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1.
Strategies Trauma Limb Reconstr ; 18(1): 16-20, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38033930

RESUMEN

Aim: Motorised intramedullary lengthening nails are considered more expensive than external fixators for limb lengthening. This research aims to compare the cost of femoral lengthening in children using the PRECICE magnetic lengthening nail with external fixation. Methods: Retrospective analysis of 50 children who underwent femoral lengthening. One group included patients who were treated with PRECICE lengthening nails, the other group included patients who had lengthening with external fixation. Each group included 25 patients aged between 11 and 17 years. The patients in both groups were matched for age. Cost analysis was performed following micro-costing and analysis of the used resources during the different phases of the treatments. Results: Each group's mean patient age was 14.7 years. Lengthening nails were associated with longer operative times compared with external fixators, both for implantation and removal surgery (p-values of 0.007 and < 0.0001, respectively). Length of stay following the implantation surgery, frequency of radiographs and frequency of outpatient department appointments were all lower with lengthening nails. The overall cost of lengthening nails was £1393 more than external fixators, however, this difference was not statistically significant (p-value = 0.088). Conclusion: The difference in the mean costs between femoral lengthening with lengthening nails versus external fixators was not statistically significant. Further research to review the effectiveness of the devices and the quality of life during the lengthening process is crucial for robust health economic evaluation. How to cite this article: Hafez M, Nicolaou N, Offiah A, et al. How Much Does Paediatric Femoral Lengthening Cost? A Cost Comparison between Magnetic Lengthening Nails and External Fixators. Strategies Trauma Limb Reconstr 2023;18(1):16-20.

2.
BMJ Open ; 13(3): e070329, 2023 03 10.
Artículo en Inglés | MEDLINE | ID: mdl-36898754

RESUMEN

INTRODUCTION: The role of digital health in providing psychological treatment and support for the prevention of suicide is well documented. Particular emphasis has been placed on digital health technologies during the COVID-19 pandemic. Providing psychological support reduces the burden of mental health conditions. The challenge is to provide support in the context of patient isolation, which highlights the role of digital technology (video conferencing, smartphone apps and social media). There is, however, a dearth of literature where experts by experience have been involved in the end-to-end process of developing digital health tools for suicide prevention. METHODS AND ANALYSIS: This study aims to codesign a digital health tool for suicide prevention focusing on the enablers and barriers. The scoping review protocol is phase I within a three-phase study. The protocol will inform the second phase of the study which is the scoping review. The results of the review will inform a funding application to National Institute for Health and Care Research to codesign a digital health tool for suicide prevention (the third phase). The search strategy will follow the Joanna Briggs Institute Reviewer's Manual for Scoping Reviews and incorporates the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews checklist to ensure reporting standards are maintained. The methodology will be supplemented by frameworks by Arksey and O'Malley and Levac et al. The search strategy dates for screening are from November 2022 to March 2023. Five databases will be searched: Medline, Scopus, CINAHL, PsycInfo and Cochrane Database of Systematic Reviews. Grey literature searches include government and non-government health websites, Google and Google Scholar. The data will be extracted and organised into relevant categories. The results will be synthesised into themes and inform phase II of the study. ETHICS AND DISSEMINATION: Ethics granted by the University of Bradford on 15 August 2022, reference E995. The project team will design a digital health tool, results will be published in a peer-review journal and disseminated through conferences. STUDY REGISTRATION NUMBER: Safety (Mental Health) Innovation Challenge Fund 2022-2023 Protocol RM0223/42079 Ver 0.1.


Asunto(s)
COVID-19 , Trastornos Mentales , Suicidio , Humanos , Pandemias , Prevención del Suicidio , Proyectos de Investigación , Revisiones Sistemáticas como Asunto , Literatura de Revisión como Asunto
3.
Int Orthop ; 46(6): 1367-1373, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35385976

RESUMEN

BACKGROUND: Distraction osteogenesis is a very demanding process. For decades, external fixation was the only reliable option for gradual deformity correction. Recently, intramedullary magnetic nails have gained popularity. This research aimed to assess the quality of life in children during gradual deformity correction using intramedullary lengthening nails compared to external fixation. METHOD: Prospective analysis included children who had gradual lower limb deformity correction between 2017 and 2019. Group A included children who had magnetic lengthening nails; patients in group B had external fixation devices. Child health utility 9D (CHU- 9D) and EuroQol 5D youth (EQ- 5D-Y) were used to measure the quality of life at fixed points during the distraction osteogenesis process. The results were used to calculate the utility at each milestone and the overall quality of life adjusted years (QALYs). RESULTS: Thirty-four children were recruited, group A had 16 patients, whilst group B had 18 patients. The average ages were 16.0 years and 14.7 years for groups A and B, respectively. Group A patients reported significantly better utility compared to group B. This was observed during all stages of treatment (P = 0.00016). QALYs were better for group A (0.44) compared to group B (0.34) (P < 0.0001). CONCLUSION: The quality of life was generally better in group A compared to group B. In most patients, the health utility progressively improved throughout treatment. In the same way, QALYs were better with the lengthening nails compared to external fixators. The magnetic lengthening devices (PRECICE nails) which were used in this research were recently relabelled to restrict their applications in children; this study was conducted before these restrictions.


