicates the presence of highly correlated molecular motions. In both forms (I) and (II) broad diffuse streaks are observed in the 0kl section which indicate strong longitudinal displacement correlations between molecules in the 031 directions, extending over distances of up to 50 A. Streaks extending between Bragg peaks in the hk0 section normal to [100] correspond to correlated motions of chains of molecules extending along a that are linked by N-H...O=C hydrogen bonds and which occur together as coplanar ribbon pairs. The main difference between the two forms is in the dynamical behaviour of the ribbon pairs and in particular how they are able to slide relative to each other. While for form (I) a model involving harmonic springs is able to describe the motion satisfactorily, as simple excursions away from the average structure, there is evidence in form (II) of anharmonic effects that are precursors of a phase transition to a new low-temperature phase, form (III), that was subsequently found.


Assuntos
Benzocaína/química , Temperatura , Simulação por Computador , Cristalização , Cristalografia por Raios X , Modelos Moleculares , Estrutura Molecular , Método de Monte Carlo , Transição de Fase
14.
J Phys Condens Matter ; 21(12): 124206, 2009 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-21817448

RESUMO

The crystal and magnetic structures of LaCa(2)Fe(3)O(8) and NdCa(2)Fe(3)O(8) have been established using a combination of x-ray, neutron and electron diffraction. It was already considered likely that LaCa(2)Fe(3)O(8) and NdCa(2)Fe(3)O(8) were made up of stacked perovskite-like layers of FeO(6) octahedra, with every third layer being replaced by a layer of tetrahedrally coordinated Fe, rather like a variation on the Brownmillerite (Ca(2)Fe(2)O(5)) structure type. We have gone further and determined a likely space group for this Grenier phase and determined the magnetic structure of the compounds at room temperature. The space group is found to be P 2(1)ma (b axis as the long axis), and the crystal structure has been refined, subject to the stacking faulting along the long axis that is apparent in electron diffraction patterns. The magnetic structure of LaCa(2)Fe(3)O(8) is shown to consist of antiferromagnetically ordered Fe(3+) ions on a collinear G-type antiferromagnetic structure, with the magnetic moments most likely (anti)parallel with the c axis, and of magnitude 3.4 ± 0.2µ(B) (3.6 ± 0.2µ(B) for NdCa(2)Fe(3)O(8)). The result is reasonable given the magnetic structures of the end members of the La(1-x)Ca(x)FeO(3) series, LaFeO(3) (x = 0) and Ca(2)Fe(2)O(5) (x = 1).

15.
J Phys Condens Matter ; 21(12): 124204, 2009 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-21817446

RESUMO

Neutron diffuse scattering is used to explore the short-range order (SRO) in deuterated para-terphenyl, C(18)D(14). The crystal shows SRO because the central of the three phenyl groups of each molecule can twist positively or negatively and these twists are correlated over the local scale. The presence of incipient Bragg peaks at [Formula: see text] at 200 K shows that these flips are negatively correlated along the a direction (nearest neighbour correlation coefficient of ∼-0.3) and b direction (nearest neighbour correlation coefficient of ∼-0.87) and appear essentially uncorrelated along c. Diffuse peak anisotropy indicates that the range of the correlations along b is found to be ∼3 times that along a. These correlations persist, although weaker, at room temperature. A Monte Carlo simulation was used to impose a correlation structure on the population of central ring twists that was deduced from Bragg scattering. By then allowing displacive relaxation of the structure, the observed diffuse scattering was well reproduced. Modelling the displacive motions of molecules showed that the positions of nearest ab-plane neighbour molecules are strongly positively correlated, particularly for motions approximately parallel to a, while the displacive correlations are weaker between molecules stacked along c. The apparent contradiction that the displacements are most strongly correlated along a while the occupancies are most strongly correlated along b is explained in terms of the connectivity of molecular interactions.

16.
Hum Mutat ; 29(1): 53-8, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18157829

RESUMO

Ubiquitin-positive, tau-negative, frontotemporal dementia (FTD) is caused by null mutations in progranulin (PGRN; HUGO gene symbol GRN), suggesting a haploinsufficiency mechanism. Since whole gene deletions also lead to the loss of a functional allele, we performed systematic quantitative analyses of PGRN in a series of 103 Belgian FTD patients. We identified in one patient (1%) a genomic deletion that was absent in 267 control individuals. The deleted segment was between 54 and 69 kb in length and comprised PGRN and two centromeric neighboring genes RPIP8 (HUGO gene symbol RUNDC3A) and SLC25A39. The patient presented clinically with typical FTD without additional symptoms, consistent with haploinsufficiency of PGRN being the only gene contributing to the disease phenotype. This study demonstrates that reduced PGRN in absence of mutant protein is sufficient to cause neurodegeneration and that previously reported PGRN mutation frequencies are underestimated.


