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1.
Rev. otorrinolaringol. cir. cabeza cuello ; 81(4): 515-521, dic. 2021. ilus, tab
Article in Spanish | LILACS | ID: biblio-1389799

ABSTRACT

Introducción: La sutura mecánica es una opción para el cierre de la faringorrafia en laringectomía total por cáncer de laringe. Objetivo: Comparar el uso de sutura mecánica lineal con sutura manual de la faringe durante la laringectomía total por cáncer de laringe. Material y Método: Se realizó un estudio de tipo experimental prospectivo. Se compararon dos grupos pacientes: Los pacientes con sutura mecánica desde 2018 a marzo de 2020 y los pacientes con sutura manual previa a enero de 2018 en el Servicio de Otorrinolaringología del Hospital Barros Luco. Se analizaron fístula faringo-cutánea posoperatoria (FFC), tiempo operatorio, estadía hospitalaria y costo. Resultados: El estudio incluyó a 14 pacientes, cada grupo con n = 7. El grupo con sutura mecánica presento 0% de FFC y el grupo sutura manual 28%. El grupo con sutura mecánica reinicio alimentación a los 7 días y el grupo con sutura manual en promedio a los 11,5 (7-23) días. (p = 0,0023). El tiempo promedio de cirugía para el grupo experimental es de 288 ± 37,4 minutos y con sutura manual 311 ± 32,4 minutos. (p = 0,0176). El promedio de hospitalización para el grupo experimental fue de 11 ± 2,6 días (9 a 16), y para el grupo control fue de 21 ± 14 días (10 a 49) (p < 0,0001). Conclusión: La sutura mecánica es un procedimiento fácil de usar y seguro. Existiría un beneficio en el uso de sutura mecánica para el cierre faríngeo al compararlo con la sutura manual al disminuir el número de FFC, el tiempo operatorio y los días de hospitalización.


Introduction: Mechanical suture is an option for the closure of the pharyngorrhaphy in total laryngectomy due to laryngeal cancer. Aim: To compare the use of linear mechanical suture with manual pharyngeal suture during total laryngectomy for laryngeal cancer. Material and Method: A prospective experimental study was carried out. Two patient groups were compared: patients with mechanical suture from 2018 to March 2020 and patients with manual suture prior to January 2018 at the otorhinolaryngology service of the Barros Luco Hospital. Postoperative pharyngocutaneous fistula (FFC), operative time, hospital stay and cost were analyzed. Results: The study included 14 patients, each group with n = 7. The group with mechanical suture presented 0% of FFC and the group with manual suture 28%. The group with mechanical suture restarted feeding at 7 days and the group with manual suture on average at 11.5 (7-23) days (p = 0.0023). The average surgery time for the experimental group was 288 ± 37.4 minutes, while for the group with manual suture was 311 ± 32.4 minutes (p = 0.0176). The mean hospitalization for the experimental group was 11 ± 2.6 days (9 to 16), and for the control group it was 21 ± 14 days (10 to 49) (p < 0.0001). Conclusion: The mechanical suture is an easy to use and safe procedure. There would be a benefit in the use of mechanical suture for pharyngeal closure when buying it with manual suture by reducing the number of FFCs, operative time and days of hospitalization.


Subject(s)
Humans , Laryngeal Neoplasms/surgery , Laryngeal Neoplasms/epidemiology , Suture Techniques , Laryngectomy , Cutaneous Fistula/epidemiology , Cost-Effectiveness Analysis , Operative Time , Length of Stay
2.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1389772