Asunto(s)
Alargamiento Óseo , Fijación Intramedular de Fracturas , Osteogénesis por Distracción , Adolescente , Alargamiento Óseo/efectos adversos , Alargamiento Óseo/métodos , Clavos Ortopédicos , Niño , Fijadores Externos , Fémur/cirugía , Fijación Intramedular de Fracturas/efectos adversos , Fijación Intramedular de Fracturas/métodos , Humanos , Diferencia de Longitud de las Piernas/cirugía , Fenómenos Magnéticos , Uñas , Osteogénesis por Distracción/efectos adversos , Osteogénesis por Distracción/métodos , Calidad de Vida , Resultado del Tratamiento
4.
J Pediatr Orthop ; 42(3): e290-e294, 2022 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-34967804

RESUMEN

BACKGROUND: Femoral lengthening can be achieved using external fixators or intramedullary lengthening nails. The purpose of this research was to compare the outcome of femoral lengthening in children using PRECICE magnetic lengthening nails with lengthening external fixators. METHODS: Retrospective analysis of 50 children who had femoral lengthening. Group A included patients who had lengthening with external fixation, patients in Group B had lengthening with PRECICE intramedullary lengthening nails. Each group included 25 patients. The sample strictly included children aged between 11 and 17 years. Patients in each group were matched according to age and indication for lengthening whether congenital or acquired conditions. The outcomes focused on the ability to achieve target length, healing index, residual malalignment, length of hospitalization following the osteotomy surgery, and encountered complications. RESULTS: Mean patient age was 14.7 years for each group. The length gain was 42±12 mm for Group A and 41.6±8 mm for Group B (P=0.84). Lengthening nails achieved the target length more accurately compared with external fixation (P=0.017). The healing index was significantly higher in group A with 53.2±19 days/cm compared with 40.2±14 days/cm in group B (P=0.03). Group A had significantly higher complications than group B (P<0.0001). There was no statistically significant difference in the final coronal malalignment between the 2 groups (P=0.2). The mean length of stay was 9.2±5.8 days for group A and 4.2±3.3 days for group B (P=0.0005). CONCLUSION: Magnetic lengthening nails are clinically effective for femoral lengthening in the pediatric population. Compared with external fixation, healing index and complications were more favorable with PRECICE nails. Further research is required to study the cost-effectiveness of this technique. LEVEL OF EVIDENCE: Level IV-case series.


Asunto(s)
Alargamiento Óseo , Fijación Intramedular de Fracturas , Adolescente , Clavos Ortopédicos , Niño , Fijadores Externos , Fémur/diagnóstico por imagen , Fémur/cirugía , Humanos , Diferencia de Longitud de las Piernas/cirugía , Fenómenos Magnéticos , Uñas , Estudios Retrospectivos , Resultado del Tratamiento
5.
World J Orthop ; 12(11): 909-919, 2021 Nov 18.
Artículo en Inglés | MEDLINE | ID: mdl-34888151

RESUMEN

BACKGROUND: Femoral lengthening is a procedure of great importance in the treatment of congenital and acquired limb deficiencies. Technological advances have led to the latest designs of fully implantable motorized intramedullary lengthening nails. The use of these nails has increased over the last few years. AIM: To review and critically appraise the literature comparing the outcome of femoral lengthening in children using intramedullary motorized lengthening nails to external fixation. METHODS: Electronic databases (MEDLINE, CINAHL, EMBASE, Cochrane) were systematically searched in November 2019 for studies comparing the outcome of femoral lengthening in children using magnetic lengthening nails and external fixation. The outcomes included amount of gained length, healing index, complications and patient reported outcomes. RESULTS: Of the 452 identified studies, only two (retrospective and non-randomized) met the inclusion criteria. A total of 91 femora were included. In both studies, the age of patients treated with nails ranged from 15 to 21 years compared to 9 to 15 years for patients in the external fixation group. Both devices achieved the target length. Prevalence of adverse events was less in the nail (60%-73%) than in the external fixation (81%-100%) group. None of the studies presented patient reported outcomes. CONCLUSION: The clinical effectiveness of motorized nails is equivalent or superior to external fixation for femoral lengthening in young patients. The available literature is limited and does not provide evidence on patient quality of life or cost effectiveness of the interventions.