Assuntos
Demência/genética , Peptídeos e Proteínas de Sinalização Intercelular/genética , Deleção de Sequência , Idoso , Bélgica , Mapeamento Cromossômico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Progranulinas
17.
Clin Genet ; 74(3): 223-32, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18616530

RESUMO

Hearing loss is the most frequent sensorineural disorder affecting 1 in 1000 newborns. In more than half of these babies, the hearing loss is inherited. Hereditary hearing loss is a very heterogeneous trait with about 100 gene localizations and 44 gene identifications for non-syndromic hearing loss. Transmembrane channel-like gene 1 (TMC1) has been identified as the disease-causing gene for autosomal dominant and autosomal recessive non-syndromic hearing loss at the DFNA36 and DFNB7/11 loci, respectively. To date, 2 dominant and 18 recessive TMC1 mutations have been reported as the cause of hearing loss in 34 families. In this report, we describe linkage to DFNA36 and DFNB7/11 in 1 family with dominant and 10 families with recessive non-syndromic sensorineural hearing loss. In addition, mutation analysis of TMC1 was performed in 51 familial Turkish patients with autosomal recessive hearing loss. TMC1 mutations were identified in seven of the families segregating recessive hearing loss. The pathogenic variants we found included two known mutations, c.100C>T and c.1165C>T, and four new mutations, c.2350C>T, c.776+1G>A, c.767delT and c.1166G>A. The absence of TMC1 mutations in the remaining six linked families implies the presence of mutations outside the coding region of this gene or alternatively at least one additional deafness-causing gene in this region. The analysis of copy number variations in TMC1 as well as DNA sequencing of 15 additional candidate genes did not reveal any proven pathogenic changes, leaving both hypotheses open.


Assuntos
Surdez/genética , Ligação Genética , Perda Auditiva/genética , Proteínas de Membrana/genética , Mutação , Análise Mutacional de DNA , Éxons , Família , Dosagem de Genes , Humanos
18.
Acta Crystallogr A ; 64(Pt 1): 23-32, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18156669

RESUMO

Studies of diffuse scattering had a prominent place in the first issue of Acta Crystallographica 60 years ago at a time when conventional crystallography (determination of the average structure from Bragg peaks) was in its infancy. Since that time, conventional crystallography has developed enormously while diffuse-scattering analysis has seemingly lagged well behind. The paper highlights some of the extra difficulties involved in the measurement, interpretation and analysis of diffuse scattering and plots the progress that has been made. With the advent of the latest X-ray and neutron sources, area detectors and the ever-increasing power of computers, most disorder problems are now tractable. Two recent contrasting examples are described which highlight what can be achieved by current methods.

19.
Acta Crystallogr B ; 64(Pt 5): 633-43, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-18799851

RESUMO

Three-dimensional X-ray diffuse scattering data have been collected at room temperature for form (II) of the trimorphic molecular system p-(N-methylbenzylidene)-p-methylaniline. Although this polymorph has been reported to have a perfectly normal ordered average structure, strong and highly structured diffuse scattering was observed, indicating that substantial thermal disorder is present. A diffuse scattering analysis has been carried out using Monte Carlo simulation techniques. Narrow streaks of intensity extending between Bragg peaks in the h0l section were found to arise from planes of diffuse scattering in three dimensions. These are caused by highly correlated molecular displacements along chains of end-to-end disposed molecules running in the a-c direction, corresponding to methyl-methyl intermolecular interactions. A second significant feature--rods of diffuse scattering running in the b* direction--indicates that molecular layers normal to b have a tendency to undergo lateral displacements with little correlation between layers. Finally, the internal flexibility of the molecule is required for a best fit. Changes in the two dihedral angles are found to be strongly correlated and show large excursions (> +/- 20 degrees) from the average values. All of these features suggest possible mechanisms for the way in which form (II) might transform to other polymorphs.

20.
J Small Anim Pract ; 59(12): 777-782, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30362215

RESUMO

OBJECTIVES: To compare two minimally invasive enilconazole infusion protocols for the treatment of canine sinonasal aspergillosis and evaluate the importance of complete endoscopic debridement in determining first treatment success rate. MATERIALS AND METHODS: Data for 48 dogs with confirmed sinonasal aspergillosis treated with endoscopic debridement followed by per-endoscopic enilconazole infusion were collected. Twenty-four dogs were treated according to the previously published 1-hour infusion protocol and 24 dogs underwent a simplified 15-minute infusion protocol. Completeness of debridement, evaluated as partial or complete at the end of the procedure and outcome after one or several treatments were assessed in all dogs. Multi-variable analysis was performed to derive odds ratios and 95% confidence intervals. RESULTS: The median duration of the simplified protocol - 92∙3 minutes (range 40 to 140) - was substantially shorter than the duration of the previous protocol - 201∙3 minutes (range 120 to 265). First treatment success rates were 58 and 62∙5% for the previous and simplified protocol, respectively. Overall treatment success rate was similar in both groups (96%). Complete debridement was associated with an improved first treatment success rate compared to partial debridement. CLINICAL SIGNIFICANCE: The simplified protocol is a valid alternative approach to the treatment of sinonasal aspergillosis. Completeness of endoscopic debridement before infusion is an important step for the success of treatment in canine sinonasal aspergillosis.


Assuntos
Antifúngicos/administração & dosagem , Aspergilose/veterinária , Doenças do Cão/tratamento farmacológico , Imidazóis/administração & dosagem , Doenças Nasais/veterinária , Administração Intranasal , Animais , Antifúngicos/uso terapêutico , Aspergilose/tratamento farmacológico , Aspergilose/cirurgia , Desbridamento/veterinária , Doenças do Cão/cirurgia , Cães , Endoscopia/veterinária , Feminino , Imidazóis/uso terapêutico , Masculino , Doenças Nasais/tratamento farmacológico , Doenças Nasais/microbiologia , Doenças Nasais/cirurgia , Resultado do Tratamento
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