ABSTRACT

Resumen Introducción: La otitis media crónica simple (OMC) es una patología común en nuestra población y hasta la fecha no queda bien claro cuál técnica y material de injerto da mejores resultados. Objetivo: Determinar si existen diferencias en los resultados anatómicos y funcionales al utilizar fascia de músculo temporal (FMT) versus injerto de cartílago de trago (CT) en los pacientes con OMC en que se les realizó miringoplastía en el Hospital Barros Luco Trudeau. Material y Método: Estudio de cohorte no concurrente de datos obtenidos de la revisión de fichas clínicas. Resultados: De 227 fichas, 154 cumplieron criterios de inclusión. En 102 pacientes (66%) se utilizó FMT y en 52 pacientes (34%) CT. Con FMT 38 presentaron reperforación (37%) y 41 presentaron un éxito funcional (40%). Con CT 18 presentaron reperforación (35%) y 22 presentaron un éxito funcional (42%). 38 pacientes presentaban antecedente de tabaquismo activo y de ellos 53% presentaron reperforación, mientras que de los sin antecedentes de tabaquismo solo un 31%, siendo esta diferencia estadísticamente significativa (p < 0,05). Conclusión: No se obtuvieron diferencias estadísticamente significativas entre los resultados anatómicos y funcionales comparando el uso de injerto FMT y CT para el tratamiento quirúrgico de la OMC simple con miringoplastía.


Abstract Introduction: Simple chronic otitis media (COM) is a common pathology in our population, and it is currently unclear, which grafts technique and material gives the best results. Aim: To determine if there are differences in the anatomical and functional results, when using temporal muscle fascia (FMT) or tragus cartilage graft (CT) in patients with COM who underwent myringoplasty at the Barros Luco Trudeau Hospital. Material and Method: Retrospective analytical cohort study of data obtained from clinical records. Results: Of 227 medical records, 154 met inclusion criteria. FMT was used in 102 patients (66%) and CT in 52 patients (34%). With FMT, 38 had reperforation (37%) and 41 had functional success (40%). With CT 18 had reperforation (35%) and 22 had functional success (42%). 38 patients had a history of active smoking and 53% of them presented reperforation, while of those without a history of smoking only 31%, this difference being statistically significant (p < 0,05). Conclusion: No statistically significant differences were obtained when analyzing the anatomical and functional results comparing the use of FMT and CT graft, for the simple surgical treatment of COM with myringoplasty.

4.
J Atten Disord ; 24(14): 2100-2114, 2020 12.
Article in English | MEDLINE | ID: mdl-29589797

ABSTRACT

Objective: The aim of this study is to contrast the genetics of neuropsychological tasks in individuals from nuclear families clustering ADHD in a Caribbean community. Method: We recruited and clinically characterized 408 individuals using an extensive battery of neuropsychological tasks. The genetic variance underpinning these tasks was estimated by heritability. A predictive framework for ADHD diagnosis was derived using these tasks. Results: We found that individuals with ADHD differed from controls in tasks of mental control, visuospatial ability, visuoverbal memory, phonological and verbal fluency, verbal and semantic fluency, cognitive flexibility, and cognitive ability. Among them, tasks of mental control, visuoverbal memory, phonological fluency, semantic verbal fluency, and intelligence had a significant heritability. A predictive model of ADHD diagnosis using these endophenotypes yields remarkable classification rate, sensitivity, specificity, and precision values (above 80%). Conclusion: We have dissected new cognitive endophenotypes in ADHD that can be suitable to assess the neurobiological and genetic basis of ADHD.


Subject(s)
Attention Deficit Disorder with Hyperactivity , Endophenotypes , Attention Deficit Disorder with Hyperactivity/genetics , Caribbean Region , Humans , Neuropsychological Tests , Semantics
5.
Rev. otorrinolaringol. cir. cabeza cuello ; 79(4): 387-394, dic. 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-1058713

ABSTRACT

RESUMEN Introducción: Cada día son más las mujeres que ingresan a las escuelas de medicina y a los programas de especialización tradicionalmente considerados como de "predominancia masculina" (especialidades quirúrgicas y médico-quirúrgicas). Internacionalmente se han hecho esfuerzos por conocer la realidad de igualdad de género en otorrinolaringología, pero poco se sabe del escenario chileno. Objetivo Evaluar la percepción de igualdad de género en otorrinolaringología en residentes y médicos de la especialidad en Chile. Además evaluar la asociación entre género y aspectos de vida laboral y personal. Material y método Elaboración y distribución de encuesta que recopila información epidemiológica, de formación, de vida personal y laboral, además de preguntas relacionadas con percepción de acoso y/o discriminación de género. Resultados 139 encuestados (55% hombres, 75% ≥40 años, 72% especialistas). Se obtuvo una diferencia estadísticamente significativa en percepción de discriminación negativa de género hacia mujeres tanto durante la residencia como en el lugar de trabajo, mayor reporte de cuestionamiento de habilidades quirúrgicas y de comentarios sexistas en desmedro de mujeres. Sin diferencia estadísticamente significativa en percepción de acoso sexual ni en variación de horas de trabajo luego de ser padre o madre. Conclusión En la población encuestada, la población femenina reportó mayor percepción de discriminación de género. Se deben aumentar los esfuerzos por estudiar la situación de igualdad de género en nuestro medio y generar ambientes amigables para el desarrollo profesional indiferente del género.