6.
Strategies Trauma Limb Reconstr ; 16(1): 41-45, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34326901

RESUMEN

INTRODUCTION: Fibrous dysplasia (FD) of bone can be present with pain, deformity and pathological fractures. Management is both medical and surgical. Little literature exists on the surgical management of both monostotic and polyostotic FD. We present our experience of limb reconstruction surgery in this pathological group of bone disease. MATERIALS AND METHODS: A retrospective cohort of children who underwent limb reconstruction surgery at a single high-volume paediatric centre was identified from a prospective database. Case notes and radiographs were reviewed. Surgical techniques, outcomes and difficulties were explored. RESULTS: Twenty-one patients were identified aged between 7 and 13 at presentation to the limb reconstruction unit. Eleven were female, nine had McCune-Albright syndrome, seven had polyostotic FD and five had monostotic. Proximal femoral varus procurvatum deformity was the most common site requiring surgical intervention. The distal femur, tibia, humerus and forearm were also treated.Methods include deformity correction with intramedullary fixation including endo-exo-endo techniques, elastic nailing, guided growth, circular fixator technique and fixator-assisted plating. Correction of deformity and leg length discrepancies was common.The osteotomies went on to heal with no nonunions or delayed healing. We encountered secondary deformity at distal end of nails as the children grew as expected. These were managed with revision nailing techniques and in some cases external fixation. There was one implant failure, which did not require revision surgery. CONCLUSION: The surgical management of pathological bone disease is challenging. Corrective osteotomies with intramedullary fixation can be very successful if appropriate limb reconstruction principles are adhered to. Deformity correction, guided growth and lengthening can all be successfully achieved in bone affected by FD. Polyostotic FD can be present with secondary deformities, and these can be difficult to manage. HOW TO CITE THIS ARTICLE: Hampton MJ, Weston-Simmons S, Giles SN, et al. Deformity Correction, Surgical Stabilisation and Limb Length Equalisation in Patients with Fibrous Dysplasia: A 20-year Experience. Strategies Trauma Limb Reconstr 2021;16(1):41-45.

7.
J Pediatr Orthop ; 41(6): e448-e456, 2021 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-33734203

RESUMEN

BACKGROUND: Telescopic rods in the management of osteogenesis imperfecta fail frequently. This could be attributed to technical errors, rod design, and rod structure. We aimed to analyze the mechanical properties and tribology of explanted male and female components to identify effects of in vivo telescoping that may relate to observed patterns of successful telescoping or failure. METHODS: Recruitment took place at 3 of the 4 English centers for osteogenesis imperfecta. Twenty-five rods explanted for growth or failure during revision to a new rod were analyzed in terms of clinical indication and prerevision imaging to identify if there was a technical mode of failure. Laboratory analysis was performed using optical and scanning electrical microscopy, radiograph diffraction analysis, hardness test, bending test, and energy-dispersive x-ray spectroscopy. RESULTS: All implants tested were of high-grade stainless steel. Female components had inferior strength [mean Vickers hardness property (HV0.3) at 0.3 to 313 kg] in comparison to male components (HV0.3 406) due to different techniques of manufacture. Female rods also had a higher wear coefficient (7.89×10-12 m3/N/m3) than the male rods (6.46×10-12 m3/N/m3). Abrasive wear, shear deformation, scratches, and wear debris were identified in all rods. Male and female components displayed corrosion contributing to adhesive wear. Intraoperatively cut rods, particularly the female components, had irregular ends leading to more wear. CONCLUSIONS: Current manufacturing techniques result in inferior material strength in female components compared with males, which combined with wear patterns is likely to lead to implant failure. Intraoperative cutting of rods may increase risk of failure due to wear. Considering techniques to improve strength as well as design in new implants may lead to better outcomes. LEVELS OF EVIDENCE: Level IV-cross-sectional study.


Asunto(s)
Osteogénesis Imperfecta/cirugía , Preescolar , Estudios Transversales , Femenino , Humanos , Masculino , Prótesis e Implantes , Acero Inoxidable
8.
Strategies Trauma Limb Reconstr ; 14(3): 132-138, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-32742428

RESUMEN

INTRODUCTION: Achondroplasia is one of the most common osteochondrodysplasias with an incidence of 1 in 26,000 live births. Bowing of lower limbs can cause significant morbidity in this population. The use of the Ilizarov external fixator to tighten collateral ligaments of the knee in children has not been reported in the literature. We report the technique and early results of lateral collateral ligament (LCL) tightening with correction of genu varum in children with achondroplasia. MATERIALS AND METHODS: A retrospective review of children with achondroplasia presenting with bowleg deformity who were treated by corrective osteotomy and LCL tightening was conducted. Between 1998 and 2003, 12 patients (24 limb segments) underwent this procedure and were included in the study. All patients had grade III LCL laxity preoperatively. Pre- and postoperative anteroposterior standing mechanical axis radiographs were evaluated. The final outcome was graded using the grading system of Paley et al. RESULTS: All patients had bilateral corrections. The Ilizarov external fixator was used in 10 patients and the Orthofix limb reconstruction system in 2 patients. The bony realignment was achieved through monofocal or bifocal tibial osteotomies. The LCL was tightened in all limb segments using the Paley's type II strategy. The final result was graded as excellent in 20 limb segments and good in 4 limb segments. One patient developed transient common peroneal nerve palsy, four developed grade II pin site infections, and there was premature consolidation of the tibial regenerate in one patient. HOW TO CITE THIS ARTICLE: Kurian BT, Belthur MV, Jones S, et al. Correction of Bowleg Deformity in Achondroplasia through Combined Bony Realignment and Lateral Collateral Ligament Tightening. Strategies Trauma Limb Reconstr 2019;14(3):132-138.

9.
J Child Psychol Psychiatry ; 59(8): 917-927, 2018 08.
Artículo en Inglés | MEDLINE | ID: mdl-29488219

RESUMEN

BACKGROUND: Mood disorders are familial psychiatric diseases, in which patients show reduced white matter (WM) integrity. We sought to determine whether WM integrity was affected in young offspring at high-familial risk of mood disorder before they go on to develop major depressive disorder (MDD). METHODS: The Bipolar Family study is a prospective longitudinal study examining young individuals (age 16-25 years) at familial risk of mood disorder on three occasions 2 years apart. This study used baseline imaging data, categorizing groups according to clinical outcome at follow-up. Diffusion tensor MRI data were acquired for 61 controls and 106 high-risk individuals, the latter divided into 78 high-risk subjects who remained well throughout the study ('high-risk well') and 28 individuals who subsequently developed MDD ('high-risk MDD'). Voxel-wise between-group comparison of fractional anisotropy (FA) based on diagnostic status was performed using tract-based spatial statistics (TBSS). RESULTS: Compared to controls, both high-risk groups showed widespread decreases in FA (pcorr  < .05) at baseline. Although FA in the high-risk MDD group negatively correlated with subthreshold depressive symptoms at the time of scanning (pcorr  < .05), there were no statistically significant differences at p-corrected levels between the two high-risk groups. CONCLUSIONS: These results suggest that decreased FA is related to the presence of familial risk for mood disorder along with subdiagnostic symptoms at the time of scanning rather than predictive of subsequent diagnosis. Due to the difficulties performing such longitudinal prospective studies, we note, however, that this latter analysis may be underpowered due to sample size within the high-risk MDD group. Further clinical follow-up may clarify these findings.


Asunto(s)
Trastorno Bipolar/patología , Trastorno Depresivo Mayor/patología , Imagen de Difusión Tensora , Sustancia Blanca/patología , Adolescente , Adulto , Trastorno Bipolar/diagnóstico por imagen , Trastorno Depresivo Mayor/diagnóstico por imagen , Susceptibilidad a Enfermedades , Femenino , Humanos , Estudios Longitudinales , Masculino , Riesgo , Sustancia Blanca/diagnóstico por imagen , Adulto Joven
10.
Nat Commun ; 8(1): 418, 2017 09 04.
Artículo en Inglés | MEDLINE | ID: mdl-28871118

RESUMEN

Proton conductivity of the polymer electrolyte membranes in fuel cells dictates their performance and requires sufficient water management. Here, we report a simple, scalable method to produce well-dispersed transition metal carbide nanoparticles. We demonstrate that these, when added as an additive to the proton exchange Nafion membrane, provide significant enhancement in power density and durability over 100 hours, surpassing both the baseline Nafion and platinum-containing recast Nafion membranes. Focused ion beam/scanning electron microscope tomography reveals the key membrane degradation mechanism. Density functional theory exposes that OH• and H• radicals adsorb more strongly from solution and reactions producing OH• are significantly more endergonic on tungsten carbide than on platinum. Consequently, tungsten carbide may be a promising catalyst in self-hydrating crossover gases while retarding desorption of and capturing free radicals formed at the cathode, resulting in enhanced membrane durability.The proton conductivity of polymer electrolyte membranes in fuel cells dictates their performance, but requires sufficient water management. Here, the authors report a simple method to produce well-dispersed transition metal carbide nanoparticles as additives to enhance the performance of Nafion membranes in fuel cells.