ABSTRACT Introduction: Everyday more women enter medicine schools and to traditionally known as "male predominant" specialization programs (surgical and medical-surgical specialties). Internationally, efforts have been made to understand the reality regarding gender equality in otolaryngology, but little is known about the Chilean scene. Aim: To evaluate the perception on gender equality in otolaryngology of residents and physicians of the specialty in Chile. Also, to evaluate the association between gender and aspects of labor and personal life. Material and methods: Elaboration and distribution of a survey that collects epidemiologic, schooling, personal and labor life information, additionally questions related to perception of harassment and/or gender discrimination. Results: 139 people surveyed (55% men, 75% ≤40 years old, 72% specialists). Statistically significant difference was found in the perception of negative discrimination against women during residency and in work places, greater report of questioning of surgical abilities and sexist comments against women. No statistical difference was found in the perception of sexual harassment nor variation of work hours after mother or fatherhood. Conclusion: The female population surveyed reported a greater perception of gender discrimination. Efforts to study gender equality situation should be increased and friendly environments for professional development independent of gender should be generated.


Subject(s)
Humans , Male , Female , Otolaryngology/statistics & numerical data , Physicians, Women/statistics & numerical data , Gender Equity , Chile , Surveys and Questionnaires , Sexual Harassment , Sexism
6.
Clin Transl Oncol ; 21(10): 1364-1373, 2019 Oct.
Article in English | MEDLINE | ID: mdl-30798512

ABSTRACT

PURPOSE: Patients with recurrent glioblastoma (rGBM) have a poor prognosis, with survival ranging from 25 to 40 weeks. Antiangiogenic agents are widely used, showing a variable response. In this study, we explored the efficacy of carmustine plus bevacizumab (BCNU/Bev) for treating rGBM. METHODS/PATIENTS: In this study, we assessed 59 adult patients with histologically confirmed rGBM who were treated with BCNU/Bev as second-line regimen. The response rate (RR), progression-free survival (PFS) and overall survival (OS) were evaluated according to their molecular expression profile, including CD133 mRNA expression, MGMT methylation (pMGMT), PDGFR amplification, YKL40 mRNA expression, IDH1/2 condition, p53 and EGFRvIII mutation status. RESULTS: Median follow-up was 18.6 months, overall RR to the combination was 56.3%, and median PFS was 9.0 months (95% CI 8.0-9.9). OS from time of diagnosis was 21.0 months (95% CI 13.2-28.7) and from starting BCNU/Bev it was 10.7 months (95% CI 9.5-11.8). IDH1/2 mutations were found in 30.5% of the patients, pMGMT in 55.9% and high CD133 mRNA expression in 57.6%. Factors which positively affected PFS included performance status (p = 0.015), IDH+ (p = 0.05), CD133 mRNA expression (p = 0.009) and pMGMT+ (p = 0.007). OS was positively affected by pMGMT+ (p = 0.05). Meanwhile, YKL40 negatively affected PFS (p = 0.01) and OS (p = 0.0001). Grade ≥ 3 toxicities included hypertension (22%) and fatigue (12%). CONCLUSIONS: BCNU/Bev is a safe and tolerable treatment for rGBM. Patients with MGMT+/IDH+ derive the greatest benefit from the treatment combination in the second-line setting. Nonetheless, high YKL40 expression discourages the use of antiangiogenic therapy.