11.
Bipolar Disord ; 19(3): 158-167, 2017 05.
Artículo en Inglés | MEDLINE | ID: mdl-28470928

RESUMEN

OBJECTIVES: Previous neuroimaging studies have reported abnormalities in white matter (WM) pathways in subjects at high familial risk of mood disorders. In the current study, we examined the trajectory of these abnormalities during the early stages of illness development using longitudinal diffusion tensor imaging (DTI) data. METHODS: Subjects (16-28 years old) were recruited in the Scottish Bipolar Family Study, a prospective longitudinal study that has examined individuals at familial risk of mood disorder on three occasions, 2 years apart. The current study concerns imaging data from the first and second assessments. We analysed DTI data for 43 controls and 69 high-risk individuals who were further subdivided into a group of 53 high-risk subjects who remained well (high-risk well) and 16 who met diagnostic criteria for major depressive disorder (high-risk MDD) at follow-up. Longitudinal differences in fractional anisotropy (FA) between groups based on diagnostic status were investigated using the tract-based spatial statistics technique (TBSS). RESULTS: We found a significant reduction in FA (Pcorr <.05) across widespread brain regions over 2 years in all three groups. The trajectory of FA reduction did not differ significantly between groups. CONCLUSIONS: These results suggest that there are similar trajectories of FA reductions for controls and high-risk young adults, despite high-risk individuals being at a disadvantaged starting point considering their reduced WM integrity detected at baseline in previous studies. Difference in WM integrity between high-risk individuals and controls could therefore occur in earlier childhood and be a necessary but not sufficient condition to develop future mood disorders.


Asunto(s)
Trastorno Bipolar , Sustancia Blanca/diagnóstico por imagen , Adolescente , Adulto , Anisotropía , Trastorno Bipolar/diagnóstico , Trastorno Bipolar/epidemiología , Trastorno Depresivo Mayor/diagnóstico , Trastorno Depresivo Mayor/epidemiología , Imagen de Difusión Tensora/métodos , Femenino , Humanos , Estudios Longitudinales , Masculino , Anamnesis/métodos , Neuroimagen/métodos , Estudios Prospectivos , Medición de Riesgo , Factores de Riesgo , Escocia/epidemiología
12.
Psychiatry Res Neuroimaging ; 248: 119-25, 2016 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-26778365

RESUMEN

Subcortical volumetric brain abnormalities have been observed in mood disorders. However, it is unknown whether these reflect adverse effects predisposing to mood disorders or emerge at illness onset. Magnetic resonance imaging was conducted at baseline and after two years in 111 initially unaffected young adults at increased risk of mood disorders because of a close family history of bipolar disorder and 93 healthy controls (HC). During the follow-up, 20 high-risk subjects developed major depressive disorder (HR-MDD), with the others remaining well (HR-well). Volumes of the lateral ventricles, caudate, putamen, pallidum, thalamus, hippocampus and amygdala were extracted for each hemisphere. Using linear mixed-effects models, differences and longitudinal changes in subcortical volumes were investigated between groups (HC, HR-MDD, HR-well). There were no significant differences for any subcortical volume between groups controlling for multiple testing. Additionally, no significant differences emerged between groups over time. Our results indicate that volumetric subcortical brain abnormalities of these regions using the current method appear not to form familial trait markers for vulnerability to mood disorders in close relatives of bipolar disorder patients over the two-year time period studied. Moreover, they do not appear to reduce in response to illness onset at least for the time period studied.


Asunto(s)
Trastorno Bipolar/patología , Encéfalo/patología , Trastorno Depresivo Mayor/patología , Adulto , Susceptibilidad a Enfermedades , Familia , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Masculino , Riesgo , Adulto Joven
13.
Nat Commun ; 7: 10141, 2016 Jan 14.
Artículo en Inglés | MEDLINE | ID: mdl-26762466

RESUMEN

The development of a low-cost, high-performance platinum-group-metal-free hydroxide exchange membrane fuel cell is hindered by the lack of a hydrogen oxidation reaction catalyst at the anode. Here we report that a composite catalyst, nickel nanoparticles supported on nitrogen-doped carbon nanotubes, has hydrogen oxidation activity similar to platinum-group metals in alkaline electrolyte. Although nitrogen-doped carbon nanotubes are a very poor hydrogen oxidation catalyst, as a support, it increases the catalytic performance of nickel nanoparticles by a factor of 33 (mass activity) or 21 (exchange current density) relative to unsupported nickel nanoparticles. Density functional theory calculations indicate that the nitrogen-doped support stabilizes the nanoparticle against reconstruction, while nitrogen located at the edge of the nanoparticle tunes local adsorption sites by affecting the d-orbitals of nickel. Owing to its high activity and low cost, our catalyst shows significant potential for use in low-cost, high-performance fuel cells.

14.
PLoS One ; 10(6): e0130900, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26102360

RESUMEN

OBJECTIVE: Individuals carrying rare, but biologically informative genetic variants provide a unique opportunity to model major mental illness and inform understanding of disease mechanisms. The rarity of such variations means that their study involves small group numbers, however they are amongst the strongest known genetic risk factors for major mental illness and are likely to have large neural effects. DISC1 (Disrupted in Schizophrenia 1) is a gene containing one such risk variant, identified in a single Scottish family through its disruption by a balanced translocation of chromosomes 1 and 11; t(1;11) (q42.1;q14.3). METHOD: Within the original pedigree, we examined the effects of the t(1;11) translocation on white matter integrity, measured by fractional anisotropy (FA). This included family members with (n = 7) and without (n = 13) the translocation, along with a clinical control sample of patients with psychosis (n = 34), and a group of healthy controls (n = 33). RESULTS: We report decreased white matter integrity in five clusters in the genu of the corpus callosum, the right inferior fronto-occipital fasciculus, acoustic radiation and fornix. Analysis of the mixed psychosis group also demonstrated decreased white matter integrity in the above regions. FA values within the corpus callosum correlated significantly with positive psychotic symptom severity. CONCLUSIONS: We demonstrate that the t(1;11) translocation is associated with reduced white matter integrity in frontal commissural and association fibre tracts. These findings overlap with those shown in affected patients with psychosis and in DISC1 animal models and highlight the value of rare but biologically informative mutations in modeling psychosis.


Asunto(s)
Trastorno Bipolar/genética , Cromosomas Humanos Par 11/genética , Cromosomas Humanos Par 1/genética , Trastorno Ciclotímico/genética , Trastorno Depresivo Mayor/genética , Imagen de Difusión Tensora , Proteínas del Tejido Nervioso/genética , Esquizofrenia/genética , Translocación Genética , Sustancia Blanca/patología , Adolescente , Adulto , Trastorno Bipolar/patología , Cromosomas Humanos Par 1/ultraestructura , Cromosomas Humanos Par 11/ultraestructura , Cuerpo Calloso/patología , Trastorno Ciclotímico/patología , Trastorno Depresivo Mayor/patología , Exones/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proteínas del Tejido Nervioso/deficiencia , Proteínas del Tejido Nervioso/fisiología , Esquizofrenia/patología , Índice de Severidad de la Enfermedad , Adulto Joven
15.
Biol Psychiatry ; 78(6): 413-20, 2015 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-25758056

RESUMEN

BACKGROUND: Schizophrenia is associated with structural brain abnormalities that may be present before disease onset. It remains unclear whether these represent general vulnerability indicators or are associated with the clinical state itself. METHODS: To investigate this, structural brain scans were acquired at two time points (mean scan interval 1.87 years) in a cohort of individuals at high familial risk of schizophrenia (n = 142) and control subjects (n = 36). Cortical reconstructions were generated using FreeSurfer. The high-risk cohort was subdivided into individuals that remained well during the study, individuals that had transient psychotic symptoms, and individuals that subsequently became ill. Baseline measures and longitudinal change in global estimates of thickness and surface area and lobar values were compared, focusing on overall differences between high-risk individuals and control subjects and then on group differences within the high-risk cohort. RESULTS: Longitudinally, control subjects showed a significantly greater reduction in cortical surface area compared with the high-risk group. Within the high-risk group, differences in surface area at baseline predicted clinical course, with individuals that subsequently became ill having significantly larger surface area than individuals that remained well during the study. For thickness, longitudinal reductions were most prominent in the frontal, cingulate, and occipital lobes in all high-risk individuals compared with control subjects. CONCLUSIONS: Our results suggest that larger surface areas at baseline may be associated with mechanisms that go above and beyond a general familial disposition. A relative preservation over time of surface area, coupled with a thinning of the cortex compared with control subjects, may serve as vulnerability markers of schizophrenia.