Subject(s)
Angiogenesis Inhibitors/therapeutic use , Bevacizumab/therapeutic use , Brain Neoplasms/drug therapy , Carmustine/therapeutic use , Glioblastoma/drug therapy , Neoplasm Recurrence, Local/drug therapy , AC133 Antigen/genetics , AC133 Antigen/metabolism , Adult , Aged , Angiogenesis Inhibitors/adverse effects , Antineoplastic Agents/adverse effects , Antineoplastic Agents/therapeutic use , Bevacizumab/adverse effects , Brain Neoplasms/blood supply , Brain Neoplasms/genetics , Brain Neoplasms/mortality , Carmustine/adverse effects , Chitinase-3-Like Protein 1/genetics , Colombia , DNA Modification Methylases/metabolism , DNA Repair Enzymes/metabolism , Drug Administration Schedule , Female , Genes, erbB-1 , Genes, p53 , Glioblastoma/blood supply , Glioblastoma/genetics , Glioblastoma/mortality , Humans , Isocitrate Dehydrogenase/genetics , Male , Methylation , Middle Aged , Mutation , Neoplasm Recurrence, Local/blood supply , Neoplasm Recurrence, Local/genetics , Neoplasm Recurrence, Local/mortality , Progression-Free Survival , RNA, Messenger/metabolism , Receptors, Platelet-Derived Growth Factor/genetics , Survival Analysis , Tumor Suppressor Proteins/metabolism , Young Adult
7.
New Microbes New Infect ; 23: 17-27, 2018 May.
Article in English | MEDLINE | ID: mdl-29692906

ABSTRACT

Klebsiella spp. isolates from community-acquired infections were characterized. A total of 39 Klebsiella spp. isolates were obtained from outpatients at four rural hospitals in Mexico (2013-2014). The biochemical tests identified all as being K. pneumoniae. The molecular multiplex-PCR test identified 36 (92.4%) K. pneumoniae isolates and one (2.5%) K. variicola isolate, and phylogenetic analysis of the rpoB gene identified two isolates (5.1%) belonging to K. quasipneumoniae subsp. quasipneumoniae and K. quasivariicola. The last one was confirmed by phylogenetic analysis of six-loci concatenated genes. Mostly the isolates were multidrug resistant; however, a minority were extended-spectrum ß-lactamase producing (10.2%). The extended-spectrum ß-lactamase CTX-M-15 gene was identified in these isolates. Analysis of biofilm production and the hypermucoviscosity phenotype showed a total of 35 (92.3%) and seven (17.9%) of the isolates were positive for these phenotypes respectively. The K2 (4/39, 10.2%), K5 (2/39, 5.1%) and K54 (1/39, 2.5%) serotypes were identified in seven (17.9%) of the isolates, and only 28.5% (2/7) hypermucoviscous isolates were positive for the K2 and K5 serotypes. In general, the sequence type (ST) analysis and phylogenetic analysis of seven multilocus sequence typing loci were heterogeneous; however, ST29 was the most prevalent ST in the analysed isolates, accounting for 19% (4/21) of the total isolates. Two of the four ST29 isolates had the hypermucoviscosity phenotype. The virulence factors for fimbriae were the most prevalent, followed by siderophores. Community-acquired infections are caused by various species from Klebsiella genus, with different profiles of antibiotic resistance and heterogeneous virulence factors.

8.
Vasc Endovascular Surg ; 51(4): 199-202, 2017 May.
Article in English | MEDLINE | ID: mdl-28424038

ABSTRACT

Open aortic aneurysm repair in the setting of bilateral hypogastric aneurysms is technically challenging. We present a novel technique for open surgical repair for bilateral hypogastric aneurysms using the Gore hybrid vascular graft (GVHG; W. L. Gore and Associates Inc, Flagstaff, Arizona). The GVHG is an expanded polytetrafluoroethylene graft with a nitinol stent at 1 end designed for hemodialysis access. The GVHG has been also been used for aortic debranching and treatment of occlusive disease. We describe the first report using GVHG to repair hypogastric aneurysms.


Subject(s)
Aneurysm/surgery , Arteries/surgery , Blood Vessel Prosthesis Implantation/instrumentation , Blood Vessel Prosthesis , Iliac Aneurysm/surgery , Pelvis/blood supply , Polytetrafluoroethylene , Stents , Aged , Alloys , Aneurysm/diagnostic imaging , Arteries/diagnostic imaging , Computed Tomography Angiography , Female , Humans , Iliac Aneurysm/diagnostic imaging , Prosthesis Design , Treatment Outcome
9.
Mol Psychiatry ; 21(10): 1434-40, 2016 10.
Article in English | MEDLINE | ID: mdl-26598068

ABSTRACT

Attention-deficit/hyperactivity disorder (ADHD) is a heritable, chronic, neurodevelopmental disorder with serious long-term repercussions. Despite being one of the most common cognitive disorders, the clinical diagnosis of ADHD is based on subjective assessments of perceived behaviors. Endophenotypes (neurobiological markers that cosegregate and are associated with an illness) are thought to provide a more powerful and objective framework for revealing the underlying neurobiology than syndromic psychiatric classification. Here, we present the results of applying genetic linkage and association analyses to neuropsychological endophenotypes using microsatellite and single nucleotide polymorphisms. We found several new genetic regions linked and/or associated with these endophenotypes, and others previously associated to ADHD, for example, loci harbored in the LPHN3, FGF1, POLR2A, CHRNA4 and ANKFY1 genes. These findings, when compared with those linked and/or associated to ADHD, suggest that these endophenotypes lie on shared pathways. The genetic information provided by this study offers a novel and complementary method of assessing the genetic causes underpinning the susceptibility to behavioral conditions and may offer new insights on the neurobiology of the disorder.


Subject(s)
Attention Deficit Disorder with Hyperactivity/genetics , Endophenotypes/analysis , Adolescent , Adult , Aged , Aged, 80 and over , Child , Cognition Disorders/genetics , Colombia , Ethnicity/genetics , Female , Genetic Association Studies/methods , Genetic Linkage/genetics , Genetic Predisposition to Disease/genetics , Genetic Predisposition to Disease/psychology , Humans , Male , Microsatellite Repeats/genetics , Middle Aged , Neuropsychological Tests , Pedigree , Polymorphism, Single Nucleotide/genetics
10.
Acta Psychol (Amst) ; 159: 85-92, 2015 Jul.
Article in English | MEDLINE | ID: mdl-26057599

ABSTRACT

A deficit in "interference control" is commonly found in adults with Attention Deficit Hyperactivity Disorder (ADHD). This has mainly been interpreted as difficulties in inhibiting inappropriate responses. However, interference control involves processes other than simply the ability to inhibit. Consequently, we used sophisticated analysis to decipher the additional processes of interference control in these patients. We compared interference control between 16 adults with ADHD and 15 control adults performing a Simon task. In most studies, performance is generally reported in terms of mean error rates and reaction times (RTs). However, here we used distribution analyses of behavioral data, complemented by analyses of electromyographic (EMG) activity. This allowed us to better quantify the control of interference, specifically the part that remains hidden when pure correct trials are not distinguished from partial errors. Partial errors correspond to sub-threshold EMG bursts induced by incorrect responses that immediately precede a correct response. Moreover, besides "online" control, we also investigated cognitive control effects manifesting across consecutive trials. The main findings were that adults with ADHD were slower and showed a larger interference effect in comparison to controls. However, the data revealed that the larger interference effect was due neither to higher impulse expression, nor to a deficit in inhibition but that these patients presented a larger interference effect than the controls after congruent trials. We propose and discuss the hypothesis that the interference control deficit found in adults with ADHD is secondary to impairments in sustained attention.


Subject(s)
Attention Deficit Disorder with Hyperactivity/physiopathology , Executive Function/physiology , Psychomotor Performance/physiology , Adolescent , Adult , Female , Humans , Inhibition, Psychological , Male , Reaction Time/physiology , Young Adult
11.
Radiología (Madr., Ed. impr.) ; 56(2): 107-117, mar.-abr. 2014. ilus, tab
Article in Spanish | IBECS | ID: ibc-120865

ABSTRACT

La neuropatía del nervio peroneo es la mononeuropatía más común de los miembros inferiores. Entre las causas se incluyen el traumatismo, los tumores del nervio y de la vaina, el atrapamiento, y otras como el perineuroma, la fibromatosis, el linfoma y el ganglión intraneural y extraneural. El diagnóstico se basa en las manifestaciones clínicas y los estudios electrofisiológicos. Actualmente, sin embargo, el complemento diagnóstico con neurografía por resonancia magnética (RM) permite aproximarse al lugar y la causa de esta neuropatía. El objetivo de este trabajo es describir con la RM la anatomía del nervio peroneo, sus relaciones y los músculos que inerva; mencionar las manifestaciones clínicas y electrofisiológicas de sus lesiones; describir los parámetros técnicos que se emplean en nuestra institución; y mostrar la apariencia en RM de las diversas enfermedades que afectan al nervio peroneo (AU)