Asunto(s)
Corteza Cerebral/patología , Esquizofrenia/patología , Adolescente , Adulto , Salud de la Familia , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Pronóstico , Estudios Prospectivos , Factores de Riesgo , Esquizofrenia/etiología , Adulto Joven
16.
Biol Psychiatry ; 78(1): 58-66, 2015 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-25534753

RESUMEN

BACKGROUND: Frontal and temporal cortical thickness abnormalities have been observed in mood disorders. However, it is unknown whether cortical thickness abnormalities reflect early adverse effects of genetic and environmental risk factors predisposing to mood disorders or emerge at illness onset. METHODS: Magnetic resonance imaging was conducted at baseline and after a 2-year follow-up interval in 111 initially unaffected young adults at high familial risk of mood disorders and 93 healthy control subjects (HC). During the follow-up period, 20 high-risk subjects developed major depressive disorder (HR-MDD), with the remainder remaining well (HR-well). Cortical surface reconstruction was applied to measure cortical thickness of frontal and temporal regions of interest. Mixed-effects models were used to investigate differences and longitudinal changes in cortical thickness. RESULTS: Reduced cortical thickness in the right parahippocampal and fusiform gyrus across both time points was found in both high-risk groups. HR-MDD also had thinner parahippocampi than HR-well individuals. Over time, HR-well and HC individuals had progressive thickness reductions in the left inferior frontal and precentral gyrus, which were greater in HR-well subjects. HR-MDD showed left inferior frontal gyrus thickening relative to HR-well subjects and left precentral gyrus thickening relative to HR-well and HC individuals. CONCLUSIONS: Reduced right parahippocampal and fusiform gyrus thickness are familial trait markers for vulnerability to mood disorders. Increased risk for mood disorders is associated with progressive cortical thinning in the left inferior frontal and precentral gyri in subjects who remain well. In contrast, onset of depression is associated with increasing left inferior frontal and precentral thickness.


Asunto(s)
Corteza Cerebral/patología , Trastorno Depresivo Mayor/patología , Trastornos del Humor/patología , Adulto , Trastorno Depresivo Mayor/genética , Progresión de la Enfermedad , Familia , Femenino , Lóbulo Frontal/patología , Predisposición Genética a la Enfermedad , Humanos , Masculino , Trastornos del Humor/genética , Factores de Riesgo , Lóbulo Temporal/patología , Adulto Joven
17.
Psychiatry Res ; 192(1): 20-8, 2011 Apr 30.
Artículo en Inglés | MEDLINE | ID: mdl-21376542

RESUMEN

Three risk variants (rs1538979, rs821577, and rs821633) in the Disrupted-in-Schizophrenia-1 (DISC1) gene have previously been associated with both schizophrenia and bipolar disorder in a recent collaborative analysis of European cohorts. In this study we examined the effects of these risk variants on brain activation during functional magnetic resonance imaging (fMRI) of the Hayling Sentence Completion Task (HSCT) in healthy volunteers (n=33), patients with schizophrenia (n=20) and patients with bipolar disorder (n=36). In the healthy controls the risk associated allele carriers of SNPs rs1538979 and rs821633 demonstrated decreased activation of the cuneus. Moreover, there was an effect of SNP rs1538979 in the pre/postcentral gyrus with decreased activation in healthy controls and increased activation in patients with schizophrenia. In the bipolar group there was decreased activation in the risk carriers of SNP rs821633 in the inferior parietal lobule and left cingulate cortex. Clusters in the precentral gyrus, left middle temporal gyrus and left cerebellum were found to be significant on examining the group × genotype interactions. These findings may provide a better understanding of the neural effects of DISC1 variants and on the pathophysiology of schizophrenia and bipolar disorder.


Asunto(s)
Trastorno Bipolar/genética , Trastorno Bipolar/patología , Encéfalo/patología , Proteínas del Tejido Nervioso/genética , Esquizofrenia/genética , Esquizofrenia/patología , Adulto , Análisis de Varianza , Encéfalo/irrigación sanguínea , Mapeo Encefálico , Femenino , Lateralidad Funcional , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Procesamiento de Imagen Asistido por Computador , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Oxígeno/sangre , Polimorfismo de Nucleótido Simple , Escalas de Valoración Psiquiátrica , Factores de Riesgo
18.
Biol Psychiatry ; 70(4): 350-6, 2011 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-21429475