Peroneal neuropathy is the most common mononeuropathy of the lower limbs. The causes of peroneal neuropathy include trauma, tumors of the nerve and nerve sheath, entrapment, and others like perineurioma, fibromatosis, lymphoma, and intraneural and externeural ganglia. The diagnosis is based on clinical manifestations and electrophysiological studies. Nowadays, however, magnetic resonance (MR) neurography is a complementary diagnostic technique that can help determine the location and cause of peroneal neuropathy. In this article, we describe the MR anatomy of the peroneal nerve, its relations, and the muscles it innervates. We also discuss the clinical and electrophysiological manifestations of peroneal neuropathy, describe the technical parameters used at our institution, and illustrate the MR appearance of various diseases that involve the peroneal nerve (AU)


Subject(s)
Humans , Peroneal Neuropathies , Neuroimaging/methods , Magnetic Resonance Spectroscopy/methods , Peroneal Nerve , Electrophysiology/methods
12.
Radiologia ; 56(2): 107-17, 2014.
Article in Spanish | MEDLINE | ID: mdl-24508057

ABSTRACT

Peroneal neuropathy is the most common mononeuropathy of the lower limbs. The causes of peroneal neuropathy include trauma, tumors of the nerve and nerve sheath, entrapment, and others like perineurioma, fibromatosis, lymphoma, and intraneural and externeural ganglia. The diagnosis is based on clinical manifestations and electrophysiological studies. Nowadays, however, magnetic resonance (MR) neurography is a complementary diagnostic technique that can help determine the location and cause of peroneal neuropathy. In this article, we describe the MR anatomy of the peroneal nerve, its relations, and the muscles it innervates. We also discuss the clinical and electrophysiological manifestations of peroneal neuropathy, describe the technical parameters used at our institution, and illustrate the MR appearance of various diseases that involve the peroneal nerve.


Subject(s)
Magnetic Resonance Imaging/methods , Neuroimaging/methods , Peroneal Neuropathies/diagnosis , Humans , Peroneal Nerve/anatomy & histology , Peroneal Neuropathies/etiology
13.
Rev Neurol ; 54(5): 289-302, 2012 Mar 01.
Article in Spanish | MEDLINE | ID: mdl-22362478

ABSTRACT

The diagnostic criteria for the attentional deficit hyperactivity disorder (ADHD), were defined by the American Psychiatric Association in the Diagnostic and Statistical Manual of Mental Disorders fourth version (DSM-IV) and World Health Organization in the ICD-10. The American Psychiatric Association used an internal validity analysis to select specific behavioral symptoms associated with the disorder and to build five cross-cultural criteria for its use in the categorical diagnosis. The DSM has been utilized for clinicians and researchers as a valid and stable approach since 1968. We did a systematic review of scientific literature in Spanish and English, aimed to identify the historical origin that supports ADHD as a psychiatric construct. This comprehensive review started exploring the concept of minimal brain dysfunction, hyper-activity, inattention, impulsivity since 1932 to 2011. This paper summarize all the DSM versions that include the definition of ADHD or its equivalent, and it point out the statistical and methodological approach implemented for defining ADHD as a valid epidemiological and psychometric construct. Finally the paper discusses some considerations and suggestions for the new versions of the manual.


Subject(s)
Attention Deficit Disorder with Hyperactivity/diagnosis , Diagnostic and Statistical Manual of Mental Disorders , Humans , Neurobiology , Reproducibility of Results
14.
Mol Psychiatry ; 17(7): 741-7, 2012 Jul.
Article in English | MEDLINE | ID: mdl-21606926

ABSTRACT

In previous studies of a genetic isolate, we identified significant linkage of attention deficit hyperactivity disorder (ADHD) to 4q, 5q, 8q, 11q and 17p. The existence of unique large size families linked to multiple regions, and the fact that these families came from an isolated population, we hypothesized that two-locus interaction contributions to ADHD were plausible. Several analytical models converged to show significant interaction between 4q and 11q (P<1 × 10(-8)) and 11q and 17p (P<1 × 10(-6)). As we have identified that common variants of the LPHN3 gene were responsible for the 4q linkage signal, we focused on 4q-11q interaction to determine that single-nucleotide polymorphisms (SNPs) harbored in the LPHN3 gene interact with SNPs spanning the 11q region that contains DRD2 and NCAM1 genes, to double the risk of developing ADHD. This interaction not only explains genetic effects much better than taking each of these loci effects by separated but also differences in brain metabolism as depicted by proton magnetic resonance spectroscopy data and pharmacogenetic response to stimulant medication. These findings not only add information about how high order genetic interactions might be implicated in conferring susceptibility to develop ADHD but also show that future studies of the effects of genetic interactions on ADHD clinical information will help to shape predictive models of individual outcome.


Subject(s)
Attention Deficit Disorder with Hyperactivity/genetics , Chromosomes, Human, Pair 11/genetics , Genetic Linkage/genetics , Genetic Predisposition to Disease/genetics , Receptors, G-Protein-Coupled/genetics , Receptors, Peptide/genetics , Aspartic Acid/analogs & derivatives , Aspartic Acid/metabolism , Attention Deficit Disorder with Hyperactivity/drug therapy , Brain/metabolism , Case-Control Studies , Choline/metabolism , Glutamine/metabolism , Humans , Inositol/metabolism , Magnetic Resonance Spectroscopy/methods , Methylphenidate/therapeutic use , Polymorphism, Single Nucleotide/genetics , Protons
16.
Mol Psychiatry ; 15(11): 1053-66, 2010 Nov.
Article in English | MEDLINE | ID: mdl-20157310

ABSTRACT

Attention-Deficit/Hyperactivity Disorder (ADHD) has a very high heritability (0.8), suggesting that about 80% of phenotypic variance is due to genetic factors. We used the integration of statistical and functional approaches to discover a novel gene that contributes to ADHD. For our statistical approach, we started with a linkage study based on large multigenerational families in a population isolate, followed by fine mapping of targeted regions using a family-based design. Family- and population-based association studies in five samples from disparate regions of the world were used for replication. Brain imaging studies were performed to evaluate gene function. The linkage study discovered a genome region harbored in the Latrophilin 3 gene (LPHN3). In the world-wide samples (total n=6360, with 2627 ADHD cases and 2531 controls) statistical association of LPHN3 and ADHD was confirmed. Functional studies revealed that LPHN3 variants are expressed in key brain regions related to attention and activity, affect metabolism in neural circuits implicated in ADHD, and are associated with response to stimulant medication. Linkage and replicated association of ADHD with a novel non-candidate gene (LPHN3) provide new insights into the genetics, neurobiology, and treatment of ADHD.


Subject(s)
Attention Deficit Disorder with Hyperactivity/drug therapy , Attention Deficit Disorder with Hyperactivity/genetics , Central Nervous System Stimulants/therapeutic use , Genetic Predisposition to Disease , Receptors, G-Protein-Coupled/genetics , Receptors, Peptide/genetics , Adolescent , Adult , Brain/metabolism , Cell Survival/genetics , Child , Child, Preschool , Chromosome Mapping , Female , Genetic Linkage , Genotype , Humans , Magnetic Resonance Spectroscopy/methods , Male , Polymorphism, Genetic , Receptors, G-Protein-Coupled/metabolism , Receptors, Peptide/metabolism
17.
Rev Neurol ; 48(8): 400-6, 2009.
Article in Spanish | MEDLINE | ID: mdl-19340779

ABSTRACT

INTRODUCTION: The Wender-Utah Rating Scale (WURS) has been used for retrospective screening of attention deficit hyperactivity disorders (ADHD) symptoms and its comorbidities. AIM: To establish the ADHD behavioral phenotype dimensions of adults from 140 Antioquian families with genetic segregation for ADHD diagnosis, using the WURS -Spanish version. SUBJECTS AND METHODS: 392 adults from both genders, belonging to nuclear and multigenerational families with one or more ADHD affected members were selected. The Composite International Diagnostic Interview (CIDI) for mental disorder was administered to establish the gold standard diagnosis of ADHD through the long life. All participants fulfill the WURS. Exploratory and confirmatory factor analyses were done to determine the behavioral dimensions of the ADHD phenotype. RESULTS: A factor structure of four dimensions was derived, measuring behavioral decontrol, hyperactivity, inattention and anxiety, and which explained the 60% of the total variance. CONCLUSIONS: The behavioral adult ADHD phenotype in the Antioquian families was conformed by four dimensions, which could be used in heritability and linkage future studies.