RESUMEN

BACKGROUND: Bipolar disorder is a familial psychiatric disorder associated with reduced white matter integrity, but it is not clear whether such abnormalities are present in young unaffected relatives and, if so, whether they have behavioral correlates. We investigated with whole brain diffusion tensor imaging whether increased genetic risk for bipolar disorder is associated with reductions in white matter integrity and whether these reductions are associated with cyclothymic temperament. METHODS: Diffusion tensor imaging data of 117 healthy unaffected relatives of patients with bipolar disorder and 79 control subjects were acquired. Cyclothymic temperament was measured with the cyclothymia scale of the Temperament Evaluation of Memphis, Pisa and San Diego auto-questionnaire. Voxel-wise between-group comparisons of fractional anisotropy (FA) and regression of cyclothymic temperament were performed with tract-based spatial statistics. RESULTS: Compared to the control group, unaffected relatives had reduced FA in one large widespread cluster. Cyclothymic temperament was inversely related to FA in the internal capsules bilaterally and in left temporal white matter, regions also found to be reduced in high-risk subjects. CONCLUSIONS: These results show that widespread white matter integrity reductions are present in unaffected relatives of bipolar patients and that more localized reductions might underpin cyclothymic temperament. These findings suggest that white matter integrity is an endophenotype for bipolar disorder with important behavioral associations previously linked to the etiology of the condition.


Asunto(s)
Trastorno Bipolar/genética , Trastorno Bipolar/patología , Mapeo Encefálico , Encéfalo/patología , Fibras Nerviosas Mielínicas/patología , Adolescente , Adulto , Anisotropía , Cuerpo Calloso/patología , Imagen de Difusión por Resonancia Magnética/métodos , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Cápsula Interna/patología , Masculino , Temperamento , Adulto Joven
19.
J Natl Med Assoc ; 102(11): 1017-23, 2010 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-21141289

RESUMEN

BACKGROUND: Patients with sickle cell disease (SCD) are concerned with emergency department care, including time to treatment and staff attitudes and knowledge. Providers are concerned about rapid access to patient information and SCD treatment protocols. A software application that stores and retrieves encrypted personal medical information on a plastic credit card-sized Chart Card was designed. OBJECTIVE: To determine the applicability and feasibility of the Chart Card on patient satisfaction with emergency department care and provider accessibility to patient information and care protocols. METHODS: One-half of 44 adults (aged -18 years) and 50 children with SCD were randomized to either the Chart Card or usual care. Patient satisfaction was surveyed pre and post implementation of the Chart Card program, and emergency department staff was surveyed about familiarity with SCD treatment protocols. CONCLUSION: Patient satisfaction with emergency department care and efficacy in health care increased post Chart Card implementation. Providers valued immediate access to patient information and SCD treatment guidelines. The technology has potential for application in the treatment of other illnesses in other settings.


Asunto(s)
Anemia de Células Falciformes/terapia , Servicio de Urgencia en Hospital/organización & administración , Sistemas de Registros Médicos Computarizados , Satisfacción del Paciente , Adolescente , Adulto , Distribución de Chi-Cuadrado , Niño , Estudios de Factibilidad , Femenino , Humanos , Masculino , Programas Informáticos , Interfaz Usuario-Computador
20.
J Neurosurg Pediatr ; 3(6): 521-4, 2009 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-19485739

RESUMEN

The authors report a complex case in a 35-year-old woman who underwent shunt placement at birth for myelomeningocele. She had previously undergone more than 30 shunt revisions, with placement of the distal catheter in the peritoneum multiple times, and also in the pleura, the gall bladder, and the upper venous system. All shunts had failed and the possible placement sites were now anatomically hostile. A median sternotomy was performed as the next option. The catheter was placed directly into the appendage of the right atrium and secured with a pursestring suture. One month postoperatively, the patient presented with a large pericardial effusion after the distal catheter migrated out of the atrium and into the pericardial space. A repeat sternotomy was performed to drain the pericardial CSF collection. The catheter was reinserted into the atrial appendage, and a tunnel was created in the atrial wall to fix the device more securely. At 1 year postoperatively, the patient had no further symptoms of shunt obstruction or cardiac tamponade, and imaging studies suggested that the shunt system was functional. The authors report the first successful ventricle to direct heart shunt in an adult.


Asunto(s)
Derivaciones del Líquido Cefalorraquídeo/métodos , Adulto , Femenino , Atrios Cardíacos/cirugía , Humanos , Hidrocefalia/cirugía , Meningomielocele/cirugía , Reoperación , Terapia Recuperativa , Esternón/cirugía
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