Subject(s)
Attention Deficit Disorder with Hyperactivity/diagnosis , Attention Deficit Disorder with Hyperactivity/physiopathology , Behavior/physiology , Psychiatric Status Rating Scales , Adult , Attention Deficit Disorder with Hyperactivity/genetics , Comorbidity , Female , Humans , Male , Middle Aged , Personality Assessment , Personality Inventory , Phenotype , Retrospective Studies , Spain , Surveys and Questionnaires
19.
Rev Neurol ; 47(6): 290-4, 2008.
Article in Spanish | MEDLINE | ID: mdl-18803154

ABSTRACT

INTRODUCTION: Intrusive errors in verbal memory tests could be considered as a preclinical marker of familial Alzheimer disease (AD). AIMS. To analyze and to compare the number and types of intrusive errors in the CERAD verbal memory test, administered to a genealogy of affected by familial AD, with E280A presenilin-1 mutation. PATIENTS AND METHODS: Sample was constituted by 30 asymptomatic non-carriers (ANC), 39 non-demented carriers (NDC) and 21 demented carriers (DC). CERAD verbal memory test was administered to the sample. Comparisons, with non parametric Kruskal-Wallis' analysis, were done. RESULTS: NDC participants presented more intrusive errors than ANC group in the first and second trials and in the delay recall of the memory task; also they had more intrusive errors than the DC patients in intrusive errors of the first trial and delay recall of the same task. The ANC and DC groups had significantly more intrusions only in third trial. CONCLUSION: Intrusive errors could be considered as a cognitive preclinical marker for familial AD.


Subject(s)
Alzheimer Disease/genetics , Biomarkers , Memory Disorders , Mutation , Neuropsychological Tests , Presenilin-1/genetics , Adult , Alzheimer Disease/physiopathology , Heterozygote , Humans , Memory , Memory Disorders/genetics , Memory Disorders/physiopathology , Middle Aged , Verbal Behavior/physiology
20.
Rev Neurol ; 47(4): 175-84, 2008.
Article in Spanish | MEDLINE | ID: mdl-18671206

ABSTRACT

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) gives rise to behavioural and neuropsychological alterations. AIMS: The purpose of this study is to compare the behavioural and neuropsychological skills of 6 to 11-year-old children of both sexes, who have been diagnosed with ADHD, with that of a control group. SUBJECTS AND METHODS: From a total of 1200 schoolchildren, whose parents and teachers answered a brief ADHD screening survey, we selected 112 participants who were then submitted to a psychological clinical interview and a neurological examination in order to assign them to one of three groups: combined-type ADHD, inattentive ADHD and a control group. Behaviour was assessed by applying the Conners' Rating Scales and the multidimensional behaviour survey. Cognitive capacities were assessed by applying a neuropsychological battery for attention, memory, visuomotor and verbal skills, and executive functions. Groups were compared by means of a Kruskal-Wallis non-parametric univariate analysis of variance. In the case of pairs of groups, the Mann-Whitney U test was employed. RESULTS: The behavioural scales showed greater alterations in the case groups, with more problems in the combined-type ADHD group. Neuropsychologically, significantly lower performances were observed in the ADHD groups in sustained attention, executive function, semantic and phonological fluency tests. CONCLUSIONS: Behavioural disorders are the most apparent in ADHD. The neuropsychological alterations that were found were similar to those reported in other studies conducted in Colombia.


Subject(s)
Attention Deficit Disorder with Hyperactivity/complications , Attention Deficit Disorder with Hyperactivity/psychology , Cognition Disorders/etiology , Mental Disorders/etiology , Child , Female , Humans , Male , Neuropsychological Tests
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